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  • Triple X Syndrome Wikipedia
    It was found in a 35‑year-old, 5 ft. 9 in. (176 cm) tall, 128 lb. (58.2 kg) woman who had premature ovarian failure at age 19; her mother was age 41 and her father was 40 at the time of her conception. [9] Jacobs, et al. called the 47,XXX woman a " superfemale ", a term which was immediately criticized, did not gain acceptance, and was based on the incorrect assumption that the sex-determination system in mammals was the same as in the fruit fly Drosophila . [10] British pathologist and geneticist Bernard Lennox, the principal consultant on medical terms for the Oxford English Dictionary , suggested the term "XXX syndrome". [11] References ^ a b c d e f g h i j k "triple X syndrome" . ... Retrieved 26 September 2016 . ^ a b c d e f g h Tartaglia, NR; Howell, S; Sutherland, A; Wilson, R; Wilson, L (11 May 2010). ... Archived from the original on 2012-02-28. ^ a b c d e f g Otter, M; Schrander-Stumpel, CT; Curfs, LM (March 2010). ... Triple X syndrome Genetics Home Reference v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
    SHOX, SRY, AMH, STS, ARSC2, ATM, CD38, CYBB, GDF9, GNRHR, MECP2, FIGLA
    • Triple X Syndrome Mayo Clinic
      Overview Triple X syndrome, also called trisomy X or 47,XXX, is a genetic disorder that affects about 1 in 1,000 females. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes. Many girls and women with triple X syndrome don't experience symptoms or have only mild symptoms. In others, symptoms may be more apparent — possibly including developmental delays and learning disabilities. Seizures and kidney problems occur in a small number of girls and women with triple X syndrome.
    • Triple X Syndrome MedlinePlus
      Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children. Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women.
    • Trisomy X Orphanet
      Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). Epidemiology It is the most common female chromosomal abnormality occurring in approximately 1 in 1,000 female births. However, as most individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. Clinical description The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF; see this term) are also associated findings.
    • 47 Xxx Syndrome GARD
      47 XXX syndrome , also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism .
  • Sex Differences In Medicine Wikipedia
    Find sources: "Sex differences in medicine" – news · newspapers · books · scholar · JSTOR ( June 2014 ) Part of a series on Sex differences in humans Physiology Medicine Sexual differentiation Autism Health Mental disorders Narcissism Schizophrenia Stroke care Neuroscience Memory Eyewitness memory Cognition Intelligence Emotional intelligence Psychology Gender psychology Sociology Crime Education Leadership Social capital Suicide v t e Sex differences in medicine include sex-specific diseases or conditions which occur only in people of one sex (for example, prostate cancer in males or uterine cancer in females); sex-related diseases, which are diseases that are more common to one sex (for example, systemic lupus erythematosus occurs predominantly in females); [1] and diseases which occur at similar rates in males and females but manifest differently according to sex (for example, peripheral artery disease ). [2] Sex differences in medicine should not be confused with gender differences. ... ISBN 978-0-89042-555-8 . ^ Di Carlo A, Baldereschi M, Amaducci L, Lepore V, Bracco L, Maggi S, Bonaiuto S, Perissinotto E, Scarlato G, Farchi G, Inzitari D (January 2002). ... PMID 17626963 . ^ Alegria, Analucia A.; Blanco, Carlos; Petry, Nancy M.; Skodol, Andrew E.; Liu, Shang-Min; Grant, Bridget; Hasin, Deborah (July 2013). ... Journal of Clinical Oncology . 31 (36): 4550–9. doi : 10.1200/jco.2013.50.3870 . PMC 3865341 . PMID 24248688 . v t e Sex differences in humans Physiology Medicine Sexual differentiation Autism Health Mental disorders Narcissism Schizophrenia Stroke care Neuroscience Memory Eyewitness memory Cognition Intelligence Emotional intelligence Psychology Gender psychology Sociology Crime Education Leadership Social capital Suicide
  • Trimethylaminuria Wikipedia
    PMID 9536088 . ^ Zschocke J, Kohlmueller D, Quak E, Meissner T, Hoffmann GF, Mayatepek E (1999). ... Aust . 189 (8): 468. doi : 10.5694/j.1326-5377.2008.tb02126.x . PMID 18928446 . ^ Treacy E; Johnson D. Pitt JJ; Danks DM (1995). ... National Library of Medicine and The National Human Genome Research Institute v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria
    FMO3, FMO2, MBP, LINC01672
    • Primary Trimethylaminuria GeneReviews
      Summary Clinical characteristics. Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause. Diagnosis/testing. The diagnosis of primary trimethylaminuria is established in a proband who: Excretes (under normal dietary conditions) in the urine more than 10% of total trimethylamine (TMA) as the free amine; and Has biallelic (homozygous or compound heterozygous), known loss-of-function pathogenic variants in FMO3 on molecular genetic testing.
    • Severe Primary Trimethylaminuria Orphanet
      A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.
    • Trimethylaminuria MedlinePlus
      Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.
    • Trimethylaminuria OMIM
      A number sign (#) is used with this entry because of evidence that trimethylaminuria, sometimes referred to as fish-odor syndrome, is caused by homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 (FMO3; 136132) on chromosome 1q24. Another inborn error of metabolism accompanied by fish-like body odor results from deficiency of dimethylglycine dehydrogenase (see 605850). Description Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996). Clinical Features Individuals with trimethylaminuria excrete relatively large amounts of amino-trimethylamine (TMA) in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine, leading to the designation fish-odor syndrome.
    • Trimethylaminuria GARD
      Trimethylaminuria causes the body to produce a fishy odor that is released in the sweat, urine, breath, and reproductive fluids. People with trimethylaminuria are unable to break down trimethylamine. Trimethylamine comes from specific chemicals (choline, carnitine, TMAO) found in certain foods. The excess trimethylamine builds up and is the source of the odor. There are no other physical symptoms from trimethylaminuria, but people with this condition may experience serious psychological and social distress. Trimethylaminuria is due to a FMO3 gene that is not working correctly.
  • Fetal Adenocarcinoma Wikipedia
    Micrograph showing fetal adenocarcinoma. H&E stain . Fetal adenocarcinoma (FA) of the lung is a rare subtype of pulmonary adenocarcinoma that exhibits tissue architecture and cell characteristics that resemble fetal lung tissue upon microscopic examination. ... PMID 20205788 . ^ Longo M, Levra MG, Capelletto E, et al. (April 2008). "Fetal adenocarcinoma of the lung in a 25-year-old woman". ... Pathol . 27 (6): 542–6. doi : 10.1016/S0046-8177(96)90159-8 . PMID 8666362 . ^ a b c d e Cutler CS, Michel RP, Yassa M, Langleben A (February 1998). ... PMID 16387506 . ^ a b Matsuoka T, Sugi K, Matsuda E, et al. (August 2006). "[Clear cell adenocarcinoma with acomponent of well-differentiated fetal adenocareinoma; report of a case]".
    TP53, DICER1
  • Tick Paralysis Wikipedia
    External links [ edit ] Classification D ICD - 10 : T63.4 ICD - 9-CM : 989.5 MeSH : D013985 DiseasesDB : 31779 SNOMED CT : 74225001 External resources MedlinePlus : 001359 v t e Poisoning Toxicity Overdose History of poison Inorganic Metals Toxic metals Beryllium Cadmium Lead Mercury Nickel Silver Thallium Tin Dietary minerals Chromium Cobalt Copper Iron Manganese Zinc Metalloids Arsenic Nonmetals Sulfuric acid Selenium Chlorine Fluoride Organic Phosphorus Pesticides Aluminium phosphide Organophosphates Nitrogen Cyanide Nicotine Nitrogen dioxide poisoning CHO alcohol Ethanol Ethylene glycol Methanol Carbon monoxide Oxygen Toluene Pharmaceutical Drug overdoses Nervous Anticholinesterase Aspirin Barbiturates Benzodiazepines Cocaine Lithium Opioids Paracetamol Tricyclic antidepressants Cardiovascular Digoxin Dipyridamole Vitamin poisoning Vitamin A Vitamin D Vitamin E Megavitamin-B 6 syndrome Biological 1 Fish / seafood Ciguatera Haff disease Ichthyoallyeinotoxism Scombroid Shellfish poisoning Amnesic Diarrhetic Neurotoxic Paralytic Other vertebrates amphibian venom Batrachotoxin Bombesin Bufotenin Physalaemin birds / quail Coturnism snake venom Alpha-Bungarotoxin Ancrod Batroxobin Arthropods Arthropod bites and stings bee sting / bee venom Apamin Melittin scorpion venom Charybdotoxin spider venom Latrotoxin / Latrodectism Loxoscelism tick paralysis Plants / fungi Cinchonism Ergotism Lathyrism Locoism Mushrooms Strychnine 1 including venoms , toxins , foodborne illnesses . Category Commons WikiProject v t e Tick-borne diseases and infestations Diseases Bacterial infections Rickettsiales Anaplasmosis Boutonneuse fever Ehrlichiosis ( Human granulocytic , Human monocytotropic , Human E. ewingii infection ) Scrub typhus Spotted fever rickettsiosis Pacific Coast tick fever American tick bite fever rickettsialpox Rocky Mountain spotted fever ) Spirochaete Baggio–Yoshinari syndrome Lyme disease Relapsing fever borreliosis Thiotrichales Tularemia Viral infections Bhanja virus Bourbon virus Colorado tick fever Crimean–Congo hemorrhagic fever Heartland bandavirus Kemerovo tickborne viral fever Kyasanur Forest disease Omsk hemorrhagic fever Powassan encephalitis Severe fever with thrombocytopenia syndrome Tete orthobunyavirus Tick-borne encephalitis Protozoan infections Babesiosis Other diseases Tick paralysis Alpha-gal allergy Southern tick-associated rash illness Infestations Tick infestation Species and bites Amblyomma Amblyomma americanum Amblyomma cajennense Amblyomma triguttatum Dermacentor Dermacentor andersoni Dermacentor variabilis Ixodes Ixodes cornuatus Ixodes holocyclus Ixodes pacificus Ixodes ricinus Ixodes scapularis Ornithodoros Ornithodoros gurneyi Ornithodoros hermsi Ornithodoros moubata Other Rhipicephalus sanguineus Authority control LCCN : sh85135249
  • Blepharospasm Wikipedia
    . ^ Simpson, D. M.; Hallett, M.; Ashman, E. J.; Comella, C. L.; Green, M. W.; Gronseth, G. ... PMID 24682196 . ^ Schellini SA, Matai O, Igami TZ, Padovani CR, Padovani CP (2006). "Blefarospasmo essencial e espasmo hemifacial: características dos pacientes, tratamento com toxina botulínica A e revisão da literatura" [Essential blepharospasm and hemifacial spasm: characteristic of the patient, botulinum toxin A treatment and literature review]. ... External links [ edit ] Classification D ICD - 10 : G24.5 ICD - 9-CM : 333.81 OMIM : 606798 MeSH : D001764 DiseasesDB : 15748 External resources MedlinePlus : 000756 eMedicine : oph/202 Patient UK : Blepharospasm Blepharospasm – Resource Guide from the National Eye Institute (NEI) v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
    DRD5, TOR1A, SYNGAP1
  • Nonalcoholic Fatty Liver Disease Mayo Clinic
    But researchers are studying whether some natural compounds could be helpful, such as: Vitamin E. In theory, vitamin E and other vitamins called antioxidants could help protect the liver by reducing or neutralizing the damage caused by inflammation. But more research is needed. Some evidence suggests vitamin E supplements may be helpful for people with liver damage caused by nonalcoholic fatty liver disease. But vitamin E has been linked with increased risk of death and, in men, an increased risk of prostate cancer.
    TM6SF2, PNPLA3, NFE2L2, LEP, CYP2E1, PPARA, SIRT1, NR1H4, FGF21, ADIPOQ, PPARD, SREBF1, XBP1, LDLR, CAT, FAS, GNMT, CPT1A, PEMT, NR5A2, TGFB1, AHR, GSTP1, GSTM1, PRKCA, IL1A, JAK2, ACE, CD14, KLB, GSTT1, ALDH2, ABCC2, PTEN, PDK4, GSTA1, IL4, LIF, PRKCE, VLDLR, NQO1, PRKCD, FOLR2, EIF2AK1, TNFRSF1B, CYP17A1, CSF2, ALDH4A1, SCARB1, RDX, F2, STC2, LAMA1, IKBKG, CYP1A2, PRKACA, RAG2, B3GAT1, ALDH1B1, ADH1A, IL3, MMP1, ABCB4, TRIB3, ADH4, ADH1B, PRF1, SERPINB2, AHCY, ALDH1A1, GCKR, ATP5F1B, NCAN, PARVB, SAMM50, FDFT1, PTPRD, PLPP7, KRT18, MIR122, TLR4, ZNF512, IGF1, LEPR, MBOAT7, MIR21, SREBF2, CRP, MTTP, IL1B, SP4, ACTR5, IL6, CRACR2A, PRKAA2, SLC5A2, HFE, PRKAA1, COL13A1, GLP1R, GPT, GGT1, GCG, PPARG, PIK3CG, PIK3CD, PIK3CB, GATAD2A, OSBPL5, DPP4, RBP4, NLRP3, EHBP1L1, PIK3CA, SCD, FBL, ERBB4, DDX60L, SHBG, PWWP3A, PRKAB1, EHMT1, LIPA, APOC3, GGTLC3, CREB5, PPARGC1A, ZGLP1, GGTLC4P, CD36, SLC17A5, CNBP, XPR1, GGT2, TNF, FGF19, TP63, GGTLC5P, ALB, MIR34A, AHSG, GH1, GABPA, LBP, HAMP, FASN, REN, LGALS3BP, CCL2, FABP1, NR1H3, IL17A, MLXIPL, HSD17B13, HNF4A, CYP3A4, SIRT3, AGTR1, APOE, PON1, RARRES2, RETN, MTOR, LOC102724197, FETUB, UCP2, GGTLC1, NR0B2, DECR1, MTHFR, IL10, PCSK9, ACACA, TP53, ANGPTL8, SERPINE1, MIR192, SOD1, APOB, VDR, IRS2, HMGB1, LPL, RCBTB1, NR1I2, APRT, CNR1, SERPINA1, SOD2, TRIB1, FADS2, STAT3, IRS1, FOXO1, PPP1R3B, NR3C2, MFAP1, SELENOP, PLIN2, GOLGA6A, AKT1, PNPLA2, MIR33A, TXNIP, ABCD1, CYBB, HIF1A, FGL1, IL18, FLII, APP, SLC27A5, TNFSF10, APOA5, HSD11B1, TMC4, NRG4, IFNG, HP, CCR2, GCK, KLF6, CHPT1, ABCB11, EGFR, EPAS1, CASP1, MAP3K5, CETP, SPP1, FTO, VEGFA, IFNL3, CEBPA, FABP4, INSR, MIR29A, BGLAP, TLR2, COL1A1, MIR140, GDF15, CYP7A1, ABCA1, SMN2, ANPEP, ACLY, BCO2, SMN1, CXCL16, HMOX1, PRRT2, FST, NTS, NR1I3, TIMP2, TIMP1, CPT2, CMKLR1, HPGDS, MIR155, TERT, BMS1, NPC1L1, CTNNB1, GPX1, CYP4F3, SMUG1, BCL2A1, PARP1, MIR451A, BNIP3, NEAT1, MT1B, MMP2, OR10A4, PRL, MAPK8, MIR378A, NAMPT, SLC10A2, SAV1, AFP, BCO1, GIP, FGFR4, ARNTL, CXCL10, PRKCB, CAV1, AGER, BCL2, GOT2, DLAT, ADIPOR2, AGT, ACE2, GPBAR1, MMP13, CORIN, FAM3A, MC4R, YAP1, POSTN, ABCG5, IL25, MAS1, NLRC4, TLR6, MUC1, CCN4, CCN3, ADIPOR1, SCP2, TNFSF11, FAM3B, CCL20, LUC7L3, SELPLG, GDE1, HSD17B7, SLC2A1, SLC2A2, MLYCD, SLPI, TNFRSF11B, IL22, TRPV1, SPARC, SPTBN1, ATRNL1, STAT5A, STAT5B, TBK1, SETD2, TEK, PDLIM3, S100A8, ROCK1, SOCS1, UGT1A1, MYDGF, CCL27, ENPP1, MTMR11, PPIG, CD163, MEG3, NAT10, PTPA, ECD, USP10, SOCS3, SELENBP1, APLN, MAPK1, PRTN3, SIRT2, ELOVL2, RIPK1, PTGS1, PTPN1, LPIN1, MOK, CRNKL1, SPINK1, CEACAM1, CBR1, MIR375, CASP8, CASP3, FOXO3, FOS, CALCR, MIR146B, GC, GCGR, HCC, BCAT1, GLUL, NCF1, GPR119, AZGP1, BHLHE23, LYPLAL1, GRN, NR3C1, PDIA3, AVP, ATHS, ATF3, C1QTNF1, AR, MLKL, FCGR2B, FOXA1, FAT1, MIR20A, MIR222, MIR149, CYBA, CYP1A1, COX8A, MAP3K8, CYP2D6, MIR126, CHIT1, CES1, ENHO, IRGM, ATN1, PLIN5, FFAR4, ELANE, ELAVL2, CD68, SLC13A5, ESR1, ESRRA, CD5L, FNDC5, ACSL4, AQP9, MIR200C, HSP90AA1, STEAP4, ALPP, ALOX15, ALOX5, ALOX12, LCN2, LINC01672, CXCL8, FAS-AS1, IDH2, INS, ACOX1, ACACB, IGFALS, LECT2, DHRS11, ORAI1, HSPA1A, HSPA1B, GRK2, ASRGL1, PSC, ERLIN1, CXCR6, MIR331, TRPC4AP, PRPF31, RNF19A, CAMKK2, SIRT1-AS, EIF2AK4, WWTR1, TOR1AIP1, POLDIP2, MIR330, APPL1, TIPARP, OSBPL3, LINC01684, HULC, MIR30C1, FGF20, AHSA1, MIR206, MIR212, RBMS3, PRDX4, LNCARSR, MIR223, MIR23B, IL37, MIR24-1, MIR27A, NAAA, SORBS1, INTU, MIR27B, LOC110806263, MIR29B1, SIGLEC7, NOX1, MIR29B2, MIR29C, AATF, MIR30B, PRDX5, LATS2, MIR30C2, B4GALT1-AS1, TMEFF2, MIR367, PHLPP2, LOC100505909, MCF2L, TMED2, MIR1224, MPRIP, SLC27A2, LILRB4, SARM1, RIPK3, CD24, MIR190B, DKK1, TNFSF13B, SNHG20, ZHX2, MIR33B, MLXIP, MGLL, MIR590, DNLZ, VSIG4, ADAMTS13, MIR873, DUSP12, MIR205, OCLN, MIR193B, NMU, EBP, IFNL4, CISD2, IL17RA, TREH, YME1L1, MKRN1, DAPK2, MIR361, DDAH1, PARTICL, MMD, SRRM2, BRD4, ERVK-2, ANGPTL2, PLK4, HPSE, PGRMC1, SIRT4, MIR423, MIR20B, CRTC1, DUSP26, NOX4, MAT2B, ERBIN, PAG1, ACOT13, ZNF300, TIMD4, TBL1Y, WNT3A, FAM83A, MIR200B, LGALS14, UBQLN4, PNO1, CARD6, DGAT2, ADAMTS9, ALLC, TXNRD3, C1QTNF3, TWIST2, TRERF1, NLRP2, IFTAP, CHDH, FBXW7, CWF19L1, SLC47A1, CYP2R1, CPT1C, PPARGC1B, NADK2, FGFBP3, SLC38A8, PCBP4, MAK16, SMURF1, NCOA2, FRTS1, ELOVL6, WNK1, APOO, ARV1, GORASP1, XPO4, NSD1, ABCG8, NLRX1, KCTD17, TMBIM1, SMOC2, GSDMD, DHDDS, LRRC7, CIDEC, HKDC1, CPEB4, TRPV4, PGAP6, COASY, SPX, SESN2, TRAPPC9, ITCH, ANGPTL6, ARRDC3, SEMA6A, CHCHD6, ZFP90, CILP2, HJV, MIR142, MBTPS2, IRF2BP2, INSIG2, ABHD5, RTL1, C1QL3, LINC01194, MIR130A, MIR132, SOST, MIR136, MIR141, IL20, AACS, MIR143, ISYNA1, MIR144, MIR146A, DUOX2, SLC40A1, SLC2A8, DMGDH, CERS2, MIR150, MIR15B, MIR17, MIR185, REPIN1, CTNNA3, MYLIP, MOGAT3, CPP, APPL2, EGLN1, NUDT11, PDIK1L, PIWIL2, SIK1, SLC52A1, HORMAD2, SLC2A12, TMPRSS6, TET2, CROT, LINC01554, UNC5B, MARCHF8, UGT1A4, JAZF1, SIRT6, UGT1A6, UGT1A7, UGT1A8, UGT1A10, CCHCR1, ZBTB38, TREM1, BTBD8, DUOX1, BPIFA4P, HCAR2, C1QTNF9, ARID4B, STING1, ATG7, A2M, STK25, GCLC, FGF1, FGR, FOSB, FOSL2, G6PC, GALR1, GDNF, GPC3, GLB1, GLI2, SLC26A3, GLRX, GNA12, GNAI3, GNAO1, GPI, GPR31, FFAR2, GPS2, GSK3B, GPC4, FCGR3B, FCGR3A, FBN1, DUSP9, EDA, S1PR1, EEF1A1, EGF, EGR1, EIF4E, ENO3, EPHB2, EPHB6, EPO, ERN1, ESRRB, EZH2, F2RL1, FABP2, FABP5, ACSL1, PTK2B, GSTM2, H2AX, HADHB, IGF2, IGFBP2, IGFBP4, IGFBP7, IKBKB, IL2, CXCR2, INPP5D, INSIG1, IRF3, ITGAM, ITGB1, ITIH4, ITPR2, JAK1, JUN, JUNB, JUND, CD82, KRT8, IGFBP1, IFNA13, HADH, IFNA2, HCFC1, HLA-A, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DQB2, HLA-DRB1, NR4A1, FOXA2, HOXD13, HRG, PRMT1, HSPA4, HSPA5, HSPA8, HSPG2, HTR2A, TNC, IFNA1, DSPP, DPYSL3, LCP1, BMP4, ARG2, ARNT, ARRB1, ASNS, ATF4, BAAT, BAX, BCHE, BLVRA, BMP8B, DMD, TSPO, C3, CALCA, RUNX2, CCNC, CD44, CDC42, CDH1, CDK4, AREG, AQP7, KLK3, APOA2, ABO, ACAT1, ACTB, ADM, ADRB2, AEBP1, JAG1, AKT2, ALDOB, AKR1B1, AMD1, AMD1P2, ANGPT1, ANGPT2, AOX1, APOF, AIRE, XIAP, APOA1, CDK8, CDKN2A, CEL, CTNNA1, CTSB, CTSD, CTSG, CTSS, CYP2A6, CYP2B6, CYP2B7P, CYP2D7, CYP2J2, CYP4A11, CYP8B1, CYP19A1, CYP27B1, CYP51A1, DBP, DDOST, TIMM8A, DHCR7, DIO3, CTRL, CCN2, CHRM3, CTF1, CHUK, CIDEA, CLCN2, CNR2, COL3A1, SLC31A1, CP, CPN1, CPOX, CPS1, CREB1, ATF2, CREBBP, CRK, CRMP1, MAPK14, CSF3, CSF3R, CTAA1, LCAT, LGALS3, CAP1, VEGFC, UCP1, UCP3, SLC35A2, UGT1A, UGT2B4, USP4, UROD, UTRN, VCAM1, VIP, STAT1, BEST1, YY1, ZBTB16, LAP, PLA2G7, TFEB, AIMP2, STAM, FOSL1, TRAF3, TPO, TP53BP1, TNFRSF1A, SULT1E1, STK11, SYT1, ADAM17, MAP3K7, TAZ, TCF7L2, TFAM, TFF3, TG, TGFB1I1, THRSP, TIMP3, TLL1, TLR1, NR2E1, TM7SF2, TMPO, TNFAIP3, FGF23, SLC7A5, BAS, TMPRSS11D, GGPS1, ATG5, LITAF, CLOCK, ABCG1, KEAP1, PLPPR4, MFN2, PARP2, DNM1L, PPIF, LRPPRC, SLC25A13, PRMT3, PLIN3, FSTL3, ZNF267, AKR1A1, MERTK, EIF2AK3, GRAP2, PLA2G6, COX5A, PIK3R3, CYP4F2, DENR, RTCA, DGAT1, ABCC3, MBTPS1, TNFSF14, DLK1, TRIM24, CES2, HDAC3, SQSTM1, MBD2, CCRL2, MYOM2, HACD1, NOG, GLP2R, STAT6, STAR, LIPE, P2RX5, NBN, NEU1, NHS, NNMT, NOS2, NOS3, NOTCH1, NRF1, NUCB2, P4HA1, AKR1D1, PAPPA, PC, PCK1, PDGFRB, SERPINA4, SERPINB6, PIGR, PITX3, PKM, HNRNPM, MYD88, MYC, ND6, FADS1, LNPEP, LOXL2, LRP6, LTF, LUM, SMAD7, MAT1A, DNAJB9, MEFV, MET, MIF, CXCL9, MMP9, MPI, MPO, MPST, MRC1, MST1, PKNOX1, PLCG1, PLG, CCL19, SELL, SELP, SETMAR, SFRP4, SFRP5, SRSF3, ST3GAL4, SLC2A4, SLC3A2, SLC6A2, SLC10A1, SLC13A1, SMPD1, SIGLEC1, SNAI1, SORD, SP1, SPRR2A, SQLE, CXCL5, CCL17, PLTP, CCL5, PMCH, PPP1R3C, PRKDC, MAPK3, MAP2K7, PRLR, PTBP1, PTGFRN, PTPN6, PTPRC, PTX3, RARA, OPN1LW, RELA, RLN2, BRD2, RPS6KB1, SORT1, S100A4, H3P10
    • Non-Alcoholic Fatty Liver Disease Wikipedia
      Specialty Hepatology Symptoms Asymptomatic , liver dysfunction Complications Cirrhosis , liver cancer , liver failure , cardiovascular disease [2] [3] Duration Long term Types Non-alcoholic fatty liver (NAFL), non-alcoholic steatohepatitis (NASH) [3] [4] Causes Genetic, environmental Risk factors Obesity , metabolic syndrome , type 2 diabetes mellitus , liver disease Diagnostic method Liver biopsy Treatment Weight loss (diet and exercise) [3] [5] Prognosis Depends on type [6] Frequency 24% in worldwide population, 80% in obese, 20% in normal-weight Deaths NASH: 2.6% risk of death per year [4] Non-alcoholic fatty liver disease ( NAFLD ), also known as metabolic (dysfunction) associated fatty liver disease ( MAFLD ), is excessive fat build-up in the liver without another clear cause such as alcohol use . [2] [3] There are two types; non-alcoholic fatty liver ( NAFL ) and non-alcoholic steatohepatitis ( NASH ), with the latter also including liver inflammation . [3] [4] [6] Non-alcoholic fatty liver disease is less dangerous than NASH and usually does not progress to NASH or liver cirrhosis . [3] When NAFLD does progress to NASH, it may eventually lead to complications such as cirrhosis, liver cancer , liver failure , cardiovascular disease . [3] [7] Obesity and type 2 diabetes are strong risk factors for NAFLD. [5] Other risks include being overweight , metabolic syndrome (defined as at least three of the five following medical conditions: abdominal obesity, high blood pressure , high blood sugar , high serum triglycerides , and low serum HDL cholesterol ), a diet high in fructose , and older age. [6] NAFLD and alcoholic liver disease are types of fatty liver disease . [6] Obtaining a sample of the liver after excluding other potential causes of fatty liver can confirm the diagnosis. [2] [5] [6] Treatment for NAFLD is weight loss by dietary changes and exercise. [4] [8] [9] There is tentative evidence for pioglitazone and vitamin E ; [3] [10] [11] bariatric surgery can improve or resolve severe cases. [8] [12] Those with NASH have a 2.6% increased risk of dying per year. [4] NAFLD is the most common liver disorder worldwide and is present in approximately 25% of the world's population. [13] It is also very common in developed nations, such as the United States, and affected about 75 to 100 million Americans in 2017. [14] [15] [16] [17] Over 90% of obese, 60% of diabetic , and up to 20% normal-weight people develop it. [18] [19] NAFLD is the leading cause of chronic liver disease [17] [18] and the second most common reason for liver transplantation in the US and Europe as of 2017. [8] NAFLD affects about 20 to 25% of people in Europe. [12] In the United States, estimates suggest between 30 and 40% of adults have NAFLD, and about 3 to 12% of adults have NASH. [3] The annual economic burden was approximately US$103 billion in the US in 2016. [18] Contents 1 Definition 2 Signs and symptoms 2.1 Comorbidities 3 Risk factors 3.1 Genetics 3.2 Diet 4 Pathophysiology 4.1 Fructose consumption 4.2 Insulin resistance 4.3 Dysbiosis 5 Diagnosis 5.1 Blood tests 5.2 Imaging 5.3 Liver biopsy 6 Management 6.1 Lifestyle 6.1.1 Diet 6.1.2 Physical activity 6.2 Medication 6.3 Surgery 6.4 Screening 6.5 Transplantation 6.6 Related complications 7 Prognosis 8 Epidemiology 9 History 10 Society and culture 10.1 Political recommendations 10.2 Lobbying 11 Children 12 Research 12.1 Diagnosis and biomarkers 12.2 Medication development 13 See also 14 References 15 External links Definition [ edit ] An abnormal accumulation of fat in the liver in the absence of secondary causes of fatty liver, such as significant alcohol use , viral hepatitis , or medications that can induce fatty liver characterizes non-alcoholic fatty liver disease (NAFLD). [13] The term NAFLD encompasses a continuum of liver abnormalities, from non-alcoholic fatty liver (NAFL, simple steatosis) to non-alcoholic steatohepatitis (NASH). ... A 2019 systematic review thus suggests a change of guidelines to recommend these therapies for NAFLD management. [53] Diet [ edit ] Treatment of NAFLD typically involves counseling to improve nutrition and calorie restriction . [7] [51] [56] People with NAFLD can benefit from a moderate to low-carbohydrate diet and a low-fat diet. [7] [57] The Mediterranean diet also showed promising results in a 6-week study with a reduction of NASH induced inflammation and fibrosis, independently from weight loss. [7] [12] [55] [58] Tentative evidence supports dietary interventions in individuals with fatty liver who are not overweight. [59] The EASL recommends energy restriction of 500–1000 kcal per week less than the normal daily diet (a very-low-calorie diet ), a target of 7–10% weight loss for obese/overweight NAFLD, a low- to moderate-fat, and moderate- to high-carbohydrate diet, or a low-carbohydrate ketogenic or high-protein diet such as the Mediterranean diet, and avoiding all beverages and food containing fructose. [12] Alcohol is an aggravating factor, and the AASLD recommends that people with NAFLD or NASH avoid alcohol consumption. [4] [7] [10] [60] The EASL allows alcohol consumption below 30g/day for men and 20g/day for women. [12] The role of coffee consumption for NAFLD treatment is unclear though some studies indicate that regular coffee consumption may have protective effects. [12] [61] [62] Vitamin E does not improve established liver fibrosis in those with NAFLD but seems to improve certain markers of liver function and reduces inflammation and fattiness of the liver in some people with NAFLD. [4] [7] [10] The Asia-Pacific Work Group advises that Vitamin E may improve liver condition and aminotransferase levels, but only in adults without diabetes or cirrhosis who have NASH. [8] The NICE guidelines recommend Vitamin E as an option for children and adults with NAFLD with advanced liver fibrosis, regardless of whether the person has diabetes mellitus. [7] [10] Herbal compounds such as silymarin (a milk thistle seed extract), [63] curcumin, a turmeric extract , [64] and green tea appear to improve NAFLD biomarkers and reduce the grade of NAFLD. [34] Studies suggest an association between microscopic organisms that inhabit the gut (microbiota) and NAFLD. ... In terms of pharmacological treatment, the AASLD and EASL do not recommend metformin, but vitamin E may improve liver health for some children. [4] [12] The NICE advises the use of vitamin E for children with advanced liver fibrosis, whether they have diabetes or not. [10] The only treatment shown to be effective in childhood NAFLD is weight loss. [122] Some evidence indicates that maternal undernutrition or overnutrition increases a child's susceptibility to NASH and hastens its progression. [123] Research [ edit ] Diagnosis and biomarkers [ edit ] Since a NAFLD diagnosis based on a liver biopsy is invasive and makes it difficult to estimate epidemiology, it is a high research priority to find accurate, inexpensive, and noninvasive methods of diagnosing and monitoring NAFLD disease and its progression. [24] [124] The search for these biomarkers of NAFLD, NAFL, and NASH involves lipidomics , medical imaging , proteomics , blood tests, and scoring systems. [24] According to a review, proton density fat fraction estimation by magnetic resonance imaging (MRI-PDFF) may be considered the most accurate an
  • Hyperplasia Wikipedia
    Aplasia (organ or part of organ missing) Desmoplasia (connective tissue growth) Dysplasia (change in cell or tissue phenotype ) Hyperplasia (proliferation of cells) Hypoplasia (congenital below-average number of cells, especially when inadequate) Metaplasia (conversion in cell type) Neoplasia (abnormal proliferation) Prosoplasia (development of new cell function) Abiotrophy (loss in vitality of organ or tissue) Atrophy (reduced functionality of an organ, with decrease in the number or volume of cells) Hypertrophy (increase in the volume of cells or tissues) Hypotrophy (decrease in the volume of cells or tissues) Dystrophy (any degenerative disorder resulting from improper or faulty nutrition) v t e Contents 1 Causes 2 Mechanism 3 Diagnosis 3.1 Types 4 Treatment 5 See also 6 References 7 Further reading 8 External links Causes [ edit ] Hyperplasia may be due to any number of causes, including proliferation of basal layer of epidermis to compensate skin loss, chronic inflammatory response , hormonal dysfunctions , or compensation for damage or disease elsewhere. [9] Hyperplasia may be harmless and occur on a particular tissue. ... ISBN 978-1416026129 . ^ a b Dunphy, Lynne M.; Winland-Brown, Jill E. (2011-04-06). Primary Care: The Art and Science of Advanced Practice Nursing . ... External links [ edit ] Classification D MeSH : D006965 SNOMED CT : 76197007 External resources MedlinePlus : 003441 Scholia has a topic profile for Hyperplasia . v t e Overview of tumors , cancer and oncology Conditions Benign tumors Hyperplasia Cyst Pseudocyst Hamartoma Malignant progression Dysplasia Carcinoma in situ Cancer Metastasis Primary tumor Sentinel lymph node Topography Head and neck ( oral , nasopharyngeal ) Digestive system Respiratory system Bone Skin Blood Urogenital Nervous system Endocrine system Histology Carcinoma Sarcoma Blastoma Papilloma Adenoma Other Precancerous condition Paraneoplastic syndrome Staging / grading TNM Ann Arbor Prostate cancer staging Gleason grading system Dukes classification Carcinogenesis Cancer cell Carcinogen Tumor suppressor genes / oncogenes Clonally transmissible cancer Oncovirus Carcinogenic bacteria Misc. Research Index of oncology articles History Cancer pain Cancer and nausea v t e Pathology Principles of pathology Disease Infection Neoplasia Cause Pathogenesis Hemodynamics Ischemia Inflammation Cell damage Wound healing Cellular adaptation Atrophy Hypertrophy Hyperplasia Dysplasia Metaplasia Squamous Glandular Cell death Necrosis Coagulative necrosis Liquefactive necrosis Gangrenous necrosis Caseous necrosis Fat necrosis Fibrinoid necrosis Myocytolysis Programmed cell death Apoptosis Pyknosis Karyorrhexis Karyolysis Accumulations pigment Hemosiderin Lipochrome / Lipofuscin Melanin Steatosis Anatomical pathology Surgical pathology Cytopathology Autopsy Molecular pathology Forensic pathology Oral and maxillofacial pathology Gross examination Histopathology Immunohistochemistry Electron microscopy Immunofluorescence Fluorescence in situ hybridization Clinical pathology Clinical chemistry Hematopathology Transfusion medicine Medical microbiology Diagnostic immunology Immunopathology Enzyme assay Mass spectrometry Chromatography Flow cytometry Blood bank Microbiological culture Serology
    TGFB1, CCND1, MMP9, HMOX1, IL13, LEP, OGG1, PTGS2, HIF1A, TCF7L2, ZFP36, MAPK6, GLP1R, PRG4, NFE2L2, MYCN, MAT1A, KDM1A, LDLR, KCNK1, BRD4, IL9, HSPB1, RLN3, PIK3CA, AKT1, MIR340, COL2A1, EGFR, MMP2, PAM, TGFBR2, CCNB1, MMP1, CDKN1A, ASCL1, IKBKB, CSK, CDKN2A, TP53, KRAS, PTEN, CAV1, VDR, PLAU, LHCGR, IRS1, GJA1, STAR, CASR, IRS2, PDE11A, RET, XIAP, BCL2, IL25, TGFA, KRT75, TERT, NOD2, SOD1, SHBG, SCG5, SCN9A, SAA1, S100A9, BLM, TNFRSF13B, TNF, TNFAIP3, AREG, TNFRSF10D, TNFSF10, TP63, TNFSF13B, IRS4, AR, SLC7A5, CXCR4, VGF, VEGFC, VEGFA, RXRA, KLK3, TPMT, TP73, CCN5, RXRG, EPOR, RLN2, HGF, IL15, CHGA, IL4, CCN1, IGFBP3, IGF1, HTR4, HBEGF, GPX1, RLN1, GNAS, EPO, FPR2, FN1, FOXO3, FOXO1, FGF2, EZH2, INSL3, ITGB1, CDKN2B, KRT5, PTK2, BMPR2, PTGIR, CALB2, PRKAR1A, ESR2, PLAUR, PAPPA, SERPINE1, P2RX7, OXTR, CD34, MUC5AC, APEX1, MEN1, CDH1, MARCKS, POMC
  • Cholinergic Urticaria Wikipedia
    Archives of Dermatology . 123 (4): 462–467. doi : 10.1001/archderm.1987.01660280064024 . PMID 3827277 . ^ Poon, E.; Seed, P. T.; Greaves, M. W.; Kobza-Black, A. (1999). ... "Successful treatment of cholinergic urticaria with anti-immunoglobulin E therapy". Allergy . 63 (2): 247–249. doi : 10.1111/j.1398-9995.2007.01591.x . ... PMID 2973859 . ^ Ammann, P.; Surber, E.; Bertel, O. (1999). "Beta blocker therapy in cholinergic urticaria". ... External links [ edit ] Classification D ICD - 10 : L50.5 ICD - 9-CM : 708.5 DiseasesDB : 29573 External resources eMedicine : derm/442 v t e Urticaria and erythema Urticaria ( acute / chronic ) Allergic urticaria Urticarial allergic eruption Physical urticaria Cold urticaria Familial Primary cold contact urticaria Secondary cold contact urticaria Reflex cold urticaria Heat urticaria Localized heat contact urticaria Solar urticaria Dermatographic urticaria Vibratory angioedema Pressure urticaria Cholinergic urticaria Aquagenic urticaria Other urticaria Acquired C1 esterase inhibitor deficiency Adrenergic urticaria Exercise urticaria Galvanic urticaria Schnitzler syndrome Urticaria-like follicular mucinosis Angioedema Episodic angioedema with eosinophilia Hereditary angioedema Erythema Erythema multiforme / drug eruption Erythema multiforme minor Erythema multiforme major Stevens–Johnson syndrome , Toxic epidermal necrolysis panniculitis ( Erythema nodosum ) Acute generalized exanthematous pustulosis Figurate erythema Erythema annulare centrifugum Erythema marginatum Erythema migrans Erythema gyratum repens Other erythema Necrolytic migratory erythema Erythema toxicum Erythroderma Palmar erythema Generalized erythema
    CLEC10A, MGLL, SERPINA3, CEACAM5
  • Hypogonadotropic Hypogonadism Wikipedia
    The mechanism for this reversal is unknown but there is believed to be some neuronal plasticity within GnRH releasing cells. [4] See also [ edit ] Isolated hypogonadotropic hypogonadism Hypergonadotropic hypogonadism Kallmann syndrome Hypothalamic–pituitary–gonadal axis GnRH and gonadotropins ( FSH and LH ) androgens and estrogens References [ edit ] ^ a b c d e f Basaria S (2014). "Male hypogonadism". ... The New England Journal of Medicine . 366 (7): 629–635. doi : 10.1056/NEJMoa1111184 . hdl : 2263/18519 . PMID 22335740 . ^ a b c d e f g h i Boehm U, Bouloux P, Dattani M, de Roux N, Dodé C, Dunkel L, Dwyer A, Giacobini P, Hardelin J, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J (2015). ... PMC 3583156 . PMID 23503957 . ^ a b c d e f g h Silveira L, Latronico A (2013). ... External links [ edit ] Classification D ICD - 10 : N91.1 External resources MedlinePlus : 000390 v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
    TACR3, GNRHR, GNRH1, TAC3, NR0B1, LHB, FSHB, KISS1R, LEP, LEPR, NR5A1, KISS1, PRL, CYP19A1, SLC29A3, POLD1, CYP17A1, CGB3, CSHL1, FGFR1, GHRH, SOX2, ANOS1, POLR3A, PROKR2, FGF8, PROP1, CHD7, PROK2, POLR3B, PNPLA6, NSMF, NDN, SEMA3A, RNF216, HS6ST1, FGF17, SRY, GJB2, AXL, CCDC141, TYMP, WDR11, UBA6-AS1, TFR2, SRA1, PWAR1, SEMA3E, GTF2IRD1, NTN1, HJV, SNORD116-1, SNORD115-1, CTDP1, PWRN1, AIP, BAZ1B, HERC2, MKRN3-AS1, HESX1, PTCH2, TP63, LZTR1, MKRN3, WT1, CLIP2, FEZF1, DNAL4, ZMPSTE24, A2ML1, RBM28, IL17RD, MAGEL2, HDAC8, CDH23, DCAF17, SUFU, SOX10, SPRY4, LAS1L, DHH, RRM2B, TBL2, GPR101, RAB3GAP2, FLRT3, NPAP1, KAT6B, PLXND1, RAB3GAP1, MRAS, CBX2, LHX4, SOS1, RNU4ATAC, SOX9, OTX2, POU1F1, ELN, POLG, PMM2, PDGFB, PCSK1, GLI2, GTF2I, SIX6, PTPN11, HFE, NRAS, HSD17B3, NF2, IPW, MEN1, MAP3K1, KRAS, LMNA, PTCH1, RAD51, RAF1, SOX3, SOS2, SNRPN, ANK1, SMARCB1, BMP2, BRAF, RRAS, BRD2, RIT1, CTNNB1, DCC, RFC2, REV3L, DMRT1, DUSP6, RASA2, LIMK1, AR, GH1, ESRRB, GK, MPZ, SERPINA4, VDR, SHBG, PMP22, GGN, NRP2, BECN1, DAZ1, PDE5A, CTLA4, CBLL2, NEUROG3, S1PR1, CPE, IGSF10, S100A4, TYRO3, AMH, NRP1, POMC, CD274, SCO2, FGF2, FGF3, MUL1, FGF9, FGF10, MSTN, TUBB3, PRKN, NT5E, NGF, IGF1, STAR, MC4R, ADH5
    • Hypogonadism Wikipedia
      Clomifene at much higher doses is used to induce ovulation and has significant adverse effects in such a setting. v t e Androgen replacement therapy formulations and dosages used in men Route Medication Major brand names Form Dosage Oral Testosterone a – Tablet 400–800 mg/day (in divided doses) Testosterone undecanoate Andriol, Jatenzo Capsule 40–80 mg/2–4x day (with meals) Methyltestosterone b Android, Metandren, Testred Tablet 10–50 mg/day Fluoxymesterone b Halotestin, Ora-Testryl, Ultandren Tablet 5–20 mg/day Metandienone b Dianabol Tablet 5–15 mg/day Mesterolone b Proviron Tablet 25–150 mg/day Buccal Testosterone Striant Tablet 30 mg 2x/day Methyltestosterone b Metandren, Oreton Methyl Tablet 5–25 mg/day Sublingual Testosterone b Testoral Tablet 5–10 mg 1–4x/day Methyltestosterone b Metandren, Oreton Methyl Tablet 10–30 mg/day Intranasal Testosterone Natesto Nasal spray 11 mg 3x/day Transdermal Testosterone AndroGel, Testim, TestoGel Gel 25–125 mg/day Androderm, AndroPatch, TestoPatch Non-scrotal patch 2.5–15 mg/day Testoderm Scrotal patch 4–6 mg/day Axiron Axillary solution 30–120 mg/day Androstanolone ( DHT ) Andractim Gel 100–250 mg/day Rectal Testosterone Rektandron, Testosteron b Suppository 40 mg 2–3x/day Injection ( IM or SC ) Testosterone Andronaq, Sterotate, Virosterone Aqueous suspension 10–50 mg 2–3x/week Testosterone propionate b Testoviron Oil solution 10–50 mg 2–3x/week Testosterone enanthate Delatestryl Oil solution 50–250 mg 1x/1–4 weeks Xyosted Auto-injector 50–100 mg 1x/week Testosterone cypionate Depo-Testosterone Oil solution 50–250 mg 1x/1–4 weeks Testosterone isobutyrate Agovirin Depot Aqueous suspension 50–100 mg 1x/1–2 weeks Testosterone phenylacetate b Perandren, Androject Oil solution 50–200 mg 1x/3–5 weeks Mixed testosterone esters Sustanon 100, Sustanon 250 Oil solution 50–250 mg 1x/2–4 weeks Testosterone undecanoate Aveed, Nebido Oil solution 750–1,000 mg 1x/10–14 weeks Testosterone buciclate a – Aqueous suspension 600–1,000 mg 1x/12–20 weeks Implant Testosterone Testopel Pellet 150–1,200 mg/3–6 months Notes: Men produce about 3 to 11 mg testosterone per day (mean 7 mg/day in young men). ... Retrieved 19 Dec 2016 . ^ Mulhall, John P.; Trost, Landon W.; Brannigan, Robert E.; Kurtz, Emily G.; Redmon, J. Bruce; Chiles, Kelly A.; Lightner, Deborah J.; Miner, Martin M.; Murad, M. ... ISSN 0022-5347 . PMID 29601923 . ^ a b Nieschlag E, Swerdloff R, Behre HM, Gooren LJ, Kaufman JM, Legros JJ, Lunenfeld B, Morley JE, Schulman C, Wang C, Weidner W, Wu FC (2006). ... MedlinePlus Encyclopedia : Hypogonadism Hypogonadism at eMedicine Classification D ICD - 10 : E28.3 , E29.1 , E23.0 ICD - 9-CM : 257.2 OMIM : 146110 MeSH : D007006 DiseasesDB : 21057 External resources MedlinePlus : 001195 eMedicine : article/922038 GeneReviews : Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview v t e Gonadal disorder Ovarian Polycystic ovary syndrome Premature ovarian failure Estrogen insensitivity syndrome Hyperthecosis Testicular Enzymatic 5α-reductase deficiency 17β-hydroxysteroid dehydrogenase deficiency aromatase excess syndrome Androgen receptor Androgen insensitivity syndrome Familial male-limited precocious puberty Partial androgen insensitivity syndrome Other Sertoli cell-only syndrome General Hypogonadism Delayed puberty Hypergonadism Precocious puberty Hypoandrogenism Hypoestrogenism Hyperandrogenism Hyperestrogenism Postorgasmic illness syndrome Cytochrome P450 oxidoreductase deficiency Cytochrome b5 deficiency Androgen-dependent condition Aromatase deficiency Complete androgen insensitivity syndrome Mild androgen insensitivity syndrome Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism Fertile eunuch syndrome Estrogen-dependent condition Premature thelarche Gonadotropin insensitivity Hypergonadotropic hypergonadism
  • Muir–torre Syndrome Wikipedia
    Muir–Torre syndrome Other names MTS Micrograph of a sebaceous adenoma , as may be seen in Muir–Torre syndrome. H&E stain . Specialty Oncology , dermatology , medical genetics Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome [1] : 663 that is thought to be a subtype of HNPCC . ... CS1 maint: multiple names: authors list ( link ) ^ Kleinerman R, Marino J, Loucas E (May 2012). "Muir–Torre Syndrome / Turcot Syndrome overlap? ... CS1 maint: multiple names: authors list ( link ) External links [ edit ] Classification D OMIM : 158320 MeSH : D055653 DiseasesDB : 31385 External resources eMedicine : derm/275 Orphanet : 587 v t e Cancers of skin and associated structures Glands Sweat gland Eccrine Papillary eccrine adenoma Eccrine carcinoma Eccrine nevus Syringofibroadenoma Spiradenoma Apocrine Cylindroma Dermal cylindroma Syringocystadenoma papilliferum Papillary hidradenoma Hidrocystoma Apocrine gland carcinoma Apocrine nevus Eccrine / apocrine Syringoma Hidradenoma or Acrospiroma / Hidradenocarcinoma Ceruminous adenoma Sebaceous gland Nevus sebaceous Muir–Torre syndrome Sebaceous carcinoma Sebaceous adenoma Sebaceoma Sebaceous nevus syndrome Sebaceous hyperplasia Mantleoma Hair Pilomatricoma / Malignant pilomatricoma Trichoepithelioma Multiple familial trichoepithelioma Solitary trichoepithelioma Desmoplastic trichoepithelioma Generalized trichoepithelioma Trichodiscoma Trichoblastoma Fibrofolliculoma Trichilemmoma Trichilemmal carcinoma Proliferating trichilemmal cyst Giant solitary trichoepithelioma Trichoadenoma Trichofolliculoma Dilated pore Isthmicoma Fibrofolliculoma Perifollicular fibroma Birt–Hogg–Dubé syndrome Hamartoma Basaloid follicular hamartoma Folliculosebaceous cystic hamartoma Folliculosebaceous-apocrine hamartoma Nails Neoplasms of the nailbed v t e Metabolic disease : DNA replication and DNA repair-deficiency disorder DNA replication Separation/initiation: RNASEH2A Aicardi–Goutières syndrome 4 Termination/ telomerase : DKC1 Dyskeratosis congenita DNA repair Nucleotide excision repair Cockayne syndrome / DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome MSI / DNA mismatch repair Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome MRN complex Ataxia telangiectasia Nijmegen breakage syndrome Other RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome / Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency
    MLH1, MSH2, MSH6, FHIT, MRC1, MUTYH, MYH1, PMS2
    • Muir-Torre Syndrome Orphanet
      Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.
    • Muir-Torre Syndrome OMIM
      A number sign (#) is used with this entry because of evidence that Muir-Torre syndrome is part of the Lynch cancer family syndrome II (see 120435), which has been related to mutation in the MSH2 gene (609309) on chromosome 2p. MRTES can also be caused by mutation in the MLH1 gene (120436) on chromosome 3p. Clinical Features Muir-Torre syndrome represents the association of sebaceous skin tumors with internal malignancy. The Gardner and Peutz-Jeghers syndromes are examples of skin-polyposis syndromes. Polyps of the stomach have been reported with the basal cell nevus syndrome (109400).
    • Muir-Torre Syndrome GARD
      Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer ), followed by the genitourinary tract . Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition.
  • Neuroacanthocytosis Wikipedia
    Known genetic mutations provide a basis for studying some of the conditions. [5] References [ edit ] ^ Reiss, Ulrike M., Pedro A. De Alacron, and Frank E. Shafer. " Acanthocytosis: eMedicine Pediatrics: General Medicine. " EMedicine - Medical Reference (2010). 7 August 2008. 8 February 2010. ^ a b c d e Walker, RH; Jung, HH; Danek, A (2011). ... Chicago. 19 (4): 403–409. doi : 10.1001/archneur.1968.00480040069007 . PMID 5677189 . ^ E. M. R. Critchley, et al. "Acanthocytosis, normolipoproteinemia and multiple tics" Postgraduate Medical Journal, Leicester, 1970, 46: 698-701. ^ Ole Daniel Enersen. " Levine Critchley syndrome ." ... Chromosome+disorders at the US National Library of Medicine Medical Subject Headings (MeSH) v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22
    VPS13A, XK, ORAI1, PANK2, JPH3, ACTB, STIM1, ATXN7, ERAL1, VAMP8, TBP, TAC1, SLC6A2, SELP, PIK3CG, CACNA1A, PIK3CD, PIK3CB, PIK3CA, ATXN3, KCNA6, KCNA5, KCNA1, GCH1, ESR1, EPHB1, ELK3, CRP, TRAP
    • Chorea-Acanthocytosis GeneReviews
      Abetalipoproteinemia (ABL) and hypobetalipoproteinemia (HBL) share acanthocytosis with ChAc and MLS, as well as the presence of dysarthria, neuropathy, and areflexia, but differ in their hallmark findings of pigmentary retinopathy, vitamin E deficiency, steatorrhea, and absence of basal ganglia movement disorder.
    • Chorea Acanthocytosis Wikipedia
      Rare autosomal recessive genetic condition Neuroacanthocytosis Other names Acanthocytosis with neurologic disorder, Levine-Critchley syndrome, ChAc This condition is inherited via autosomal recessive manner Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis ), [1] is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells . It belongs to a group of four diseases characterized under the name neuroacanthocytosis . [2] When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes . Other effects of the disease may include epilepsy , behaviour changes, muscle degeneration, and neuronal degradation similar to Huntington's disease . The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death. Chorea-acanthocytosis is a very complex autosomal recessive adult-onset neurodegenerative disorder.
    • Neuroacanthocytosis Orphanet
      Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. Epidemiology NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5/1,000,000 for each disorder. Clinical description NA syndromes include choreacanthocytosis, McLeod neuroacanthocytosis syndrome, pantothenate-kinase-associated neurodegeneration, and Huntington disease-like 2 (see these terms) which have a Huntington disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. Cardiomyopathy including arrhythmias may occur in McLeod syndrome. Etiology NA syndromes are caused by disease-specific genetic mutations. The mechanisms by which these mutations cause neurodegeneration are not known.
    • Neuroacanthocytosis GARD
      Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type.
    • Chorea-Acanthocytosis GARD
      Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements ( chorea ), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive.
    • Choreoacanthocytosis Orphanet
      Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. Epidemiology Prevalence and incidence are not known, but it is estimated that there are around 1,000 cases worldwide. ChAc appears to be more prevalent in Japan, possibly due to a founder effect, and clusters have been found elsewhere in geographically isolated communities (e.g. French-Canadian population). Clinical description Onset is in early adulthood and the initial presentation is often subtle cognitive or psychiatric symptoms. However, patients may have developed related psychiatric disorders several years before neurological manifestations.
    • Chorea-Acanthocytosis MedlinePlus
      Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells. In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat.
    • Choreoacanthocytosis OMIM
      A number sign (#) is used with this entry because choreoacanthocytosis can be caused by homozygous or compound heterozygous mutation in the VPS13A gene (605978), which encodes chorein, on chromosome 9q21. Description Choreoacanthocytosis (CHAC) is a rare disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder. Clinical Features Critchley et al. (1967, 1968) described an adult form of acanthocytosis associated with neurologic abnormalities and apparently normal serum lipoproteins. The proband had onset in his mid-twenties of generalized weakness and involuntary movements, including grimacing, dystonia, and chorea.
  • Junctional Epidermolysis Bullosa (Medicine) Wikipedia
    The graft had integrated into the lower layers of skin within a month, and the modified epidermal stem cells sustained this transgenic epidermis, curing the boy. [11] The introduction of genetic changes could increase the chances of skin cancer in other patients, but if the treatment is deemed safe in the long term, scientists believe the approach could be used to treat other skin disorders. [12] The use of gentamicin has been shown to provide some attenuation of this disease. [13] See also [ edit ] Epidermolysis bullosa Junctional epidermolysis bullosa (veterinary medicine) Skin lesion References [ edit ] ^ a b c d e Freedberg IM, Fitzpatrick TB (2003). ... Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa" . ... Dermatology 1-8 External links [ edit ] Classification D ICD - 10 : Q81.8 ( ILDS Q81.850) ICD - 9-CM : 757.39 OMIM : 226700 226650 226730 MeSH : D016109 DiseasesDB : 29579 External resources GeneReviews : Junctional Epidermolysis Bullosa GeneReview/NIH/UW entry on Junctional Epidermolysis Bullosa v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark v t e Diseases of collagen , laminin and other scleroproteins Collagen disease COL1 : Osteogenesis imperfecta Ehlers–Danlos syndrome, types 1, 2, 7 COL2 : Hypochondrogenesis Achondrogenesis type 2 Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, Strudwick type Kniest dysplasia (see also C2/11 ) COL3 : Ehlers–Danlos syndrome, types 3 & 4 Sack–Barabas syndrome COL4 : Alport syndrome COL5 : Ehlers–Danlos syndrome, types 1 & 2 COL6 : Bethlem myopathy Ullrich congenital muscular dystrophy COL7 : Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (see also C2/11 ) COL17: Bullous pemphigoid COL18: Knobloch syndrome Laminin Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome Other Congenital stromal corneal dystrophy Raine syndrome Urbach–Wiethe disease TECTA DFNA8/12, DFNB21 see also fibrous proteins
    LAMA3, LAMB3, LAMC2, ITGB4, COL17A1, ITGA3, LAD1, DST, COL7A1, EGF, CXCL8, LAMA5, LAMC1, YAP1, EXPH5, PLA1A
    • Junctional Epidermolysis Bullosa GeneReviews
      Extensive widespread blistering and granulation tissue on ear Figure 2. JEB generalized intermediate e. Minor nail dystrophy in an older child Establishing the Diagnosis The diagnosis of JEB is established in a proband with one or both of the following: Identification by molecular genetic testing of biallelic pathogenic variants in one of the genes listed in Table 1 Skin biopsy using transmission electron microscopy (TEM) and/or immunofluorescent antibody/antigen mapping (see Skin Biopsy) Note: Genetic testing is the preferred diagnostic method. ... A tertiary layer that usually has some elastic properties and ensures the integrity of the dressing (e.g., Coban ® or elasticized tube gauze of varying diameters such as Band Net ® or Tubifast ® ) Treatment of granulation tissue can be attempted with high-potency topical steroids, silver nitrate, electrocautery, or autologous skin grafts.
    • Junctional Epidermolysis Bullosa GARD
      Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa , a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type . The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3 , COL17A1 , or LAMC2 , and LAMA3 genes.There is no cure for JEB.
    • Junctional Epidermolysis Bullosa, Generalized Intermediate Orphanet
      Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. Epidemiology Prevalence is unknown. The generalized form accounts for the vast majority of JEB-nH cases. Clinical description The condition is clinically apparent at birth. Skin blistering is generalized and healing can occur either with atrophic scars, sometimes accompanied by hypopigmentation or hyperpigmentation or, less commonly, with the formation of exuberant granulation tissue. Nail dystrophy or loss is a constant feature, focal keratoderma can develop over time. Progressive and permanent hair loss is frequently present, affecting the scalp, eyelashes and eyebrows; pubic and axillary hair are scant or do not fully develop.
    • Junctional Epidermolysis Bullosa Orphanet
      Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. Epidemiology JEB is the less common, but frequently early lethal form of EB. Incidence data from the U.S. and Italian EB registries indicate 1/450,000 and 1/260,000 live births, respectively. Clinical description Onset is usually at birth with the exception of late-onset JEB. Several JEB subtypes have been described based on clinical features. All subtypes are characterized by the presence of enamel hypoplasia manifesting as localized or more extensive thimble-like pitting of some or all of the tooth surfaces.
    • Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type Orphanet
      Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails. Epidemiology Prevalence is unknown. Fewer than 20 cases have been described. Clinical description Onset is at birth or soon thereafter. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings comprise mild nail dystrophy, dental enamel hypoplasia, and an increased incidence of caries. Primary hair is normal, while axillary and pubic hair can be sparse. Etiology Localized non-Herlitz junctional epidermolysis bullosa is caused by mutations in the type XVII collagen gene : COL17A1 (10q24.3).
  • Nonbacterial Thrombotic Endocarditis Wikipedia
    . ^ " nonbacterial thrombotic endocarditis " at Dorland's Medical Dictionary External links [ edit ] Classification D MeSH : D059905 DiseasesDB : 29250 External resources eMedicine : article/155230 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever v t e Paraneoplastic syndromes Endocrine Hypercalcaemia SIADH Zollinger–Ellison syndrome Cushing's syndrome Hematological Multicentric reticulohistiocytosis Nonbacterial thrombotic endocarditis Neurological Paraneoplastic cerebellar degeneration Encephalomyelitis Limbic encephalitis Opsoclonus Polymyositis Transverse myelitis Lambert–Eaton myasthenic syndrome Anti-NMDA receptor encephalitis Musculoskeletal Dermatomyositis Hypertrophic osteopathy Mucocutaneous reactive erythema Erythema gyratum repens Necrolytic migratory erythema papulosquamous Acanthosis nigricans Ichthyosis acquisita Acrokeratosis paraneoplastica of Bazex Extramammary Paget's disease Florid cutaneous papillomatosis Leser-Trélat sign Pityriasis rotunda Tripe palms Other Febrile neutrophilic dermatosis Pyoderma gangrenosum Paraneoplastic pemphigus
  • Hypotransferrinemia Wikipedia
    Retrieved 20 February 2017 . ^ Nemeth E, Ganz T (2006). "Regulation of iron metabolism by hepcidin". ... Springer Science & Business Media. v t e Metal deficiency and toxicity disorders Iron excess: Iron overload Hemochromatosis Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis deficiency: Iron deficiency Copper excess: Copper toxicity Wilson's disease deficiency: Copper deficiency Menkes disease / Occipital horn syndrome Zinc excess: Zinc toxicity deficiency: Acrodermatitis enteropathica Other Inborn errors of metabolism
  • Diastrophic Dysplasia Wikipedia
    National Library of Medicine External links [ edit ] Classification D ICD - 10 : Q77.5 OMIM : 222600 MeSH : C536170 C536170, C536170 DiseasesDB : 30759 External resources eMedicine : orthoped/632 Orphanet : 628 GeneReviews/NCBI/NIH/UW entry on Diastrophic Dysplasia v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis v t e Genetic disorder , membrane: Solute carrier disorders 1-10 SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4 / Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria 11-20 SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25 21-40 SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload see also solute carrier family
    SLC26A2
  • Dementia With Lewy Bodies MedlinePlus
    The APOE gene provides instructions for making a protein, called apolipoprotein E, which packages cholesterol and other fats and carries them through the bloodstream. ... It is thought that the apolipoprotein E produced from the e4 allele of the APOE gene may disrupt the transport of alpha-synuclein into and out of cells, leading to its accumulation.
    • Dementia, Lewy Body OMIM
      Her 2 sons developed similar parkinsonism at the ages of 39 and 28 years and also suffered later-onset dementia. The apolipoprotein E genotype of the proband, her uncle, and 1 of their sons was E3/4 and that of the other son was E4/4.
  • Hypokalemic Sensory Overstimulation Wikipedia
    PMID 18426576 . Medicine portal v t e Nervous system Central nervous system Meninges Spinal cord Brain Hindbrain Medulla Pons Cerebellum Midbrain Forebrain Diencephalon Retina Optic nerve Cerebrum Limbic system Peripheral nervous system Somatic Sensory nerve Motor nerve Cranial nerve Spinal nerve Autonomic Sympathetic Parasympathetic Enteric v t e Anesthesia and anesthesiology Types General Sedation Twilight anesthesia Local Topical Intercostal nerve block Neuraxial blockade Spinal Epidural Dental Inferior alveolar nerve Techniques Airway management Anesthesia provision in the US Arterial catheter Bronchoscopy Capnography Dogliotti's principle Drug-induced amnesia Intraoperative neurophysiological monitoring Nerve block Penthrox inhaler Tracheal intubation Scientific principles Blood–gas partition coefficient Concentration effect Fink effect Minimum alveolar concentration Second gas effect Measurements ASA physical status classification system Baricity Bispectral index Entropy monitoring Fick principle Goldman index Guedel's classification Mallampati score Neuromuscular monitoring Thyromental distance Instruments Anaesthetic machine Anesthesia cart Boyle's machine Gas cylinder Laryngeal mask airway Laryngeal tube Medical monitor Odom's indicator Relative analgesia machine Vaporiser Double-lumen endotracheal tube Endobronchial blocker Complications Emergence delirium Allergic reactions Anesthesia awareness Local anesthetic toxicity Malignant hyperthermia Perioperative mortality Postanesthetic shivering Postoperative nausea and vomiting Postoperative residual curarization Subspecialties Cardiothoracic Critical emergency medicine Geriatric Intensive care medicine Obstetric Oral sedation dentistry Pain medicine Professions Anesthesiologist Anesthesiologist assistant Nurse anesthetist Operating department practitioners Certified Anesthesia Technician Certified Anesthesia Technologist Anaesthetic technician Physicians' assistant (anaesthesia) History ACE mixture Helsinki Declaration for Patient Safety in Anaesthesiology History of general anesthesia History of neuraxial anesthesia History of tracheal intubation Organizations American Association of Nurse Anesthetists American Society of Anesthesia Technologists & Technicians American Society of Anesthesiologists Anaesthesia Trauma and Critical Care Association of Anaesthetists of Great Britain and Ireland Royal College of Anaesthetists Association of Veterinary Anaesthetists Australian and New Zealand College of Anaesthetists Australian Society of Anaesthetists International Anesthesia Research Society Category Outline
  • Alcohol Intolerance Wikipedia
    . ^ Potential risks to human health and the environment from the use of calcium cyanamide as fertiliser , page 29, Scientific Committee on Health and Environmental Risks , Retrieved 14 November 2016 v t e Alcohol and health Alcohol use Alcohol-related crimes Drunk drivers Alcohol-related traffic crashes in the United States Driving under the influence (DUI) Drunk driving in the United States Public intoxication Rum-running Adulterated moonshine / Denatured alcohol List of methanol poisoning incidents Alcoholism Alcohol and Native Americans Alcoholism in adolescence Alcoholism in family systems Collaborative Study on the Genetics of Alcoholism College student alcoholism Disease theory of alcoholism High-functioning alcoholic (HFA) Seeing pink elephants Chemistry Beer chemistry Congener Alcohol congener analysis Ethanol Blood alcohol content Breathalyzer Fusel alcohol Wine chemistry Effects Short-term effects of alcohol consumption Long-term effects of alcohol On memory Subjective response to alcohol Interactions Aging Brain Cancer breast cancer Cortisol Pregnancy Sleep Tolerance / intolerance Weight Beverage-specific Beer: Potomania Red wine: Red wine headache Social issues Alcohol advertising on college campuses Sex Alcohol myopia Alcohol abuse among college students Binge drinking Epidemiology Blackout (alcohol-related amnesia) Blackout Wednesday Drinking game list pregaming Drinking in public Drunk dialing Drunk walking Drunkorexia Dry drunk French paradox Hair of the dog Nightcap Pantsdrunk Passive drinking Binge drinking devices Beer bong Yard of ale Routes of administration Alcohol enema Alcohol inhalation Sconcing Surrogate alcohol Related issues Balconing Suicide History Dionysian Mysteries Dipsomania Gin Craze List of deaths through alcohol Rum ration Speakeasy General Beer day Drinking culture Apéritif and digestif Hangover remedies Health effects of wine Wine and food matching Long-distance race involving alcohol List of countries by alcohol consumption per capita Alcohol consumption by youth in the United States Nip joint Alcohol control Alcohol law Administrative license suspension (ALS) Alcohol packaging warning messages Drunk driving law by country DWI court Field sobriety testing Hip flask defence Ignition interlock device Legal drinking age Age controversy in US Underage drinking in US List of alcohol laws of US Alcohol prohibition List of countries with alcohol prohibition Neo-prohibitionism Temperance movement Sobriety Alcohol detoxification Alcohol-free zone Dry campus United States open-container laws Designated driver Alcohol rehabilitation Drunk tank Managed alcohol program Non-alcoholic drink List of cocktails List of mixed drinks Spritzer Malt drinks Teetotalism Temperance bar Twelve-step groups Al-Anon/Alateen Alcoholics Anonymous (AA): Adult Children of Alcoholics (ACA) Alcohol limitation 0-0-1-3 Alcohol education Alcohol server training FRAMES Dry January Foundation for Advancing Alcohol Responsibility Campaigns Get Your Sexy Back Liquor license Low-alcohol drinks Fermented tea Low-alcohol beer Low-alcoholic malt drinks Small beer Measurement Alcoholic spirits measure Standard drink Recommended maximum intake of alcoholic beverages Addiction medicine Disulfiram-like drugs : disulfiram , calcium carbimide , cyanamide . ... You can help Wikipedia by expanding it . v t e
    ALDH2
    • Acute Alcohol Sensitivity GARD
      Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently. It is most common in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism that doesn't allow aldehyde dehydrogenase (ALDH) to metabolize acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol.
    • Alcohol Sensitivity, Acute OMIM
      A number sign (#) is used with this entry because acute alcohol sensitivity can be caused by mutation in the ALDH2 gene (100650). Clinical Features Wolff (1972) demonstrated that East Asians, after drinking amounts of alcohol that have no detectable effect on Caucasians, respond with marked facial flushing and mild to moderate symptoms of intoxication. Wolff (1972) believed that group differences were attributable to differences in autonomic reactivity. Stamatoyannopoulos et al. (1975) suggested that the racial difference in alcohol intoxication is due to rapid acetaldehyde formation as a result of the highly active atypical alcohol dehydrogenase isozyme found in high frequency in East Asians. Goedde et al. (1979) proposed that the high frequency of acute alcoholic intoxication in East Asians is related to the high frequency of persons with absence of ALDH2 liver isozyme.
  • Dissociated Sensory Loss Wikipedia
    . ^ Peres Serra, J; Martínez Yélamos, S; Ballabriga Planas, J; Basart Tarrats, E; Arbizu Urdiain, T (1994). "[Dissociated sensory loss syndrome in multiple sclerosis] (translated)". ... Neurological surgery . 12 (10): 1219–23. PMID 6504260 . v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
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