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  • Migrainous Infarction Wikipedia
    CS1 maint: DOI inactive as of January 2021 ( link ) ^ a b c d e Viana, M.; Linde, M.; Sances, G.; Ghiotto, N.; Guaschino, E.; Allena, M.; Terrazzino, S.; Nappi, G.; Goadsby, P. ... S2CID 6290227 . ^ Ameri, A.; Bousser, M. G. (1992-02-01). "Cerebral Venous Thrombosis" . ... PMC 1739108 . PMID 15201354 . ^ a b c D'Andrea, G.; Toldo, M.; Cananzi, A.; Ferro-Milone, F. (1984-03-01). ... ISSN 0006-8950 . PMID 8453456 . ^ Kreling, G. A. D.; de Almeida, N. R.; dos Santos, P. ... PMID 28740841 . ^ Lee, H.; Whitman, G. T.; Lim, J. G.; Yi, S. D.; Cho, Y.
  • Malabsorption Wikipedia
    A typical Western diet ingested by an adult in one day includes approximately 100 g of fat, 400 g of carbohydrate, 100 g of protein, 2 L of fluid, and the required sodium , potassium , chloride , calcium , vitamins , and other elements. [ citation needed ] Salivary , gastric , intestinal , hepatic , and pancreatic secretions add an additional 7–8 L of protein-, lipid-, and electrolyte-containing fluid to intestinal contents. This massive load is reduced by the small and large intestines to less than 200 g of stool that contains less than 8 g of fat, 1–2 g of nitrogen, and less than 20 mmol each of Na + , K + , Cl – , HCO 3 – , Ca 2+ , or Mg 2+ . ... PMID 12192177 . S2CID 10373517 . ^ Gasbarrini G, Frisono M: Critical evaluation of malabsorption tests; in Dobrilla G, Bertaccini G (1986). Langman G (ed.). Problems and Controversies in Gastroenterology . ... PMID 7350049 . ^ a b c Thomas P, Forbes A, Green J, Howdle P, Long R, Playford R, Sheridan M, Stevens R, Valori R, Walters J, Addison G, Hill P, Brydon G (2003). "Guidelines for the investigation of chronic diarrhoea, 2nd edition" .
    SLC46A1, CFTR, CBLIF, SI, MTTP, NEUROG3, ARX, SLC5A1, PCSK1, SLC6A19, RFX6, PEX14, PEX6, TCF3, PEX10, TERC, TERT, TGFB1, TGFBR2, TLR4, KDM6A, CLIP2, STAT4, WFS1, XRCC4, KMT2D, KLRC4, PEX3, RFXANK, PEX11B, BAZ1B, STX1A, AKR1D1, SRP54, RFC2, PIK3CA, PEX13, PIK3R1, PMS1, PMS2, POLG, PEX19, PEX5, RFX5, ABCB4, RFXAP, RMRP, RPS20, SAA1, PEX12, PEX16, SLC2A2, SLCO2A1, RECQL4, AGA, ADAMTS3, USB1, SLC39A4, NHP2, PEX26, LRRC8A, TRMT5, SEMA4A, CYBC1, EFL1, FAT4, CTC1, GTF2IRD1, HSD3B7, CDCA7, DNAJC21, CCBE1, IL23R, UBR1, UBAC2, CISD2, NCF1, NOP10, SLC29A3, WRAP53, NSUN2, LPIN2, PEX1, HYOU1, SRCAP, SPINK5, CLCA4, FAN1, PMPCA, VPS13A, TINF2, TBL2, MLH3, BLNK, SH3KBP1, FOXP3, SBDS, DCTN4, RTEL1, ERAP1, ZBTB24, PEX2, ENPP1, DNMT3B, ELN, ERCC2, F5, FLNA, GLA, MSH6, GTF2I, HBB, HELLS, HLA-B, HLA-DRB1, PARN, IGHM, IGLL1, IL10, IL12A, IRF5, JAK2, KRAS, TYMP, DMP1, LIMK1, DKC1, AK2, APC, FAS, ATP7A, B2M, BMPR1A, BTK, C4A, CAV1, CD79A, CD79B, CCR1, CCR6, CCN2, CTNNB1, CYBA, CYBB, CYP27A1, CD55, LIG4, HPGD, IL12A-AS1, TRNW, COX1, COX2, COX3, ND1, MYD88, ND5, ND6, TRNE, MPI, TRNS2, TRNF, TRNH, TRNK, TRNL1, TRNQ, TRNS1, MSH2, ND4, MLH1, MEFV, NCF4, OCRL, EPCAM, NCF2, CIITA, CUBN, SLC2A5, APOB, SAR1B, TNF, TGM2, ACE, AGT, ACAD8, AMN, PTH, GCG, MMUT, PAEP, MYO5B, HT, ATP4A, MYLK, TPH2, PLF, PYY, HAMP, NLRP3, ATP12A, COX4I2, PNLIP, OR10A4, CD40, PANK2, REXO1L1P, CD36, ATP8B1, CCK, TPH1, CLDN4, PDP1, UCP2, EZR, LEP, LCT, TH, KIT, KDR, DGAT1, RAB11A, NRP1, CLDN2, MT1B, NCOA2, SLC10A2, MGLL, GSR, GH1, PTPN22, CNNM4, FGR, FAT1, FABP1, MTR, EXOSC3, TTR, S100A10, RNPEP, MLXIPL
  • Benign Familial Neonatal Seizures Wikipedia
    S2CID 37406352 . ^ Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A (2000). ... PMID 11175290 . ^ a b Castaldo P, del Giudice E, Coppola G, Pascotto A, Annunziato L, Taglialatela M (2002). ... Neurology . 63 (1): 57–65. doi : 10.1212/01.wnl.0000132979.08394.6d . PMID 15249611 . ^ de Haan G, Pinto D, Carton D, Bader A, Witte J, Peters E, van Erp G, Vandereyken W, Boezeman E, Wapenaar M, Boon P, Halley D, Koeleman B, Lindhout D (2006). ... PMID 15178210 . S2CID 36912785 . ^ a b Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri M, Anzalone L, Sferro C, Annunziato L, Pascotto A, Taglialatela M (2003). ... PMID 10852552 . ^ Concolino D, Iembo M, Rossi E, Giglio S, Coppola G, Miraglia Del Giudice E, Strisciuglio P (2002).
    SCN2A, KCNQ2, KCNQ3, PRRT2, ATP1A2, SCN8A, BFIS1, CHRNA4, LGI4, MC3R, SCN1B, GALE, EEGV1, CSTB, WASF2, CHRNA7, EFHC1, SLC5A11, SCN1A
    • Seizures, Benign Familial Infantile, 2 OMIM
      A number sign (#) is used with this entry because benign familial infantile seizures-2 (BFIS2) is caused by heterozygous mutation in the PRRT2 gene (614386) on chromosome 16p11. Description Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; 602066) and paroxysmal kinesigenic choreoathetosis (EKD1; 128200).
    • Seizures, Benign Familial Infantile, 1 OMIM
      Description Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
    • Seizures, Benign Familial Neonatal, Autosomal Recessive OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 (121200). Clinical Features Schiffmann et al. (1991) described an Iranian Jewish kindred in which 4 children of the same generation in 2 separate sibships with complex parental consanguinity had neonatal seizures. Linkage analysis excluded assignment to the BFNS1 locus on chromosome 20q. Inheritance The transmission pattern of benign neonatal seizures in the family reported by Schiffmann et al. (1991) suggested autosomal recessive inheritance. INHERITANCE - Autosomal recessive NEUROLOGIC Central Nervous System - Seizures, generalized tonic-clonic - Hypertonia in neonatal period - Normal interictal EEG - Normal psychomotor development - Patients may develop a seizure disorder later in life MISCELLANEOUS - Onset at 6-36 hours of life - Seizures resolve by 4 months of age - See EBN1 ( 121200 ) for an autosomal dominant form ▲ Close
    • Seizures, Benign Familial Neonatal, 1 OMIM
      A number sign (#) is used with this entry because of evidence that benign familial neonatal seizures-1 (BFNS1) is caused by heterozygous mutation in the KCNQ2 gene (602235) on chromosome 20q13. Some patients with KCNQ2 mutations develop severe early infantile epileptic encephalopathy (EIEE7; 613720). Description Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset. Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
    • Seizures, Benign Familial Neonatal, 2 OMIM
      A number sign (#) is used with this entry because benign familial neonatal seizures-2 (BFNS2) is caused by heterozygous mutation in the KCNQ3 gene (602232) on chromosome 8q24. Description Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013).
    • Benign Familial Neonatal-Infantile Seizures Orphanet
      Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2.
    • Seizures, Benign Familial Neonatal, 3 OMIM
      For a phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200). Clinical Features Concolino et al. (2002) reported a family in which 3 members over 3 generations had benign neonatal seizures inherited in an autosomal dominant pattern. Cytogenetics By cytogenic analysis in a family with benign neonatal seizures, Concolino et al. (2002) identified a pericentric inversion of chromosome 5, inv(5)(p15q11), which was present in all 3 affected members and absent in 3 unaffected first-degree relatives. The authors noted that the breakpoint was different from that found in cri-du-chat syndrome (123450). INHERITANCE - Autosomal dominant NEUROLOGIC Central Nervous System - Seizures, generalized tonic-clonic MISCELLANEOUS - Onset in first months of life - Seizures usually remit spontaneously by 12 months of age - No neurologic sequelae ▲ Close
    • Seizures, Benign Familial Infantile, 4 OMIM
      For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). Clinical Features Li et al. (2008) reported a 4-generation Chinese family in which 8 individuals had benign infantile seizures. Age at seizure onset ranged from 3 to 10 months of life. The proband developed afebrile seizures at age 6 months, characterized by staring, eye deviation, focal clonus of the face, followed by secondarily generalized phase with hypertonia, extremities clonus, cyanosis, and urinary incontinence. The seizures lasted from 30 seconds to 2 minutes and occurred mainly in clusters with 3 to 10 episodes per day. Interictal EEG, brain CT, and MRI were classified as normal. Treatment with sodium valproate was effective, and the proband's seizures spontaneously remitted by 3 years of age.
    • Benign Familial Infantile Epilepsy Orphanet
      Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Epidemiology Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown. In an Argentinian case series, BFIE have been listed as the third most common type of epilepsy in the first two years of life. Clinical description Seizures usually occur between 3 to 8 months of life, with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. Patients present with motor arrest, unresponsiveness, head and/or eye deviation to one side, staring, fluttering of eyelids, grunting, cyanosis, diffuse hypertonia and unilateral or bilateral clonic jerks of the limbs.
    • Seizures, Benign Familial Infantile, 5 OMIM
      A number sign (#) is used with this entry because of evidence that benign familial infantile seizures-5 (BFIS5) is caused by heterozygous mutation in the SCN8A gene (600702) on chromosome 12q13. Heterozygous mutation in the SCN8A gene can also cause the more severe disorder EIEE13 (614558). Description Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development.
    • Benign Familial Neonatal Epilepsy Orphanet
      Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. Epidemiology Prevalence is currently unknown since this disorder is possibly overlooked. About 100 families have been reported to date. Clinical description Seizure onset is usually between the second and the eighth day of life, in otherwise healthy newborns. Seizures are mostly focal involving alternatively both sides of the body and apnea is frequently associated. Seizures can be isolated or in clusters, are generally brief and last 1-2 minutes.
    • Seizures, Benign Familial Infantile, 3 OMIM
      A number sign (#) is used with this entry because benign familial neonatal-infantile seizures-3 (BFIS3) is caused by heterozygous mutation in the SCN2A gene (182390) on chromosome 2q24. See also early infantile epileptic encephalopathy-11 (EIEE11; 613721), a more severe disorder that also results from mutations in the SCN2A gene. Description Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, 121200) has a slightly earlier onset.
  • Systemic Lupus Erythematosus, Susceptibility To, 12 OMIM
    Homozygotes for the A allele of rs13277113 had levels of BLK mRNA expression that were approximately 50% of those of homozygotes for the G allele. The expression of the C8ORF13 gene also correlated with the rs13277113 SNP, but in the opposite direction. The A allele was associated with higher expression of C8ORF13, whereas the G allele was significantly associated with lower expression. A/G heterozygotes had intermediate levels of expression of both genes.
  • Blue Cone Monochromacy Wikipedia
    PMID 20220053 . ^ a b c d e Alpern, M; Falls, H F; Lee, G B (1960). "The enigma of typical total monochromacy". ... PMC 2676201 . PMID 19421413 . ^ a b c d e f g Michaelides, M; Johnson, S; Simunovic, M P; Bradshaw, K; Holder, G; Mollon, J D; Moore, A T; Hunt, D M (2005). ... Ophthalmol . 242 (9): 729–735. doi : 10.1007/s00417-004-0921-z . PMID 15069569 . ^ a b c d e f g h i Nathans, J; Davenport, C M; Maumenee, I H; Lewis, R A; Hejtmancik, J F; Litt, M; Lovrien, E; Weleber, R; Bachynski, B; Zwas, F; Klingaman, R; Fishman, G (1989). ... PMID 21267011 . ^ a b c Gardner, J C; Webb, T R; Kanuga, N; Robson, A G; Holder, G E; Stockman, A; Ripamonti, C; Ebenezer, N D; Ogun, O; Devery, S; Wright, G A; Maher, E R; Cheetham, M E; Moore, A T; Michaelides, M; Hardcastle, A J (2010). ... PMID 8666378 . ^ a b c d Gardner, J C; Liew, G; Quan, Y H; Ermetal, B; Ueyama, H; Davidson, A E; Schwarz, N; Kanuga, N; Chana, R; Maher, E; Webster, A R; Holder, G E; Robson, A G; Cheetham, M E; Liebelt, J; Ruddle, J B; Moore, A T; Michaelides, M; Hardcastle, A J (2014).
    OPN1MW, OPN1LW
  • Large For Gestational Age Wikipedia
    These generally involve trying to turn the shoulders into the oblique, using suprapubic pressure to disimpact the anterior shoulder from above the pubic symphysis, or delivering the posterior arm first. [8] If these do not resolve the situation, the provider may intentionally snap the baby's clavicle (bone that holds shoulder in place) in a procedure called cleidotomy in order to displace the shoulder and allow the child to be delivered. [9] [10] Other methods to deliver the baby as a last resort when all else have failed are the Zavanelli maneuver and symphysiotomy. [9] [10] The Zavanelli maneuver involves flexing and pushing the fetal head back into the birth canal, and an emergency cesarean section is then performed. [10] Symphysiotomy allows childbirth by surgically dividing the pubic bone to widen the pelvis and it is performed after a failed Zavanelli maneuver. [10] Newborns with shoulder dystocia are at risk of temporary or permanent nerve damage to the baby's arm, or other injuries such as humeral fracture. [8] In non-diabetic women, shoulder dystocia happens 0.65% of the time in babies that weigh less than 8 pounds 13 ounces (4,000 g), 6.7% of the time in babies that weigh 8 pounds 13 ounces (4,000 g) to 9 pounds 15 ounces (4,500 g), and 14.5% of the time in babies that weigh more than 9 pounds 15 ounces (4,500 g). [11] In diabetic women, shoulder dystocia happens 2.2% of the time in babies that weigh less than 8 pounds 13 ounces (4,000 g), 13.9% of the time in babies that weigh 8 pounds 13 ounces (4,000 g) to 9 pounds 15 ounces (4,500 g), and 52.5% of the time in babies that weigh more than 9 pounds 15 ounces (4,500 g). [11] Although big babies are at higher risk for shoulder dystocia, most cases of shoulder dystocia happen in smaller babies because there are many more small and normal-size babies being born than big babies. [12] Researchers have been unable to predict who will have shoulder dystocia and who will not. [13] LGA babies are at higher risk of hypoglycemia in the neonatal period, independent of whether the mother has diabetes. [14] Hypoglycemia, as well as hyperbilirubinemia and polycythemia, occur as a result of hyperinsulinemia in the fetus. [15] High birth weight may impact the baby in the long term. Macrosomic neonates are at a higher risk of being overweight and obese than their normal-weight counterparts later in life. [4] [16] Studies have shown that the long-term overweight risk is doubled when the birth weight is greater than 4,000 g. [17] The risk of having type 2 diabetes mellitus in adult life is 19% higher among macrosomic babies with birth weights heavier than 4,500 g compared to those with birth weights between 4,000 g and 4,500 g. [18] Maternal [ edit ] Maternal complications in pregnancies with macrosomia include emergency cesarean section, postpartum hemorrhage and obstetric anal sphincter injury. [19] The risk of maternal complications in pregnancies with newborns weighing between 4,000 g and 4,500 g is two-fold greater than in pregnancies without macrosomia. ... The Journal of Pediatrics . 140 (2): 200–4. doi : 10.1067/mpd.2002.121696 . PMID 11865271 . ^ a b c d e f g h Boulvain M, Irion O, Dowswell T, Thornton JG, et al. ... PMID 30486715 . ^ a b Beta J, Khan N, Khalil A, Fiolna M, Ramadan G, Akolekar R (September 2019). "Maternal and neonatal complications of fetal macrosomia: systematic review and meta-analysis" . ... PMID 19609940 . ^ Boubred F, Pauly V, Romain F, Fond G, Boyer L (2020-06-05). Farrar D (ed.).
    HNF4A, LIPC
    • Fetal Macrosomia Mayo Clinic
      Overview The term "fetal macrosomia" is used to describe a newborn who's much larger than average. A baby who is diagnosed as having fetal macrosomia weighs more than 8 pounds, 13 ounces (4,000 grams), regardless of his or her gestational age. About 9% of babies worldwide weigh more than 8 pounds, 13 ounces. Risks associated with fetal macrosomia increase greatly when birth weight is more than 9 pounds, 15 ounces (4,500 grams). Fetal macrosomia may complicate vaginal delivery and can put the baby at risk of injury during birth. Fetal macrosomia also puts the baby at increased risk of health problems after birth.
  • Glutaric Acidemia Type 2 Wikipedia
    Retrieved 30 August 2018 . ^ a b c d e f g "Glutaric acidemia type II" . Genetic and Rare Diseases Information Center (GARD) . ... National Library of Medicine External links [ edit ] Classification D ICD - 10 : E72.3 ICD - 9-CM : 277.85 OMIM : 231680 MeSH : D054069 DiseasesDB : 29816 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 v t e Inborn error of lipid metabolism : fatty-acid metabolism disorders Synthesis Biotinidase deficiency (BTD) Degradation Acyl transport Carnitine CPT1 CPT2 CDSP CACTD Adrenoleukodystrophy (ALD) Beta oxidation General Acyl CoA dehydrogenase Short-chain SCADD Medium-chain MCADD Long-chain 3-hydroxy LCHAD Very long-chain VLCADD Mitochondrial trifunctional protein deficiency (MTPD): Acute fatty liver of pregnancy Unsaturated 2,4 Dienoyl-CoA reductase deficiency (DECRD) Odd chain Propionic acidemia (PCC deficiency) Other 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADHD) Glutaric acidemia type 2 (MADD) To acetyl-CoA Malonic aciduria (MCD) Aldehyde Sjögren–Larsson syndrome (SLS)
    ETFB
  • Hyperammonemia Wikipedia
    .; Capocaccia, L.; Caschera, M.; Zullo, A.; Pinto, G.; Gaudio, E.; Franchitto, A.; Spagnoli, R.; D'Aquilino, E. ... External links [ edit ] Classification D ICD - 10 : E72.2 ICD - 9-CM : 270.6 MeSH : D022124 DiseasesDB : 20468 External resources eMedicine : neuro/162 ped/1057 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
    NAGS, CPS1, OTC, GLUD1, ASS1, TLR5, TYMS, GOT2, PRKCQ, GLUL, ARG1, ASL, SLC25A15, SLC25A13, HMGCL, HADH, MMUT, NR1H4, TMEM70, CA5A, ATP5F1D, ACAD9, NDUFA6, MMAA, HLCS, TANGO2, IVD, ATPAF2, SERAC1, ACADM, PCCA, MCCC2, NBAS, PCCB, MCCC1, SLC22A5, TUFM, UQCRC2, SLC7A7, HADHA, HADHB, ACADL, MMAB, ACADVL, ACAT1, BTD, SLC25A20, CAD, CPT1A, CPT2, CYC1, DLD, GCK, MSTN, TFEB, CTNNB1, TNF, GRIA2, GRIA1, HNF4A, OAT, PC, IL1B, CRK, INSR, AHSA1, RNF19A, POLDIP2, CAT, ATP6V0A4, MED18, MAPK14, IL1A, TWNK, BDNF, ARG2, AMT, ALB, GSK3B, GRAP2, AIMP2, GCSH, SLC6A6, OGDH, PCNA, ABCB1, POLG, GABPA, MAPK1, ROS1, CCL4, SLC9A1, GLS, ABCC8, CYP2C9, GSR, TNFRSF1A, TNFRSF1B, CYP2A6, NFE2L2, GFAP, HSD17B10
  • Diabetes And Deafness, Maternally Inherited OMIM
    The most common mutation is a 3243A-G transition in the MTTL1 gene (590050.0001). ... Velho et al. (1996) reported 5 French pedigrees with the common 3243A-G mutation associated with variable clinical features, ranging from normal glucose tolerance to insulin-requiring diabetes. ... Reardon et al. (1992) identified the 3243A-G mutation in the MTTL1 gene in a family with MIDD. ... Since the level of mutated mtDNA in hair follicles was most similar to the level in muscle, the authors suggested that hair follicles may be the best tissue for noninvasive quantitation of the 3243A-G mutation. Sue et al. (1993) and Schulz et al. (1993) identified the 3243A-G mutation in affected individuals. ... Mutation in the MTTK Gene Kameoka et al. (1998) identified an 8396A-G mutation in the MTTK gene (590060.0005) in patients with maternally inherited diabetes and deafness.
    TRNL1, TRNE, TRNK, GCG, HNF4A, IGHA1, INS, COX1, COX2, COX3, ND5, SCT, RAPGEF5, IGAN1, MTCO2P12
    • Diabetes And Deafness Wikipedia
      Of these people with diabetes carrying the mitochondrial DNA mutation at position 3243, 75% experience sensorineural hearing loss . [1] In these cases, hearing loss normally appears before the onset of diabetes and is marked by a decrease in perception of high tone frequencies. [3] The associated hearing loss with diabetes is typically more common and more quickly declining in men than in women. [4] Effect of mutation on tRNALeu(UUR) [ edit ] Mitochondria have their own circular genome which contains 37 genes , of which 22 code for tRNAs . [5] These tRNAs play an essential role in protein synthesis by transporting amino acids to the ribosome . [1] MIDD is caused by an A to G substitution in the mitochondrial DNA at position 3243, which encodes tRNALeu(UUR). [1] This mutation is typically in heteroplasmic form. ... Without sufficient levels of ATP , these concentration gradients are not maintained and this can lead to cell death in both the stria vascularis and the hair cells , causing hearing loss. [9] Table 1: Metabolically active organs that can be affected by the 3243A>G mitochondrial point mutation and the associated complication: [1] Organ affected Associated complication Ear ( cochlea ) Sensorineural hearing loss Brain ( Hypothalamus ) Short stature Eye Macular pattern dystrophy Heart Congestive heart failure Kidney Focal segmental glomerulosclerosis Intestine Malabsorption or constipation Brain Strokes, atrophy of cerebellum or cerebrum Muscle Myopathy Diagnosis [ edit ] This section is empty. ... This does not last long before the person has to be started on insulin (within 2 years of diagnosis). [10] See also [ edit ] Deafness Diabetes References [ edit ] ^ a b c d e f g h i j Murphy R, Turnbull DM, Walker M, Hattersley AT "Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. " Diabet. ... "Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function" Diabetologia . 2006 Aug;49(8):1816-26. PMID 16736129 ^ a b c d e f g h Maassen JA, Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH. ... Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.
    • Maternally-Inherited Diabetes And Deafness Orphanet
      Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. Epidemiology The prevalence is unknown, but MIDD accounts for 0.2-3% of all cases of diabetes. Clinical description The first manifestations may occur at any age, but the disease is usually diagnosed in early adulthood. In most cases, the onset of deafness precedes that of diabetes. The severity of the hearing loss is variable but it is sensorineural, bilateral and progressive, and is more profound at higher frequencies. In most cases, patients present pseudo-type 2 diabetes, with a normal or low body mass index.
    • Maternally Inherited Diabetes And Deafness MedlinePlus
      Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina ). This disorder does not usually cause vision problems in people with MIDD.
    • Maternally Inherited Diabetes And Deafness GARD
      Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1 , MT-TK , or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance.
  • Retrocolic Hernia Wikipedia
    It has been observed to occur as a complication of a left hemicolectomy . [1] References [ edit ] ^ Angelone, G; Giardiello, C; Francica, G (October 2005).
  • Fibrinogenolysis Wikipedia
    "Consumptive thrombohemorrhagic disorders". Hematology . ^ Potron G, Caen JP, Tobelem G, Soria C, eds. (1988).
    PLAU
  • Erythrocyanosis Crurum Wikipedia
    See also [ edit ] Chilblains List of cutaneous conditions References [ edit ] Otto Braun-Falco; G. Plewig; H. H. Wolff; Walter H. C. ... James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology .
  • Childhood Granulomatous Periorificial Dermatitis Wikipedia
    After CGPD resolves, the skin may return to normal without scarring or may have small atrophic depressions with collagen loss , milia , or small pit-like scars. [1] Epidemiology [ edit ] CGPD occurs most often in children of Afro-Caribbean descent before puberty though reports of this disease occurring in Asian and Caucasian children have also been described. [1] [3] Due to the limited number of reported cases, it remains controversial whether CGPD occurs more often in African children than in children of other races. [2] CGPD is more common in boys than girls. [3] History [ edit ] Gianotti et al. first described CGPD in five Italian children in 1970. [3] In 1990, Williams et al. described a similar skin eruption in five children of Afro-Caribbean descent and coined the proposed term "facial Afro-Caribbean childhood eruption (FACE)". [3] Subsequently, another article by Katz and Lesher first introduced the term CGPD since some reported cases were not found in children of Afro-Caribbean descent and to avoid confusion with perioral dermatitis. [3] See also [ edit ] Perioral dermatitis References [ edit ] ^ a b c d e f g h i j k l m Dessinioti, C; Antoniou, C; Katsambas, A (January–February 2014). ... Clinics in Dermatology (Review). 32 (1): 24–34. doi : 10.1016/j.clindermatol.2013.05.023 . PMID 24314375 . ^ a b c d e f g h i j Zalaudek, I; Di Stefani, A; Ferrara, G; Argenziano, G (April 2005). ... PMID 16370472 . S2CID 9802651 . ^ a b c d e f g h i Kim, YJ; Shin, JW; Lee, JS; Park, YL; Whang, KU; Lee, SY (August 2011).
  • Musk, Inability To Smell OMIM
    The guanine nucleotide-binding proteins (G or N proteins) are ubiquitous features of signal transduction mechanisms involving control of intracellular calcium and second messengers, regulation of cell growth, gating of ion channels, olfaction, vision, and possibly other sensory systems. Possibly because of their key role in signal transduction, G proteins have been singled out as targets by toxins from several types of bacteria, e.g., those causing diphtheria, cholera, and pertussis. These toxins have proved valuable in identifying the function of the different G proteins (Dolphin, 1987). It is possible that specific anosmia or 'smell blindness' in the olfactory system is analogous to colorblindness in vision, where unequal crossing over between the highly homologous receptors within a cluster during gametogenesis results in the formation of new hybrid receptors and/or the deletion of receptor genes (Reed, 1996).
  • Acquired Idiopathic Generalized Anhidrosis Wikipedia
    However, these refined methods are mostly used for research purposes and not generally available. [5] Skin biopsy analysis may play a crucial role in the identification of AIGA subgroups. [1] See also [ edit ] Hypohidrosis References [ edit ] ^ a b Chen, Y. C.; Wu, C. S.; Chen, G. S.; Khor, G. T.; Chen, C. H.; Huang, P. (2008). ... PMID 15505168 . ^ Donadio, V.; Montagna, P.; Nolano, M.; Cortelli, P.; Misciali, C.; Pierangeli, G.; Provitera, V.; Casano, A.; Baruzzi, A.; Liguori, R. (2005).
  • Abdominal Compartment Syndrome Wikipedia
    J.; De laet, I.; Malbrain, M. L. N. G. (12 October 2015). "Understanding abdominal compartment syndrome". ... PMID 23673399 . ^ Malbrain, Manu L. N. G.; Cheatham, Michael L.; Kirkpatrick, Andrew; Sugrue, Michael; Parr, Michael; De Waele, Jan; Balogh, Zsolt; Leppäniemi, Ari; Olvera, Claudia (2006-11-01). ... PMID 19186280 . ^ van Brunschot, Sandra; Schut, Anne Julia; Bouwense, Stefan A.; Besselink, Marc G.; Bakker, Olaf J.; van Goor, Harry; Hofker, Sijbrand; Gooszen, Hein G.; Boermeester, Marja A.; van Santvoort, Hjalmar C. (2014). ... J.; De laet, I.; Malbrain, M. L. N. G. (12 October 2015). "Understanding abdominal compartment syndrome". ... S2CID 9692082 . ^ Patel, Aashish; Lall, Chandana G.; Jennings, S. Gregory; Sandrasegaran, Kumaresan (November 2007).
    CXCL8, NEO1
  • Olive Quick Decline Syndrome Wikipedia
    . ^ Saponari, M.; Boscia, D.; Altamura, G.; Loconsole, G.; Zicca, S.; D’Attoma, G.; Morelli, M.; Palmisano, F.; Saponari, A.; Tavano, D.; Savino, V. ... PMC 5735170 . PMID 29255232 . ^ Martelli, G. P.; Boscia, D.; Porcelli, F.; Saponari, M. (1 February 2016).
  • Aggressive Angiomyxoma Wikipedia
    . ^ Mathieson A, Chandrakanth S, Yousef G, Wadden P (June 2007). "Aggressive angiomyxoma of the pelvis: a case report" (PDF) . ... PMID 18295664 . ^ Medeiros, F; Erickson-Johnson, M. R.; Keeney, G. L.; Clayton, A. C.; Nascimento, A. G.; Wang, X; Oliveira, A. M. (2007). ... R.; Weremowicz, S; Neskey, D. M.; Sornberger, K; Tallini, G; Morton, C. C.; Quade, B. J. (2001). ... R.; Weremowicz, S; Neskey, D. M.; Sornberger, K; Tallini, G; Morton, C. C.; Quade, B. J. (2001).
    HMGA2, ACTB, CD6, CD34, CYP19A1, PGR, VIM, YAP1, PACC1
  • Citrullinemia Wikipedia
    National Library of Medicine External links [ edit ] Classification D ICD - 10 : E72.2 ICD - 9-CM : 270.6 OMIM : 215700 605814 603471 MeSH : D020159 DiseasesDB : 29676 External resources eMedicine : ped/406 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
    ASS1, AASS, SLC25A13, ARSD, OTC, PRMT7, SLC25A33
    • Citrullinemia Type I GARD
      Citrullinemia type 1 is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. There are four types. The classic, most severe form, occurs in newborns, while a milder, later-onset form occurs in children or adults. There's also a form that occurs during or after pregnancy, and a form with no symptoms. In the classic form, symptoms occur right after birth and include excessive sleepiness, poor appetite, vomiting, and irritability. As ammonia builds up, muscle weakness, seizures, coma, and death can occur.
    • Citrullinemia Orphanet
      Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).
  • Smouldering Myeloma Wikipedia
    It is characterised as a pre-malignant disease that lacks symptoms but is associated with bone marrow biopsy showing the presence of an abnormal number of clonal myeloma cells, blood and/or urine containing a myeloma protein, and a significant risk of developing into a malignant disease. [2] Contents 1 Diagnosis 2 Treatment 3 Prognosis 4 References 5 Further reading Diagnosis [ edit ] Smouldering myeloma is characterised by: [4] Serum paraprotein >30 g/l or urinary monoclonal protein ≥500 mg per 24 h AND/OR Clonal plasma cells >10% and <60% on bone marrow biopsy AND No evidence of end organ damage that can be attributed to plasma cell disorder AND No myeloma-defining event (>60% plasma cells in bone marrow OR Involved/Uninvolved light chain ratio >100) Treatment [ edit ] Treatment for multiple myeloma is focused on therapies that decrease the clonal plasma cell population and consequently decrease the signs and symptoms of disease. ... PMID 24658815 . ^ Rajkumar, SV; Dimopoulos, MA; Palumbo, A; Blade, J; Merlini, G; Mateos, MV; Kumar, S; Hillengass, J; Kastritis, E; Richardson, P; Landgren, O; Paiva, B; Dispenzieri, A; Weiss, B; LeLeu, X; Zweegman, S; Lonial, S; Rosinol, L; Zamagni, E; Jagannath, S; Sezer, O; Kristinsson, SY; Caers, J; Usmani, SZ; Lahuerta, JJ; Johnsen, HE; Beksac, M; Cavo, M; Goldschmidt, H; Terpos, E; Kyle, RA; Anderson, KC; Durie, BG; Miguel, JF (November 2014). ... Further reading [ edit ] Barlogie B, van Rhee F, Shaughnessy JD, Epstein J, Yaccoby S, Pineda-Roman M, Hollmig K, Alsayed Y, Hoering A, Szymonifka J, Anaissie E, Petty N, Kumar NS, Srivastava G, Jenkins B, Crowley J, Zeldis JB (Oct 15, 2008). ... Pérez-Persona E, Vidriales MB, Mateo G, García-Sanz R, Mateos MV, de Coca AG, Galende J, Martín-Nuñez G, Alonso JM, de Las Heras N, Hernández JM, Martín A, López-Berges C, Orfao A, San Miguel JF (Oct 1, 2007). ... Kyle RA, Durie BG, Rajkumar SV, Landgren O, Blade J, Merlini G, Kröger N, Einsele H, Vesole DH, Dimopoulos M, San Miguel J, Avet-Loiseau H, Hajek R, Chen WM, Anderson KC, Ludwig H, Sonneveld P, Pavlovsky S, Palumbo A, Richardson PG, Barlogie B, Greipp P, Vescio R, Turesson I, Westin J, Boccadoro M (Jun 2010).
    MYOM2, SDC1, IL1B, CD38, CDKN2A, IL6, PTP4A3, TIMP3, TP53, VEGFA, MSC, SMR3B, ALB, CX3CL1, CARD8, B3GAT1, CD274, SLC12A9, IL21, MIR4741, MIR4633, RASSF1, LY9, MYC, MGMT, CCND1, CASP1, CCND3, CDKN1A, CDKN2B, CDKN2C, CDKN3, DAPK1, FGF2, CCN1, IL6R, CXCL8, KIT, LAG3, B2M, H3P10
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