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Burning Mouth Syndrome Wikipedia

De; Forssell, H.; Imamura, Y.; Jääskeläinen, S. K.; Koutris, M.; Nasri‐Heir, C.; Tan, H.; Renton, T.; Svensson, P. ... ISSN 1365-2842 . ^ a b c d e Treister, Jean M. Bruch, Nathaniel S. (2010). Clinical oral medicine and pathology . ... ISBN 9780443068966 . ^ a b c d e Glick, Martin S. Greenberg, Michael (2003). Burket's oral medicine diagnosis & treatment (10th ed.). ... Cawson, E.W. Odell; avec la collab. de S. (2002). Cawsonś essentials of oral pathology and oral medicine (7. ed.). ... ISBN 978-0443071065 . ^ Aggarwal, VR; Lovell, K; Peters, S; Javidi, H; Joughin, A; Goldthorpe, J (Nov 9, 2011).
Tarlov Cyst Wikipedia

PMID 11346849 . ^ a b Tanaka M.; Nakahara S.; Ito Y.; Nakinishi K.; Sugimoto Y.; Ikuma H.; et al. (2006). ... PMID 16508691 . ^ Ishii K.; Yuzurihara M.; Asamoto S.; Doi H.; Kubota M. (2007). "A huge presacral Tarlov cyst - Case report". Journal of Neurosurgery: Spine . 7 (2): 259–263. doi : 10.3171/spi-07/08/259 . PMID 17688070 . ^ a b c Guo D. S.; Shu K.; Chen R. D.; Ke C. S.; Zhu Y. ... S2CID 19865258 . ^ a b c d Singh P. K.; Singh V. K.; Azam A.; Gupta S. (2009). "Tarlov Cyst and Infertility" . ... PMID 22594432 . ^ Moldes M. R.; Rodriguez-Losada J. S.; Garcia D. L.; Agudo V. C.; Pais J.
- Perineural Cyst Orphanet
  
  A disorder that is characterized by the presence of cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy. Epidemiology The annual incidence of perineural cysts is estimated at approximately 5%, although large cysts that cause symptoms are relatively rare with annual incidence estimated at less than 1/2,000. Women are affected more frequently than men. Clinical description Patients with perineural cysts present with pain in the area of the nerves affected by the cyst, muscle weakness, difficulty sitting for prolonged periods, loss of sensation, loss of reflexes, pain when sneezing or coughing, swelling over the sacral area, parasthesias, headaches, sciatica, and bowel, bladder and sexual dysfunction. The cysts typically occur along the posterior nerve roots and can be valved or nonvalved. The main feature that distinguishes perineural cysts from other spinal lesions is the presence of spinal nerve root fibres within the cyst wall or in the cyst cavity.
- Tarlov Cysts GARD
  
  Treatment depends on the symptoms and size of the cyst(s). There are both surgical and non-surgical treatment options.
Nipah Virus Infection Wikipedia

Retrieved 21 May 2018 . ^ Luby SP, Hossain MJ, Gurley ES, Ahmed BN, Banu S, Khan SU, et al. (August 2009). "Recurrent zoonotic transmission of Nipah virus into humans, Bangladesh, 2001-2007" . ... National Public Radio (npr) . ^ a b Islam MS, Sazzad HM, Satter SM, Sultana S, Hossain MJ, Hasan M, et al. (April 2016). ... PMID 22875827 . ^ a b c Sharma, V; Kaushik, S; Kumar, R; Yadav, JP; Kaushik, S (January 2019). ... Press Trust of India. 23 July 2019. ^ Banerjee, S; Gupta, N; Kodan, P; Mittal, A; Ray, Y; Nischal, N; Soneja, M; Biswas, A; Wig, N (February 2019). ... PMID 15526144 . ^ Aljofan M, Saubern S, Meyer AG, Marsh G, Meers J, Mungall BA (June 2009).

IFNA1, IFNA13, EFNB2, LGALS1
Charcot-Marie-Tooth Neuropathy X Type 5 GeneReviews

Diagnosis Clinical Diagnosis X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), part of the spectrum of PRPS1 -related disorders, is characterized by the following: Peripheral neuropathy Motor nerve conduction velocities (NCVs) of affected males reveal delayed distal latencies and decreased amplitudes with relatively normal velocities (median motor NCV ≥38 m/s), consistent with an axonal neuropathy. ... Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... Therapies Under Investigation Dietary S -adenosylmethionine (SAM) supplementation could theoretically alleviate some of the symptoms of Arts syndrome by providing an oral source of purine nucleotide precursor that is not PRPP dependent.

PRPS1
- X-Linked Charcot-Marie-Tooth Disease Type 5 Orphanet
  
  X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.
- Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 OMIM
  
  A number sign (#) is used with this entry because X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5) is caused by loss-of-function mutation in the PRPS1 gene (311850) on chromosome Xq22. Loss-of-function PRPS1 mutations, resulting in decreased enzyme activity, can also cause Arts syndrome (ARTS; 301835) and X-linked deafness-1 (DFNX1; 304500). There is considerable phenotypic overlap between CMTX5, Arts syndrome, and DFNX1, as well as intrafamilial variability depending on gender, X-inactivation ratio, residual enzyme activity, and additional factors. Males tend to be more severely affected than females in all 3 disorders, although some females can show severe features. These disorders are best considered as representing a phenotypic spectrum (summary by Almoguera et al., 2014; Synofzik et al., 2014).
- Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive OMIM
  
  Clinical Features Iwashita et al. (1969, 1970) reported a Korean brother and sister with optic atrophy, hearing loss, and distal neurogenic atrophy. The older brother, who was more severely affected, was noted to have a peculiar hand posture at age 8 years. Both hands showed ulnar deviation and flexed fingers. At age 13, he developed progressive hearing and visual loss with optic atrophy, and began to have difficulty walking. Physical examination at age 25 years showed thoracic scoliosis, funnel chest, and a short right thumb. There were no foot deformities. He had marked distal muscle atrophy, more pronounced in the upper limbs.
Internet Sex Addiction Wikipedia

Retrieved 2 April 2013 . ^ a b Young, Kimberly S. (September 2008). "Internet sex addiction: Risk factors, stages of development, and treatment" . ... "Cybersex Addiction and Compulsivity". In Young, Kimberly S.; de Abreu, Cristiano Nabuco (eds.). ... Dependence Concepts Physical dependence Psychological dependence Withdrawal Disorders Drugs Alcoholism Amphetamine Barbiturate Benzodiazepine Caffeine Cannabis Cocaine Nicotine Opioid Non-drug stimuli Tanning dependence Treatment and management Detoxification Alcohol detoxification Drug detoxification Behavioral therapies Cognitive behavioral therapy Relapse prevention Contingency management Community reinforcement approach and family training Motivational enhancement therapy Motivational interviewing Motivational therapy Physical exercise Treatment programs Drug rehab Residential treatment center Heroin-assisted treatment Intensive outpatient program Methadone maintenance Smoking cessation Nicotine replacement therapy Tobacco cessation clinics in India Twelve-step program Support groups Addiction recovery groups List of twelve-step groups Harm reduction Category:Harm reduction Drug checking Reagent testing Low-threshold treatment programs Managed alcohol program Moderation Management Needle exchange program Responsible drug use Stimulant maintenance Supervised injection site Tobacco harm reduction See also Addiction medicine Allen Carr Category:Addiction Discrimination against drug addicts Dopamine dysregulation syndrome Cognitive control Inhibitory control Motivational salience Incentive salience Sober companion Category v t e Pornography Pornography Types Amateur Cartoon Hentai Tijuana bible Child Erotica Simulated Deepfake Feminist Hardcore Internet Mobile Phone Revenge Sexting Softcore Genres Alt Bisexual Bondage Casting couch Celebrity Sex tape Clothed female, naked male Clothed male, naked female Convent Ethnic Gang bang Gay Gonzo Incest Lesbian MILF Mormon Queer Rape Reality Tentacle Transgender Women's Related History Film actor Organizations Adult Film Association of America Critics Adult Film Association Fans of X-Rated Entertainment Free Speech Coalition X-Rated Critics Organization List of pornography companies List of pornographic film studios Opposition to pornography Movements Anti-pornography movement in the United Kingdom Anti-pornography movement in the United States Antipornography Civil Rights Ordinance Organizations Churchmen's Committee for Decent Publications Feminists Fighting Pornography Fight the New Drug The Marriage Vow No More Page 3 Stop Bild Sexism Stop Child Trafficking Now Stop Porn Culture Women Against Pornography Women Against Violence in Pornography and Media XXXchurch.com Overuse NoFap Content-control software Accountability software Parental controls Employee monitoring software Views Feminist Religious Sex-positive feminist Media Audio Film Parody Cartoon Magazines List Video games Eroge Newspaper features Page 3 Possible effects Addiction Internet sex addiction Pornography addiction Sex addiction Objectification of women / sexism STDs People Performers by decade British performers Gay male performers Pornographic actors who appeared in mainstream films Mainstream actors who have appeared in pornographic films Film directors Events Adultcon AVN Adult Entertainment Expo Barcelona International Erotic Film Festival Brussels International Festival of Eroticism Exotic Erotic Ball Exxxotica Expo HUMP Porn Sunday Miscellaneous Adult movie theater Blue Movie Golden Age Not safe for work Pornographication Pornotopia R18 certificate Rule 34 Sex shop Sexualization X rating See also Erotica Art Comics Film Literature Photography Sexual activity Ribaldry Right to sexuality Sex-positive movement Sexual repression Sexual revolution Category Erotica and pornography portal Human sexuality portal
Polyarteritis Nodosa Wikipedia

Diagnosis is generally based on the physical examination and a few laboratory studies that help confirm the diagnosis: [ citation needed ] CBC (may demonstrate an elevated white blood count) ESR (elevated) Perinuclear pattern of antineutrophil cytoplasmic antibodies ( p-ANCA ) - not associated with "classic" polyarteritis nodosa, but is present in a form of the disease affecting smaller blood vessels, known as microscopic polyangiitis or leukocytoclastic angiitis Tissue biopsy (reveals inflammation in small arteries, called arteritis ) Elevated C-reactive protein A patient is said to have polyarteritis nodosa if he or she has three of the 10 signs known as the 1990 American College of Rheumatology (ACR) [11] criteria, when a radiographic or pathological diagnosis of vasculitis is made: Weight loss greater than/equal to 4.5 kg Livedo reticularis (a mottled purplish skin discoloration over the extremities or torso) Testicular pain or tenderness (occasionally, a site biopsied for diagnosis) Muscle pain, weakness, or leg tenderness Nerve disease (either single or multiple) Diastolic blood pressure greater than 90 mmHg (high blood pressure) Elevated kidney blood tests (BUN greater than 40 mg/dL or creatinine greater than 1.5 mg/dL) Hepatitis B (not C) virus tests positive (for surface antigen or antibody) Arteriogram (angiogram) showing the arteries that are dilated ( aneurysms ) or constricted by the blood vessel inflammation Biopsy of tissue showing the arteritis (typically inflamed arteries): [12] The sural nerve is a frequent location for the biopsy. ... Retrieved 19 August 2013 . ^ a b c d e f g h i j k l m n o p q r s Forbess, L; Bannykh, S (2015). "Polyarteritis Nodosa".

ADA2, TP53, ACTB, MEFV, TNF, KRAS, CIP2A, HHLA2, PRPF8, DLEU1, ADGRG1, PTTG1, SF3B1, WASF1, INPP4B, VEGFA, TRE-TTC3-1, HSP90B2P, TREH, ACR, TERT, CD274, HSPA14, CLDN18, CHMP3, CRTAC1, FBXW7, ERAP2, SLFN11, PCAT4, POTED, MACC1, MIR30A, LOC100288966, BLACAT1, GCA, RPS19, CX3CL1, PRMT2, ADA, ADAM10, BCL6, BRCA1, ENTPD5, CDC20, COL11A1, CSF2, CTLA4, CTNNB1, ELF3, ESRRA, F2, HMGB1, HSPD1, RAD52, IL1B, IL2, JAK1, LAMP2, LEP, LEPR, MCAM, MET, MMP8, MPO, MSN, MYC, NOTCH1, PTEN, LOC107985770
- Polyarteritis Nodosa Orphanet
  
  A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract. Epidemiology Prevalence of polyarteritis nodosa (PAN) has been estimated at 1/33,000 in France, Norway and Sweden. Changes in classification of systemic vasculitis and more precise delineation of these disorders make it difficult to determine exact epidemiological data. Clinical description PAN is defined as vasculitis affecting medium-sized vessels and has no pathognomonic clinical or laboratory features.
- Systemic Polyarteritis Nodosa Orphanet
  
  Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.
- Polyarteritis Nodosa GARD
  
  Polyarteritis nodosa (PAN) is a blood vessel disease characterized by inflammation of small and medium-sized arteries ( vasculitis ), preventing them from bringing oxygen and food to organs. Most cases occur in the 4th or 5th decade of life, although it can occur at any age. PAN most commonly affects vessels related to the skin, joints, peripheral nerves, gastrointestinal tract, heart, eyes, and kidneys. Symptoms are caused by damage to affected organs and may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and joint aches, rashes, numbness, and abdominal pain. The underlying cause of PAN is unknown. Treatment involves medicines to suppress inflammation and the immune system, including steroids .
- Adenosine Deaminase 2 Deficiency Wikipedia
  
  . ^ Claassen D, Boals M, Bowling KM, Cooper GM, Cox J, Hershfield M, Lewis S, Wlodarski M, Weiss MJ, Estepp JH (2018) Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. ... S2CID 39815969 . ^ a b Hashem, Hasan; Kelly, Susan J.; Ganson, Nancy J.; Hershfield, Michael S. (2017-10-05). "Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders".
Myoepithelial Carcinoma GARD

Other symptoms vary depending on the site of the tumor and may include: hoarseness, nasal blockage, bleeding from the nose, pain, headaches, and facial weakness and paralysis.

EWSR1, SMARCB1, ALK, ANXA2, APC, NKX2-2, PLAG1, S100A1, S100B, SOX10, TGFBR3, NR4A3, SMUG1, ZNF444
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 .

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 Wikipedia
  
  CS1 maint: multiple names: authors list ( link ) ^ Akhtar S, Oza KK, Khan SA; et al. (1999). "Muir–Torre syndrome: a case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature".
Pierson Syndrome OMIM

., truncating mutations) appear to be associated consistently with the typical features of Pierson syndrome, including neonatal renal failure, severe ocular abnormalities, and neurologic impairment in long-term survivors, whereas patients with nontruncating (missense) LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome. Animal Model S-laminin/laminin beta-2, a homolog of the much more widely distributed laminin B1/beta-1 chain (150240), is a major component of adult renal glomerular basement membrane (GBM). ... In Lamb2-null mice, a model of Pierson syndrome, Jarad et al. (2006) observed ectopic deposition of several laminins and mislocalization of anionic sites in the GBM, suggesting that the Lamb2 -/- GBM is severely disorganized although ultrastructurally intact.

LAMB2, TNS2, COL4A3, LAMA2, NPHS1, NPHS2, RAPGEF5
- Pierson Syndrome Orphanet
  
  A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Epidemiology Less than 70 cases have been described in the literature to date. Clinical description Presentation is typically with congenital microcoria and heavy proteinuria. Proteinuria is usually nephrotic range, at or shortly after birth and progresses rapidly to early onset renal failure. The histological finding is usually diffuse mesangial sclerosis characterized by small and condensed appearance of glomerulus in which mesangial region shows some collagenous tissue.
- Pierson Syndrome GARD
  
  Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure ; neurodevelopmental problems ; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner.
Congenital Disorder Of Glycosylation, Type Ie OMIM

In 2 sibs, born of consanguineous Algerian parents, with CDG Ie, Dancourt et al. (2006) identified a homozygous splice site mutation in the DPM1 gene (603503.0005). ... INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive HEAD & NECK Head - Microcephaly, acquired - Flat occiput Face - Smooth philtrum - Micrognathia Eyes - Hypertelorism - Strabismus - Nystagmus - Downslanting palpebral fissures - Cortical blindness - Optic atrophy - Retinopathy Nose - Flat nasal bridge Mouth - High, narrow palate - 'Gothic' palate - Inverted 'V-shaped' mouth CARDIOVASCULAR Vascular - Patent ductus arteriosus RESPIRATORY - Respiratory distress ABDOMEN Liver - Hepatomegaly Spleen - Splenomegaly SKELETAL Limbs - Shortening of the arms - Knee contractures - Ankle contractures Hands - Small hands - Camptodactyly SKIN, NAILS, & HAIR Skin - Telangiectasia - Hemangiomas Nails - Dysplastic nails MUSCLE, SOFT TISSUES - Hypotonia - Muscular dystrophy - Wide variation in fiber size - Decreased glycosylation of alpha-dystroglycan NEUROLOGIC Central Nervous System - Global developmental delay, severe - Hypotonia - Seizures - Cerebellar ataxia - Tremor - Increased deep tendon reflexes in the lower limbs - No visual fixation - Abnormal EEG with epileptiform changes - Pontocerebellar atrophy - Decreased myelination seen on MRI - T2-weighted hyperintensities in subcortical brain regions seen on MRI HEMATOLOGY - Antithrombin III deficiency - Protein S deficiency - Protein C deficiency - Prolonged activated partial thromboplastin time (aPTT) LABORATORY ABNORMALITIES - Abnormal isoelectric focusing of serum transferrin (type I pattern) - Decreased tetrasialotransferrin levels - Increased disialotransferrin and asialotransferrin levels - Increased liver function tests - Increased serum creatine kinase MISCELLANEOUS - Onset in infancy - Progressive disorder - Variable severity MOLECULAR BASIS - Caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (DPM1, 603503.0001 ) ▲ Close

DPM1, ADNP-AS1, PMM2, ALG12
- Dpm1-Cdg Orphanet
  
  The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. Epidemiology The syndrome has been described in seven children. Etiology It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.
Charcot-Marie-Tooth Disease, Axonal, Type 2p OMIM

Molecular Genetics In affected members of a large consanguineous family with CMT2, Guernsey et al. (2010) found homozygosity for a splice site mutation in the LRSAM1 gene (610933.0001). ... INHERITANCE - Autosomal dominant - Autosomal recessive SKELETAL - Pes cavus (in some patients) - Hammertoes (in some patients) - Foot deformities MUSCLE, SOFT TISSUES - Distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs) - Distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs) - Muscle cramping NEUROLOGIC Peripheral Nervous System - Loss of ability to run due to lower limb weakness - Difficulty in heel-to-toe walking - Foot drop - Steppage gait - Fasciculations - Hyporeflexia - Areflexia - Distal sensory loss - Sensorimotor axonal neuropathy - Normal or mildly decreased motor nerve conduction velocity (NCV) (greater than 38 m/s) - Sural nerve biopsy shows axonal degeneration - Axonal degeneration/regeneration on nerve biopsy - Decreased number of myelinated fibers may be found MISCELLANEOUS - Peak age of onset in second decade (range childhood to 76 years) - Usually begins in feet and legs (peroneal distribution) - May progress to upper limbs - Onset usually in adulthood - Slowly progressive disorder - Some patients may become wheelchair-bound - Incomplete penetrance - Both homozygous and heterozygous mutations in LRSAM1 have been reported MOLECULAR BASIS - Caused by mutation in the leucine-rich repeat- and sterile alpha motif-containing 1 gene (LRSAM1, 610933.0001 ) ▲ Close

LRSAM1, MDM2
- Charcot-Marie-Tooth Disease Type 2p GARD
  
  Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation in the feet and legs. The most common type of sensation loss is to vibration, but proprioception (the sense of how we are oriented in space) and perception to pain may also be affected. Individuals with CMT2P may also have muscle twitches (fasciculations) and cramps (in younger patients) and muscular weakness and muscular wasting in the legs, feet and hands (in older individuals).
- Charcot-Marie-Tooth Disease Type 2p Orphanet
  
  Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.
Acute Proliferative Glomerulonephritis Wikipedia

This disorder produces proteins that have different antigenic determinants, which in turn have an affinity for sites in the glomerulus. As soon as binding occurs to the glomerulus, via interaction with properdin , the complement is activated. ... Retrieved 2015-10-31 . ^ Rodríguez-Iturbe, B.; Batsford, S. (June 2007). "Pathogenesis of poststreptococcal glomerulonephritis a century after Clemens von Pirquet".

GAPDH, HLA-A, MBL2, MYOM2, PRG4, SKA1, SKA2
Ependymoma Wikipedia

Prophylactic craniospinal irradiation is of variable use and is a source of controversy given that most recurrence occurs at the site of resection and therefore is of debatable efficacy. [10] [9] Confirmation of cerebrospinal infiltration warrants more expansive radiation fields. Prognosis of recurrence is poor and often indicates palliative care to manage symptoms. [11] References [ edit ] ^ PRITE 2010 Part II q.13 ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005).

RELA, C11orf95, EPHB2, GDNF, RTBDN, BCL7C, RAB3A, ZNF668, TP53, NF2, IDH1, APC, TSC2, ERBB2, MSH2, MSH6, IFNG, MLH1, SETBP1, TSC1, PMS2, CDKN2A, YAP1, EGFR, MME, VEGFA, OLIG2, MKI67, MGMT, MDM2, MIB1, TP73, TTR, PTEN, MYCN, TNC, MAMLD1, L1CAM, EPB41L3, MEN1, FGFR1, NOTCH1, H3P10, EZHIP, NCL, ANXA1, CD274, ATRX, SST, CCND1, DAPK1, RASSF1, MIR17, NES, CDKN2B, MUC1, CD44, TNFRSF10C, PROM1, ABCB1, PDGFRA, SLC9A3R1, IL6, KIT, CASP8, FGFR3, DCX, HIC1, SOX10, SMARCB1, ARHGAP24, ETFA, GFAP, TNFSF10, SYP, GATD3A, LINC00899, MIR146B, IL18R1, ABCC8, ZNF148, KRT75, MIR449A, STC1, PSCA, CLDN5, TRERNA1, TERT, LOC110806263, TPR, TIMP3, LINC02210-CRHR1, THBS1, ABCG2, SIK1B, TSPAN4, TWIST1, UBE2N, GATD3B, TDG, VEGFB, ZEB1, SYT1, AZIN2, MVP, MIR10B, DNAJC15, ZMYND10, SHC3, TET2, FBXW7, BEX1, MIR10A, MIR100, LINC01194, HES4, GADL1, ZFHX4, SIK1, ARMC9, ESX1, C1orf194, TP53INP1, GLS2, CBY1, MIR330, KIF4A, EBI3, MIR135B, AKR1A1, MIR34C, TUBB3, MIR29A, LRIG3, HOXB13, MIR24-1, IPO7, MIR221, MIR19A, MXD4, MIR181C, MIR15A, DICER1, HEY2, STAT3, JAG1, SPINK1, EPO, MECOM, EZH2, FCGR1A, FHIT, FOXJ1, FLT1, GH1, GNAO1, HOXA9, HES1, HTC2, HTR1B, IDH2, IGF2, IGFBP2, IGFBP3, IGFBP5, IL1R1, CXCL8, JAG2, JAK2, ERCC1, EPB41, SOX11, S1PR3, AQP1, ASAH1, BDNF, BRAF, CALCA, CALCR, CALR, CAPS, CAV1, RUNX1, CD34, CD38, CD151, CDK6, CHI3L1, CCR7, CRHR1, CTNNB1, DAXX, DRD1, DRD2, KDR, LAMA2, RPSA, STMN1, PTPRS, RAC2, RAD51, ALK, RBL2, RFX3, RRM1, S100A1, S100A2, S100A4, S100A6, S100A12, S100B, SHH, SLC6A8, SMN1, SMN2, SNCA, SNCG, SOX4, SOX9, PTPRA, PTGS2, PLG, NFIC, LRP1, MAP2, MDM4, MET, CD99, ABCC1, MSH3, NELL2, NF1, NFKB1, PIK3CG, NGF, OTX2, PAX5, PAX6, PCNA, PDGFRB, PIK3CA, PIK3CB, PIK3CD, RARB
- Ependymoma Orphanet
  
  Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.
- Ependymal Tumor Orphanet
  
  A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors).
Parkinson Plus Syndrome Wikipedia

. ^ Cecil Textbook of Medicine, 22nd edition, ISBN 0-7216-9652-X ^ a b c d Mitra K.; Gangopadhaya P. K.; Das S. K. (2003). "Parkinsonism plus syndrome—a review". ... "Loss of Dopamine-D2 Receptor Binding Sites in Parkinsonian Plus Syndromes" .
Hypopnea Wikipedia

Surgery is generally a last resort in hypopnea treatment, but is a site-specific option for the upper airway. ... book=Medical&va=hypopnea http://www.emedicine.com/neuro/TOPIC419.HTM http://www.sleepdex.org/dyssomnias.htm https://www.sciencedaily.com/releases/2007/10/071015081737.htm http://www.aasmnet.org/Resources/PracticeParameters/PP_MedicalTherapyOSA.pdf v t e Symptoms and signs relating to the respiratory system Auscultation Stethoscope Respiratory sounds Stridor Wheeze Crackles Rhonchi Stertor Squawk Pleural friction rub Fremitus Bronchophony Terminal secretions Elicited findings Percussion Pectoriloquy Whispered pectoriloquy Egophony Breathing Rate Apnea Prematurity Dyspnea Hyperventilation Hypoventilation Hyperpnea Tachypnea Hypopnea Bradypnea Pattern Agonal respiration Biot's respiration Cheyne–Stokes respiration Kussmaul breathing Ataxic respiration Other Respiratory distress Respiratory arrest Orthopnea / Platypnea Trepopnea Aerophagia Asphyxia Breath holding Mouth breathing Snoring Other Chest pain In children Precordial catch syndrome Pleurisy Nail clubbing Cyanosis Cough Sputum Hemoptysis Epistaxis Silhouette sign Post-nasal drip Hiccup COPD Hoover's sign asthma Curschmann's spirals Charcot–Leyden crystals chronic bronchitis Reid index sarcoidosis Kveim test pulmonary embolism Hampton hump Westermark sign pulmonary edema Kerley lines Hamman's sign Golden S sign
Fibrosarcoma Wikipedia

It is also the most common vaccine-associated sarcoma . [7] In 2014, Merial launched Oncept IL-2 in Europe for the management of such feline fibrosarcomas. [8] Bostock DE, et al. performed a study of cats that had fibrosarcomas excised and were followed for a minimum of 3 years, or until death. Two factors, tumor site and mitotic index, were found to be of prognostic significance, but tumor size, duration of growth, and histologic appearance were not. ... PMID 27020209 . ^ Wang ZP, Li K, Dong KR, Xiao XM, Zheng S (2014). "Congenital mesoblastic nephroma: Clinical analysis of eight cases and a review of the literature" .

ETV6, NTRK3, NF1, COL1A1, PDGFB, MTAP, MMP2, FOXC2, PLG, MMP14, FN1, MMP9, VEGFA, CDC123, TP53, TNF, HIF1A, EGR1, SERPINB2, PLAT, TIMP2, FGF2, GPI, SERPINE1, CCND1, F3, TGFB1, CD44, HRAS, IDH1, EWSR1, ANPEP, CTNNB1, MMP1, MDM2, ABCB1, IL2, LPA, MMP3, JAK1, TFPI2, SDC2, CDKN2A, GLB1, PLAU, MAPK1, HSPG2, BRAF, STAT1, HEATR3, RAF1, FUS, GFAP, CXCL8, IL6, HPRT1, TBC1D9, HSPA5, SETD2, HSP90AA1, TNC, IFNG, IL17A, PTEN, NRAS, PDX1, MAP2K7, TEK, TBX3, TNFRSF1B, TP53BP1, SOX2, SMARCB1, CXCL11, VEGFC, RAC1, PTX3, TNFSF10, MAP2K1, RALBP1, MAPK8, PROM1, PIK3CG, PIK3CD, PIK3CB, PIK3CA, HCCS, MKI67, MET, NES, JUN, HGF, ZHX2, TIMP1, BCL2, CASP3, DDIT3, ERBB2, MIB1, EPHB2, FLT1, ANXA5, CREB3L1, ANG, DLD, ANGPT4, E2F1, CREB3L2, CSF2, GJA1, NR3C1, EGFR, CREG1, DDX53, CTAG1A, GLIS3, FADD, RIPK1, GGH, MLKL, RNMT, CDK5R1, SLFN5, TTL, RHBDF2, SLTM, CLDN2, ANGPTL1, HSPB3, ALPK1, ARHGEF7, SPZ1, SLC39A13, PRRT2, TNFRSF13C, KCNH8, TMED10P1, SLCO6A1, NCOA7, TP63, COLQ, KHSRP, MIR197, TRAF2, MIR409, TPT1, TPSAB1, POU5F1P3, TOP1, POU5F1P4, TNFRSF1A, POTEF, KTWS, TMSB4X, H3P41, NR2E1, KLRC4-KLRK1, H3P17, TXN, MIR155, RECK, TYK2, TRIM59, CER1, MIA, HMGA2, RSPO2, AIMP2, CNBP, XPA, VTN, TRPV1, ZFP57, GSTK1, UQCRFS1, UCN, RTL1, LPAR2, HSPA14, GRAP2, ABCG2, TTLL1, C3CER1, LAMTOR1, KCNH4, MAU2, FBXW11, RIF1, KLRK1, MNS1, THBS1, MEG3, CILK1, INSL6, LRIF1, PSIP1, RNF19A, PGPEP1, POLDIP2, ADGRE2, GAL, ASCC1, GP6, FOXP3, MINK1, REV1, CD274, AHI1, PYCARD, NCKIPSD, WWOX, ARFIP1, MAP3K20, SIGLEC7, SOX21, RIPK3, TMED10, SMYD3, WFDC1, RHBDF1, MMP25, MAFB, GORASP1, PCLAF, HDAC9, ARL4C, TCL1B, AKAP12, CXCL14, ADAMTS1, CHST3, WNK1, TNFSF15, ZNF398, SLC12A9, PDLIM5, HPSE, PDXP, PTGES3, POLD3, EBP, CD226, LPAR5, NAMPT, AHSA1, MCRS1, IRF9, AKR1A1, SPRY2, RBM5, TBPL1, ACTB, TGFB2, IL1B, GDF10, GCG, FOSB, FOS, FLNA, MLANA, FLI1, FGF1, FBLN1, ETV4, EPHB4, EPHA3, ELK1, SLC26A2, DPYS, DPYD, DECR1, GLO1, GPX4, GSK3B, HSPD1, IGF2, IGF1R, IGF1, IFNB1, IFNA13, IFNA1, ICAM1, HSPB2, HCLS1, HSPB1, HSPA4, HSPA1B, HSPA1A, HLA-C, HK1, HDAC1, ACE, CUX1, CCN2, ARF6, BGN, BGLAP, BCL2L1, ATR, ATM, ATF4, STS, APRT, VPS51, ANXA3, AMFR, AKR1B1, ALDH1A1, AKT1, JAG1, AGER, PRDM1, CAD, CTAG1B, CMA1, CST3, CSF1R, MAPK14, CRK, CPE, COL1A2, ABCC2, CLU, CASP2, CDKN2B, CDKN1A, ADGRE5, CD40, CD36, CAV1, CASP8, IL1A, IL2RB, TERT, IL10, RELA, RAP1A, RAD51B, RAD51, RAD17, RAC2, PXN, PVR, PTK7, PTK2, PTGS2, PARP1, PSAP, PRKCB, PRKCA, POU5F1, PIN1, RET, RNU2-1, ROS1, STK3, TERF2, TCF3, TBX5, TAZ, TAT, SYT1, SYN1, STAT2, RRAS, SP1, SNRPE, SMPD1, SDC1, CCL5, CCL2, RRM2, PGF, PDGFRB, PC, KDR, MDM4, SMAD2, LRP6, LIMK2, LDLR, LAG3, KIF5B, JUND, MAP3K5, JUNB, JBS, ITGB3, ITGAM, ITGA5, ITGA2, IL15, MAP3K1, MFAP1, PAM, NFKB1, PAK1, PRDX1, PAEP, ODC1, ROR1, NME2, NGF, NEUROD1, KITLG, MYC, MUC4, MTF1, MSH2, MMP13, MLLT1, KMT2A, H3P40
- Cerebral Sarcoma OMIM
  
  In 2 families Gainer et al. (1975) observed 4 cases of cerebral fibrosarcoma (father and daughter; 2 sisters). Oncology - Cerebral fibrosarcoma Inheritance - Autosomal Dominant ▲ Close
Anemia, Congenital Dyserythropoietic, Type Ia OMIM

In affected persons, the erythroid precursors demonstrated S phase arrest and ultrastructural morphologic features consistent with apoptosis. ... Informative crossover events identified by haplotype analysis narrowed the area containing the CDA I gene to approximately 5 cM within the region stated. They suggested that the site where the CDA III gene had been mapped was approximately 20 cM telomeric to the locus for CDA I.

CDAN1, C15orf41, SEC23B, KLF1, GDF15, CBX5, HAMP, ERFE
- Congenital Dyserythropoietic Anemia Type I GeneReviews
  
  Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. ... In 60% of affected individuals two pathogenic variants were identified by sequence analysis, in 28% only one pathogenic variant was identified, and in 11% no pathogenic variant was identified (Note: Testing to detect splice site variants and large deletions was not performed) [Authors and other labs, combined data, unpublished]. 8. ... It is also known as HEMPAS ( h ereditary e rythroblastic m ultinuclearity with p ositive a cidified s erum lysis test) because the RBCs of affected individuals are lysed by acidified sera of 40%-60% of healthy adults due to the presence of natural cold-reacting IgM antibody.
- Anemia, Congenital Dyserythropoietic, Type Ib OMIM
  
  A number sign (#) is used with this entry because congenital dyserythropoietic anemia type Ib (CDAN1B) is caused by homozygous mutation in the C15ORF41 gene (615626) on chromosome 15q14. Description Congenital dyserythropoietic anemia type I is an autosomal recessive hematologic disorder characterized by congenital macrocytic anemia secondary to ineffective erythropoiesis. The bone marrow shows erythroid hyperplasia, with nuclear abnormalities in most erythroblasts. Up to 3% of erythroblasts have interchromatin bridges, and erythroblast nuclei are abnormally electron dense with spongy ('Swiss cheese-like') heterochromatin on electron microscopy. Some reported patients have distal digital abnormalities (summary by Ahmed et al., 2006).
- Congenital Dyserythropoietic Anemia Type 1 GARD
  
  Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia . It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis).
- Congenital Dyserythropoietic Anemia MedlinePlus
  
  Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia , which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications. Researchers have identified three major types of CDA: type I, type II, and type III.
- Congenital Dyserythropoietic Anemia Type I Orphanet
  
  Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. Epidemiology The prevalence is unknown. Over a 42 year period (from 1967-2009), 122 CDA I cases were reported in Europe. Clinical description CDA I usually presents in the first decade of life. Manifestations include a moderate macrocytic anemia associated with intermittent jaundice, frequent splenomegaly and occasional hepatomegaly. Approximately 1/3 of CDA I patients may also have congenital malformations of the limbs (supernummary toes, hand or feet syndactyly, absence of nails) or heart (ventricular septal defect), double kidneys, short stature or hip dysplasia.
- Congenital Dyserythropoietic Anemia Type I Wikipedia
  
  Congenital dyserythropoietic anemia type I (CDA I) is a disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells (RBCs). [1] Congenital dyserythropoietic anemia type I Specialty Hematology Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 See also 6 References 7 Further reading 8 External links Presentation [ edit ] Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and/or toes. [2] Genetics [ edit ] CDA type I is transmitted by both parents autosomal recessively and usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I.
Inflammation Wikipedia

The neutrophils migrate along a chemotactic gradient created by the local cells to reach the site of injury. [10] The loss of function ( functio laesa ) is probably the result of a neurological reflex in response to pain. ... These clotting mediators also provide a structural staging framework at the inflammatory tissue site in the form of a fibrin lattice – as would construction scaffolding at a construction site – for the purpose of aiding phagocytic debridement and wound repair later on. ... The coagulation system or clotting cascade , which forms a protective protein mesh over sites of injury. The fibrinolysis system , which acts in opposition to the coagulation system , to counterbalance clotting and generate several other inflammatory mediators. ... These cells must be able to move to the site of injury from their usual location in the blood, therefore mechanisms exist to recruit and direct leukocytes to the appropriate place. ... Typically, several hundreds to thousands of genes are methylated in a cancer cell (see DNA methylation in cancer ). Sites of oxidative damage in chromatin can recruit complexes that contain DNA methyltransferases (DNMTs), a histone deacetylase ( SIRT1 ), and a histone methyltransferase (EZH2) , and thus induce DNA methylation. [31] [40] [41] DNA methylation of a CpG island in a promoter region may cause silencing of its downstream gene (see CpG site and regulation of transcription in cancer ).

TNF, CRP, PTGS2, IL6, IL1B, TLR2, MIF, ICAM1, IL10, CCL2, BDNF, PPARG, TRPV1, IL1RN, TAC1, FGF2, PTGES, BDKRB2, NGF, CALCA, PTGER4, CXCL8, TGFB1, LEP, IFNG, ADIPOQ, IL17A, HMOX1, TLR4, F2RL1, HMGB1, MMP9, VEGFA, MPO, SOD1, PARP1, SCGB1A1, UCN, TIMP1, IL13, LTB4R, BDKRB1, CSF2, PPARA, AGER, AHR, TLR9, PLAUR, NOS2, LCN2, LTF, NLRP3, TNFRSF11B, CXCR3, APOA1, PROCR, IDO1, MMP2, TNFSF15, F2R, TSLP, EGR1, EIF4EBP1, EPO, CCL4, CCL11, CCL3, MYD88, MVK, EFNB1, EDN1, RORC, PTPN1, COL2A1, JAK2, OXT, IRF7, CRHR2, ABCB4, CHRNA4, CHRNB2, NPPB, SLC22A5, CLN6, GATA3, MASP2, DUSP10, TREX1, ANGPT1, IL17RA, TBX21, GAL, AKT1, SELENOS, CXCL2, AGT, UCN3, IFNL3, MIR21, MIR217, MIR22, ASIC1, ASIC2, MIR34A, GALNS, SH2B3, NR1H4, WDR1, STAT3, SULT2B1, TF, TFRC, TGFA, CD3E, CCK, TNFAIP3, TP73, TSC2, ZFP36, IL1A, KYNU, TRPA1, ASIC3, ATP7B, PLAA, STS, CASP1, IL15, CXCL1, ANXA1, TLR6, CCL5, F11R, KLK1, APOA4, ABCB1, MUC2, TACR3, ACSL6, HP, PDPN, PDE5A, NPFF, TFAM, SDC1, TACR1, NPY5R, CXCR2, S100A8, PLA2G4A, PIK3CG, PCSK2, PCSK1, OPRM1, KCNK2, NTRK2, SPINK1, A2M, SERPINC1, F3, ACSL4, ACSL3, CCR5, AIF1, FGG, CDK5, CX3CR1, CYP1A1, CAMK2A, ADORA1, EGFR, ALOX5, SERPINA3, ALOX5AP, MTOR, CCL20, IL23A, NFKB1, CX3CL1, IL18, ELANE, PRTN3, PROC, THBS1, CD40, SERPINE1, C5, MMP3, HSPA4, NOS3, RELA, CCR6, SPP1, NOD1, PLAU, RETN, CNR2, CXCL10, ADM, NOD2, IL33, MAPK14, S100B, SAA1, TNFSF13B, CEACAM1, NFE2L2, CRYAB, DEFB4A, PGF, APP, S100A9, CST3, TNFSF18, POMC, TNFSF14, NTF3, MT2A, TNFRSF1A, BMP4, TNFSF10, CCL21, TNFAIP6, FOXP3, CFTR, HGF, TP53, TPSAB1, VEGFC, EOLA1, CD40LG, CD44, FGF1, IL25, HAMP, KNG1, C1QBP, VWF, MBL2, SELPLG, SLC15A1, NR3C2, GHRL, SELP, C3AR1, C3, IL32, VCAM1, CD83, TNFSF12, C4A, TYROBP, C4B, SOCS1, CD163, CYP7B1, TNFRSF17, BST1, VEGFB, BSG, SLC28A2, TNFSF13, SOCS3, VIP, SERPING1, VTN, PLA2G6, BPI, APLN, TNFRSF18, YWHAG, TFPI2, YWHAH, DAP3, MADCAM1, GTF2A1, NTN1, AQP7, ADA2, TREM1, DLL4, AHSG, AGTR1, APOM, SCUBE2, CXCL16, SLC28A3, RASL11B, ADIPOR2, TREML2, SCUBE1, SETD7, ADRB3, LACRT, TNFRSF13C, APOA5, CD200R1, CLEC12A, IL27, PYDC1, ADCYAP1, PLA2G4D, NLRP10, ENPP7, ADAR, ADA, ACP5, TNFRSF12A, KCNK9, TLR7, APCS, CXCL14, AQP4, AQP3, FASLG, FAS, NAMPT, CCL26, KLF2, APOD, TXNIP, AQP8, BIRC5, LIAS, PTGDR2, ADIPOR1, ANGPT2, NCOA6, ANG, SIRT1, TNFRSF13B, BIN1, PRDX5, EHF, IL36A, PADI1, ALPL, IL20, IL22, LILRB1, CHI3L1, C5AR1, MMP10, F11, LIF, LIMK1, F7, SMAD3, SMAD7, MAZ, MEFV, CD99, MME, MMP1, F2, ELF3, CD200, FCAR, MUC1, EGF, DSG2, NCAM1, DMBT1, NAT1, NPPC, DEFA3, NTF4, DEFA1, DDT, CYP19A1, CYP2C19, KCNK3, FCGR1A, CACNA1C, FPR2, NRG1, HIF1A, NR3C1, GRN, GH1, HRH1, HSP90AA1, HSPD1, GCH1, ACKR1, IGF1, GAST, IL1RAP, IL4R, ITIH2, FN1, FLT3LG, FLT1, FKBP4, IL12A, IL12B, FGF7, TNFRSF9, FCGR3A, IRF1, FCGR2A, ITGA1, ITGAL, PDGFA, PDGFB, PDGFRB, SPRR1B, CCR8, CCR7, CCL13, CCL18, CCL19, CXCL6, CXCL11, CLU, CXCL12, SELE, SFTPD, GZMA, CDKN1A, STC1, PECAM1, CDH1, CD68, CD48, CD47, CD38, CD28, TGM2, THBD, CAT, TIMP4, CAMP, TLR3, TMSB4X, ACKR2, CCL1, SERPINB4, SERPINB3, SERPINF1, PF4, PGR, CTSG, CTSB, PHB, SERPINA1, PIGF, CTNNB1, PLAT, CSF1, PLCB3, PLP1, PON1, PRKAA1, PRKCD, PRSS3, PTEN, CRH, CPB2, PTN, CNTF, PTX3, RET, S100A7, CNR1, S100A12, CARD17
Wiskott-Aldrich Syndrome OMIM

Most of the nonsense, frameshift, and splice site mutations were found in exons 6 to 11. ... Analysis of the sequence surrounding the mutation site showed that the 6-bp insertion followed a tandem repeat of the same 6 nucleotides. ... The second-site mutations resulted in the production of altered, but possibly functional, protein. All second-site mutations in both patients occurred in the same nucleotide triplet in which the truncation mutation occurred. ... Boztug et al. (2008) suggested that the second-site mutations may confer a proliferative advantage to the affected cells in these patients.

WAS, WIPF1, FOXP3, ACTB, SPN, ACTR2, AICDA, ANGPTL2, FUT1, ADA, TIMP1, CD34, IL2, NOL3, WASF1, CD28, OTC, WASL, DOCK8, G6PD, BTK, TBX21, CDC42, CD19, TBC1D25, USF2, THPO, ZNF182, CXCL12, TFE3, CXCR4, TRBV20OR9-2, UBL4A, ATXN2, SYP, ACTR3, BCAR1, NELFCD, G6PC3, MIB1, VPS35, INTS8, QRSL1, NCKIPSD, ICOS, ARPC1B, CCNDBP1, WASF3, TNFSF13B, CIB1, HAX1, RAC2, RAG1, PFN1, PTK2, FCER2, CTTN, ELANE, CSF2, CSF1, CR2, COX8A, CD69, CD40LG, CD27, CASP3, CAST, SLC25A20, CA2, C4BPA, BCL6, AR, FAS, FBN1, FCGR2B, PSMA7, FLNA, PPARG, PKD2, PGK1, NFATC2, NFATC1, NCK1, LY6E, LIG4, ITGB3, ISG20, IL6, IL4, IL2RG, IL2RA, IGHG3, NCKAP1L, GFI1, WIPF2
- Wiskott-Aldrich Syndrome 2 OMIM
  
  A number sign (#) is used with this entry because of evidence that Wiskott-Aldrich syndrome-2 (WAS2) is caused by homozygous mutation in the WIPF1 gene (602357) on chromosome 2q31. One such patient has been reported. For a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS (301000). Clinical Features Conley et al. (1992) raised the possibility of the existence of an autosomal recessive form of Wiskott Aldrich syndrome. They observed an 8-year-old girl with a disorder phenotypically identical to the disorder in males with an X-linked mutation (WAS; 301000). Cytogenetic studies showed no structural abnormalities of the X chromosome and X-chromosome inactivation analysis showed that both X chromosomes could function as the active X.
- Wiskott-Aldrich Syndrome Orphanet
  
  A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. Epidemiology The incidence of WAS has been estimated at less than 1 in 100,000 live births. The disease almost exclusively affects males. Clinical description WAS usually manifests in infancy but onset may also occur during the neonatal period. In most cases the first clinical features are hemorrhagic manifestations with petechiae, bruising, purpura, epistaxis, oral bleeding, bloody diarrhea and intracranial bleeding. Acute or chronic eczema is the second characteristic finding of WAS. Due to combined immunodeficiency, most patients also have airway, gut or skin infections caused by regular or opportunistic germs.
- Wiskott-Aldrich Syndrome MedlinePlus
  
  Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots . This condition primarily affects males. Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae. In some cases, particularly if a bleeding episode occurs within the brain, prolonged bleeding can be life-threatening.
- Wiskott Aldrich Syndrome GARD
  
  Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections and to immune and inflammatory disorders; and an increased risk for some cancers (such as lymphoma ). Also, a skin condition known as eczema is common in people with WAS. Wiskott Aldrich syndrome is caused by mutations in the WAS gene and is inherited in an X-linked manner. It primarily affects males. Treatment may depend on severity and symptoms in each person, but hematopoietic cell transplantation is the only known cure. Hematopoietic cells are the blood-forming stem cells that can be found mainly in the sponge-like material found inside bones (bone marrow), but also in the bloodstream (peripheral blood stem cells (PBSCs), and in the umbilical cord.
- Wiskott–aldrich Syndrome Wikipedia
  
  . ^ a b Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. (December 2004). ... PMC 5096819 . PMID 27643436 . ^ Chandra S, Bronicki L, Nagaraj CB, Zhang K (1993). ... PMID 22826711 . ^ a b Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, et al. ... PMID 21659547 . ^ Shin, C R; Kim, M-O; Li, D; Bleesing, J J; Harris, R; Mehta, P; Jodele, S; Jordan, M B; Marsh, R A; Davies, S M; Filipovich, A H (2012-03-19). ... PMID 21067383 . ^ a b Aiuti A, Biasco L, Scaramuzza S, Ferrua F, Cicalese MP, Baricordi C, et al.
- Wiskott-Aldrich Syndrome, Autosomal Dominant Form OMIM
  
  Neri et al. (1995) raised the possibility of an autosomal dominant form of Wiskott-Aldrich syndrome on the basis of a 3-generation family in which several members presented clinical and laboratory findings of WAS (301000), including decreased CD43 expression on T lymphocytes. The gene for CD43, or sialophorin (SPN; 182160), is located on 16p11.2. However, no alteration of CD43 was found: Southern blot analysis failed to detect gross abnormalities of the CD43 gene and genotype analysis showed that the affected family members did not share a common CD43 allele. INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Head - Sinusitis Ears - Otitis media Nose - Epistaxis Mouth - Oral bleeding CARDIOVASCULAR Vascular - Small and large vessel vasculitis RESPIRATORY Airways - Upper respiratory tract infections - Lower respiratory tract infections Lung - Pneumonia ABDOMEN Gastrointestinal - Diarrhea - Inflammatory bowel disease GENITOURINARY Kidneys - Nephropathy SKIN, NAILS, & HAIR Skin - Eczema NEUROLOGIC Central Nervous System - Meningitis HEMATOLOGY - Thrombocytopenia - Small platelet size - Hemolytic anemia - Iron deficiency anemia - CD43 (sialophorin) defectively expressed on surface of blood cells IMMUNOLOGY - Moderately depressed antibody response to polysaccharide antigens - Lymphopenia - Abnormal delayed hypersensitivity skin test - Absent microvilli on the surface of peripheral blood lymphocytes - Decreased CD3+ cells subset - Decreased CD4+ cells subset - Decreased CD8+ cells subset LABORATORY ABNORMALITIES - Prolonged bleeding time - Normal IgG levels - Increased IgA levels - Increased IgE levels - Reduced IgM levels - Raised erythrocyte sedimentation rate - Raised C-reactive protein MISCELLANEOUS - Normal sialophorin gene ▲ Close
Urinary Tract Infection (Uti) Mayo Clinic

Risk factors for UTI s that are specific to women include: Female anatomy. ... Being sexually active tends to lead to more UTI s. Having a new sexual partner also increases risk. ... The changes can increase the risk of UTI s. Other risk factors for UTI s include: Urinary tract problems. ... As a result, risk of UTI s is higher. A suppressed immune system. ... Researchers continue to study the ability of cranberry juice to prevent UTI s, but results aren't final. There's little harm in drinking cranberry juice if you feel it helps you prevent UTI s, but watch the calories.

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