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  • Peripheral Neuropathy Wikipedia
    Motor symptoms include loss of function ("negative") symptoms of weakness, tiredness , muscle atrophy, and gait abnormalities ; and gain of function ("positive") symptoms of cramps , and muscle twitch ( fasciculations ). [28] In the most common form, length-dependent peripheral neuropathy, pain and parasthesia appears symmetrically and generally at the terminals of the longest nerves, which are in the lower legs and feet. ... Length-dependent peripheral neuropathy symptoms make a slow ascent of the lower limbs, while symptoms may never appear in the upper limbs; if they do, it will be around the time that leg symptoms reach the knee. [29] When the nerves of the autonomic nervous system are affected, symptoms may include constipation, dry mouth, difficulty urinating, and dizziness when standing . [28] A user-friendly, disease-specific, quality-of-life scale can be used to monitor how someone is doing living with the burden of chronic, sensorimotor polyneuropathy. ... Laboratory tests include blood tests for vitamin B-12 levels, a complete blood count , measurement of thyroid stimulating hormone levels, a comprehensive metabolic panel screening for diabetes and pre-diabetes, and a serum immunofixation test , which tests for antibodies in the blood. [28] Treatment [ edit ] The treatment of peripheral neuropathy varies based on the cause of the condition, and treating the underlying condition can aid in the management of neuropathy. ... Online Etymology Dictionary . ^ "Volume 12, Spring 1999 | University of Pennsylvania Orthopaedic Journal" . Retrieved 2019-10-28 . ^ "Dorlands Medical Dictionary:mononeuropathy" . ^ a b Sugimoto K, Yasujima M, Yagihashi S (2008).
    ARTN, TLR3, LTC4S, NEFL, PMP2, LMNA, TYMP, NGLY1, CHRNG, COX6A1, IARS2, SPTLC3, ATAD3A, GJB1, QRICH1, BRAF, PEX5, PMP22, KIF1A, DNAJB5, TPI1, TTR, ABCC6, PEX11B, MFN2, HSPB1, CEP72, TNF, GJB3, NFE2L2, SARM1, ABCB1, PRNP, LY6E, AIFM1, SPTLC1, DNM2, TRPV4, MPZ, TRPV1, BDNF, ATXN2, SACS, IL10, VEGFA, FIG4, APOE, GABPA, FXN, YARS1, HMGB1, POLG, HARS1, APTX, GPT, PLP1, PRPS1, NGF, KIF1B, CYP3A5, MMP9, MTM1, SLC12A6, HDAC6, PIK3CA, ATXN3, LITAF, ACTG1, AKR1A1, SIGMAR1, HFE, HGF, HSPB8, IFNG, NAMPT, SETX, AFP, IGF1, ARHGEF10, LAMC2, IL6, AIRE, PIK3CB, AKR1B1, KIF5A, ITIH4, SBF2, S100B, PIK3CD, CSF2, PRKCB, KMT2D, PIK3CG, EGFR, PRRT2, MAPK14, ACE, ST3GAL4, REEP1, MTMR2, MYH14, CYP2C8, SPG11, REN, PRKCA, GSTP1, NDRG1, PMM2, ZBTB17, GARS1, GFER, SLC22A4, CAV3, GFAP, ABCG1, AIMP2, TP53, TSFM, RAB7A, NR1I2, EIF2B5, TFG, TUBB3, XPA, HSPB3, TYMS, SCO2, LRIG2, TRPA1, SPTLC2, MYOT, GRAP2, VCP, CST7, ELP1, DCLRE1A, CUL4B, MAD2L1BP, FHL5, SERPINA3, SEMA4D, EHMT1, CYP2U1, SCA18, C12orf65, SLC25A46, DGAT2, TUBB1, SH3TC2, NIPA1, WNK1, EBF2, INF2, VSIR, PRX, EP400, FGD4, CPT1C, MFF, MIR29A, ZGLP1, SPG36, D2HGDH, POTEM, MIR381, POTEKP, MIR146A, TCHHL1, GSTK1, ACTBL2, LAMA1, EPGN, NRG4, SLCO6A1, SCYL1, SEPTIN3, FBLN5, RPIA, HARS2, TRIM2, AGTPBP1, RHOBTB2, MCF2L2, NMNAT2, RAB3GAP1, THBD, ACOT7, IMMT, SEPTIN9, RAI1, AVIL, AHSA1, FBXO7, POLDIP2, NLRP2, PTRH2, MEG3, SLC47A1, ANO10, KRT20, GDAP1, TREM2, CRBN, KIFBP, ATL1, DHH, SOX8, CD274, DBNL, FGF21, RNF19A, MAPK1, THAS, PTK2B, GHSR, GCG, FOLR1, FGF14, FGF2, FAP, FAAH, DES, F2RL1, EPO, ENO2, CTTN, EGR2, DYNC1I1, GLA, GLP1R, PRLHR, GPX1, GRIN1, GRIN2A, GRIN2B, CXCL1, GSK3B, GSTM1, GSTT1, HADHA, HINT1, HMBS, HSPB2, IFRD1, IGFALS, DLG4, DDIT3, IL1B, FAS, CD86, MS4A1, CCNH, CAPG, BMP7, ARSA, ANK1, DAG1, ALOX15, ABCD1, ALB, AGRP, ACTG2, ACTB, TNFRSF8, CD59, LTB4R, CNR2, CRK, CRP, CSF1R, CSF3, CST3, CCN2, CTLA4, CTNNB1, CTSS, CX3CR1, CYP2E1, CYP3A4, CYP17A1, IGHMBP2, IL1RN, TGFB1, PRTN3, SBF1, RARRES2, PTPN13, PTK2, PTEN, PSMB1, PRPH, OPA1, AARS1, POU3F1, ABCB4, PGR, PDK3, PRKN, ATXN1, ATXN7, SCN2A, SCN4A, SCN9A, CCL4, SLC22A5, SOD1, SOX10, SOX11, SPAST, SPR, STK11, SURF1, TACR1, TCF4, TCN2, P2RX3, NOTCH1, IL2, KDR, SMAD3, LYZ, LRP1, LEP, LDLR, LAMA2, KARS1, NOS1, INS, CXCR2, IL9, CXCR1, CXCL8, IL4, MAG, MAP1B, MAP4, MAPT, MPO, MPV17, ATP6, CYTB, MTHFR, ND2, ND5, MTR, MYD88, MYO5A, NAIP, NCAM1, NGFR, GJE1
  • Secondary Hypertension Wikipedia
    It seems that inhibition of nitric oxide synthesis may also play a role in cortisol induced hypertension. [21] Yet another related disorder causing hypertension is glucocorticoid remediable aldosteronism , which is an autosomal dominant disorder in which the increase in aldosterone secretion produced by ACTH is no longer transient, causing of primary hyperaldosteronism , the Gene mutated will result in an aldosterone synthase that is ACTH -sensitive, which is normally not. [22] [23] [24] [25] [26] GRA appears to be the most common monogenic form of human hypertension. [27] Compare these effects to those seen in Conn's disease , an adrenocortical tumor which causes excess release of aldosterone, [28] that leads to hypertension. [29] [30] [31] Another adrenal related cause is Cushing's syndrome which is a disorder caused by high levels of cortisol . ... Nature Reviews Nephrology . 5 (4): 221–28. doi : 10.1038/nrneph.2009.13 . PMC 2720315 . ... "Natural history of primary IgA nephropathy" . Seminars in Nephrology . 28 (1): 4–9. doi : 10.1016/j.semnephrol.2007.10.001 .
    REN, APOL1, AGT, AGTR1, MIR27B, SH2B2, RAPGEF5, SLC33A1, F2RL3, TAGLN, SGK1, NOTCH1, MYH9, KCNJ5, GH1, FAAH, CHGA, ATP2B3, ATP1A1, ATM, KLK3, PGR-AS1
    • Secondary Hypertension Mayo_clinic
      Overview Secondary high blood pressure (secondary hypertension) is high blood pressure that's caused by another medical condition. It can be caused by conditions that affect the kidneys, arteries, heart or endocrine system. Secondary hypertension can also occur during pregnancy. Secondary hypertension differs from the usual type of high blood pressure (primary hypertension or essential hypertension), which is often called simply high blood pressure. Proper treatment of secondary hypertension can often control both the high blood pressure and the condition that causes it. Effective treatment reduces the risk of serious complications — including heart disease, kidney failure and stroke.
  • Porphyria Cutanea Tarda Wikipedia
    In the absence of iron, which is to be incorporated in the porphyrin formed in the last step of the synthesis, the mRNA of erythroid 5-aminolevulinate synthase (ALAS-2) is blocked by attachment of an iron-responsive element (IRE) binding cytosolic protein, and transcription of this key enzyme is inhibited. [26] Low doses of antimalarials can be used. [27] Orally ingested chloroquine is completely absorbed in the gut and is preferentially concentrated in the liver, spleen, and kidneys. [28] They work by removing excess porphyrins from the liver via increasing the excretion rate by forming a coordination complex with the iron center of the porphyrin as well as an intramolecular hydrogen bond between a propionate side chain of the porphyrin and the protonated quinuclidine nitrogen atom of either alkaloid. [29] Due to the presence of the chlorine atom, the entire complex is more water-soluble allowing the kidneys to preferentially remove it from the blood stream and expel it through urination. [28] [30] [31] Chloroquine treatment can induce porphyria attacks within the first couple of months of treatment due to the mass mobilization of porphyrins from the liver into the blood stream. [28] Complete remission can be seen within 6–12 months as each dose of antimalarial can only remove a finite amount of porphyrins and there are generally decades of accumulation to be cleared.
    UROD, HFE, CYP1A2, CPOX, HAMP, IL6, CD6, PTEN, TFRC, UROS, SLC40A1, KL, HPGDS, SLCO6A1, HJV, OR10A4, TNF, BCL2, TFR2, SOAT1, SERPINA1, MMP3, GSTT1, GSTM1, GLS, FECH, EEF1A2, CYP2E1, CYP1A1, GSTK1
    • Porphyria Cutanea Tarda Orphanet
      Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis. Epidemiology The prevalence in western Europe is estimated at about 1/25,000 and men are more affected than women. Clinical description The disease manifests in adulthood. PCT is acquired (75% of cases) or familial (25% of cases). Generally manifestations of the disease appear earlier in familial cases. Some risk factors can precipitate symptoms: excessive consumption of alcohol, hepatitis C, estrogen, and mutations of the genes that control iron metabolism, leading to iron overload (hemochromatosis).
    • Porphyria Cutanea Tarda, Type I Omim
      Description De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007). Clinical Features Among 10 families containing 17 patients with PCT, Roberts et al. (1988) found that 4 were of type I. Each of these 4 families contained at least 2 subjects with overt PCT; all members of these families, including 7 patients with overt PCT, had normal red cell uroporphyrinogen decarboxylase immunoreactive concentrations and enzyme activities.
    • Porphyria Cutanea Tarda Omim
      A number sign (#) is used with this entry because porphyria cutanea tarda type II, or familial PCT, is caused by heterozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD; 613521). Hepatoerythropoietic porphyria (HEP) is caused by homozygous or compound heterozygous mutation in the UROD gene. Description Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980). De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (176090), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT.
    • Porphyria Cutanea Tarda Gard
      Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience " photosensitivity ," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer .
  • Meningococcal Disease Wikipedia
    Since vaccine duration is unknown, mass select vaccinations may be the most cost-effective means for controlling the transmission of the meningococcal disease, rather than mass routine vaccination schedules. [25] [26] Chronic medical conditions [ edit ] Persons with component deficiencies in the final common complement pathway (C3, C5-C9) are more susceptible to N. meningitidis infection than complement-satisfactory persons, [27] [28] [29] [30] [31] [32] [33] and it was estimated that the risk of infection is 7000 times higher in such individuals. [28] In addition, complement component-deficient populations frequently experience frequent meningococcal disease [34] since their immune response to natural infection may be less complete than that of complement non-deficient persons. [27] [35] Inherited properdin deficiency also is related, with an increased risk of contracting meningococcal disease. [27] [35] Persons with functional or anatomic asplenia may not efficiently clear encapsulated Neisseria meningitidis from the bloodstream [27] [35] Persons with other conditions associated with immunosuppression also may be at increased risk of developing meningococcal disease. [36] [37] Antibiotics [ edit ] An updated 2013 Cochrane review investigated the effectiveness of different antibiotics for prophylaxis against meningococcal disease and eradication of N. meningitidis particularly in people at risk of being carriers. ... Essortment. 2002. Archived from the original on 28 July 2007 . Retrieved 29 January 2008 . ^ "Glass Test" .
    CFHR3, CFH, ACE, CFD, ADAM32, FBXO15, CNTNAP5, ZMIZ1, GRM5, PRDM11, OLA1, ALCAM, NUP62, MYO16, TMPRSS15, IL4I1, CES1, SERPINE1, MBL2, TLR4, TNF, IL10, ST11, IL1A, C7, IL1RN, TLR2, IL1B, CD46, FCGR2C, CFP, ABO, SFTPA2, IL4, FCGR2A, FCGR2B, CPB2, DHPS, DEFA4, C5AR2, BPIFA1, TLR9, ENAH, AP2M1, CD14, SERPING1, C11orf40, CEACAM1, CFB, ADRB1, SFTPA1, DEFB1, CXCL10, EGFR, F3, GAPDH, SLC11A1, SFTPD, CXCL11, RELA, CFHR1, PLG, IGHA1, PC, IL1R1, NMB, MIF, ADD1, ALKBH1
  • Dystonia Wikipedia
    A geste antagoniste is a physical gesture or position (such as touching one's chin ) that temporarily interrupts dystonia, it is also known as a sensory trick . [23] Patients may be aware of the presence of a geste antagoniste that provides some relief. [24] Therapy for dystonia can involve prosthetics that passively simulate the stimulation. [25] Physical intervention [ edit ] While research in the area of effectiveness of physical therapy intervention for dystonia remains weak, [26] there is reason to believe that rehabilitation can benefit dystonia patients. [27] Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder. [28] A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting, [29] therapeutic exercise, manual stretching , soft tissue and joint mobilization , postural training and bracing, [27] neuromuscular electrical stimulation , constraint-induced movement therapy , activity and environmental modification, and gait training . [28] A patient with dystonia may have significant challenges in activities of daily living (ADL), an area especially suited for treatment by occupational therapy (OT). ... There is no gold standard for physiotherapy rehabilitation. [30] To date, focal cervical dystonia has received the most research attention; [28] however, study designs are poorly controlled and limited to small sample sizes. [26] Medication [ edit ] Different medications are tried in an effort to find a combination that is effective for a specific person.
    KMT2B, GNAL, THAP1, PRKRA, TOR1A, GLRA1, ALDH5A1, ATCAY, PENK, ATP2B4, LRP2, PANK2, TH, GCH1, SGCE, MCF2L, TUBB4A, ATP1A3, TAF1, DST, CACNA1A, PLA2G6, ND6, HPCA, PRKN, ATXN3, ATXN1, TIMM8A, DRD2, ANO3, BDNF, SLC30A10, LY6E, NIF3L1, ATXN2, ARX, ADCY5, ADAR, ATP13A2, HSPA8, LRRC7, SLC2A1, SLC6A3, COL6A3, ANPEP, TRAF3, TOR1AIP1, CIZ1, PRRT2, NELFE, SCN8A, FA2H, DPEP1, DNAJC12, GCDH, ATXN7, DYT7, ALS2, ABCB6, PDE10A, TBP, TOR1B, BCAP31, COQ8A, WDR45, ARSG, SLC39A14, SUCLA2, ACTB, POLG, HLA-DQB1, ATM, POTEF, TPP1, TOR1AIP2, DRD1, LRRK2, COX20, GRM5, SERAC1, MECP2, PINK1, HIBCH, DYT17, SMUG1, TBC1D24, SLC12A5, COA6, DYT15, KLHL14, FBXO7, TSEN54, KCNT1, PNKD, NDUFAF6, SLC39A8, VAC14, ZNF415, SCNM1, PANK1, CYP2U1, GCNA, SAR1A, C19orf12, APTX, SLC19A3, NUBPL, ATAD3A, ZC4H2, DCAF17, KCTD17, NMS, TFDP1, CAMTA2, GABRA1, HSPA4, HPD, HLA-B, HCFC1, GSN, GPI, GLB1, GDF10, GAD1, GABRG2, GABRB3, EMD, SETX, EEF1A2, ECHS1, DRD5, DNTT, DBT, DBH, CRH, CASP3, CACNA1B, ATP7B, APOE, HSPA5, KCND3, KCNJ6, COX2, ARFGEF2, TUBB3, SCO2, POLR1C, ZFYVE9, SQSTM1, RGS9, ZNF142, HSP90B2P, NKX2-1, ACY1, SLC20A2, SLC18A2, SLC6A8, SCP2, RBBP6, PSEN1, PDHA1, PDE2A, OPRM1, NDUFA9, ND3, ND1, DYT23
    • Dystonia Mayo_clinic
      Overview Dystonia is a movement disorder that causes the muscles to contract involuntarily. This can cause repetitive or twisting movements. The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia), or all parts of your body (general dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of daily tasks. There's no cure for dystonia, but medications and therapy can improve symptoms. Surgery is sometimes used to disable or regulate nerves or certain brain regions in people with severe dystonia.
  • L1 Syndrome Wikipedia
    In X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), this aqueduct is abnormally narrow, leading to accumulation of excess cerebrospinal fluid (CSF) within the brain's ventricular system . [18] X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is the most severe phenotype on the L1 spectrum and is predominantly known for its major feature: profound hydrocephalus, typically beginning before birth. [3] Due to its prenatal onset (i.e. before the bones of the skull have fused together), hydrocephalus associated with HSAS results in progressive macrocephaly (abnormal enlargement of the skull) due to markedly increased intracranial pressure . [19] The signs and symptoms of hydrocephalus can vary depending on severity and age of onset, however irritability (due to pain) and vomiting are common amongst infants with the condition. [19] Without treatment, congenital hydrocephalus can be fatal in infancy. [20] In less severe cases of untreated hydrocephalus, a child may progress beyond infancy but often experiences nausea and vomiting , missed developmental milestones (both physical and cognitive/social), diplopia (double vision), and papilledema (swelling of the optic disc) which can progress to permanent visual impairment due to increased intracranial pressure if definitive treatment is withheld. [20] [21] [22] Neurological damage, caused by both hydrocephalus and poor neuronal development because of defects in the L1 cell adhesion molecule, results in nearly all people with HSAS experiencing severe intellectual disability . [6] People living with HSAS will also frequently experience spasticity , [2] a condition causing some muscles to be continuously contracted, thereby causing stiffness of the body and challenges with walking and speaking. [23] Spasticity is also known to cause difficulty in performing activities of daily living such as bathing and showering, dressing, and self-feeding. [23] [24] [25] Despite HSAS frequently being considered an isolated disorder of the central nervous system , its genetic basis also causes musculoskeletal defects that result in more than half of males with HSAS displaying thumbs that are adducted (clasped, or brought inwards towards the palm). [3] Specifically, this abnormal presentation of the hand is due to congenital malformations in the extensor pollicis brevis and/or extensor pollicis longus muscle of forearm. [26] MASA syndrome [ edit ] MASA syndrome is named after its four principle features: mental retardation, adducted thumbs (clasped, or brought inwards towards the palm), shuffling gait, and aphasia (a language disability affecting the comprehension and production of speech as well as reading and writing abilities. [27] [3] Diagnosis [ edit ] Computed tomography scan showing enlargement of the lateral ventricles due to hydrocephalus , a feature suggestive of possible stenosis (narrowing) of the aqueduct of Sylvius (cerebral aqueduct). [3] A healthcare provider, usually a medical geneticist (a physician with special training in diagnosing and managing genetic disorders ) can provide a clinical diagnosis of L1 syndrome by examining a patient and ordering certain imaging studies, [3] however the presence of L1 syndrome can only be confirmed when a molecular diagnosis has been made through genetic testing . [6] Often, the diagnostic odyssey for a person with L1 syndrome begins prenatally (before they are born) when prenatal ultrasounds reveal non-specific brain abnormalities, ventriculomegaly , or a non-existent or underdeveloped corpus callosum. [6] [2] Fetuses with X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) will typically have hydrocephalus severe enough to be discovered upon routine fetal ultrasound as early as 18–20 weeks gestation. [19] After birth, in the presence of suggestive features (such as macrocephaly ), hydrocephalus can be confirmed with noninvasive imaging including head magnetic resonance imaging , computed tomography , or ultrasound showing ventriculomegaly , or direct measurement of intracranial pressure through invasive techniques such as lumbar puncture . [28] Further, the spasticity found in patients with HSAS can be easily demonstrated by examining the deep tendon reflexes and the extensor plantar reflex (which will both be abnormally brisk and strong due to damage to the cortex and internal capsule of the brain). [29] [3] Amniocentesis being performed to extract amniotic fluid, usually around 4 teaspoons, [30] that can be used as a sample for genetic testing. ... Boergens; Straehle, Jakob; Gour, Anjali; Schmidt, Helene (28 September 2017). "Axonal synapse sorting in medial entorhinal cortex" . ... ISBN 9781284077315 . ^ The National Academies of Sciences, Engineering; Education, Division of Behavioral and Social Sciences and; Medicine, Institute of; Board on Children, Youth; Populations, Board on the Health of Select; Disorders, Committee to Evaluate the Supplemental Security Income Disability Program for Children with Mental; Wu, Joel T.; Boat, Thomas F. (2015-10-28). Clinical Characteristics of Intellectual Disabilities .
    L1CAM, PLP1, PTHLH, PRDX5, PDXP, ENOPH1, CALM1, CALM2, CALM3, CANX, KRIT1, F7, F8, RNF6, CAMKMT, ASRGL1
    • X-Linked Complicated Spastic Paraplegia Type 1 Orphanet
      A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.
    • L1 Syndrome Orphanet
      A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Epidemiology L1 syndrome primarily affects males. HSAS is the most common genetic form of congenital hydrocephalus, with a prevalence of approximately 1/30,000. The prevalence and incidence of the other disorders in the spectrum are not known. Clinical description Presentation is commonly in the antenatal or neonatal period but, depending on the severity of condition, may present later in life with developmental delay and other neurological features such as spasticity.
    • Masa Syndrome Wikipedia
      MASA syndrome Other names Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome This condition is inherited in an X-linked recessive manner. Specialty Neurology MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias [1] a paraplegia known to increase stiffness spasticity in the lower limbs. [2] This syndrome also has two other names, CRASH [3] syndrome and Gareis-Mason syndrome. Contents 1 Signs and symptoms 2 Genetics 3 Previous Cases 4 Diagnosis 5 Treatment 6 References 7 External links Signs and symptoms [ edit ] The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome: (1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait , and (4) adducted thumbs [4] characterized by cleft palate, microcephaly, and dysmyelination. [5] Affected males may also have a variable dilatation (widening) of the third heart ventricle. [4] MASA has five other factors including hydrocephalus . The build-up is often caused by an obstruction that prevents proper fluid drainage. [6] Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement. [7] Aphasia , which is when someone loses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled [8] disturbance in the brain. Lastly, agenesis of the corpus callosum , a rare congenital disorder.
    • Masa Syndrome Orphanet
      A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
    • L1 Syndrome Gard
      L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most severe of all; MASA syndrome (intellectual disability, aphasia (delayed speech), spastic paraplegia (shuffling gait), adducted thumbs); SPG1 (X-linked complicated hereditary spastic paraplegia type 1) X-linked complicated corpus callosum agenesis . It is inherited in an X-linked manner; therefore, it only affects males. It is caused by alterations (mutations) in L1CAM gene. The diagnosis is made in males who have the clinical and neurologic findings and a family history consistent with X-linked inheritance and is confirmed by a genetic test showing the L1CAM gene mutation. The treatment involves doing a surgery for the hydrocephalus.
    • L1 Syndrome Gene_reviews
      Summary Clinical characteristics. L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) MASA ( m ental retardation [intellectual disability], a phasia [delayed speech], s pastic paraplegia [shuffling gait], a dducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1 X-linked complicated corpus callosum agenesis Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family. Diagnosis/testing. The diagnosis of L1 syndrome is established in a male proband with suggestive findings and a hemizygous pathogenic variant in L1CAM identified by molecular genetic testing. The diagnosis of L1 syndrome in a female is unusual but not impossible (most likely in the setting of general delay and/or hydrocephalus) and is established with the identification of a heterozygous pathogenic variant in L1CAM by molecular genetic testing.
    • Masa Syndrome Omim
      A number sign (#) is used with this entry because MASA syndrome, also known as spastic paraplegia-1 (SPG1), is caused by mutation in the gene encoding the L1 cell adhesion molecule (L1CAM; 308840). X-linked aqueductal stenosis or hydrocephalus (HSAS; 307000) is an allelic disorder. Description The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see 182600), and autosomal recessive (see 270800) forms of SPG have been described.
  • Brucellosis Wikipedia
    The disease had troubled the country's farmers and veterinarians for several decades. [28] [29] The Irish government submitted an application to the European Commission , which verified that Ireland had been liberated. [29] Brendan Smith , Ireland's then Minister for Agriculture, Food and the Marine , said the elimination of brucellosis was "a landmark in the history of disease eradication in Ireland". [28] [29] Ireland's Department of Agriculture, Food and the Marine intends to reduce its brucellosis eradication programme now that eradication has been confirmed. [28] [29] UK [ edit ] Mainland Britain has been free of brucellosis since 1979, although there have been episodic re-introductions since. [30] The last outbreak of brucellosis in Great Britain was in cattle in Cornwall in 2004. [30] [31] Northern Ireland was declared officially brucellosis-free in 2015. [30] New Zealand [ edit ] Brucellosis in New Zealand is limited to sheep ( B. ovis ).
    NPC1, PDE4A, MEFV, TNF, IFNG, IL10, IL6, TGFB1, IFNA1, IFNA13, REV1, IL4, IL2, IL15, TLR4, LSAMP, LAMP3, SYNJ2BP, IL12B, CD14, SOD1, IL18, ACTB, IL17A, CTLA4, HAMP, CBLIF, TNFAIP3, TNFRSF1A, TNNI3, VDAC1, BLZF1, CPQ, IL18R1, MIR199A2, KALRN, PDLIM7, AIM2, MFT2, MICA, EBI3, CHDH, MIR199A1, PRDX5, RSL1D1, MIR183, PTPN22, CBLL2, IGKV1-5, NLRP3, MUL1, WNK1, GORASP1, VSIR, TNMD, P3H3, SELL, SYT1, GPT, IL1RN, IL1B, IL1A, IGFALS, HPT, HLA-B, GLA, IRF3, ATN1, CYLD, CRP, COMP, CCR5, CD86, IL13, LCN2, SOAT1, RPL12, SMN2, SMN1, SLN, SLC11A1, SLC3A2, SELE, RPL7, LTA, RELA, RAB5A, PRKN, NOS2, NEDD4, MDH2, IFNG-AS1
    • Brucellosis Orphanet
      Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.
    • Brucellosis Gard
      Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart ( endocarditis ), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen.
    • Brucellosis Mayo_clinic
      Overview Brucellosis is a bacterial infection that spreads from animals to people. Most commonly, people are infected by eating raw or unpasteurized dairy products. Sometimes, the bacteria that cause brucellosis can spread through the air or through direct contact with infected animals. Signs and symptoms of brucellosis may include fever, joint pain and fatigue. The infection can usually be treated with antibiotics. However, treatment takes several weeks to months, and the infection can recur.
  • Primary Effusion Lymphoma Wikipedia
    These cases suggest that, in addition to the presence of rituximab-sensitive CD20-bearing malignant cells, Type II PEL may be a less severe disease than Type I PEL, at lease in certain cases. [13] Treatment and prognosis [ edit ] PEL is generally resistant to cancer chemotherapy drugs that are active against other B-cell lymphomas and therefore carries a poor prognosis. [21] Overall median and 1 year survival rates in a series of 28 patients treated with chemotherapy for PEL were 6.2 months and 39.3%, respectively. ... In this study, patients with advanced Ann Arbor Stage III or IV disease had a particularly poor survival rate at 1 year of 25%; this compared to a rate of 42% for patients with stage I or II disease. [5] Anti-viral drugs directed against Cytomegalovirus (i.e. cidofovir , ganciclovir , and valganciclovir ) have been reported to produce complete presumed temporary responses in individual cases of PEL while drugs directed against HIV in patients with HIV+ PEL have achieved presumed temporary median response and 5 year survival rates of 0.7 months and 28%, respectively. The National Comprehensive Cancer Network (NCCN) guideline recommends treating HIV/AIDS-related PEL with antiviral therapy in combination with aggressive chemotherapy regimens such as DA-EPOCH , cyclophosphamide, doxorubicin, and etoposide , or CHOP. ... "Malignancies in HIV/AIDS: from epidemiology to therapeutic challenges" . AIDS (London, England) . 28 (4): 453–65. doi : 10.1097/QAD.0000000000000071 .
    IL6, MYC, VEGFA, STAT3, IRF4, CTNNB1, HGF, HIF1A, BCL6, IL10, MET, TNFRSF8, TP53, PRKAA1, POU2F2, NFE2L2, PCNA, NTRK1, NOTCH1, PRKAB1, MDM2, MCL1, ICAM1, ADRA2B, ADRA1A, PTGS2, PDLIM7, VKORC1, ACKR3, SPHK2, CRBN, CXCR6, IKZF1, TRIM28, LPAR2, SDC1, CFLAR, USP7, XBP1P1, XBP1, TNF, SSTR4, GPR42, SLC22A2, PRKAA2, EDNRA, BRS3, PRDM1, CDKN2A, FGF2, BCL2, CDKN1B, CDKN3, F10, ATN1, CASP8, MAPK14, BRAF, EBI3, CIB1, LRPPRC, KAT5, TCL1B, ABCG2, GSK3B, BSG, GRAP2, MSC, CALR, SQSTM1, SPHK1, CASP3, IL18R1, TNFRSF10B, FADD, TCL1A, AIMP2, XRCC5, XPO1, AHSA1, CDC42EP1, MALT1, CNTRL, MTCO2P12, INAFM2, MIR711, AIRN, BMS1P20, PWWP3A, SESN2, FAM107B, AKT1, BIRC5, KRT20, WWOX, OPN1SW, OSGIN1, CD274, BBC3, PABPC1, POLDIP2, RNF19A, CORO1C, SMUG1, BRD4, SIRT1, NLRP1, IKZF3, PSIP1, CAT, XK, VDR, CCK, PAX5, DNASE1, NM, NFKB2, NCAM1, EPHA2, COX2, MNDA, EPHA7, EPHB2, LTA4H, LIF, LGALS1, IRF5, IRAK1, IL13, FHIT, IL6ST, IL6R, FKBP4, IL1B, IGF2R, MTOR, HLA-C, FUS, GABPA, PAEP, DHFR, CLIP2, PLXNB1, CCND2, GTF2H4, UCHL1, TYRO3, TRAF6, MS4A1, CD86, THBS1, TGFBR2, PPP1R11, STAT6, CD47, CDK1, SUMO2, SELPLG, CXCL12, CLIP1, PTPRC, MAPK1, PRKCZ, CCR5, CRK, CTSD, POU2AF1, POMC, H3P42
    • Primary Effusion Lymphoma Orphanet
      Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). Epidemiology The prevalence is unknown but it accounts for less than 1% of non-AIDS related lymphomas and approximately 3% of AIDS-related lymphomas. Clinical description PEL is most frequently found in young men that are positive for HIV or have pre-existing AIDS. Very rare non-HIV related cases have been reported but these patients are almost all elderly or immunodeficient due to another cause. Peritoneal, pleural, and pericardial fluid lymphomatous effusions are observed with, in the majority of cases, no mass-like extranodal extension of lymphoma.
  • Intrauterine Growth Restriction Wikipedia
    Archived from the original on 2007-06-09 . Retrieved 2007-11-28 . ^ Hunter, Stephen K.; Kennedy, Colleen M.; Peleg, David (August 1998). ... American Family Physician . 58 (2): 453–60, 466–7. PMID 9713399 . Retrieved 2007-11-28 . ^ Saccone G, Berghella V, Sarno L, Maruotti GM, Cetin I, Greco L, Khashan AS, McCarthy F, Martinelli D, Fortunato F, Martinelli P (Oct 9, 2015).
    ACADVL, IL1RAPL1, STAMBP, CORIN, TBR1, SIX2, CPLX1, PNPLA6, MID2, PUF60, TRAIP, CNKSR2, IQSEC2, SYNE1, OBSL1, FTSJ1, MTO1, POC1A, EMG1, COQ7, ACTB, PHOX2B, NSD2, ZNF711, ZNF41, USP9X, FZD4, TP63, MBTPS1, RECQL4, HUWE1, CRIPT, ARHGEF6, TTC37, CEP57, FRMPD4, CUL7, MED12, SIN3A, AUTS2, FBXL4, VPS13B, PPP1R15B, WDR73, CREB3L1, CCNQ, RAB39B, DNAJC21, PTCHD1, ARX, MRPS16, UBR1, FLCN, TAPT1, STOX1, PTF1A, H19, ZNF81, SLC9A7, CCDC8, ALG13, ALG12, PAM16, GMNN, SBDS, FGFRL1, NSUN2, TMEM70, PPP2R3C, TRMT1, NGLY1, MCTP2, SHROOM4, FAM111A, ZNF335, CXorf56, UPF3B, WHCR, TSHR, TSPAN7, GCK, FANCC, FANCD2, FANCE, ACSL4, FBN1, FLT1, GATA6, GDI1, IGF1, GK, GPC1, GRIN2A, GTF2E2, HADHA, HADHB, HCFC1, FANCA, ERCC6, ERCC2, EIF2S3, AGTR2, ALB, ASCL1, BUB1B, CLCN4, CNTN1, COL1A1, COL1A2, CTBP1, CYB5A, CYB5R3, DLG3, DMD, DNM2, DYRK1A, HSD11B2, IGF2, THRB, SKIV2L, PIK3R1, POR, PTS, NECTIN1, RBBP8, RET, RPS6KA3, SLC12A1, IGHMBP2, SPR, SRP54, ABCC8, SYP, TAF13, TALDO1, TGFB3, PIK3C2A, PDHA1, PAK3, ORC1, INS, INSR, PDX1, IRF6, KCNJ1, KCNJ11, LETM1, LRP5, SMAD4, MECP2, MSX1, MUSK, MYH3, NDP, NPHS1, USP27X
  • Primarily Obsessional Obsessive Compulsive Disorder Wikipedia
    There are numerous corresponding cognitive biases present, including thought-action fusion, over-importance of thoughts, and need for control over thoughts. [27] Treatment [ edit ] The most effective treatment for primarily obsessional OCD appears to be cognitive-behavioral therapy . [28] (more specifically exposure and response prevention (ERP)) as well as cognitive therapy (CT) [28] [29] which may or may not be combined with the use of medication, such as SSRIs . [3] [30] [31] People suffering from OCD without overt compulsions are considered by some researchers more refractory towards ERP compared to other OCD sufferers and therefore ERP can prove less successful than CT. [32] [33] Exposure and Response Prevention for Pure-O is theoretically based on the principles of classical conditioning and extinction.
  • Aortic Aneurysm, Familial Abdominal, 1 Omim
    AAA was the aneurysm diagnosed most commonly among first-degree relatives (86%; 24 of 28). Most aneurysms (85%) occurred among men. ... In the stage 1 analysis of 376 cases and 648 controls, 3 of the 4 TGFBR1 SNPs and 9 of the 28 TGFBR2 SNPs had a p value of less than 0.07.
    MMP9, MMP14, SOD2, DAB2IP, ELN, AGT, AGTR1, ACE2, PTGS2, LOX, COL3A1, NCF1, CCL2, MMP2, ACE, MMP3, SERPINE1, CSF2, TIMP4, SELL, P2RY12, NOS2, EHF, LRP1, TGFBR2, LDLR, TGFBR1, FBN1, IL6R, TGFB3, ERG, MYH11, PCIF1, MYLK, SMAD3, SLC30A8, CDKN2B-AS1, TGFB2, ACTA2, NSMCE2, MAT2A, PRKG1, VPS51, CRP, ANKRD44, MTHFR, FOXE3, MFAP5, SPP1, TIMP1, IL6, PTPN22, TNF, ANGPT2, ANKRD44-IT1, IL10, APOE, IL1B, TIMP2, HIF1A, TIMP3, TNFRSF11B, PLG, IL1A, REN, MAPK8, IL17A, HLA-DRB1, SMUG1, HMOX1, CST3, TGFB1, PPARG, LEP, NOTCH1, VEGFA, LCN2, SIRT1, SORT1, THBD, ACTB, COX2, MMP12, MTCO2P12, MPO, TLR4, MIR145, CASP1, IFNG, PCSK9, AR, CD68, MAPK3, CXCL8, DPP4, ACSS2, DCN, GCG, LGALS3, NOX4, LPA, LRP5, MMP13, IL18, CPB2, MIR15A, CCR5, CDKN2A, PIK3CB, PIK3CD, PIK3CG, SERPINF2, RIPK1, MIR205, BGN, CXCL12, VCAM1, STAT3, TP53, ADAM17, TAGLN, ALOX5, AGER, THBS1, PIK3CA, HMGB1, AIM2, RBM45, CTSK, NOS3, CCN2, SERPINF1, NLRP3, PCYT1A, UQCRFS1, ADIPOQ, SELENOP, VDR, MMP10, IL4, IL1RN, KLF4, TXN, CXCR4, IFNA13, PLA2G15, ICAM1, CCN3, HP, CXCR2, PLA2G7, PGR, MAPK1, SERPINA1, RALBP1, MFAP4, CYSLTR1, FOXO4, PECAM1, PDGFA, PRKAA2, NHS, MPRIP, MMP7, LTBP4, RIPK3, JUN, ITGAX, MOK, MMP8, RENBP, FBLN5, PLAU, IFNA1, VCAN, FGF2, ACCS, MIR155, CTLA4, MIR33A, FCGR3B, FCGR3A, MIR30C2, MIR30A, F10, CAT, MIR29B2, CTSS, MIR29B1, ESR1, BAK1, ELAVL2, ELANE, EGR1, BAX, BCL2, EHMT1, ADM2, MIR21, DHFR, MIR195, CASP5, CYBB, CYP19A1, SMYD2, CSTB, CAD, GLP1R, HLA-A, GZMB, MAPK14, HLA-B, IL23A, DUOX1, PGR-AS1, CETP, FOXP3, ZGLP1, CCR2, HLA-DQA1, HLA-DRB3, APOA1, ACR, CERNA3, DUOX2, CDKN2B, PLA2G10, AAAS, MIR191, SPARCL1, MSC, SLC33A1, KAT2B, MIR183, RECK, IL18R1, MIR146A, MIR141, MIR147A, APLN, MBD4, MBD2, MIR126, MIR15B, KYNU, TNFSF14, TP63, CCL4L1, SERPINA13P, FCN3, ARHGEF2, ZNF148, FGF23, MIR455, TWIST1, HSP90B1, CRISP2, MIR545, TNFAIP6, POTEF, TMSB4X, C20orf181, MIR1260A, AAA1, LUCAT1, LINC00540, RAB4B-EGLN2, TP53COR1, TM7SF2, CXADRP1, TYROBP, NR4A3, UCP2, MIR221, KAT6A, MIR26A1, AIMP2, PXDN, ARMH1, ZBTB16, ZIC3, XBP1, VWF, VTN, VIM, MIR196B, FCMTE2, MIR363, ARSI, PYCARD, HCAR2, MYDGF, STARD7, MCF2L2, WDTC1, MMRN1, PCBP4, CARD8, ADAMTS5, ADAMTS8, CXCL16, GAS5, ZNF335, TSPYL2, SLC28A3, XYLT1, EBNA1BP2, IFIH1, UTS2, RETN, PAG1, PPARGC1A, ADCY10, MCTS1, MCAT, NOX1, POLDIP2, LRP10, RNF19A, TLR3, DDX58, SLC25A37, IL17D, PADI4, KAT6B, GNG2, DYM, IARS2, HEY2, ANGPTL2, ROBO3, HCST, KLHL35, SCO2, EGLN2, EGLN3, NCOR1, CCL4L2, PTGES, GDF15, SETD2, TIRAP, NTN1, GRAP2, TDRD10, OSCP1, FAM3D, PRSS55, ADCY10P1, TRIP13, IL27, NR1I3, HDAC5, HPSE, EBI3, CXCR6, POSTN, FSD1, DHX40, ZC3H12A, COL18A1, FSD1L, KAT8, AHSA1, SPZ1, ATG7, LANCL1, ABCC11, IL33, RABEPK, TRIM13, TSHZ1, ADAMTS1, SERPINA3, TLR2, EP300, EGFR, EFNA5, PHC1, E2F4, DNMT3A, DNMT1, DNASE1, DECR1, DDIT3, CYP2J2, CXADR, CX3CR1, CTSL, CTSH, CTSB, CSF1, CRK, CREBBP, CORT, COL5A2, COL1A2, CNN2, LTB4R, EIF4E, ESR2, TK1, ETS1, HDAC1, GYPE, GYPB, GYPA, GPX4, UTS2R, GAPDH, GABPA, GAA, MTOR, FOSB, FOS, FLT1, FLNA, FOXO1, FCGRT, FCGR2B, FCER1A, FBLN2, PTK2B, FABP4, F3, EZH2, CCR7, CCR6, CMA1, CGA, ARNTL, ARG1, ABCC6, AQP1, FASLG, APRT, APOH, ANXA2, ANGPT1, ALOX5AP, AKT1, AHCY, AGTR2, AEBP1, AP2A1, ADRB2, ADRA2B, PARP1, ADM, ADAM10, ADAM8, ACLY, ABO, ARR3, ARSA, ATM, CD14, CTSC, CD69, CD59, CD44, CD40LG, CD40, CD36, CD28, CD22, CD19, CD8A, AVP, CD1D, RUNX2, CAV1, CASR, CASP8, MYRF, C3, BTK, KLF5, BLVRA, HLA-DOA, HLA-G, HMGCR, SERPINA5, OPN1LW, PLAAT4, PVT1, PTX3, PTPRC, PTH, PTGER4, PTEN, PSMD7, PSMB8, PRTN3, PROC, PRKAR1A, PRKAB1, PRKAA1, PPIA, CTSA, PPARA, ABCA1, PLAT, PIN1, PF4, PEPD, S100A8, CCL4, CCL8, SRD5A1, TFAP2A, PRDX2, TAF1, ABCC8, STK11, STIM1, STAT5B, STAT5A, STAT1, SRY, SPG7, CCL11, SOX9, SOD1, SMARCA4, SLC16A1, SLC5A2, SHBG, SELP, CX3CL1, CCL20, CCL18, PDE3B, CNTN3, HNF4A, SERPINB2, KLK1, JUND, JUNB, ITGB2, ITGAM, ISG20, IL13, IL12B, IL9, CXCR1, IL2RA, IL2, IL1R1, IGKC, ICAM2, IARS1, HSPG2, HSPD1, HSPA5, HES1, HPN, HPGD, SLC29A2, RPSA, LTA4H, LTB, PPP1R12A, PRDX1, OA3, NRAS, NPPB, NOTCH3, NONO, NKTR, NFIB, NFE2L2, NF1, MYO9B, LTC4S, MUC5AC, MTRR, MTHFD1, MNDA, MMP1, NR3C2, MIF, MFAP1, MDK, MCAM, H3P28
    • Abdominal Aortic Aneurysm Wikipedia
      Higher intraluminal pressure in patients with arterial hypertension markedly contributes to the progression of the pathological process. [18] Suitable hemodynamic conditions may be linked to specific intraluminal thrombus (ILT) patterns along the aortic lumen, which in turn may affect AAA's development. [28] Diagnosis [ edit ] An abdominal aortic aneurysm is usually diagnosed by physical exam , abdominal ultrasound , or CT scan . ... S2CID 35797072 . ^ Timothy Jang (2017-08-28). "Bedside Ultrasonography Evaluation of Abdominal Aortic Aneurysm - Technique" . ... "Rupture in small abdominal aortic aneurysms". Journal of Vascular Surgery . 28 (5): 884–8. doi : 10.1016/S0741-5214(98)70065-5 . ... European Journal of Vascular and Endovascular Surgery . 28 (2): 168–76. doi : 10.1016/j.ejvs.2004.03.029 .
    • Aortic Aneurysm, Familial Abdominal, 2 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 (100070). Mapping Shibamura et al. (2004) performed a whole-genome scan of AAA using affected relative-pair (ARP) linkage analysis that included covariates to allow for genetic heterogeneity. They identified a region on chromosome 4 with a lod score of 3.73 (P = 0.0012) near marker D4S1644 (4q31) when including sex and the number of affected first-degree relatives of the proband as covariates.
    • Aortic Aneurysm, Familial Abdominal, 3 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of familial abdominal aortic aneurysm, see AAA1 (100070). Mapping The identification of 2 single-nucleotide polymorphisms (SNPs) on chromosome 9p21 in adjacent linkage disequilibrium blocks associated with type 2 diabetes (rs10811661; see 125853) and coronary artery disease (CAD) (rs10757278; see CHDS8, 611139 and Helgadottir et al., 2007) raised the possibility that a region on 9p21 could predispose to both disorders through a shared biologic mechanism. Helgadottir et al. (2008) investigated this possibility by genotyping these SNPs in Icelandic individuals with 1 of 5 arterial diseases or type 2 diabetes, as well as in several additional case-control sets of European descent with the same phenotypes. They found that, in addition to CAD, the G allele of rs10757278 was associated with abdominal aortic aneurysm (OR = 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (see ANIB6, 611892), but not with type 2 diabetes. The estimated risk conferred by the G allele of rs10757278 for intracranial aneurysm and AAA was very similar across 3 intracranial aneurysm sample sets from Iceland, Finland, and the Netherlands.
    • Abdominal Aortic Aneurysm Mayo_clinic
      Overview An abdominal aortic aneurysm is an enlarged area in the lower part of the body's main artery, called the aorta. The aorta runs from the heart through the center of the chest and belly area, called the abdomen. The aorta is the largest blood vessel in the body. An abdominal aortic aneurysm that ruptures can cause life-threatening bleeding. Treatment depends on the size of the aneurysm and how fast it's growing. Treatment varies from regular health checkups and imaging tests to emergency surgery.
    • Abdominal Aortic Aneurysm Gard
      Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. About 20% of AAAs eventually rupture and are often fatal. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome.
    • Aortic Aneurysm, Familial Abdominal, 4 Omim
      For a phenotypic description and a discussion of genetic heterogeneity of abdominal aortic aneurysm, see AAA1 (100070). Mapping Bown et al. (2011) performed a genomewide association study in 1,866 patients with abdominal aortic aneurysm (AAA) and 5,435 controls, and performed replication analysis of 9 promising signals (p less than 10(-5)) in 2,871 additional AAA cases and 32,687 controls, with further follow-up in 1,491 AAA cases and 11,060 controls. The lead SNP at 1 of the 9 loci, rs1466535, located within intron 1 of the LRP1 gene (107770) on chromosome 12q13.3, demonstrated significant association in the replication sample (p = 0.0042), with confirmation in the follow-up study (p = 0.035). In a combined analysis, rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 x 10(-10); odds ratio, 1.15). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease (see 607339), blood pressure (see 145500), diabetes (see 125853), or hyperlipidemia (see 144250), suggesting that this locus is specific to AAA.
  • Adrenal Hypoplasia, Congenital Omim
    Clinical Variability Tabarin et al. (2000) reported an unusually mild case in a man who presented with apparently isolated adrenal insufficiency at 28 years of age. Examination revealed partial pubertal development (Tanner stage 3) and undiagnosed incomplete HHG. ... Zhang et al. (1998) identified 14 new mutations in 17 families with AHC, bringing the total number of families with AHC studied to 48 and the number of reported mutations to 42; 1 family showed gonadal mosaicism. In a patient who presented at 28 years of age with hypogonadotropic hypogonadism but no clinical evidence of adrenal dysfunction and who was shown to have compensated primary adrenal failure by biochemical testing, Mantovani et al. (2002) identified a missense mutation in the NR0B1 gene (Y380D; 300473.0025), which caused partial loss of function in transient gene expression assays.
    NR0B1, ATP1A3, GK, IFNL3, NR5A1, ANOS1, DMD, GPT, SLC2A1, ATP1A2, CACNA1A, SERPINA4, POMC, ESRRB, IFNG, SLC1A3, PCSK1, PMP22, PROP1, STAR, NHS, NR2F2, NR0B2, SOCS3, IL1RAPL1, USP18, ACD, OTC, LEP, MPZ, MC2R, MAGEB1, AMH, ALDH3A2, IL1RAP, ICAM1, HTC2, AKR1B1, CBLIF, CYP11B1, CYP11A1, CTSB, CHAT, CD63, CXCL10
    • X-Linked Adrenal Hypoplasia Congenita Orphanet
      A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone.
    • Adrenal Hypoplasia, Cytomegalic Type Omim
      Congenital hypoplasia of the adrenal glands occurs as an X-linked disorder (300200) and as an autosomal recessive disorder (240200). The histologic findings are different in the two: the X-linked form is sometimes referred to as the cytomegalic type because of the large cells present as the only remaining cortical tissue. In the autosomal recessive form, there is absence or near absence of both fetal and permanent cortex, resulting in what is sometimes called the 'miniature adult' type because the small adrenal cortex consists almost exclusively of permanent cortex. Kruger et al. (1993) presented the case of a female small-for-dates infant who died at age 7 weeks and was found to have cytomegalic congenital adrenal hypoplasia. The second child of the same parents was also a girl with adrenocortical insufficiency; at the age of 1 year, her adrenal glands could not be identified by computed tomography.
    • X-Linked Adrenal Hypoplasia Congenita Gard
      X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands . These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency , which may be life threatening, and hypogonadotropic hypogonadism . Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene.
  • Visceral Myopathy Omim
    Smout et al. (1985) reported a man who presented with achalasia at age 28 years and urinary retention at age 32, and was discovered to have marked dilatation of the entire small intestine at operation for ureteroileocutaneostomy at age 33. ... The affected individuals included a 29-year-old physiotherapist whose problems began at age 9 with frequent urinary tract infections, her 28-year-old brother, and her 60-year-old father.
    ACTG2
  • Paroxysmal Nocturnal Hemoglobinuria 1 Omim
    The median age of patients at the time of diagnosis was 42 years (range, 16 to 75), and the median survival after diagnosis was 10 years, with 22 patients (28%) surviving for 25 years. Sixty patients had died; 28 of the 48 patients for whom the cause of death was known died from either venous thrombosis or hemorrhage.
    PIGA, CD59, PIGT, CD34, FLNA, GPI, CD55, FCGR3B, CD14, TNF, FCGR3A, IFNG, BST1, HMGA2, CR1, IL10, KIR3DL1, PTPRC, CDR3, GEM, C3, CD48, CD24, HPRT1, RBM45, CFH, HLA-A, CSF2, HP, HLA-DRB1, ARFGEF2, IL6, SELL, KLRC4-KLRK1, FAS, PRTN3, FUT4, RN7SL263P, CSF3, CEACAM8, NEDD4L, KLRK1, SORBS1, CCL2, ERGIC2, TFRC, PGAP1, TFPI, TBCE, CRLS1, THPO, RPS6KA3, RPL6, POLR3E, PRNP, PMS1, PLG, PLAUR, PLAU, THBD, THY1, CAP1, CTC1, PIGF, ECI2, PIGM, EFS, NR1H4, HACD1, ADAMTS13, NOL3, BRD4, UBL4A, CD160, CBLL2, CLYBL, CXCR4, WT1, CCR2, MUL1, ACTB, SERPINB6, DAB1, G6PD, FUT1, FLT3LG, FES, FCGR1A, F2, EPO, EGR1, CELSR3, CFD, CTAA1, GYPA, ATF2, CD52, CD40, CD38, CD36, CD1D, C6, C5, BMPR2, SERPINC1, CBLIF, GYPB, ATP8B1, CXCL10, PRKN, NRAS, NFE2L2, MPO, MME, LNPEP, KIR3DL2, KIR2DS1, JAK2, AKT1, CXCR2, GYPE, IL2, IL1B, RBPJ, IGF1, IFNA13, IFNA1, IDH1, HTC2, HLA-DQA1, HLA-C, ITGB2
    • Paroxysmal Nocturnal Hemoglobinuria Wikipedia
      Paroxysmal nocturnal hemoglobinuria Other names Paroxysmal nocturnal haemoglobinuria, Marchiafava–Micheli syndrome Intravascular hemolytic anemia Specialty Hematology Paroxysmal nocturnal hemoglobinuria ( PNH ) is a rare, acquired, [1] life-threatening disease of the blood characterized by destruction of red blood cells by the complement system , a part of the body's innate immune system . This destructive process occurs due to the presence of defective surface protein DAF on the red blood cell , which normally functions to inhibit such immune reactions. Since the complement cascade attacks the red blood cells within the blood vessels of the circulatory system , the red blood cell destruction (hemolysis) is considered an intravascular hemolytic anemia. Other key features of the disease, such as the high incidence of blood clot formation , are incompletely understood. [2] PNH is the only hemolytic anemia caused by an acquired (rather than inherited) intrinsic defect in the cell membrane (deficiency of glycophosphatidylinositol leading to the absence of protective proteins on the membrane). [3] It may develop on its own ("primary PNH") or in the context of other bone marrow disorders such as aplastic anemia ("secondary PNH"). Only a minority of affected people have the telltale red urine in the morning that originally gave the condition its name. [4] Allogeneic bone marrow transplantation is the only cure, but has significant rates of additional medical problems and death. [5] The monoclonal antibody eculizumab reduces the need for blood transfusions and improves quality of life for those affected by PNH. [5] Eculizumab dramatically alters the natural course of PNH, reducing symptoms and disease complications as well as improving survival to the extent that it may be equivalent to that of the general population. [6] Eculizumab costs at least $440,000 for a single year of treatment and has been reported as one of the world's most expensive drugs. [7] [8] [9] Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 3.1 Classification 4 Screening 5 Treatment 5.1 Acute attacks 5.2 Long-term 5.3 Eculizumab 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] The classic sign of PNH is red discoloration of the urine due to the presence of hemoglobin and hemosiderin from the breakdown of red blood cells . [10] As the urine is more concentrated in the morning, this is when the color is most pronounced.
    • Paroxysmal Nocturnal Hemoglobinuria Orphanet
      Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. Epidemiology Although PNH has been described worldwide, exact prevalence data are not available. It is estimated at 1/80,000 in France. An incidence estimate of about 1/770,000/year has been reported with a predicted prevalence of approximately 1/62,500 in Great Britain. Higher frequency is suggested in Southeast Asia and in the Far East. Men and women are equally affected. Clinical description The disease may occur at any age but it preferentially affects young adults.
    • Paroxysmal Nocturnal Hemoglobinuria Medlineplus
      Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infection; and platelets (thrombocytes), which are involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both sexes equally, and can occur at any age, although it is most often diagnosed in young adulthood. People with paroxysmal nocturnal hemoglobinuria have sudden, recurring episodes of symptoms (paroxysmal symptoms), which may be triggered by stresses on the body, such as infections or physical exertion. During these episodes, red blood cells are prematurely destroyed (hemolysis).
    • Paroxysmal Nocturnal Hemoglobinuria 2 Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to paroxysmal nocturnal hemoglobinuria-2 (PNH2) can be conferred by heterozygous mutation in the PIGT gene (610272) on chromosome 20q13. A somatic mutation in the PIGT gene in addition to the germline mutation appears to be necessary for development of the phenotype. One such patient has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of PNH, see PNH1 (300818). Clinical Features Krawitz et al. (2013) reported a Caucasian woman who was diagnosed with hemolytic anemia with a negative direct antiglobulin test at age 44 years. She experienced frequent hemolytic crises, abdominal pain, diarrhea, headache, arthralgia, dyspnea, and fatigue for several year thereafter.
    • Paroxysmal Nocturnal Hemoglobinuria Gard
      Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis , which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting ( thrombosis ) or hemorrhage, and are at increased risk of developing leukemia .
  • Korsakoff Syndrome Wikipedia
    Empirical research has suggested that good health practices have beneficial effects in Korsakoff syndrome. [26] Epidemiology [ edit ] Rates varies between country, but it is estimated to affect around 12.5% of heavy drinkers. [28] References [ edit ] ^ "Korsakoff Syndrome - MeSH - NCBI" . www.ncbi.nlm.nih.gov . ^ "Korsakoff syndrome" . ... American Journal of Neuroradiology . 28 (4): 759–60. PMID 17416834 . ^ a b c Kopelman, MD; Thomson, AD; Guerrini, I; Marshall, EJ (Mar–Apr 2009).
    ADH1B, ALDH2, DLST, TKT, APOE, JAK2, AKR1A1, SLC19A2
    • Wernicke-Korsakoff Syndrome Omim
      Clinical Features Coy et al. (1996) noted that thiamine deficiency is associated with 2 neurologic disorders, beriberi and Wernicke-Korsakoff syndrome. Beriberi is caused by lack of dietary thiamine and its symptoms include myocardial failure, reversible by thiamine treatment. Wernicke-Korsakoff syndrome is characterized by acute encephalopathy followed by chronic impairment of short-term memory. Early treatment with high doses of thiamine stabilizes the disease, yet thiamine deficiency is not sufficient to cause the syndrome. Biochemical Features Blass and Gibson (1977) found that transketolase (606781) in fibroblasts from patients with Wernicke-Korsakoff syndrome bound thiamine pyrophosphate less avidly than normal.
    • Wernicke-Korsakoff Syndrome Gard
      Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome . The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the "acute" phase and Korsakoff's syndrome represents the "chronic" phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system.
  • Genetics And Abortion Wikipedia
    Between 1983 and 1998, the Victorian Department of Human Services reported that 98 out of 213 fetuses detected to have Turner syndrome had been aborted, 28 out of 77 found to have Klinefelter syndrome , and 39 out of 189 fetuses with sex chromosome anomalies had been aborted. The AISSGA proposed that parents expecting a baby with sex chromosome anomalies be advised by a genetic counselor , and be given contact with support groups for people with these conditions, so as to gain a better understanding of the actual effects of the conditions. [28] See also [ edit ] Eugenics Fetal rights Genetic counselling References [ edit ] ^ a b Lawson, K. (2006).
  • Aspergillosis Wikipedia
    One fifth of the population was infected with the disease and the entire species was considered at risk of extinction. [28] See also [ edit ] Primary cutaneous aspergillosis References [ edit ] ^ "Invasive pulmonary aspergillosis | Aspergillus & Aspergillosis Website" . The Aspergillus Website . Retrieved 28 June 2019 . ^ Denning DW, Pashley C, Hartl D, Wardlaw A, Godet C, Del Giacco S, et al. (15 April 2014).
    CLEC7A, CLEC1A, PTX3, IFNG, CRP, TLR4, IL10, BACE1, TGFB1, TLR1, TLR3, TNF, MBD2, TLR6, NOD1, MBL3P, CD209, CCL3, CCL28, NOD2, TRIM69, TICAM1, IDO2, CCR2, STAT3, BTK, S100B, IL6, CFTR, CSF2, CTSB, CYBB, CYP2C19, DAPK1, FLNC, ICAM3, IL15, CAT, IL17A, IDO1, MBL2, MMP9, MMP14, MPO, PLG, PPBP, AOS
    • Aspergillosis Mayo_clinic
      Overview Aspergillosis is an infection caused by a type of mold (fungus). The illnesses resulting from aspergillosis infection usually affect the respiratory system, but their signs and severity vary greatly. The mold that triggers the illnesses, aspergillus, is everywhere — indoors and outdoors. Most strains of this mold are harmless, but a few can cause serious illnesses when people with weakened immune systems, underlying lung disease or asthma inhale their fungal spores. In some people, the spores trigger an allergic reaction. Other people develop mild to serious lung infections.
    • Aspergillosis, Susceptibility To Omim
      A number sign (#) is used with this entry because of evidence that susceptibility to invasive aspergillosis following hematopoietic stem cell transplantation is influenced by variation in the C-type lectins CLEC7A (606264) and CLEC1A (606782) on chromosome 12p13. Description Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by Cunha et al., 2010).
    • Aspergillosis Gard
      Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain).
    • Aspergillosis Orphanet
      A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
  • Serrated Polyposis Syndrome Wikipedia
    . ^ a b c Guarinos, C; Sánchez-Fortún, C; Rodríguez-Soler, M; Alenda, C; Payá, A; Jover, R (28 May 2012). "Serrated polyposis syndrome: molecular, pathological and clinical aspects" . ... European Journal of Gastroenterology & Hepatology . 25 (1): 28–32. doi : 10.1097/MEG.0b013e3283598506 .
  • Abortion In Alaska Wikipedia
    Wade ruling meant the state could no longer regulate abortion in the first trimester. [28] Clinic history [ edit ] Number of abortion clinics in Alaska by year. ... Kansas State House Abortion Act invokes shaky science for political gain" . Slate Magazine . Retrieved June 28, 2015 . ^ "Misinformed Consent: The Medical Accuracy of State-Developed Abortion Counseling Materials" .
  • Dislocated Shoulder Wikipedia
    In young adults engaged in highly demanding activities shoulder surgery may be considered. [21] Arthroscopic surgery techniques may be used to repair the glenoidal labrum , capsular ligaments , biceps long head anchor or SLAP lesion or to tighten the shoulder capsule. [22] Arthroscopic stabilization surgery has evolved from the Bankart repair , a time-honored surgical treatment for recurrent anterior instability of the shoulder. [23] However, the failure rate following Bankart repair has been shown to increase markedly in people with significant bone loss from the glenoid (socket). [24] In such cases, improved results have been reported with some form of bone augmentation of the glenoid such as the Latarjet operation . [25] [26] [27] Although posterior dislocation is much less common, instability following it is no less challenging and, again, some form of bone augmentation may be required to control instability. [28] Damaged ligaments, including labral tears, occurring as a result of posterior dislocations may be treated arthroscopically. [ citation needed ] There remains those situations characterized by multidirectional instability, which have failed to respond satisfactorily to rehabilitation, falling under the AMBRI classification previously noted. ... "Emergent evaluation of injuries to the shoulder, clavicle, and humerus". Emerg Med Clin North Am . 28 (4): 739–63. doi : 10.1016/j.emc.2010.06.006 .
    • Dislocated Shoulder Mayo_clinic
      Overview A dislocated shoulder is an injury in which the upper arm bone pops out of the cup-shaped socket that's part of the shoulder blade. The shoulder is the body's most flexible joint, which makes it more likely to dislocate. If you suspect a dislocated shoulder, seek prompt medical attention. Most people regain full use of their shoulder within a few weeks. However, once a shoulder dislocates, the joint might be prone to repeat dislocations. Symptoms Dislocated shoulder symptoms can include: A visibly deformed or out-of-place shoulder Swelling or bruising Intense pain Inability to move the joint Shoulder dislocation can also cause numbness, weakness or tingling near the injury, such as in the neck or down the arm.
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