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Intrahepatic Cholestasis Of Pregnancy
Wikipedia
These include preeclampsia , the HELLP syndrome , and acute fatty liver of pregnancy . ... "Bile acid pneumonia: A "new" form of neonatal respiratory distress syndrome?". Pediatrics . 114 (1): 269–272. doi : 10.1542/peds.114.1.269 . ... CS1 maint: multiple names: authors list ( link ) External links [ edit ] https://www.icpsupport.org/abouticp.shtml Classification D ICD - 10 : O26.6 ICD - 9-CM : 646.73 MeSH : C535932 DiseasesDB : 6884 E A Fagan "Intrahepatic cholestasis of pregnancy" v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum PneumoperitoneumABCB4, ATP8B1, ABCB11, ABCC2, NR1H4, TNF, VCAM1, ABCG8, LOC102724197, GGTLC1, GPT, NR1I2, TERC, MMP2, MMP9, F2R, ABCG2, GPBAR1, FGF19, PPARG, ERP29, XPR1, ABCC3, PRDX6, PUM1, NR1I3, ABCB6, TJP2, SLCO1B1, CXCR6, PTGES3, LPAR2, ACTG2, TMED10, PNPLA3, LINC02527, LINC02210-CRHR1, MIR1182, SYCE1L, MIR148A, IL31, TMED10P1, KLB, RBM45, KLHL1, RASSF1, ACKR3, ANGPTL8, WDR11, ISYNA1, FETUB, SLC17A5, POU2F3, FAM215A, CDK5R1, SIRT1, UCN, HDAC3, EDNRA, HPRT1, HLA-DRB1, HLA-DPB1, HLA-C, HLA-B, HLA-A, GPR42, GABRA2, ACE, IL1B, CRHR1, CHI3L1, CD59, BRS3, AVP, APOE, ALB, ADRA2B, IFNG, IL4, PLA2G6, PLA2G2A, YWHAZ, ADRA1A, TPT1, TNNI3, SSTR4, SLCO1A2, SLC10A1, RRAS, PLA2G1B, IL6, PAPPA, OXTR, NPY, NOS2, NFE2L2, KIFC3, IL18, IL17A, H3P17
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Spinal Cord Injury
Wikipedia
Research into potential treatments includes stem cell implantation, engineered materials for tissue support, epidural spinal stimulation , and wearable robotic exoskeletons . [3] Contents 1 Classification 1.1 Complete and incomplete injuries 1.2 Spinal cord injury without radiographic abnormality 1.3 Central cord syndrome 1.4 Anterior cord syndrome 1.5 Brown-Séquard syndrome 1.6 Posterior cord syndrome 1.7 Conus medullaris and cauda equina syndromes 2 Signs and symptoms 2.1 Lumbosacral 2.2 Thoracic 2.3 Cervical 2.4 Complications 3 Causes 4 Prevention 5 Diagnosis 6 Management 6.1 Prehospital treatment 6.2 Early hospital treatment 6.3 Rehabilitation 7 Prognosis 8 Epidemiology 9 History 10 Research directions 11 See also 12 References 13 Bibliography 14 External links Classification [ edit ] The effects of injury depend on the level along the spinal column (left). ... Incomplete injury by definition includes a phenomenon known as sacral sparing: some degree of sensation is preserved in the sacral dermatomes, even though sensation may be more impaired in other, higher dermatomes below the level of the lesion. [20] Sacral sparing has been attributed to the fact that the sacral spinal pathways are not as likely as the other spinal pathways to become compressed after injury due to the lamination of fibers within the spinal cord. [20] Spinal cord injury without radiographic abnormality [ edit ] Spinal cord injury without radiographic abnormality exists when SCI is present but there is no evidence of spinal column injury on radiographs . [21] Spinal column injury is trauma that causes fracture of the bone or instability of the ligaments in the spine ; this can coexist with or cause injury to the spinal cord, but each injury can occur without the other. [22] Abnormalities might show up on magnetic resonance imaging (MRI), but the term was coined before MRI was in common use. [23] Central cord syndrome [ edit ] Incomplete lesions of the spinal cord: Central cord syndrome (top), Anterior cord syndrome (middle), and Brown-Séquard syndrome (bottom). Central cord syndrome , almost always resulting from damage to the cervical spinal cord, is characterized by weakness in the arms with relative sparing of the legs, and spared sensation in regions served by the sacral segments. [24] There is loss of sensation of pain, temperature, light touch, and pressure below the level of injury. [25] The spinal tracts that serve the arms are more affected due to their central location in the spinal cord, while the corticospinal fibers destined for the legs are spared due to their more external location. [25] The most common of the incomplete SCI syndromes, central cord syndrome usually results from neck hyperextension in older people with spinal stenosis . In younger people, it most commonly results from neck flexion. [26] The most common causes are falls and vehicle accidents; however other possible causes include spinal stenosis and impingement on the spinal cord by a tumor or vertebral disk. [27] Anterior cord syndrome [ edit ] Anterior cord syndrome , due to damage to the front portion of the spinal cord or reduction in the blood supply from the anterior spinal artery , can be caused by fractures or dislocations of vertebrae or herniated disks. [25] Below the level of injury, motor function, pain sensation, and temperature sensation are lost, while sense of touch and proprioception (sense of position in space) remain intact. [28] [26] These differences are due to the relative locations of the spinal tracts responsible for each type of function. [25] Brown-Séquard syndrome [ edit ] Brown-Séquard syndrome occurs when the spinal cord is injured on one side much more than the other. [29] It is rare for the spinal cord to be truly hemisected (severed on one side), but partial lesions due to penetrating wounds (such as gunshot or knife wounds) or fractured vertebrae or tumors are common. [30] On the ipsilateral side of the injury (same side), the body loses motor function, proprioception , and senses of vibration and touch. [29] On the contralateral (opposite side) of the injury, there is a loss of pain and temperature sensations. [27] [29] Posterior cord syndrome [ edit ] Posterior cord syndrome , in which just the dorsal columns of the spinal cord are affected, is usually seen in cases of chronic myelopathy but can also occur with infarction of the posterior spinal artery . [31] This rare syndrome causes the loss of proprioception and sense of vibration below the level of injury [26] while motor function and sensation of pain, temperature, and touch remain intact. [32] Usually posterior cord injuries result from insults like disease or vitamin deficiency rather than trauma. [33] Tabes dorsalis , due to injury to the posterior part of the spinal cord caused by syphilis, results in loss of touch and proprioceptive sensation. [34] Conus medullaris and cauda equina syndromes [ edit ] Conus medullaris syndrome is an injury to the end of the spinal cord, located at about the T12–L2 vertebrae in adults. [29] This region contains the S4–S5 spinal segments, responsible for bowel, bladder, and some sexual functions , so these can be disrupted in this type of injury. [29] In addition, sensation and the Achilles reflex can be disrupted. [29] Causes include tumors , physical trauma, and ischemia . [35] Cauda equina syndrome (CES) results from a lesion below the level at which the spinal cord splits into the cauda equina , [33] at levels L2–S5 below the conus medullaris. [36] Thus it is not a true spinal cord syndrome since it is nerve roots that are damaged and not the cord itself; however, it is common for several of these nerves to be damaged at the same time due to their proximity. [35] CES can occur by itself or alongside conus medullaris syndrome. [36] It can cause low back pain, weakness or paralysis in the lower limbs, loss of sensation, bowel and bladder dysfunction, and loss of reflexes. [36] Unlike in conus medullaris syndrome, symptoms often occur on only one side of the body. [35] The cause is often compression, e.g. by a ruptured intervertebral disk or tumor. [35] Since the nerves damaged in CES are actually peripheral nerves because they have already branched off from the spinal cord, the injury has better prognosis for recovery of function: the peripheral nervous system has a greater capacity for healing than the central nervous system . [36] Signs and symptoms [ edit ] Actions of the spinal nerves Level Motor Function C1 – C6 Neck flexors C1 – T1 Neck extensors C3 , C4 , C5 Supply diaphragm (mostly C4 ) C5 , C6 Move shoulder , raise arm ( deltoid ); flex elbow ( biceps ) C6 externally rotate ( supinate ) the arm C6 , C7 Extend elbow and wrist ( triceps and wrist extensors ); pronate wrist C7 , T1 Flex wrist; supply small muscles of the hand T1 – T6 Intercostals and trunk above the waist T7 – L1 Abdominal muscles L1 – L4 Flex thigh L2 , L3 , L4 Adduct thigh; Extend leg at the knee ( quadriceps femoris ) L4 , L5 , S1 abduct thigh; Flex leg at the knee ( hamstrings ); Dorsiflex foot ( tibialis anterior ); Extend toes L5 , S1 , S2 Extend leg at the hip ( gluteus maximus ); Plantar flex foot and flex toes Further information: Dermatome (anatomy) Signs (observed by a clinician) and symptoms (experienced by a patient) vary depending on where the spine is injured and the extent of the injury. ... A person with a mild, incomplete injury at the T5 vertebra will have a much better chance of using his or her legs than a person with a severe, complete injury at exactly the same place. Of the incomplete SCI syndromes, Brown-Séquard and central cord syndromes have the best prognosis for recovery and anterior cord syndrome has the worst. [28] People with nontraumatic causes of SCI have been found to be less likely to suffer complete injuries and some complications such as pressure sores and deep vein thrombosis, and to have shorter hospital stays. [11] Their scores on functional tests were better than those of people with traumatic SCI upon hospital admission, but when they were tested upon discharge, those with traumatic SCI had improved such that both groups' results were the same. [11] In addition to the completeness and level of the injury, age and concurrent health problems affect the extent to which a person with SCI will be able to live independently and to walk. [8] However, in general people with injuries to L3 or below will likely be able to walk functionally, T10 and below to walk around the house with bracing, and C7 and below to live independently. [8] New therapies are beginning to provide hope for better outcomes in patients with SCI, but most are in the experimental/translational stage. [3] One important predictor of motor recovery in an area is presence of sensation there, particularly pain perception. [36] Most motor recovery occurs in the first year post-injury, but modest improvements can continue for years; sensory recovery is more limited. [123] Recovery is typically quickest during the first six months. [124] Spinal shock , in which reflexes are suppressed, occurs immediately after the injury and resolves largely within three months but continues resolving gradually for another 15. [125] Sexual dysfunction after spinal injury is common.
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Multicystic Dysplastic Kidney
Wikipedia
Those with bilateral disease often have other severe deformities or polysystemic malformation syndromes. [6] In bilateral cases, the newborn has the classic characteristic of Potter's syndrome . [7] [8] The bilateral condition is incompatible with survival, as the contralateral system frequently is abnormal as well. ... Renal dysplasia can be a consequence of a genetic syndrome , which in turn may affect the digestive tract, nervous system, or other areas of the urinary tract . ... Some mutations in genes associated with renal dysplasia (in syndromes) have been determined. The mutations in question occur at EYA1 or SIX1 genes (branchio-oto-renal syndrome). ... ISBN 978-3-642-62803-0 . ^ Potter Syndrome~treatment at eMedicine ^ Lager, Donna J.; Abrahams, Neil (2012-11-07). ... External links [ edit ] Classification D ICD - 10 : Q61.4 ( EUROCAT Q61.40-Q61.41) MeSH : D021782 External resources eMedicine : radio/458 Orphanet : 1851 Scholia has a topic profile for Multicystic dysplastic kidney . v t e Congenital malformations and deformations of urinary system Abdominal Kidney Renal agenesis / Potter sequence , Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Supernumerary kidney Pelvic kidney Dent's disease Alport syndrome Ureter Ectopic ureter Megaureter Duplicated ureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Hypospadias Posterior urethral valves Penoscrotal transposition Vestigial Urachus Urachal cyst Urachal fistula Urachal sinus v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal OutlineHNF1B, PAX2, LHX1, TBX18, IFT172, BBS7, SETD5, CEP55, MKS1, LZTFL1, MBTPS2, TMEM216, WDPCP, BBS9, B9D1, NPHP3, NIPBL, MCTP2, LMOD1, KIF4A, PIGN, KAT6B, GRIP1, RPGRIP1L, TRIM32, IFT27, SDCCAG8, CD96, HDAC4, CEP57, PEX16, PEX26, HDAC8, BUB3, ARL6, RSPO2, KANSL1, BBS12, C8orf37, ARL6IP6, SIX5, B3GLCT, BBS5, TTC8, BBIP1, TMEM67, TMEM107, B9D2, INPP5E, CEP290, FRAS1, GREB1L, TCTN2, CSPP1, BBS10, TMEM231, PORCN, NXN, PIEZO2, CC2D2A, RPGRIP1, TRIP13, FREM2, SMC3, PEX12, PEX6, ACTG2, ROR2, NPHP1, MYLK, MYH11, KMT2A, HOXD13, HNF4A, GPC3, GATA3, FLI1, GPC4, EYA1, DHCR7, CPT2, CHRM3, BUB1B, BUB1, BBS4, BBS2, BBS1, ARL3, PEX10, PEX1, PEX13, SNRPB, PEX11B, PEX3, OFD1, SMC1A, MKKS, FZD3, WNT3, VHL, PEX14, TFAP2A, SIX1, RAD21, SALL1, PKD1, PKD2, PEX19, PEX2, PEX5, AGTR2, BCL2, CDC5L, TAZ, MIP, REN, CYP4A11, ACE, USF2, HNF1A, ACTB
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Asystole
Wikipedia
External links [ edit ] Classification D ICD - 10 : I46.0 ICD - 9-CM : 427.5 Wikimedia Commons has media related to Asystole . v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic feverTNF, KCNH2, TRPM4, SLC4A3, IFNG, INS, ITPR1, CCL5, IL18, ABCC8, DYNLL1, TRDN, SCN5A, CALM1, CALM2, CACNA1C, TGFBR2, KCND3, PKP2, HCN4, ABCC9, AKAP9, KCNE3, DSP, SLC2A10, ENO2, MYBPC3, SCN3B, GBA, SLC19A2, TANGO2, HBB, NDUFB11, ATXN3, LY6E, GPD1L, LIPA, HMGCL, KCNE5, KCNJ8, RANGRF, KCNJ5, POR, PLN, SLMAP, TBP, CEP85L, TSPYL1, SCN10A, SCN2B, SCN1B, CACNA2D1, CACNB2, ATXN2, CACNA1A, ATXN1, TGFBR1, CASP3, ATXN7, BCL11A, ATXN8OS, TP53, TWNK, IL6, MYB, HBG2, SPTBN2, UGT1A1, TPO, FXN, CXCL8, ATN1, KCNQ1, EDN1, HBA1, IL1B, HBA2, CDKN2A, FGF14, PDYN, MTHFR, ACE, GFAP, G6PD, PLAT, EMSLR, ALB, PLEKHG4, LCN2, PLA2G15, ATXN10, HBG1, ELOVL4, VEGFA, AKT1, S100B, MIR122, CACNA1G, SCD, NEFL, ACCS, PPP2R2B, PRKCG, ACSS2, GABPA, NOS1AP, SLITRK1, NFE2L2, C9orf72, KCNJ2, GDF15, KCNC3, TLR4, ITPR3, REN, RNU1-4, TNNI3, POMC, STUB1, PPP1R15A, PGF, NOP56, CCL2, MBL2, SOD1, NHS, MPO, COX1, UGT1A, PTGS2, THBS1, BDNF, GRK2, F2R, HMGB1, NLRP3, ANGPT1, ERBB2, APOE, GSTM1, ELOVL5, IGFALS, RN7SL263P, CSF2, HCRT, H3P10, GPC5, PLB1, DDX53, TTBK2, OR2AG1, PRSS55, TNFSF14, TNFRSF6B, ARHGEF7, C20orf194, SLCO6A1, SLC7A7, RBM45, IL27, TBX19, GRAP2, AZIN2, RAPGEF5, MTSS1, ZEB2, KRT90P, MVP, OSCAR, GADL1, BTBD8, MIR574, H3P23, LINC02605, TM7SF2, MTCO2P12, TMSB4X, SCA37, CBSL, TMED7-TICAM2, CRISP2, C20orf181, MIR648, TTR, VSX2, UGCG, MIR21, MIR155, VHL, YWHAZ, LINC01550, GSTK1, AIMP2, TICAM2, CDC7, TGM6, UBASH3B, AGBL2, SPZ1, IL17D, AFG3L2, LUC7L3, MGLL, FAN1, WWOX, NLK, PLA2R1, PRKAG2, ANGPTL4, MLC1, PHLPP1, TMED7, ASCC1, NOX4, DUOX2, SGSM3, ANGPTL3, HPGDS, IL37, PPA2, RNU1-1, HAVCR1, TIMP3, PART1, SS18L1, MTMR11, CYP46A1, TNFSF15, DUOX1, LPCAT1, RNF19A, CPLANE1, RHBDF1, DNM1L, AKR1B10, CEBPZ, RETN, SIGMAR1, MYDGF, ERBIN, SEMA3A, ZNRD2, UGT1A4, AHSA1, UGT1A6, SLCO1B1, KLF1, UGT1A7, DCTN6, MASP2, UGT1A8, UGT1A10, HBS1L, HPSE, POLDIP2, ASIC1, TFRC, ESR1, GAD2, MTOR, FPR1, FGF2, FBN1, F5, ETFA, EPHB4, CRP, ELANE, EIF4EBP1, EGFR, EBM, DAB1, CSTB, CSF3, GAPDH, GCLC, GSR, GSTM2, HTR1E, HSPA5, HSD11B2, HMOX1, HLA-DRB1, HLA-DQB1, HLA-C, HLA-B, HLA-A, HK2, HIF1A, HDAC2, SERPIND1, GSTT1, GSTP1, MAPK14, CRK, IFI27, ANG, AR, AQP4, ANXA6, ANXA1, SLC25A6, SLC25A4, ANGPT2, AMBP, CDKN1A, ALOX15, AIF1, ADRB2, ADH5, ADCY6, ACTB, ACLY, ARSA, ATP1A3, ATR, AVPR1B, CD40LG, CD40, TNFRSF8, CD28, CBS, CAT, CASQ2, CAPS, CAPN1, CALR, CALM3, CALCR, BCL2, BAX, AVPR2, ICAM1, IFRD1, TEK, PSMD9, RPS6KB1, ROS1, RNU2-1, RAN, PVR, ACHE, PTGS1, MAPK3, PIK3CB, MAPK1, PTPA, POLG, PMS2, PMCH, PLA2G1B, PIK3CG, RYR2, S100A1, SCN2A, SCT, SYP, SYN1, STAT3, SSTR5, SSTR4, SSTR1, SST, SMN1, SLCO1A2, SLC6A8, SEMA3F, SELP, SELE, SDC1, CCL3, PIK3CD, PIK3CA, IGF1, ITGA2B, LGALS3, LBR, LAMC2, KRAS, KCNE1, KCND2, ITGB1, INSRR, PGR, IL17A, IL13, IL11, IL10, IL7, IL4R, IL2, LMNA, LTC4S, MEFV, MIPEP, PDE4A, PAX5, PAPPA, OAT, NT5E, NOS2, NFKB1, NEUROD1, NCAM1, MYCN, MUC1, COX2, MSD, MMP9, MME, H3P40
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Left Atrial Enlargement
Wikipedia
Archived from the original on 2009-03-28. v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Aphakia
Wikipedia
Retrieved April 13, 2016 from http://medical-dictionary.thefreedictionary.com/aphakia External links [ edit ] Classification D ICD - 10 : H27.0 , Q12.3 ICD - 9-CM : 379.31 , 743.35 OMIM : 610256 MeSH : D001035 DiseasesDB : 29608 v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis v t e Congenital malformations and deformations of eyes Adnexa Eyelid Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia ( Cystic eyeball , Cryptophthalmos ) Microphthalmia Lens Ectopia lentis Aphakia Iris Aniridia Anterior segment Axenfeld–Rieger syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma ( Coloboma of optic nerve ) Hydrophthalmos Norrie disease
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Renal Cortical Necrosis
Wikipedia
The condition is "usually caused by significantly diminished arterial perfusion of the kidneys due to spasms of the feeding arteries, microvascular injury, or disseminated intravascular coagulation " and is the pathological progression of acute tubular necrosis . [1] It is frequently associated with obstetric catastrophes such as abruptio placentae and septic shock , and is three times more common in developing nations versus industrialized nations (2% versus 6% in causes of acute kidney failure ). [ citation needed ] Contents 1 Causes 1.1 Adults 1.2 Babies 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Prognosis 6 References 7 External links Causes [ edit ] Adults [ edit ] Pregnancy related (>50% of cases) Placental abruption Infected abortion Prolonged intrauterine fetal death Severe eclampsia HIV [2] Snake bites [3] Binge drinking [4] Shock Trauma Sickle cell disease [5] Systemic lupus erythematosus (SLE) [6] Sepsis [7] SLE-associated antiphospholipid syndrome [8] Vitamin deficiency [9] Pancreatitis [10] Malaria [11] Meningococcemia [12] Drug-induced toxicity (e.g. ... "Bilateral Acute Renal Cortical Necrosis in SLE-Associated Antiphospholipid Syndrome". American Journal of Kidney Diseases . 57 (6): 945–947. doi : 10.1053/j.ajkd.2011.02.381 . ... PMID 18343736 . ^ Sastre López, A.; Gago González, E.; Baños Gallardo, M.; Gómez-Huertas, E.; Ortega Suárez, F. (2007). "All-trans retinoic acid syndrome corrected and renal cortical necrosis" . ... External links [ edit ] Classification D ICD - 10 : N17.1 ICD - 9-CM : 583.6 MeSH : D007673 SNOMED CT : 444691002 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
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Exposure Keratopathy
Wikipedia
See also [ edit ] Keratitis Dry eye syndrome Lagophthalmos Reference [ edit ] ^ Zasloff, Michael (1 October 2012). ... American Academy of Ophthalmology . 1 April 2008. v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
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Mydriasis
Wikipedia
Purposefully-induced mydriasis via mydriatics is also used as a diagnostic test for Horner's syndrome . Mydriasis can be induced via modulation of adrenergic or cholinergic signalling. ... PMID 27695298 . ^ "Cyclomydril - FDA prescribing information, side effects and uses" . ^ "Common eye diseases and their management", Galloway/Amoako/Browning, Springer science 2006, 3rd edition, p196 External links [ edit ] Classification D ICD - 10 : H57.0 ICD - 9-CM : 379.43 OMIM : 159420 159410 106240 MeSH : D015878 DiseasesDB : 8603 v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
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Topical Steroid Withdrawal
Wikipedia
Topical steroid withdrawal Other names Topical steroid addiction, steroid dermatitis, red burning skin syndrome, red skin syndrome, iatrogenic exfoliative dermatitis (idiopathic erythroderma) [1] Red burning skin syndrome from topical steroids. ... This cycle is known as steroid addiction syndrome. [8] When topical steroid medication is stopped, the skin experiences redness, burning, itching, hot skin, swelling, and/or oozing for a length of time. This is also called 'red skin syndrome' or 'topical steroid withdrawal' (TSW). ... In addition, the erythema characteristic of ‘‘red skin syndrome’’ is due to a release of stored endothelial nitric oxide (NO) and subsequent vasodilation of dermal vessels. [1] Diagnosis [ edit ] Diagnosis is based on a rash occurring within weeks of stopping long term topical steroids. [2] Headlight sign - redness of the lower part of the face but not the nose and around the mouth. ... External links [ edit ] Classification D v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji
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Fumarase Deficiency
Wikipedia
You can help by adding to it . ( July 2017 ) Treatment [ edit ] There is a deficiency of malate in patients because fumarase enzyme can't convert fumarate into it therefore treatment is with oral malic acid which will allow the Krebs cycle to continue, and eventually make ATP. [ citation needed ] Epidemiology [ edit ] Fumarase deficiency is extremely rare - until around 1990 there had only been 13 diagnosed and identified cases worldwide. [ citation needed ] A cluster of 20 cases has since been documented in the twin towns of Colorado City, Arizona and Hildale, Utah among an inbred community of 10,000 members of the Fundamentalist Church of Jesus Christ of Latter Day Saints . [11] [12] [13] [14] Nicknamed "Polygamist's Down's", the syndrome has been blamed on cousin marriage , but in a larger sense is related to the reproductive isolation of a community among whom 85% are blood relatives of John Y. ... "The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency" . ... External links [ edit ] Classification D ICD - 10 : E88.8 OMIM : 606812 MeSH : C538191 C538191, C538191 DiseasesDB : 29835 SNOMED CT : 237983002 External resources Orphanet : 24 v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria v t e Disorders of citric acid cycle and electron transport chain Citric acid cycle Pyruvate dehydrogenase deficiency Fumarase deficiency Electron transport chain Coenzyme Q10 deficiency Björnstad syndrome GRACILE syndrome Leigh's disease
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Ventricular Aneurysm
Wikipedia
External links [ edit ] Classification D ICD - 10 : I25.3 ICD - 9-CM : 414.1 MeSH : D006322 v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
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Myopathy
Wikipedia
"Neuromuscular involvement in various types of Ehlers-Danlos syndrome". Ann. Neurol . 65 (6): 687–97. doi : 10.1002/ana.21643 . ... External links [ edit ] GeneReviews/NCBI/NIH/UW entry on Myopathy with Deficiency of ISCU See http://neuromuscular.wustl.edu/ for medical descriptions. v t e Diseases of muscle , neuromuscular junction , and neuromuscular disease Neuromuscular- junction disease autoimmune Myasthenia gravis Lambert–Eaton myasthenic syndrome Neuromyotonia Myopathy Muscular dystrophy ( DAPC ) AD Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal (most) AR Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker–Warburg XR dystrophin Becker's Duchenne Emery–Dreifuss Other structural collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy Channelopathy Myotonia Myotonia congenita Thomsen disease Neuromyotonia / Isaacs syndrome Paramyotonia congenita Periodic paralysis Hypokalemic Thyrotoxic Hyperkalemic Other Central core disease Mitochondrial myopathy MELAS MERRF KSS PEO General Inflammatory myopathy Congenital myopathy v t e Systemic connective tissue disorders General Systemic lupus erythematosus Drug-induced SLE Libman–Sacks endocarditis Inflammatory myopathy Myositis Dermatopolymyositis Dermatomyositis / Juvenile dermatomyositis Polymyositis * Inclusion body myositis Scleroderma Systemic scleroderma Progressive systemic sclerosis CREST syndrome Overlap syndrome / Mixed connective tissue disease Other hypersensitivity / autoimmune Sjögren syndrome Other Behçet's disease Polymyalgia rheumatica Eosinophilic fasciitis Eosinophilia–myalgia syndrome fibrillin Marfan syndrome Congenital contractural arachnodactyly v t e Symptoms and conditions relating to muscle Pain Myalgia Fibromyalgia Acute Delayed onset Inflammation Myositis Pyomyositis Destruction Muscle weakness Rhabdomyolysis Muscle atrophy / Amyotrophy Other Myositis ossificans Fibrodysplasia ossificans progressiva Compartment syndrome Anterior Diastasis of muscle Diastasis recti Muscle spasmSLCO1B1, TTN, CPT2, PYGM, GFPT1, PYROXD1, RNR1, RAPSN, MEGF10, HMGCR, COL4A1, IL1B, MICU1, MAOA, AMPD1, SMAD4, TGFB1, TNNI2, CRPPA, CSF3, PPARA, HINT1, INS, CTSB, HTR7, ALB, ARG1, XDH, HTR3B, EIF2AK4, FABP3, LMNA, PNPLA2, BAG3, GNE, COL6A1, DNM2, DMD, ISCU, FLNC, CRYAB, FHL1, DES, SELENON, MYH7, RYR1, ACTA1, PRKCD, TK2, NEB, ANO5, DYSF, VCP, MYH2, MTM1, MYOT, STIM1, CLCN1, TPM2, COL6A2, ORAI1, TPM3, COX2, CAPN3, CASQ1, FKRP, MYH6, GAA, TNNT1, PABPN1, COL6A3, COL12A1, SIL1, VMA21, MYBPC1, TAZ, TRIM32, DNA2, ABHD5, CYTB, PGK1, EMD, CSRP3, HSPB8, TNNI3, SCN4A, CAVIN1, ADSS1, SLC25A4, TCAP, MYBPC3, FKBP14, MYO18B, GFER, POLG, HNRNPA2B1, TRAPPC11, HNRNPA1, CFL2, TRNK, COX1, COX3, YARS2, ACADVL, CAP2, NARS2, ACTC1, TRNE, PRKAG2, LDB3, B4GALT1, TRNT, ACADS, HADHB, CCDC174, TRNL1, FKTN, OPA1, TPM1, PGAM2, HNRNPDL, ACTN2, AGL, C1QBP, MYPN, SLC22A5, ITGA7, PLEC, ATP6, DPAGT1, TRNI, ALG2, LARGE1, TRNH, TRNF, PSEN1, BAZ1B, EPG5, NEXN, ND6, ND5, TAF1A, ND4L, ND4, ND2, ND1, TTN-AS1, RERE, MGME1, TRNC, USP8, PDE8B, AP1S2, MYMK, NEFH, CLIP2, TBCE, RBM20, VCL, PPARG, UBA1, ALPL, NDUFB3, TPI1, TNNT2, KBTBD13, SLC25A3, CISD2, TNNC1, PLN, NDUFS2, PRKACA, VAMP1, KCNAB2, TRNP, TRNQ, TRNS1, TRNS2, TRNV, TRNW, NDUFA11, CNTNAP1, WFS1, ACTB, COLQ, EVC2, B3GALNT2, ALG14, PRKAR1A, XK, LMNB2, LAMA2, PSEN2, PPCS, DPM3, INPP5K, NDUFAF1, FHL2, CLTA, PDE11A, SGCB, CHRNE, FOS, RRM2B, POMT2, GMPPB, NDUFAF4, SGCD, ANKRD1, CHRND, GABRD, RMND1, ACACA, GTF2IRD1, CDCP1, ERGIC1, ADGRG6, GATAD1, SDHA, PRDM16, SDHD, CDH23, ACADM, DYNC1H1, IRF2BPL, LMOD3, AGK, TRMU, DSG2, POMGNT1, SFTPC, ELN, TBL2, BSCL2, RFC2, ABCC9, FLAD1, NEBL, SKI, PUS1, PPP1R14C, KLHL41, CAV3, DNM1L, HSPG2, MYHAS, LAMA4, LAMB2, PTEN, CAV1, LIMK1, ZNF536, AGPAT2, POMT1, CHKB, TXNRD2, CHRNB1, PANK2, ZBTB20, GK, GCLC, GTF2I, RET, HADHA, TMPO, ASTN2, VPS13A, SCN5A, CENPF, DOLK, RAF1, NUBPL, TARDBP, PSMD2, SI, DAG1, CFDP1, EIF4G2, GEMIN4, DNAJB6, MGAM, CYP3A4, DUX4, MATR3, MSTN, LAMP2, RBCK1, SGCA, GATM, DMPK, BEST1, SQSTM1, GYG1, COQ2, ABCB1, PRNP, APP, SMN1, CHCHD10, FST, SOD1, PRPF6, TRIM63, GDF15, KLHL40, MSTO1, STAC3, TWNK, PCSK9, UTRN, SMN2, MTCO2P12, MMP9, GFAP, COL4A2, BCL2, AR, HLA-DRB1, HLA-C, PIK3C2A, BIN1, AMPH, ETFDH, NOS1, HTC2, FSHMD1A, NOTCH3, VDR, FGF21, CHD7, ATP2A1, PDLIM5, MYL2, UCN2, MYH3, LTBP4, G6PC, HSPB1, SLC7A10, PAX7, IGF1, IGFALS, SNURF, DDIT3, AIFM1, MMP2, TRIP4, ADIPOQ, STMN1, ZASP, MB, LPL, SECISBP2, APOE, MTMR14, H19, SNRPN, ACTN3, GYS1, TFAM, OBSL1, FXN, SYNE1, SYNM, DOK7, RPL3, PTGS2, BICD2, TNPO3, TRIM72, FRG1, BRD2, THBS1, ACE, GATAD2B, AARS2, ASCC1, DDX5, DCN, CD274, FLNA, FLNB, SPTBN4, CHMP1B, CYP3A5, PIK3R4, CYP2E1, LMCD1, CYP2D6, CYP2B6, IFIH1, CSF1R, TRIM54, DPP4, DGUOK, DNAH8, RTEL1, FBN2, PRKAG3, FBN1, TMEM70, FAT1, PTRH2, COX4I1, ESR2, PACC1, KIF21A, DTNA, DPYS, ATF7IP, DPYD, FDXR, FECH, TMEM126B, GLRX5, CDK5RAP1, FGF2, FOXO1, FOXO3, MTOR, XCL1, COL9A3, SLC25A5, EYS, KY, SLCO1B7, LAMA1, ANG, ANGPT1, SENP5, GSTK1, ANXA5, ANXA6, IBA57, AOC2, AIRE, CD109, CAVIN4, FAM111B, BIRC2, ADCY5, LINC-ROR, SLX1A-SULT1A3, ACHE, ACTN1, ADARB1, SFTPA1, SULT1A4, AKR1B1, AGER, MIR34A, MIR206, MIR146A, MIR127, AKT1, SLCO6A1, RBM45, COL9A2, CDSN, OBSCN, CD38, COLEC12, SETD7, CD59, CD69, ACAD9, RUNX2, CHRNA4, CLN3, MYH14, CNTN1, FYCO1, TMEM43, GFM2, CAT, CCDC78, MYL12B, PHOX2A, FBXO32, PKD1L2, NLRP3, CHST14, FDX2, MRRF, CAPN2, ATP7A, BRCA1, CACNA1S, PERM1, COX4I2, CALD1, KLF15, HIF1A, HPGDS, NUP98, NFKB2, VTN, VDAC1, NOS2, ROR1, SUMO1, UBB, MYOG, TTR, PAK1, TRPC6, PAK2, PCBP1, PDCD1, NCAM1, MYOD1, TRNM, IKBKG, TRNN, DGAT1, EIF3A, AOC3, MUSK, MYBPC2, MYD88, MYO6, MYF6, CUL3, NR0B2, MYH8, FXR1, KMT2D, TNXB, PFKM, PGM1, PTPN6, SPARC, SOX9, PTBP1, PTH, SMARCA4, SLN, QDPR, PHKA1, SGCG, RPL5, RPL30, RPS19, SET, RYR2, SPP1, SPTAN1, SPTB, ST14, STAT3, PRKCZ, SULT1A3, PRKCH, PRKCA, PRH2, PRH1, KLF10, POLA1, TM7SF2, PLOD1, TNFRSF1B, PITX2, MTMR2, MST1, NFU1, BVES, SAMD4A, HRAS, AGFG1, POLG2, DDX20, DNAJB2, CLP1, WASHC4, APOBEC2, POLD3, CELF1, KHDRBS1, MYL12A, HSPA4, LPIN1, SMCHD1, HSPB3, SUN2, G6PD, GBE1, GCH1, CNNM1, GH1, PART1, CD2AP, SUN1, SMUG1, MORC3, HARS1, HARS2, RYR3, SIRT3, HEXIM1, HSPA5, HSPB2, LPA, RIPOR2, SLK, LMO7, HDAC9, ULK2, LPIN2, MBL2, IFNG, ATG5, ABCG2, PPIG, MBNL1, MPV17, ABCC1, LIF, WASHC5, SRGAP3, USP15, LDHA, KCNJ2, IREB2, INSR, PPIF, OPTN, BCAP31, MBNL2, IL17A, AKR1A1, IL6, MYL9, IGHMBP2, NAT2
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Retinoschisis
Wikipedia
Tractional retinoschisis [ edit ] This may be present in conditions causing traction on the retina especially at the macula. [5] This may occur in: a) The vitreomacular traction syndrome; b) Proliferative diabetic retinopathy with vitreoretinal traction; c) Atypical cases of impending macular hole. ... External links [ edit ] Classification D ICD - 10 : H33.1 ICD - 9-CM : 361.1 OMIM : 312700 MeSH : D041441 DiseasesDB : 32603 External resources eMedicine : article/1225857 Orphanet : 792 GeneReview/NCBI/NIH/UW entry on X-Linked Juvenile Retinoschisis X-linked juvenile retinoschisis on Genetics Home Reference NCBI Genetic Testing Registry v t e Diseases of the human eye Adnexa Eyelid Inflammation Stye Chalazion Blepharitis Entropion Ectropion Lagophthalmos Blepharochalasis Ptosis Blepharophimosis Xanthelasma Ankyloblepharon Eyelash Trichiasis Madarosis Lacrimal apparatus Dacryoadenitis Epiphora Dacryocystitis Xerophthalmia Orbit Exophthalmos Enophthalmos Orbital cellulitis Orbital lymphoma Periorbital cellulitis Conjunctiva Conjunctivitis allergic Pterygium Pseudopterygium Pinguecula Subconjunctival hemorrhage Globe Fibrous tunic Sclera Scleritis Episcleritis Cornea Keratitis herpetic acanthamoebic fungal Exposure Photokeratitis Corneal ulcer Thygeson's superficial punctate keratopathy Corneal dystrophy Fuchs' Meesmann Corneal ectasia Keratoconus Pellucid marginal degeneration Keratoglobus Terrien's marginal degeneration Post-LASIK ectasia Keratoconjunctivitis sicca Corneal opacity Corneal neovascularization Kayser–Fleischer ring Haab's striae Arcus senilis Band keratopathy Vascular tunic Iris Ciliary body Uveitis Intermediate uveitis Hyphema Rubeosis iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Lens Cataract Congenital cataract Childhood cataract Aphakia Ectopia lentis Retina Retinitis Chorioretinitis Cytomegalovirus retinitis Retinal detachment Retinoschisis Ocular ischemic syndrome / Central retinal vein occlusion Central retinal artery occlusion Branch retinal artery occlusion Retinopathy diabetic hypertensive Purtscher's of prematurity Bietti's crystalline dystrophy Coats' disease Sickle cell Macular degeneration Retinitis pigmentosa Retinal haemorrhage Central serous retinopathy Macular edema Epiretinal membrane (Macular pucker) Vitelliform macular dystrophy Leber's congenital amaurosis Birdshot chorioretinopathy Other Glaucoma / Ocular hypertension / Primary juvenile glaucoma Floater Leber's hereditary optic neuropathy Red eye Globe rupture Keratomycosis Phthisis bulbi Persistent fetal vasculature / Persistent hyperplastic primary vitreous Persistent tunica vasculosa lentis Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc Optic neuritis optic papillitis Papilledema Foster Kennedy syndrome Optic atrophy Optic disc drusen Optic neuropathy Ischemic anterior (AION) posterior (PION) Kjer's Leber's hereditary Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus Ophthalmoparesis Chronic progressive external ophthalmoplegia Kearns–Sayre syndrome palsies Oculomotor (III) Fourth-nerve (IV) Sixth-nerve (VI) Other strabismus Esotropia / Exotropia Hypertropia Heterophoria Esophoria Exophoria Cyclotropia Brown's syndrome Duane syndrome Other binocular Conjugate gaze palsy Convergence insufficiency Internuclear ophthalmoplegia One and a half syndrome Refraction Refractive error Hyperopia Myopia Astigmatism Anisometropia / Aniseikonia Presbyopia Vision disorders Blindness Amblyopia Leber's congenital amaurosis Diplopia Scotoma Color blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria Argyll Robertson pupil Marcus Gunn pupil Adie syndrome Miosis Mydriasis Cycloplegia Parinaud's syndrome Other Nystagmus Childhood blindness Infections Trachoma Onchocerciasis
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Atypical Autism
Orphanet
A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.
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Shukla-Vernon Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Shukla-Vernon syndrome (SHUVER) is caused by hemizygous mutation in the BCORL1 gene (300688) on chromosome Xq25. Description Shukla-Vernon syndrome (SHUVER) is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development, and behavioral abnormalities, including autism spectrum disorder and ADHD.
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Vitreoretinal Degeneration, Snowflake Type
Omim
Lee et al. (2003) reported the ocular and systemic findings of the family originally described by Hirose et al. (1974) and studied the genetic loci distinguishing known genetic causes of vitreoretinal degenerations--COL2A1 (120140), COL11A1 (120280), and the Wagner syndrome locus--in this family. Ocular features included corneal guttae (80%), early-onset cataract (83%), fibrillar vitreous degeneration (100%), and peripheral retinal abnormalities (83%), including minute crystalline deposits called snowflakes (67%). ... Orofacial features (e.g., cleft palate, cleft lip, Pierre-Robin sequence), early-onset hearing loss, and arthritis typical of Stickler syndrome (see 108300) were absent. The absence of vitreous gel in the retrolental space and the presence of fibrillar vitreous degeneration were consistent with the vitreous structure reported for COL11A1, but not COL2A1, mutations. The absence of systemic features was characteristic of the vitreoretinopathies linked to chromosome 5q13 (Wagner syndrome and erosive vitreoretinopathy) and mutations in exon 2 of the COL2A1 gene. ... Localization of SVD to a 9-Mb region flanked by D2S2158 and D2S2202 distinct from both Wagner syndrome and the Stickler syndromes indicated that SVD is a distinct genetic entity.
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Autoimmune Autonomic Ganglionopathy
Wikipedia
Hallmarks include: Gastrointestinal dysmotility , including lack of appetite, nausea, constipation, diarrhea Anhidrosis (decreased ability to sweat), often preceded by excessive sweating Bladder dysfunction ( neurogenic bladder ) Small fiber peripheral neuropathy Severe orthostatic hypotension Pupillary dysfunction Syncope (fainting) Sicca syndrome (chronic dryness of the eyes and mouth) See: Xerostomia#Sicca syndrome No indication from the history or physical examination of cerebellar , striatal, pyramidal, and extrapyramidal dysfunction, as these features suggest the more serious multiple system atrophy . [2] Causes [ edit ] The cause is generally either paraneoplastic syndrome or idiopathic. ... A paraneoplastic panel may also be ordered to rule out paraneoplastic syndrome. [3] Treatment [ edit ] Where an underlying neoplasm is the cause, treatment of this condition is indicated in order to reduce progression of symptoms. For cases without a known cause, treatment involves suppression of the immune system with corticosteroid treatment, intravenous immunoglobulin , immunosuppressive agents like rituximab , myophenolate mofetil (Cellcept), or azathioprine (Imuran) or plasmapheresis . [4] See also [ edit ] Myasthenia gravis Dysautonomia Postural orthostatic tachycardia syndrome Multiple system atrophy References [ edit ] ^ Steven Vernino, MD; Steve Hopkins & Zhengbei Wang, MD (2009).
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B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Orphanet
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. ... Differential diagnosis Differential diagnosis includes spondyloepimetaphyseal dysplasias (e.g due to KIF22 or EXOC6B ), the other forms of spondylodysplastyic EDSs, as well as other genetic syndromes characterized by kyphoscoliosis, joint hypermobility, skin hyperextensibility and short stature.
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Pruritus Vulvae
Wikipedia
PMID 18416761 . v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder This cutaneous condition article is a stub .