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Ppp2r5d-Related Neurodevelopmental Disorder
Gene_reviews
Disorders to Consider in the Differential Diagnosis of PPP2R5D -Related Neurodevelopmental Disorder View in own window Differential Diagnosis Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/ PPP2R5D -related ND Distinguishing from PPP2R5D -related ND PTEN hamartoma tumor syndrome PTEN AD Macrocephaly Autism DD Hamartomatous overgrowths of multiple tissues ↑ cancer predisposition MTOR -related disorders (e.g., Smith-Kingsmore syndrome; OMIM 616638) MTOR AD Megalencephaly ID ASD Hypotonia Cortical brain malformations (polymicrogyria, focal cortical dysplasia) Pigmentary abnormalities of the skin Sotos syndrome NSD1 AD Megalencephaly ID Somatic overgrowth Characteristic facial features Additional congenital anomalies (e.g., cardiac, skeletal) Megalencephaly-capillary malformation syndrome (see PIK3CA -Related Segmental Overgrowth) PIK3CA AD ID Autistic features Seizures Hypotonia Megalencephaly Vascular malformations Somatic overgrowth (that can be focal) Lymphatic abnormalities Digital abnormalities (syndactyly, polydactyly) Cortical brain malformations (incl polymicrogyria) Hydrocephalus Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome PIK3R2 AKT3 CCND2 AD ID Autistic features Seizures Hypotonia Megalencephaly Cortical brain malformations (incl polymicrogyria) Hydrocephalus Polydactyly 16p11.2 deletion syndrome See footnote 1 AD ID Autistic features Seizures Hypotonia Obesity in adolescence & later in life Kleefstra syndrome EHMT1 AD ID Hypotonia Seizures Autistic-like features Obesity Distinct dysmorphic features AD = autosomal dominant; ASD = autism spectrum disorder; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; ND = neurodevelopmental disorder 1. ... Eyes Ophthalmologic eval & vision assessment Cardiac Full cardiac eval if audible murmurs present True prevalence of cardiac malformation in this syndrome not yet known Miscellaneous/ Other Developmental assessment Incl motor, speech/language eval, general cognitive, & vocational skills.
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Rectal Cancer
Mayo_clinic
Two well-defined genetic colorectal cancer syndromes are: Lynch syndrome. Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), increases the risk of colon cancer and other cancers. People with Lynch syndrome tend to develop colon cancer before age 50. ... Genetic testing can detect these and other, rarer inherited colorectal cancer syndromes. If you're concerned about your family history of colon cancer, talk to your doctor about whether your family history suggests you have a risk of these conditions. ... Chronic inflammatory diseases of the colon and rectum, such as ulcerative colitis and Crohn's disease, increase your risk of colorectal cancer. Inherited syndromes that increase rectal cancer risk. Genetic syndromes passed through generations of your family can increase your risk of colon and rectal cancer, including FAP and Lynch syndrome.NRAS, TYMS, EGFR, APC, CDKN1B, MUC2, MCC, MSH2, MTHFR, SLC6A8, CALCR, MLH1, CALR, KRAS, TP53, VEGFA, CD274, CEACAM5, BRAF, SMUG1, MAGEB6, IQCM, VDR, HIF1A, MRC1, CRP, CD44, CTNNB1, DPYD, DHCR24, ALB, PTGS2, PTEN, MIR21, ERBB2, MMP7, NAT2, PIK3CA, GSTM1, XRCC1, TYMP, PPARG, BCL2, SMAD4, AKT1, CHI3L1, MSH6, ERCC1, CEACAM7, UGT1A1, PROM1, SLC2A1, MIR31, MIR375, MAPK1, MAPK3, SCO2, ALOX12, RAB11B, ALDH2, IGF1, CYP2E1, SATB1, PSG2, TCF7L2, CEACAM3, KDR, MIR143, MIR155, ERCC2, CA9, PMS2, GSTP1, PTPRF, RAB1A, HRAS, PPP1R2C, IL6, HMGB1, DHDDS, SYTL2, CHPT1, CXCR2, PDK1, STOML2, ABCB1, MSH3, MMP9, MMP2, UCHL5, MGMT, MET, PLA2G15, MSRB1, KRT20, EPCAM, LOX, ACCS, PPARD, ACSS2, IDO1, VIM, MAPK8, IL13, XRCC6, CCL20, FLT1, ADIPOQ, TP53BP1, ARID3A, IL23R, TNF, TLR4, GADL1, STAT3, CYP1A1, TGFB1, SOX2, CDKN2A, CDKN1A, RUNX3, MIR144, MIR145, MIR29A, LGR5, KLF5, EGF, CCBE1, MIR195, AZIN2, ALDH1A1, EPHB2, EPHA4, AHSG, FH, ABCC4, ALOX15, XK, PPP1R16B, POLDIP2, TKTL1, XPA, STC2, XPC, CHD5, FJX1, DEK, MLRL, CXCR4, AIMP2, TENM4, XRCC2, XRCC3, LAP, RNF19A, QPCT, NRP1, BRMS1, COIL, CCRL2, GGH, EIF1, YAP1, CIB1, ZNRD2, TXNRD2, NDRG1, AHSA1, DLC1, SLCO1B1, APBB3, DCTN6, EIF2AK1, IQGAP2, SEPTIN9, PPP1R13L, BCL10, PPARGC1A, RUNDC3A, UBE2C, NLRP1, RAD50, SRA1, HOMER2, SELENOF, GRAP2, DCLK1, TBC1D9, RAPGEF3, SIRT1, GREM1, DNAJC12, INTU, LINC01194, MIR20A, MIR193A, MIR192, MIR17, MIR141, MIR137, MIR130A, MIR126, MIRLET7E, C2orf68, MTDH, TICAM2, MACC1, CLEC4D, THSD7A, SPAAR, DYNLL2, AFAP1L1, BPIFB6, TXNRD3, MIR200C, MIR221, MIR29C, MIR34A, H3P23, MICA, MIR3174, TMED7-TICAM2, KIR2DS2, MIR622, UCA1, POU5F1P4, POU5F1P3, MIR486-1, MIR381, MIR374A, MIR345, MIR335, PMS2CL, MARCHF11, PIM3, MIR17HG, MIR99B, IL17F, CERS5, HPGDS, PRKAG2, PCDHB3, RCC2, CCDC88A, SAGE1, AKIRIN2, CCHCR1, SMOX, SIRT7, LARS1, ZBTB7A, STARD13, ADIPOR1, GMNN, TMED7, FOXP3, TAS2R16, DUOX2, SCG3, SETD2, SGSM3, RAD18, SLC12A9, PNPLA2, SELENON, BAGE4, ATAD1, REG4, SPNS1, SESN2, TXNDC5, MAGED4B, CLPTM1L, PDCD1LG2, COASY, PEAK1, CERS4, CORO7, VKORC1, RAPH1, NOD2, CXCL16, CIP2A, MIB1, WNT3, NAT1, EZR, EPHA1, GDF10, FOS, FOLH1, FGFR2, FGF8, FAP, EXT1, ETV4, ERBB3, EPAS1, CYP2A6, EMD, EIF5, EIF4E, DUSP1, DPP4, TIMM8A, ACE, DCC, CYP19A1, GJA1, GPX2, GPX3, GSTM2, IL17A, IL15, CXCR1, CXCL8, IL1B, IFNGR2, IFNGR1, IFNG, IFI27, IRF8, HTC2, HSPA5, HSD17B2, HMGCS2, HLA-DQB1, HGF, HBBP1, H2AX, GSTT1, CYP17A1, CYP1A2, VEGFC, APOE, BAK1, ALDH7A1, ATM, ASNS, ASCL2, ASAH1, ARSA, AREG, AR, BIRC5, CYBB, XIAP, APEX1, ANXA1, ALOX5AP, ALDOB, ALCAM, PARP1, ACAT1, ABO, CCND1, BCL2L1, BLM, BMP1, MAPK14, CRK, COMT, COL11A2, CLCA1, CHD4, CDX2, CASR, CASP10, CASP9, CASP8, MYRF, BUB1, BRCA2, BMPR2, BMPR1B, BMPR1A, BMP4, BMP2, IRF2, IRF3, IRF6, CXCL12, STK11, STAT6, STAT4, STAT2, STAR, SPARC, SOD2, SMO, SLC6A4, CCL22, EIF6, RRM1, RPS6KA2, RPS6KA1, ROCK1, RENBP, RBP1, RBM4, RAN, RAD51, TAZ, TCF4, TCF21, TCN1, UMPS, UCP2, UBC, TYK2, TXNRD1, TSC2, TSC1, TRNAG1, TNFRSF1B, TLR3, TLR2, TKT, TIMP2, TFF3, TERT, TMBIM6, TDGF1, TDG, TRG, RAB5C, PTPN4, PTGS1, NPY, NFKB1, NARS1, MUTYH, MUC6, MSR1, MRE11, MMP11, MKI67, ADAM11, MAGEA3, SMAD7, SMAD3, SMAD2, LEP, LCN2, KIT, KIR2DS5, KIR2DS4, JAK1, NME1, YBX1, PTGER2, OGG1, PSMD9, PSMB8, PTPA, POU5F1, PMS1, PLK1, PLG, PLA2G4A, PIK3CG, PIK3CD, PIK3CB, SERPINB5, SERPINF1, PDGFRB, PDE4A, PDCD1, PCK2, SERPINE1, PRDX1, H3P10
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Heparin-Induced Thrombocytopenia
Wikipedia
"Platelet-endothelial interactions: sepsis, HIT, and antiphospholipid syndrome". Hematology Am Soc Hematol Educ Program . 2003 : 497–519. doi : 10.1182/asheducation-2003.1.497 . ... External links [ edit ] Classification D ICD - 10 : D69.5 ICD - 9-CM : 289.84 External resources MedlinePlus : 000556 eMedicine : article/1357846 v t e Disorders of bleeding and clotting Coagulation · coagulopathy · Bleeding diathesis Clotting By cause Clotting factors Antithrombin III deficiency Protein C deficiency Activated protein C resistance Protein S deficiency Factor V Leiden Prothrombin G20210A Platelets Sticky platelet syndrome Thrombocytosis Essential thrombocythemia DIC Purpura fulminans Antiphospholipid syndrome Clots Thrombophilia Thrombus Thrombosis Virchow's triad Trousseau sign of malignancy By site Deep vein thrombosis Bancroft's sign Homans sign Lisker's sign Louvel's sign Lowenberg's sign Peabody's sign Pratt's sign Rose's sign Pulmonary embolism Renal vein thrombosis Bleeding By cause Thrombocytopenia Thrombocytopenic purpura : ITP Evans syndrome TM TTP Upshaw–Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly Platelet function adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II Factor VII deficiency Factor X deficiency Factor XII deficiency Factor XIII deficiency Dysfibrinogenemia Congenital afibrinogenemia Signs and symptoms Bleeding Bruise Hematoma Petechia Purpura Nonthrombocytopenic purpura By site head Epistaxis Hemoptysis Intracranial hemorrhage Hyphema Subconjunctival hemorrhage torso Hemothorax Hemopericardium Pulmonary hematoma abdomen Gastrointestinal bleeding Hemobilia Hemoperitoneum Hematocele Hematosalpinx joint Hemarthrosis
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Thyroid Storm
Wikipedia
This is likely responsible for several of the cardiovascular symptoms (increased cardiac output, heart rate, stroke volume) seen in thyroid storm. [ citation needed ] [10] Thyroid storm as allostatic failure [ edit ] According to newer theories, thyroid storm results from allostatic failure in a situation where thyrotoxicosis hampers the development of non-thyroidal illness syndrome , [11] which would help to save energy in critical illness and other situations of high metabolic demand. [8] Usually, in critical illness (e.g. sepsis , myocardial infarction and other causes of shock ) thyroid function is tuned down to result in low-T3 syndrome and, occasionally, also low TSH concentrations, low-T4 syndrome and impaired plasma protein binding of thyroid hormones. This endocrine pattern is referred to as euthyroid sick syndrome (ESS), non-thyroidal illness syndrome (NTIS) or thyroid allostasis in critical illness, tumours, uraemia and starvation (TACITUS). ... Any suspected underlying cause is also addressed. [2] See also [ edit ] Myxedema coma Euthyroid sick syndrome References [ edit ] ^ "Thyroid Storm Clinical Presentation: History, Physical Examination, Complications" . ^ a b c d Klubo-Gwiezdzinska, Joanna; Wartofsky, Leonard (March 2012). ... External links [ edit ] Classification D ICD - 10 : E05.5 MeSH : D013958 External resources eMedicine : article/925147 v t e Thyroid disease Hypothyroidism Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Myxedema coma Euthyroid sick syndrome Signs and symptoms Queen Anne's sign Woltman sign Thyroid dyshormonogenesis Pickardt syndrome Hyperthyroidism Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Thyroid storm Graves' disease Signs and symptoms Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign lid lag Griffith's sign Möbius sign Pretibial myxedema Graves' ophthalmopathy Thyroiditis Acute infectious Subacute De Quervain's Subacute lymphocytic Palpation Autoimmune /chronic Hashimoto's Postpartum Riedel's Enlargement Goitre Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule Colloid nodule
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Gestational Hypertension
Wikipedia
Some women with gestational hypertension may present asymptomatic, but a number of symptoms are associated with the condition. [1] Symptoms Edema Sudden weight gain Blurred vision or sensitivity to light Nausea and vomiting Persistent headaches Increased blood pressure Risk factors [ edit ] Maternal causes Obesity Mothers under 20 or over 40 years old [2] Past history of diabetes mellitus , hypertension (particularly gestational hypertension) and renal disease [2] Pre-existing hypertension [2] Thrombophilias (anti-phospholoipid syndrome, protein C/S deficiency, factor V Leiden) Having donated a kidney [3] Pregnancy Multiple gestation (twins or triplets, etc.) [2] Placental abnormalities: Hyperplacentosis: Excessive exposure to chorionic villi Placental ischemia Family history Family history of pre-eclampsia Diagnosis [ edit ] Conditions [ edit ] There exist several hypertensive states of pregnancy : Gestational hypertension Gestational hypertension is usually defined as having a blood pressure higher than 140/90 measured on two separate occasions, more than 6 hours apart, without the presence of protein in the urine and diagnosed after 20 weeks of gestation. [4] Pre-eclampsia Pre-eclampsia is gestational hypertension plus proteinuria (>300 mg of protein in a 24-hour urine sample). Severe pre-eclampsia involves a blood pressure greater than 160/110, with additional medical signs and symptoms . HELLP syndrome is a type of pre-eclampsia. It is a combination of three medical conditions: hemolytic anemia , elevated liver enzymes and low platelet count . ... Pre-eclampsia and eclampsia are sometimes treated as components of a common syndrome. [5] Treatment [ edit ] There is no specific treatment, but is monitored closely to rapidly identify pre-eclampsia and its life-threatening complications ( HELLP syndrome and eclampsia). ... "Brief review: hypertension in pregnancy : a manifestation of the insulin resistance syndrome?" . Hypertension . 37 (2): 232–9. doi : 10.1161/01.hyp.37.2.232 . ... External links [ edit ] Classification D ICD - 10 : O13 - O14 ICD - 9-CM : 642 MeSH : D046110 DiseasesDB : 5208 External resources MedlinePlus : 000898 eMedicine : med/3250 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 [1] ^ https://speciality.medicaldialogues.in/pregnancy-hypertension-high-blood-pressure-during-pregnancy-linked-to-heart-failure-and-stroke-later/
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Cataplexy
Wikipedia
The term cataplexy originates from the Greek κατά ( kata , meaning "down"), and πλῆξις ( plēxis , meaning "strike") [4] and it was first used around 1880 in German physiology literature to describe the phenomenon of tonic immobility also known as "playing possum" (in reference to the opossum 's behavior of feigning death when threatened). [4] In the same year the French neuropsychiatrist Jean-Baptiste Gélineau coined the term 'narcolepsy' and published some clinical reports that contain details about two patients who have similar condition as the narcoleptic cases nowadays. [5] Nevertheless, the onset reported by him was in adulthood as compared to the nowadays cases reported in childhood and adolescence. [6] Even if he preferred the term ‘astasia’ instead of ‘cataplexy’ the case described by him remained iconic for the full narcoleptic syndrome . [4] Contents 1 Signs and symptoms 2 Mechanism 2.1 Theories for episodes 2.2 Hypocretin 3 Diagnosis 4 Treatment 4.1 Gamma-hydroxybutyrate 4.2 Antidepressants 4.3 Future treatments for cataplexy 4.3.1 Immune-based therapies 4.3.2 Histaminergic H3 receptor inverse agonist 5 Research 6 See also 7 References 8 External links Signs and symptoms [ edit ] Cataplexy manifests itself as muscular weakness which may range from a barely perceptible slackening of the facial muscles to complete muscle paralysis with postural collapse. [7] Attacks are brief, most lasting from a few seconds to a couple of minutes, and typically involve dropping of the jaw, neck weakness, and/or buckling of the knees. ... Other conditions in which cataplexy can be seen include ischemic events, multiple sclerosis , head injury , paraneoplastic syndromes , and infections such as encephalitis . ... External links [ edit ] Classification D ICD - 10 : G47.4 ICD - 9-CM : 347 MeSH : D002385 DiseasesDB : 16311 External resources Patient UK : Cataplexy v t e Sleep and sleep disorders Stages of sleep cycles Rapid eye movement (REM) Non-rapid eye movement Slow-wave Brain waves Alpha wave Beta wave Delta wave Gamma wave K-complex Mu rhythm PGO waves Sensorimotor rhythm Sleep spindle Theta wave Sleep disorders Dyssomnia Excessive daytime sleepiness Hypersomnia Insomnia Kleine–Levin syndrome Narcolepsy Night eating syndrome Nocturia Sleep apnea Catathrenia Central hypoventilation syndrome Obesity hypoventilation syndrome Obstructive sleep apnea Periodic breathing Sleep state misperception Circadian rhythm disorders Advanced sleep phase disorder Cyclic alternating pattern Delayed sleep phase disorder Irregular sleep–wake rhythm Jet lag Non-24-hour sleep–wake disorder Shift work sleep disorder Parasomnia Bruxism Nightmare disorder Night terror Periodic limb movement disorder Rapid eye movement sleep behavior disorder Sleepwalking Somniloquy Benign phenomena Dreams Exploding head syndrome Hypnic jerk Hypnagogia / Sleep onset Hypnopompic state Sleep paralysis Sleep inertia Somnolence Nocturnal clitoral tumescence Nocturnal penile tumescence Nocturnal emission Treatment Sleep diary Sleep hygiene Sleep induction Hypnosis Lullaby Somnology Polysomnography Other Sleep medicine Behavioral sleep medicine Sleep study Daily life Bed Bunk bed Daybed Four-poster bed Futon Hammock Mattress Sleeping bag Bed bug Bedding Bedroom Bedtime Bedtime story Bedtime toy Biphasic and polyphasic sleep Chronotype Dream diary Microsleep Mouth breathing Nap Nightwear Power nap Second wind Siesta Sleep and creativity Sleep and learning Sleep deprivation / Sleep debt Sleeping while on duty Sleepover Snoring v t e Disorders of consciousness Unconsciousness Minimally conscious state Persistent vegetative state Obtundation Coma Brain stem death Stupor Sopor Sleep Somnolence Cataplexy Syncope Heat syncope Vasovagal episode Alteration of consciousness Locked-in syndrome
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Dysphagia
Wikipedia
Following table enumerates possible causes of dysphagia: Location Cause Oral dysphagia Inlammation/Infection Tonsillitis Peritonsillar abscess Stomatitis Tongue cancer Neurological Paralysis of soft palate , usually due to diphtheria in children and bulbar palsy in adults Bell's palsy Xerostomia /dry mouth - e.g. Sjogren's syndrome Pharyngeal dysphagia Lumen: Impacted foreign body Wall: Pharyngitis Paterson-Kelly syndrome Pharyngeal spasms Malignant neoplasm Outside the wall: Retropharyngeal abscess Lymphadenopathy of cervical lymph nodes Thyroid malignancy Eagle syndrome Esophageal dysphagia Lumen Impacted foreign body Wall: Esophageal atresia Benign strictures , due to reflux esophagitis , swallowed corrosives , tuberculosis , and radiotherapy , scleroderma/systemic sclerosis Spasms, due to achalasia , Paterson-Kelly syndrome , esophageal webs , and esophageal rings Neoplasms, such as esophageal cancer , esophageal leiomyoma Nervous disorders, such as bulbar palsy , pseudobulbar palsy , post- vagotomy , myasthenia gravis Crohn's disease Candida esophagitis Eosinophilic esophagitis Outside the wall: Retrosternal goitre Malignancy Zenker's diverticulum Aortic aneurysm Mediastinal growth Dysphagia lusoria Periesophagitis Hiatus hernia Tight hiatus repairs/laparoscopic fundoplication; gastric banding Difficulty with or inability to swallow may be caused or exacerbated by usage of opiate and/or opioid drugs. [12] Diagnostic approach [ edit ] Esophagoscopy and laryngoscopy can give direct view of lumens. ... Some common ones are: [ citation needed ] Esophageal atresia Paterson-Kelly syndrome Zenker's diverticulum Esophageal varices Benign strictures Achalasia Esophageal diverticula Scleroderma Diffuse esophageal spasm Polymyositis Webs and rings Esophageal cancer Eosinophilic esophagitis Hiatus hernia , especially paraesophageal type Dysphagia lusoria Stroke Fahr's disease Wernicke encephalopathy Charcot–Marie–Tooth disease Parkinson's disease Multiple sclerosis Amyotrophic lateral sclerosis Cervical Spondylosis [14] Esophageal [15] dysphagia is almost always caused by disease in or adjacent to the esophagus but occasionally the lesion is in the pharynx or stomach. ... "Central pontine and extrapontine myelinolysis: the osmotic demyelination syndromes" . Journal of Neurology, Neurosurgery, and Psychiatry . 75 Suppl 3: iii22–28. doi : 10.1136/jnnp.2004.045906 . ... CS1 maint: uses authors parameter ( link ) External links [ edit ] Dysphagia at Curlie Classification D ICD - 10 : R13 ICD - 9-CM : 438.82 , 787.2 MeSH : D003680 DiseasesDB : 17942 External resources MedlinePlus : 003115 eMedicine : pmr/194 Patient UK : Dysphagia v t e Symptoms and signs relating to the human digestive system or abdomen Gastrointestinal tract Nausea Vomiting Heartburn Aerophagia Pagophagia Dysphagia oropharyngeal esophageal Odynophagia Bad breath Xerostomia Hypersalivation Burping Wet burp Goodsall's rule Chilaiditi syndrome Dance's sign Aaron's sign Arapov's sign Markle sign McBurney's point Sherren's triangle Radiologic signs : Hampton's line Klemm's sign Accessory liver : Councilman body Mallory body biliary: Boas' sign Courvoisier's law Charcot's cholangitis triad / Reynolds' pentad cholecystitis ( Murphy's sign Lépine's sign Mirizzi's syndrome ) Nardi test Defecation Flatulence Fecal incontinence Encopresis Fecal occult blood Rectal tenesmus Constipation Obstructed defecation Diarrhea Rectal discharge Psoas sign Obturator sign Rovsing's sign Hamburger sign Heel tap sign Aure-Rozanova's sign Dunphy sign Alder's sign Lockwood's sign Rosenstein's sign Abdomen Pain Abdominal pain Acute abdomen Colic Baby colic Abdominal guarding Blumberg sign Distension Abdominal distension Bloating Ascites Tympanites Shifting dullness Ascites Fluid wave test Masses Abdominal mass Hepatosplenomegaly Hepatomegaly Splenomegaly Other Jaundice Mallet-Guy sign Puddle sign Ballance's sign Aortic insufficiency Castell's sign Kehr's sign Cullen's sign Grey Turner's sign Hernia Howship–Romberg sign Hannington-Kiff sign Other Cupola sign Fothergill's sign Carnett's sign Sister Mary Joseph nodule Authority control GND : 4125110-6 NDL : 00576682 NSK : 002104703MEGF10, TSEN2, TSEN54, TSEN34, KIT, ATXN3, MATR3, ATXN1, PANK2, TWNK, SLC52A2, PSEN1, TP63, DYSF, AR, DNAJB6, ATXN2, ATXN8OS, SCN4A, PABPN1, CACNA1A, SLC9A6, KLHL41, TUBB4A, NOP56, SON, IKZF1, STUB1, HUWE1, DNM1L, SCO2, KMT2B, SEMA3E, SNCAIP, OPTN, ERLIN2, NPC2, AFG3L2, PIK3R5, KAT6B, MACF1, TARDBP, ATP13A2, SPECC1L, DNAJC13, AGTPBP1, DDHD2, VPS13A, PLXND1, SPART, SETX, DKK1, PUF60, POLG2, POLR3A, MYOT, CACNA1G, MED17, SURF1, TPM3, TPM2, TOP3A, TK2, TBP, TBCD, VAMP1, SPG7, VARS1, SOX4, ACOX1, SNCA, SNAP25, SLC25A1, SLC18A3, SLC6A9, UBTF, VCP, CYP7B1, SYNJ1, PEX16, NRXN1, PLAA, TRIP4, PIGQ, NUP62, SQSTM1, PDE8B, WFS1, PRKRA, KCNAB2, CNTNAP1, PLA2G6, COLQ, SMC1A, XRCC1, PIGN, CHMP2B, FBXO7, PYROXD1, REPS1, LINGO1, TUBB6, C19orf12, SLC19A3, FLAD1, SPG11, KIAA0319L, SLC25A22, MGME1, RHBDF2, CARS2, CDC73, FA2H, REEP1, IRF2BPL, PRDM16, SLC5A7, NDUFAF2, SLC52A3, ATXN10, RNASEH1, CHCHD10, MYMK, AGRN, KY, CAVIN1, KANSL1, SYT14, EBF3, C9orf72, LRRK2, ARX, KCTD7, SIK1, CARMIL2, TTBK2, HGSNAT, KLHL40, SYT2, GBA2, ALS2, ARID1B, TBK1, YARS2, ASCC1, GEMIN4, RRM2B, UBQLN2, LRP12, GMPPA, ANKRD11, SACS, MYORG, FBXL4, TOR1AIP1, GIGYF2, CNTNAP2, SETBP1, SDHD, PNKD, NDUFAF3, MECR, TRAPPC12, COQ4, RLIM, SELENON, MFF, LMOD3, KLHL7, VPS11, TBC1D23, VPS35, POLR3B, VAC14, CHD7, FERMT1, NCAPG2, GDAP2, PDP1, MAGEL2, SPG21, KCNK9, SKI, ATXN8, KCNC3, KCND3, ITGB4, CACNA1C, IRF6, IRF5, CAV1, IDH2, IDH1, HPRT1, HOXB1, HPCA, HLA-DRB1, HLA-B, HTT, H3-3A, GUCY1A1, SDHC, KIF5A, CHAT, LAMA2, ATP6, MRE11, MPZ, MMP1, KMT2A, MID1, MECP2, MCL1, MAPT, BRAF, LMNB1, LIFR, LBR, SERPING1, LAMB2, SCARB2, GRM1, ND2, EPRS1, CHRNE, ECM1, TYMP, ATN1, CLCN1, CCR6, DYNC1H1, DMPK, COL7A1, DGUOK, TIMM8A, COL13A1, CYP27A1, CTNS, CCN2, EIF4G1, FMR1, GRIN2D, FXN, GRIN2B, GNS, GNAQ, GNAO1, GLUD2, GJB1, GFPT1, GCH1, CHN1, CHRNA1, GBA, GABRD, CHRND, FUS, FTL, ND1, MSX1, ND3, OPA1, ADH1C, PRNP, MAP2K2, PRKCG, POLG, SLC25A4, EXOSC9, PLP1, PLEC, PIGA, PFN1, APP, PDGFRA, ND4, ASPA, PRPS1, PSAP, ADD3, ATXN7, SDHB, ACTA1, SDHA, SCN8A, ACTB, SCN3A, RYR1, PTCH1, REV3L, ACTG2, ADAR, QDPR, NECTIN1, PTS, RERE, PCNA, NR4A2, NDUFA9, ATP7B, ND5, ND6, TRNK, TRNL1, TRNV, TRNW, ATP7A, MYH7, MYH8, MYO9A, NDUFA6, ATP1A3, NEB, CRYAB, NDUFS3, NDUFS1, NPC1, NF1, NEUROD2, NEK1, NDUFS2, NDUFB8, SOD1, BDNF, TAC1, CRP, ALB, MORC3, NPNT, ATP4A, ATP12A, COPD, IGFALS, BMP2, ARSA, CRYGD, ASXL1, UCN2, MALAT1, APOE, CA3, IS1, OTULIN, SGCA, CSF2, NBN, NT5E, PAFAH1B1, CDK13, PAX9, ELP1, SRPX, EPX, ZP3, YWHAE, PNN, TRI-AAT9-1, TRNAG1, TPO, PSMA7, RAD51, TRIM21, RPS20, SLN, SLC10A1, PCYT1B, SAE1, CTBS, CCL26, ECI1, DMD, DPP4, MRS2, EGF, FUT3, GCG, TET2, GSS, GSTP1, IL5, PART1, KRAS, TNFRSF13B, SF3B1, LAMC2, LY6E, MMP8, KDELR2, ACR
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Auditory Verbal Agnosia
Wikipedia
MRIs showed cortical atrophy in the left superior temporal lobe region. [11] In childhood, auditory verbal agnosia can also be caused by Landau-Kleffner syndrome , also called acquired epileptic aphasia. ... You can help by adding to it . ( November 2013 ) There is no uniform performance among patients with auditory verbal agnosia; therefore it is not possible to attribute specific phonetic or phonological deficits to the syndrome. [2] In order to diagnose AVA, two intact abilities need to be established: Words that are heard must have undergone adequate acoustic analysis as evidenced by correct repetition; [15] The semantic representation of the word must be intact as evidenced by immediate comprehension of the word when presented in written form. [15] If both of these criteria are met and lack of auditory verbal comprehension is apparent, a diagnosis of AVA may follow. ... Tumor removal [ edit ] In incidents where tumors and their pressure effects are the cause of pure word deafness, removal of the tumor has been shown to allow for the return of most auditory verbal comprehension. [22] Treatments used for Landau-Kleffner syndrome [ edit ] Main article: Landau-Kleffner syndrome § Treatment Intravenous immunoglobulin therapy [ edit ] Treating auditory verbal agnosia with intravenous immunoglobulin (IVIG) is controversial because of its inconsistency as a treatment method. ... "Diagnostic and Management Considerations of Acquired Epileptic Aphasia or Landau-Kleffner Syndrome". The American Journal of Otology . 12 . ^ Kim SH, Suh MK, Seo SW, Chin J, Han SH, Na DL (December 2011). ... CS1 maint: multiple names: authors list ( link ) ^ Mikati, MA.; Shamseddine, AN. (2005). "Management of Landau-Kleffner syndrome". Paediatr Drugs . 7 (6): 377–89. doi : 10.2165/00148581-200507060-00006 .
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Hyperlexia
Wikipedia
Part of a series on Reading Learning to read Learning to read Scientific Theories & Models Dual route theory Simple view of reading Cognitive processes Comprehension Phonemic awareness Phonological awareness Subvocalization Word recognition Reading instruction Analytical phonics Basal reader Guided reading Independent reading Literature circle Phonics Reciprocal teaching Structured word inquiry Synthetic phonics Whole language Reading rate Fluency Slow reading Speed reading Readability Readability Readability test Reading differences & disabilities Dyslexia Hyperlexia Reading disability Reading for special needs Language Alphabetic principle Braille Dolch word list Grapheme History of printing Language Languages by writing system Morpheme Orthography Phoneme Sight word Vocabulary Writing Writing system Literacy Children's literature Critical literacy Close reading Distant reading Great books Literacy Literature Literary criticism Functional illiteracy Family literacy v t e William-Adolphe Bouguereau , The Difficult Lesson (1884) Hyperlexia is a syndrome characterized by a child 's precocious ability to read . ... When "Autism" Isn't Autistic Disorder: Hyperlexia and Einstein Syndrome" . Scientific American Mind . Retrieved December 6, 2017 . Look up hyperlexia in Wiktionary, the free dictionary. v t e Pervasive developmental disorders and autism spectrum Main Causes Comorbid conditions Epidemiology Heritability Societal and cultural aspects Medical model Therapies Diagnoses Autism spectrum ( High-functioning autism Classic autism Asperger syndrome Pervasive developmental disorder not otherwise specified Childhood disintegrative disorder Rett syndrome ) Related conditions Alexithymia Attention deficit hyperactivity disorder Anxiety disorder ( obsessive–compulsive disorder ) Late talker Epilepsy Fragile X syndrome Hyperlexia Savant syndrome Sensory processing disorder Intellectual disability Developmental coordination disorder Multiple complex developmental disorder Controversies Autism rights movement Autistic enterocolitis Facilitated communication MMR vaccine Rapid prompting method Thiomersal ( Chelation ) Diagnostic scales Gilliam Asperger's disorder scale Autism Diagnostic Observation Schedule Autism Diagnostic Interview Autism-spectrum quotient Childhood Autism Rating Scale Lists Autism-related topics Fictional characters Schools v t e Autism resources Autism outline spectrum Awareness Autism friendly Autism Sunday Communication Shutdown World Autism Awareness Day Culture Autistic art Autism spectrum disorders in the media Fictional characters Films about autism Circle of Friends Neurodiversity Medical model of autism Societal and cultural aspects of autism Therapies Psychotropic medication ( antipsychotics ) Aripiprazole Risperidone Behavioral Applied behavior analysis (ABA) Discrete trial training ( Lovaas ) Picture exchange communication system (PECS) Pivotal response treatment Positive behavior support Cognitive behavior therapy (CBT) Social skills training Developmental Early start denver model Floortime ( The PLAY Project ) Controversial Auditory integration training Aversive therapy / Electric shocks ( Judge Rotenberg Educational Center ) Chelation of mercury Ethical challenges to autism treatment Facilitated communication Gluten-free casein-free diet Hug machine Hyperbaric oxygen therapy Holding therapy Relationship development intervention Secretin Sensory integration therapy Son-Rise Vitamin B12 Related ADHD medication ( Clonidine · Guanfacine · Methylphenidate ) Melatonin Occupational therapy Social Stories Speech therapy SSRI antidepressants ( Fluoxetine · Paroxetine · Sertraline ) Structured teaching (TEACCH) Centers Research United States Association for Science in Autism Treatment Autism Research Institute Autism Science Foundation Kennedy Krieger Institute National Alliance for Autism Research Simons Foundation Autism Research Initiative Yale Child Study Center United Kingdom Autism Research Centre (UK) other / see also Conditions and research areas Researchers Therapy United States Center for Autism and Related Disorders (CARD) MIND Institute Schools Alpine Learning Group Eden II School for Autistic Children ELIJA School ESPA College (UK) Exceptional Minds (USA) New England Center for Children Pathlight School (Singapore) Rebecca School Sunfield Children's Home (UK) TreeHouse School (UK) Western Autistic School (Australia) List of schools Organizations Americas United States Autism National Committee Autism Network International Autism Science Foundation Autistic Self Advocacy Network Autism Society of America Autism Speaks Centro Ponceño de Autismo Daniel Jordan Fiddle Foundation Generation Rescue Interactive Autism Network Interagency Autism Coordinating Committee LENA Foundation National Alliance for Autism Research National Council on Severe Autism Talk About Curing Autism other Centro Ann Sullivan (Peru) Domus Instituto de Autismo (Mexico) Filipino-Canadian Autism Parent Support Group (Canada) Geneva Centre for Autism (Canada) Asia Action for Autism (India) Autism Resource Centre (Singapore) Caribbean Autistic Society (Trinidad and Tobago) Maia Chung Autism and Disabilities Foundation (Jamaica) Europe UK Autism Anglia The Autism Directory Autism Awareness Campaign UK Autism Cymru Autism Plus Autistica National Autistic Society Sacar other Specialisterne (Denmark) Aspies For Freedom Alliance Autiste Oceania Luke Priddis Foundation (Australia) International Autism rights movement Wrong Planet Literature Non-fiction The Accidental Teacher: Life Lessons from My Silent Son Animals in Translation Aspergirls: Empowering Females with Asperger's Syndrome Autism's False Prophets Extreme Love: Autism Fall Down 7 Times Get Up 8 Freaks, Geeks, and Asperger Syndrome: A User Guide to Adolescence In a Different Key Life Animated Like Colour to the Blind Look Me in the Eye Mother Warriors My Autobiography NeuroTribes Nobody Nowhere Overcoming Autism The Reason I Jump Somebody Somewhere Son-Rise: The Miracle Continues Strange Son Switched On Unstrange Minds Fiction The Curious Incident of the Dog in the Night-Time Dear John House Rules Mockingbird Saving Max Speed of Dark The Winter Journey With the Light For younger people Everybody Is Different: A Book for Young People Who Have Brothers or Sisters With Autism Ian's Walk: A Story about Autism Marcelo in the Real World Rage: A Love Story Rules Journals Autism Journal of Autism and Developmental Disorders Molecular Autism Research in Autism Spectrum Disorders
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Simultanagnosia
Wikipedia
See also: Bálint's syndrome Simultanagnosia (or simultagnosia ) is a rare neurological disorder characterized by the inability of an individual to perceive more than a single object at a time. This type of visual attention problem is one of three major components (the others being optic ataxia and optic apraxia) of Bálint's syndrome , an uncommon and incompletely understood variety of severe neuropsychological impairments involving space representation (visuospatial processing). ... "Implicit processing of global information in Bálint's syndrome" . Cortex (Article). 40 (1): 179–180. doi : 10.1016/s0010-9452(08)70941-9 . ... "The interaction of spatial and object pathways: Evidence from Bálint's syndrome" . Journal of Cognitive Neuroscience . 9 (3): 295–317. doi : 10.1162/jocn.1997.9.3.295 . ... "Components of high-level vision: a cognitive neuroscience analysis and accounts of neurological syndromes" (PDF) . Cognition . 34 (3): 203–277. doi : 10.1016/0010-0277(90)90006-6 .
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Shigellosis
Wikipedia
Shigellosis Other names Bacillary dysentery, Marlow syndrome Shigella seen in a stool sample Specialty Infectious disease Symptoms Diarrhea, fever, abdominal pain [1] Complications Reactive arthritis , sepsis , seizures , hemolytic uremic syndrome [1] Usual onset 1–2 days post exposure [1] Duration Usually 5–7 days [1] Causes Shigella [1] Diagnostic method Stool culture [1] Prevention Handwashing [1] Treatment Drinking fluids and rest [1] Medication Antibiotics (severe cases) [1] Frequency >80 million [2] Deaths 700,000 [2] Shigellosis is an infection of the intestines caused by Shigella bacteria . [1] [3] Symptoms generally start one to two days after exposure and include diarrhea , fever , abdominal pain , and feeling the need to pass stools even when the bowels are empty . [1] The diarrhea may be bloody. [1] Symptoms typically last five to seven days and it may take several months before bowel habits return entirely to normal. [1] Complications can include reactive arthritis , sepsis , seizures , and hemolytic uremic syndrome . [1] Shigellosis is caused by four specific types of Shigella . [2] These are typically spread by exposure to infected feces . [1] This can occur via contaminated food, water, or hands or sexual contact . [1] [4] Contamination may be spread by flies or when changing diapers (nappies). [1] Diagnosis is by stool culture . [1] The risk of infection can be reduced by properly washing the hands. [1] There is no vaccine . [1] Shigellosis usually resolves without specific treatment. [1] Sufficient fluids by mouth and rest is recommended. [1] Bismuth subsalicylate may help with the symptoms; however, medications that slow the bowels such as loperamide are not recommended. [1] In severe cases antibiotics may be used but resistance is common. [1] [5] Commonly used antibiotics include ciprofloxacin and azithromycin . [1] Globally shigellosis occurs in at least 80 million people and results in about 700,000 deaths a year. [2] Most cases occur in the developing world . [2] Young children are most commonly affected. [1] Outbreaks of disease may occur in childcare settings and schools. [1] It is also relatively common among travelers. [1] In the United States about half a million cases occur a year. [1] Contents 1 Signs and symptoms 2 Cause 2.1 Bacteria 2.2 Transmission 3 Mechanism 4 Diagnosis 5 Prevention 5.1 Vaccine 6 Treatment 6.1 Antibiotics 7 Epidemiology 8 See also 9 References 10 External links Signs and symptoms [ edit ] Signs and symptoms may range from mild abdominal discomfort to full-blown dysentery characterized by cramps , diarrhea , with slimy-consistent stools, fever, blood, pus , or mucus in stools or tenesmus . [6] [7] Onset time is 12 to 96 hours, and recovery takes 5 to 7 days. [8] Infections are associated with mucosal ulceration , rectal bleeding , and drastic dehydration . Reactive arthritis and hemolytic uremic syndrome are possible sequelae that have been reported in the aftermath of shigellosis. [ citation needed ] The most common neurological symptom includes seizures . [9] Cause [ edit ] Bacteria [ edit ] Shigellosis is caused by a bacterial infection with Shigella , [1] a bacterium that is genetically similar to and was once classified as E. coli . [10] There are three serogroups and one serotype of Shigella : Shigella flexneri Shigella boydii Shigella dysenteriae and Shigella sonnei (serotype) [1] The probability of being infected by any given strain of Shigella varies around the world. ... Individuals with acquired immune deficiency syndrome (AIDS) are more frequently infected with Shigella . [28] Shigellosis is a more common and serious condition in the developing world; fatality rates of shigellosis epidemics in developing countries can be 5–15%. [29] Orthodox Jewish communities (OJCs) are a known risk group for shigellosis; Shigella sonnei is cyclically epidemic in these communities in Israel , with sporadic outbreaks occurring elsewhere in among these communities. ... External links [ edit ] CDC's Shigellosis Page Vaccine Resource Library: Shigellosis and enterotoxigenic Escherichia coli (ETEC) Classification D ICD - 10 : A03 ICD - 9-CM : 004 MeSH : D004405 External resources MedlinePlus : 000295 eMedicine : med/2112 Patient UK : Shigellosis v t e Proteobacteria -associated Gram-negative bacterial infections α Rickettsiales Rickettsiaceae / ( Rickettsioses ) Typhus Rickettsia typhi Murine typhus Rickettsia prowazekii Epidemic typhus , Brill–Zinsser disease , Flying squirrel typhus Spotted fever Tick-borne Rickettsia rickettsii Rocky Mountain spotted fever Rickettsia conorii Boutonneuse fever Rickettsia japonica Japanese spotted fever Rickettsia sibirica North Asian tick typhus Rickettsia australis Queensland tick typhus Rickettsia honei Flinders Island spotted fever Rickettsia africae African tick bite fever Rickettsia parkeri American tick bite fever Rickettsia aeschlimannii Rickettsia aeschlimannii infection Mite-borne Rickettsia akari Rickettsialpox Orientia tsutsugamushi Scrub typhus Flea-borne Rickettsia felis Flea-borne spotted fever Anaplasmataceae Ehrlichiosis : Anaplasma phagocytophilum Human granulocytic anaplasmosis , Anaplasmosis Ehrlichia chaffeensis Human monocytotropic ehrlichiosis Ehrlichia ewingii Ehrlichiosis ewingii infection Rhizobiales Brucellaceae Brucella abortus Brucellosis Bartonellaceae Bartonellosis : Bartonella henselae Cat-scratch disease Bartonella quintana Trench fever Either B. henselae or B. quintana Bacillary angiomatosis Bartonella bacilliformis Carrion's disease , Verruga peruana β Neisseriales M+ Neisseria meningitidis/meningococcus Meningococcal disease , Waterhouse–Friderichsen syndrome , Meningococcal septicaemia M− Neisseria gonorrhoeae/gonococcus Gonorrhea ungrouped: Eikenella corrodens / Kingella kingae HACEK Chromobacterium violaceum Chromobacteriosis infection Burkholderiales Burkholderia pseudomallei Melioidosis Burkholderia mallei Glanders Burkholderia cepacia complex Bordetella pertussis / Bordetella parapertussis Pertussis γ Enterobacteriales ( OX− ) Lac+ Klebsiella pneumoniae Rhinoscleroma , Pneumonia Klebsiella granulomatis Granuloma inguinale Klebsiella oxytoca Escherichia coli : Enterotoxigenic Enteroinvasive Enterohemorrhagic O157:H7 O104:H4 Hemolytic-uremic syndrome Enterobacter aerogenes / Enterobacter cloacae Slow/weak Serratia marcescens Serratia infection Citrobacter koseri / Citrobacter freundii Lac− H2S+ Salmonella enterica Typhoid fever , Paratyphoid fever , Salmonellosis H2S− Shigella dysenteriae / sonnei / flexneri / boydii Shigellosis , Bacillary dysentery Proteus mirabilis / Proteus vulgaris Yersinia pestis Plague / Bubonic plague Yersinia enterocolitica Yersiniosis Yersinia pseudotuberculosis Far East scarlet-like fever Pasteurellales Haemophilus : H. influenzae Haemophilus meningitis Brazilian purpuric fever H. ducreyi Chancroid H. parainfluenzae HACEK Pasteurella multocida Pasteurellosis Actinobacillus Actinobacillosis Aggregatibacter actinomycetemcomitans HACEK Legionellales Legionella pneumophila / Legionella longbeachae Legionnaires' disease Coxiella burnetii Q fever Thiotrichales Francisella tularensis Tularemia Vibrionaceae Vibrio cholerae Cholera Vibrio vulnificus Vibrio parahaemolyticus Vibrio alginolyticus Plesiomonas shigelloides Pseudomonadales Pseudomonas aeruginosa Pseudomonas infection Moraxella catarrhalis Acinetobacter baumannii Xanthomonadaceae Stenotrophomonas maltophilia Cardiobacteriaceae Cardiobacterium hominis HACEK Aeromonadales Aeromonas hydrophila / Aeromonas veronii Aeromonas infection ε Campylobacterales Campylobacter jejuni Campylobacteriosis , Guillain–Barré syndrome Helicobacter pylori Peptic ulcer , MALT lymphoma , Gastric cancer Helicobacter cinaedi Helicobacter cellulitis
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Pterygium (Conjunctiva)
Wikipedia
CS1 maint: multiple names: authors list ( link ) External links [ edit ] Media related to pterygium at Wikimedia Commons Pterygium eMedicine WebMD online article on pterygium (overview, differential diagnoses & workup, treatment & medication, and follow-up) Classification D ICD - 10 : H11.0 ICD - 9-CM : 372.4 MeSH : D011625 DiseasesDB : 10916 External resources MedlinePlus : 001011 eMedicine : oph/542 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 OnchocerciasisBICD2, IFNA2, MIR122, BCL2L2, PLOD2, MMP2, RAPSN, PSAT1, NOP10, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, TP53, PHGDH, MMP14, VEGFA, XPA, XPC, ITGB4, GPC6, ITGA6, NHP2, DKC1, MYOD1, PTPN11, NUP88, MUSK, DOK7, FKBP10, IRF6, TGFB1, GSTM1, SMN1, CD34, S100A9, VEGFC, POSTN, TNF, PTGS2, SMN2, MDM2, RIPK4, MMP1, CYP1A1, PRDX2, ELN, OGG1, MMP9, S100A8, MMP10, PTEN, MAPK1, XRCC1, CXCR4, PECAM1, KDR, TRPV1, MMP3, LDLR, PLAU, CXCL12, PPP1R12A, CXCL8, H3P10, FN1, BCL2, MIR200A, CTNNB1, EGFR, CHRNG, CDKN2A, MIR145, HIF1A, POU5F1P4, S100A1, MIR200C, MTCO2P12, ZEB1, MIR21, MIR215, CERNA3, TCF4, TAZ, SPRR3, SPARC, MIR3175, MIR221, MIR29B1, ST3GAL3, TRPV3, S100A6, MIR29B2, SAT1, S100B, MIR429, S100A11, POU5F1P3, MBTPS1, TRPV4, TERT, MPRIP, SEMA7A, AIMP2, RYR1, IPO13, ZEB2, RAD50, FBLN5, AHSA1, PDPN, LYVE1, CKAP4, VIM, RNF19A, TP63, VDR, UVRAG, TWIST1, POLDIP2, TNFRSF1A, CTNNA3, ANGPTL4, CRIM1, WWOX, TIMP2, LAPTM4B, MEPE, GRAP2, ACTB, RPE65, FGFR3, ACE, DNMT3B, HBEGF, EGF, EPHB2, FBN1, EFEMP1, FGF2, FLT1, GSTT1, FOS, FOSB, MTOR, G6PD, XRCC6, GABPA, GHRH, GHRHR, CYP4B1, CTNNA1, CTLA4, CCN2, ALDH3A1, ANG, APEX1, ATRX, CASP3, CDH1, CDKN1B, CGA, CHI3L1, CLU, CNTF, COL1A2, COL3A1, COL4A1, CLDN4, CRK, MAPK14, GSTM2, ICAM2, RAD51, PIK3CA, MSH2, COX2, MYC, NFE2L2, PRDX1, AKT1, PCYT1A, PDGFRA, PIK3CB, ICAM3, PIK3CD, PIK3CG, PLD1, PLK1, PLXNA2, PMAIP1, POU5F1, PSMB5, MMP8, MLH1, MBS1, MATN3, IGFBP2, IGFBP3, IGFBP7, IL1R1, IL1RN, IL4, IL6, JUN, JUNB, JUND, KRT4, KRT12, KRT17, LOX, LOXL1, LRP1, SMAD7, PCNA
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Neonatal Sepsis
Wikipedia
"Sample asymmetry analysis of heart rate characteristics with application to neonatal sepsis and systemic inflammatory response syndrome" . Pediatric Research . 54 (6): 892–898. doi : 10.1203/01.PDR.0000088074.97781.4F . ... External links [ edit ] Classification D ICD - 10 : P36 ICD - 9-CM : 771.81 MeSH : D000071074 External resources MedlinePlus : 007303 eMedicine : article/978352 v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal v t e Vertically transmitted infections Gestational Viruses Congenital rubella syndrome Congenital cytomegalovirus infection Neonatal herpes simplex Hepatitis B Congenital varicella syndrome HIV Fifth disease Bacteria Congenital syphilis Other Toxoplasmosis transplacental TORCH complex During birth transcervical Candidiasis Gonorrhea Listeriosis Late pregnancy Listeriosis Congenital cytomegalovirus infection By breastfeeding Breastfeeding Tuberculosis HIVSERAC1, CRP, ZMPSTE24, IL7R, COG4, IL6, FCGR1A, MBL2, IL10, MFGE8, TNF, VDR, RETN, RIPK3, PART1, MBL3P, GDE1, IL17D, MYDGF, CD14, HAMP, ZNF410, NOD2, HDAC6, BCL11B, IL33, IL27, MIR150, MIR15A, MIR300, NAMPT, TLR4, EOS, PRKAA1, MAPK14, CSF2, CSF3, EGF, IL1A, IL4, LAMC2, PIK3CA, PRKAA2, CXCR4, PRKAB1, PRSS1, S100A1, S100A12, S100B, CXCL12, ST14, CIRBP, MIR1290
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Hyperphalangy
Orphanet
Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb.
- Mesocardia Orphanet
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Pancytopenia Due To Ikzf1 Mutations
Orphanet
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
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Craniorhiny
Orphanet
A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmertical nasolabial cysts on upper lip.
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Congenital Achiasma
Orphanet
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.
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Isolated Partial Vaginal Agenesis
Orphanet
A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm.
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Syndactyly Type 3
Orphanet
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers.