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Nephrotic Syndrome, Type 17
Omim
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 17 (NPHS17) is caused by homozygous or compound heterozygous mutation in the NUP85 gene (170285) on chromosome 17q25. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). Clinical Features Braun et al. (2018) reported 4 patients from 3 unrelated families who presented between 4 and 11 years of age with steroid-resistant nephrotic syndrome and microscopic hematuria. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature (in some patients) GENITOURINARY Kidneys - Steroid-resistant nephrotic syndrome - Focal segmental glomerulosclerosis - End-stage renal disease NEUROLOGIC Central Nervous System - Impaired intellectual development (1 family) LABORATORY ABNORMALITIES - Microscopic hematuria - Proteinuria MISCELLANEOUS - Onset in the first decade - Progressive disorder - Four patients from 3 unrelated families have been reported (last curated November 2018) MOLECULAR BASIS - Caused by mutation in the nucleoporin, 85-kD gene (NUP85, 170285.0001 ) ▲ Close
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Chromosome 19q13.11 Deletion Syndrome, Proximal
Omim
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 19q13.11. One patient carried a deletion (chr19:31,765,881-31,812,396, GRCh37) which spanned only the TSHZ3 gene (614119). See also distal chromosome 19q13.11 deletion syndrome (613026), which shows some phenotypic overlap. Description Proximal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability with poor speech, feeding difficulties, and autistic features. ... The phenotype could be distinguished from that observed in distal chromosome 19q13.11 deletion syndrome. Cytogenetics Chowdhury et al. (2014) reported 3 unrelated patients with de novo heterozygous deletions involving chromosome 19q12-q31.1 that were proximal to the smallest region of overlap described for chromosome 19q13.11 deletion syndrome. ... INHERITANCE - Autosomal dominant GROWTH Other - Postnatal growth retardation HEAD & NECK Face - Dysmorphic features, nonspecific (in some patients) ABDOMEN Gastrointestinal - Feeding difficulties - Pyloric stenosis GENITOURINARY Kidneys - Renal tract abnormalities, variable - Pyelocalyceal dilatation - Nephrolithiasis Ureters - Hydroureter Bladder - Vesicoureteral reflux SKELETAL Pelvis - Hip dysplasia Hands - Tapered fingers - Fifth finger clinodactyly Feet - Clubfoot MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Delayed development - Intellectual disability - Poor or absent speech - Seizures (rare) Behavioral Psychiatric Manifestations - Autistic features LABORATORY ABNORMALITIES - Minimal overlapping critical region for deletion 19:31,765,881-31,812,396 (Hg19)found in 1 patient MISCELLANEOUS - Contiguous gene deletion syndrome - Most deletions occur de novo - Incomplete penetrance (some deletions inherited from unaffected parent) - Variable features MOLECULAR BASIS - Contiguous gene syndrome caused by 50-kb deletion of proximal 19q13.11 ▲ Close
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Microangiopathic Hemolytic Anemia
Wikipedia
Contents 1 Signs and symptoms 2 Causes 3 Pathophysiology 4 Diagnosis 5 Treatment 6 References 7 External links Signs and symptoms [ edit ] In diseases such as hemolytic uremic syndrome , disseminated intravascular coagulation , thrombotic thrombocytopenic purpura , and malignant hypertension, the endothelial layer of small vessels is damaged with resulting fibrin deposition and platelet aggregation. ... Automated analysers (the machines that perform routine full blood counts in most hospitals) are designed to flag blood specimens that contain abnormal amounts of red blood cell fragments or schistocytes . [2] Causes [ edit ] Disseminated intravascular coagulation HELLP syndrome Thrombotic thrombocytopenic purpura - hemolytic uremic syndrome Cancer Malignant hypertension Scleroderma renal crisis Malfunctioning cardiac valves (called the "Waring Blender syndrome") Kasabach–Merritt syndrome Insertion of foreign bodies Drugs (e.g. cancer chemotherapy ) others diseases: eclampsia , renal allograft rejection, paroxysmal nocturnal hemoglobinuria , scleroderma , and vasculitides such as polyarteritis nodosa and granulomatosis with polyangiitis , antiphospholipid syndrome Pathophysiology [ edit ] In all causes, the mechanism of MAHA is the formation of a fibrin mesh due to increased activation of the system of coagulation . ... The differential diagnoses are rifampicin or probenecid use, inherited disorders like Gilbert's syndrome and other hemolytic disorders. ... External links [ edit ] Classification D ICD - 10 : D59.4 ICD - 9-CM : 283.19 DiseasesDB : 29721 v t e Diseases of red blood cells ↑ Polycythemia Polycythemia vera ↓ Anemia Nutritional Micro- : Iron-deficiency anemia Plummer–Vinson syndrome Macro- : Megaloblastic anemia Pernicious anemia Hemolytic (mostly normo- ) Hereditary enzymopathy : Glucose-6-phosphate dehydrogenase deficiency glycolysis pyruvate kinase deficiency triosephosphate isomerase deficiency hexokinase deficiency hemoglobinopathy : Thalassemia alpha beta delta Sickle cell disease / trait Hereditary persistence of fetal hemoglobin membrane : Hereditary spherocytosis Minkowski–Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis Acquired AIHA Warm antibody autoimmune hemolytic anemia Cold agglutinin disease Donath–Landsteiner hemolytic anemia Paroxysmal cold hemoglobinuria Mixed autoimmune hemolytic anemia membrane paroxysmal nocturnal hemoglobinuria Microangiopathic hemolytic anemia Thrombotic microangiopathy Hemolytic–uremic syndrome Drug-induced autoimmune Drug-induced nonautoimmune Hemolytic disease of the newborn Aplastic (mostly normo- ) Hereditary : Fanconi anemia Diamond–Blackfan anemia Acquired: Pure red cell aplasia Sideroblastic anemia Myelophthisic Blood tests Mean corpuscular volume normocytic microcytic macrocytic Mean corpuscular hemoglobin concentration normochromic hypochromic Other Methemoglobinemia Sulfhemoglobinemia Reticulocytopenia This cardiovascular system article is a stub .
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Geniculate Ganglionitis
Wikipedia
Find sources: "Geniculate ganglionitis" – news · newspapers · books · scholar · JSTOR ( December 2016 ) ( Learn how and when to remove this template message ) Geniculate neuralgia Specialty Neurology Geniculate ganglionitis or geniculate neuralgia (GN), also called nervus intermedius neuralgia, Ramsay Hunt syndrome, or Hunt's neuralgia , is a rare disorder characterized by severe paroxysmal neuralgic pain deep in the ear , [1] that may spread to the ear canal, outer ear, mastoid or eye regions. ... GN may also develop following herpes zoster oticus ( Ramsay Hunt syndrome ), where cold sores occur on the ear drum or ear. ... External links [ edit ] Classification D ICD - 10 : G51.1 ICD - 9-CM : 351.1 v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome
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Finger Agnosia
Wikipedia
Finger agnosia , first defined in 1924 by Josef Gerstmann , is the loss in the ability to distinguish, name, or recognize the fingers—not only the patient's own fingers, but also the fingers of others, and drawings and other representations of fingers. [1] It is one of a tetrad of symptoms in Gerstmann syndrome , although it is also possible for finger agnosia to exist on its own without any other disorders . [2] Usually, lesions to the left angular gyrus and posterior parietal areas can lead to finger agnosia. [3] [4] [5] [6] [7] Contents 1 Causes 2 Attributes 3 Without Gerstmann syndrome 4 Acalculia 5 Treatment and prognosis 6 References Causes [ edit ] Lesions to the left angular gyrus are associated with finger agnosia, as well as the other symptoms of Gerstmann Syndrome, also known as Angular Gyrus Syndrome. ... When their own hand is out of sight and they are asked to name a finger that was touched, they are unable to do so and perform at chance. Without Gerstmann syndrome [ edit ] Although it is a necessary component of Gerstmann's syndrome , cases of finger agnosia alone have been reported. ... References [ edit ] ^ Ardila, A, Mauricio, C,. Rosselli, M. Angular Gyrus Syndrome revisited: Acalculia, Finger Agnosia, Right-left Disorientation and Semantic Aphasia. ... Neuropsychologia 43 (2005): 1609–624. ^ Gerstmann, J. Syndrome of Finger Agnosia, disorientation for right and left, Agraphia, and Acalculia. ... Archives of Neurology 51.5 (1994): 448–50. ^ Gerstmann, J. Syndrome of Finger Agnosia, disorientation for right and left, Agraphia, and Acalculia.
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Luscan-Lumish Syndrome
Omim
A number sign (#) is used with this entry because of evidence that Luscan-Lumish syndrome (LLS) is caused by heterozygous mutation in the SETD2 gene (612778) on chromosome 3p21. Description Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. ... Inheritance The inheritance pattern of Luscan-Lumish syndrome is autosomal dominant (Luscan et al., 2014; Lumish et al., 2015). ... Luscan et al. (2014) analyzed the coding sequences of 14 H3K27 methylation-related genes and 8 H3K36 methylation-related genes using a targeted next-generation sequencing approach in 3 Sotos (see 117550), 11 'Sotos-like,' and 2 Weaver (277590) syndrome patients and identified heterozygous mutations in the SETD2 gene in 2 patients with a 'Sotos-like' syndrome (612778.0002 and 612778.0003). ... By whole-exome sequencing in a 17-year-old girl with Luscan-Lumish syndrome, Lumish et al. (2015) identified a heterozygous de novo frameshift mutation (612778.0004) in the SETD2 gene.
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Cycloplegia
Wikipedia
Usually the ones used by ophthalmologists or optometrists wear off in hours, but when the patient leaves the office strong sunglasses are provided for comfort. See also [ edit ] Adie syndrome Anisocoria Marcus Gunn pupil Miosis Parinaud's syndrome Syphilis References [ edit ] ^ " cycloplegia " at Dorland's Medical Dictionary External links [ edit ] Classification D ICD - 10 : H52.5 ICD - 9-CM : 367.51 DiseasesDB : 17379 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 Ophthalmologicals : mydriasis and cycloplegia ( S01F ) Anticholinergics / antimuscarinics Atropine Scopolamine Methylscopolamine Cyclopentolate Homatropine Tropicamide Sympathomimetics Phenylephrine ( +ketorolac ) Ephedrine Ibopamine
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Junctional Tachycardia
Wikipedia
Contents 1 Cause 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Cause [ edit ] It can be associated with digitalis toxicity. [3] It may also be due to onset of acute coronary syndrome , heart failure , conduction system diseases with enhanced automaticity , or administration of theophylline . [4] Diagnosis [ edit ] On an EKG, junctional tachycardia exhibits the following classic criteria: [2] P-Waves: The p-wave may be inverted in leads II, III and aVF or may not be visible Narrow QRS complexes (which is consistent with arrhythmias that conduct through the ventricles using the His-Purkinje system and often originate from the atria or AV junction.) ... External links [ edit ] Classification D ICD - 10 : I47.1 ICD - 9-CM : xxx 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 This article about a medical condition affecting the circulatory system is a stub .
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Band Keratopathy
Wikipedia
These causes include uveitis , interstitial keratitis , superficial keratitis , phthisis , sarcoidosis , trauma, intraocular silicone oil, systemic diseases ( high levels of calcium in the blood , vitamin D intoxication , Fanconi's Syndrome , low levels of phosphorus in the blood , gout , milk-alkali syndrome , myotonic dystrophy , and chronic mercury exposure). [ citation needed ] Pathology [ edit ] Band keratopathy is seen when there is calcification of the epithelial basement membrane , Bowman's membrane , and the anterior stroma with destruction of Bowman's membrane. ... Retrieved 2007-07-29 . ^ eMedicine External links [ edit ] Classification D ICD - 10 : H18.4 ICD - 9-CM : 371.43 MeSH : C562399 C562399, C562399 DiseasesDB : 31296 External resources eMedicine : oph/105 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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Lymphoproliferative Syndrome 1
Omim
A number sign (#) is used with this entry because of evidence that lymphoproliferative syndrome-1 (LPFS1) is caused by homozygous mutation in the ITK gene (186973) on chromosome 5q33. Description Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. ... Huck et al. (2009) noted the phenotypic similarities to the X-linked lymphoproliferative syndromes observed in boys. Stepensky et al. (2011) reported a consanguineous Arab family in which 3 patients presented between ages 3 and 5 years with fever, lymphadenopathy, and Hodgkin lymphoma associated with EBV infection. ... Molecular Genetics By linkage analysis, followed by candidate gene sequencing, Huck et al. (2009) identified a homozygous mutation in the ITK gene (R335W; 186973.0001) in 2 Turkish sisters with fatal EBV-associated lymphoproliferative syndrome. In 3 members of a consanguineous Arab family with lymphoproliferative syndrome-1, Stepensky et al. (2011) identified a homozygous truncating mutation in the ITK gene (Y588X; 186973.0002). ... In a patient, born of consanguineous Moroccan parents, with lymphoproliferative syndrome-1, Linka et al. (2012) identified a homozygous missense mutation in the ITK gene (R29H; 186973.0003).
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Pancreatic Abscess
Wikipedia
. ^ Pancreatic abscess~diagnosis at eMedicine ^ Pancreatic abscess~treatment at eMedicine External links [ edit ] Classification D ICD - 10 : K85 ICD - 9-CM : 577.0 External resources MedlinePlus : 000270 eMedicine : article/181264 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 Pneumoperitoneum
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Chromosome 6pter-P24 Deletion Syndrome
Omim
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. See also Axenfeld-Rieger syndrome type 3 (RIEG3; 602482), which shows phenotypic overlap with chromosome 6pter-p24 deletion syndrome, and branchiooculofacial syndrome (BOFS; 113620), caused by mutation or deletion of the TFAP2A gene (107580) on chromosome 6p24.3, centromeric to the deletion interval. ... There was considerable phenotypic overlap with 3C syndrome (220210). Maclean et al. (2005) stated that 12 cases had been reported of a distinctive clinical phenotype associated with deletion of distal chromosome 6p, the features of which included Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. ... Of note, DeScipio et al. (2005) did not identify deletions of 6p in 7 additional unrelated patients with 3C syndrome. Molecular Genetics Aldinger et al. (2009) analyzed brain imaging studies in 18 individuals with chromosome 6p25 copy number variation involving the FOXC1 gene and 3 patients with intragenic mutations of FOXC1, all of whom had previously been reported by Pearce et al. (1982, 1983); Gould et al. (1997); Mears et al. (1998); Nishimura et al. (1998); Lehmann et al. (2000); DeScipio et al. (2005); Lin et al. (2005); Maclean et al. (2005); Chanda et al. (2008), with phenotypes of anterior segment dysgenesis (ASGD3; 601631), Axenfeld-Rieger syndrome type 3 (RIEG3; 602482), cardiac malformations, and/or brain anomalies, particularly Dandy-Walker malformation. ... In 3 patients from 2 families with missense mutations in FOXC1 resulting in Axenfeld anomaly (601090.0003) and Axenfeld-Rieger syndrome type 3 (601090.0008), respectively, Aldinger et al. (2009) observed mild CVH and an abnormal white matter signal corresponding to prominent perivascular spaces; the authors concluded that alteration of FOXC1 function alone can cause CVH and contributes to MCM and DWM. INHERITANCE - Isolated cases HEAD & NECK Head - Broad forehead - Frontal bossing - Brachycephaly Face - Midface hypoplasia Ears - Low-set ears - Posteriorly rotated ears - Sensorineural hearing loss Eyes - Hypertelorism - Downslanting palpebral fissures - Epicanthal folds - Strabismus - Hyperopia - Exotropia - Anterior eye defects - Anterior chamber dysgenesis - Axenfeld anomaly - Posterior embryotoxon - Corneal opacities - Refractive errors Nose - Flat nasal bridge - Depressed nasal bridge Mouth - High-arched palate - Cleft lip - Tented mouth Teeth - Abnormally shaped teeth - Overcrowded teeth - Decreased enamel Neck - Short neck CARDIOVASCULAR Heart - Patent foramen ovale - Atrial septal defect - Valvular defects - Tetralogy of Fallot (reported in 1 patient) Vascular - Patent ductus arteriosus SKELETAL Pelvis - Hip dysplasia (reported in 2 patients) Feet - Rocker-bottom feet (reported in 2 patients) NEUROLOGIC Central Nervous System - Developmental delay - Delayed motor development - Language delay - Mental retardation - Learning difficulties - Hypotonia - Dandy-Walker malformation - Seizures (reported in 2 patients) MISCELLANEOUS - Variable phenotype - Contiguous gene deletion syndrome at chromosome 6p MOLECULAR BASIS - Contiguous gene syndrome caused by deletion (minimum 1.3Mb) of chromosome 6pter-p24 ▲ Close
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Brachycephaly
Wikipedia
In humans, the cephalic disorder is known as flat head syndrome , and results from premature fusion of the coronal sutures, or from external deformation . ... This feature can be seen in Down syndrome . In anthropology, human populations have been characterized as either dolichocephalic (long headed), mesaticephalic (moderate headed), or brachycephalic (short headed). ... The Back to Sleep campaign began in 1994 as a way to educate parents about ways to reduce the risk for sudden infant death syndrome (SIDS). The campaign was named for its recommendation to place healthy babies on their backs to sleep. ... PMID 12837890 . ^ "Plagiocephaly and brachycephaly (flat head syndrome)" . NHS . 13 February 2012. ^ Matthew L. ... External links [ edit ] NINDS - Cephalic Disorders Overview Brachycephalic Official Website Classification D ICD - 9-CM : 756.0 DiseasesDB : 29893 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatumTCF12, TWIST1, ZIC1, FGFR3, FGFR2, ERF, EFNB1, FGFR1, ALX4, BMP2, EZH2, NELL1, WDR35, BBS9, SMAD6, IFT122, FREM1, TRAPPC9, PHF21A, WAC, ZDHHC9, ACOX1, TDP2, NBAS, PIGT, OTUD6B, PTRH2, SUFU, RAB23, NANS, RNF216, TMCO1, POLR1D, PCLO, SLC25A24, DSE, KDM1A, IQSEC2, POGZ, SATB2, SPECC1L, MED13L, ADNP, TNFRSF13B, RAB3GAP2, NIPBL, SETBP1, CNTNAP2, AUTS2, ZBTB20, B3GAT3, INTU, PGAP2, CHD7, ICOS, SETD5, CCDC47, PIGV, PIGO, UBE3B, ADAMTSL1, PGAP3, NACC1, CHST14, TNFRSF13C, TTC8, AMER1, B3GLCT, ESCO2, SPATA5, TAPT1, TUBB, STAC3, NALCN, PIGW, UNC80, PIGY, LAS1L, NGLY1, ADAMTS10, MBD5, HDAC8, CYP26B1, RAB3GAP1, THAP11, TBC1D24, ARID1B, ZSWIM6, FKBP10, PRDM16, UPF3B, SRD5A3, TBL1XR1, ALG9, EHMT1, ALG13, CENPT, RAB18, HUWE1, PNPLA6, LRP5, GABRD, GATA1, GJA1, GRIA3, HCFC1, HNRNPK, HSPA9, LIG4, MAF, RAI1, MECP2, MGAT2, KMT2A, MMP2, MMP14, NFKB1, NFKB2, PDE4D, FUCA1, FLII, FKTN, FBN2, AGA, ATIC, RERE, ATP7A, ATRX, BRAF, BUB1B, RUNX2, CD19, MS4A1, CD81, CDH11, COL11A1, CR2, CTSK, EXT2, FBN1, POR, PRKAR1A, PRKCD, PTCH1, SMC1A, KCNAB2, PTCH2, TNFSF12, SMC3, NRXN1, CHST3, PIGL, MPDU1, POLR1C, TECPR2, WASHC5, RBM8A, MED12, SLC12A6, ADSL, PQBP1, IRX5, DEAF1, USP9X, ALX1, PCGF2, XRCC4, PTH1R, PTPN11, ALDH18A1, RAD21, RAF1, RMRP, SCN8A, SIM1, SKI, SMS, SOS1, TBX2, TCF4, TCF20, TCOF1, UBE3A, CTU2, SMOC2, MFAP4
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Cervical Rib
Wikipedia
On imaging, cervical ribs can be distinguished because their transverse processes are directed inferolaterally, whereas those of the adjacent thoracic spine are directed anterolaterally . [10] Associated conditions [ edit ] The presence of a cervical rib can cause a form of thoracic outlet syndrome due to compression of the lower trunk of the brachial plexus or subclavian artery . [6] These structures become encroached upon by the cervical rib and scalene muscles . ... Compression of the sympathetic chain may cause Horner's syndrome . Other animals [ edit ] Many vertebrates, especially reptiles , have cervical ribs as a normal part of their anatomy rather than a pathological condition. ... Lippencott & Williams. ^ a b Rochkind, Shimon; Zager, Eric (2012-01-01), Quiñones-Hinojosa, Alfredo (ed.), "Chapter 205 - Management of Thoracic Outlet Syndrome" , Schmidek and Sweet Operative Neurosurgical Techniques (Sixth Edition) , Philadelphia: W.B. ... (ed.), "Case 67 - Cervical ribs" , 100 Challenging Spinal Pain Syndrome Cases (Second Edition) , Edinburgh: Churchill Livingstone, pp. 311–314, doi : 10.1016/b978-0-443-06716-7.00067-0 , ISBN 978-0-443-06716-7 , retrieved 2020-10-23 ^ a b Tani, Edneia M.; Skoog, Lambert (2008-01-01), Bibbo, Marluce; Wilbur, David (eds.), "CHAPTER 22 - Salivary Glands and Rare Head and Neck Lesions" , Comprehensive Cytopathology (Third Edition) , Edinburgh: W.B. ... ISBN 978-1853157547 . ^ Woolly Mammoths Suffered Major Birth Defects Before Extinction External links [ edit ] Classification D ICD - 10 : Q76.5 ICD - 9-CM : 756.2 OMIM : 117900 MeSH : D057070 DiseasesDB : 2317 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
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Biliary Dyskinesia
Wikipedia
External links [ edit ] Classification D ICD - 10 : K82.8 ICD - 9-CM : 575.8 MeSH : D001657 DiseasesDB : 12297 External resources eMedicine : med/347 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 Pneumoperitoneum
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Sinus Bradycardia
Wikipedia
In terms of pathophysiological diseases, sinus rhythm may be caused by: Diseases/Conditions: Acute myocardial infarction , carotid sinus syndrome , eating disorders (such as anorexia nervosa ) rhodotoxin poisoning, hypothermia , hypothyroidism , infections (such as diphtheria , acute rheumatic fever , or viral myocarditis ), intrinsic disease of the SA node (such as sick sinus syndrome ), Roemheld syndrome , sleep apnea Physiological causes: Increased vagal tone , increased intracranial pressure Medications, most commonly: digitalis glycosides , beta-blockers , quinidine , adenosine , calcium channel blockers , class I antiarrhythmic agents , ivabradine , clonidine, reserpine, cimetidine, lithium, amitriptyline Diagnosis [ edit ] Diagnosis of sinus bradycardia can be confirmed by an electrocardiogram that shows the following characteristics: [1] Rate: Less than 60 beats per minute. ... Any recent changes to patient's medication history, new symptoms such as chest pain, shortness of breath and palpitations, family history of sinus bradycardia, physical exam that reveals cyanosis, peripheral edema, altered mental status, dyspnea, rales and crackles are all relevant information to consider for differential diagnosis. [1] See also [ edit ] Sinus tachycardia Long QT syndrome References [ edit ] ^ a b c d Hafeez Y, Grossman SA (2020). ... External links [ edit ] Classification D ICD - 10 : R00.1 ICD - 9-CM : 427.81 MeSH : D001146 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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Battered Woman Syndrome
Wikipedia
Therefore, the term used is BWS rather than a gender-neutral battered person syndrome (BPS) or even battered man syndrome (BMS). ... Kathleen Weiand shot and killed her husband Todd. She used the battered woman syndrome in her defense and the defense expert agreed that she was suffering from the syndrome. ... "Critique of the 'Battered Woman Syndrome' Model" . aaets.org . Retrieved 2011-05-13 . ^ Downs, Donald A. "Battered Woman Syndrome: Tool of Justice or False Hope in Defense Cases?" ... G. & Painter, S. (1993) "The battered woman syndrome: effects of severity and intermittency of abuse".
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Scn1a Seizure Disorders
Gene_reviews
Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. ... Dravet syndrome. Wirrell et al [2017] published guidelines for the clinical diagnosis of Dravet syndrome. ... Individuals with Dravet syndrome often develop a crouched gait. ... In one cohort, 5/10 adults with Dravet syndrome had crouched gait [Rilstone et al 2012]. ... Although isolated myoclonic seizures as well as tonic seizures can occur, they are not characteristic of this syndrome (which distinguishes them from Lennox-Gastaut syndrome).
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Burning Mouth Syndrome
Wikipedia
Sjögren's syndrome Parafunctional activity, e.g. nocturnal bruxism or a tongue thrusting habit. ... "Developing a Research Diagnostic Criteria for Burning Mouth Syndrome: Results from an International Delphi Process" . ... "Separating oral burning from burning mouth syndrome: unravelling a diagnostic enigma" . ... PMID 29696421 . ^ "Burning mouth syndrome" (PDF) . Retrieved 1 February 2019 . ^ Charleston L, 4th (June 2013). "Burning mouth syndrome: a review of recent literature".
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Ectrodactyly
Wikipedia
When 7q is altered by a deletion or a translocation ectrodactyly can sometimes be associated with hearing loss. [8] Ectrodactyly, or Split hand/split foot malformation (SHFM) type 1 is the only form of split hand/ malformation associated with sensorineural hearing loss. [8] Genetics [ edit ] Syndrome Ectrodactyly–ectodermal dysplasia–cleft syndrome Split-Hand-Foot Malformation Syndrome Silver–Russell syndrome Cornelia de Lange syndrome Acrorenal syndrome Focal dermal hypoplasia Ectrodactyly and cleft palate syndrome Ectrodactyly/mandibulofacial dysostosis Ectrodactyly and macular dystrophy A large number of human gene defects can cause ectrodactyly. ... Detailed studies of a number of mouse models for ectrodactyly have also revealed that a failure to maintain median apical ectodermal ridge (AER) signalling can be the main pathogenic mechanism in triggering this abnormality. [9] A number of factors make the identification of the genetic defects underlying human ectrodactyly a complicated process: the limited number of families linked to each split hand/foot malformation (SHFM) locus, the large number of morphogens involved in limb development, the complex interactions between these morphogens, the involvement of modifier genes, and the presumed involvement of multiple gene or long-range regulatory elements in some cases of ectrodactyly. [9] In the clinical setting these genetic characteristics can become problematic and making predictions of carrier status and severity of the disease impossible to predict. [10] In 2011, a novel mutation in DLX5 was found to be involved in SHFM. [11] Ectrodactyly is frequently seen with other congenital anomalies. [9] Syndromes in which ectrodactyly is associated with other abnormalities can occur when two or more genes are affected by a chromosomal rearrangement. [9] Disorders associated with ectrodactyly include Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome , which is closely correlated to the ADULT syndrome and Limb-mammary (LMS) syndrome, Ectrodactyly-Cleft Palate (ECP) syndrome, Ectrodactyly-Ectodermal Dysplasia-Macular Dystrophy syndrome , Ectrodactyly-Fibular Aplasia/Hypoplasia (EFA) syndrome, and Ectrodactyly-Polydactyly. ... However, the genetic causes of cleft hand related to syndromes have more clarity. [13] The identified mutation for SHSF syndrome (split-hand/split-foot syndrome) a duplication on 10q24, and not a mutation of the tp63 gene as in families affected by EEC syndrome (ectrodactyly–ectodermal dysplasia–cleft syndrome). [13] The p63 gene plays a critical role in the development of the apical ectodermal ridge (AER), this was found in mutant mice with dactylaplasia. [6] Embryology [ edit ] Some studies [13] [14] [15] have postulated that polydactyly, syndactyly and cleft hand have the same teratogenic mechanism. ... "Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child". American Journal of Medical Genetics Part A . 63 (3): 479–81. doi : 10.1002/(SICI)1096-8628(19960614)63:3<479::AID-AJMG12>3.0.CO;2-J . ... External links [ edit ] Online Mendelian Inheritance in Man (OMIM): 183600 Online Mendelian Inheritance in Man (OMIM): 183800 Classification D ICD - 10 : Q71.6 ICD - 9-CM : 755.4 OMIM : 225300 MeSH : C574275 DiseasesDB : 32141 Wikimedia Commons has media related to Ectrodactyly . v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum