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Enchondroma
Wikipedia
Ollier disease is very rare. Maffucci's syndrome - a combination of multiple tumors and angiomas (benign tumors made up of blood vessels). ... External links [ edit ] Enchondroma Radiology Classification D ICD-O : 9220/0 MeSH : D002812 DiseasesDB : 33380 External resources eMedicine : article/389224 v t e Tumours of bone and cartilage Diaphysis Multiple myeloma Epithelia Adamantinoma Primitive neuroectodermal tumor Ewing family Ewing's sarcoma Metaphysis Osteoblast Osteoid osteoma Osteoblastoma Osteoma / osteosarcoma Chondroblast Chondroma / ecchondroma / enchondroma Enchondromatosis Extraskeletal chondroma Chondrosarcoma Mesenchymal chondrosarcoma Myxoid chondrosarcoma Osteochondroma Osteochondromatosis Chondromyxoid fibroma Fibrous Ossifying fibroma Fibrosarcoma Epiphysis Chondroblast Chondroblastoma Myeloid Giant-cell tumor of bone Other Notochord Chordoma v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis
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Arthus Reaction
Wikipedia
External links [ edit ] Classification D ICD - 10 : T78.4 ICD - 9-CM : 995.21 MeSH : D001183 DiseasesDB : 33220 v t e Consequences of external causes Temperature Elevated Hyperthermia Heat syncope Reduced Hypothermia Immersion foot syndromes Trench foot Tropical immersion foot Warm water immersion foot Chilblains Frostbite Aerosol burn Cold intolerance Acrocyanosis Erythrocyanosis crurum Radiation Radiation poisoning Radiation burn Chronic radiation keratosis Eosinophilic, polymorphic, and pruritic eruption associated with radiotherapy Radiation acne Radiation-induced cancer Radiation recall reaction Radiation-induced erythema multiforme Radiation-induced hypertrophic scar Radiation-induced keloid Radiation-induced morphea Air Hypoxia / Asphyxia Barotrauma Aerosinusitis Decompression sickness High altitude Altitude sickness Chronic mountain sickness Death zone HAPE HACE Food Starvation Maltreatment Physical abuse Sexual abuse Psychological abuse Travel Motion sickness Seasickness Airsickness Space adaptation syndrome Adverse effect Hypersensitivity Anaphylaxis Angioedema Allergy Arthus reaction Adverse drug reaction Other Electrical injury Drowning Lightning injuries Ungrouped skin conditions resulting from physical factors Dermatosis neglecta Pinch mark Pseudoverrucous papules and nodules Sclerosing lymphangitis Tropical anhidrotic asthenia UV-sensitive syndrome environmental skin conditions Electrical burn frictional/traumatic/sports Black heel and palm Equestrian perniosis Jogger's nipple Pulling boat hands Runner's rump Surfer's knots Tennis toe Vibration white finger Weathering nodule of ear Wrestler's ear Coral cut Painful fat herniation Uranium dermatosis iv use Skin pop scar Skin track Slap mark Pseudoacanthosis nigricans Narcotic dermopathy v t e Hypersensitivity and autoimmune diseases Type I / allergy / atopy ( IgE ) Foreign Atopic eczema Allergic urticaria Allergic rhinitis (Hay fever) Allergic asthma Anaphylaxis Food allergy common allergies include: Milk Egg Peanut Tree nut Seafood Soy Wheat Penicillin allergy Autoimmune Eosinophilic esophagitis Type II / ADCC IgM IgG Foreign Hemolytic disease of the newborn Autoimmune Cytotoxic Autoimmune hemolytic anemia Immune thrombocytopenic purpura Bullous pemphigoid Pemphigus vulgaris Rheumatic fever Goodpasture syndrome Guillain–Barré syndrome " Type V "/ receptor Graves' disease Myasthenia gravis Pernicious anemia Type III ( Immune complex ) Foreign Henoch–Schönlein purpura Hypersensitivity vasculitis Reactive arthritis Farmer's lung Post-streptococcal glomerulonephritis Serum sickness Arthus reaction Autoimmune Systemic lupus erythematosus Subacute bacterial endocarditis Rheumatoid arthritis Type IV / cell-mediated ( T cells ) Foreign Allergic contact dermatitis Mantoux test Autoimmune Diabetes mellitus type 1 Hashimoto's thyroiditis Multiple sclerosis Coeliac disease Giant-cell arteritis Postorgasmic illness syndrome Reactive arthritis GVHD Transfusion-associated graft versus host disease Unknown/ multiple Foreign Hypersensitivity pneumonitis Allergic bronchopulmonary aspergillosis Transplant rejection Latex allergy (I+IV) Autoimmune Sjögren syndrome Autoimmune hepatitis Autoimmune polyendocrine syndrome APS1 APS2 Autoimmune adrenalitis Systemic autoimmune disease
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Idiopathic Chronic Fatigue
Wikipedia
Abnormal fatigue of unknown origin that persists for at least 6 months This page does not refer to self-reported fatigue , fatigue caused by chronic fatigue syndrome or another medical condition. Idiopathic Chronic Fatigue Other names ICF, Asthenia [1] Specialty Family medicine , Internal medicine , Musculoskeletal Symptoms Chronic fatigue Usual onset Ages 15-24, or over 60 years old [2] Duration At least six consecutive months Causes Unknown Risk factors Female gender Diagnostic method Based on symptoms, Diagnosis of exclusion Differential diagnosis Fatigue , chronic fatigue due to a known medical condition , post-viral fatigue , chronic fatigue syndrome , Occupational burnout Treatment Symptomatic Frequency 6.2 to 64.2 per 1000 [3] Idiopathic chronic fatigue ( ICF ), is characterized by unexplained fatigue that lasts at least six consecutive months. [2] It widely understood to have a profound effect on the lives of patients who experience it. [2] ICF is a common illness of unknown origin, [1] and remains poorly understood. Contents 1 Classification 2 Diagnosis 2.1 Signs and symptoms 2.2 Exclusions 2.3 Common medical causes of fatigue 3 Management 3.1 Counseling 3.2 Medication 3.2.1 Anti-depressants 3.2.2 Alternative and complementary treatments 4 Prognosis 5 Epidemiology 6 See also 7 References 8 External links Classification [ edit ] Idiopathic chronic fatigue is classified as a physical medical condition of unknown origin by the World Health Organization . [1] [4] Diagnosis [ edit ] ICF is fatigue of unknown origin, persisting or relapsing for a minimum of six consecutive months, and failing to meet the criteria for chronic fatigue syndrome . There is no agreed upon international criteria for idiopathic chronic fatigue however the CDC's 1994 Idiopathic Chronic Fatigue criteria, known as the Fukuda criteria, is commonly used. [2] Signs and symptoms [ edit ] Clinically evaluated fatigue New or definite onset (not lifelong) Not resulting from exertion Fatigue persists or is relapsing for six consecutive months or longer Fails to meet the criteria for chronic fatigue syndrome The cause is unknown [2] [5] Exclusions [ edit ] Fatigue which begins within 2 years of a substance use disorder (addiction) or at any time after major depression with psychotic or melancholic features bipolar disorder schizophrenia or schizophrenia-related disorders delusional disorders the eating disorder bulimia nervosa dementia of any form chronic fatigue syndrome fatigue caused by an active medical condition fatigue caused by a previous medical condition that may not be fully resolved fatigue caused as a known side effect of medication severe obesity (a body mass index greater than 45) [2] Common medical causes of fatigue [ edit ] These must be ruled out before a diagnosis of ICF can be made. ... G.; Komaroff, A. (1994-12-15). "The chronic fatigue syndrome: a comprehensive approach to its definition and study. International Chronic Fatigue Syndrome Study Group". Annals of Internal Medicine . ... "Traditional Chinese medicinal herbs for the treatment of idiopathic chronic fatigue and chronic fatigue syndrome". Cochrane Database of Systematic Reviews (4): CD006348. doi : 10.1002/14651858.CD006348.pub2 .
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Kayser–fleischer Ring
Wikipedia
External links [ edit ] Classification D ICD - 10 : H18.0 ICD - 9-CM : 371.14 DiseasesDB : 30056 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 Symptoms and signs relating to the eye Adnexa lacrimal : Schirmer's test eyelid : Abadie's sign of exophthalmic goiter Boston's sign Dalrymple's sign Stellwag's sign Globe pupil : Argyll Robertson pupils Adie pupil Marcus Gunn pupil cornea : Fleischer ring Kayser–Fleischer ring Hudson–Stahli line iris : Brushfield spots Lisch nodule conjunctiva : Bitot's spots Arlt's line retina : Hollenhorst plaque Roth's spot Fuchs spot others: Alexander's law Hirschberg test Siegrist streaks
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Phthisis Bulbi
Wikipedia
External links [ edit ] Classification D ICD - 10 : H44.5 ICD - 9-CM : 360.41 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 This article about a medical condition affecting the nervous system is a stub .
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Pseudobulbar Palsy
Wikipedia
Examples include: Vascular causes: bilateral hemisphere infarction , CADASIL syndrome Progressive supranuclear palsy Amyotrophic lateral sclerosis Parkinson's disease and related multiple system atrophy Various motor neuron diseases , especially those involving demyelination Multiple sclerosis and other inflammatory disorders High brain stem tumors Metabolic causes: osmotic demyelination syndrome [2] Neurological involvement in Behçet's disease Brain trauma Pathophysiology [ edit ] The proposed mechanism of pseudobulbar palsy points to the disinhibition of the motor neurons controlling laughter and crying, proposing that a reciprocal pathway exists between the cerebellum and the brain stem that adjusts laughter and crying responses, making them appropriate to context. [3] The pseudobulbar crying could also be induced by stimulation in the region of the subthalamic nucleus of the brain. [4] Signs and symptoms [ edit ] Signs and symptoms of pseudobulbar palsy include: Slow and indistinct speech Dysphagia (difficulty in swallowing) Small, stiff and spastic tongue Brisk jaw jerk Dysarthria Labile affect [5] Gag reflex may be normal, exaggerated or absent Examination may reveal upper motor neuron lesion of the limbs Diagnosis [ edit ] Diagnosis of pseudobulbar palsy is based on observation of the symptoms of the condition. ... Treatment [ edit ] Since pseudobulbar palsy is a syndrome associated with other diseases, treating the underlying disease may eventually reduce the symptoms of pseudobulbar palsy. ... Dextromethorphan, an N-methyl-D-aspartate receptor antagonist, inhibits glutamatergic transmission in the regions of the brainstem and cerebellum, which are hypothesized to be involved in pseudobulbar symptoms, and acts as a sigma ligand, binding to the sigma-1 receptors that mediate the emotional motor expression. [3] See also [ edit ] Corticobulbar tract Bulbar palsy , a similar syndrome caused by the damage of lower motor neurons . ... "Subcortical white matter lesions in osmotic demyelination syndrome". American Journal of Neuroradiology . 16 (7): 1495–7. ... PMID 17167648 . ^ Asfora, W., Desalles, A., ABE, M., Kjellberg, R. "Is the syndrome of pathological laughing and crying a manifestation of pseudobulbar palsy?"
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Intermediate Uveitis
Wikipedia
ISBN 978-1437709087 . 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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Salivary Gland Aplasia
Wikipedia
It is a rare condition, and most known cases have been in association with syndromes of the ectodermal tissues, [1] particularly the lacrimal apparatus . [2] Example syndromes which have been reported with salivary gland aplasia include hereditary ectodermal dysplasia , mandibulofacial dysostosis and hemifacial microsomia . [3] The main significance of the condition is a lack of saliva, causing xerostomia (dry mouth), with accompanying susceptibility to dental caries (tooth decay), infections of the mouth, [1] and upper respiratory tract infections (e.g., candidiasis , ascending sialadenitis , laryngitis and pharyngitis ). [2] Patients with salivary gland aplasia typically require regular application of topical fluoride to prevent tooth decay. [3] References [ edit ] ^ a b Taji, SS; Savage, N; Holcombe, T; Khan, F; Seow, WK (2011). ... ISBN 978-93-5025-214-7 . v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease
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Jaw Tumors And Cysts
Mayo_clinic
These cysts may also be found in people with an inherited condition called nevoid basal cell carcinoma syndrome. Odontogenic myxoma. This is a rare, slow-growing, benign tumor that occurs most often in the lower jaw. ... These tumors may be part of some genetic syndromes. Other types of cysts and tumors. ... Generally, the cause of jaw tumors and cysts is not known; however, some are associated with gene changes (mutations) or genetic syndromes. People with nevoid basal cell carcinoma syndrome, also called Gorlin-Goltz syndrome, lack a gene that suppresses tumors. The genetic mutation that causes the syndrome is inherited. This syndrome results in the development of multiple odontogenic keratocysts within the jaws, multiple basal cell skin cancers and other characteristics.
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Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Omim
A number sign (#) is used with this entry because of evidence that multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is caused by homozygous mutation in the BOLA3 gene (613183) on chromosome 2p13. Description Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. ... For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (605711). Clinical Features Seyda et al. (2001) reported a male infant, born of first-cousin East Indian parents, who developed epileptic seizures associated with elevated levels of serum glycine and cerebrospinal fluid (CSF) glycine at age 4 months. ... Mapping Complementation studies by Seyda et al. (2001) indicated that the defect in the patient with multiple mitochondrial dysfunctions syndrome-2 maps to chromosome 2p14-p13.
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Leukoencephalopathy, Brain Calcifications, And Cysts
Omim
Description Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996). See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012). ... Exclusion Studies Anderson et al. (2012) excluded mutations in the CTC1 gene in 21 families with Labrune syndrome. Polvi et al. (2012) also excluded mutations in the CTC1 gene in 2 probands with cerebral calcifications, leukoencephalopathy, and brain cysts without systemic manifestations. These studies suggested that Labrune syndrome is not allelic to CRMCC. INHERITANCE - Autosomal recessive NEUROLOGIC Central Nervous System - Developmental delay - Seizures - Gait abnormalities - Spasticity - Dystonia - Ataxia - Dysarthria - Hemiplegia - Tremor - Cognitive decline - Extrapyramidal signs - Pyramidal signs - Intracerebral cysts - Intracranial calcifications - Leukodystrophy MISCELLANEOUS - Onset usually in childhood - Later onset has been reported - Highly variable severity - Progressive disorder MOLECULAR BASIS - Caused by mutation in the small nucleolar RNA, C/D box, 118 gene (SNORD118, 616663.0001 ) ▲ Close
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Glossoptosis
Wikipedia
It is one of the features of Pierre Robin sequence and Down syndrome . [1] References [ edit ] ^ a b Donnelly, Lane F. (2016-08-10). ... ISBN 9780323444996 . v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease This medical sign article is a stub .
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Progressive Outer Retinal Necrosis
Wikipedia
Progressive outer retinal necrosis ( PORN ) syndrome is a form of chorio-retinitis, an infection in the retina, the back of the eye. ... The syndrome, PORN, falls under the umbrella of Necrotizing Herpetic Retinopathy, along with Acute Retinal Necrosis (ARN). ... If the immune system has been significantly weakened by AIDS, a patient will likely present with worse and faster progressing PORN. [2] Commonly presenting symptoms of PORN include: Blurry vision Acute onset bilateral visual loss OR painless progressive visual loss Decreased vision with pain Floaters Headaches Diagnosis [ edit ] The diagnosis of Progressive outer retinal necrosis (PORN) syndrome is made primarily through history and physical exam. ... "Progressive outer retinal necrosis syndrome: a comprehensive review of its clinical presentation, relationship to immune system status, and management" . ... ISSN 1137-6627 . v t e Varicella zoster Varicella zoster virus Varicellovirus Diseases Chickenpox Herpes zoster Postherpetic neuralgia Ramsay Hunt syndrome type II Disseminated herpes zoster Progressive outer retinal necrosis Ophthalmic zoster Treatment Aciclovir Vidarabine VZV immune globulin Prevention Varicella vaccine Zoster vaccine Pox party Other Michiaki Takahashi This article about an ophthalmic disease is a stub .
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Patellar Subluxation Syndrome
Wikipedia
Patellar subluxation syndrome Other names Patellar instability , Onstable kneecap Patellar subluxation syndrome , is an injury that is concerned with the kneecap . ... The vastus medialis oblique muscle is described to have an important role in functional stabilization of the patella against lateral vector force. [5] Proprioceptive exercises and strengthening of the hip abductors and positioning of the foot are crucial, especially indicated in patient with miserable malalignment syndrome or medial collapse. [6] Several patellar braces or taping methods exist to improve return to sport. ... "Patellar taping for patellofemoral pain syndrome in adults" (PDF) . Cochrane Database Syst Rev . 18 (4): CD006717. doi : 10.1002/14651858.cd006717.pub2 .
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Reflux Nephropathy
Wikipedia
The term "reflux nephropathy" was introduced in 1973. [1] Contents 1 Signs and symptoms 2 Cause 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Epidemiology 7 References 8 Further reading 9 External links Signs and symptoms [ edit ] The symptoms of reflux nephropathy are comparable to nephrotic syndrome and infection of the urinary tract , though some individuals may not exhibit any evidence (symptom) of reflux nephropathy. [2] Cause [ edit ] The abnormal retrograde flow of urine from the bladder into one or both the ureters leads to vesicoureteral reflux (VUR), which is a direct consequence of incompetent and mislocated ureterovesical valves. ... External links [ edit ] Classification D ICD - 10 : N11.0 , N13.7 - N13.9 ICD - 9-CM : 593.73 DiseasesDB : 11209 External resources MedlinePlus : 000459 eMedicine : radio/597 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
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Systemic-Onset Juvenile Idiopathic Arthritis
Orphanet
Differential diagnosis The differential diagnoses is extensive and includes bacterial infections (including occult bacterial infection, brucellosis, Lyme disease, cat scratch disease, tuberculosis, and infectious mononucleosis), malaria, malignancies (such as leukemia, lymphoma, and neuroblastoma), viral infections, hereditary recurrent fever syndromes, other inflammatory diseases (such as systemic lupus erythematosus, systemic vasculitis, Kawasaki disease, Behçet disease, inflammatory bowel disease, Sweet syndrome, PFAPA, Takayasu syndrome, Castleman syndrome, rheumatic fever, and polyarteritis nodosa), connective tissue diseases, and periodic fever syndromes. ... Generally, complications such as macrophage activation syndrome, limitations in functional outcome by arthritis and long-term damage from chronic inflammation continue to be a major issue in patients' care, but have decreased since the use of biological treatment. ... Currently, osteopenia and osteoporosis, growth impairment, erosive arthritis, and secondary or reactive amyloidosis have almost disappeared. Macrophage activation syndrome is little influenced by recent therapeutic strategies and requires rapid care in the intensive care unit.CLU, ACP3, WASF3, PCYT1B, UBE3C, MTSS1, FCHSD2, RHOBTB1, PLK2, FAXDC2, KLF4, BTG3, PACSIN2, R3HDM2, TNIK, UHRF1BP1L, AVL9, TTLL5, B4GALT5, CD83, KAT6B, TNFRSF10C, STAT3, STIM1, ADCY7, TFDP1, TFPI, THBS1, TNFAIP6, TUBB2A, UBE2E1, RNF103, CXCR4, NR4A3, DYSF, H2BC8, MAD1L1, STAB1, MAFF, SLC2A3, MIR22HG, ANKRD9, BEND2, LACC1, CMTM2, SIK1, RASGEF1B, CAMSAP1, ZFC3H1, APOBEC3A, C9orf72, JMJD1C, NEAT1, TREML1, LILRA5, MYZAP, SLC22A16, AOPEP, TNFAIP8, ACRBP, SIPA1L1, FOXP1, ASAP1, MEX3C, MS4A4A, WWOX, RBM47, FAM20A, ETNK1, ZFAND3, HERPUD2, NDEL1, SH3BGRL2, C2orf88, MAML2, SLC11A1, TCF7L2, CXCL1, ITGA2B, HBEGF, IL6, IL1RN, CD8B, CD14, IGF1R, HSPA6, HLA-DRB1, NRG1, H2AC8, CREM, GP1BB, GNG11, GMPR, FOSL2, CTLA4, FOSB, FOS, FCGR1A, ETV6, CTTN, DAPK1, ELF2, EGR1, GADD45A, DDIT3, EGF, DUSP4, DUSP2, CXCR2, CALD1, DUSP1, PLAUR, PER1, OSM, OLR1, AQP9, NR4A2, AREG, MSN, ITGB5, RERE, PLOD2, MIF, PGM5, MAP2, MAPK1, SMAD3, BTG1, LPP, C8B, KRAS, KCNJ15, ALOX12, PROS1, JUN, FAS, IRF1-AS1, PRICKLE2, RMI2, ZFP36L1, ZBTB7C, CCR3, LINC01104, RUNX1, JAZF1, ATXN2, PRR5L, IL2RB, STAT1, STAT4, TYK2, UBE2L3, LTBR, LNPEP, ANKRD55, IL6R, HDAC9, IL2RA, PTPN2, TIMMDC1, COG6, LINC02341, IL1B, IL1A, HLA-B, MDM2, KMT2A, UCP1, TP53, TAPBP, ERBB2
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Hypoprolactinemia
Wikipedia
Hypoprolactinemia Prolactin Specialty Gynecology Hypoprolactinemia is a medical condition characterized by a deficiency in the serum levels of the hypothalamic-pituitary hormone prolactin . [1] [2] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 4 Management 5 See also 6 References 7 External links Signs and symptoms [ edit ] Hypoprolactinemia is associated with ovarian dysfunction in women, [3] [4] and, in men, metabolic syndrome , [5] anxiety symptoms, [5] arteriogenic erectile dysfunction , [6] premature ejaculation , [5] oligozoospermia (low concentration of sperm in semen ), asthenospermia (reduced sperm motility ), hypofunction of seminal vesicles , and hypoandrogenism . [7] In one study, normal sperm characteristics were restored when prolactin levels were brought up to normal values in men with hypoprolactinemia. [8] Hypoprolactinemia can be a cause of lactation failure after childbirth. [1] [9] [10] Causes [ edit ] Hypoprolactinemia can result from autoimmune disease , [2] hypopituitarism , [1] growth hormone deficiency , [2] hypothyroidism , [2] excessive dopamine action in the tuberoinfundibular pathway and/or the anterior pituitary , and ingestion of drugs that activate the D 2 receptor , such as direct D 2 receptor agonists like bromocriptine and pergolide , and indirect D 2 receptor activators like amphetamines (through the induction of dopamine release ). [11] Diagnosis [ edit ] Guidelines for diagnosing hypoprolactinemia are defined as prolactin levels below 3 µg/L in women, [3] [4] and 5 µg/L in men. [12] [7] [8] Management [ edit ] There are few treatments which increase prolactin levels in humans. ... "Hypoprolactinemia: A New Clinical Syndrome in Patients with Sexual Dysfunction". ... "Hypoprolactinemia: a new clinical syndrome in patients with sexual dysfunction". ... External links [ edit ] Classification D MeSH : C562708 v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenoma
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3-Methylcrotonyl-Coa Carboxylase Deficiency
Wikipedia
The characteristic features of this condition are similar to those of Reye syndrome , a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. ... External links [ edit ] Classification D OMIM : 210200 210210 MeSH : C535308 DiseasesDB : 32207 3-Methylcrotonyl-CoA carboxylase deficiency at NLM Genetics Home Reference v t e Inborn error of amino acid metabolism K → acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria Leucine 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease Tryptophan Hypertryptophanemia G G→ pyruvate → citrate Glycine D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine → Creatine : GAMT deficiency Glycine encephalopathy G→ glutamate → α-ketoglutarate Histidine Carnosinemia Histidinemia Urocanic aciduria Proline Hyperprolinemia Prolidase deficiency Glutamate / glutamine SSADHD G→ propionyl-CoA → succinyl-CoA Valine Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease Isoleucine 2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease Methionine Cystathioninuria Homocystinuria Hypermethioninemia General BC / OA Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia G→ fumarate Phenylalanine / tyrosine Phenylketonuria 6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency Tyrosinemia Alkaptonuria / Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III / Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia ( arginine aspartate ) Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis Other 2-Hydroxyglutaric aciduria Aminoacylase 1 deficiency Ethylmalonic encephalopathy Fumarase deficiency Trimethylaminuria
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Otocephaly
Wikipedia
Congenital first branchial arch defect Otocephaly Other names Agnathia-otocephaly complex, [1] dysgnathia complex, [1] holoprosencephaly–agnathia, [1] Kanwar syndrome [2] Female infant with otocephaly Specialty Medical genetics Symptoms Absence of mandible ( agnathia ), small or absent mouth ( microstomia ), fused ears below chin (synotia), holoprosencephaly Usual onset 23rd–26th day of gestation ( Carnegie stage 10) Causes Genetic Diagnostic method Prenatal ultrasound Differential diagnosis Treacher Collins syndrome , Goldenhar syndrome , Möbius syndrome Prognosis Stillbirth or miscarriage Frequency 1:70,000 Otocephaly , also known as agnathia–otocephaly complex , is a very rare and lethal cephalic disorder characterized by the absence of the mandible ( agnathia ), with the ears fused together just below the chin (synotia). ... They termed this severe presentation Kanwar syndrome. [2] References [ edit ] ^ a b c d "OMIM Entry - # 202650 - AGNATHIA-OTOCEPHALY COMPLEX; AGOTC" . ... External links [ edit ] Classification D ICD - 10 : Q18.2 OMIM : 202650 MeSH : C562503 NINDS Overview v t e Congenital malformations and deformations of face and neck Face jaw : Otocephaly mouth : Macrostomia Microstomia lip : Macrocheilia Microcheilia chin : Microgenia multiple/other: Hallermann–Streiff syndrome Branchial cleft cyst Neck Webbed neck Ungrouped Preauricular sinus and cyst
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Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Omim
A number sign (#) is used with this entry because of evidence that autosomal recessive hyper-IgE recurrent infection syndrome-4 (HIES4) is caused by homozygous mutation in the IL6ST gene (600694) on chromosome 5q11. Description Hyper-IgE recurrent infection syndrome-4 (HIES4) is an autosomal recessive immunologic disorder characterized by early childhood onset of recurrent infections and skeletal abnormalities, including craniosynostosis and scoliosis. ... For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 (147060). Clinical Features Schwerd et al. (2017) reported a 7-year-old girl, born of consanguineous parents of South Asian origin, with HIES4.