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  • Conjunctivitis Wikipedia
    Classification D ICD - 10 : H10 ICD - 9-CM : 372.0 MeSH : D003231 DiseasesDB : 3067 External resources MedlinePlus : 001010 eMedicine : emerg/110 Patient UK : Conjunctivitis 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 Authority control NDL : 00565682
    MMP2, PTAFR, PSMB9, LRRC8A, FERMT1, SAMD9, MMP1, MBTPS2, PIK3R1, PLG, POLH, PSMB4, PSMB8, RAG1, RAG2, ICOS, BLNK, TCF3, TNFRSF13B, GJB6, TNFRSF1A, UROS, WAS, WIPF1, XPA, XPC, TP63, STX16, SLC39A4, NLRC4, ERCC6, BTD, BTK, CD19, CD79A, CD79B, LRBA, COL7A1, CR2, DDB2, DKC1, DNASE1L3, USB1, ERCC2, ERF, FGFR2, FOXC2, GNAS, HLA-B, TNFRSF13C, IGHM, IGLL1, NLRP3, IKZF1, MBL3P, PLD3, IMMP1L, IGF2BP1, AD11, HM13, ALB, AOC3, IMPA1, CD14, GYPA, IFNGR1, IL4, CXCL8, IL10, IL12B, IL13, LGALS1, TYR, MBL2, PCOS1, ALK, CCL17, SOD3, STAT6, TEK, TNF, ERVK-19
  • Oral Candidiasis Wikipedia
    Classification of oral candidiasis. [2] Primary oral candidiasis (group I) Pseudomembranous (acute or chronic) Erythematous (acute or chronic) Hyperplastic: plaque-like, nodular Candida-associated lesions: Denture related stomatitis, angular stomatitis, median rhomboid glossitis, linear gingival erythema Secondary oral candidiasis (group II) Oral manifestations of systemic mucocutaneous candidiasis (due to diseases such as thymic aplasia and candidiasis endocrinopathy syndrome) Oral candidiasis is a mycosis (fungal infection). ... The global human immunodeficiency virus / acquired immunodeficiency syndrome (HIV/AIDS) pandemic has been an important factor in the move away from the traditional classification since it has led to the formation of a new group of patients who present with atypical forms of oral candidiasis. [2] By appearance [ edit ] Three main clinical appearances of candidiasis are generally recognized: pseudomembranous, erythematous (atrophic) and hyperplastic. [4] Most often, affected individuals display one clear type or another, but sometimes there can be more than one clinical variant in the same person. [5] Pseudomembranous candidiasis in the mouth and oropharynx . ... Smoking is a known risk factor. [13] Chronic mucocutaneous candidiasis [ edit ] Main article: Chronic mucocutaneous candidiasis This refers to a group of rare syndromes characterized by chronic candidal lesions on the skin, in the mouth and on other mucous membranes (i.e., a secondary oral candidiasis). These include Localized chronic mucocutaneous candidiasis, diffuse mucocutaneous candidiasis (Candida granuloma), candidiasis–endocrinopathy syndrome and candidiasis thymoma syndrome. ... Oral candidiasis is sometimes presented in this manner as a symptom of a widely prevalent systemic candidiasis , candida hypersensitivity syndrome , yeast allergy , or gastrointestinal candida overgrowth , which are medically unrecognized conditions.
    LTF, IL17A, APCS, SH2D1A, SOD1, TNF, PSAP, DEFB4B, DEFB4A, IGFALS, PTPRH, IL22, IL12RB1, CXCL8, IL6, LRRCC1, ERVK-19, ERVK-9, ELK3, ERVK-24, ERVK-25, ERVK-18, ERVK-21, ERVK-10, SCLT1, ELK4, ERVK-8, HTN3, ERVK-7, STAT3, ZMYND10, TRAF3IP2, AKR1A1, NR4A3, IL23A, PLB1, ADH1A, STAT2, IFNG, ALS3, B2M, CBS, SEPTIN7, CDR1, CDR2, DEFB1, FLG, IL1A, CCL5, IL1B, IL1RN, IL4, LYZ, CYTB, ALB, PLCG1, PLD1, MUC1
    • Oral Thrush Mayo Clinic
      Overview Oral thrush — also called oral candidiasis (kan-dih-DIE-uh-sis) — is a condition in which the fungus Candida albicans accumulates on the lining of your mouth. Candida is a normal organism in your mouth, but sometimes it can overgrow and cause symptoms. Oral thrush causes creamy white lesions, usually on your tongue or inner cheeks. Sometimes oral thrush may spread to the roof of your mouth, your gums or tonsils, or the back of your throat. Although oral thrush can affect anyone, it's more likely to occur in babies and older adults because they have reduced immunity; in other people with suppressed immune systems or certain health conditions; or people who take certain medications.
  • Hypothyroidism Wikipedia
    Numerous symptoms and signs are associated with hypothyroidism and can be related to the underlying cause, or a direct effect of having not enough thyroid hormones. [13] [14] Hashimoto's thyroiditis may present with the mass effect of a goiter (enlarged thyroid gland). [13] Symptoms and signs of hypothyroidism [13] Symptoms [13] Signs [13] Fatigue Dry, coarse skin Feeling cold Cool extremities Poor memory and concentration Myxedema ( mucopolysaccharide deposits in the skin) Constipation , dyspepsia [15] Hair loss Weight gain with poor appetite Slow pulse rate Shortness of breath Swelling of the limbs Hoarse voice Delayed relaxation of tendon reflexes In females, heavy menstrual periods (and later light periods ) Carpal tunnel syndrome Abnormal sensation Pleural effusion , ascites , pericardial effusion Poor hearing Delayed relaxation after testing the ankle jerk reflex is a characteristic sign of hypothyroidism and is associated with the severity of the hormone deficit. [7] Myxedema coma [ edit ] Man with myxedema or severe hypothyroidism showing an expressionless face, puffiness around the eyes and pallor Additional symptoms include swelling of the arms and legs and ascites. ... It is characterized by infiltration of the thyroid gland with T lymphocytes and autoantibodies against specific thyroid antigens such as thyroid peroxidase , thyroglobulin and the TSH receptor . [7] After women give birth, about 5% develop postpartum thyroiditis which can occur up to nine months afterwards. [26] This is characterized by a short period of hyperthyroidism followed by a period of hypothyroidism; 20–40% remain permanently hypothyroid. [26] Autoimmune thyroiditis is associated with other immune-mediated diseases such as diabetes mellitus type 1 , pernicious anemia , myasthenia gravis , celiac disease , rheumatoid arthritis and systemic lupus erythematosus . [7] It may occur as part of autoimmune polyendocrine syndrome ( type 1 and type 2 ). [7] Group Causes Primary hypothyroidism [7] Iodine deficiency (developing countries), autoimmune thyroiditis, subacute granulomatous thyroiditis , subacute lymphocytic thyroiditis , postpartum thyroiditis , previous thyroidectomy , acute infectious thyroiditis , [27] previous radioiodine treatment, previous external beam radiotherapy to the neck Medication: lithium -based mood stabilizers , amiodarone , interferon alpha , tyrosine kinase inhibitors such as sunitinib Central hypothyroidism [9] Lesions compressing the pituitary ( pituitary adenoma , craniopharyngioma , meningioma , glioma , Rathke's cleft cyst , metastasis , empty sella , aneurysm of the internal carotid artery ), surgery or radiation to the pituitary, drugs, injury, vascular disorders ( pituitary apoplexy , Sheehan syndrome , subarachnoid hemorrhage ), autoimmune diseases ( lymphocytic hypophysitis , polyglandular disorders), infiltrative diseases (iron overload due to hemochromatosis or thalassemia , neurosarcoidosis , Langerhans cell histiocytosis ), particular inherited congenital disorders, and infections ( tuberculosis , mycoses , syphilis ) Congenital hypothyroidism [28] Thyroid dysgenesis (75%), thyroid dyshormonogenesis (20%), maternal antibody or radioiodine transfer Syndromes: mutations (in GNAS complex locus , PAX8 , TTF-1/NKX2-1 , TTF-2/FOXE1 ), Pendred's syndrome (associated with sensorineural hearing loss ) Transiently: due to maternal iodine deficiency or excess, anti-TSH receptor antibodies, certain congenital disorders, neonatal illness Central: pituitary dysfunction (idiopathic, septo-optic dysplasia , deficiency of PIT1 , isolated TSH deficiency) In consumptive hypothyroidism, high levels of type 3 deiodinase inactivate thyroid hormones and thus lead to hypothyroidism. [29] High levels of type 3 deiodinase generally occur as the result of a hemangioma . [29] The condition is very rare. [29] Pathophysiology [ edit ] Diagram of the hypothalamic–pituitary–thyroid axis. ... The risk is higher in those with antibodies against thyroid peroxidase. [7] [37] Subclinical hypothyroidism is estimated to affect approximately 2% of children; in adults, subclinical hypothyroidism is more common in the elderly, and in Caucasians . [36] There is a much higher rate of thyroid disorders, the most common of which is hypothyroidism, in individuals with Down syndrome [21] [49] and Turner syndrome . [21] Very severe hypothyroidism and myxedema coma are rare, with it estimated to occur in 0.22 per million people a year. [16] The majority of cases occur in women over 60 years of age, although it may happen in all age groups. [16] Most hypothyroidism is primary in nature. ... "Consumptive Hypothyroidism: Case Report of Hepatic Hemangioendotheliomas Successfully Treated with Vincristine and Systematic Review of the Syndrome" . European Thyroid Journal . 6 (6): 321–327. doi : 10.1159/000481253 . ... "Health and disease in adults with Down syndrome" . Tidsskrift for den Norske Laegeforening (Review). 133 (3): 290–4. doi : 10.4045/tidsskr.12.0390 .
    TSHB, TRHR, TG, APOE, SLC30A10, SHH, KDM5C, TRH, IGF1, NR1D1, BDNF, NCOR1, ATP2A2, UCP2, NOS3, PNPLA3, SERPINA7, SOD1, UCP3, TOMM70, NCAM1, IL10, PCNA, CYP19A1, ADRB2, DCX, ALAD, GPX1, PAX8, CDK5R1, DPYSL2, MTHFR, ND3, ELAVL4, TSHR, GSN, CAV1, F7, NCOA1, TPO, ENTPD1, SLC34A1, MT3, WNT3A, APOA5, COL1A2, COL2A1, SLC2A1, SLC9A1, PLOD3, LIPC, PHKA1, SLC26A5, MAP1B, MSTN, MAP1A, OTOF, GIP, RELN, NKX2-1, NEFL, ARSA, NGF, AQP3, APOC3, NRGN, ANXA5, ANXA2, ANXA1, PLOD2, PLOD1, PAM, PCSK1, PITX2, GRK3, IGFBP2, HSD3B1, NOS2, NEFH, BAD, THRA, SRD5A1, STAR, MYH6, MYH7, L1CAM, NEFM, ATP5PO, SLC5A5, SLC16A2, POU1F1, SLC26A4, FOXE1, DUOX2, IGSF1, PROP1, PIK3CA, FMR1, DUOXA2, IYD, GNAS, IFNG, FOXP3, ADA, HLA-DRB1, IL2RA, THRB, PDE8B, CHD7, STAT1, RET, HESX1, TNFRSF11B, COX2, IFIH1, LHX4, PTPN22, PDE10A, VAV3, CP, SCN4A, DCLRE1C, PTEN, PTCH1, PRL, ALG8, SRD5A3, RNASEH2B, ARID1B, PVT1, NAA25, SRY, TWNK, DCAF17, POLG, PMM2, IQCN, PTPN11, SOX3, RAB5B, PLEKHA1, SIX3, SKI, ATXN2, SBF1, SKIV2L, SALL1, BACH2, SAA1, RREB1, ACP5, PHRF1, ROBO1, RMRP, RFC2, LRRC8A, PRDM16, RAG2, RAG1, RAD51B, RAB5C, ALX4, NFKB1, STAT4, DNM1L, DEAF1, FBLN5, STK25, DLEU1, STUB1, TIMMDC1, SLC25A37, PLXNC1, RASGRP1, GNE, CEP57, SH2B3, TANK, PHF21A, DACT1, TRANK1, ELMO1, KEAP1, PIEZO1, ACAP1, RNASEH2A, CDON, CD226, RAI1, SAMHD1, PANX1, TBL2, PIK3R5, KAT6B, AGO2, TMEM131, GPR161, DLL1, EXOSC2, ADNP, POGZ, IQSEC2, MYH15, TREX1, POLG2, EFEMP2, RRM2B, NEK6, SEMA3E, TTC37, BTNL2, HIRA, ALMS1, ZIC2, XRCC4, FANCI, WFS1, CLIP2, STEAP3, UFD1, TYK2, TSC2, SEC24C, TSC1, TNFRSF1B, TGIF1, RAB20, WDR11, TF, TDGF1, HNF1B, TBX1, KCNAB2, BHLHE40, TP63, PHIP, PTRH2, GTF2IRD1, MPDU1, EIF2AK3, MED7, FADS2, SUFU, TRIP13, BUB3, SH2D2A, BAZ1B, UBASH3A, KYNU, FOXH1, SGPL1, MAGEL2, SLC66A1, CCN4, TNFRSF14, PIK3C2A, DNAH1, CLPB, GATA1, GABRD, ARL6IP6, FYN, FUCA1, FLT3, FLII, FOXI1, FGFR1, FGF8, MB21D2, EXT2, ELN, UBR1, DIO2, HIPK1, JMJD1C, SPATA13, GAS1, GCH1, CPT1C, HORMAD2, EDARADD, HPD, PROKR2, HNF4A, TANGO2, DNAJC19, NRG1, HBB, GTF2I, HT, KCTD19, GPC1, GP1BB, GNB1, ENPP1, GLI2, GH1, FGD2, FOXK1, NKX2-5, RSBN1L, LINC01301, ARVCF, MIR3681HG, PCAT1, ABCC6, IFNG-AS1, LINC01934, LINC00824, PTCSC2, CASC19, APC, SLC25A4, AKT1, LINC02357, LINC02621, ADCY7, ADAR, RERE, LINC00271, LINC01387, CD247, COMT, COL4A1, CDH13, LRBA, HECTD4, CD80, HCG22, CD2, MICOS10, LINC00299, CBLB, CAMK4, C12orf76, FMNL1, BUB1B, BUB1, HSD17B3, HJV, TRNS1, ITK, ARID5B, KARS1, KCNJ10, TRNQ, TRNN, MACIR, TRNL2, TRNL1, TRNH, KCNH7, LIFR, LIG4, LIMK1, TRNF, LPP, ND6, ND5, ND4, ND1, COX3, LRP4, PNPT1, COX1, DISP1, ITCH, MARS1, RNASEH2C, JAK1, MCM8, C1QTNF6, IGHGP, TRNS2, IL12RB2, IL7R, NPHS1, PLVAP, IL2RG, IP6K3, INPP5B, INSR, TRIM8, NODAL, NFATC1, IRF4, IRF5, TRNW, OPA1, LEP, MED12, TNF, CTLA4, CD274, CAT, ALB, PDCD1, DIO3, GPT, SLC20A1, MAPK3, PTH, THRA1/BTR, POMC, PIK3CG, PIK3CD, PIK3CB, ACHE, LDLR, SHBG, IL6, IGFBP3, MIR224, GLUL, FSHR, LHX3, PLA2G2A, BRAF, LPA, CST3, BCL2, KCNQ1, GCG, TTF1, GHRHR, NR1I3, GJA1, REN, HLA-DQB1, AGT, PPIG, CRP, SLCO1C1, BRD2, CD68, ACTB, MOK, DECR1, MTTP, ANGPTL3, HAMP, SCGB3A2, SLC2A8, APOBR, GPR151, SLCO6A1, ANTXR2, AMN, COASY, ANGPTL8, USE1, COQ9, SLC16A10, GSTO2, CAMKMT, GSTK1, PCSK9, MAGI3, COPD, TIGIT, NUDT10, GLIS3, DACT2, SLC2A12, SERPINA13P, EHMT1, MIR206, UBE2Z, DNAJC17, IL33, MLXIPL, GSTT2B, POTEF, ZGLP1, CXADRP1, RORA, SMUG1, DPP4, GLP1R, GFAP, XRCC6, FASN, EGR1, EFNA5, DNMT1, LAMP1, DNASE2, DMP1, DIO1, ACE, CYP2B6, CXADR, GPER1, GSTP1, GSTT1, GZMB, HLA-C, HLA-DQA1, HOXD13, HPT, IGFBP1, IGHD, IGHG3, IL2, IL4, IL17A, CXCL10, ISG20, KRT6A, CTNNB1, MAPK14, CRH, BAAT, AGER, JAG1, AHR, APOA1, APOB, APP, AQP4, AR, ARNTL, ARR3, ATM, ATP4A, ATP7B, AVP, BCL6, CNR1, HCN2, BMPR2, C2, CAD, CALM1, CALM2, CALM3, CAPZB, CASP3, CASR, KRIT1, CD28, CD36, CETP, KRT17, LGALS3, SLC39A14, VEGFA, PER2, NR1I2, KSR1, ABCB11, CNBP, XK, TNFSF4, LRP1, TTN, TGFB1, TFAM, TERT, TEF, TRB, HSPB3, ADIPOQ, NCOR2, MED13, KCNE2, MPZL2, TRIM13, NCOA2, TXNRD2, TSBP1, PPARGC1A, RAB40B, METAP2, NLRP1, DKK1, SIRT1, TRAM1, SYT1, STAT3, SST, PPARD, LRPAP1, MAP2, MBL2, MME, MPO, MT1B, CLDN11, PAEP, PDE3B, ATP8B1, PIK3C3, PLIN1, PON1, PPARA, PPARG, SREBF2, PRKAA1, PRKAA2, PRKAB1, PRKAR1A, DNAJC3, PTGS2, PTH1R, RARA, RBP4, SLC2A3, SLC13A1, SOD2, SPG7, SREBF1, MTCO2P12
  • Muscle–eye–brain Disease Wikipedia
    MEB is phenotypically similar to the Walker–Warburg syndrome (WWS), both disorders are congenital muscular dystrophy. ... "Muscle, Eye and Brain Disease: A New Syndrome". Neuropediatrics . 8 (S 01): 553. doi : 10.1055/s-0028-1091594 . ... "Muscle–Eye–Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy" . ... "Ophthalmological Findings in a New Syndrome with Muscle, Eye and Brain Involvement". ... "Response to Santavuori et al. regarding Walker–Warburg syndrome and muscle–eye–brain disease".
    POMGNT1, LARGE1, POMT2, FKRP, FKTN, B3GALNT2, POMT1, GMPPB, DAG1, POMGNT2, POMK, CRPPA, B4GAT1, RXYLT1, ZC4H2, LAMA2, MDC1B, ANO5, COL4A1
    • Muscle Eye Brain Disease GARD
      Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth ( congenital muscular dystrophy ). Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness ( myopia ), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms.
    • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 OMIM
      A number sign (#) is used with this entry because of evidence that this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A14; MDDGA14) is caused by compound heterozygous mutation in the GMPPB (615320) on chromosome 3p21. GMPPB encodes the beta subunit of GDP-mannose pyrophosphorylase. Mutation in the GMPPB gene can also cause a less severe congenital muscular dystrophy-dystroglycanopathy with mental retardation (type B14; MDDGB14; 615351) and a limb-girdle muscular dystrophy-dystroglycanopathy (type C14; MDDGC14; 615352). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). Clinical Features Carss et al. (2013) reported an 8-year-old Pakistani boy who presented at birth with increased muscle tone, microcephaly, cleft palate, and feeding difficulties. He later showed severe muscle weakness, delayed walking (only with support at age 3 years), and severe intellectual development with lack of speech.
    • Muscle-Eye-Brain Disease Orphanet
      A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.
  • Premenstrual Dysphoric Disorder Wikipedia
    PMID 16417420 . ^ Biggs, WS; Demuth, RH (October 2011). "Premenstrual syndrome and premenstrual dysphoric disorder". ... S2CID 2048753 . ^ Condon, John T (April 1993). "The Premenstrual Syndrome: A Twin Study". The British Journal of Psychiatry . ... PMID 21427640 . ^ a b "Premenstrual Syndrome, Management (Green-top Guideline No. 48)" . ... "New perspectives on the treatment of premenstrual syndrome and premenstrual dysphoric disorder". ... "Cognitive-behavioral and pharmacological interventions for premenstrual syndrome or premenstrual dysphoric disorder: a meta-analysis".
    ESR1, SLC6A4, BDNF, HTR1A, ESR2, MAOA, PRB1, TSPAN31, TFAP2B, TPH1, MTF2, NANS
  • Seborrhoeic Dermatitis Wikipedia
    ., that seen in polycystic ovary syndrome ). [26] [27] In addition, seborrhoea, as well as acne , are commonly associated with puberty due to the steep increase of androgen levels at that time. [28] In accordance with the involvement of androgens in seborrhoea, antiandrogens, such as cyproterone acetate , [29] spironolactone , [30] flutamide , [31] [32] and nilutamide , [33] [34] are highly effective in alleviating the condition. [26] [35] As such, they are used in the treatment of seborrhoea, [26] [35] particularly severe cases. [36] While beneficial in seborrhoea, effectiveness may vary with different antiandrogens; for instance, spironolactone (which is regarded as a relatively weak antiandrogen) has been found to produce a 50% improvement after three months of treatment, whereas flutamide has been found to result in an 80% improvement within three months. [26] [32] Cyproterone acetate is similarly more potent and effective than spironolactone, and results in considerable improvement or disappearance of acne and seborrhoea in 90% of patients within three months. [37] Systemic antiandrogen therapy are generally used to treat seborrhoea only in women, and not in men, as these medications can result in feminization (e.g., gynecomastia ), sexual dysfunction , and infertility in males. [38] [39] In addition, antiandrogens theoretically have the potential to feminize male fetuses in pregnant women, and for this reason, are usually combined with effective birth control in sexually active women who can or may become pregnant. [37] Antihistamines [ edit ] Antihistamines are used primarily to reduce itching , if present. ... Diagnosis and Management of Polycystic Ovary Syndrome . Springer Science & Business Media. pp. 240–. ... American Academy of Dermatology: Seborrheic dermatitis v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma v t e Dermatitis and eczema Atopic dermatitis Besnier's prurigo Seborrheic dermatitis Pityriasis simplex capillitii Cradle cap Contact dermatitis ( allergic , irritant ) plants: Urushiol-induced contact dermatitis African blackwood dermatitis Tulip fingers other: Abietic acid dermatitis Diaper rash Airbag dermatitis Baboon syndrome Contact stomatitis Protein contact dermatitis Eczema Autoimmune estrogen dermatitis Autoimmune progesterone dermatitis Breast eczema Ear eczema Eyelid dermatitis Topical steroid addiction Hand eczema Chronic vesiculobullous hand eczema Hyperkeratotic hand dermatitis Autosensitization dermatitis / Id reaction Candidid Dermatophytid Molluscum dermatitis Circumostomy eczema Dyshidrosis Juvenile plantar dermatosis Nummular eczema Nutritional deficiency eczema Sulzberger–Garbe syndrome Xerotic eczema Pruritus / Itch / Prurigo Lichen simplex chronicus / Prurigo nodularis by location: Pruritus ani Pruritus scroti Pruritus vulvae Scalp pruritus Drug-induced pruritus Hydroxyethyl starch-induced pruritus Senile pruritus Aquagenic pruritus Aquadynia Adult blaschkitis due to liver disease Biliary pruritus Cholestatic pruritus Prion pruritus Prurigo pigmentosa Prurigo simplex Puncta pruritica Uremic pruritus Other substances taken internally: Bromoderma Fixed drug reaction Nummular dermatitis Pityriasis alba Papuloerythroderma of Ofuji v t e Other dermatological preparations ( D11 ) Anti-seborrheics Antiandrogens Bicalutamide Cyproterone acetate Flutamide Spironolactone Antifungals Bifonazole Cetrimonium bromide ( cetrimide ) Ciclopirox olamine (ciclopirox) Climbazole Clotrimazole Ketoconazole Miconazole Piroctone olamine Selenium disulfide (selenium sulfide) Xenysalate Zinc pyrithione (pyrithione zinc) Antihistamines Calcineurin inhibitors Cyclosporin Pimecrolimus Tacrolimus Isotretinoin Keratolytics Coal tar Resorcinol Salicylic acid Sulfur Urea ( urea-containing cream ) Lithium salts Lithium gluconate Lithium succinate Topical corticosteroids (e.g., hydrocortisone ) Skin lightening Hydroquinone Mequinol Monobenzone Skin darkening Afamelanotide Melanotan II Anti-inflammatories Oxaceprol Gamolenic acid Pimecrolimus Tacrolimus Alitretinoin Topical corticosteroids (e.g., hydrocortisone ) Alopecia treatments 5α-Reductase inhibitors Alfatradiol Dutasteride Finasteride Saw palmetto extract Antiandrogens Bicalutamide Cyproterone acetate Flutamide Spironolactone Topilutamide (fluridil) Potassium channel openers Minoxidil Others Nepidermin Hair growth inhibitors 5α-Reductase inhibitors Dutasteride Finasteride Antiandrogens Bicalutamide Cyproterone acetate Flutamide Spironolactone Eflornithine Others Androgens (e.g., testosterone ) Brimonidine Calcium gluconate Estrogens (e.g., estradiol ) Hyaluronic acid Magnesium sulfate Pregnenolone acetate Progestogens (e.g., progesterone ) Povidone-iodine Tiratricol Medicine portal
    ARVCF, TBX1, KIAA1324L, JMJD1C, TMC8, CARMIL2, ZNF750, MCCC2, TMC6, TRAF3IP2, CIB1, RBM8A, SEC24C, XPA, UFD1, BTD, HIRA, SLCO2A1, IL7, COMT, GP1BB, GRM3, HPGD, MAST4, PIK3CA, RREB1, ATOD1, MPZL3, IL17A, CXCL8, ANP32B, NFE2L2, TNF, IL1A, TNFSF13, POMC, GABPA, EPGN, IL1B
    • Seborrheic Dermatitis Mayo Clinic
      Overview Seborrheic (seb-o-REE-ik) dermatitis is a common skin condition that mainly affects your scalp. It causes scaly patches, inflamed skin and stubborn dandruff. It usually affects oily areas of the body, such as the face, sides of the nose, eyebrows, ears, eyelids and chest. This condition can be irritating but it's not contagious, and it doesn't cause permanent hair loss. Seborrheic dermatitis may go away without treatment. Or you may need to use medicated shampoo or other products long term to clear up symptoms and prevent flare-ups. Seborrheic dermatitis is also called dandruff, seborrheic eczema and seborrheic psoriasis.
  • Urinary Incontinence Wikipedia
    Urge urinary incontinence, is caused by uninhibited contractions of the detrusor muscle , a condition known as overactive bladder syndrome . It is characterized by leaking of large amounts of urine in association with insufficient warning to get to the bathroom in time. ... Neurogenic disorders like multiple sclerosis , spina bifida , Parkinson's disease , strokes and spinal cord injury can all interfere with nerve function of the bladder. [17] This can lead to neurogenic bladder dysfunction Overactive bladder syndrome . However, the etiology behind this is usually different between men and women, as mentioned above. ... This incontinence is associated with sudden forceful contractions of the detrusor muscle (bladder muscle), leading to an intense feeling of urination, and incontinence if the person does not reach the bathroom on time. The syndrome is known as overactive bladder syndrome , and it's related to dysfunction of the detrusor muscle. [20] Children [ edit ] Voiding dysfunction Main article: Enuresis Urination, or voiding, is a complex activity. ... Urge incontinence is an involuntary loss of urine occurring while suddenly feeling the need or urge to urinate, usually secondary to overactive bladder syndrome . Overflow incontinence is the incontinence that happens suddenly without feeling an urge to urinate and without necessarily doing any physical activities. It is also known as under-active bladder syndrome. This usually happens with chronic obstruction of the bladder outlet or with diseases damaging the nerves supplying the urinary bladder.
    ADRA1A, MAPK1, IL1RAPL1, CNKSR2, DKK1, IQSEC2, ADNP, ATP13A2, ZFYVE26, FTSJ1, SUFU, ATXN10, CHMP2B, TOR1AIP1, SACS, COQ2, FLVCR1, ATL1, MID2, VCP, SLC9A6, COG5, ZNF41, USP7, USP9X, JRK, PEX11B, CACNA1H, CACNA1G, CYP7B1, ARHGEF6, FRMPD4, LRIG2, WASHC5, AP5Z1, MED12, STUB1, FARS2, RETREG1, BNC2, IFT57, ASXL3, VANGL1, C19orf12, SLC9A7, HS6ST2, TIMM50, RAB39B, NIPA1, CPT1C, HGSNAT, PTCHD1, ARX, NEXMIF, ZNF81, USP27X, SPG11, FUZ, PANK2, GBA2, PRDM8, GJC2, VANGL2, GATAD2B, HACE1, ALS2, TRPV4, ALG13, HPSE2, CXorf56, IRF2BPL, MTMR14, UPF3B, FA2H, ZNF711, ATXN8, MYF6, HEXB, NF2, NAGLU, BIN1, MECP2, KIF5A, KCND3, KCNC3, IGHMBP2, ARSA, HSPD1, HMBS, HLA-DRB1, HLA-DQB1, MNX1, HCFC1, CLCNKB, GRIN2B, GDI1, GBE1, GABRG2, GABRB3, GABRA1, FMR1, ACSL4, DNMT1, DNM2, DMD, DLG3, AUH, ADGRB2, ABCD1, NOTCH3, PAK3, PDCD1, TYROBP, TTR, TRIO, TSPAN7, AGTR2, TBP, TBCD, TBXT, SYP, SPG7, SPAST, SMARCB1, SLC20A2, SLC16A2, SLC12A3, SLC2A1, SGSH, CCL2, SCN9A, SCN8A, ATXN8OS, RYR1, RTN2, RPS6KA3, ALDH18A1, PSAP, HTRA1, PDGFRB, PDGFB, CLCN4, VIP, COL1A1, COL3A1, DCN, HTR2A, VIPR1, NPY, TGFB1, A2M
    • Urinary Incontinence Mayo Clinic
      Overview Urinary incontinence — the loss of bladder control — is a common and often embarrassing problem. The severity ranges from occasionally leaking urine when you cough or sneeze to having an urge to urinate that's so sudden and strong you don't get to a toilet in time. Though it occurs more often as people get older, urinary incontinence isn't an inevitable consequence of aging. If urinary incontinence affects your daily activities, don't hesitate to see your doctor. For most people, simple lifestyle and dietary changes or medical care can treat symptoms of urinary incontinence.
  • Spinocerebellar Ataxia Type 7 GeneReviews
    Lower motor neuron involvement (fasciculations, weakness w/muscle wasting, areflexia, distal sensory loss) Sensory loss 40% ↓ sensation to light touch, pinprick, &/or joint position Restless leg syndrome 35% Discomfort in legs resulting in uncontrollable urge to move one’s legs, typically worse in evening or nighttime Cognitive decline 20% Impaired executive function Behavior disorder/ Psychosis 10% Altered mentation Impaired reality testing Cone-rod dystrophy 70% Loss of central vision & color vision Abnormal fundoscopic exam Neurologic findings. ... Disorders with Retinal Degeneration in the Differential Diagnosis of Spinocerebellar Ataxia Type 7 View in own window Gene(s) Disorder MOI Eye Findings Neurologic & Pathologic Findings Distinguishing Features CRX Cone-rod dystrophy 2 (OMIM 120970) AD Impaired color vision; central scotoma No neurologic findings No neurologic findings MT-ND1 MT-ND4 MT-ND6 1 Leber hereditary optic neuropathy Mat Impaired color vision; central scotoma No neurologic findings Usually midlife presentation OPA3 Costeff syndrome (3-methylglutaconic aciduria type 3) AR Bilateral optic atrophy Chorea, spastic paraparesis, mild ataxia Optic atrophy in childhood (age <10 yrs) Common in persons of Iraqi Jewish origin due to founder variant WFS1 CISD2 Wolfram syndrome (See WFS1 Wolfram Syndrome Spectrum Disorder.) ... Bladder function History of spastic bladder symptoms: urgency, frequency, difficulty voiding Referral to urologist Consider urodynamic eval. Restless legs syndrome Obtain comprehensive history w/emphasis on triggering & relieving factors. ... Cognitive/ Psychiatric Assess for cognitive dysfunction assoc w/cerebellar cognitive & affective syndrome (executive function, language processing, visuospatial / visuoconstructional skills, emotion regulation) Consider use of: CCAS scale 2 to evaluate cognitive & emotional involvement; Psychiatrist, psychologist, neuropsychologist if needed. ... Botulinum toxin injections should be reserved for severe or unresponsive bladder dysfunction. Restless legs syndrome Pharmacologic treatment Levodopa or dopamine agonist Chronic pain Requires specialist eval & management Refer to pain clinic or pain specialist.
    ATXN7, ATXN1, ATXN2, CACNA1A, RUBCN, PPP2R2B, PRKCG, CWF19L1, ANO10, WWOX, SNX14, MME, TDP2, SPTBN2, CIC, TRPC3, AFG3L2, NOP56, STUB1, SCYL1, CACNA1G, FOXC1, VWA3B, ELOVL5, UBA5, CCDC88C, RBM17, TGM6, TTBK2, ATXN1L, SYT14, GRM1, GRID2, GFI1, ATXN3, LY6E, SUMO2, KAT2A, RELN, TPP1, CASP7, NOX1, DNAJB1P1, SMG1, PCP2, CTCF, PRPF8, SPTLC3, APLP2, TAF2, ATG12, HDAC3, CASP3, CRX, CTSD, DPYSL3, ATN1, GUCA1A, HTT, DNAJA1, HSPA4, DNAJB1, IFNB1, ENPP2, PDYN, PML, PRNP, RNF4, RPE65, ATXN8OS, SLC1A3, TBP, TP53, SUMO1, TRRAP, ULK1, SUPT3H, SCAANT1
    • Spinocerebellar Ataxia 7 GARD
      Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia ; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones.
    • Spinocerebellar Ataxia 7 OMIM
      Retinal degeneration began in the macular area and progressed to the periphery. Reports of the same syndrome were found in the literature, e.g., Alfano and Berger (1957).
    • Spinocerebellar Ataxia Type 7 Orphanet
      An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Epidemiology The disorder is estimated worldwide prevalence is less than 1/100,000 and it is thought to account for 2-4% of all forms of the disease(up to 7% in Asian populations). Higher prevalence is described in some populations such as in Scandinavia or South Africa. Clinical description Onset of Spinocerebellar ataxia type 7 (SCA7) is generally in the second to fourth decade but can range from infancy to the sixth decade of life. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones.
  • Astigmatism Wikipedia
    Astigmatism at Curlie 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 Authority control NDL : 00569289 Medicine portal
    TYR, CASC15, CACNA1F, ARCN1, PRRX2, ANKRD11, SLC25A24, VSX1, SMARCAL1, WAC, MBTPS2, P4HTM, PRMT7, TRAF3IP1, PHIP, FANCL, RFWD3, SETD5, UBE2T, NIPBL, AUTS2, NPLOC4, VAX2, ADNP, PACS2, POGZ, EMC1, ARSG, KDM5B, CLDN16, MAD2L2, ECEL1, ARHGEF2, AP3D1, CDK13, FANCI, MBD5, RNF113A, CHRDL1, PROX1-AS1, RNU4ATAC, MIR184, GTF2H5, BLOC1S3, ZDHHC24, EBF3, LVRN, KCNV2, SPATA5, CLDN19, MPLKIP, DNAJC21, SGSM1, UBE3B, MFF, LOXL3, SLX4, CHD6, CEP78, BRIP1, TRIM8, PALB2, CCDC28B, SLC39A8, PIEZO2, FANCM, CC2D2A, KIDINS220, ARID1B, USP9X, HERC2, XRCC2, ERCC4, H3-3A, VARS1, GTF2E2, GRIN2B, GNAQ, GLRB, FBN1, FANCG, FANCF, FANCB, FANCE, FANCD2, FANCC, FANCA, ERCC3, MAG, ERCC2, EGFR, DPYD, DNAH5, COL11A1, COL9A3, COL9A2, COL9A1, CHD4, CHD3, C1QBP, BRCA2, BRCA1, BBS1, HARS1, H1-4, MECP2, CHMP1A, CLRN1, TUB, TEAD1, TCF4, TBCE, RAD51C, RAD51, PTPN11, PDGFRA, PCYT1A, LINC02422, TRNS2, TRIM37, NEUROD2, GPR143, NFIX, MFT2, TNMD, CYLD, CCT, MT1L, OCA2, TWIST1, THOP1, ART1, LINC00273, MELTF, ATR, TYMS, TMTC3, TGFB2, STAR, SFPQ, FTMT, CCL21, IGFBP7, CREBZF, PLXNA2, PYCARD, APH1A, CCL1
    • Astigmatism Mayo Clinic
      Overview Astigmatism (uh-STIG-muh-tiz-um) is a common and generally treatable imperfection in the curvature of the eye that causes blurred distance and near vision. Astigmatism occurs when either the front surface of the eye (cornea) or the lens inside the eye has mismatched curves. Instead of having one curve like a round ball, the surface is egg-shaped. This causes blurred vision at all distances. Astigmatism is often present at birth and may occur in combination with nearsightedness or farsightedness. Often it's not pronounced enough to require corrective action. When it is, treatment options are corrective lenses or surgery.
    • Astigmatism OMIM
      Description Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position.
  • Dystonia Wikipedia
    The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige's syndrome . Segmental dystonias [ edit ] Segmental dystonias affect two adjoining parts of the body: [ citation needed ] Hemidystonia affects an arm and foot on one side of the body. ... It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome . Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. ... Sufferers may be diagnosed as having similar and perhaps related disorders including Parkinson's disease , essential tremor , carpal tunnel syndrome , temporomandibular joint disorder , Tourette's syndrome , conversion disorder or other neuromuscular movement disorders. ... Then, dystonia were reported in detail in 1911, when Hermann Oppenheim , [43] Edward Flatau and Wladyslaw Sterling described some Jewish children affected by a syndrome that was retrospectively considered to represent familial cases of DYT1 dystonia. ... During the following years it became evident that dystonia syndromes are numerous and diversified, new terminological descriptors (e.g., dystonia plus, heredodegenerative dystonias, etc.) and additional classification schemes were introduced.
    KMT2B, GNAL, THAP1, PRKRA, TOR1A, GLRA1, ALDH5A1, ATCAY, PENK, ATP2B4, LRP2, PANK2, TH, GCH1, SGCE, MCF2L, TUBB4A, ATP1A3, TAF1, DST, CACNA1A, PLA2G6, ND6, HPCA, PRKN, ATXN3, ATXN1, TIMM8A, DRD2, ANO3, BDNF, SLC30A10, LY6E, NIF3L1, ATXN2, ARX, ADCY5, ADAR, ATP13A2, HSPA8, LRRC7, SLC2A1, SLC6A3, COL6A3, ANPEP, TRAF3, TOR1AIP1, CIZ1, PRRT2, NELFE, SCN8A, FA2H, DPEP1, DNAJC12, GCDH, ATXN7, DYT7, ALS2, ABCB6, PDE10A, TBP, TOR1B, BCAP31, COQ8A, WDR45, ARSG, SLC39A14, SUCLA2, ACTB, POLG, HLA-DQB1, ATM, POTEF, TPP1, TOR1AIP2, DRD1, LRRK2, COX20, GRM5, SERAC1, MECP2, PINK1, HIBCH, DYT17, SMUG1, TBC1D24, SLC12A5, COA6, DYT15, KLHL14, FBXO7, TSEN54, KCNT1, PNKD, NDUFAF6, SLC39A8, VAC14, ZNF415, SCNM1, PANK1, CYP2U1, GCNA, SAR1A, C19orf12, APTX, SLC19A3, NUBPL, ATAD3A, ZC4H2, DCAF17, KCTD17, NMS, TFDP1, CAMTA2, GABRA1, HSPA4, HPD, HLA-B, HCFC1, GSN, GPI, GLB1, GDF10, GAD1, GABRG2, GABRB3, EMD, SETX, EEF1A2, ECHS1, DRD5, DNTT, DBT, DBH, CRH, CASP3, CACNA1B, ATP7B, APOE, HSPA5, KCND3, KCNJ6, COX2, ARFGEF2, TUBB3, SCO2, POLR1C, ZFYVE9, SQSTM1, RGS9, ZNF142, HSP90B2P, NKX2-1, ACY1, SLC20A2, SLC18A2, SLC6A8, SCP2, RBBP6, PSEN1, PDHA1, PDE2A, OPRM1, NDUFA9, ND3, ND1, DYT23
    • Dystonia Mayo Clinic
      Dystonia can also be a symptom of another disease or condition, including: Parkinson's disease Huntington's disease Wilson's disease Traumatic brain injury Birth injury Stroke Brain tumor or certain disorders that develop in some people with cancer (paraneoplastic syndromes) Oxygen deprivation or carbon monoxide poisoning Infections, such as tuberculosis or encephalitis Reactions to certain medications or heavy metal poisoning Complications Depending on the type of dystonia, complications can include: Physical disabilities that affect your performance of daily activities or specific tasks Difficulty with vision that affects your eyelids Difficulty with jaw movement, swallowing or speech Pain and fatigue, due to constant contraction of your muscles Depression, anxiety and social withdrawal Diagnosis To diagnose dystonia, your health care provider may start with a medical history and physical examination.
  • Multifocal Lymphangioendotheliomatosis Wikipedia
    ISBN 0-7216-2921-0 . v t e Tumours of blood vessels Blood vessel Hemangiosarcoma Blue rubber bleb nevus syndrome Hemangioendothelioma Composite Endovascular papillary Epithelioid Kaposiform Infantile Retiform ) Spindle cell Proliferating angioendotheliomatosis Hemangiopericytoma Venous lake Kaposi's sarcoma African cutaneous African lymphadenopathic AIDS-associated Classic Immunosuppression-associated Hemangioblastoma Hemangioma Capillary Cavernous Glomeruloid Microvenular Targeted hemosiderotic Angioma Cherry Seriginosum Spider Tufted Universal angiomatosis Angiokeratoma of Mibelli Angiolipoma Pyogenic granuloma Lymphatic Lymphangioma / lymphangiosarcoma Lymphangioma circumscriptum Acquired progressive lymphangioma PEComa Lymphangioleiomyomatosis Cystic hygroma Multifocal lymphangioendotheliomatosis Lymphangiomatosis Either Angioma / angiosarcoma Angiofibroma This Dermal and subcutaneous growths article is a stub .
  • Pterygium Colli, Isolated OMIM
    Graham and Smith (1981) described an 11-week old infant evaluated for possible XO Turner syndrome because of pterygium colli. She also showed low posterior hair line, protruding ears with an uplifted lower pinna bilaterally, loose facial skin, epicanthal folds, and a short nose.
  • Hyperlipidemia, Familial Combined, 2 OMIM
    Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018).
  • Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa OMIM
    Megarbane et al. (2006) distinguished the disorder in this family from other syndromes with skeletal dysplasia and eye abnormalities.
  • Migraine With Or Without Aura, Susceptibility To, 10 OMIM
    For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300). Mapping Since migraine is a syndrome instead of a clearly differentiated disease, Anttila et al. (2006) hypothesized that individual clinical components of migraine (i.e., traits such as pulsating pain and photophobia, among others) might represent reflections of specific rather than shared loci and thus independently contribute to susceptibility to migraine.
  • Follicular Atrophoderma, Perioral Pigmented, With Milia And Epidermoid Cysts OMIM
    The patients' manifestations resembled those of Bazex-Dupre-Christol syndrome (BZX; 301845), but BZX is an X-linked disorder, has a different distribution of follicular atrophoderma, and has basal cell carcinoma and hypotrichosis as features.
  • Deafness, Conductive, With Malformed External Ear OMIM
    The authors noted similarities to the patients previously described by Mengel et al. (1969) and Cantu et al. (1978), but in light of the differences exhibited by their patients (microcephaly and facial abnormalities), they speculated that the latter might represent a new syndrome. Inheritance Consanguinity and affected sibs suggest autosomal recessive inheritance of this disorder (Mengel et al., 1969).
  • Neutrophil Migration OMIM
    Although random mobility was normal, chemotaxis of leukocytes from the patients and their fathers was deficient. (In the 'lazy leukocyte syndrome' (150550), random movement is also defective.)
  • Angiofibroma Wikipedia
    External links [ edit ] Classification D ICD - 10 : D10.6 ( ILDS D23.L75) ICD-O : M9160/0 MeSH : D018322 DiseasesDB : 32229 v t e Tumours of blood vessels Blood vessel Hemangiosarcoma Blue rubber bleb nevus syndrome Hemangioendothelioma Composite Endovascular papillary Epithelioid Kaposiform Infantile Retiform ) Spindle cell Proliferating angioendotheliomatosis Hemangiopericytoma Venous lake Kaposi's sarcoma African cutaneous African lymphadenopathic AIDS-associated Classic Immunosuppression-associated Hemangioblastoma Hemangioma Capillary Cavernous Glomeruloid Microvenular Targeted hemosiderotic Angioma Cherry Seriginosum Spider Tufted Universal angiomatosis Angiokeratoma of Mibelli Angiolipoma Pyogenic granuloma Lymphatic Lymphangioma / lymphangiosarcoma Lymphangioma circumscriptum Acquired progressive lymphangioma PEComa Lymphangioleiomyomatosis Cystic hygroma Multifocal lymphangioendotheliomatosis Lymphangiomatosis Either Angioma / angiosarcoma Angiofibroma This Dermal and subcutaneous growths article is a stub .
    TSC1, TSC2, MEN1, CDKN1A, CDKN1B, CDKN2B, CDKN2C, NCOA2, MTOR, CTNNB1, AHRR, IGF2, TIMP1, ABL1, AURKA, STAT6, SPARC, TIMP2, AXIN2, TP53, S100A7, P4HA2, MED12, CIC, TBCK, CCL2, MLH1, RPS6, MYC, AHR, VCAN, CCN2, DCN, EGF, ERBB2, EREG, FOLH1, GSTM1, HRAS, LHCGR, MDM2, ACAN, FOXO4, MMP9, H19
  • Papular Mucinosis Of Infancy Wikipedia
    ISBN 978-1-4160-2999-1 . v t e Mucinosis / Lichen myxedematosus Localized lichen myxedematosus Discrete papular lichen myxedematosus Acral persistent papular mucinosis Self-healing papular mucinosis / Self-healing juvenile cutaneous mucinosis Papular mucinosis of infancy Atypical lichen myxedematosus Atypical tuberous myxedema Nodular lichen myxedematosus Other primary mucinoses Cutaneous focal mucinosis Cutaneous lupus mucinosis Eccrine mucinosis Alopecia mucinosa Perifollicular mucinosis Stiff skin syndrome Generalized lichen myxedematosus Secondary mucinoses Basal-cell carcinoma Granuloma annulare This cutaneous condition article is a stub .
    • Papular Mucinosis Of Infancy Orphanet
      Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.
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