-
Charlie M Syndrome
Orphanet
Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet.
-
Mansonelliasis
Wikipedia
The specific species are M. perstans , M. streptocerca and M. ozzardi . [2] Vectors and life cycle [ edit ] Life Cycles of Various Mansonella During a blood meal, an infected midge (genus Culicoides ) or blackfly (genus Simulium ) introduces third-stage filarial larvae onto the skin of the human host, where they penetrate into the bite wound. They develop into adults that reside in body cavities, most commonly the peritoneal cavity or pleural cavity, but also occasionally in the pericardium ( M. perstans ), subcutaneous tissue ( M. ozzardi ) or dermis ( M. steptocerca ). [1] In M. perstans , size range for female worms is 70 to 80 mm long and 120 μm in diameter, and the males measure approximately 45 mm by 60 μm. In M. steptocerca , the females measure approximately 27 mm long. ... Males measure 50 μm in diameter. In M. ozzardi , adult worms are rarely found in humans. ... PMID 9660471 . ^ a b c Post RJ, Adams Z, Shelley AJ, Maia-Herzog M, Luna Dias AP, Coscarón S (July 2003).
-
Tuberculous Pericarditis
Wikipedia
.; Ntsekhe, Mpiko; Thabane, Lehana; Volmink, Jimmy; Majombozi, Dumisani; Gumedze, Freedom; Pandie, Shaheen; Mayosi, Bongani M. (13 September 2017). "Interventions for treating tuberculous pericarditis" . ... PMID 28902412 . ^ Mayosi BM. (2002). Mayosi, Bongani M (ed.). "Interventions for treating tuberculous pericarditis" . ... External links [ edit ] Classification D MeSH : D010495 v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalis v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
-
Tuberculosis Verrucosa Cutis
Wikipedia
Classification D ICD - 10 : A18.4 ( ILDS A18.440) ICD - 9-CM : 017.0 v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalis
-
Lepromatous Leprosy
Wikipedia
External links [ edit ] Classification D ICD - 10 : A30.5 ICD - 9-CM : 030.0 MeSH : D015440 DiseasesDB : 8478 v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalis This infection-related cutaneous condition article is a stub .IL10, TNF, TLR2, RBM45, HLA-DRB1, IL17A, IFNG, IL6, CD163, IFNGR1, ICAM1, VDR, KIR3DL1, IL1B, FOXP3, MBL2, CD40, CD40LG, GEM, VCAM1, TFRC, CNBP, TSC2, TSC1, SRA1, SOX9, SLAMF1, ARHGEF2, SELE, CCL18, EIF2AK3, TP63, PLIN2, RABEPK, LANCL1, KIR2DS2, ARMH1, MIF-AS1, NLRP3, UBASH3B, SCAF1, IL23A, MBL3P, IL37, CYFIP1, ATF6, NLRP1, EBNA1BP2, MASP2, CHERP, PSMD7, C1D, CCL17, MEFV, MAPK1, PLIN1, ICAM2, HSPA5, HP, HMOX1, HLA-DQA1, FLNA, FCN1, DPEP1, DEFB1, CTLA4, CD74, CD68, CD80, CD28, CD1D, CASP1, ARG1, IL1R1, IL2RA, IL9, KIR2DS3, OMD, NGFR, NGF, MIF, ANXA6, LRP1, RPSA, KIR2DS1, IL12B, KIR2DL2, KIR2DL1, ISG20, IL18, IL13, IL12RB2, IL12RB1, H3P28
-
Erythema Induratum
Wikipedia
External links [ edit ] Media related to Erythema induratum at Wikimedia Commons PatientPlus Classification D ICD - 10 : A18.4 ( ILDS A18.482) ICD - 9-CM : 017.1 MeSH : D004891 DiseasesDB : 1272 SNOMED CT : 2028007 External resources eMedicine : derm/135 v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalis v t e Disorders of subcutaneous fat Panniculitis Lobular without vasculitis Cold Cytophagic histiocytic Factitial Gouty Pancreatic Traumatic needle-shaped clefts Subcutaneous fat necrosis of the newborn Sclerema neonatorum Post-steroid panniculitis Lipodermatosclerosis Weber–Christian disease Lupus erythematosus panniculitis Sclerosing lipogranuloma with vasculitis: Nodular vasculitis / Erythema induratum Septal without vasculitis: Alpha-1 antitrypsin deficiency panniculitis Erythema nodosum Acute Chronic with vasculitis: Superficial thrombophlebitis Lipodystrophy Acquired generalized: Acquired generalized lipodystrophy partial: Acquired partial lipodystrophy Centrifugal abdominal lipodystrophy HIV-associated lipodystrophy Lipoatrophia annularis localized: Localized lipodystrophy Congenital Congenital generalized lipodystrophy Familial partial lipodystrophy Marfanoid–progeroid–lipodystrophy syndrome Poland syndrome This infection-related cutaneous condition article is a stub .
-
Immunoglobulin M, Level Of
Omim
Grundbacher (1972) suggested that genes on the X chromosome determine the quantity of immunoglobulin M, because the concentration in serum is one-third higher in females than in males and intrafamilial correlations are higher between sons and mothers than between sons and fathers. ... Escobar et al. (1979) measured serum concentrations of immunoglobulins G, A and M in 93 pairs of monozygotic twins, their spouses and their offspring. ... Misc - IgM deficiency predisposition to meningococcal meningitis Immunology - Immunoglobulin M quantity Inheritance - X-linked ▲ Close
-
Paratuberculosis
Wikipedia
This is a means of "educating" the cells in a young animal about its environment, and is a protective mechanism designed to help the animal become immune to pathogens in its environment. [ citation needed ] Unfortunately, when M cells bring M. paratuberculosis to the Peyer's patch, the bacteria find an ideal place for growth. Macrophages in Peyer's patches engulf M. paratuberculosis for the purpose of destroying the foreign invader, but for reasons yet unclear, these macrophages fail to do this. Inside a macrophage, M. paratuberculosis multiplies until it eventually kills the cell, spreads, and infects other nearby cells. ... Beef Cattle Research Council. ^ Collins M. and Manning E. "Johne's Information Center" The University of Wisconsin-School of Veterinary Medicine. 13 March 2003. ^ Furber, Debbie (16 December 2016). ... External links [ edit ] Classification D MeSH : D010283 DiseasesDB : 33739 USDA Johne's resource page University of Wisconsin School of Veterinary Medicine Johne's Information Center Paratuberculosis at Curlie v t e Gram-positive bacterial infection : Actinobacteria Actinomycineae Actinomycetaceae Actinomyces israelii Actinomycosis Cutaneous actinomycosis Tropheryma whipplei Whipple's disease Arcanobacterium haemolyticum Arcanobacterium haemolyticum infection Actinomyces gerencseriae Propionibacteriaceae Propionibacterium acnes Corynebacterineae Mycobacteriaceae M. tuberculosis / M. bovis Tuberculosis : Ghon focus / Ghon's complex Pott disease brain Meningitis Rich focus Tuberculous lymphadenitis Tuberculous cervical lymphadenitis cutaneous Scrofuloderma Erythema induratum Lupus vulgaris Prosector's wart Tuberculosis cutis orificialis Tuberculous cellulitis Tuberculous gumma Lichen scrofulosorum Tuberculid Papulonecrotic tuberculid Primary inoculation tuberculosis Miliary Tuberculous pericarditis Urogenital tuberculosis Multi-drug-resistant tuberculosis Extensively drug-resistant tuberculosis M. leprae Leprosy : Tuberculoid leprosy Borderline tuberculoid leprosy Borderline leprosy Borderline lepromatous leprosy Lepromatous leprosy Histoid leprosy Nontuberculous R1 : M. kansasii M. marinum Aquarium granuloma R2 : M. gordonae R3 : M. avium complex / Mycobacterium avium / Mycobacterium intracellulare / MAP MAI infection M. ulcerans Buruli ulcer M. haemophilum R4 / RG : M. fortuitum M. chelonae M. abscessus Nocardiaceae Nocardia asteroides / Nocardia brasiliensis / Nocardia farcinica Nocardiosis Rhodococcus equi Corynebacteriaceae Corynebacterium diphtheriae Diphtheria Corynebacterium minutissimum Erythrasma Corynebacterium jeikeium Group JK corynebacterium sepsis Bifidobacteriaceae Gardnerella vaginalisAOC3, C1R, C3, F2, TF, GSN, SLC11A1, SGSM3, NOD2, FN1, TLR4, NT5C3A, ANXA2, MNAT1, IL10, IFNG, SLC30A10, H3C9P, SLC30A8, IBD5, ST18, TLR2, MIR27A, IRGM, CCN6, CDK5R1, PHGDH, ATG16L1, LAMP3, AGO2, CDCA5, CD274, VSX1, NTM, ANXA1, RNR1, SLC22A4, CXCL8, ARSA, BGLAP, CAMP, CAT, DAG1, ENPEP, FCN2, GCHFR, HPD, HSPD1, IL10RA, RELA, IL12A, IL12B, IDO1, INS, IRF5, LSAMP, LYZ, MBP, MYD88, PTGS2, UPK3B
-
Cortisone Reductase Deficiency
Wikipedia
M.; Arlt, W; Stewart, P. M. (2008). ... A.; Bujalska, I. J.; Tomlinson, J. W.; Chalder, S. M.; Arlt, W; Lavery, G. G.; Bedendo, O; Ray, D. W.; Laing, I; Malunowicz, E; White, P. C.; Hewison, M; Mason, P. J.; Connell, J. M.; Shackleton, C. ... A.; Bujalska, I. J.; Tomlinson, J. W.; Chalder, S. M.; Arlt, W; Lavery, G. G.; Bedendo, O; Ray, D. W.; Laing, I; Malunowicz, E; White, P. C.; Hewison, M; Mason, P. J.; Connell, J. M.; Shackleton, C.
-
Pulmonary Hyalinizing Granuloma
Wikipedia
PMID 20592998 . ^ Arruda, G. D.; Carvalho, P. C.; Andrade, M. P.; Cusmanich, M. C.; Bandeira, G; Tozaki, F. ... PMID 21085833 . ^ Brandão, V; Marchiori, E; Zanetti, G; Abdalla, G; Ventura, N; Constantino, C. L.; Pereira, M. L.; Martins, P; Canellas, R; Muccillo, A; Varella De Oliveira, R (2010). ... PMID 20592998 . ^ Liu, T; Kyrollos, M; Kravcik, S (2007). "Pulmonary hyalinizing granuloma in HIV/AIDS" . ... PMID 18923729 . ^ Esme, H; Ermis, S. S.; Fidan, F; Unlu, M; Dilek, F. H. (2004). "A case of pulmonary hyalinizing granuloma associated with posterior uveitis" . ... PMID 15329468 . ^ Atagi, S; Sakatani, M; Akira, M; Yamamoto, S; Ueda, E (1994).
-
Mitochondrial Dna-Associated Leigh Syndrome And Narp
Gene_reviews
Yamashita et al [2008] 8. The variant m.8993T>G is most common; m.8993T>C has also been described [Rantamäki et al 2005]. 9. ... Molecular Genetics of mtDNA-Associated Leigh Syndrome and NARP: Less Common Genetic Causes View in own window Gene 1, 2 Comments References MT-CO3 3 probands: 2 w/variant m.9478T>C, 1 w/variant m.9357insC Tiranti et al [2000], Mkaouar-Rebai et al [2011] MT-ND1 9 probands (only 1 w/LLS): 4 probands w/var m.3697G>A, 2 w/var m.3980G>A, 1 w/var m.3928G>C LS, 1 w/var m.3308T>C, 1 w/var m.3688G>A Campos et al [1997], Moslemi et al [2008], Valente et al [2009], Caporali et al [2013], Wray et al [2013], Negishi et al [2014], Spangenberg et al [2016] MT-ND2 2 probands w/var m.4681T>C Hinttala et al [2006], Ugalde et al [2007] MT-ND4 8 probands: 4 w/var m.1777C>A, 1 w/var m.11984T>C, 1 w/var m.11240C>T, 1 w/var m.11246G>A, 1 path var not specified Komaki et al [2003], Bugiani et al [2004], Vanniarajan et al [2006], Hadzsiev et al [2010], Uehara et al [2014], Han et al [2015], Xu et al [2017] MT-TI 4 probands: 2 w/var m.4296G>A, 2 sibs w/var m.4290T>C Limongelli et al [2004], Cox et al [2012], Martikainen et al [2013] MT-TK 12 probands w/Leigh syndrome: all w/var m.8344A>G Berkovic et al [1989], Zeviani et al [1991], Silvestri et al [1993], Rahman et al [1996], Buda et al [2013] MT-TL1 2 probands w/var . m.3243A>G Vilarinho et al [1997] MT-TL2 2 sibs w/var m.12311T>C Veerapandiyan et al [2016] MT-TV 5 probands: 4 w/LS & homoplasmic pathogenic variants (1 w/var m.1624C>T, 3 w/var m.1644G>A), 1 proband w/NARP & 71% abnormal mtDNA (m.1606G>A) Chalmers et al [1997], McFarland et al [2002], Sacconi et al [2002], Fraidakis et al [2014] MT-TW 6 probands w/LS: 3 w/an insertion at position 5537, 2 w/var m.5559A>G, 1 w/var m.5523T>G Santorelli et al [1997], Tulinius et al [2003], Mkaouar-Rebai et al [2009], Duff et al [2015] Pathogenic variants of any one of the genes listed in this table are reported in only a few families (i.e., <1% of mtDNA-associated Leigh syndrome and NARP). ... Estimated probability of a severe outcome (95% CI) for an individual with the mtDNA m.8993T>G or m.8993T>C variant, based on the proportion of abnormal mtDNA (mutant load) in the individual. ... Note: Overlap in the proportion of abnormal mtDNA is observed between some asymptomatic individuals and others with NARP, and between some individuals with NARP and others with Leigh syndrome. m.8993T>C is a less severe variant than m.8993T>G, and virtually all symptomatic individuals with m.8993T>C ve more than 90% abnormal mtDNA. Genotype-phenotype correlations are much weaker for other mtDNA pathogenic variants detected in multiple unrelated individuals with Leigh syndrome (e.g., m.3243A>G in MT-TL1 , m.8344A>G in MT-TK , m.9176T>C in MT-ATP6 , m.14459G>A and m.14487T>C in MT-ND6 , m.10158T>C and m.10191T>C in MT-ND3 , and m.13513G>A in MT-ND5 ).
-
Neurotrophic Keratitis
Wikipedia
Eye 17 (2003) 989-995. ^ B.S. Shaheen, M. Bakir, and S. Jain, Corneal nerves in health and disease. ... Experimental Eye Research, 76 (2003) 521-542. ^ F. Semeraro, E. Forbice, V. Romano, M. Angi, M.R. Romano, M. E. Filippelli, R. ... Experimental Eye Research, 76(2003) 521-542. ^ F. Semeraro, E. Forbice, V. Romano, M. Angi, M.R. Romano, M. E. Filippelli, R. ... Experimental Eye Research, 76(2003) 521-542. ^ J. Gallar, T. M. Tervo, W. Neira, J. M. Holopainen, M. ... Semin Ophthalmol 29 (2014) 119-26. ^ Mastropasqua L, Massaro-Giordano G, Nubile M, Sacchetti M, Understanding the Pathogenesis of Neurotrophic Keratitis: The Role of Corneal Nerves.
-
Posttraumatic Embitterment Disorder
Wikipedia
Fortschritte der Psychotherapie". Hogrefe Verlag . ^ Linden, M.; Rotter, M.; Baumann, K.; Lieberei, B. ... Springer . ^ Linden, M.; Baumann, K.; Lieberei, B.; Lorenz, C.; Rotter, M. (2011). ... NeuroTransmitter . 3 : 63. ^ Linden, M.; Rotter, M.; Baumann, K.; Schippan, B. (2009). ... S2CID 21479673 . ^ a b Baumann, K.; Linden, M. "Weisheitstherapie". Verhaltenstherapiemanual (Springer) : 416–422. ^ Linden, M. ... PMC 3521113 . PMID 23251201 . ^ Linden, M.; Rotter, M.; Baumann, K.; Lieberei, B.
-
Familial Hemiplegic Migraine
Wikipedia
S2CID 23340019 . ^ a b c d e Ophoff R, Terwindt G, Vergouwe M, van Eijk R, Oefner P, Hoffman S, Lamerdin J, Mohrenweiser H, Bulman D, Ferrari M, Haan J, Lindhout D, van Ommen G, Hofker M, Ferrari M, Frants R (1996). ... J Biol Chem . 273 (10): 5586–90. doi : 10.1074/jbc.273.10.5586 . PMID 9488686 . ^ a b c d e Hans M, Luvisetto S, Williams M, Spagnolo M, Urrutia A, Tottene A, Brust P, Johnson E, Harpold M, Stauderman K, Pietrobon D (1999). ... S2CID 26855561 . ^ Carrera P, Piatti M, Stenirri S, Grimaldi L, Marchioni E, Curcio M, Righetti P, Ferrari M, Gelfi C (1999). ... PMID 15459825 . S2CID 1480291 . ^ Kaunisto M, Harno H, Vanmolkot K, Gargus J, Sun G, Hämäläinen E, Liukkonen E, Kallela M, van den Maagdenberg A, Frants R, Färkkilä M, Palotie A, Wessman M (2004). ... PMID 20798035 . ^ Arias-Rivas S, Rodríguez-Yañez M, Cortés J, Pardo-Parrado M, Aguiar P, Leira R, Castillo J, Blanco M (2012).
-
Paroxysmal Tonic Upgaze
Wikipedia
Videotaping a child both in and out of the upgaze state can be vital for reaching a diagnosis. [4] References [ edit ] ^ Hayman, M.; Harvey, A. S.; Hopkins, I. J.; Kornberg, A. ... PMID 9546334 . ^ Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M (2019) Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition. Eur J Paediatr Neurol ^ Quade A, Thiel A, Kurth I, Holtgrewe M, Elbracht M, Beule D, Eggermann K, Scholl UI, Häusler M (2019) Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.
-
Tuberculin Skin Test Reactivity, Absence Of
Omim
Description The tuberculin skin test (TST), or Mantoux test, measures induration of the skin after intradermal inoculation of M. tuberculosis purified protein derivative and thereby detects M. tuberculosis-infected and -noninfected persons. ... About 20% of individuals living in areas hyperendemic for tuberculosis show persistent absence of TST reactivity, suggesting T cell-independent resistance to M. tuberculosis infection. Genetic epidemiologic studies in endemic areas have suggested that host genetic factors contribute to resistance to M. tuberculosis infection and to the immune reactions underlying TST reactivity (summary by Cobat et al., 2009). ... Cobat et al. (2009) proposed that TST1 represents a major locus for T cell-independent resistance to M. tuberculosis, since a substantial portion of individuals who exhibit absence of TST reactivity are most likely resistant to M. tuberculosis infection.
-
Umbilical Cord Ulceration And Intestinal Atresia
Wikipedia
September 2006. ORPHA3405. ^ Ohyama M, Itani Y, Yamanaka M, et al. (May 2000). ... Placenta . 21 (4): 432–5. doi : 10.1053/plac.1999.0480 . PMID 10833382 . ^ Yamanaka M, Ohyama M, Koresawa M, Kawataki M, Ohsaki I, Tanaka Y (December 1996).
-
Hereditary Motor And Sensory Neuropathy With Proximal Dominance
Wikipedia
A.; Ito, H.; Sobue, G.; Nakagawa, M.; Kaji, R.; Tsuji, S. (2012). "The TRK-Fused Gene is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement" . ... Further reading [ edit ] Patroclo, C. B.; Lino, A. M. M.; Marchiori, P. E. P.; Brotto, M. R. W. I.; Hirata, M. T. A. (2009). "Autosomal dominant HMSN with proximal involvement: New Brazilian cases" . ... PMID 19838524 . Lee, S. S.; Lee, H. J.; Park, J. M.; Hong, Y. B.; Park, K. D.; Yoo, J. H.; Koo, H; Jung, S. C.; Park, H. S.; Lee, J. H.; Lee, M. G.; Hyun, Y. S.; Nakhro, K; Chung, K.
-
Hypomagnesemia With Secondary Hypocalcemia
Wikipedia
Footnotes [ edit ] ^ a b c d e Walder R, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger M, Beck G, Englehardt R, Carmi R, Sheffield V (2002). ... PMID 12032570 . ^ a b c d e f g Schlingmann K, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth H, Konrad M (2002). ... PMID 12032568 . ^ Chubanov V, Waldegger S, Mederos y Schnitzler M, Vitzthum H, Sassen M, Seyberth H, Konrad M, Gudermann T (2004). ... PMID 14976260 . ^ a b c d e f g h i j k l m n o p q r s t u v w Schlingmann K, Sassen M, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble J, Cole D, Metzger D, Rahman S, Tajima T, Shu S, Waldegger S, Seyberth H, Konrad M (2005). ... J Am Soc Nephrol . 16 (10): 3061–9. doi : 10.1681/ASN.2004110989 . PMID 16107578 . ^ Li M, Jiang J, Yue L (2006). "Functional Characterization of Homo- and Heteromeric Channel Kinases TRPM6 and TRPM7" .
-
Mycobacterium Malmoense
Gard
Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis ).