The Molecular Genetics and Clinical Manifestations of Heritable Osteoarthritis A Rheumatologist’s Guide

1995 ◽  
Vol 1 (3) ◽  
pp. 137-139
Author(s):  
Charlene J. Williams ◽  
Antonio J. Reginato
Keyword(s):  
Molecular Genetics ◽  
Clinical Manifestations

Shwachman–Diamond syndrome: Clinical manifestations and molecular genetics

2007 ◽  
Vol 148 (11) ◽  
pp. 513-519
Author(s):  
Melinda Erdős ◽  
László Maródi
Keyword(s):  
Molecular Genetics ◽  
Clinical Manifestations ◽  
Shwachman Diamond Syndrome

A Shwachman–Diamond-szindróma ritka, autoszomális recesszív öröklődésmenetű primer immunhiánybetegség, amelyre exocrin pancreaselégtelenség, metaphysealis dysostosis, növekedési retardáció, csontvelő-diszfunkció és visszatérő fertőzések jellemzők. A közleményben a szerzők ismertetik a betegség klinikumát, laboratóriumi eltéréseit, összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket és kezelésének lehetőségeit. Bemutatják egy Magyarországon elsőként diagnosztizált Shwachman–Diamond-szindrómában szenvedő gyermek kórtörténetét, akinek alapbetegségét genetikai vizsgálattal igazolták. A klinikai képet congenitalis neutropenia, az exocrin pancreaselégtelenség következtében kialakuló súlyos malabsorptiós szindróma és visszatérő, gennyes bőr-, illetve alsó- és felső légúti fertőzések jellemezték. A Shwachman–Diamond-szindróma génjén két új, az irodalomban korábban még nem leírt mutációt (c.362A > C, p.N121T és c.523C > T, p.R175W) találtak. A beteg gyermek születendő testvérében praenatalis genetikai vizsgálatot végeztek, amely hordozó állapotot igazolt. Ennek alapján az anya dönthetett a terhesség kihordásáról.

Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7)

Blood ◽  
2000 ◽  
Vol 96 (1) ◽  
pp. 374-374 ◽  
Author(s):  
Guglielmo Mariani ◽  
Falko H. Herrmann ◽  
Francesco Bernardi ◽  
Jean-Francois Schved ◽  
Gunther Auerswald ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Manifestations ◽  
Factor Vii ◽  
Factor Vii Deficiency ◽  
International Registry ◽  
Congenital Factor

Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7)

Blood ◽  
2000 ◽  
Vol 96 (1) ◽  
pp. 374-374 ◽  
Author(s):  
Guglielmo Mariani ◽  
Falko H. Herrmann ◽  
Francesco Bernardi ◽  
Jean-Francois Schved ◽  
Gunther Auerswald ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Clinical Manifestations ◽  
Factor Vii ◽  
Factor Vii Deficiency ◽  
International Registry ◽  
Congenital Factor

scholarly journals MODY in Siberia – molecular genetics and clinical characteristics

2017 ◽  
Vol 20 (1) ◽  
pp. 5-12
Author(s):  
Alla Konstantinovna Ovsyannikova ◽  
Oksana Dmitrievna Rymar ◽  
Elena Vladimirovna Shakhtshneider ◽  
Elena Nikolaevna Voropaeva ◽  
Dinara Evgenevna Ivanoshchuk ◽  
...  
Keyword(s):  
Carbohydrate Metabolism ◽  
Molecular Genetics ◽  
Clinical Characteristics ◽  
Early Stage ◽  
Molecular Genetic ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Oral Hypoglycaemic Agents ◽  
Monogenic Forms Of Diabetes

The diagnosis of maturity onset diabetes of the young (MODY) has high clinical significance in young patients (no absolute need for exogenous insulin; normoglycaemia in most patients achieved by dieting or taking oral hypoglycaemic agents) and their relatives (high probability of first-degree relatives being carriers of mutations, which requires a thorough collection of family history and determination of the parameters of carbohydrate metabolism). Aim. This study aimed was to determine the clinical characteristics of different subtypes of MODY in a Siberian region. Materials and Methods. We performed an examination, biochemical and hormonal blood tests, ultrasound and molecular genetic testing of 20 patients with a clinical diagnosis of MODY. Results. Four subtypes of MODY were verified: MODY2 in 11 patients, MODY3 in two, MODY8 in one and MODY12 in two. Eleven patients (69%) exhibited no clinical manifestations of carbohydrate metabolism disorders, and one patient showed weight loss during early stage of the disease. Comorbidities included dyslipidemia, thyroid gland disorders and arterial hypertension. One patient (6%) exhibited diabetic nephropathy; two (13%), diabetic retinopathy and three (19%), peripheral neuropathy of lower legs. All patients achieved the target carbohydrate metabolism; the level of C-peptide was within the reference range. Conclusion. Four different subtypes of MODY (2, 3, 8, 12) were diagnosed in the present study, which differed in their clinical characteristics, presence of complications and treatment strategies. Our knowledge of monogenic forms of diabetes is expanding with the development in molecular genetics, but several aspects related to them require further study.

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