Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

scholarly journals Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method

2007 ◽  
Vol 50 (9) ◽  
pp. 868 ◽  
Author(s):  
Sook Hyun Nam ◽  
Young Bae Son ◽  
Bo Lyun Lee ◽  
Jeehun Lee ◽  
Chang-seok Ki ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Clinical Characteristics ◽  
Molecular Genetic ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Congenital Myotonic Dystrophy

Differential diagnosis of nodules of the thyroid gland using the molecular genetic method

2020 ◽  
Vol 15 (2) ◽  
pp. 61-66
Author(s):  
G.A. Katanyan ◽  
V.M. Durleshter ◽  
L.G. Izmajlova ◽  
O.A. Zencova ◽  
L.G. Dryaeva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Thyroid Gland ◽  
Molecular Genetic ◽  
Molecular Genetic Method ◽  
Genetic Method

PRIMARY HYPOTHYROIDISM IN A HIGH-RISK NEUROBLASTOMA PATIENT AFTER 131I-MIBG THERAPY: A CLINICAL CASE REPORT AND LITERATURE REVIEW

2021 ◽  
Vol 100 (3) ◽  
pp. 258-266
Author(s):  
D.T. Utalieva ◽  
◽  
S.B. Babakhanova ◽  
E.Yu. Ilyina ◽  
N.A. Andreeva ◽  
...  
Keyword(s):  
Case Report ◽  
High Risk ◽  
Literature Review ◽  
Clinical Case ◽  
Molecular Genetic ◽  
High Risk Patient ◽  
Primary Hypothyroidism ◽  
High Dose ◽  
131I Mibg ◽  
Mibg Therapy

In recent decades, there has been marked progress in understanding the biology of the most common extracranial solid tumor of childhood – neuroblastoma (NB), which led to a significant improvement in treatment outcomes due to stratification of patients into risk groups, intensification of treatment of patients with metastatic disease and the presence of unfavorable molecular genetic markers. Survivors who have received multimodal therapies, including chemotherapy, high-dose therapy and autologous peripheral stem-cell transplantation, 131I-metaiodobenzylguanidine (131I-MIBG) therapy, radiation therapy, and immunotherapy have a high risk of developing long-term side effects of treatment (LT SE). The study of the nature and frequency of LT SE after completion of therapy in patients with NB is important to ensure the quality of life and minimize severe health disorders. This article presents a literature review and description of a clinical case report of primary hypothyroidism in a high-risk patient with NB who received multicomponent treatment, including 131I-metaiodobenzylguanidine therapy due to the persistence of MIBG-positive foci after the induction chemotherapy.

Congenital myotonic dystrophy pathology and somatic mosaicism

Neurology ◽  
1997 ◽  
Vol 49 (5) ◽  
pp. 1457-1460 ◽  
Author(s):  
J. T. Joseph ◽  
C. S. Richards ◽  
D. C. Anthony ◽  
M. Upton ◽  
A. R. Perez-Atayde ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Skeletal Muscles ◽  
Trinucleotide Repeat ◽  
Clinical Course ◽  
Molecular Genetic ◽  
Somatic Mosaicism ◽  
Molecular Genetic Analysis ◽  
Ctg Repeats ◽  
Cardiac Tissues ◽  
Congenital Myotonic Dystrophy

We present the pathology and molecular genetic analysis of an infant with congenital myotonic dystrophy. The proband/infant, born at 35 weeks' gestational age to a mother with myotonic dystrophy and 750 CTG repeats, was markedly hypotonic and had severe cardiomyopathy. She died after 16 days of life. At autopsy, skeletal and heart muscles were immature and had a decrease in contractile elements. DNA CTG trinucleotide repeat analysis of the proband demonstrated 2,480 repeats in blood and a slightly greater number of repeats in skeletal muscles, viscera, and gray matter. Corresponding to the clinical course and pathology, cardiac tissues displayed somatic mosaicism, with repeats ranging from 2,760 to 3,220.

A Case of Scedosporium apiospermum Keratitis Confirmed by a Molecular Genetic Method

2008 ◽  
Vol 28 (4) ◽  
pp. 307-311 ◽  
Author(s):  
Seoyoung Yoon ◽  
Sinyoung Kim ◽  
Kyung-A Lee ◽  
Heejung Kim
Keyword(s):  
Molecular Genetic ◽  
Scedosporium Apiospermum ◽  
Molecular Genetic Method ◽  
Genetic Method

scholarly journals Autochthon oder allochthon? Ein molekulargenetischer Ansatz am Beispiel der Eichen (Quercus spp.) in der Schweiz | Autochthon or allochthon? A molecular genetic method of determination using oak (Quercus spp.) in Switzerland as an example

2002 ◽  
Vol 153 (3) ◽  
pp. 91-96 ◽  
Author(s):  
Gábor Mátyás ◽  
Patrick Bonfils ◽  
Christoph Sperisen
Keyword(s):  
Genetic Resources ◽  
Spatial Patterns ◽  
Molecular Genetic ◽  
Alternative Methods ◽  
National Forest ◽  
Human Influence ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Method Of Determination ◽  
Quercus Spp

Autochthonous forests are considered to be valuable genetic resources, and their conservation is incorporated into many national forest programmes. The methods applied so far often do not allow to distinguish between autochthonous and allochthonous stands. Therefore, alternative methods are needed. In this study, we analyse spatial patterns of variation of chloroplast DNA to estimate the extent of the human influence on oak stands in Switzerland.

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