scholarly journals MODY2 diagnostic issues in adults

2019 ◽  
Vol 22 (4) ◽  
pp. 384-391 ◽  
Author(s):  
Irina V. Kononenko ◽  
Anastasiya A. Glibka ◽  
Natalya A. Zubkova ◽  
Alexander Y. Mayorov ◽  
Anatoly N. Tyulpakov ◽  
...  
Keyword(s):  
Clinical Features ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Glucokinase Gene ◽  
Treatment Regimens ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Selection Of Patients ◽  
Selection Of

Approximately 90% of all cases of diabetes mellitus in adults involve type 2 diabetes, while the prevalence of maturity-onset diabetes of the young (MODY) remains undetermined leading to inappropriate treatment regimens. One of the most common monogenic forms of diabetes is a disease caused by a mutation in the glucokinase gene, MODY2. Knowledge of the clinical features of the disease allows the selection of patients with a high risk of mutation in the glucokinase gene and verification of diagnosis for molecular genetic research. This paper reflects the clinical features of MODY2 and the difficulties of diagnosis in adults. Furthermore, it presents a clinical case of a patient with MODY2 demonstrating all the features of this type of diabetes. A family member with a mutation in the gene allows to predict the nature of carbohydrate metabolism disorders in first degree relatives. A targeted study of only one part of the glucokinase gene in molecular genetic research is sufficient to confirm the diagnosis in relatives.

Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Treatment Options ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Inappropriate Treatment ◽  
Monogenic Forms Of Diabetes ◽  
Initial Description

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.

THE CLINICAL PRESENTATION OF SUBCLINICAL HYPOTHYROIDISM IN PATIENTS WITH TYPE 2 DIABETES MELLITUS ASSOCIATED WITH OBESITY, ITS IMPACT ON CARDIOVASCULAR RISK, AND WAYS OF ITS CORRECTION

2021 ◽  
Vol 74 (10) ◽  
pp. 2634-2639
Author(s):  
Taras I. Griadil ◽  
Ivan V. Chopey ◽  
Ksenia I. Chubirko ◽  
Snizhana V. Feysa
Keyword(s):  
Cardiovascular Risk ◽  
Heart Association ◽  
Additional Risk Factor ◽  
Additional Risk ◽  
Framingham Risk ◽  
Study Results ◽  
Ascvd Risk ◽  
Selection Of Patients ◽  
Selection Of

The aim: Calculate CVR in patients with T2DM, obesity and SH and analyze it. Materials and methods: The selection of patients was carried out based on the Uzhhorod District Clinical Hospital, in the period from November 2016 to July 2021. All examined patients were divided into 3 groups: 1 (n=108) with T2DM and concomitant obesity and SH, 2 (n=91) with T2DM and SH, 3 (n=46) with obesity and SH. The observation and treatment period lasted 1 year. Using American College of Cardiology (ACC) / American Heart Association Guideline on the Assessment of Cardiovascular Risk (AHAGACR) (2013) (ASCVD Risk) and Framingham Risk Score (FRS), CVR was determined in all patients before and at the end of the study. Results: According to the data obtained, patients in each group had a 10-year risk of CVE, however, worse CVR was observed in patients in group 1. In a more detailed analysis and comparison of the obtained data of patients with 10-year risk of CVE, worse CVR values were observed in patients with concomitant SH than without it (p<0.05). Conclusions: The presence of SH in consumers may be an additional risk factor for unwanted CVE over a 10-year period.

scholarly journals The use of genetic diversity in apple breeding for scab resistance

2019 ◽  
pp. 211-216
Author(s):  
E. V. Ulyanovskaya ◽  
I. I. Suprun ◽  
S. V. Tokmakov ◽  
K. M. Atabiyev ◽  
E. A. Belenko
Keyword(s):  
Molecular Genetic ◽  
Genetic Research ◽  
Scab Resistance ◽  
Apple Breeding ◽  
Long Term Study ◽  
Economically Valuable Traits ◽  
Southern Russia ◽  
Selection Of

The results of a long-term study of the apple tree gene pool ( Malus x domestica Borkh.) in the conditions of southern Russia are presented. The purpose of the study is the formation of the identified collections, the selection of donors and sources of economically valuable traits with recommendations for their use in apple breeding. In the work we used the programs and methods of breeding and sorting, molecular genetic research methods. Valuable for breeding cultivars with immunity to scab ( Rvi6 gene) and high quality of fruits (genes Md-PG1 (AA); Md-Exp7 (198)) were identified: Modi, Stellar, CIVG 98, elite form 29-5-49.

Chemotherapy for brain tumours

2019 ◽  
pp. 149-162
Author(s):  
Nicholas F. Brown ◽  
Daniel Krell ◽  
Paul Mulholland
Keyword(s):  
Brain Tumours ◽  
Standard Of Care ◽  
Lower Grade ◽  
Treatment Regimens ◽  
Localized Delivery ◽  
Molecular Profiles ◽  
Established Role ◽  
Selection Of Patients ◽  
Chemotherapy For Brain Tumours ◽  
Selection Of

Chemotherapy can prolong survival of patients with brain tumours. Temozolomide with radiotherapy is the standard of care in glioblastoma following surgery. Elderly patients with MGMT-promotor methylated tumours benefit more from chemotherapy than radiotherapy. Localized delivery of chemotherapy-soaked wafers (Gliadel®) inserted at surgery has being investigated. At recurrence, modest survival advantage has been shown with chemotherapy. Chemotherapy has an established role in lower grade tumours. Stratification of tumours by their molecular profiles allows identification and selection of patients more likely to benefit from chemotherapy. Increased understanding of brain tumours and their microenvironment have led to the investigation of targeted therapies and immunotherapy, which are likely to form the basis of future treatment regimens.

scholarly journals Clinical features and differential diagnosis of type 2 diabetes mellitus in children

2009 ◽  
Vol 12 (3) ◽  
pp. 16-21
Author(s):  
Tamara Leonidovna Kuraeva ◽  
I A Dubinina
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Molecular Genetic ◽  
Genetic Studies

This review was designed to evaluate prevalence, specific clinical features, and differential diagnosis of type 2 diabetes mellitus (DM2) in childrenand adolescents. Special emphasis is laid on the importance of immunological and molecular-genetic studies for the verification of diagnosis and activecase detection in h groups.

Endogenous and Neurotic Syndromes of Depression: A Factor Analytic Study of 104 Cases. Clinical Features

1969 ◽  
Vol 115 (521) ◽  
pp. 377-388 ◽  
Author(s):  
D. W. K. Kay ◽  
R. F. Garside ◽  
P. Beamish ◽  
J. R. Roy
Keyword(s):  
Clinical Features ◽  
Clinical Data ◽  
Depressive Syndrome ◽  
Analytic Study ◽  
Unconscious Bias ◽  
Factor Analytic ◽  
Factor Analytic Study ◽  
Selection Of Patients ◽  
Depressive States ◽  
Selection Of

In recent years several factor analytic studies of the depressive states have referred to the problem of the so-called endogenous and neurotic varieties of depression. Some authors (Hamilton and White, 1959; Kiloh and Garside, 1963; Carney et ai, 1965) have found a bipolar factor corresponding to the supposed endogenous—neurotic dichotomy or to an anxious retarded dichotomy (Hamilton, 1967) while others have not (McConaghy et al., 1966). Rosenthal and Gudeman (1967a, b) found two orthogonal factors which they felt described an endogenous (or autonomous) depressive syndrome and a self-pitying syndrome. Differences in selection of patients or in interpretation of results, and unconscious bias in recording clinical data (Oswald, 1966) have been held to be responsible for these discrepancies.

Selection of patients for portal-systemic shunts

JAMA ◽  
1966 ◽  
Vol 196 (12) ◽  
pp. 1039-1044 ◽  
Author(s):  
R. E. Hermann
Keyword(s):  
Selection Of Patients ◽  
Selection Of
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