Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus

2001 ◽  
Vol 109 (05) ◽  
pp. 283-287 ◽  
Author(s):  
T. Klemm ◽  
S. Neumann ◽  
B. Trülzsch ◽  
F. Pistrosch ◽  
M. Hanefeld ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Family History ◽  
Positive Family History ◽  
Maternal Diabetes ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
History Of ◽  
Maternal Diabetes Mellitus

scholarly journals Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G

2017 ◽  
Vol 30 (7-8) ◽  
pp. 581 ◽  
Author(s):  
Daniela Alves ◽  
Maria Eufémia Calmeiro ◽  
Carmo Macário ◽  
Rosa Silva
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Diagnostic Challenge ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
History Of ◽  
Monogenic Forms Of Diabetes ◽  
Inherited Diabetes ◽  
Relevant Family History

Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient’s mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be considered whenever there is a history of diabetes associated with hearing loss and a relevant family history. Cardiopathy is also known to be an important feature of mitochondrial disease. In order to identify this aetiology, family screening, genetic counselling and screening of associated comorbidities are encouraged.

scholarly journals Prevalence and Family History Characteristics of Type 1 Diabetes Mellitus in Children and Adolescents: A Nigerian Tertiary-Healthcare Based Study

2020 ◽  
Vol 24 (1) ◽  
Author(s):  
Elizabeth Eberechi Oyenusi ◽  
Alphonsus Ndidi Onyiriuka ◽  
Yahaya Saidu Alkali
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Family History ◽  
Children And Adolescents ◽  
Positive Family History ◽  
Risk Category ◽  
Family History Of Diabetes ◽  
Tertiary Healthcare ◽  
History Of

Background: Family history of diabetes mellitus is a useful tool for detecting children and adolescents at risk of the disease. The aim of this study is to determine the prevalence and describe the characteristics of family history of diabetes mellitus in Nigerian children and adolescents with type 1 diabetes. Methods: A retrospective chart review of children and adolescents newly diagnosed with type 1 diabetes was conducted in three tertiary-healthcare institutions in Nigeria. In addition to the review of charts of old patients, other children and adolescents who presented with new-onset diabetes during  the review process were also included. An interviewer-administered questionnaire was used in obtaining information from the patients and their parents. Using the criteria suggested by Scheuner et al, the family history risk category was stratified into average, moderate and high. Results: Out of a total of 65 children and adolescents with type 1 diabetes, 29(44.6%, 95% CI= 32.6-56.7) had a positive family history of diabetes mellitus. Of the affected family members, 42.9% were first-degree relatives. The frequencies of family history risk category were average 65.5%, moderate 27.6% and high 6.9%. Among the affected family members in whom information on their diabetes status was available, 19(86.4%) had type 2 diabetes and only 3(13.6%) had type 1 diabetes. Conclusion: Four out of every ten patients with type 1 diabetes in the paediatric age group, have a first- degree relative with a positive family history of diabetes.

scholarly journals Study on the impact of family history of diabetes among type 2 diabetes mellitus patients in an urban area of Kancheepuram district, Tamil Nadu

2017 ◽  
Vol 4 (11) ◽  
pp. 4151 ◽  
Author(s):  
Geetha A. ◽  
Gopalakrishnan S. ◽  
Umadevi R.
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Family History ◽  
Age Of Onset ◽  
Positive Family History ◽  
Study Group ◽  
Family History Of Diabetes ◽  
History Of ◽  
Study Participants

Background: Type 2 diabetes mellitus (T2DM) is a commonly occurring chronic non communicable disease. Family history of diabetes is one of the important non modifiable risk factor for occurrence of the disease. This study was done to assess the percentage of positive family history of diabetes among T2DM patients and its association with age of onset and complications of diabetes. Methods: This is a descriptive cross sectional study done in an urban health training centre of a medical college. Using purposive sampling technique, 215 diabetic patients were selected as study participants. Data collection was done by structured questionnaire. Data analysis was done using SPSS 17. Results: Among the study participants, 62.3% were females. The mean age of the participants was 56.08±10.04. Nearly 68.8% of T2DM patients had family history of Diabetes, among them 25.1% of them had diabetic mother and 15.3% had diabetic father. Among the study group of T2DM patients, 51.6% had diabetic complications. The family history of diabetes with age of onset and complications had statistically significant association among the study group. Conclusions: This study shows that persons with positive family history of diabetes are more prone to early onset of diabetes and developing complications. So appropriate behavioural changes and modification must be practiced to delay or prevent the occurrence of the disease. Early diagnosis and treatment is a must to prevent the complications in the vulnerable people. 

Cleft Lip

2019 ◽  
pp. 79-84
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Family History ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Positive Family History ◽  
Maternal Diabetes ◽  
Recurrence Risk ◽  
Background Information ◽  
Incidence Risk ◽  
History Of ◽  
Associated Malformations

This chapter reviews background information about the incidence, risk factors, family history, genetics, recurrence risk, and epidemiology of isolated and syndromic cleft lip with or without cleft palate. Microforms of cleft lip are described. The distinctive anatomy of bilateral cleft lip is contrasted with premaxillary agenesis, a wider defect caused by absence of the frontonasal process. The discussion on the differential diagnosis of cleft lip summarizes its common causes, including teratogenic agents (alcohol, maternal diabetes, phenytoin), chromosome anomalies (aneuploidy, recurrent deletion syndromes), and Mendelian clefting disorders that include associated malformations in other organ systems. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with an oral cleft who has a positive family history of cleft lip and palate with paramedian lip pits due to Van der Woude syndrome.

Prevalence and Risk Factors for Diabetes Mellitus in A State in South East Nigeria: Results of a Population Based House to House Survey

2020 ◽  
Vol 16 (2) ◽  
pp. 181-187
Author(s):  
Ignatius U. Ezeani ◽  
Innocent I. Chukwuonye ◽  
Ugochukwu U. Onyeonoro ◽  
Abali Chuku ◽  
Okechukwu S. Ogah
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Family History ◽  
Positive Family History ◽  
Population Based ◽  
World Health ◽  
Chi Square ◽  
Cross Sectional ◽  
History Of ◽  
Health Organization

Background: Population based studies on diabetes mellitus (DM) are scarce in Nigeria. Introduction: This was a population-based house to house survey aimed at determining the prevalence of DM and assessing the risk factors associated with DM in a state in Southeast Nigeria. Methods: This was a cross-sectional observational study in which 1680 adults were recruited using a multistage sampling method to randomly select not more than two suitable participants of both sex in each household from four enumeration areas (EAs) in each local government area (LGA) and the three senatorial zones in the state. A modified World Health Organization (WHO) Stepwise Approach to Surveillance questionnaire was used for data collection and random blood glucose (RBG) was measured after anthropometric assessment. Test statistics used were chi-square, t-test, and logistic regression. Results: The overall prevalence of DM in this study was 3.3%. A positive family history of DM was significantly higher in patients with diabetes: 18.2% vs. 9.6% (p=0.036). The mean (SD) of weight, body mass index (BMI), hip circumference (HC) and waist circumference (WC) were significantly higher in patients with DM(p=0.001,<0.001,<0.001,<0.001, respectively).The odd ratio (95% CI) of a person>35years developing DM was 3.89(1.11-13.60). The OR (95% CI) for waist-hip ratio (WHR) was 3.04 (1.02-9.03) and family history of DM had an OR of 2.62(0.88-6.50). The odd of developing DM is positively associated with age>35years, increased WHR, WC, family history of DM, BMI>25Kg/m2, and HC. The odd of developing DM was negatively associated with smoking. Conclusion: The prevalence of DM in this study was 3.3%. A BMI>25 kg/m2, WHR >0.85, family history of DM, HC, and older age were associated with significantly higher prevalence.

Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus

1999 ◽  
Vol 36 (3) ◽  
pp. 163-167 ◽  
Author(s):  
L. Rigoli ◽  
D.C. Salpietro ◽  
R.A. Caruso ◽  
A. Chiarenza ◽  
I. Barberi
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Inherited Diabetes
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