inherited diabetes
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2021 ◽  
Author(s):  
Metharani N ◽  
Srividya R ◽  
Rekha G ◽  
Ranjith Kumar V

Diabetes can be a collection of metabolic problems and lots of human beings are affected. Diabetes Mellitus can be caused by a variety of factors including age, stoopedness, lack of activity, inherited diabetes, lifestyle, poor eating habits, hypertension, and so on. Diabetics are more likely to develop diseases like coronary illness, kidney contamination, eye sickness, stroke and other risks. Distributed computing and Internet of Things (IoT) are two instruments that assume a vital part in the present life with respect to numerous angles and purposes including medical care observing of patients and old society. Diabetes Healthcare Monitoring Services are vital these days on the grounds that and that to distant medical care observing in light of the fact that truly going to clinics and remaining in a line is exceptionally ineffectual adaptation of patient checking. Current practice in emergency clinic is to gather required data for diabetes conclusion through different tests and proper treatment is given dependent on analysis. Utilizing enormous data investigation can consider large datasets and discover covered up data, uncertain examples to find information from the data and expect the outcome as demand. Diabetics are caused because of a tremendous uphill in the blood partition containing glucose. There is an advancement conspire accessible using train test split and K overlay cross approval utilizing Scikit learn technique. Various ML algorithms consisting of SVM, RF, KNN, NB, Decision Tree and Logistic Regression are also used.


2021 ◽  
Vol 12 ◽  
Author(s):  
Mengge Yang ◽  
Lusi Xu ◽  
Chunmei Xu ◽  
Yuying Cui ◽  
Shan Jiang ◽  
...  

AimsTo investigate the clinical features and mitochondrial mutations for maternally inherited diabetes and deafness.MethodsPubMed, Embase, Medline, Web of Science, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: “Maternally inherited diabetes and deafness” OR “MIDD” OR “Mitochondrial diabetes”. The mutations and clinical features were analyzed. Correlation between the heteroplasmy levels of the m.3243A>G mutation in the peripheral blood and age at the onset of diabetes was conducted by Spearman test. The significance level was set as p < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows.ResultsTotally 161 patients with 21 different mitochondrial mutations were enrolled. The most common mutation was the m.3243A>G mutation in 136 cases. Of 142 patients, 120 (84.51%) had family histories of diabetes or hearing loss. Hearing loss presented in 85.71% of the patients with mitochondrial mutations. Central nervous system diseases were found in 29.19%, myopathy in 22.98%, oculopathy in 23.60%, cardiac disease in 23.60%, and nephropathy in 13.66% of the patients. Forty-two of 101 (41.58%) patients were underweight. A significant negative correlation was found between the heteroplasmy levels of the m.3243A>G mutation in the peripheral blood and age at the onset of diabetes.ConclusionsThe young onset of diabetes with low or normal BMI, maternal inheritance, and presence of impairments of multiple systems should prompt a genetic testing in order to differentiate MIDD from other types of diabetes earlier.


2021 ◽  
Author(s):  
Cécile Saint-Martin ◽  
Delphine Bouvet ◽  
Mathilda Bastide ◽  
Christine Bellanné-Chantelot

Gene panel sequencing (NGS) offers the possibility to analyze rare forms of monogenic diabetes (MgD). To that end, 18 genes were analyzed in 1676 patients referred for MODY genetic testing. <p>Among the 307 patients with a molecular diagnosis of MgD, 55 (17.9%) were mutated in a gene associated with a genetic syndrome. Eight percent (n=25) of the patients with mutations carried the m.3243A>G variant associated with MIDD (Maternally inherited diabetes and deafness). At time of referral very little had reported hearing loss or any other element of the typical syndromic presentation. Six percent of the patients were mutated in <i>HNF1B</i> even though the typical extra-pancreatic features were not known at time of referral. Surprisingly the third most prominent etiology in these rare forms was the <i>WFS1</i> gene accounting for 2.9% of the patients with pathogenic mutations (n=9). None of them depicted a Wolfram syndrome presentation even though some features were reported in 6/9 patients. </p> <p>Restricting the analysis of certain genes to patients with the respective specific phenotypes would miss out those with partial presentations. These results therefore underlie the undisputable benefit of NGS strategies even though the situation implies cascade consequences both for the molecular biologist and the clinician.</p>


2021 ◽  
Author(s):  
Cécile Saint-Martin ◽  
Delphine Bouvet ◽  
Mathilda Bastide ◽  
Christine Bellanné-Chantelot

Gene panel sequencing (NGS) offers the possibility to analyze rare forms of monogenic diabetes (MgD). To that end, 18 genes were analyzed in 1676 patients referred for MODY genetic testing. <p>Among the 307 patients with a molecular diagnosis of MgD, 55 (17.9%) were mutated in a gene associated with a genetic syndrome. Eight percent (n=25) of the patients with mutations carried the m.3243A>G variant associated with MIDD (Maternally inherited diabetes and deafness). At time of referral very little had reported hearing loss or any other element of the typical syndromic presentation. Six percent of the patients were mutated in <i>HNF1B</i> even though the typical extra-pancreatic features were not known at time of referral. Surprisingly the third most prominent etiology in these rare forms was the <i>WFS1</i> gene accounting for 2.9% of the patients with pathogenic mutations (n=9). None of them depicted a Wolfram syndrome presentation even though some features were reported in 6/9 patients. </p> <p>Restricting the analysis of certain genes to patients with the respective specific phenotypes would miss out those with partial presentations. These results therefore underlie the undisputable benefit of NGS strategies even though the situation implies cascade consequences both for the molecular biologist and the clinician.</p>


2021 ◽  
Author(s):  
Nathaniel K Mullin ◽  
Kristin R Anfinson ◽  
Megan J Riker ◽  
Kelsey L Wieland ◽  
Nicole J Tatro ◽  
...  

Abstract The m.3243A&gt;G mutation in the mitochondrial genome commonly causes retinal degeneration in patients with maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Like other mitochondrial mutations, m.3243A&gt;G is inherited from the mother with a variable proportion of wild type and mutant mitochondrial genomes in different cells. The mechanism by which the m.3243A&gt;G variant in each tissue relates to the manifestation of disease phenotype is not fully understood. Using a digital PCR assay we found that the % m.3243G in skin derived dermal fibroblasts was positively correlated with that of blood from the same individual. The % m.3243G detected in fibroblast cultures remained constant over multiple passages and was negatively correlated with mtDNA copy number. Although the % m.3243G present in blood was not correlated with severity of vision loss, as quantified by Goldmann visual field, a significant negative correlation between % m.3243G and the age of onset of visual symptoms was detected. Together, these results indicate that precise measurement of % m.3243G in clinically accessible tissues such as skin and blood may yield information relevant to the management of retinal m.3243A&gt;G associated disease.


2021 ◽  
Vol 14 (8) ◽  
pp. e242579
Author(s):  
Kirk Underwood ◽  
Henry Drysdale ◽  
Giang Nguyen ◽  
Sonalmeet Nagra

Chronic intestinal pseudo-obstruction (CIPO) is a condition typified by the failure of the small bowel to propel contents in the absence of physical obstruction. CIPO is diagnosed after eliminating other causes, presenting a diagnostic challenge in emergency surgery. We report a case of a 32-year-old man with a rare mitochondrial disorder, Maternally inherited diabetes and deafness (MIDD), who presented to our hospital acutely unwell with peritonitis. Laparotomy revealed distended small bowel with no transition point, and turbid fluid with no macroscopic source. Postoperatively he had severe electrolyte and vitamin deficiencies. The diagnosis of CIPO leading to paralytic ileus and bacterial translocation was established and managed with aggressive electrolyte and vitamin replacement. He was discharged day 12 post operatively after a prolonged ileus with follow-up from a quaternary metabolic unit. We discuss here the challenges and gold standard in the emergency management of CIPO.


2021 ◽  
Vol 22 (13) ◽  
pp. 6733
Author(s):  
Siarhei A. Dabravolski ◽  
Varvara A. Orekhova ◽  
Mirza S. Baig ◽  
Evgeny E. Bezsonov ◽  
Antonina V. Starodubova ◽  
...  

Diabetes mellitus and related disorders significantly contribute to morbidity and mortality worldwide. Despite the advances in the current therapeutic methods, further development of anti-diabetic therapies is necessary. Mitochondrial dysfunction is known to be implicated in diabetes development. Moreover, specific types of mitochondrial diabetes have been discovered, such as MIDD (maternally inherited diabetes and deafness) and DAD (diabetes and Deafness). Hereditary mitochondrial disorders are caused by certain mutations in the mitochondrial DNA (mtDNA), which encodes for a substantial part of mitochondrial proteins and mitochondrial tRNA necessary for mitochondrial protein synthesis. Study of mtDNA mutations is challenging because the pathogenic phenotype associated with such mutations depends on the level of its heteroplasmy (proportion of mtDNA copies carrying the mutation) and can be tissue-specific. Nevertheless, modern sequencing methods have allowed describing and characterizing a number of mtDNA mutations associated with human disorders, and the list is constantly growing. In this review, we provide a list of mtDNA mutations associated with diabetes and related disorders and discuss the mechanisms of their involvement in the pathology development.


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