Monogenic diabetes is thought to account for 2% of all diabetes cases, but most patients receive misdiagnoses of type 1 or type 2 diabetes. To date, little is known about the histopathological ...features of pancreata from patients with monogenic diabetes.
Retrospective study of the JDRF Network for Pancreatic Organ Donors with Diabetes biorepository to identify possible cases of monogenic diabetes and to compare effects of genetic variants on pancreas histology.
We selected cases of diabetes for genetic testing on the basis of criteria that included young age at diagnosis, low body mass index, negative autoantibody status, and/or detectable C-peptide level. Samples underwent next-generation-targeted sequencing of 140 diabetes/diabetes-related genes. Pancreas weight and histopathology were reviewed.
Forty-one of 140 cases of diabetes met the clinical inclusion criteria, with 38 DNA samples available. Genetic variants of probable clinical significance were found in four cases: one each in KCNJ11, HNF1A, GATA6, and LMNA. The KCNJ11 and HNF1A samples had significantly decreased pancreas weight and insulin mass similar to that of type 1 diabetes but had no insulitis. The GATA6 sample had severe pancreatic atrophy but with abundant β cells and severe amyloidosis similar to type 2 diabetes. The LMNA sample had preserved pancreas weight and insulin mass but abnormal islet architecture and exocrine fatty infiltrates.
Four cases of diabetes had putative causal variants in monogenic diabetes genes. This study provides further insight into the heterogeneous nature of monogenic diabetes cases that exhibited clinical and pathophysiological features that overlap with type 1/type 2 diabetes.
•Yoga participants reported reduced pain and stress short-term but not long-term.•Primary motivators for attending included stress relief, exercise, overall health.•Primary barriers included family ...issues, schedule, illness, and work conflicts.•Qualitative results reveal relaxation, physical, emotional, and community benefits.•Community health centers offer a viable setting for yoga programs.
We evaluated the acceptability, access, and impact of yoga among participants in yoga classes co-located in community health centers.
Participants were invited to complete a mixed-methods program evaluation consisting of a pre/post survey at their first class and structured interviews at 4 months.
The study took place at two community health centers on the South Side of Chicago, IL, USA.
Four weekly 1–1.5 hour yoga classes were provided by four certified yoga instructors trained to teach to all ability levels.
Our primary outcome measures were pain and stress before and after the first class, and at 4-months. We gathered data about participant demographics, their health problems, how they accessed the classes, and motivations and barriers to attending. We also extracted themes from participants’ qualitative feedback about their experiences.
Overall, 70 participants completed the initial surveys; 44 completed the 4-month interviews. A racially and ethnically diverse group of middle- and low-income adult patients and community members attended, with flyers and word of mouth the major routes to the class. A single yoga class provided statistically significant decreases in pain and stress, but these benefits were not demonstrated at the 4-month follow-up. The primary motivators for yoga class attendance were stress relief, exercise, and overall health improvement. Primary barriers included family issues, schedule, illness, and work conflicts. Primary benefits included physical benefits, relaxation, emotional benefits, and community connectedness.
Co-locating yoga classes in community health centers provides a variety of benefits and is a viable pathway to addressing disparities in yoga access.
We evaluated a methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA) assay for the molecular diagnosis of transient neonatal diabetes mellitus (TNDM) caused by 6q24 ...abnormalities and assessed the clinical utility of using this assay in combination with next generation sequencing (NGS) analysis for diagnosing patients with neonatal diabetes (NDM).
We performed MS-MLPA in 18 control samples and 42 retrospective NDM cases with normal bi-parental inheritance of chromosome 6. Next, we evaluated 22 prospective patients by combining NGS analysis of 11 NDM genes and the MS-MLPA assay.
6q24 aberrations were identified in all controls and in 19% of patients with normal bi-parental inheritance of chromosome 6. The MS-MLPA/NGS combined approach identified a genetic cause in ~64% of patients with NDM of unknown etiology.
MS-MLPA is a reliable method to identify all known 6q24 abnormalities and comprehensive testing of all causes reveals a causal mutation in ~64% of patients.
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