Double Complication Developed in a Patient Related to Local Anesthetics

YILMAZ, Nezir

doi:10.5336/caserep.2021-85435

Cited by 1 publication

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“…Because of its rarity, 90% of MODY patients are mistakenly diagnosed with Type 1 or Type 2 diabetes. 7 MODY should be considered in the differential diagnosis of patients with atypical Type 1 and Type 2 DM with negative autoantibodies. 5 Advances in high-resolution genome sequencing technologies allow sequencing not only of a specific region of the genome, but also of the entire genome, quickly and with high accuracy.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of variants in maturity onset of diabetes young related genes in Balıkesir region

GERİK ÇELEBİ,

DEMİRAL

2023

Anatolian Current Medical Journal

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Aims: Maturity-onset diabetes of the young (MODY) is an early-onset, monogenic diabetes with an autosomal dominant inheritance pattern. Single gene mutations that cause dysfunction in pancreatic beta cells are responsible for MODY etiology. In this study, we investigated the genetic variants involved in the etiopathogenesis of MODY in our region. Methods: Between May 2018 and April 2023, 40 pediatric patients (n=25 females, n=15 males) with a clinical diagnosis of MODY were evaluated by targeted genome sequencing. Results: Among the 40 pediatric patients included in this study, variants in MODY-associated genes were detected in 21 patients (52.5%), eight (38.09%), of which were pathogenic (38.09%), five (23.8%) were probable pathogenic, and eight (38.09%), were of uncertain significance. Conclusion: In this study, genetic diagnostic yield (including pathogenic and likely pathogenic variants) was detected in 32.5% (13/40) patients with MODY using targeted genome sequencing analysis. This rate is consistent with other studies. However, unlike other similar studies, the MODY12 subtype was the second most frequent in our study. In addition, nine novel variants were reported, including ABCC8 (n=3), CEL (n=2), KLF11 (n=1), GCK (n=1), HNF1A (n=1), and HNF1B (n=1) genes. We have presented clinical findings to improve genotype-phenotype correlation in the literature for novel variants.

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Section: Introductionmentioning

confidence: 99%