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Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene
Type A Insulin resistance syndrome (TAIRS) is an autosomal dominant or recessive genetic disorder caused by insulin dysfunction resulting from insulin receptor (INSR) gene mutation. The main features of TAIRS include hyperinsulinemia, abnormal glucose metabolism, and changes in acanthosis nigricans. We identified, in China, a TAIRS family with a novel heterozygous missense gene mutation type. One patient from the Chinese Han family exhibited signs and symptoms of TAIRS and was presented for evaluation. Whole-exome sequencing revealed a heterozygous mutation. Both the patient proband and his father were identified with insu...
Source: Frontiers in Endocrinology - May 12, 2022 Category: Endocrinology Source Type: research

Estimation of metabolic syndrome in acanthosis nigricans - A hospital based cross-sectional study
Conclusions: Metabolic syndrome was seen in 78.3% of acanthosis nigricans. Axillary severity grading was associated with metabolic syndrome. (Source: Indian Journal of Dermatology)
Source: Indian Journal of Dermatology - April 19, 2022 Category: Dermatology Authors: Nicely E Philip Banavasi S Girisha Shricharith Shetty Ashna M Pinto Tonita M Noronha Source Type: research

Severe Quantitative Scale of Acanthosis Nigricans in Neck is Associated with Abdominal Obesity, HOMA-IR, and Hyperlipidemia in Obese Children from Mexico City: A Cross-Sectional Study
CONCLUSION: Our findings could be used to identify an easier clinical tool to prevent obesity progression and its complications in pediatrics. There are no similar studies.PMID:35386232 | PMC:PMC8979734 | DOI:10.1155/2022/2906189 (Source: Dermatology Research and Practice)
Source: Dermatology Research and Practice - April 7, 2022 Category: Dermatology Authors: Ana I Burguete-Garc ía Alan Gilberto Ram írez Valverde Meztli Espinoza-Le ón Isaac S ánchez Vázquez Evelyn Yazm ín Estrada Ramírez Itzel Maldonado-L ópez Alfredo Lagunas Mart ínez Cinthya Estefhany Diaz Ben ítez Roberto Karam Araujo Diana Fern à Source Type: research