Publications by authors named "H Asha"
Pituitary adenoma is the most common disease that affects the gland and may be classified as functional/nonsecretory tumors. Inflammatory/infective causes may also affect the pituitary gland. The 18F-fluorodeoxyglucose positron emission tomography/computed tomography (F18-FDG PET/CT) may have an incremental value in assessing these lesions and in determining their clinical significance.
View Article and Find Full Text PDFIn this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR) and the variants identified were confirmed through Sanger sequencing. The clinical and biochemical parameters were compared among the mutation positive and negative subjects.
View Article and Find Full Text PDFObjective: Thyrotoxic periodic paralysis is a rare manifestation of thyrotoxicosis. Here, we describe the clinical and biochemical features and treatment outcomes of this disorder.
Methods: This retrospective study was conducted at a tertiary care centre in southern India.
Objectives: Whole exome sequencing (WES) has emerged as the preferred method for diagnosing a range of Mendelian disorders. Nonetheless, the applicability of WES in genetic diagnosis of 21-hydroxylase deficiency (21-OHD) remains uncertain due to the intricacies involved in molecular analysis of the CYP21A2 gene.
Methods: In this case series, authors report the outcomes of couples or families who underwent WES followed by focused sequential strategy (FSS) targeting CYP21A2 gene hotspot mutations and targeted sequencing of genes associated with Congenital Adrenal Hyperplasia (CAH).
Article Synopsis
- Thyroid storm is a rare but serious condition resulting from excessive thyroid hormones, with a mortality rate of 10%, and the study focused on understanding its characteristics among inpatients in India from 2004 to 2020.
- Out of 35 patients studied, a majority were women, the most common cause was Graves' disease, and many presented with cardiovascular and gastrointestinal issues, while only about 42% showed central nervous system symptoms.
- Nearly half of the patients had no prior diagnosis of thyroid issues, and the study suggested that the Japanese Thyroid Association's diagnostic criteria might differ from the Burch-Wartofsky score due to the lack of CNS symptoms in Indian patients.