Parietal Cell Antibodies in Type 1 Diabetes Mellitus and Its Implications for Iron Deficiency: A Tertiary Centre Experience from North India.

Introduction: Parietal cell antibody (PCA)-mediated auto-immune gastritis is known to increase the risk of iron-deficiency and pernicious anaemia in adults with type 1 diabetes mellitus. However, in children and young adults with type 1 diabetes, these data are scarce. We aimed to study the prevalence of parietal cell antibodies (PCAs) and its clinical associations in people with type 1 diabetes with onset below 30 years.

Characterisation of islet antibody-negative type 1 diabetes mellitus in Indian children.

Aims: Islet antibody-negative type 1 diabetes mellitus (T1DM) has not been well characterised. We determined the frequency of antibody-negative T1DM and compared it with antibody-positive T1DM in a cohort of north Indian children.

Methods: In a multi-centre, prospective, observational study, 176 Indian children (age 1-18 years) were assessed within 2 weeks of diagnosis of T1DM.

High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.

Background: While the frequency of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) is reported to be increased in Indian children, its aetiology has not been studied. We investigated the role of monogenic diabetes in the causation of islet antibody-negative T1DM.

Methods: We conducted a multicenter, prospective, observational study of 169 Indian children (age 1-18 years) with recent-onset T1DM.

Nonsurgical hypoparathyroidism is associated with skeletal muscle dysfunction and restrictive lung disease.

Context: Systematic assessment of skeletal muscle function is lacking in patients with nonsurgical hypoparathyroidism (HP). Whether muscle dysfunction involves respiratory muscles and results in restrictive lung disease (RLD) is not studied.

Objective: To assess skeletal muscle and pulmonary functions in patients with HP.

Etiology, clinical characteristics and mortality among Indian patients with Addison's disease.

The etiology, presentation and mortality of patients with primary adrenal insufficiency (PAI) in developing countries may differ from economically developed nations. However, information in this regard is scanty. The aim of this study was to determine the etiology and compare the clinical characteristics and mortality in infectious and autoimmune causes of PAI in Indian patients.

Association of hyperglycaemia at-admission & diabetes mellitus with 28 day mortality in patients admitted with moderate-severe SARS-CoV-2 infection: A retrospective study.

Background & Objectives: The association between hyperglycaemia at admission, diabetes mellitus (DM) status and mortality in hospitalized SARS-CoV-2 infected patients is not clear. The purpose of this study was to determine the relationship between DM, at-admission hyperglycaemia and 28 day mortality in patients admitted with moderate-severe SARS-CoV-2 infection requiring intensive care.

Methods: All consecutive moderate-to-severe patients with SARS-CoV-2 infection admitted to the intensive care units (ICUs) over six months were enrolled in this single-centre, retrospective study.

Low Diagnostic Utility of Overnight High-Dose Dexamethasone Suppression Test in ACTH-Dependent Cushing's Syndrome.

Objective: Overnight high-dose dexamethasone suppression test (ON-HDDST) is a simple test to localize the source of ACTH in patients with ACTH-dependent Cushing's syndrome (CS). However, previous studies have reported its varying accuracy. We studied the utility of ON-HDDST in diagnosing Cushing's disease (CD) in a series of patients with CD and ectopic ACTH syndrome (EAS).

Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.

Background: Aggressiveness of hereditary medullary thyroid carcinoma (hMTC) has been conventionally described to correlate with American Thyroid Association (ATA) risk groups based on RET mutations. Recent evidence increasingly contradicts this notion. We studied the RET genotype and its correlation with disease phenotype and survival outcomes in a cohort of hMTC patients.

Neonatal Diabetes Mellitus: Novel Mutations.

Objective: To describe the spectrum of neonatal diabetes mellitus (NDM), document new mutations, and review published Indian literature on the etiology of NDM.

Methods: Retrospective analysis of the clinical and genetic profile of 12 NDM patients.

Results: Eight patients presented with NDM before the age of 6 mo.

High prevalence of idiopathic (islet antibody-negative) type 1 diabetes among Indian children and adolescents.

Objectives: To study the prevalence and clinical characteristics of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) among Indian children and adolescents at the time of diagnosis of illness.

Methods: In a hospital-based cross-sectional study, we studied 110 patients with T1DM aged ≤18 years. This included 61 patients with duration of diabetes ≤2 weeks (mean ± SD age of onset 9.

Coronary artery calcification, carotid intima-media thickness and cardiac dysfunction in young adults with type 2 diabetes mellitus.

Aims: Cardiovascular diseases (CVD) are the major causes of mortality in patients with type 2 diabetes mellitus (T2DM). There is paucity of information on prevalence of subclinical atherosclerosis and cardiac dysfunction in young adults with T2DM. This study aimed to assess the prevalence of subclinical atherosclerosis and cardiac dysfunction in young adults with T2DM, asymptomatic for CVD.

Results of Percutaneous Computed Tomography-Guided Biopsy of Adrenal Lesions and Spectrum of Computed Tomography Findings.

Objective: Adrenal enlargement occurs in various conditions such as infections, benign, and malignant neoplasms. Percutaneous computed tomography (CT)-guided adrenal biopsy is a safe method for obtaining tissue specimen in cases where diagnosis cannot be established on imaging and biochemical grounds. The study aims to evaluate diagnostic yield, accuracy, and complications of percutaneous CT-guided adrenal biopsies.

Genetic Profile of Indian Pheochromocytoma and Paraganglioma Patients - A Single Institutional Study.

Background And Aims: Pheochromocytomas (PCCs) and Paragangliomas (PGL) are rare catecholamine producing tumors that may present in sporadic or familial settings. Despite vast strides in understanding of PCC/PGL genetics in the last two decades, there is a dearth of information from India. The aim here is to study the prevalence of genetic mutations in Indian PCC/PGL patients.

Elevated FGF23 in a patient with hypophosphatemic osteomalacia associated with neurofibromatosis type 1.

Context: The mechanism behind hypophosphatemia in the setting of neurofibromatosis type 1 (NF1) is not known. We describe a possible role of fibroblast growth factor-23 (FGF23) in the pathophysiology of hypophosphatemia in a patient with NF1.

Case Description: A 34-year woman with NF1 presented with severe hypophosphatemia, osteomalacia, and elevated plasma FGF23.

Heterogeneity in the aetiology of diabetes mellitus in young adults: A prospective study from north India.

Background & Objectives: In contrast to Caucasians of European origin, the aetiology of diabetes mellitus (DM) in young adults in other ethnic groups, including Indians is likely to be heterogeneous and difficult to determine. This study was undertaken to determine the aetiology of diabetes in young Indian adults using a protocol-based set of simple clinical and investigation tools.

Methods: In this prospective study, 105 Indian young adults with diabetes (age at onset 18-35 yr; duration <2 yr) were studied for a period of 1-3 years.

Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.

Background X-linked adrenal hypoplasia congenita (AHC), due to mutations in the nuclear receptor superfamily 0, group B, member 1 (NR0B1)/dosage-sensitive sex reversal, AHC, critical region on the X chromosome, gene 1 (DAX1) gene, usually presents with a salt-wasting adrenal crisis in infancy and hypogonadotropic hypogonadism (HH) in adolescents. Genetic reports in the literature from patients of diverse ethnicity are limited. We describe the atypical clinical characteristics and molecular genetic results in six Indian patients.

Glycemic Control and Long-term Complications in Pediatric Onset Type 1 Diabetes Mellitus: A Single-center Experience from Northern India.

Objective: To study glycemic control, mortality and long-term complications in children with type 1 diabetes (T1D).

Design: Cross-sectional study.

Setting: Referral centre at a government teaching hospital.

The impact of free medical supplies and regular telephonic contact on glycemic control in Indian children and adolescents with type 1 diabetes.

Background/objective: The effect of economic assistance to underprivileged families with type 1 diabetes has never been described. Such a study is relevant as logistic and cultural factors may preclude an anticipated good outcome. The objective of the study is to determine the impact of economic and educational intervention on hemoglobin A1c (HbA1c) and diabetes knowledge.

Clinical outcomes and cortical reserve in adrenal histoplasmosis-A retrospective follow-up study of 40 patients.

Objective: Detailed studies of Addison's disease resulting from disseminated adrenal histoplasmosis (AH) are not available. We describe the presentation and prognosis of AH and cortisol status before and after antifungal therapy.

Design: Single-centre retrospective hospital-based study of 40 consecutive adults with AH [39 males; age (mean ± SD) 53 ± 11 years] was conducted between 2006 and 2018.

Validation of a diabetes knowledge test for Indian children, adolescents and young adults with type 1 diabetes mellitus.

Introduction: Diabetes knowledge has a large impact on glycemic control. There is a pressing need for creation of validated tests of knowledge for different ethnic groups.

Objective: To create and validate a diabetes knowledge test (DKT) for young Indians with type 1 diabetes mellitus (T1DM).

Concurrent extrahepatic autoimmune disorders: unexplored dimension of autoimmune liver disease in children.

Background And Aim: No comprehensive and prospective data are available for concurrent extrahepatic autoimmune disorders (CEAIDs) in children with autoimmune liver disease (AILD). The aim of this study was to evaluate CEAIDs in AILD and their effect on AILD outcome.

Patients And Methods: Enrolled AILD and CEAIDs children were diagnosed on the basis of simplified and standard diagnostic criteria, respectively.