Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.

Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes. Of these subjects 18% (9/50) were positive for definite or likely pathogenic or uncertain MODY variants. The majority of these variants was identified in subjects with autosomal dominant family history, of whom five were in women with pre-GDM and four with overt-GDM. The identified variants included one patient with HNF1A Ser3Cys, two PDX1 Glu224Lys, His94Gln, two NEUROD1 Glu59Gln, Phe318Ser, one INS Gly44Arg, one GCK, one ABCC8 Arg620Cys and one BLK Val418Met variants. In addition, three of the seven offspring screened were positive for the identified variant. These identified variants were further confirmed by Sanger sequencing. In conclusion, these findings in pregnant women with diabetes, imply that a proportion of GDM patients with autosomal dominant family history may have MODY. Further NGS based comprehensive studies with larger samples are required to confirm these finding.

Derangements in bone mineral parameters and bone mineral density in south Indian subjects on antiepileptic medications.

BACKGROUND: Although there are reports describing the association of alternations of bone and mineral metabolism in epileptic patients with long-term anticonvulsant therapy, there are only limited Indian studies which have looked at this aspect. OBJECTIVES: This study was done to compare the prevalence of changes in bone mineral parameters and bone mineral density (BMD) in ambulant individuals on long-term anticonvulsant therapy with age- and body mass index (BMI)-matched healthy controls. MATERIALS AND METHODS: There were 55 men (on medications for more than 6 months) and age- and BMI-matched 53 controls. Drug history, dietary calcium intake (DCI), and duration of sunlight exposure were recorded. Bone mineral parameters and BMD were measured. RESULTS: The control group had a significantly higher daily DCI with mean ± SD of 396 ± 91 mg versus 326 ± 101 mg (P = 0.007) and more sunlight exposure of 234 ± 81 vs 167 ± 69 min (P = 0.05). BMD at the femoral neck was significantly lower in cases (0.783 ± 0.105 g/cm(2)) when compared to controls (0.819 ± 0.114 g/cm(2)). Majority of the patients (61%) had low femoral neck BMD (P = 0.04). There was no significant difference in the proportion of subjects with vitamin D deficiency (<20 ng/mL) between cases (n = 32) and controls (n = 37) (P = 0.234). CONCLUSIONS: Vitamin D deficiency was seen in both the groups in equal proportions, highlighting the existence of a high prevalence of this problem in India. Low femoral neck BMD found in cases may stress the need for supplementing calcium and treating vitamin D deficiency in this specific group. However, the benefit of such intervention has to be studied in a larger proportion of epileptic patients.

Rate and Risk of All Cause Mortality among People with Known Hypertension in a Rural Community of Southern Kerala, India: The Results from the Prolife Cohort.

BACKGROUND: Hypertension is one of the most important determinants of death due to vascular damage and is fast emerging as a high burden disease in India. However, its documentation is poor in the country. This study aims to estimate the rate and the causal pattern of mortality in a cohort of people with high blood pressure as compared to normotensives. METHODS: The study setting is Varkkala, a rural village in southern Kerala, India, and the study design was that of a prospective cohort. A total of 77,881 participants of age 20 years and above were considered for analysis. The rate and risk of all cause mortality (death due to any cause) among hypertensives were quantified and compared against the normotensives. The causes of death were also analyzedin both the groups. Cox proportional hazard models were created to estimate the hazard ratios of death among hypertensives adjusted for sociodemographic factors, behaviors, and comorbidities. RESULTS: The incidence proportion of deaths in the study was 4.28% during the follow-up period of 6 years. The relative risk of mortality was 3.13 (CI: 2.91-3.37) in the high BP group. The age-adjusted hazard ratio of all cause mortality for the high BP group was 2.96 (2.56-3.42). Coronary artery disease was the major cause of death among the subjects with high BP. CONCLUSIONS: The study revealed high prevalence of hypertension in the study population. A person with hypertension is at three times higher risk of death due to any cause compared to a normotensive individual even after adjustment for age.

Catecholamine induced cardiomyopathy in pheochromocytoma.

Catecholamine induced cardiomyopathy in the setting of pheochromocytoma is an unusual clinical entity. Earlier studies have reported left ventricular dysfunction in around 10% of subjects with pheochromocytoma.[1] Catecholamine induced vasoconstriction, direct toxic effect of byproducts of catecholamine degradation and direct receptor-mediated mechanisms are thought to contribute to cardiomyopathy in subjects with pheochromocytoma. The presentation remains a diagnostic challenge as patients may already have hypertensive heart disease and acute coronary syndrome on account of uncontrolled secondary hypertension. We report a case of a 42-year-old male, who presented with features of pheochromocytoma induced cardiomyopathy.

Emesis in diabetes mellitus.

It is estimated that 20-40% of patients with diabetes, particularly those with prolonged duration of type 1 diabetes mellitus with other complications develop gastroparesis .We present in a picture quiz format the interesting case of an elderly lady presenting with diabetic gastroparesis in a tertiary care hospital in India.