Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D

Rickets is softening of bones due to defective mineralization of cartilage in the epiphyseal growth plate, leading to widening of ends of long bones, growth retardation, and skeletal deformities in children. The predominant cause is deficiency or impaired metabolism of vitamin D. The observation that some forms of rickets could not be cured by regular doses of vitamin D, led to the discovery of rare inherited abnormalities of vitamin D metabolism or vitamin D receptor. Vitamin D dependent rickets (VDDR) is of two types: Type I is due to defective renal tubular 25-hydroxyvitamin D 1-α hydroxylase and type II is due to end-organ resistance to active metabolite of vitamin D. Typical signs are observed from the first month of life. The patient with rickets described below had markedly increased serum alkaline phosphatase and 1,25-dihydroxyvitamin D. We attribute these abnormalities to impaired end-organ responsiveness to 1,25-dihydroxyvitamin D

Reference intervals in evaluation of maternal thyroid function of Manipuri women

Context: The population of Manipur is of different ethnic background from the rest of the country. Several authors have suggested population/ethnic and laboratory specific reference range of maternal thyroid profile of different trimesters. Aims: To find the reference range of thyroid stimulating hormone (TSH), total thyroxine (TT4) and total tri-iodothyronine (TT3) levels for normal pregnant women of native Manipur descendants. Settings and Design: The cross-sectional study was conducted at a teaching Institute after ethical clearance was obtained. Subjects and Methods: A reference populations of 375 normal pregnant women were established after screening about 600 pregnant women. The study excluded patients with hyperemesis gravid arum, past history or family history of thyroid disorders as well as the connective tissue disorders, WHO grade 1 or 2 goiter, or any medications that alter thyroid functions. The serum levels of TSH, TT4, and TT3 were measured using chemiluminescence assay. Statistical Analysis Used: Data for TT3 and TT4 were expressed as mean ± standard deviation, median and 5–95th percentiles. Results: The mean TSH in the three trimesters was 1.06 + 0.45, 1.23 + 0.30, and 1.25 + 0.36, respectively. The normal reference range thus was different from that of the kit reference range. On comparing to the Indian normative reference for the pregnant women, our results were not similar. However, the values were near similar to that of the American Thyroid Association guidelines. Conclusions: We conclude our study results with a new reference range for the pregnant population in Manipur and also emphasis the use of trimester-specific reference range of thyroid hormone

Osteoporosis knowledge and beliefs among postmenopausal women: A cross-sectional study from a teaching hospital in southern India

Objectives: Osteoporosis continues to be underrecognized in many parts of India. This study was undertaken to assess the level of knowledge of osteoporosis among postmenopausal women referred for a dual-energy X-ray absorptiometry (DXA) scan in a teaching hospital in southern India. Methodology: This cross-sectional study assessed the state of awareness in consecutive postmenopausal women referred for a DXA scan using a validated questionnaire – Osteoporosis Knowledge Assessment Tool. The proportion of correct responses was expressed as percentages. The mean scores obtained were also compared between different educational groups. Results: A total of 302 consecutive postmenopausal women who were referred for DXA participated in this study. The mean (standard deviation) age of the postmenopausal women included in this study was 58.8 (6) years. Although most subjects were aware of the consequences of osteoporosis, there was generalized lack of awareness with regard to risk factors and available treatment options. Overall about 60% had poor awareness about osteoporosis. Conclusion: This study showed a gross deficit in awareness of osteoporosis in Indian postmenopausal women. There is a need to prioritize on designing appropriate awareness campaigns in subjects at risk, according to their level of literacy

Association of serum 25-Hydroxy vitamin D with total and regional adiposity and cardiometabolic traits.

BackgroundLower serum 25-hydroxyvitamin D [25(OH)D] is associated with greater adiposity and adverse cardiometabolic risk profile. The evidence is inconsistent among South Asian Indians. We aimed to examine associations between 25(OH)D and cardiovascular (CVD) risk markers in a rural and urban cohort from South India.Subjects/methodsIn this cross sectional study, 373 individuals (men, n = 205) underwent detailed CVD risk marker assessment including anthropometry [body mass index (BMI), waist, (WC) and hip circumferences (HC)], body composition analysis using dual energy x-ray absorptiometry (DXA), blood pressure and biochemical analysis (glucose, insulin and lipids). The distribution of CVD risk factors were compared across serum 25(OH)D levels, stratified as deficiency (ResultsThe mean and standard deviation (SD) of age, BMI and 25(OH)D levels were 41.4 (1.1) years, 25.5 (4.8) kg/m2 and 23.4 (10.4) ng/ml respectively. The prevalence of 25(OH)D deficiency was 39.9% in this cohort. Individuals in the 25(OH)D deficiency category had significantly higher mean (SD) BMI [26.6 (5.1) kg/m2], waist circumference [89.9 (12.5) cm] and total fat mass [20.6 (7.9) kg] compared with the Vitamin D sufficient group [BMI: 24.0 (4.4); WC 84.7 (12.0); total fat mass: 15.2 (6.8)]. Significantly inverse associations were observed with DXA measured total and regional fat depots with 25(OH)D levels, while anthropometric indices of adiposity showed significant inverse association only in women. After adjusting for total fat mass, no significant associations were observed between 25(OH)D and the cardiometabolic traits.ConclusionsOur results confirm that lower 25(OH)D is independently associated with both total and regional adiposity, but not with cardiometabolic traits, in this population

Prevalence, incidence and predictors of cardiovascular risk factors: longitudinal data from rural and urban South India and comparison with global data

Introduction India has high mortality rates from cardiovascular disease (CVD). Understanding the trends and identifying modifiable determinants of CVD risk factors will guide preventive strategies and policy making.Research design and methods CVD risk factors (obesity, central obesity, and type 2 diabetes (T2D), hypertension, hypercholesterolemia and hypertriglyceridemia) prevalence and incidence were estimated in 962 (male 519) non-migrant adults from Vellore, South India, studied in: (1) 1998–2002 (mean age 28.2 years) and (2) 2013–2014 (mean age 41.7 years). Prevalence was compared with the Non-Communicable Disease Risk Collaboration (global) data. Incidence was compared with another Indian cohort from New Delhi Birth Cohort (NDBC). Regression analysis was used to test baseline predictors of incident CVD risk factors.Results The prevalence at 28 and 42 years was 17% (95% CI 14% to 19%) and 51% (95% CI 48% to 55%) for overweight/obesity, 19% (95% CI 17% to 22%) and 59% (95% CI 56% to 62%) for central obesity, 3% (95% CI 2% to 4%) and 16% (95% CI 14% to 19%) for T2D, 2% (95% CI 1% to 3%) and 19% (95% CI 17% to 22%) for hypertension and 15% (95% CI 13% to 18%) and 30% (95% CI 27% to 33%) for hypertriglyceridemia. The prevalence of T2D at baseline and follow-up and hypertension at follow-up was comparable with or exceeded that in high-income countries despite lower obesity rates. The incidence of most risk factors was lower in Vellore than in the NDBC. Waist circumference strongly predicted incident T2D, hypertension and hypertriglyceridemia.Conclusions A high prevalence of CVD risk factors was evident at a young age among Indians compared with high and upper middle income countries, with rural rates catching up with urban estimates. Adiposity predicted higher incident CVD risk, but the prevalence of hypertension and T2D was higher given a relatively low obesity prevalence. Preventive efforts should target both rural and urban India and should start young

Distinct opposing associations of upper and lower body fat depots with metabolic and cardiovascular disease risk markers

Background: to examine the associations of total and regional adiposity with metabolic and cardiovascular disease (CVD) risk markers.Methods: this cross-sectional study included 1,080 (53.8% men, aged 39-44 years) individuals from South India. Anthropometry (height, weight, waist and hip circumference), body composition assessment using dual energy X-ray absorptiometry (DXA), blood pressure (BP), and plasma glucose, insulin and lipids were measured. Regression analysis was used to examine associations of standardized fat measurements with type 2 diabetes (T2D), insulin resistance (IR), hypertension and hypertriglyceridemia and continuous measurements of BP, glucose, insulin, HOMA-IR and lipids. Contour plots were constructed to visualize the differential effect of upper and lower fat depots. Results: DXA-measured fat depots were positively associated with metabolic and CVD risk markers. After adjusting for fat mass index, upper body fat remained positively, while lower body fat was negatively associated with risk markers. A one standard deviation (SD) increase in android fat showed higher odds ratios (ORs) for T2D (6.59; 95%CI 3.17, 13.70), IR (4.68; 95%CI 2.31, 9.50), hypertension (2.57; 95%CI 1.56, 4.25) and hypertriglyceridemia (6.39; 95%CI 3.46, 11.90) in men. A 1SD increase in leg fat showed a protective effect with ORs for T2D (0.42; 95%CI 0.24, 0.74), IR (0.31; 95%CI 0.17, 0.57) and hypertriglyceridemia (0.61; 95%CI 0.38, 0.98). The magnitude of effect was greater with DXA-measured fat compared with anthropometry. Conclusion: at any level of total body fat, upper and lower body fat depots demonstrate opposite risk associations with metabolic and CVD risk markers in Asian Indians.<br/

Comprehensive evaluation of patterns of hypoglycemia unawareness (HUA) and glycemic variability (GV) in patients with fibrocalculous pancreatic diabetes (FCPD): A cross-sectional study from South India.

ObjectivesHypoglycemia unawareness (HUA) in patients with FCPD is common with an unclear etiology. We evaluated the prevalence, characteristics of HUA, glycemic variability (GV), its possible association with pancreatic glucagon secretion & cardiac autonomic function in patients with FCPD.MethodsA two-week ambulatory glucose profile (AGP) and cardiac autonomic function test was done in patients with FCPD (n = 60), and categorized into UNAWARE (n = 44) and AWARE (n = 16) groups based on the Hypoglycemia Unawareness Index (HUI) score. Glycaemic variability was assessed from the AGP data using Easy GV 9.0.2 software. A subset of patients from both the groups (n = 11) underwent a mixed-meal challenge test and were compared with healthy individuals (controls; n = 11).ResultsHUA was evidenced in 73% (44/60) of patients with FCPD. Significant hypoglycemia, nocturnal hypoglycemia, duration of hypoglycemia and poor cardiac autonomic functions (p = 0.01) were prominent in the UNAWARE group. The overall GV was greater in the UNAWARE group. In the UNAWARE group, significantly reduced fasting and post prandial glucagon levels negatively correlated with HUI (r = -0.74, p ConclusionHeterogeneity in patterns of glucagon secretion were significantly associated with HUA and GV. Reduced glucagon levels contribute to greater risks of HUA, nocturnal hypoglycemia and greater GV, while hyperglucagonemia predisposes to postprandial hyperglycemia and hypoglycemia awareness in patients with FCPD