Background: Atherosclerotic cardiovascular disease (CVD) is a major cause for morbidity and mortality in the adult population. Altered lipid levels are the recognized factors. This process is considered to begin in early life and progress silently over decades. Maternal lipid concentrations may exert an in-utero influence on infant’s lipid profile. The objective of the study was to find out the correlation of maternal lipid profile with newborn’s lipid profile.Methods: This is a hospital based, cross sectional study. After applying inclusion and exclusion criteria, a total of 220 parturients and their respective newborns were enrolled. Out of 220 newborns, 110 were <2.5 kg (group A) and 110 were ≥2.5kg (group B) babies. 2.5 ml of Cord blood sample from each of enrolled newborns was collected from the placental end of the cord just after the delivery. Blood samples from the parturients were collected right after delivery. The concentrations of total cholesterol, triglycerides and HDL-c were determined by an enzymatic colorimetric method and LDL-c was calculated by the Friedewald formula.Results: In present study there was a statistically significant but poor negative correlation between maternal TG and babies’ TG level among low birth weight (˂2.5kg) babies and no other significant correlation was observed between maternal lipid profile and newborn’s lipid profile.Conclusions: Change in maternal lipid profile is not significantly associated with the mean concentrations of total cholesterol, LDL-c, HDL-c and triglycerides in newborns. Hence it shows that neonatal lipogenesis may be independent of maternal lipogenesis.
Introduction: Turner Syndrome (TS) is the most common sex chromosome abnormality of female, occurs in one in 2500 live born females. TS combines characteristic physical features with complete or partial absence of X chromosomes, frequently accompanied by cell mosaicism. Objective: The aim of the study is to describe the clinical phenotype, prevalence of congenital anomalies and autoimmune conditions in patients with turner syndrome. Method: Data was collected from patients presenting in endocrinology OPD at SMS Medical College Jaipur. Of 100 cases the mean age of diagnosis was 9.6 years (range 0-17) years. The most common problem that bring patients to the clinic was short stature (75%), and delayed puberty (25%). There were 24 patients with other congenital abnormalities cardiac defect in 6%, 12% with ear abnormality and remaining with skeletal and eye defect. Significant number 45% had associated autoimmune condition (including T1DM, coeliac disease, hypothyroidism). Conclusion: Most common presentation of turner syndrome is short stature. TS is associated with other congenital abnormalities most common being ear abnormalities and most common autoimmune condition being coeliac disease.
Background: Osteosclerosis is a condition characterized by high bone mineral density associated with disorders such as hypoparathyroidism, renal osteodystrophy, fluorosis and osteopetrosis. Hypoparathyroidism and fluorosis are two of the most common diseases causing sclerotic bone disease. Fluorosis also causes secondary hyperparathyroidism and has been implicated in renal dysfunction. Co-Occurrence of these disorders is both rare and confusing. Case Summary: 42-year-old male, previously diagnosed case of hypoparathyroidism presented with, fixed flexion deformity of the spine and limbs, episode of seizure, recurrent carpopedal spasms and low back ache. On examination there was positive Chvostek’s and trousseau signs, proximal muscle weakness and restriction of movement at both hip and spine, dental examination revealed mottling of without any discernable pitting. On investigation serum calcium was low (5.92 mg/dl), serum phosphorus was high (7.82 mg/dl). Serum PTH and vitamin D levels were 2.9 pg/ml and 26.8 ng/ml respectively. Xray was suggestive of osteopetrosis, DXA SCAN-Left neck femur: +3.8, Lumbar spine: +5.9. On further workup, patients drinking water fluoride content was measured and was found to be 12 ppm over 10 times the recommended WHO limit. The candle wax appearance especially in the tibia also posed melorheosteosis as a potential differential diagnosis but the fact that the patient hailed from the fluoride belt of Rajasthan and other features along with raised fluoride led us to the diagnosis of Hypoparathyroidism with fluorosis and the patient was managed on oral calcium and calcitriol. Conclusion: Hypoparathyroidism together with fluorosis is a rare entity and timely diagnosis can prevent morbidity and improve the quality of life.
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