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BackgroundVascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India.MethodsClinical characteristics, cardiovascular findings, outcomes and molecular genetics of twenty-two infants from a distinct population subgroup, presenting with characteristic arterial dilatation and tortuosity during the period August 2004 to June 2011 were studied.ResultsPatients (11 males, 11 females) presented at median age of 1.5 months, belonging to unrelated families from identical ethno-geographical background; eight had a history of consanguinity. Cardiovascular features included aneurysmal dilatation, elongation, tortuosity and narrowing of the aorta, pulmonary artery and their branches. The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%), micrognathia (43%), hypertelorism (57%), prominent eyes (43%), sagging cheeks (43%), long slender digits (48%), and visible arterial pulsations (38%). Genetic studies revealed an identical c.608A > C (p. Asp203Ala) mutation in exon 7 of the FBLN4 gene in all 22 patients, homozygous in 21, and compound heterozygous in one patient with a p. Arg227Cys mutation in the same conserved cbEGF sequence. Homozygosity was lethal (17/21 died, median age 4 months). Isthmic hypoplasia (n = 9) correlated with early death (≤4 months).ConclusionsA lethal, genetic disorder characterized by severe deformation of elastic arteries, was linked to novel mutations in the FBLN4 gene. While describing a hitherto unreported syndrome in this population subgroup, this study emphasizes the critical role of fibulin-4 in human elastogenesis.

Objective:Alteration in thyroid hormones are seen in critically ill patients admitted to intensive care units. Our objective was to study the thyroid hormone profile, prolactin and, glycosylated hemoglobin (HbA1c) at admission and analyze their correlation with mortality.Materials and Methods:In this single centre, prospective, observational study, 100 consecutive patients (52M; 48F) admitted to medical ICU irrespective of diagnosis were included. Patients with previous thyroid disorders and drugs affecting thyroid function were excluded. All participants underwent complete physical examination and a single fasting blood sample obtained at admission was analyzed for total triiodothyronine (T3), total thyroxine (T4), thyroid stimulating hormone (TSH), HbA1c, and prolactin. The patients were divided into two groups: Group 1 – survivors (discharged from the hospital) and Group 2 – nonsurvivors (patients succumbed to their illness inside the hospital). The data were analyzed by appropriate statistical methods and a P-value of <0.05 was considered significant.Results:The mean age of the participants was 58.7 ± 16.9 years and the mean duration of ICU stay was 3.3 ± 3.1 days. A total of 64 patients survived, whereas remaining 36 succumbed to their illness. The baseline demographic profile was comparable between survivors and nonsurvivors. Nonsurvivors had low T3 when compared with survivors (49.1 ± 32.7 vs. 66.2 ± 30.1, P = 0.0044). There was no significant difference observed between survivors and nonsurvivors with respect to T4, TSH, HbA1c, and prolactin.Conclusion:Our study showed that low T3 is an important marker of mortality in critically ill patients. Admission HbA1c, prolactin, T4, and TSH did not vary between survivors and nonsurvivors.

Background:Polycystic ovarian syndrome (PCOS) and hypovitaminosis D are the two most common endocrine disorders in young women leading to many adverse metabolic consequences. We evaluated the correlation of 25-hydroxy Vitamin D (25OHD) with metabolic parameters and insulin resistance in PCOS.Materials and Methods:We included 100 PCOS patients (age 18–40 years, duration >6 months) serially, in this cross-sectional study. We excluded patients with past use of insulin sensitizers and hormone therapy. All patients underwent a physical examination, body fat estimation, and a single fasting blood sample was analyzed for the biochemical parameters. The patients were divided into 2 groups as per the 25OHD level: Group 1 (Deficient, <30 ng/mL) and Group 2 (normal). The data were analyzed using appropriate statistical methods, and a P < 0.05 was considered statistically significant.Results:The study population had a mean age of 28.6 ± 6.3 years, body mass index (BMI) 30.4 ± 6.1 kg/m2 and body fat of 39.1 ± 13%. A total of 90 women had 25OHD deficiency, and hypovitaminosis D was observed more in younger, obese patients. Patients with hypovitaminosis D had a higher BMI (P = 0.0124), low- high-density lipoprotein (P = 0.0094), calcium (P ≤ 0.0001), and elevated testosterone (P = 0.0412) in comparison with normal 25OHD patients. None of the metabolic parameters showed significant correlation with 25OHD (P > 0.05).Conclusion:Hypovitaminosis D is very common in PCOS patients and exacerbates the metabolic abnormalities. It is essential to screen all the PCOS patients for 25OHD deficiency, and further large-scale studies are required to confirm our findings.

Elderly people and people with co-morbidities have emerged as the most vulnerable group at risk of developing complications and succumbing to novel coronavirus (COVID-19) infection. We recorded the baseline demographic profile, baseline clinical and laboratory parameters, and prevalence of various co-morbidities and their effect on the prognosis of COVID-19 cases. We conducted a prospective observational study and analyzed baseline clinical and laboratory parameters and co-morbidities and their effect on severity and mortality in 710 COVID-19 cases. Seven hundred ten patients with laboratory-confirmed COVID-19 were recruited from the 28 th of March to the 31 st of August 2020. The mean age was 48.4 ± 16.4years. A total of 530 (74.6%) patients were male. Overall, the mean length of hospital stay was 12.7 days. In total, 645 patients(90.8%) were mild to moderate cases and did not require initial ICU care. Sixty-five (9.2%) cases required initial intensive care unit care. Fifty (7%) admitted patients succumbed to the illness. Diabetes mellitus and hypertension increased the risk of death in COVID-19 patients irrespective of age. Increasing age and co-morbidities adversely affect the prognosis of patients of COVID-19. Diabetes mellitus and hypertension increase the risk of death in COVID-19 patients and negate the incremental effect of age on death in these patients.