Saheed Laxman Nayak Medical College and Hospital

BACKGROUND:Children with genetic syndromes frequently have congenital heart disease (CHD) and are at an increased risk of sleep disorders due to overlapping anatomical, neurological, and cardiopulmonary vulnerabilities. Despite growing recognition, sleep disorders remain underdiagnosed in this high-risk population, with potential consequences for cardiovascular health, neurodevelopmental health, and quality of life. OBJECTIVE:To comprehensively review the prevalence, patterns, pathophysiological mechanisms, diagnostic challenges, and management strategies of sleep disorders in children with genetic syndromes associated with CHD. METHODS:A comprehensive systematic literature search was conducted across PubMed/MEDLINE, Scopus, Web of Science, Google Scholar, and the Cochrane Library for studies published between January 2010 and December 2022. Eligible studies included children and adolescents (0-18 years) with genetic syndromes in which the CHD prevalence exceeded 30% and reported sleep-related outcomes. Forty-two studies met the inclusion criteria and were narratively synthesized. RESULTS:Sleep-disordered breathing, particularly obstructive sleep apnea, was the most prevalent sleep disorder across syndromes, with the highest rates reported in Down syndrome, Noonan syndrome, and CHARGE syndrome. Central sleep apnea, hypoventilation, insomnia, and circadian rhythm disturbances were observed in syndromes with neurological or hypothalamic involvement. Sleep disorders are consistently associated with adverse cardiovascular, neurodevelopmental, and metabolic outcomes. CONCLUSION:Sleep disorders are common, clinically significant, and under-recognized in children with genetic syndromes and CHD. Routine screening and multidisciplinary management are essential for improving long-term outcomes. Future prospective studies are needed to clarify the causal relationships and treatment efficacy.

Background: The placenta is vital fetomaternal organ that sustains pregnancy and promotes optimal neonatal outcomes. Evidence suggest that preeclampsia is associated with architectural and functional changes in the placenta, which may eventually influence the intrauterine foetal development. Aim: This study is intended to explore placental morphological changes in preeclampsia pregnancies and to evaluate their association with fetal outcomes in comparison with normotensive pregnancies. Methods: A total of 150 placentas were collected post-delivery from normotensive (n=75) and preeclampsia (n=75) pregnancy. Placental morphometric parameters including weight, diameter, thickness, radius, surface, volume and number of cotyledons and fetal weights were measured. Morphological features such umbilical cords as insertion and the presence of placental infarcts were also documented. Comparative analyses between groups were performed using the unpaired Student’s t-test and Chi-square test with SPSS software. Results: Placentas from preeclampsia pregnancies exhibited significant (p ≤0.001) reductions in weight (360.09 ± 74.89 vs 471.25 ± 79.68), index ( 0.170 ± 0.032 vs 0.167 ± 0.033), diameter (15.81 ± 1.55 vs 18.21 ± 1.26), thickness (1.83± 0.46 vs 2.45 ± 0.43), radius (7.90 ± 0.77 vs9.11 ± 0.63), surface area (197.93 ± 37.91 vs 261.82 ± 36.45), volume (370.98 ± 139.73 vs 646.08 ± 162.94) and number of cotyledons (16.37 ± 2.03 vs 18.13 ± 1.71) as compared to normotensive pregnancy. Placental infarctions were significantly (p ≤0.001) higher in preeclampsia. Most placentas in the normotensive group weighted between 401-500 g, whereas preeclamptic group, weights predominantly ranged from 301-400 g. Additionally, fetal birth weights were significantly (p ≤0.001) lower in preeclamptic pregnancies (2008.36 ± 309.61 vs 2708.29 ± 392.78) with respective to normotensive pregnancy. Conclusion: Study confirms that preeclampsia is associated with significant changes in both placental morphology and morphometry. It’s concluded that, these definitive changes likely to impair placental function contributing to reduced uteroplacental perfusion and nutrition, consequently, lower fetal birth weight.

Tracheostomy is a common surgical procedure often associated with significant preoperative anxiety and fear among patients. While psychological distress before surgery is well documented, limited evidence exists regarding early postoperative changes in anxiety following tracheostomy. This study aimed to assess and compare patient-reported anxiety and fear levels before and after tracheostomy using a Visual Analogue Scale (VAS). This study was conducted as a pre- and post-operative cross-sectional analytical study at a tertiary care teaching hospital. Adult patients undergoing tracheostomy for various clinical indications were assessed at two distinct cross-sectional time points: once in the pre-operative period before tracheostomy and once in the post-operative period, at 48 h after the procedure, when patients were clinically stable and able to respond reliably. Anxiety and fear were measured using a structured Visual Analogue Scale (VAS)-based tool, consisting of multiple domains specifically relevant to tracheostomy. Comparison between pre-operative and post-operative anxiety scores was performed using paired Student’s t-test for normally distributed data and Wilcoxon signed-rank test for non-normally distributed data. The study included 50 patients with a mean age of 57.4 ± 13.0 years and equal sex distribution. Mean total VAS anxiety scores decreased significantly from 77.8 ± 3.62 preoperatively to 31.3 ± 3.67 postoperatively (p < 0.001). All individual anxiety and fear domains, including fear of breathing difficulty, pain, loss of speech, altered appearance, emergency panic, and long-term dependence, showed statistically significant reductions following tracheostomy (all p < 0.001). The greatest improvements were observed in domains related to breathing difficulty and emergency-related panic. Tracheostomy is associated with a significant early reduction in patient-reported anxiety and fear, suggesting that relief of airway compromise may outweigh anticipated psychological distress. Routine assessment and targeted counselling for anxiety should be integrated into tracheostomy care to improve patient-centred outcomes.

This study reports the development and evaluation of an Aloe vera-based herbal hair gel enriched with biogenic silver nanoparticles (AgNPs) for enhanced scalp care and therapeutic benefits. The formulation was assessed for structural, physicochemical, and biological properties. Optical microscopy revealed a stable gel matrix with smooth morphology, while physicochemical evaluations confirmed transparency, homogeneity, absence of lumps, optimal viscosity (5.2 cP), spreadability (166.67 g·cm/s), and skin-friendly pH (6.92), ensuring suitability for topical application. AgNPs infused hairgel was characterized using DLS, zeta potential and FTIR, confirming nanoparticle formation and stability (zeta potential: − 27.54 mV; average size: 776.9 nm; PDI: 0.358). FTIR showed characteristic peaks at 594 cm further validated synthesis. Biological assays revealed strong antimicrobial activity against E. coli (12 mm) and Candida albicans (11 mm) at 100 µg/mL. Antioxidant evaluation demonstrated significant DPPH (34.79–80.45

Transmembrane serine protease 6 (TMPRSS6) gene polymorphisms have been associated with alterations in iron status and hematological parameters linked to iron homeostasis. Among the reported TMPRSS6 variants, rs855791 (c.2207 T > C; p.V736A) is the most consistently replicated and the only common variant with a demonstrated functional effect on iron metabolism. This study was conducted to analyse the impact of TMPRSS6 (rs855791) gene polymorphism on serum ferritin level and erythrocyte indices in a pediatric cohort evaluated for anemia, comprising children with and without iron deficiency anemia (IDA). TMPRSS6 (rs855791) genotyping was performed in 282 children suspected of anemia. Clinical data, complete blood counts and serum ferritin were recorded, and associations between genotypes (including dominant and recessive models), hematological parameters and iron status were assessed. Children were categorized on the basis of serum ferritin level into IDA (n = 70) and non-IDA (n = 212) groups. The genotype and allele frequencies did not differ significantly between the two groups, indicating no association between rs855791 and the risk of IDA. Serum ferritin was lowest in the ‘TT’ genotype, intermediate in ‘TC’ and highest in ‘CC’, following a graded (allele-dose) pattern, and mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were nominally lower in the ‘TT’ genotype. In the pre-specified age- and sex-adjusted additive models, each additional ‘C’ allele was associated with higher ferritin, MCV, MCH and hemoglobin, and these associations withstood Benjamini–Hochberg correction (all q ≤ 0.042), whereas the unadjusted three-genotype comparisons did not (q = 0.052–0.087). In conclusion, in this pediatric cohort TMPRSS6 (rs855791) showed evidence of association with serum ferritin, the erythrocyte indices MCV and MCH, and hemoglobin as continuous traits—most convincingly as an allele-dose trend in multivariable models—rather than with the risk of IDA itself.