Background:Congenital diaphragmatic hernia (CDH) is a complex developmental defect having a multifactorial etiology; i majority of cases (~80%), the cause is not known. Survival rates for patients with CDH have increased over the past decade with early prenatal detection and better postnatal management including surgery. Clinical profile and the outcome of 83 CDH neonates were studied and analyzed over a period of 12 years in our institute.Aims and Objectives:The clinical study was to analyze the clinical profile and outcome of CDH among the neonates in a tertiary care referral neonatal and pediatric center in Karnataka, India.Materials and Methods:This was a retrospective and prospective observational study conducted from January 2005 to March 2017, over a period of 12 years in a tertiary care referral neonatal and pediatric center in southern India. Clinical characteristics and risk factors of 83 neonates admitted and diagnosed with CDH were compared between survivors and nonsurvivors both preoperatively and postoperatively. Neonates with clinical and intraoperative diagnosis of diaphragmatic eventration were not included in this study. Multivariate logistic regression analysis was performed to determine independent predictors for mortality.Results:A total of 83 neonates admitted and diagnosed with CDH were included in this study; 73 of them underwent surgical repair. The total survival rate in neonates with CDH was 70/83 (84.33%) and the overall operative mortality was 3/73 (4.1%). There was a significant difference between CDH neonates who survived 70/83 (84.33%) and those who died 13/83 (15.67%), in the age on admission, 5 min Apgar score, onset of respiratory distress, preoperative ventilation, the presence of persistent pulmonary hypertension of the newborn (PPHN), high-frequency oscillatory ventilation (HFOV), and length of hospital stay with P < 0.05. Using multivariate logistic regression analysis, the following factors independently predicted mortality: onset of respiratory distress in hours (odds ratio: 0.5, 95% confidence interval: 0.37–0.82) and preoperative ventilation (odds ratio: 0.02; 95% confidence interval: 0.0028–0.1558). When we compared CDH neonates who survived after surgery (n = 70) with those who expired (n = 3) postoperatively, there was a significant difference in the gestational age in weeks, side of CDH, PPHN, HFOV and length of hospital stay with P < 0.05.Conclusion:CDHs are common on the left side with fairly good prognosis. Though, the right-sided CDH are rare; they do carry a good prognosis, as it was seen in our experience.
<b><i>Introduction:</i></b> Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants in the Glucosidase beta acid (<i>GBA</i>) gene result in defective functioning of glucosylceramidase that causes deposition of glucocerebroside in cells. GD has 3 major types namely, non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). Definite treatment options are limited and expensive. They succumb early to the disease, if untreated. There is paucity of studies from the Indian subcontinent, which elicit the factors resulting in their premature mortality. <b><i>Materials and Methods:</i></b> A retrospective study was carried out in a tertiary care setting of South India to assess the clinical profile, mutation spectrum, and various management strategies (only supportive therapy, enzyme replacement therapy [ERT], substrate reduction therapy [SRT] haematopoietic stem cell transplant [HSCT]), and mortality predictors of patients with GD from 2004 to 2019. A Kaplan-Meier survival curve was plotted. In silico predictions were performed for novel variants. <b><i>Results:</i></b> There were 60 patients with all types of GD seen over the study period of 15 years. Their median age at diagnosis was 2 years. The median follow-up was for 5 years (interquartile range [IQR] = 2–8). The overall mortality rate was 35%; however, it was only 10% in those receiving definite treatment. Mortality was higher (47.5%) by more than 4 folds in those only on supportive therapy. The median survival from the time of diagnosis was 6.3 years (IQR = 3.5–10.8) in the definite treatment group and 3.5 years (IQR = 1–5) in those on supportive therapy. The Kaplan-Meier survival analysis showed significant (<i>p</i> value 0.001) mortality difference between these groups. The multiple logistic regression analysis found the neuronopathic type (OR = 5) and only supportive therapy (OR = 6.3) to be the independent risk factors for premature mortality. <b><i>Conclusion:</i></b> GD is a rare disease with a high mortality rate, if left untreated. ERT and SRT are the definitive treatments which increase the survival. In resource-limited settings like India, with higher prevalence of the neuronopathic type, HSCT may be a more suitable definitive treatment option, due to its one-time intervention and cost, assuming similar efficacy to ERT. However, the efficacy and safety of HSCT in GD needs to be established further by substantial patient numbers undergoing it.
Background: Vitamin D deficiency has been rediscovered as a public health problem worldwide. Few studies have shown that vitamin D deficiency is associated with asthma severity. The objective of present work was to study the serum vitamin D levels and its relationship with asthma severity in children.Methods: A prospective cohort study of 100 children with asthma between the age group of 5 to 15 years and age and sex matched 40 healthy controls who had come to Indira Gandhi Institute of Child Health, Bengaluru was done. These children’s serum vitamin D levels were estimated and correlated with asthma severity.Results: A total of 100 children with asthma and 40 healthy age and sex matched controls were evaluated. The study group had lower vitamin D (34.95 ng/ml) levels as compared to the control group (57.94 ng/ml) which was statistically significant (p<0.05). 68.4% children had significantly low vitamin D levels and severe form of asthma (p value <0.001). There was also a marked rise in absolute eosinophil count in those who had low vitamin D levels (56.6%) (p-value <0.0001).Conclusions: Vitamin D deficiency is an important risk factor for asthma severity. It modifies the immune system and reduces the inflammation. In the present study, low serum vitamin D levels were significantly correlated with severe form of asthma. There was a significant rise in the absolute eosinophil count in those who exhibited deficiency of vitamin D.
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