Search

Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis. The histopathological examination shows the presence of rod-like structures or nemaline bodies in muscles. Management remains mainly supportive, and currently, there is no available curative treatment. This case report describes an infant presenting with gross hypotonia, poor handling of secretions and multiple extubation failures who was diagnosed by clinical exome sequencing. The patient harboured compound heterozygous variants in the NEB gene suggestive of nemaline rod myopathy. The newborn showed significant improvement in muscle strength after he was started on dietary L-tyrosine supplementation. This case highlights the emerging role of L-tyrosine in the supportive care of infants with nemaline rod myopathy. [ABSTRACT FROM AUTHOR]

Sepsis is a significant cause of mortality and morbidity in the NICU despite the potent armamentarium of antibiotics. Recently, there has been a considerable increase in antimicrobial resistance even to high-end 3rd line antibiotics. Thus, there is a need to look into adjunctive therapies. This study aims to study the role of double volume exchange transfusion (DVET) in reducing mortality due to severe sepsis. All neonates with severe sepsis admitted in NICU from January 2017 to September 2019 were included in the study. Seven neonates who met inclusion criteria and received DVET were compared to 21 gestation and severity matched controls, who received standard therapy (ST) alone. The primary outcome studied was mortality before discharge in both the groups. Other results analyzed were the incidence of persistent thrombocytopenia and refractory shock. There was a significant reduction in mortality in the intervention group (57% vs. 71% (p =.004). There was also a significant reduction both in the incidence of refractory shock (71% vs. 75%; p =.01) and persistent thrombocytopenia (86% vs. 65%; p =.03) in the DVET group. No significant adverse effects occurred following DVET. In neonates with severe sepsis, DVET may be a useful adjunct therapy. It may reduce mortality and decreased the incidence of refractory shock and thrombocytopenia. DVET is a safe procedure in severely sick and septic neonates. [ABSTRACT FROM AUTHOR]

Byline: Kirti. Naranje, Banani. Poddar, Arpita. Bhriguvanshi, Richa. Lal, Afzal. Azim, Ratender. Singh, Mohan. Gurjar, Arvind. Baronia Objectives: To find the incidence of hyperglycemia (blood glucose [BG] ≥150 mg/dl), hypoglycemia [...]

Background: The falling of Umbilical stump occurs by 7-15 days of age. The healing of umbilical stump may be complicated by Umbilical Granuloma. It is often treated by chemical cauterisation which require repeated applications and may lead to local or systemic complications. Common salt by way of its dessicative property may help in treatment of Umbilical Granuloma.Objective: The objective of the study is to assess the role of common salt application in umbilical granuloma.Materials and Methods: This is retrospective study over 3 years from a pediatric surgery unit in Northern India. The study subjects were infants less than 10 weeks of age who presented with umbilical granuloma. The method of salt application was 1 pinch of common salt for 1 hour twice a day for 3 consecutive days. The babies were assessed at day 5th for resolution. The success was defined as thrice resolution after 3 cycles. The baseline demographic details were taken and the association of success of treatment was analyzed.Results: A total of 36 infants were given treatment in form of common salt application for treatment of umbilical granuloma. The success of around 96% and the cases which presented early responded well. Most of the cases resolved after 3 cycles of treatment.Conclusion: The common salt application is effective in treatment of granuloma without any side effects. [ABSTRACT FROM AUTHOR]

Background: Non-invasive respiratory support for neonates using bubble continuous positive airway pressure (bCPAP) delivery systems is now widespread owing to its safety, cost effectiveness and easy applicability. Many innovative solutions have been suggested to deal with the possible shortage in desperate situations like disasters, pandemics and resource-limited settings. Although splitting of invasive ventilation has been reported previously, no attempts to split non-invasive respiratory support have been reported.Objective: The primary objective was to test the feasibility of splitting the bCPAP assembly using a T-piece splitter in a simulation model.Methods: A pilot simulation-based study was done to split a single bCPAP assembly using a T-piece. Other materials consisted of a heated humidification system, an air oxygen blender, corrugated inspiratory and expiratory tubing, nasal interfaces and two intercostal chest tube drainage bags. Two pressure manometers were used simultaneously to measure delivered pressures at different levels of set bCPAPs at the expiratory limb of nasal interfaces.Results: Pressures measured at the expiratory end of two nasal interfaces were 5.1 and 5.2 cm H2O, respectively, at a flow of 6 L/min and a water level of 5 cm H2O in both chest bags. When tested across different levels of set continuous positive airway pressure (3-8 cmH2O) and fractional inspired oxygen concentration (0.30-1.0), measured parameters corresponded to set parameters.Conclusion: bCPAP splitting using a T-piece splitter is a technically simple, feasible and reliable strategy tested in a simulation model. Further testing is needed in a simulated lung model. [ABSTRACT FROM AUTHOR]

Isolated renal mucormycosis is a rare entity in children. It is potentially fatal when not detected and managed early with antifungal therapy, and surgery as and when needed. We present two immunocompetent children who developed this infection and subsequently succumbed to it. The diagnosis was established postmortem on renal biopsy specimens. We also discuss the 9 cases of isolated renal involvement in children published in literature. [ABSTRACT FROM AUTHOR]