Indian journal of pediatrics
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Case Reports
Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic and central nervous system dysfunction with impaired control of breathing. The authors report a 37- d-old girl infant with recurrent apnea requiring repeated mechanical ventilation with no evidence of neuromuscular, cardiac or lung disease. A mutation analysis of PHOX2B gene revealed 25 polyalanine repeat expansion mutation on chromosome 4p12. This article aims at raising awareness among pediatricians about molecular basis and availability of confirmatory genetic testing for diagnosis and to help with prognosis in this disorder.
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The good quality laboratory services in developing countries are often limited to major urban centers. As a result, many commercially available high-quality diagnostic tests for infectious diseases are neither accessible nor affordable to patients in the rural areas. Health facilities in rural areas are compromised and this limits the usability and performance of the best medical diagnostic technologies in rural areas as they are designed for air-conditioned laboratories, refrigerated storage of chemicals, a constant supply of calibrators and reagents, stable electrical power, highly trained personnel and rapid transportation of samples. ⋯ The already available POC tests which are reliable and affordable, like for HIV infection, malaria, syphilis, and some neglected tropical diseases, and POC tests being developed for other diseases if correctly used and effectively regulated after rigorous evaluation, have the potential to make a difference in clinical management and improve surveillance. In order to use these tests effectively they would need to be supported by technically competent manpower, availability of good-quality reagents, and healthcare providers who value and are able to interpret laboratory results to guide treatment; and a system for timely communication between the laboratory and the healthcare provider. Strengthening the laboratories at the rural level can enable utilization of these diagnostics for improving the diagnosis and management of infectious diseases among children which require prompt treatment and thus, considerably reduce morbidity and mortality among the pediatric age group.
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Randomized Controlled Trial
Role of sucrose in reducing painful response to orogastric tube insertion in preterm neonates.
To study whether orogastric tube (OGT) insertion elicits a painful response in preterm neonates, and the role of oral sucrose in reducing this pain. ⋯ OGT insertion causes pain in preterms and single dose lingual 24 % sucrose may alleviate this pain.
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To assess the knowledge and perception regarding pain amongst nursing staff and to determine whether varying clinical exposure to painful procedures in children had any association with their perception of pain. ⋯ The deficit in knowledge and shortcomings in perception of nursing staff needs to be addressed and steps need to be taken to improve the nurse's knowledge and modify beliefs and attitude of the nursing staff towards the pain of the pediatric patients.