IntroductionWe present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome).Case presentationA 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation.ConclusionBased on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis.Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.
Objective To estimate the levels of perceived stress and determine the professional quality of life domains namely, compassion satisfaction, burnout, and secondary trauma and their associated factors in neonatal intensive care unit (NICU) nurses. Methods A multicenter cross-sectional study was carried out across a number of NICUs in North India from May to June 2022. A total of 223 nurses included in the study were given a self-administered questionnaire consisting of their sociodemographic profile, work profile, PSS 14 scale, and ProQol 5 scale. Data was analyzed using descriptive statistics, correlation coefficient, and multiple regression. Results Based on PSS 14, 52(23.3%), 132(59.2%), and 39(17.5%) nurses experienced mild, moderate, and severe stress, respectively. Burnout and secondary trauma were found to be average in the majority of nurses (178[79.8%] and 175 [78.5%], respectively) in regard to professional quality of life domains. A sizable portion of the nurses was found to have average to high compassion satisfaction. Factors such as more number of night duties, alarms and lights in NICU, lesser professional experience, high workload, being unmarried, and having no children were found to be significant in association with perceived stress and professional quality of life. Conclusion According to this study, the majority of nurses who work in NICUs experience moderate levels of stress, which negatively impacts their professional quality of life. Therefore, it is important to consider various stress management programs based on the stressors.
Background: Gastrointestinal mucormycosis (GIM) is a rare potentially lethal fungal infection in neonates associated with rapid progression and high mortality. Case Characteristics: We herein report 2 preterm and 3 term cases of GIM; all term neonates had perinatal asphyxia. All cases were preoperatively diagnosed as necrotizing enterocolitis (NEC). Observation: All cases underwent laparotomy, and the diagnosis of GIM was made on postoperative histopathological examination. Results: Asphyxia might be an important risk factor for mucormycosis in term neonates, and to improve outcome, a high index of suspicion of GIM should be kept in cases of NEC in neonates, especially in term neonates.
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