Turkish J Pediatr
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Although genetic factors are assumed to have a role in the etiology of respiratory distress syndrome (RDS), specific genes underlying this susceptibility are incompletely known. The most promising candidates are the genes coding for the lung-specific protein components of the surfactant. In congenital absence of surfactant protein A in mice, lung mechanics or surfactant homeostasis is normal. ⋯ Unlike surfactant protein A, it does not contribute to lowering surface tension. Surfactant protein D-deficient mice have no respiratory abnormalities at birth, but it causes development of emphysema and predisposition to specific infections. No human infant or child with respiratory distress and mutation in the surfactant protein D gene has been identified.
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Case Reports
Community-acquired pneumonia and empyema caused by Pseudomonas stutzeri: a case report.
Pseudomonas stutzeri is an aerobic, nonfermentative, gram-negative rod with polar monotrichous flagella. We report the case of a four-year-old boy who developed community-acquired pneumonia and empyema caused by P. stutzeri. To our knowledge, this is the first report on community-acquired pneumonia and empyema caused by this organism in childhood.
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Poisoning represents one of the most common medical emergencies in childhood, and epidemiological properties differ from country to country. Thus, special epidemiological surveillance for each country is necessary to determine the problem according to which preventive measures can be taken. The purpose of this study was to clarify the characteristics of acute poisoning cases admitted to a pediatric referral hospital. ⋯ Analgesics, tricyclic antidepressant drugs (which seemed to form a new and dangerous group) and caustic/corrosive substances were the most commonly ingested agents. The early awareness of poisoning and appropriate therapeutic measures taken seemed to be efficacious with a very low mortality rate. The epidemiological and preventive properties of childhood poisonings should be further searched by prospectively designed multicentered studies throughout our country.
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We report an 11-year-old boy who had isolated hypoglossal nerve palsy one week after symptoms and signs of urticarial lesions. Neuroradiological examinations and other investigations for etiology of hypoglossal nerve palsy and urticaria were normal. We suggest that all patients with hypoglossal palsy must be carefully evaluated for atypical findings and etiologies.
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Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. ⋯ High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.