European journal of pediatrics
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Case Reports
Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.
Mutations in genes critical for surfactant metabolism, including surfactant protein C (SP-C) and ABCA3, are well-recognized causes of interstitial lung disease. Recessive mutations in ABCA3 were first attributed to fatal respiratory failure in full-term neonates, but they are also increasingly being recognized as a cause of respiratory disorders with less severe phenotypes in older children and also adults. Here, we report a 20-month-old boy with interstitial lung disease caused by two distinct ABCA3 mutations. ⋯ Sequence analyses of SP-C and ABCA3 genes were performed using DNA samples from the patient himself, his parents, and his brother. These analyses revealed novel compound heterozygous mutations in the coding exons of ABCA3 in both the patient and his brother: c.2741A > G, of paternal origin, and c.3715_3716insGGGGGG, of maternal origin. Conclusion Since ABCA3 mutations seem to be a heterogeneous entity with various phenotypes, we recommend genetic testing for mutations in SP-C and ABCA3 genes to be considered in children with unexplained interstitial lung disease.
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Observational Study
Multiple health care visits related to a pediatric emergency visit for young children with common illnesses.
We aim to describe the number of health care visits before and after pediatric emergency department (PED) visits for common illnesses in a French tertiary pediatric hospital. This was a prospective cohort study with 501 children under 6 years of age who were evaluated and discharged from a tertiary care PED. Enrollment occurred on eight randomly selected study days between November 2010 and June 2011. The caregivers were then contacted via telephone 8 days later to obtain follow-up data, including information about return visits to health care facilities. Multiple visits were made by 206 (41 %) children, previous visits had occurred for 139 (28 %) children, and return visits had occurred for 94 (19 %) children. Previous and return visits were made at the PED as well as in general practitioners' offices and private pediatric offices. The median age of the subjects was 18 months. Fever was the most common complaint and was associated with more frequent multiple heath care visits. ⋯ Multiple heath care visits for the same illness are frequent, especially for febrile children. Interestingly, this phenomenon concerns every type of health care facility, including the PED, general practitioners' offices, and private pediatric offices. Further studies should be performed to achieve a better understanding of this phenomenon and to test specific interventions, such as parental education and improvement of the information system.
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The aim of the study was to comprehensively describe antibiotic use among children and young adolescents in Germany. Outpatient prescriptions of systemic antibiotics to children (<15 years) were analysed using data from four German statutory health insurances for the years 2004 to 2006. Annual prevalence of antibiotic prescriptions was determined using the average number of insured children during the respective year as reference population. Annual antibiotic prescription rates were calculated per 1,000 person years. Both figures were stratified by age (0-4, 5-9 and 10-14 years) and sex. Frequent indications for prescribing were analysed. Annual prevalence of antibiotic prescriptions rose from 35.68 % [95 % confidence intervals (CI), 35.62-35.75] in 2004 to 37.79 % [95 % CI, 37.72-37.86] in 2006. Prescription rates slightly increased by 6.01 % from 668.54 [95 % CI, 667.34-669.72] antibiotic prescriptions per 1,000 person years in 2004 to 708.71 [95 % CI, 707.47-709.95] in 2006. In 2006, prescriptions of broad-spectrum penicillins (25.09 %), second-generation cephalosporins (18.11 %) and narrow-spectrum penicillins (16.45 %) were most frequent. The most common indication for antibiotic prescribing was tonsillitis followed by bronchitis, otitis media, acute upper respiratory infections and scarlet fever. ⋯ In contrast to other northern European countries, paediatric prescription rates are high in Germany. This and the frequent prescribing of broad spectrum agents for the treatment of mostly viral self-limiting conditions indicate limited adherence to evidence-based practice guidelines in antibiotic prescribing in the German outpatient setting.
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Pelvic inflammatory disease (PID) is a common disorder affecting sexually active adolescents. The Centers for Disease Control and Prevention (CDC) and European CDC report Chlamydia trachomatis as the most common sexually transmitted infection and one of the main etiological agents causing PID. ⋯ The pathogenesis of C. trachomatis infection is complex with recent data highlighting the role of toll-like receptor 2 and four in the mediation of the inflammatory cascade. The authors review the etiology of the disease, explore its pathogenesis, and discuss a variety of strategies that may be implemented to reduce the prevalence of C. trachomatis including: (a) behavioral risk reduction, (b) effective screening of asymptomatic females, (c) targeted male screening, (d) implementation of a sensitive, rapid, self-administered point-of-care testing, and (e) development of an effective vaccine.
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INTRODUCTION AND PURPOSE OF THE STUDY: With this study we aimed to describe a "true world" picture of severe paediatric 'community-acquired' septic shock and establish the feasibility of a future prospective trial on early goal-directed therapy in children. During a 6-month to 1-year retrospective screening period in 16 emergency departments (ED) in 12 different countries, all children with severe sepsis and signs of decreased perfusion were included. ⋯ The outcome in our sample was very good. Many children received treatment early in their disease course, so avoiding subsequent intensive care. While certain variables predispose children to become septic and shocked, in our sample, only measures of organ dysfunction and concomitant treatment proved to be significantly related with outcome. We argue why future studies should rather be large multinational prospective observational trials and not necessarily randomised controlled trials.