RESUMEN
Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. We report on a family with two males with this disorder and a Xq22.3 deletion. Fluorescent in situ hybridization and genomic analyses mapped the deletion region to between exon 1 of COL4A5 and exon 12 of ACSL4. The patients' mother has microscopic hematuria and was found to be heterozygous for the Xq22.3 deletion. Analysis using reverse transcription polymerase chain reaction of lymphoblastoid cell line RNA from an affected male in the family revealed a stable chimeric transcript with the ACSL4 exons 13-17 replaced by a cryptic exon from intron 1 of the COL4A5 gene. A truncated 54 kDa protein was predicted from this transcript but Western blot analysis and ACSL4 enzyme assay both showed functional nullisomy of ACSL4. We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos X/genética , Discapacidad Intelectual Ligada al Cromosoma X/genética , Nefritis Hereditaria/genética , Preescolar , Coenzima A Ligasas/genética , Colágeno Tipo IV/genética , Análisis Mutacional de ADN , Facies , Femenino , Humanos , Hibridación Fluorescente in Situ , Trastornos del Desarrollo del Lenguaje/genética , Masculino , Linaje , FenotipoRESUMEN
Pediatric training in community office-based settings has been demonstrated to be an effective means of providing "real-world" experiences to students and residents. Although it is often challenging with regards to addressing logistic and conceptual issues, such training provides important practical experiences that may prove critical to the future practice of not only primary care pediatrics but also pediatric subspecialty care. It also may be the key to enhancing the interaction between the two.
Asunto(s)
Pediatría/educación , Preceptoría , Enseñanza/métodos , Humanos , Internado y Residencia , Administración de la Práctica Médica , Estudiantes de Medicina , Estados UnidosRESUMEN
BACKGROUND: Excessive and inappropriate use of antibiotics has been identified as a leading cause of the emergence of multiply resistant strains of pneumococci. OBJECTIVE: To examine the effects of academic detailing and a parental education program on community pediatricians' prescription of antibiotics for young children. METHODS: Physician leaders in study practices prepared educational modules and presented the modules to their practices. The control groups received only practice-specific report cards. Using a time-series analysis, we collected data on office visits and antibiotic prescriptions filled between May 1, 2000, and April 30, 2001 (baseline period), and between May 1, 2001, and April 30, 2002 (intervention period). Antibiotic prescription rate was defined as the ratio of antibiotic prescriptions filled to the number of office visits. RESULTS: The antibiotic prescription rate decreased to 0.82 (95% confidence interval, 0.71-0.95) of the baseline rate for the study group (6 practices) and to 0.86 (95% confidence interval, 0.77-0.95) of the baseline for the control group (5 practices). Similar patterns for antibiotic prescription rates were seen for study and control groups both before and after the intervention. Wide variations in prescription rates were observed among the practices, but, in general, the control practices had lower antibiotic prescribing rates during both the baseline and the intervention periods. Use of amoxicillin increased slightly in the study group and decreased slightly in the control group. The use of cephalosporins increased slightly in both groups. CONCLUSION: Overall, academic detailing appeared to be no more effective in reducing antibiotic use than the practice-specific report cards alone.