Charles A. Cowan

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Purpose: The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements. Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5–30.1 Mb) have been associated with autism, intellectual disability, congenital anomalies, and schizophrenia. However, a separate, distal 200-kb region in 16p11.2 (28.7–28.9 Mb) that includes the SH2B1 gene has been recently associated with isolated obesity. The purpose of this study was to better define the phenotype of this recurrent SH2B1-containing microdeletion in a cohort of phenotypically abnormal patients not selected for obesity.Methods: Array comparative hybridization was performed on a total of 23,084 patients in a clinical setting for a variety of indications, most commonly developmental delay.Results: Deletions of the SH2B1-containing region were identified in 31 patients. The deletion is enriched in the patient population when compared with controls (P = 0.003), with both inherited and de novo events. Detailed clinical information was available for six patients, who all had developmental delays of varying severity. Body mass index was ≥95th percentile in four of six patients, supporting the previously described association with obesity. The reciprocal duplication, found in 17 patients, does not seem to be significantly enriched in our patient population compared with controls.Conclusions: Deletions of the 16p11.2 SH2B1-containing region are pathogenic and are associated with developmental delay in addition to obesity.

Augmentation Cystoplasty Rates at Children’s Hospitals in the United States: A Pediatric Health Information System Database Study

PURPOSE We identified augmentation cystoplasty rates in children with spina bifida at childrens hospitals enrolled in the Pediatric Health Information System database. MATERIALS AND METHODS The Pediatric Health Information System database tabulates demographic and diagnostic patient data from 35 childrens hospital centers in the United States. Between October 1999 and September 2004 we extracted data on 0 to 19-year-old patients with International Classification of Diseases-9 diagnosis codes for spina bifida. The International Classification of Diseases-9 procedure code for augmentation cystoplasty was cross-referenced with these patients to determine the total number of patients with augmentation, total population augmentation rates and individual institution rates of bladder augmentation. RESULTS Staff at enrolled pediatric medical centers submitted inpatient data accounting for 9,059 beds servicing an aggregate metropolitan population of 82 million individuals. In the 5-year period 12,925 unique spina bifida patient encounters were identified, including 665 patients who underwent augmentation cystoplasty. The mean 5-year institutional number of augmentations performed in children with spina bifida was 20 (range 1 to 121) and the mean annual number of augmentations performed per institution was 4. The overall augmentation rate at 33 hospitals contributing data for the full years 2000 to 2003 was 5.4% (range 0.5% to 16.3%, p <0.0001). The male-to-female ratio of those who underwent augmentation was 1:1.2. Median length of stay in children with augmentation was 7 days (mean 9). The median age of children with augmentation was 10.4 years, that is 11.3 years in boys and 9.8 years in girls. The difference in mean age was statistically significant (p <0.003). At institutions where 10 or more augmentations were performed in 5 years (mean 27) mean patient age at operation was 10.1 years. This was significantly younger than the mean patient age of 12.3 years at hospitals where fewer than 10 augmentations (mean 5) were done in 5 years (p <0.05). CONCLUSIONS Clinical management for neurogenic bladder conditions has evolved to emphasize nonoperative management. Several studies suggest that aggressive early intervention improves bladder compliance and may protect renal function. However, results from the Pediatric Health Information System database demonstrate no change in augmentation rates during this time and they demonstrate significant interinstitutional variability. To our knowledge this represents the largest series of augmentation cystoplasty in children with spina bifida to date.

Variation in inpatient resource utilization and management of apparent life-threatening events.

OBJECTIVE To report national variations in diagnostic approaches to apparent life-threatening events (ALTEs) and resource utilization. STUDY DESIGN Using the Pediatric Health Information System, we studied children who were age 3 days to 5 months at admission and were discharged with an International Classification of Diseases, Ninth Revision (ICD-9) code potentially identifiable as ALTE. Multiple analysis of variance was used to determine whether the variances in adjusted charges, length of stay (LOS), and diagnostic studies were hospital-related after controlling for other covariates. Logistic regression was used to study the association of readmission rates with discharge diagnosis and specific diagnostic studies. RESULTS The study group comprised 12,067 patients, with a mean LOS of 4.4 days (standard deviation +/- 5.6 days) and mean adjusted charges of

Surgical Management of Congenital Ureteropelvic Junction Obstruction: A Pediatric Health Information System Database Study

15,567 (

Newborn care by pediatric hospitalists in a community hospital: effect on physician productivity and financial performance.

28,510) per admission. The mean in-hospital mortality rate was 0.56% (n = 68), and the rate of 30-day readmission was 2.5%. The most common discharge diagnoses were gastroesophageal reflux 36.9% (48.3%) and lower respiratory tract infection 30.8% (46.2%). Mean LOS, total adjusted charges, and use of diagnostic studies varied considerably across hospitals, and hospital-level differences were a significant contributor to the variance of these outcomes after controlling for covariates (P < .001). There was an increased likelihood of readmission for patients discharged with a diagnosis of cardiovascular disorders (odds ratio [OR] = 1.68; 95% confidence interval [CI] = 1.30 to 2.16) and gastroesophageal reflux (OR = 1.32; 95% CI = 1.03 to 1.69) compared with other discharge diagnoses. CONCLUSIONS There is considerable hospital-based variation in care for patients hospitalized for conditions potentially identifiable as ALTE, particularly in the evaluation and diagnosis of gastroesophageal reflux, which may contribute to adverse clinical and financial outcomes. An evidence-based national standard of care for ALTE is needed, as are multi-institutional initiatives to study different diagnostic and management strategies and their effect on patient outcomes.

The Evolution of Vesicoureteral Reflux Management in the Era of Dextranomer/Hyaluronic Acid Copolymer: A Pediatric Health Information System Database Study

PURPOSE Although laparoscopic pyeloplasty has gained popularity, to our knowledge no multi-institutional study has evaluated the prevalence of this approach in children. We used a multicenter database to determine trends in the treatment of congenital ureteropelvic junction obstruction. MATERIALS AND METHODS The Pediatric Health Information System database contains data on 37 freestanding hospitals for children across the United States. We extracted data on 0 to 19-year-old patients from 2001 to 2006 with the ICD-9 diagnosis code for congenital ureteropelvic junction obstruction and the procedure code for the correction of ureteropelvic junction obstruction. We identified laparoscopic cases based on hospital charges for 1) laparoscope, 2) trocar, 3) insufflating needle or 4) insufflator and tubing. Data were then analyzed using the chi-square and Student t tests to determine management trends. RESULTS We identified 2,353 patients, of whom 2,177 (92.5%) underwent open pyeloplasty and 176 (7.5%) underwent laparoscopic pyeloplasty. The percent of pediatric pyeloplasties performed laparoscopically increased from 2001 to 2003 (2.53% to 9.73%) and has since remained stable. Patients undergoing laparoscopic pyeloplasty were significantly older than those in the open group (age 8.2 vs 3.3 years, p <0.0001). Average hospital charges were significantly higher in the laparoscopic group than in the open group (

Cooperation predictors for dental patients with autism.

23,295.71 vs

Fluorine Magnetic Resonance Spectroscopy Measurement of Brain Fluvoxamine and Fluoxetine in Pediatric Patients Treated for Pervasive Developmental Disorders

16,467.49, p <0.05). There was no significant difference in terms of race, gender or length of stay. CONCLUSIONS The percent of pediatric pyeloplasties performed laparoscopically has increased with time. However, laparoscopic pyeloplasty is associated with higher hospital charges than open surgery without a significant decrease in length of stay.

Injection volumes of dextranomer/hyaluronic acid are increasing in the endoscopic management of vesicoureteral reflux

OBJECTIVE To describe financial outcomes and physician productivity associated with the inclusion of well-newborn services in a pediatric hospitalist program in a community hospital. DESIGN Retrospective review of professional billing records and physician activity logs for newborn and inpatient care, consultations, and procedures. SETTING Pediatric hospitalist program in a community hospital during a 24-month period from August 1, 2002, through July 31, 2004. MAIN EXPOSURES Newborn care. MAIN OUTCOME MEASURES Financial productivity. RESULTS Pediatric hospitalists provided daily rounds and on-call services for inpatients and newborns with an average daily census of 3.1 inpatients and 7.9 newborns. Annual work relative value units production was 1508, and gross charges were

The Conversion to Metered-Dose Inhaler With Valved Holding Chamber to Administer Inhaled Albuterol: A Pediatric Hospital Experience

162,920 per staffed full-time equivalent. With mean work relative value unit production of 13.8 relative value units per day and average payment rates of