[A Case of Upper Urinary Tract Stone in an Infant].

A 238-day-old female infant (122 days of age corrected for prematurity, weight 4,847 g) presented with macrohematuria. She was born at 23 weeks and3 days of pregnancy. Her birth weight was 492 g. Ultrasound revealeda 3×2 mm left ureteral stone and left hydronephrosis of grade I-II in the Society of Fetal Urology (SFU) Classification. She suffered from frequent vomiting and weight loss, and was treated with analgesics and rehydration. Eventually, left hydronephrosis was relieved, and she passed the stone at 271 days of age. The stone was 4×3×2 mm in size, and consisted of 98% calcium oxalate and2% calcium phosphate. No recurrent stone has been found during follow-up.

A Quality Improvement Collaborative Program for Neonatal Pain Management in Japan.

BACKGROUND: Neonatal pain management guidelines have been released; however, there is insufficient systematic institutional support for the adoption of evidence-based pain management in Japan. PURPOSE: To evaluate the impact of a collaborative quality improvement program on the implementation of pain management improvements in Japanese neonatal intensive care units (NICUs). METHODS: Seven Japanese level III NICUs participated in a neonatal pain management quality improvement program based on an Institute for Healthcare Improvement collaborative model. The NICUs developed evidence-based practice points for pain management and implemented these over a 12-month period. Changes were introduced through a series of Plan-Do-Study-Act cycles, and throughout the process, pain management quality indicators were tracked as performance measures. Jonckheere's trend test and the Cochran-Armitage test for trend were used to examine the changes in quality indicator implementations over time (baseline, 3 months, 6 months, and 12 months). FINDINGS: Baseline pain management data from the 7 sites revealed substantial opportunities for improvement of pain management, and testing changes in the NICU setting resulted in measurable improvements in pain management. During the intervention phase, all participating sites introduced new pain assessment tools, and all sites developed electronic medical record forms to capture pain score, interventions, and infant responses to interventions. IMPLICATIONS FOR PRACTICE: The use of collaborative quality improvement techniques played a key role in improving pain management in the NICUs. IMPLICATIONS FOR RESEARCH: Collaborative improvement programs provide an attractive strategy for solving evidence-practice gaps in the NICU setting.

Phenotypic variability in a family with Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterized by external ear anomalies with sensorineural hearing loss, limb anomalies, renal and anorectal malformations. TBS is caused by mutations in SALL1, a gene mapped to chromosome 16q12.1. We report three generations of a family with SALL1 c.1326delC (p.Ser442fs) mutation, showing increased clinical severity over generations. The members of the first generation demonstrated polydactyly and deafness. In the second generation, the mother and uncle of the proband additionally had renal and/or anal anomalies. The proband in the third generation showed the most severe symptoms including congenital heart disease. Increase in clinical severity in successive generations in TBS cannot be explained genetically. There is wide clinical variation in TBS; however, most affected parents are usually mildly affected and may have similarly or more severely affected children. Social and/or physical bias at reproduction may contribute to an apparent increase in clinical severity over generations in TBS.