Heterozygous loss-of-function mutation in Odd-skipped related 1 () is associated with vesicoureteric reflux, duplex systems, and hydronephrosis.

Odd-skipped related 1 (Osr1) is a transcriptional repressor that plays critical roles in maintaining the mesenchymal stem cell population within the developing kidney. Here, we report that newborn pups with a heterozygous null mutation in exhibit a 21% incidence of vesicoureteric reflux and have hydronephrosis and urinary tract duplications. Newborn pups have a short intravesical ureter, resulting in a less competent ureterovesical junction which arises from a delay in urinary tract development.

'I'm only dealing with the acute issues': How medical ward 'busyness' constrains care of the dying.

Acute hospital units are a common location of death. Curative characteristics of the acute medical setting make it difficult to provide adequate palliative care; these characteristics include an orientation to life-prolonging treatment, an emphasis on routine or task-oriented care and a lack of priority on emotional engagement with patients. Indeed, research shows that dying patients in acute medical units often experience unmet needs at the end of life, including uncontrolled symptoms (e.

Update on the use of immunoglobulin in human disease: A review of evidence.

Human immunoglobulin preparations for intravenous or subcutaneous administration are the cornerstone of treatment in patients with primary immunodeficiency diseases affecting the humoral immune system. Intravenous preparations have a number of important uses in the treatment of other diseases in humans as well, some for which acceptable treatment alternatives do not exist. We provide an update of the evidence-based guideline on immunoglobulin therapy, last published in 2006.

Increased Caspase-6 activity in the human anterior olfactory nuclei of the olfactory bulb is associated with cognitive impairment.

Abnormally elevated hippocampal Caspase-6 (Casp6) activity is intimately associated with age-related cognitive impairment in humans and in mice. In humans, these high levels of Casp6 activity are initially localized in the entorhinal cortex, the area of the brain first affected by the formation of neurofibrillary tangles, according to Braak staging. The reason for the high vulnerability of entorhinal cortex neurons to neurofibrillary tangle pathology and Casp6 activity is unknown.

Long-term functional outcomes after bladder exstrophy repair: A single, low-volume centre experience.

Introduction: In this study, we present our experience managing bladder exstrophy (BE) in a low-volume centre over 24 years.

Methods: Charts of patients with BE between 1990 and 2014 were retrospectively reviewed. Patients with BE closure and ≥5 years followup were included.

Comparing Presenting Clinical Features in 48 Children With Microscopic Polyangiitis to 183 Children Who Have Granulomatosis With Polyangiitis (Wegener's): An ARChiVe Cohort Study.

Objective: To uniquely classify children with microscopic polyangiitis (MPA), to describe their demographic characteristics, presenting clinical features, and initial treatments in comparison to patients with granulomatosis with polyangiitis (Wegener's) (GPA).

Methods: The European Medicines Agency (EMA) classification algorithm was applied by computation to categorical data from patients recruited to the ARChiVe (A Registry for Childhood Vasculitis: e-entry) cohort, with the data censored to November 2015. The EMA algorithm was used to uniquely distinguish children with MPA from children with GPA, whose diagnoses had been classified according to both adult- and pediatric-specific criteria.

Comprehensive analysis of the clinical and urodynamic outcomes of primary tethered spinal cord before and after spinal cord untethering.

Introduction: Primary tethered spinal cord (TSC) refers to a group of abnormalities associated with a posterior bony spinal defect that develops beneath an intact dermis and epidermis. There is relative agreement that patients with symptomatic TSC will require surgical intervention. However, it is still debatable as to how to approach asymptomatic patients with primary TSC.

Comprehensive analysis of the clinical and urodynamic outcomes of secondary tethered spinal cord before and after spinal cord untethering.

Objective: Secondary tethering of the spinal cord (TSC) occurs in 3-30% of patients with history of spinal cord dysraphism repair. As many patients with spinal cord dysraphism already have symptoms, it might be difficult to diagnose secondary TSC. Regular clinical/urodynamic (UDS) evaluation is therefore advised to pick-up changes early before they progress.

Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age.

Pilocytic astrocytoma (PA) is the most common brain tumor in children but is rare in adults, and hence poorly studied in this age group. We investigated 222 PA and report increased aneuploidy in older patients. Aneuploid genomes were identified in 45% of adult compared with 17% of pediatric PA.

Pediatric Pleural Empyema in the Province of Quebec: Analysis of a 10-Fold Increase Between 1990 and 2007.

Background: Although the frequency of pneumonia has decreased over time, an increase in pleural empyema has been observed in different settings worldwide. This study assessed the epidemiology of community-acquired pediatric pleural empyema in the province of Quebec through validation of cases found in a hospitalization discharge database.

Methods: We used the national administrative database of hospitalization to identify children (6 months-14 years) hospitalized for pleural empyema or pleural effusion with drainage from January 1990 until December 2007 and reviewed their medical charts.

Sexual maturation among youth with ADHD and the impact of stimulant medication.

Objective: Evaluate the differences in achieving puberty between ADHD and non-ADHD participants and the effects of medication on that process among ADHD participants.

Procedure: A subset of participants with ADHD from the Multimodal Treatment study of ADHD (n = 342) were compared with respect to Tanner staging to participants from a comparison group without ADHD (n = 159) at the 36-month follow-up assessment. Further comparisons were made for Tanner stages and Auxology of the participants in the ADHD group who were always (n = 61), never (n = 56), newly (n = 74) and inconsistently (n = 116) treated with stimulants.

ARHGDIA: a novel gene implicated in nephrotic syndrome.

Background: Congenital nephrotic syndrome arises from a defect in the glomerular filtration barrier that permits the unrestricted passage of protein across the barrier, resulting in proteinuria, hypoalbuminaemia, and severe oedema. While most cases are due to mutations in one of five genes, in up to 15% of cases, a genetic cause is not identified. We investigated two sisters with a presumed recessive form of congenital nephrotic syndrome.

How do asymptomatic toilet-trained children void following tubularized incised-plate hypospadias repair?

Purpose: : To evaluate the functional outcome in the form of urinary flow rates in asymptomatic children following uncomplicated tubularized incised plate urethroplasty (TIPU) hypospadias repair.

Methods: : We reviewed the records of children who underwent TIPU at our institution between April 1997 and September 2007 and included only asymptomatic toilet-trained children who had an uncomplicated postoperative course and had undergone uroflometry not less than 1 year postoperatively. Unfavourable voiding parameters were either a plateau curve, a peak flow below the 5th percentile range in nomogram or a post-void residual (PVR) more than 20% of the total functional capacity of the bladder.

Native nephrectomy prior to pediatric kidney transplantation: biological and clinical aspects.

Background: Pre-transplant nephrectomy is performed to reduce risks to graft and recipient. The aims of this study were to evaluate (1) indications, surgical approach, and morbidity of native nephrectomy and (2) the effects of kidney removal on clinical and biological parameters.

Methods: This study was designed as a single-center retrospective cohort study in which 49 consecutive patients with uni- or bilateral native nephrectomies were identified from a total of 126 consecutive graft recipients in our pediatric kidney transplantation database between 1992 and 2011.

Risk factors for re-operation following tubularized incised plate urethroplasty: a comprehensive analysis.

Objectives: To review our 10-year experience with tubularized incised-plate (TIP) urethroplasty and determine the risk factors for reoperation.

Methods: The hospital records of 391 patients underwent the TIP procedure from April 1997 to September 2007 were reviewed retrospectively. Data were collected with respect to patient demographics, characteristics of the hypospadias malformation, intraoperative factors and postoperative outcome.

Is routine renography required after pyeloplasty?

Purpose: We assessed whether renography should be performed routinely following pyeloplasty.

Materials And Methods: We identified the records of all patients undergoing pyeloplasty at our hospital between 1989 and 2005. Patients were eligible for the study if they had undergone preoperative ultrasound and renal scan, and postoperative ultrasound and renal scan within 3 months and 1 year postoperatively, respectively.

Rituximab (B-cell depleting antibody) associated lung injury (RALI): a pediatric case and systematic review of the literature.

Introduction: Pulmonary toxicity of delayed onset is a rare complication of B-lymphocyte depleting antibody therapy and has been almost exclusively reported in older patients with B-cell malignancies.

Aims: To describe a pediatric patient with rituximab-associated lung injury (RALI), to systematically analyze previous reports of pulmonary complications, and to summarize common clinico-pathological features, treatment, and outcome.

Results: A teenage boy with focal segmental glomerulosclerosis (FSGS) presented with progressive dyspnea, fever, hypoxemia and fatigue 18 days after the completion of a second course of rituximab infusions for calcineurin inhibitor-dependent nephrotic syndrome.

Treatment options for HUS secondary to Escherichia coli O157:H7.

Shiga toxin (Stx)-producing Escherichia coli (STEC)-induced enteropathic HUS (eHUS) is a major cause of acute kidney injury in children and substantial morbidity and mortality in elderly patients. Systemic intestinal absorption of Stx and rapid uptake, through its glycolipid receptor (Gb3), by small vessel endothelial cells, are essential steps in the pathophysiology of STEC disease. HUS is characterized by intravascular hemolytic anemia, thrombocytopenia and acute kidney injury (AKI) that develop abruptly within a week of onset of STEC diarrhea/colitis.

Predictors of mortality and length of stay for neonates admitted to children's hospital neonatal intensive care units.

Objective: Current scoring systems, which adjust prediction for severity of illness, do not account for higher observed mortality in neonatal intensive care units (NICUs) of children's hospitals than that of perinatal centers. We hypothesized that three potential predictors, (a) admission from another NICU, (b) presence of congenital anomalies and (c) need for surgery, would modify expected mortality and/or length of stay for infants admitted to NICUs in children's hospitals.

Study Design: We reviewed consecutive admissions to two NICUs in children's hospitals in Canada.

Postpubertal urodynamic and upper urinary tract changes in children with conservatively treated myelomeningocele.

Purpose: We examined the urodynamic and upper urinary tract changes in children with myelomeningocele treated conservatively through puberty at our institution between 1980 and 2006.

Materials And Methods: A total of 40 patients were exclusively treated conservatively with or without anticholinergics and/or clean intermittent catheterization through puberty at our institution. The records of 37 patients (17 males and 20 females) were available for review and constituted the subject matter for our study.

Dyskeratosis congenita: an autosomal recessive variant.

We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessive entity of DKC. Results of X chromosome inactivation studies did not support X-linked DKC in our family.

Developmental changes in synthesis of and responsiveness to prostaglandins I2 and E2 in hypoxic lamb lungs.

Previous studies have shown that the attenuated hypoxic pulmonary vasoconstriction (HPV) of young newborn lamb lungs was enhanced by cyclooxygenase inhibition. We sought to determine whether this reflected greater synthesis of and (or) responsiveness to dilator prostaglandins (PG). Protocol 1 measured responses to graded hypoxia and perfusate concentrations of 6-keto-PGF1alpha (the stable metabolite of PGI2) and PGE2 in isolated lungs from 1-day- and 1-month-old lambs.