Montreal Children's Hospital

About: Montreal Children's Hospital is a healthcare organization based out in Montreal, Quebec, Canada. It is known for research contribution in the topics: Population & Poison control. The organization has 3842 authors who have published 4816 publications receiving 200198 citations.

Reasons for refusal of admission to intensive care and impact on mortality

Abstract: Purpose To identify factors influencing triage decisions and investigate whether admission to the intensive care unit (ICU) could reduce mortality compared with treatment on the ward.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Abstract: Background 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder, affecting an estimated 1 : 2000–4000 live births. Patients with 22q11.2DS have a broad spectrum of phenotypic abnormalities which generally includes congenital cardiac abnormalities, palatal anomalies, and immunodeficiency. Additional findings, such as skeletal anomalies and autoimmune disorders, can confer significant morbidity in a subset of patients. 22q11.2DS is a contiguous gene DS and over 40 genes are deleted in patients; thus deletion of several genes within this region contributes to the clinical features. Mutations outside or on the remaining 22q11.2 allele are also known to modify the phenotype. Methods We utilised whole exome, targeted exome and/or Sanger sequencing to examine the genome of 17 patients with 22q11.2 deletions and phenotypic features found in <10% of affected individuals. Results and conclusions In four unrelated patients, we identified three novel mutations in SNAP29 , the gene implicated in the autosomal recessive condition cerebral dysgenesis, neuropathy, ichthyosis and keratoderma (CEDNIK). SNAP29 maps to 22q11.2 and encodes a soluble SNARE protein that is predicted to mediate vesicle fusion at the endoplasmic reticulum or Golgi membranes. This work confirms that the phenotypic variability observed in a subset of patients with 22q11.2DS is due to mutations on the non-deleted chromosome, which leads to unmasking of autosomal recessive conditions such as CEDNIK, Kousseff, and a potentially autosomal recessive form of Opitz G/BBB syndrome. Furthermore, our work implicates SNAP29 as a major modifier of variable expressivity in 22q11.2 DS patients.

The effect of varying protein quality and energy intake on the nitrogen metabolism of parenterally fed very low birthweight (less than 1600 g) infants.

Abstract: Net nitrogen retention (NNR) and rates of whole-body protein turnover (Q), synthesis, and breakdown (B) were measured in 24 intravenously fed premature infants, birthweight less than 1600 g, at the end of the first week of life. Four regimes were used: Amigenglucose +/- Intralipid; Vamin-glucose +/- Intralipid. Mean protein intake was 2.7 g/kg/day. Mean energy intakes were 68 to 98 kcal/kg/day. Vamin was a better protein source (p less than 0.01), evidence by a higher NNR; 72 +/- 2%, cf. 56 +/- 4% at high-energy intakes. The high-energy intake also improved (p less than 0.01) protein retention (NNR); 64 cf. 50%. Infants receiving 2.9 g of Vamin (394 mg N)/ kg/day and 85 kcal/kg/day of nonprotein intake retained nitrogen at intrauterine rates (282 +/- 7 mg/kg/day). Diet had no effect on Q, synthesis, or B. However, the protein source had a significant effect (p less than 0.01) on the fraction of N-flux coming from protein breakdown (B/Q); 71.7% for Vamin, cf. 77.1% for Amigen. Similarly, energy intake had a significant effect (p less than 0.01) on the fraction N-flux utilized for protein synthesis (S/Q); 91.3% high energy cf. 87.0% low energy. These results suggest that an increased energy intake improved N-retention by enhancing amino acid reutilization for protein synthesis, whereas a higher quality protein improved N-retention by limiting protein breakdown..3% high energy cf. 87.0% low energy. These results suggest that an increased energy intake improved N-retention by enhancing amino acid reutilization for protein synthesis, whereas a higher quality protein improved N-retention by limiting protein breakdown..3% high energy cf. 87.0% low energy. These results suggest that an increased energy intake improved N-retention by enhancing amino acid reutilization for protein synthesis, whereas a higher quality protein improved N-retention by limiting protein breakdown.

Enhanced detection of vesicoureteral reflux in infants and children with use of cyclic voiding cystourethrography.

Abstract: Cyclic voiding cystourethrography (VCUG) was prospectively evaluated to determine its ability to demonstrate vesicoureteral reflux (VUR) in children whose VCUG results were initially negative. The authors also assessed the effect of change in the patient's position on the detection of VUR. Seventy-seven children younger than 3 years of age, with negative results from a VCUG study performed while they were supine, underwent a second cycle of bladder filling after they were placed prone (group 1). Sixty-five children who were also younger than 3 years of age and had negative results from an initial VCUG examination performed in the usual supine position underwent a second cycle of bladder filling, which was also performed with the patient supine (group 2). VUR occurred in three children (4%) in group 1 and in eight (12%) in group 2. Most children (68.8%) in the two groups combined had grade II reflux. Cyclic VCUG increased detection of VUR, which led to a change in clinical treatment. Prone positioning did ...