Children's Memorial Hospital

About: Children's Memorial Hospital is a based out in . It is known for research contribution in the topics: Population & Transplantation. The organization has 5652 authors who have published 8967 publications receiving 283837 citations.

The prognostic value and significance of serial bone scintigraphy in Legg-Calvé-Perthes disease.

Abstract: We reviewed 44 consecutive patients treated for Legg-Calve-Perthes disease who underwent serial technetium 99m diphosphonate bone scintigraphy. The average follow-up was 4.4 years. The bone-scintigraphy classification characterizes the A pathway by early lateral column formation not seen in the B pathway. Pathway A had 20 hips. The average age at presentation was 6.1 years. At last follow-up, this group had an average Mose classification of 1.2 and Catterall score of 2.4, without any patient having "head-at-risk" signs or requiring operative treatment. Pathway B had 20 hips. The average age at presentation was 5.8 years. At last follow-up, this group had an average Mose classification of 5.2, a Catterall score of 3.5, and 18 patients had head-at-risk signs, with 11 requiring operative treatment. Our bone-scintigraphy classification preceded the radiographic head-at-risk signs by an average of 3 months, allowing earlier treatment and correlated with subsequent femoral head involvement.

Heritability and Environmental Factors Affecting Vitamin D Status in Rural Chinese Adolescent Twins

Abstract: Context: Factors associated with the high prevalence of vitamin D deficiency in China are not well described, especially among Chinese adolescents. Objectives: The aim of the study was to examine important environmental or sociodemographic factors influencing 25-hydroxyvitamin D [25(OH)D] levels and estimate its heritability. Design: A sample of 226 male and female adolescent twins aged 13–20 yr from a large prospective twin cohort of rural Chinese children and adolescents that has been followed for 6 yr were evaluated. Main Outcome Measure(s): Blood level of 25(OH)D was measured using tandem mass spectrometry methodology. Results: The overall mean (sd) 25(OH)D level was 18.0 (9.4) ng/ml, with wide variation by gender and season. In males (47.4% of subjects), the mean (sd) 25(OH)D level was 12.1 (4.2) ng/ml in non-summer and 27.4 (8.8) ng/ml in summer; in females, it was 10.1 (4.1) ng/ml in non-summer and 19.5 (6.3) ng/ml in summer. A multivariate model that included gender, age, season, physical activity, and student status demonstrated that male gender, summer season, and high physical activity significantly increased 25(OH)D levels. Summer season and male gender also significantly decreased the risk of being in the lowest 25(OH)D tertile. Overall, 68.9% of the variability in 25(OH)D level was attributable to additive genetic influence. Stratification by gender found that in males, 85.9% of the variability in 25(OH)D level was attributable to such influence, but in females, it was only 17%. Conclusion: In this sample of rural Chinese adolescents, 25(OH)D level was influenced by gender, season, and physical activity level. There was a strong genetic influence on 25(OH)D level in males only.

Parental Views on Withdrawing Life-Sustaining Therapies in Critically Ill Children

Abstract: Objective To broaden existing knowledge of pediatric end-of-life decision making by exploring factors described by parents of patients in the pediatric intensive care unit (PICU) as important/influential if they were to consider withdrawing life-sustaining therapies. Design Quantitative and qualitative analysis of semi-structured one-on-one interviews. Setting The PICUs at 2 tertiary care hospitals. Participants English- or Spanish-speaking parents who were older than 17 years and whose child was admitted to the PICU for more than 24 hours to up to 1 week. Intervention Semi-structured one-on-one interviews. Results Forty of 70 parents (57%) interviewed said they could imagine a situation in which they would consider withdrawing life-sustaining therapies. When asked if specific factors might influence their decision making, 64% of parents said they would consider withdrawing life-sustaining therapies if their child were suffering; 51% would make such a decision based on quality-of-life considerations; 43% acknowledged the influence of physician-estimated prognosis in their decision; and 7% said financial burden would affect their consideration. Qualitative analysis of their subsequent comments identified 9 factors influential to parents when considering withdrawing life-sustaining therapies: quality of life, suffering, ineffective treatments, faith, time, financial considerations, general rejection of withdrawing life-sustaining therapies, mistrust/doubt toward physicians, and reliance on self/intuition. Conclusion Parents describe a broad range of views regarding possible consideration of withdrawing life-sustaining therapies for their children and what factors might influence such a decision.

N -carbamylglutamate Markedly Enhances Ureagenesis in N -acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

Abstract: N-acetylglutamate (NAG) is an endogenous essential cofactor for conversion of ammonia to urea in the liver. Deficiency of NAG causes hyperammonemia and occurs because of inherited deficiency of its producing enzyme, NAG synthase (NAGS), or interference with its function by short fatty acid derivatives. N-carbamylglutamate (NCG) can ameliorate hyperammonemia from NAGS deficiency and propionic and methylmalonic acidemia. We developed a stable isotope 13C tracer method to measure ureagenesis and to evaluate the effect of NCG in humans. Seventeen healthy adults were investigated for the incorporation of 13C label into urea. [13C]urea appeared in the blood within minutes, reaching maximum by 100 min, whereas breath 13CO2 reached a maximum by 60 min. A patient with NAGS deficiency showed very little urea labeling before treatment with NCG and normal labeling thereafter. Correspondingly, plasma levels of ammonia and glutamine decreased markedly and urea tripled after NCG treatment. Similarly, in a patient with propionic acidemia, NCG treatment resulted in a marked increase in urea labeling and decrease in glutamine, alanine, and glycine. These results provide a reliable method for measuring the effect of NCG on nitrogen metabolism and strongly suggest that NCG could be an effective treatment for inherited and secondary NAGS deficiency.