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Hypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.
View Article and Find Full Text PDFEconomic Evaluations of Music Therapy and Other Music-Based Interventions: A Scoping Review.
J Music Ther
January 2025
Department of Communication and Psychology, Aalborg University, 9220, Denmark.
The cost-effectiveness of an intervention is an important factor in health care decisions about which health care services should be publicly funded and/or approved as an eligible intervention for private insurance coverage. Music therapy as a health profession lacks substantial research on the cost-effectiveness of its services and there is no overview of existing data. We therefore conducted a scoping review.
View Article and Find Full Text PDFSignificance of northwest axis on neonatal electrocardiograms.
Cardiol Young
January 2025
Division of Cardiology, Children's Hospital at Montefiore, Bronx, NY, USA.
Purpose: Northwest axis on an electrocardiogram is conventionally thought to be associated with CHD, but there is a paucity of data regarding the types and incidence of CHD associated with this finding. The purpose of this study was to report the types and incidence of CHD found at our institution to determine the efficacy of electrocardiograms as a screening test in infants.
Methods: Retrospective, single-centre study of all infants ≤ 60 days of age who underwent a first-time electrocardiogram from 2015 to 2021.
Improving ROP management: insights from a comparative analysis of screening and treatment modalities in a tertiary hospital, Pakistan.
BMC Ophthalmol
January 2025
Institute of Ophthalmolohy, King Edward Medical University, Lahore, Pakistan.
Background: The principal objective of our study is to evaluate the characteristics of babies with type 1 ROP, screening practices and treatment trends in a tertiary care centre in Pakistan.
Methods: This prospective study at Mayo Hospital, Lahore (July 2022-July 2024), included 89 preterm infants with type 1 ROP, selected using non-probability sampling. Infants were categorized based on international (GA < 32weeks or BW < 1500 g) and local screening criteria (GA < 35 weeks or BW < 2000 g), and treatment outcomes were evaluated across three groups: Anti-VEGF, combination therapy (Anti-VEGF followed by laser), and laser therapy.
The impact of ACOG's 39-week rule on fetal death rates in the United States: A systematic review.
Eur J Obstet Gynecol Reprod Biol
January 2025
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology NYU Grossman School of Medicine New York NY United States; NYU Langone Health New York NY United States. Electronic address:
Objective: The "39-week rule," implemented in August 2009, strongly discouraged early term deliveries before 39 weeks without accepted ACOG delivery indications. In this study, we evaluated fetal death rates before and after the 39-week rule in the United States (US) by review of published series.
Study Design: Systematic literature searches were performed in PubMed, Cochrane Central Register of Controlled Trials, Embase, Cumulative Index to Nursing and Allied Health Literature, Web of Science, and Scopus databases (January 2009-June 2023).
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