Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*

OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and trio-rapid genome sequencing (proband and biological parents). The study occurred between April 2019 and December 2019. SETTING: Thirteen member hospitals of the China Neonatal Genomes Project spanning 10 provinces were involved. PARTICIPANTS: Critically ill infants (n = 202), from birth up until 13 months of life were enrolled based on eligibility criteria (e.g., CNS anomaly, complex congenital heart disease, evidence of metabolic disease, recurrent severe infection, suspected immune deficiency, and multiple malformations). INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Of the 202 participants, neuromuscular (45%), respiratory (22%), and immunologic/infectious (18%) were the most commonly observed phenotypes. The diagnostic yield of trio-rapid genome sequencing was higher than that of proband-only clinical exome sequencing (36.6% [95% CI, 30.1–43.7%] vs 20.3% [95% CI, 15.1–26.6%], respectively; p = 0.0004), and the average turnaround time for trio-rapid genome sequencing (median: 7 d) was faster than that of proband-only clinical exome sequencing (median: 20 d) (p
Source: Critical Care Medicine - Category: Emergency Medicine Tags: Feature Articles Source Type: research

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Source: Yale Science and Health News - Category: Universities & Medical Training Source Type: news
CMAJ Open. 2021 Oct 19;9(4):E948-E956. doi: 10.9778/cmajo.20200219. Print 2021 Oct-Dec.ABSTRACTBACKGROUND: Respiratory syncytial virus (RSV) infection poses a substantial clinical burden among infants and young children. We sought to determine the health care costs of hospitalizations attributable to RSV in Ontario, Canada, from the health care payer perspective.METHODS: For this population-based matched cohort study, we identified children younger than 24 months who were or were not hospitalized with RSV infections in 2006-2016. We performed a cost-of-illness analysis using linked administrative health data, with subjects...
Source: cmaj - Category: General Medicine Authors: Source Type: research
AbstractIntroductionCardiovascular diseases are the leading cause of death worldwide and in Tunisia. In fact, as a result of progressive urbanization and westernization of lifestyle the spectrum and pattern of cardiovascular diseases CVD along with their risk factors are changing. The aim of this study was to describe the epidemiological profile of CVD hospitalizations, to evaluate their chronological trends and to estimate their future projected trends.MethodsWe retrospectively collected data from the regional morbidity registry of the University Hospital of Sfax, Tunisia, between 2003 and 2016. We included patients with ...
Source: The European Journal of Public Health - Category: General Medicine Source Type: research
This study aims to estimate the incidence of cardiovascular outcomes and all cause mortality and determines their association with the anthropometric measurements.MethodsThe data from Turkey Chronic Diseases and Risk Factors Survey were used for the cohort which recruited two 15 years and older adults from each family physicians' list in 2011 in Turkey using simple random sampling (n = 18,477). Family physicians collected the medical history and performed anthropometric measurements. Initially healthy participants for cardiovascular morbidity (coronary heart disease (ICD-10 codes I20.0-I25.0) and stroke (ICD-10 codes I60.0...
Source: The European Journal of Public Health - Category: General Medicine Source Type: research
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Source: The European Journal of Public Health - Category: General Medicine Source Type: research
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Source: The European Journal of Public Health - Category: General Medicine Source Type: research
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Source: The European Journal of Public Health - Category: General Medicine Source Type: research
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Source: The European Journal of Public Health - Category: General Medicine Source Type: research
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Source: The European Journal of Public Health - Category: General Medicine Source Type: research
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