DIAGNOSTIC YIELD OF TRIO WHOLE-GENOME SEQUENCING IN CHILDREN WITH UNDIAGNOSED DEVELOPMENTAL DELAY OR CONGENITAL ANOMALY: A PROSPECTIVE COHORT STUDY

Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study

Developmental delays (DD) and congenital anomalies (CA) are prevalent yet often remain undiagnosed despite comprehensive genetic testing.This study aims to investigate the diagnostic yield of trio whole-genome sequencing (WGS) in children presenting with DD or CA who remained undiagnosed after previous genetic testing.A prospective cohort study was

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Hypo-Osmotic Swelling Test and Male Factor

For over 30 years, defects of the functional integrity of the sperm membrane, as evidenced by a low hypo-osmotic swelling test when evaluating the semen analysis, are not only associated with male infertility (even with sperm that otherwise seem normal), but unless corrected, successful intrauterine pregnancies will rarely ensue.This defect, intere

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A dashboard for monitoring preventive measures in response to COVID-19 outbreak in the Democratic Republic of Congo

Abstract Background In most health areas, an information system is necessary for an effective fight against COVID-19.Current methods for surveillance of diseases with epidemic potential do not include monitoring the adherence to preventive measures.Furthermore, modern data collection methods depend often on technologies (e.g., cameras or drones) th

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Evaluation of the probiotic and postbiotic potential of lactic acid bacteria from artisanal dairy products against pathogens

Introduction: Probiotic and postbiotic potential of thirty-two strains of lactic acid bacteria (LAB), obtained earlier from artisanal dairy sources in Pakistan, have been investigated against major multi-drug resistant (MDR) and food borne pathogenic bacteria.Methodology: LAB strains were identified by 16S rRNA gene sequencing and their antibacteri

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