Background: A staggering 99% of infant undernutrition mortality comes from Sub-Saharan Africa and South Asia. Despite multiple interventions focusing on nutrition adequacy, 2.7 million children worldwide remain associated with undernutrition-related mortality.
View Article and Find Full Text PDFObjectives: Diagnosing rare diseases is an arduous and challenging process in clinical settings, resulting in the late discovery of novel variants and referral loops. To help clinicians, we built IDeRare pipelines to accelerate phenotype-genotype analysis for patients with suspected rare diseases.
Materials And Methods: IDeRare pipeline is separated into phenotype and genotype parts.
A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner's stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad.
View Article and Find Full Text PDFObjectives: Indonesia is the fifth country with the highest number of preterm births worldwide. More than a third of neonatal deaths in Indonesia were attributed to preterm birth. Residential areas affected the occurrence of preterm birth due to differing socioeconomic and environmental conditions.
View Article and Find Full Text PDFGenetics and genomic medicine in Indonesia.
View Article and Find Full Text PDF