6 research outputs found
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Most Frequently Encountered Inborn Errors of Metabolism
No full textInborn errors of metabolism are inherited conditions that block metabolic pathways. Despite major advances in our ability to diagnose these conditions, difficulties remain. Many conditions manifest before the results of the first newborn screening tests become available. Many newborn screening tests are not diagnostic, and further evaluation is needed. Newer variants of these conditions are constantly being identified, and there is a need to educate care providers to evaluate infants who may need referral and more extensive testing. Early initiation of medical care is critical to prevent or reduce significant morbidity and mortality
Romance portrayed in Sophie Kinsella's finding Audrey Novel
Get PDFThis research aims to describe the relationship between Audrey and Linus relationship using John G. Cawelti formula theory. The study shows that author use pamela formula to describe the story plot
Acquired Zinc Deficiency in Preterm Infant Post-Surgery for Necrotizing Enterocolitis (NEC) on Prolonged Total Parenteral Nutrition (TPN)
No full textZinc (Zn) is a vital trace element that plays a pivotal role in protein synthesis, cellular growth, and differentiation and is involved as a cofactor of metalloenzymes, performing a wide variety of metabolic, immune, and synthesis roles. Zn is required at all stages of an infant’s and child’s development, and severe Zn deficiency has been reported to lead to slower physical, cognitive, and sexual growth. Preterm neonates are at a higher risk of developing zinc deficiency for a variety of reasons, including low Zn intake from enteral feeds containing breast milk, relative malabsorption due to immaturity of the gastrointestinal tract with limited absorptive capacity, increased urinary loss of zinc, and increased demand during the early developmental stages. Moreover, premature infants are at risk of gastrointestinal diseases like necrotizing enterocolitis (NEC), which can limit absorption capacity and potentially lead to malabsorption. TPN is frequently used in preterm infants to provide them with sufficient nutrients and calories. However, it has its own complications, including cholestasis, especially if used for prolonged periods. In this case report, we are presenting the case of a male preterm infant who was delivered by caesarean section at 26 weeks’ gestation. The baby developed an intestinal perforation due to NEC, for which he underwent surgery for resection of the necrotic bowel and the creation of a high ileal stoma and was put on prolonged total parenteral nutrition (TPN), which led to the development of zinc deficiency
Author Correction: Predictive analytics of complex healthcare systems using deep learning based disease diagnosis model
No full textKabuki Syndrome with Chiari malformation type II: A case report
Get PDFKabuki syndrome is a rare genetic disorder, characterized by typical facial features, hypotonia, developmental delay and intellectual disabilities. We report here a Saudi female infant diagnosed as a case of Kabuki syndrome clinically and confirmed by molecular genetic testing. She was admitted at birth to neonatal ICU due to hydrocephalus and meningomyelocele and found to have Chiari malformation type II on radiological evaluation of the brain. Whole exome sequencing (WES) was sent for her and showed pathogenic variant in KDM6A which confirm the diagnosis of Kabuki syndrome
