Results 51 to 60 of about 41,503 (238)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Successful Pregnancy Outcome In Maternal Crigler Najjar Syndrome Type II. [PDF]

, 2012
Estimated incidence of Crigler-Najjar syndrome(CNS) is 1 case per 1,000,000 births(1 million). The overall prevalence of CN syndrome is unknown, with only several hundred people reported to have this disease.
Padmalatha, VV, Poornima, M, Rao, SR, Shakuntala, PN   +3 more
core  

Unveiling Hepatic Protein Alterations in Neonatal and Infant Biliary Atresia

Clinical Pharmacology &Therapeutics, EarlyView.
Pediatric populations differ from adults in drug elimination capacity. While current scaling methods account for enzyme and transporter maturation, they overlook comorbidities, such as biliary atresia (BA), a liver disease appearing within the first 2–8 weeks of life that can progress to cirrhosis.
Zubida M. Al‐Majdoub, Martyn Howard, Brahim Achour, Jill Barber, Naved Alizai, Amin Rostami‐Hodjegan   +5 more
wiley   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

Correlation between Hemolysis and Jaundice in Glucose 6-Phosphate Dehydrogenase Deficient Neonates [PDF]

Acta Medica Iranica, 2009
Glucose 6-phosphate dehydrogenase (G6PD) deficiency is an enzyme deficiency of the red blood cells and the most important disease of hexose monophosphate pathway. The role of hemolysis in the pathophysiology of neonatal jaundice due to G6PD deficiency is
Asghar Marzban, Noredien Mosavinasab
doaj   +1 more source

Phytochemicals and Health Benefits of American Ginseng (Panax quinquefolius L.): Current Knowledge and Future Perspectives

Food Safety and Health, EarlyView.
This review summarizes the chemical constituents and functional characteristics of American ginseng, aiming to provide references for its development and application. ABSTRACT American ginseng, a perennial herbaceous plant, is recognized for its significant medicinal properties and has attracted considerable attention due to its diverse phytochemical ...
Wei Geng, Ning Zhou, Jinqian Yu, Yanling Geng, Xiao Wang, Yannan Chen   +5 more
wiley   +1 more source

Prevalence and Associated Factors of Jaundice Among Neonates Admitted to Neonatal Intensive Care Units at Public Specialized Hospitals in Bahir Dar City, Northwest Ethiopia

Global Pediatric Health
Background . Neonatal jaundice is more common and complicated in low and middle-income countries. However, there is no adequate evidences on the prevalence of neonatal jaundice and associated factors in Ethiopia. Methods .
Amare Molla Zelelew MSc, Tesfahun Zemene Tafere MPH, Senetsehuf Melkamu Jemberie MSc, Getaneh Mulualem Belay MSc   +3 more
doaj   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source

Obstetrical outcomes in pregnant patients following a gluten‐free diet: A prospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Concerns have been raised about the nutritional adequacy of a gluten‐free (GF) diet during pregnancy, specifically in the absence of celiac disease, and its impact on fetal development. The objective of this study was to investigate the association between a GF diet during pregnancy and obstetrical outcomes, with further sensitivity ...
Amelia Srajer, Meghan Harris, Jessry Santos, Jessica Dalere, James A. King, Janice C. Skiffington, Donna Slater, Lara Leijser, Amy Metcalfe   +8 more
wiley   +1 more source

RISIKO GANGGUAN PENDENGARAN PADA NEONATUS HIPERBILIRUBINEMIA [PDF]

, 2010
Background. The prevalence of hearing impairment on the Indonesian population according to 2007 WHO data is estimated at 4.2 %, and one of the cause is neonatal hyperbilirubinemia.
Susanto, Susanto
core