Results 51 to 60 of about 66,582 (323)

Progeny, June 2013, Vol 29, no.1 [PDF]

, 2013
This newsletter from The Department of Public Health about perinatal health care and ...

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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 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
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Acute Jaundice in a Six-year-old: An Unusual Presentation of Atypical Kawasaki Disease [PDF]

, 2020
Kawasaki disease (KD) is a rare vasculitis of childhood that is critical to recognize and treat due to associated morbidity and mortality. A six-year-old male presented to our emergency department (ED) afebrile but with reported recent fevers.
Bylund, LCDR William, Morrison Ponce, LCDR Daphne, Zarow, Gregory J.   +2 more
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Extracorporeal membrane oxygenation with multiple-organ failure: Can molecular adsorbent recirculating system therapy improve survival? [PDF]

, 2017
BACKGROUND: Liver dialysis, molecular adsorbent recirculating system (MARS) particularly, has been used in liver failure to bridge to transplantation.
Cavarocchi, Nicholas C., Hirose, Hitoshi, Sparks, Bailey E.   +2 more
core   +2 more sources

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex. [PDF]

, 2008
Rhesus D incompatibility increases risk for schizophrenia, with some evidence that risk is limited to male offspring. The purpose of this study is to determine whether risk for schizophrenia due to Rhesus D incompatibility differs by offspring sex using ...
Hsieh, Hsin-Ju, Lonnqvist, Jouko, Mallery, Erin, Palmer, Christina GS, Peltonen, Leena, Sinsheimer, Janet S, Turunen, Joni A, Woodward, J Arthur   +7 more
core   +1 more source

Validation of transcutaneous bilirubin nomogram for identifying neonatal hyperbilirubinemia in healthy Chinese term and late-preterm infants: a multicenter study

Jornal de Pediatria, 2014
OBJECTIVE: to prospectively validate a previously constructed transcutaneous bilirubin (TcB) nomogram for identifying severe hyperbilirubinemia in healthy Chinese term and late-preterm infants.
Zhangbin Yu, Shuping Han, Jinxia Wu, Mingxia Li, Huaiyan Wang, Jimei Wang, Jiebo Liu, Xinnian Pan, Jie Yang, Chao Chen   +9 more
doaj   +3 more sources

Early Predictors of Hyperbilirubinemia in Full Term Newborn [PDF]

Perspectives In Medical Research, 2022
Introduction: Predictive markers enabling Pediatricians to identify which neonates will develop jaundice have mandatory for prevention of severe hyperbilirubinemia.
doaj   +1 more source

Inhibition of OATP1B1/3 Rather Than UGT1A1 May Be the Major Cause of the Bilirubin Elevation After Atazanavir Administration

Clinical Pharmacology &Therapeutics, EarlyView.
Atazanavir has been reported to increase total serum bilirubin level up to ninefold. It is widely believed that the observed total bilirubin elevation is primarily due to UGT1A1 inhibition. However, UGT enzymes are well‐known as a low‐affinity and high‐capacity system, and the observed drug–drug interaction mediated by UGTs is usually less than twofold.
Jin Dong, Pradeep Sharma, Rasha Emara, Derek Cheung, Weifeng Tang, Diansong Zhou, David W. Boulton, Mats Någård, Miki S. Park   +8 more
wiley   +1 more source