Results 51 to 60 of about 20,090 (215)

Associations between UGT1A1 and SLCO1B1 polymorphisms and susceptibility to neonatal hyperbilirubinemia in Thai population

BMC Pediatrics, 2022
Hyperbilirubinemia is the main mechanism that causes neonatal jaundice, and genetics is one of the risk factors of hyperbilirubinemia. Therefore, this study aims to explore the correlation between two genes, UGT1A1 and SLCO1B1, and hyperbilirubinemia in ...
Chalirmporn Atasilp, Janjira Kanjanapipak, Jaratdao Vichayaprasertkul, Pimonpan Jinda, Rawiporn Tiyasirichokchai, Pornpen Srisawasdi, Chatchay Prempunpong, Monpat Chamnanphon, Apichaya Puangpetch, Natchaya Vanwong, Suwit Klongthalay, Thawinee Jantararoungtong, Chonlaphat Sukasem   +12 more
doaj   +1 more source

Evidence for the benefit of prenatal pelvimetry in breech presentation at term: A low intertuberous distance is associated with assisted head delivery and short‐term neonatal morbidity

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Guidelines on vaginal breech delivery have several restrictions concerning feto‐maternal parameters. To date, they neglect the impact of prenatal pelvimetry, especially of the intertuberous distance (ITD), in nulliparous women attempting vaginal breech birth.
Julia Schmidt, Anna Elisabeth Hentrich, Anne Kristina Kämpf, Eileen Deuster, Samira Catharina Hoock, Frank Louwen, Lukas Jennewein   +6 more
wiley   +1 more source

Evaluation of serum brain-derived neurotrophic factor levels in preterm and term neonates and its association with hyperbilirubinemia [PDF]

Journal of Krishna Institute of Medical Sciences University, 2022
Background: Neonatal hyperbilirubinemia is the most common cause of hospital admission in the first month of life. Maternal, neonatal, and prenatal factors affect the severity of neonatal hyperbilirubinemia.
Jayashree R, Reshma K , Suchetha SR, Ramlingareddy, Sudha K , Vasavi K   +5 more
doaj  

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Development of icterus gravis in a preterm infant with G71R UGT1A1 polymorphism [PDF]

, 2013
BACKGROUND: Uridine diphosphate-glucuronosyltransferase (UGT) gene family is involved in the detoxification of biomaterials and drugs in the liver. Among the UGT gene family members, only UGT1A1 is involved in bilirubin conjugation.
Akimune Kaga, Haruo Usuda, Muneyuki Tanabu, Sachiko Saito, Shigeo Kure, Susumu Kanda, Takuma Matsuki, Yohei Watanabe, Yukimune Ohkubo, Yutaka Suzuki   +9 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Gestational Diabetes Mellitus and Adverse Maternal and Neonatal Health Outcomes: an Umbrella review of Meta‐Analyses

Obesity Reviews, EarlyView.
ABSTRACT Introduction This study systematically synthesized evidence on adverse health outcomes related to gestational diabetes mellitus (GDM) via an umbrella review with integrated meta‐analyses. Methods The search covered publications from the database (PubMed/MEDLINE, Google Scholar, Embase, and CINAHL) inception to August 12, 2024. Meta‐analyses of
Jiseung Kang, Hyeon Jin Kim, Yeona Jo, Kathryn J. Smith, Arianna R. S. Lark, Fayaz A. Mir, Jaeyu Park, Hayeon Lee, Yumin Kim, Masoud Rahmati, Lee Smith, Sang Youl Rhee, Yejun Son, Dong Keon Yon, Christa J. Nehs   +14 more
wiley   +1 more source

Défice de glicose-6-fosfato desidrogenase, ictericia neonatal e sindroma de Gilbert.

Acta Médica Portuguesa, 2002
The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns.
Elísio Costa, Emilia Vieira, Esmeralda Cleto, José M Cabeda, Luciana Pinho, Eduarda Coimbra, Rosário Dos Santos, José Barbot   +7 more
doaj   +1 more source

Impaired angiogenesis in gestational diabetes is linked to succinate/SUCNR1 axis dysregulation in late gestation

The Journal of Physiology, EarlyView.
Abstract figure legend Gestational Diabetes Mellitus (GDM) impacts on succinate metabolism and angiogenesis in the umbilical cord endothelium. (Left Panel) Succinate levels increase in both maternal and fetal circulation at delivery, with higher concentrations observed in GDM pregnancies compared to controls during late gestation.
Sergiy Klid, Francisco Algaba‐Chueca, Elsa Maymó‐Masip, Mónica Ballesteros, Montse Inglés, Albert Guarque, Nerea Vilanova‐Ricart, Ariadna Prats, Azra Kulovic‐Sissawo, Elisa Weiss, Ursula Hiden, Joan Vendrell, Sonia Fernández‐Veledo, Ana Megía   +13 more
wiley   +1 more source