Results 151 to 160 of about 41,665 (231)

Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome

Case Reports in Cardiology, Volume 2026, Issue 1, 2026.
Alagille syndrome is a rare multisystemic genetic condition most commonly associated with neonatal liver disease. Variable expressivity is a defining feature of Alagille syndrome, resulting in a broad spectrum of phenotypic variation among individuals who meet the diagnostic criteria. We present an atypical case of cardiac‐predominant Alagille syndrome
Matthew K. Campbell, Jessica Hallam, Samuel L. Casella, Sangeeta Shah, Kathleen Ngu   +4 more
wiley   +1 more source

Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association study. [PDF]

PLoS One
Chen X, Du P, Li S, Wang X, Xu M, Chu Z, Zhang Y, Yao Z, Huan X, Huang Y, Fang M, Gao Y, Fan G, Jin X, Huang H, Pan S.   +15 more
europepmc   +1 more source

Neonatal‐Onset Chronic Granulomatous Disease Presenting With Recurrent Culture‐Negative Meningitis: A Case Report and Diagnostic Considerations

Case Reports in Immunology, Volume 2026, Issue 1, 2026.
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocyte oxidative burst and may present in early life with severe or recurrent infections. We report a female infant born at 38 weeks’ gestation (birth weight 2700 g) who developed fever and presumed sepsis at 5 days of life, followed by multiple recurrent ...
Anwar Abu Hetta, Rayyan G. Shakarnah, Khalil R. Salah, Jasem Y. Hroub, Abdallah N. Khatib, Amjad H. Rabei, Xingliang Dai   +6 more
wiley   +1 more source

Incidence and risk factors for neonatal jaundice in a teaching hospital in Northern Ghana. [PDF]

BMC Pediatr
Donkor DR, Ziblim SD, Asumah MN, Dzantor EK, Abdul-Mumin A.   +4 more
europepmc   +1 more source

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions

Human Mutation, Volume 2026, Issue 1, 2026.
Information on the health‐related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations involving chromosome 6 by providing parents of affected children with information on the expected phenotypes of their ...
Eleana Rraku, Tyler D. Medina, Conny M. A. van Ravenswaaij-Arts, Mariska K. Slofstra, Morris A. Swertz, Trijnie Dijkhuizen, Lennart F. Johansson, Aafke Engwerda, Priya Gusain   +8 more
wiley   +1 more source

Clinical superiority of artificial intelligence-enabled jaundice monitoring follow-up combined with end-tidal carbon monoxide measurement in neonatal jaundice management. [PDF]

Am J Transl Res
Kang MM, Li K, Zhang XL, Zhang JW.
europepmc   +1 more source

Associations Between Prepregnancy Menstrual Characteristics, Age at Menarche, and the Risk of Gestational Diabetes Mellitus: A Matched Case–Control Study

Journal of Diabetes Research, Volume 2026, Issue 1, 2026.
Background Inconsistencies exist in the literature regarding the associations among age at menarche (AAM), prepregnancy menstrual characteristics, and the risk of gestational diabetes mellitus (GDM). These discrepancies may be attributable to variations in population demographics.
Yushuang Su, Qin Yang, Cui Xing, Hui Wang, Rong Li, Juan Zhang, Jie Mei, Jing He, Eleonore Fröhlich   +8 more
wiley   +1 more source

Neonatal Hyperbilirubinemia in Uganda: Mechanisms, Clinical Consequences, and Health-System Challenges. [PDF]

Pediatric Health Med Ther
Hamdi MY, Nankunda J, Hassan HA, Said ZA, Mohamud AH, Kahie FD, Abdulla AM, Moalim JA, Moalim MA, Elfakey WEM.   +9 more
europepmc   +1 more source

Characteristics of Pregnancy Course in an Infant With Cerebral Palsy Showing Decreased Fetal Movement

Obstetrics and Gynecology International, Volume 2026, Issue 1, 2026.
Objective To clarify the characteristics of patients with cerebral palsy (CP) showing decreased fetal movement (DFM). Methods Among patients with CP between January 2009 and February 2021, we collected cases of DFM from the causal analysis report. We retrieved the clinical course and the causes of CP. Results Of 2834 cases of CP, 225 (8%) patients were
Shiho Nagayama, Hironori Takahashi, Hanako Ohtachi, Manabu Ogoyama, Rie Usui, Hirotada Suzuki, Yoshio Matsuda, Hiroyuki Fujiwara, Babatunde Gbolade   +8 more
wiley   +1 more source

Factors influencing jaundice follow-up rates in a multi-ethnic Asian population: a cross-sectional study. [PDF]

BMJ Paediatr Open
Koh SWC, Teng ASW, Ho ERQ, Goh JC, Low SH, Bauchner H.   +5 more
europepmc   +1 more source