Results 101 to 110 of about 41,665 (231)

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Quality of Neonatal Health Care: Learning From Health Workers’ Experiences in Critical Care in Kilimanjaro Region, Northeast Tanzania [PDF]

, 2013
Neonatal deaths are generally attributed to suboptimal standards of health care. Health care worker motivation and adherence to existing guidelines are rarely studied.
Ide, Nicole L, Manongi, Rachael, Mbwele, Bernard, Melnick, Joshua A, Mrema, John G, Ward, Sarah AP   +5 more
core   +1 more source

Seroprevalence of equine leptospirosis in Poland (2019–2023)

Equine Veterinary Journal, EarlyView.
Abstract Background Leptospirosis in horses is associated with various clinical signs, potentially leading to fatal outcomes. Additionally, the disease may pose a zoonotic risk to individuals involved in handling infected animals. Implementing a serological monitoring programme in the equine population is one of the key tools used to reduce the risk of
Jacek Żmudzki, Monika Ostrowska, Zbigniew Arent, Maciej Frant, Maciej Kochanowski, Agnieszka Nowak, Sylwia Zębek, Damian Kalinowski, Katarzyna Podgórska   +8 more
wiley   +1 more source

Bilirubin - Uridine Diphosphate Glucuronosyltransferase (Ugt1a1) Gene Mutations Among Newborn Babies In The Malay Population In Kelantan With Hyperbilirubinaemia [PDF]

, 2005
Sind rom Gilbert berpunca daripada keabnormalan pada gen uridine diphosphate-glucuronosyltransferase 1A 1 (UGT1A 1) yang disebabkan oleh mutasi. Mutasi-mutasi ini berbeza bagi setiap populasi dan kebanyakannya menjadi faktor asas bagi jaundis di ...
Yusoff, Surini
core  

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Neonatal jaundice and its association with sepsis, birth trauma, and prolonged labor in Ethiopia: A systematic review and meta-analysis

International Journal of Africa Nursing Sciences
Background: No comprehensive nationwide evidence exists regarding neonatal jaundice in Ethiopia. Hence, this study aimed to determine the pooled prevalence of neonatal jaundice and explore its relationship with sepsis, birth trauma, and prolonged labor ...
Bezawit Adane, Melaku Yalew, Elsabeth Addisu, Mastewal Arefaynie, Kefale Mitiku, Yitbarek Wasihun, Tilahun Degu Tsega, Mahider Awoke, Tezera Asfaw, Bereket Kefale, Yitayish Damtie, Natnael Kebede   +11 more
doaj   +1 more source

The Double‐Edged Sword of Gestational Insulin Resistance: Navigating Maternal Adaptation and Its Risks for Pregnancy and Offspring Health

Obesity Reviews, EarlyView.
ABSTRACT Although much research focuses on the effects of hyperglycemia during pregnancy on maternal and offspring health, this narrative review specifically centers on the role of insulin resistance (IR) in pregnancy complications and offspring long‐term health.
Runyu Du, Fei Wang, Ling Li, Qiuyue Wang
wiley   +1 more source

Local Anesthetics in Cancer: Mechanisms and Translational Perspectives

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Local anesthetics demonstrate multifaceted antitumor effects that collectively contribute to cancer suppression. Beyond canonical sodium channel blockade, these agents exert the following pharmacological actions: inhibition of tumor cell proliferation, suppression of migration and invasion, induction of proapoptotic pathways, attenuation of ...
Wan‐li Wang, Tu Huang, Yi‐hang Hao, Min Zheng, Xin‐hua Liang   +4 more
wiley   +1 more source

Timing Routines With Patience: A Focused Ethnography on Newborn Breastfeeding in Hospitals

Maternal &Child Nutrition, Volume 22, Issue 1, March 2026.
ABSTRACT Breastfeeding positively impacts the lifelong health of women and infants. The World Health Organization (WHO) aims to increase exclusive breastfeeding rates for the first six months from 44% to 70% by 2030, making breastfeeding support crucial.
Annemi Lyng Frandsen, Maren Johanne Heilskov Rytter, Helle Haslund‐Thomsen, Lotte Broberg, Michaela Schiøtz, Malene Beck   +5 more
wiley   +1 more source

Parental Consent to a Neonatal Clinical Study: The Roles of Uncertainty, Burden of Sample Collection and Societal Expectations

Acta Paediatrica, Volume 115, Issue 2, Page 353-359, February 2026.
ABSTRACT Aim Recruiting participants for neonatal clinical studies may be challenging because parental consent is required shortly after birth. This study aimed to explore reasons for parental decline of participation in a neonatal study. Method This qualitative sub‐study was conducted in the Capital Region of Denmark between June 2022 and April 2023 ...
Susanne Soendergaard Kappel, Gustav Riemer Jakobsen, Kija Lin Oestergaard, Anders Brunse, Dennis Sandris Nielsen, Lise Aunsholt   +5 more
wiley   +1 more source