Results 161 to 170 of about 24,798 (312)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Prenatal Diagnosis, EarlyView.
Christopher Connolly, Brian Muchmore, Mallory Wagner, Zineb Ammous, Mohannad Ibrahim, Catherine E. Keegan, Elizabeth G. Ames   +6 more
wiley   +1 more source

Stable Trends in Clinical Outcomes Before Introduction of Couplet Care in a Danish Neonatal Intensive Care Unit

Acta Paediatrica, EarlyView.
ABSTRACT Aim Prior to the implementation of couplet care in 2025, knowledge of clinical outcomes was central to support feasibility and future evaluation. We aimed to review trends on mode of delivery, duration of respiratory support, nutrition at discharge and weight gain. Methods This was a descriptive register‐based study that used data from a local
Michella Bjerregaard, Anne Brødsgaard, Anna Axelin, Ingrid Poulsen, Emma Malchau Carlsen   +4 more
wiley   +1 more source

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source

Immune System Development—Pro Tips for Paediatricians

Acta Paediatrica, EarlyView.
ABSTRACT There are many misconceptions about the immune system in children, its impact on infectious disease susceptibility and its role in the rapidly increasing rates of immune mediated diseases in industrialized societies. In this mini review, I will discuss common believes and the data supporting or countering such believes, with a focus on ...
Petter Brodin
wiley   +1 more source

Improving Medication Safety Following Neonatal Discharge: A Feasibility Study of a Parent Medication Education Intervention in Ireland

Acta Paediatrica, EarlyView.
ABSTRACT Aim Neonates discharged home on medications remain at risk of medication errors. The PADDINGToN programme previously developed parent co‐designed resources to support safer medication administration following discharge. The aim of this study, PADDINGToN‐2, is to evaluate the feasibility of recruiting and retaining parents in a study assessing ...
S. Giva, B. Cleary, F. Gaffney, L. Bracken, A. Gill, C. Sutton, J. Clark, V. Gray, N. McCallion, F. O'Brien   +9 more
wiley   +1 more source

Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt. [PDF]

Eur J Pediatr
Abdelrazic MI, Hemeda MS, Abd-Elaziz MA, Mahmoud AR, Abuelela IS.   +4 more
europepmc   +1 more source

Advances in inborn errors of metabolism [PDF]

Journal of Human Genetics, 2019
Toshiyuki, Fukao, Kimitoshi, Nakamura
openaire   +2 more sources

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report. [PDF]

BMC Pediatr
Thaver S, Ebrahim M, Noorani M, Alimohamed ZM, Edward K, Furia F, Kwayu J, Fidaali Z, Abdallah Y.   +8 more
europepmc   +1 more source