Results 101 to 110 of about 338,913 (237)

Retrospective Evaluation of a New Danish National Guideline: Impact on Neonatal Hypoglycemia and Breastfeeding

Acta Paediatrica, EarlyView.
ABSTRACT Aim This study evaluates the impact of the most recent Danish national guideline for the management of neonatal hypoglycemia on neonate nutrition at discharge and the incidence of neonatal hypoglycaemia within the first 24 h postpartum. The updated guideline introduced a 50% reduction in early feeding volume to support exclusive breastfeeding ...
Mariuma Samim, Najma Abdihakim Mohamud, Huda Al‐Hage, Lars Bender, Rasa Cipliene   +4 more
wiley   +1 more source

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

Molecular Genetics and Metabolism Reports
HIBCH (3-Hydroxyisobutyryl-CoA hydrolase) deficiency is a rare, autosomal recessive inborn error of metabolism caused by pathogenic variants in HIBCH and typically presenting in the first year of life with hypotonia, seizures, global developmental delay,
Sonali Patel, Muhammad Zain-ul-abideen, Genevieve Guyol, Lance H. Rodan, Casie A. Genetti, Amy Z. Ren, Philip Connors, Patricia Davenport, Ruby Bartolome, Inderneel Sahai, Vijay S. Ganesh, Monica H. Wojcik   +11 more
doaj   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

3q27.3-q29 duplication and 2q37.2-q37.3 deletion rare in a female child with developmental delay and hypotonia in Manaus, Brazil

, 2022
IntroductionCytogenomic analyses play a fundamental role in the detection of genetic disorders in patients with developmental delay, and are an excellent diagnostic method.ObjectiveReport the case in a female child with developmental delay and hypotonia ...
Dantas, Isabella Cristina Amaral, Prazeres, Vania Mesquita Gadelha, Carvalho, Natalia Dayane Moura, Fantin, Cleiton   +3 more
core   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

National Neonatal Transport Programme: clinical report 2004-2008

, 2009
As is internationally recognised, the success of the centralisation of resources and expertise In the area of neonatology Is dependent on a reliable and effective transport service, The NNTP Is achieving this by the provision of: A comprehensive ...
Bowden, Ann
core  

Fatal Neonatal-onset Glutaric Acidemia Type IIc Masquerading as Neonatal Sepsis: A Case Report

Indian Pediatrics Case Reports
Background: Glutaric acidemia type II (GA-II) is a rare neonatal metabolic disorder that presents with nonspecific features, often posing a diagnostic challenge.
Aayushi Joshi, Shantanu Shubham, Naini Puri, Divya Mishra   +3 more
doaj   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Obstetrical Sequelae of Fetal Hypotonia and Paresis

, 1977
Neuromuscular diseases which affect the fetus form a useful and perhaps exclusive model by which the role of normal fetal muscle tonicity in pregnancy and delivery can be examined. In this context, the pregnancies, deliveries, and neonatal sequelae of 76
John Pearn, Pearn, John H.
core   +1 more source