Results 51 to 60 of about 7,914 (209)

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

European Journal of Neurology, Volume 33, Issue 9, September 2026.
Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann, Göknur Haliloğlu, Maria Antonia Grimalt, Damjan Osredkar, Ana Vesperinas Castro, Silvia Cerezo Corredera, Angela Abicht, Adalet Elçin Yıldız, Johann Böhm, Ulrike Schara‐Schmidt, Anja Troha Gergeli, Berta Estevez‐Arias, Elena Cortes Vicente, Andres Nascimento, Adela Della Marina, Daniel Natera‐de Benito, Andreas Roos   +16 more
wiley   +1 more source

Insights into the Genetics of Clubfoot

, 2015
Clubfoot, a common complex birth defect, affects 135,000 newborns each year worldwide. While tremendous strides have been made in treatment with the Ponsetti nonsurgical method, the post-treatment foot generally remains small with hypoplastic calf ...
Blanton, Susan H, Weymouth, Katelyn S, Katelyn S. Weymouth, Jacqueline T. Hecht, Susan H. Blanton, Hecht, Jacqueline T   +5 more
core   +1 more source

The potential of machine learning in classifying relapse and non-relapse in children with clubfoot based on movement patterns

Scientific Reports
The diverse nature and timing of a clubfoot relapse pose challenges for early detection. A relapsed clubfoot typically involves a combination of deformities affecting a child’s movement pattern across multiple joint levels, formed by a complex kinematic ...
Lianne Grin, Sieglinde Bogaert, Saskia Wijnands, Arnold Besselaar, Marieke van der Steen, Jesse Davis, Benedicte Vanwanseele   +6 more
doaj   +1 more source

The feasibility of a training course for clubfoot treatment in Africa: A mixed methods study. [PDF]

PLoS ONE, 2018
BACKGROUND:There is no available training programme with standard elements for health workers treating clubfoot in Africa. Standardised training with continued mentorship has the potential to improve management of clubfoot.
Tracey Smythe, Rosalind Owen, Grace Le, Esperance Uwizeye, Linda Hansen, Christopher Lavy   +5 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Prenatal Ultrasound Diagnosis of Clubfoot

, 1999
Prenatal ultrasound diagnosis of clubfoot is increasing. Of 103 patients with clubfoot diagnosed at birth, 26 (25.2%) positive prenatal scans were identified with the earliest diagnosis being made at 15 weeks. A questionnaire assessment indicated that 17
Margaret E. Furness, Foster, B., Burgan, H., Bruce K. Foster, Furness, M., Helen E. Burgan   +5 more
core   +1 more source

Initial clubfoot treatment in Sweden from 2016 to 2019: A national register study.

PLoS ONE
BackgroundThis study aimed to describe the initial treatment of clubfoot deformity in Sweden using a national cohort. Secondarily we aimed to analyse the results of the initial treatment in relation to foot severity and additional diseases.MethodsA ...
Arne Johansson, Henrik Wallander, Anna-Clara Esbjörnsson   +2 more
doaj   +1 more source

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla, Rashmi Mahajan, Anuj Kumar Tyagi, Kamendra Swaroop   +3 more
wiley   +1 more source

Motor and cognitive functioning in children treated for idiopathic clubfoot at the age of 3 years

BMC Pediatrics, 2019
Background Several studies have investigated motor and cognitive skills in infants as well as gross motor abilities in schoolchildren treated for congenital idiopathic clubfoot, mostly indicating specific impairments in those children. However, until now,
Julia Dillmann, Gudrun Schwarzer, Christian-Dominik Peterlein   +2 more
doaj   +1 more source