Results 141 to 150 of about 247,020 (262)

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Effect of Remote Essential Newborn Care Training Paired With In-Person Quality Improvement on Optimizing Immediate and Resuscitative Care Practices. [PDF]

Acta Paediatr
Kc A, Paudel P, Bhattarai P, Basnet O, Gurung R, Kreyenbaum L, Malla H, Rayne BDK, Berkelhamer S.   +8 more
europepmc   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

A Culturally Tailored, Behavioral Theory-Informed Educational Intervention for Pregnant Women to Improve Postnatal Care Use and Safe Maternal and Newborn Care Practices in Ethiopia: Protocol for a Cluster Randomized Controlled Trial. [PDF]

JMIR Res Protoc
Tiyare FT, Dimore AL, Marine BT, Hetzel MW, Fink G.   +4 more
europepmc   +1 more source

The impact of COVID-19 pandemic on the healthcare of premature babies

European Journal of Midwifery, 2020
Eleni Vavouraki
doaj   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Early essential newborn care: a decade of scaling up quality, life-saving interventions across East Asia and the Pacific (2013-2023). [PDF]

BMJ Glob Health
Sobel HL, Murray JCS, Mannava P, Delgermaa V, Pham HV, Li Z, Tran H, Chhour YM, Im S, Rathavy T, Kim R, Krang S, Cheang K, Phal S, Xu T, Rattana S, Singharaj V, Phrasithdeth B, Kounnavongsa O, Baldan T, Roland B, Waramin E, Salva M, Yaipupu J, Calibo AP, Constantino R, Bello M, Kitong J, Jatobatu A, Dinh TA, Tran KD, Tuan HA, Pham TQN, Orelly T, Bayandorj T, Ko E, Silvestre MA, Mason E, Obara H, Putney P, Kubota S.   +40 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Implementation of essential newborn care in settings of high-intensity armed conflict: a systematic review. [PDF]

BMJ Glob Health
Moutwakil A, Kumar A, Li AT, Huang CJ, Nelson BD, Woodward A, Amsalu R, Darmstadt GL, Mediratta RP.   +8 more
europepmc   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source