Results 161 to 170 of about 112,890 (268)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Uganda's Mandatory Newborn Sickle Cell Disease Screening Programme: Translating a Decade of Evidence into Differentiated Implementation. [PDF]

Pediatric Health Med Ther
Jonani B, Nakawuka B, Ssebunya E, Kwizera R, Bongomin F, Mboowa G.   +5 more
europepmc   +1 more source

Impact of vigabatrin on risk of relapse of infantile spasms

Epilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate, Hayoung E. Ahn, Haley R. Peters, Hiroki Nariai, Rajsekar R. Rajaraman, Shaun A. Hussain   +5 more
wiley   +1 more source

Integrating tuberculosis control into maternal and newborn health services during pregnancy and postpartum is an urgent priority. [PDF]

PLOS Glob Public Health
Okomo U, Nkereuwem E, Blencowe H, Banke-Thomas A, Togun T.   +4 more
europepmc   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

A narrative review of sudden infant death syndrome: pathophysiology, risk factors, and prevention. [PDF]

Eur J Pediatr
Zhang H, Wang L, Jiang P, Li X, Ye S.
europepmc   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

Lung Ultrasound-Guided Non-Fiberobronchoscopic Bronchoalveolar Lavage for Neonatal Atelectatic Pulmonary Disease Treatment: Clinical Practice Guidelines Based on International Expert Consensus. [PDF]

Diagnostics (Basel)
Liu J, Guo YL, Jiang P, Zhang X, Deng BY, Liu ZJ, Wang XX, Hong Y, Ren XL, Zhao MR, Li N, Xie CX, Meng Q, You CM, Liang ZY, Shan RY, Cen JG, Li S, Wang WP, Zang LL, Wang YJ, Liu L, Fu W, Ye YN, Li XX, Bao LY, Feng ZL, Maimaitili A, Sorantin E, Hsieh KS, Kurepa D, Lovrenski J, Kruczek P, Nobile S, Yeh TF, Volpicelli G, Suryawanshi P, Lodha A, Singh Y, On Behalf Of The Paediatric Medicine Branch Of Asia-Pacific Health Association, The Neonatal Critical Care Medicine Branch Of Beijing Association Of Holistic Integrative Medicine, The Lung Ultrasound Technology Extension Expert Group Of China National Health Association.   +41 more
europepmc   +1 more source

Support and destigmatization in early pregnancy loss in Spain

Feminist Anthropology, EarlyView.
Abstract Early miscarriages are a frequent reproductive event, often silenced and shrouded in stigma. Feminist anthropology has pointed out how such losses challenge the widespread Euro‐American social representations of motherhood and pregnancy, as well as societal unease with death.
Giulia Colavolpe‐Severi, Alexandra Desy, Carolina Remorini   +2 more
wiley   +1 more source

National trends in neonatal diagnoses recorded at hospital discharge in Kazakhstan, 2014-2024. [PDF]

BMJ Paediatr Open
Tatibekova BN, Sagatbaeva AK, Tatibekov BN.   +2 more
europepmc   +1 more source