Results 111 to 120 of about 145,893 (342)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

MULTI-STAGE TREATMENT OF TETRALOGY OF FALLOT: FROM PALLIATIVE INTERVENTIONS TO HYBRID Y-STENTING OF THE PULMONARY ARTERY BIFURCATION STENOSIS AND RADICAL CORRECTION (CLINICAL CASE)

Паёми Сино
Primary radical correction of tetralogy of Fallot (ToF) is an optimal surgical option; however, in some conditions, in particular with concomitant extracardiac pathology and hypoplasia of the pulmonary artery (PA) branches, this intervention is not ...
F.M. DADABAEV, K.V. PETROSYAN, A.I. KIM, A.A. SOBOLEV, E.V. TOKAREVA, E.Z. GOLUKHOVA   +5 more
doaj   +1 more source

Clinical spectrum of infantile scimitar syndrome: A tertiary center experience

Annals of Pediatric Cardiology, 2014
Aim: Infantile scimitar syndrome is a rare condition, with most of the literature reports being limited to case reports and a few case series. The aim of this study was to review patients with infantile scimitar syndrome who presented to our hospital ...
Hadeel Al Rukban, Mohammed Al Ghaihab, Omar Tamimi, Suhail Al-Saleh   +3 more
doaj   +1 more source

Familial congenital adrenal hypoplasia. [PDF]

, 1968
N. V. O’Donohoe, P. D. J. Holland
openalex   +1 more source

Previable PROM in twins: A systematic review and meta‐analysis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Background Previable prelabor rupture of membranes (PROM) in twin pregnancies is a rare but high‐risk condition associated with substantial neonatal mortality and maternal morbidity. Management options include expectant management and selective reduction, though guidance is limited and based primarily on singleton data.
Marwan Odeh, Maya Frank Wolf, Forsan Kenaan, Raneen Sawaid Kaiyal, Ala Aiob, Lior Lowenstein, Inshirah Sgayer   +6 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Congenital adactyly and oligodactyly with metatarsal hypoplasia in two rhesus monkeys [PDF]

, 2023
Bárbara Cristina da Silva Meireles, Beatriz Goldschmidt, Gabriel M. Leal, Fabiano Venâncio Dias, Natalia F. G. Cordeiro, Paulo Ricardo Ferreira Filho, Marllus L. Barros   +6 more
openalex   +1 more source

Pre‐operative transcranial Doppler ultrasound assessment of cerebral collateral circulation in children undergoing veno‐arterial extracorporeal membrane oxygenation or cardiac surgery

Journal of Medical Radiation Sciences, EarlyView.
A pre‐cannulation survey of the circle of Willis (CoW) using transcranial Doppler (TCD) ultrasound was implemented to assess cerebral collateral circulation in children undergoing VA ECMO or cardiac surgery with cervical cannulation. The technique, in use since 2019, employs high‐end ultrasound platforms to assess brain morphology, haemorrhage and ...
Tristan Reddan, Michael Malouf, Prem Venugopal, Jennifer Powell   +3 more
wiley   +1 more source

Bordon V, Gennery AR, Slatter MA, et al. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood. 2010;116(1):27–35. [PDF]

, 2010

openalex   +1 more source