Results 61 to 70 of about 105,428 (315)

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Assessment of Nurses’ Knowledge and Competence in Managing Preeclampsia at Maternity Teaching Hospital in Sulaimani city

UHD Journal of Science and Technology
Background: Preeclampsia is one of the most commonly reported complications during pregnancy, affecting approximately 2–15% of all pregnancies. It is characterized by the onset of hypertension after 20 weeks of gestation, accompanied by proteinuria ...
Amani Fadhil Abbas, Peshwaz Abdulrahman Ahmed, Nazera Salam Mena Qadir, Khanda Gharib Aziz   +3 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Congenital toxoplasmosis: potential outcomes and therapeutic challenges - a complex case report of the newborn with treatment-resistant manifestations

Journal of Education, Health and Sport
Introduction and purpose Toxoplasmosis, a prevalent parasitic infection caused by Toxoplasma gondii, impacts approximately one-third of the global population.
Emilia Kowalczyk, Sylwia Koziej, Martyna Niemczuk, Adrianna Jasiuk, Mateusz Wiekiera   +4 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Vascular access in the neonate

, 2020
Keywords: neonate vascular access ultrasound complications Up to recently, inserting venous or arterial 'lines' in the neonate was essentially based on clinical skill and experience.
MD, Anaesthesiologist Thierry Pirotte, MD, Anaesthesiologist Francis Veyckemans, MD, Paediatric intensivist Thierry Detaille   +2 more
core  

Paired unilateral scapular pits in a neonate

, 2023
Congenital skin pits have been observed as a sporadic anatomic variant as well as in association with trauma, maternal infection, genetic syndromes, and metabolic disorders.
Mancuso, Jennifer, Briones, Naomi, Meera Kattapuram, Jennifer Mancuso, Kattapuram, Meera, Naomi Briones   +5 more
core   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Massive biventricular rhabdomyoma in a neonate

, 2017
Rhabdomyoma is a well characterised entity in a neonate. Herein, we report a massive biventricular rhabdomyoma in a neonate presenting with cyanosis and congestive heart failure which was confirmed on autopsy.
Rimlee Dutta, Shyam S Kothari, Manish Pandey, ShyamS Kothari   +3 more
core   +1 more source