Results 11 to 20 of about 799,457 (416)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Effects of pregnancy on neuromyelitis optica spectrum disorder and predictors of related attacks

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1918-1925, December 2022., 2022
Abstract Objective Our study aimed to investigate the influence of pregnancy on the course of neuromyelitis optica spectrum disorders (NMOSD) and to explore the independent predictors of pregnancy‐related attacks. Methods We performed a retrospective study of patients with NMOSD based on the Wingerchuk 2006 or the revised Wingerchuk 2015 criteria ...
Qin Du, Ziyan Shi, Hongxi Chen, Ying Zhang, Yuhan Qiu, Yanlin Lang, Lingyao Kong, Hongyu Zhou   +7 more
wiley   +1 more source

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel   +7 more
wiley   +1 more source

Physician–patient racial concordance and disparities in birthing mortality for newborns

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance A large body of work highlights disparities in survival rates across Black and White newborns during childbirth. We posit that these differences may be ameliorated by racial concordance between the physician and newborn patient.
Brad N. Greenwood, R. Hardeman, Laura Huang, Aaron J. Sojourner   +3 more
semanticscholar   +1 more source

How to Provide Motherside Neonatal Resuscitation with Intact Placental Circulation?

Children, 2021
Immediate clamping and cutting of the umbilical cord have been associated with death and/or neurodisability [...]
David Hutchon, Simone Pratesi, Anup Katheria   +2 more
doaj   +1 more source

Case Report: Energy- and Nutrient-Dense Formula for Growth Faltering: A Report of Two Cases From India

Frontiers in Nutrition, 2021
Infants hospitalized for critical illnesses are at a high risk of undernutrition because of increased nutrient requirements (due to increased metabolism) and decreased nutrient intake (due to disease-related problems such as anorexia or feeding ...
Zahid Ul Kareem, Suresh Kumar Panuganti, Shikha Bhatia   +2 more
doaj   +1 more source

Newborns discriminate novel from harmonic sounds: a study using magnetoencephalography [PDF]

, 2006
Objective: We investigated whether newborns respond differently to novel and deviant sounds during quiet sleep. Methods: Twelve healthy neonates were presented with a three-stimulus oddball paradigm, consisting of frequent standard (76%), infrequent
Alho, Alho, Anke Sambeth, Brannon, Cheour, Cheour, Cheour, Cheour, Cheour, Csepe, Donchin, Elena Kushnerenko, Elina Pihko, Ellingson, Escera, Friedrich, Hari, Huotilainen, Huotilainen, Javitt, Kok, Kujala, Kurtzberg, Kushnerenko, Kushnerenko, Kushnerenko, Lengle, Leppänen, Leppänen, Leppänen, Martynova, McIsaac, Minna Huotilainen, Määttä, Novak, Näätänen, Ohlrich, Paavilainen, Picton, Pihko, Rinne, Ruusuvirta, Shestakova, Taulu, Vineta Fellman, Čeponiene, Čeponiene, Čeponiene   +47 more
core   +8 more sources

Serum N-Terminal Pro-B-Type Natriuretic Peptide as a Biomarker of Critical Pulmonary Stenosis in Neonates

Frontiers in Pediatrics, 2022
Objectives: To determine the efficacy of serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels in predicting critical pulmonary stenosis (CPS) in neonates.Methods: All neonates with pulmonary stenosis (PS) admitted to the neonatal intensive ...
Zhiwei Lin, Yanru Chen, Lin Zhou, Sun Chen, Hongping Xia   +4 more
doaj   +1 more source

"INTERGROWTH21st vs customized fetal growth curves in the assessment of the neonatal nutritional status: a retrospective cohort study of gestational diabetes" [PDF]

, 2020
Background Gestational diabetes mellitus is associated with increased incidence of adverse perinatal outcomes including newborns large for gestational age, macrosomia, preeclampsia, polyhydramnios, stillbirth, and neonatal morbidity.
Castillo Lara, María, Fernández Alba, Juan Jesús, González Macías, María del Carmen, Moreno Corral, Luis Javier, Moreno Cortés, Rocío, Sainz Bueno, José Antonio, Soto Pazos, Estefanía, Vilar Sánchez, Ángel   +7 more
core   +1 more source

A case report of prenatal diagnostics and surgical correction of pulmonary agenesis associated with total anomalous pulmonary venous connection and vascular ring

Romanian Journal of Cardiology, 2023
Pulmonary agenesis is a rare malformation associated with congenital heart disease and may lead to a life-threatening condition and death without pre-planned surgical and medical support.
Delikatnyi Maksym, Tammo Raad, Morkovkina Hanna, Teterin Oleksandr, Yalynska Tetyana, Sekelyk Roman   +5 more
doaj   +1 more source