Results 41 to 50 of about 377,217 (306)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Low birth weight and its association factors in Iran: according world health organization model

Journal of Rehabilitation, 2012
Objective: Birth weight is one of the most important ,simplest and common determinations for assessments infants status in each country. this study has been designed to investigate the articles that published in its prevalence and related factors ...
zohreh Mahmoudi, Masoud Karimlou, Homeira Sajjadi, Ma'soumeh Dejman, Marveh Vameghi   +4 more
doaj  

Risk factors of children's low birth weight and infant mortality in Bangladesh: Evidence from binary logistic regression and Cox PH models

Health Science Reports
Background Low birth weight is recognized as a pivotal risk factor affecting child survival and growth. Although Bangladesh has made commendable progress in public health, an infant mortality rate of 38 per 1000 live births and a 16% prevalence of low ...
Md. Johurul Islam, Mashfiqul Huq Chowdhury, Mohammad Mafizur Rahman, Zubaidur Rahman   +3 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Klasifikasi Data Berat Bayi Lahir Menggunakan Probabilistic Neural Network Dan Regresi Logistik (Studi Kasus Di Rumah Sakit Islam Sultan Agung Semarang Tahun 2014) [PDF]

, 2015
Birth Weight Infant (BWI) is the baby's weight weighed in an hour after being born. Factors that may influence the BWI such as maternal age, length of gestation, body weight, height, blood pressure, hemoglobin and parity.
Rahmawati, R. (Rita), Sofha, E. (Erfan), Yasin, H. (Hasbi)   +2 more
core   +3 more sources

Protocol of the Low Birth Weight South Asia Trial (LBWSAT), a cluster-randomised controlled trial testing impact on birth weight and infant nutrition of Participatory Learning and Action through women's groups, with and without unconditional transfers of fortified food or cash during pregnancy in Nepal [PDF]

, 2016
BACKGROUND: Low birth weight (LBW, < 2500 g) affects one third of newborn infants in rural south Asia and compromises child survival, infant growth, educational performance and economic prospects.
Basnet, M, Beard, J, Bhandari, B, Bhim, S, Copas, A, Costello, A, Gram, L, Harris-Fry, H, Harthan, J, Jha, S, Manandhar, D, Morrison, J, Neupane, R, Osrin, D, Paudel, V, Pulkki-Brannstrom, A, Rai, A, Sah, R, Saville, N, Sengupta, A, Skordis-Worrall, J, Style, S   +21 more
core   +6 more sources

The occurrence of developmental enamel defects in very low and extremely low birth-weight infants

Česká Stomatologie a Praktické Zubní Lékařství, 2019
Introduction, aim: Preterm infants with very low birt-weights (VLBW) and extremely low birth-weights (ELBW) suffer from several prenatal and neonatal complications and morbidity that may affect mineralization of primary teeth and occurrence of ...
V. Merglová, R. Koberová Ivančaková, J. Dort   +2 more
doaj   +1 more source

Lipiodol lymphangiography in a very low birth weight premature infant

Journal of Pediatric Surgery Case Reports, 2020
The efficacy and safety of therapeutic lipiodol lymphangiography have been reported by several studies. However, to our knowledge, no study has reported the use of this procedure in very-low-birth-weight infants.
Mitsuhiro Haga, MD, Motoi Kato, Masami Kanno, Masaki Shimizu, Shoji Watanabe   +4 more
doaj   +1 more source

Evaluation of Factors of Low Birth Weight Deliveries: A Cross Sectional Study

Journal of Nepal Health Research Council, 2022
Background: Low birth weight is the most serious challenge for infant survival, healthy growth and development. It is the major determinant of the infant morbidity, mortality and disability in childhood. Different maternal and newborn factors contribute
Shrijana Karki, Vivechana Shakya
doaj   +1 more source