Results 41 to 50 of about 251,581 (308)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Risk factors for feed intolerance in very low birth weight infants

Current Medicine Research and Practice, 2021
Background and Objectives: Very low birth weight (VLBW) neonates are at risk of feed intolerance (FI) and necrotising enterocolitis. We planned this study to evaluate the risk factors for FI in VLBW neonates.
Anurag Fursule, Manoj Modi, Satish Saluja, Arun Soni   +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

Fluid and Electrolyte Management of Very Low Birth Weight Infants

Pediatrics and Neonatology, 2012
Recent advances in medical knowledge and technology have markedly improved the survival rates of very low birth weight infants. Optimizing the neuro-developmental outcomes of these survivors has become an important priority in neonatal care, which ...
William Oh
doaj   +1 more source

A predictive score for retinopathy of prematurity in very low birth weight preterm infants [PDF]

, 2011
Aims This study describes the development of a score based on cumulative risk factors for the prediction of severe retinopathy of prematurity (ROP) comparing the performance of the score against the birth weight (BW) and gestational age (GA) in order to ...
A Aggarwal, A Hellstrom, A Hellstrom, A Patz, AL Hard, C Gilbert, C Lofqvist, C Lofqvist, DK Wallace, Early Treatment for Retinopathy of Prematurity Cooperative Group, EZ Martinez, G Binenbaum, G U Eckert, GE Quinn, HL Chen, J B Fortes Filho, J Chen, JB Fortes Filho, JB Fortes Filho, JB Fortes Filho, JB Fortes Filho, JB Fortes Filho, JI Hagadorn, K Allegaert, LE Smith, M Eriksson, M Maia, MS Brown, O Aydemir, P Manzoni, R S Procianoy, S Fluckiger, SE Brooks, Thomas Aaberg, VA Shah   +34 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Survival of very low birth weight children and contributing factors: A study from Tehran, Iran

Payesh, 2021
Objectives: Birth of an infant with very low birth weight (VLBW) (weight less than 1500 grams) is a major cause of deaths and complications in infancy and childhood.
Ramin Mozafari kermani, Jila Sadighi, Abbas Habibollahi, Mahmoud Tavousi, Ali Asghar Haeri Mehrizi, Raheleh Rostami   +5 more
doaj  

Early nCPAP versus intubation in very low birth weight infants

Journal of Pediatric and Neonatal Individualized Medicine, 2013
For many years endotracheal intubation and mechanical ventilation have been the standard of care for very low birth weight infants but, in the last decade, nasal continuous positive airway pressure (nCPAP) has been described in many studies as an option ...
Pedro Neves Tavares, Filipa Flor-de-Lima, Henrique Soares, Hercília Guimarães   +3 more
doaj   +1 more source

OPHTHALMOLOGIC FINDINGS IN VERY LOW BIRTH WEIGHT INFANTS

Journal of Pediatric Ophthalmology & Strabismus, 1998
J Pediatr Ophthalmol ...
Asproudis, I., Andronikou, S., Griva, E., Psilas, K.   +3 more
openaire   +3 more sources

Cost of Morbidities in Very Low Birth Weight Infants [PDF]

The Journal of Pediatrics, 2013
To determine the association between direct costs for the initial neonatal intensive care unit hospitalization and 4 potentially preventable morbidities in a retrospective cohort of very low birth weight (VLBW) infants (birth weight
Tricia J, Johnson, Aloka L, Patel, Briana J, Jegier, Janet L, Engstrom, Paula P, Meier   +4 more
openaire   +2 more sources