Results 71 to 80 of about 152,354 (313)

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

Selenium Status of Very Low Birth Weight Infants [PDF]

Pediatric Research, 1993
The selenium (Se) intake and status of 82 very low birth weight infants (birth weight 1110 +/- 286 g, gestational age 29.2 +/- 3 wk, mean +/- SD) was assessed at 36.3 +/- 3 postconceptional wk, at 40.1 +/- 4 wk (hospital discharge), and at 3, 6, 9, and 12 +/- 0.75 mo corrected for gestational age.
J K, Friel, W L, Andrews, D R, Long, M R, L'Abbé   +3 more
openaire   +2 more sources

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

Successful Resuscitation of an Extremely Low Birth Weight Premature Infant in Delma Island Community Hospital, United Arab Emirates

Sultan Qaboos University Medical Journal, 2012
Because of their physical size and physiological immaturity, resuscitation of extremely very low birth weight premature infants is a big dilemma for neonatologists in any hospital. The resuscitation may present an additional challenge to the caregiver if
Zahra’a Mohamed Saeed, Imad Ibrahim Shubbar   +1 more
doaj  

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

Postnatal Growth Assessment of the Very-Low-Birth-Weight Preterm Infant

Children
Preterm birth represents a nutritional emergency and a sudden dissociation of the maternal–placental–fetal unit that regulates metabolic and endocrine physiology. Growth demonstrates health and is a signal of physiological well-being. Growth is expensive
Kera McNelis, Melissa Thoene, Katie A. Huff, Ting Ting Fu, Zaineh Alja’nini, Sreekanth Viswanathan   +5 more
doaj   +1 more source

Glutamine Metabolism in Very Low Birth Weight Infants [PDF]

Pediatric Research, 1997
To quantitate glutamine kinetics in premature infants and determine whether glutamine affects leucine metabolism. 11 very low birth weight (< 1250 g) neonates received 4-h i.v. infusions of L-[2H3]leucine and L-[13C5]glutamine, along with orogastric infusion of L-[I-13C]leucine and L-[I-13C]glutamine on the 10th d of life and in the fed state. Patients
D, Darmaun, J C, Roig, N, Auestad, B K, Sager, J, Neu   +4 more
openaire   +2 more sources

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

Dichotomous development of the gut microbiome in preterm infants

Microbiome, 2018
Background Preterm infants are at risk of developing intestinal dysbiosis with an increased proportion of Gammaproteobacteria. In this study, we sought the clinical determinants of the relative abundance of feces-associated Gammaproteobacteria in very ...
Thao T. B. Ho, Maureen W. Groer, Bradley Kane, Alyson L. Yee, Benjamin A. Torres, Jack A. Gilbert, Akhil Maheshwari   +6 more
doaj   +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