Results 51 to 60 of about 147,877 (305)

Gestational Age Alters Assessment of Neonatal Abstinence Syndrome

, 2022
Neonatal abstinence syndrome (NAS) due to maternal opioid use affects both term and preterm infants; however, the relationship between gestational age and clinical symptomatology is still poorly understood.
Sasha Amiri, Jayasree Nair
core   +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

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis

Orphanet Journal of Rare Diseases
Background Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel ...
Zhenzhu Zheng, Weilin Peng, Yiming Lin, Weihua Lin, Gaoxiong Wang   +4 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A Rapid Assessment of the Quality of Neonatal Healthcare in Kilimanjaro Region, Northeast Tanzania. [PDF]

, 2012
While child mortality is declining in Africa there has been no evidence of a comparable reduction in neonatal mortality. The quality of inpatient neonatal care is likely a contributing factor but data from resource limited settings are few. The objective
Mbwele, Bernard, Reddy, Elizabeth, Bernard Mbwele, Elizabeth Reddy, Hugh Reyburn, Reyburn, Hugh   +5 more
core   +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

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Reduced glutathione and glutathione disulfide in the blood of glucose-6-phosphate dehydrogenase-deficient newborns

BMC Pediatrics, 2017
Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) using tandem mass spectrometry (MS/
Zhen-hua Gong, Guo-li Tian, Qi-wei Huang, Yan-min Wang, Hong-ping Xu   +4 more
doaj   +1 more source

Screening for Neonatal Jaundice with a Smartphone [PDF]

Proceedings of the 2017 International Conference on Digital Health, 2017
A method to screen for jaundice in neonates using a digital image of the sclera is proposed. The RGB pixel values from a raw format image are used to derive an estimate for the total serum bilirubin (TSB).
Felix Outlaw, Judith Meek, Lindsay W. MacDonald, Terence S. Leung   +3 more
openaire   +1 more source

Effect of case management on neonatal mortality due to sepsis and pneumonia. [PDF]

, 2011
BACKGROUND: Each year almost one million newborns die from infections, mostly in low-income countries. Timely case management would save many lives but the relative mortality effect of varying strategies is unknown.
Bhutta Zulfiqar A, Zulfiqar A Bhutta, Zaidi, Anita K. M., Ganatra, Hammad A, Ganatra Hammad A, Lawn, Joy E, Lawn, Joy E., Lawn Joy E, Joy E Lawn, Cousens Simon, Syed, Sana, Robert Black, Simon Cousens, Zaidi Anita K M, Lee, Anne CC, Black, Robert, Lee Anne CC, Ganatra, Hammad A., Cousens, Simon, Sana Syed, Zaidi, Anita KM, Bhutta, Zulfiqar A, Hammad A Ganatra, Black Robert, Anita K M Zaidi, Bhutta, Zulfiqar A., Anne CC Lee, Lee, Anne C. C., Syed Sana   +28 more
core   +1 more source