Results 81 to 90 of about 519,978 (362)

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

Gestation-wise Reference Ranges of Neutrophil Counts in Indian Newborns

Oman Medical Journal, 2020
In March 2019 issue of the Oman Medical Journal, Das et al, conducted total leukocyte counts, differential counts (lymphocytes and neutrophils), and peripheral blood smear examination in healthy Indian newborns of both sexes, aged 30 to 41 weeks ...
Mahmood Dhahir Al-Mendalawi
doaj   +1 more source

The New Demography of American Motherhood [PDF]

, 2010
Compares the demographics of women who gave birth in 2008 with those who gave birth in 1990, including age, race/ethnicity, marital status, and education and examines contributing factors.
D'Vera Cohn, Gretchen Livingston
core  

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

Language discrimination by newborns: Teasing apart phonotactic, rhythmic, and intonational cues [PDF]

, 2002
Speech rhythm has long been claimed to be a useful bootstrapping cue in the very first steps of language acquisition. Previous studies have suggested that newborn infants do categorize varieties of speech rhythm, as demonstrated by their ability to ...
Ramus, Franck
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Correlation between Penile Length and Anogenital Distance in Term Newborns, Gorgan, 2011 [PDF]

, 2014
Background and purpose: Anogenital distance is an accepted indicator for endogenous or environmental effects of androgens on development of reproductive system in fetus and newborns.
Alaee, E., Fouladinejad, M., Memarzadeh, M.   +2 more
core  

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

Difference in pre‐ and postnatal prevalence of congenital cardiac tumors in a large population‐based cohort

Acta Obstetricia et Gynecologica Scandinavica
Introduction Cardiac tumors in children are rare. Rhabdomyomas are the most common type in newborns, often associated with tuberous sclerosis. The exact prevalence of neonatal cardiac tumors is unknown.
Anne‐Sophie Sillesen, Finn Stener Jørgensen, Olav Bjørn Petersen, Helle Zingenberg, Sofie Dannesbo, Anna Axelsson Raja, Ruth Ottilia Birgitta Vøgg, Niels Vejlstrup, Kasper Iversen, Henning Bundgaard   +9 more
doaj   +1 more source

Optimising Antibiotic use in the Neonatal Intensive Care Unit through Implementation of Antimicrobial Stewardship Program: A Double Cohort Study

Journal of Clinical and Diagnostic Research
Introduction: Inappropriate use of antimicrobials in newborns can lead to serious consequences, including the emergence of multidrug-resistant organisms.
Runjhun, Neha Agarwal, Amitesh Yadav, Yashwant Kumar Rao, Anika Rao   +4 more
doaj   +1 more source