Results 61 to 70 of about 255,153 (264)

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

NEWBORN SKIN CARE

Медицинский совет, 2017
In this article the authors provide a detailed description of anatomic and physicological peculiarities of the newborn children, the role of the vernix caseosa, a group of premature children is described as a separate group.
I. I. RYUMINA, V. V. ZUBKOV
doaj   +1 more source

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

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

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

Oxidative stress and total antioxidant status in term newborns and their mothers [PDF]

, 2015
The peripartum period and delivery are considered critical for maintaining a balance between the production of free oxygen radicals and functional incompetence of the antioxidant system of a foetus and a neonate. [b]Objective.[/b] The aim of the study
Maria K Borszewska-Kornacka, Maria Wilinska, Grzegorz Jakiel, Tomasz Niemiec   +3 more
core   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Orthogonal Polarization Spectral Imaging (OPS) Measurements of Microcirculatory Changes in Term Newborns with Suspected Infection [PDF]

, 2010
The early diagnosis of neonatal infection remains a challenge. Recent studies using Optical Polarized Spectral (OPS) imaging techniques, have reported microcirculatory alterations in adult patients with severe sepsis and septic shock.
Alba Alejandre, Irene
core   +1 more source

Early Bacterial Colonization and Antibiotic Resistance Gene Acquisition in Newborns

Frontiers in Cellular and Infection Microbiology, 2020
Several studies have recently identified the main factors contributing to the bacterial colonization of newborns and the dynamics of the infant microbiome development.
Tilman E. Klassert, Cristina Zubiria-Barrera, Stefanie Kankel, Stefanie Kankel, Magdalena Stock, Robert Neubert, Fabian Lorenzo-Diaz, Norman Doehring, Dominik Driesch, Doris Fischer, Hortense Slevogt   +10 more
doaj   +1 more source