Results 71 to 80 of about 115,167 (318)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Severe neonatal air leak syndrome – Question

Journal of Pediatric and Neonatal Individualized Medicine, 2019
Female neonate born at 29+4 gestational weeks by spontaneous vaginal delivery to a 37-year-old mother, with adequate prenatal surveillance and an uneventful pregnancy.
Catarina Matos de Figueiredo, Jorge Abreu Ferreira, Ana Cristina Freitas, Ana Novo, Elisa Proença, Carmen Carvalho, Luísa Neiva Araújo   +6 more
doaj   +1 more source

Operating Room Within the Neonatal Intensive Care Unit-Experience of a Medical Center in Taiwan

, 2017
Background: Most neonates who reside in the neonatal intensive care unit (NICU) and require surgery are transferred to the operating room (OR) or undergo bedside surgery.
Wang, Ya-Lei;Jeng, Suh-Fang;Tsao, Po-Nien;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun, 周弘傑;曹伯年;謝武勳;鄭素芳;陳倩儀   +1 more
core   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Paroxysmal supraventricular tachycardia: physiopathology and management

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Paroxysmal supraventricular tachycardia (PSVT) is the most frequent arrhythmia in newborns and infants. Most supraventricular tachycardias affect structurally healthy hearts. Apart from occasional detection by parents, most tachycardias in this age group
Paola Neroni, Giovanni Ottonello, Danila Manus, Alessandra Atzei, Elisabetta Trudu, Susanna Floris, Vassilios Fanos   +6 more
doaj   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Māori whānau experiences of a neonatal intensive care unit: Waikato hospital

, 2009
This thesis topic emerged from my personal experience of having a premature baby in the Neonatal Intensive Care Unit (NICU) at Waikato hospital. My whānau and I felt like aliens; culturally inept, and totally alone during our time in the NICU.
Thompson, Keri
core  

Polish version of the Parental Stressor Scale: Neonatal Intensive Care Unit

, 2019
Introduction Parental Stressor Scale: Neonatal Intensive Care Unit (PSS:NICU) by M. Miles et al. has been developed in order to assess the stress experienced by parents of infants being treated in Intensive Care Units.
Anna Aftyka, Rozalska, I., Marzena Elżbieta Samardakiewicz, Rybojad, B., Beata Rybojad, Aftyka, A., Ilona Rozalska, Marzena Samardakiewicz, Samardakiewicz, M.E.   +8 more
core   +1 more source

Multi‐method analysis for the three‐dimensional reconstruction of muscle fascicles from DiceCT datasets

The Anatomical Record, EarlyView.
Abstract Muscle architecture is a major determinant of muscle performance and, in mammalian lineages, has been correlated with both feeding ecology and locomotor behaviors. Over the past decade, contrast‐enhanced micro‐CT (DiceCT) has emerged as an alternative to traditional dissection‐based measurement.
Aleksandra Ratkiewicz, Michael C. Granatosky, Cassidy E. Davis, Julia Molnar, Adam Hartstone‐Rose, Edwin Dickinson   +5 more
wiley   +1 more source