Results 61 to 70 of about 2,631 (193)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Manifestaciones digestivas en pacientes hospitalizados con la COVID-19

Revista Cubana de Medicina Militar, 2022
Introducción: La COVID-19 ha provocado una crisis sanitaria sin precedentes, al tratarse de una enfermedad emergente, inédita y con alta transmisibilidad. Nuevas cepas diferentes a la variante original del virus, ya han sido identificadas, lo que pudiera
Cesar Abrahan Aguero Figueredo, Moyra Agüero Figueredo, Yenier López Barrero, Lilian Zúñiga Fernández   +3 more
doaj  

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Profilaxis de náuseas y vómitos después de la colecistectomía a cielo abierto

Medisan, 2013
Introducción: la patogenia de las náuseas y vómitos en el período posoperatorio no está definida, pero es conocido su carácter multifactorial. Objetivo: determinar la asociación entre los factores de riesgo de náuseas y vómitos con medicamentos, tales ...
Zaily Fuentes Díaz, Orlando Rodríguez Salazar   +1 more
doaj  

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

Tratamiento psicológico de la nauseas y vómitos anticipatorios inducidos por quimioterapia o radioterapia

Psicooncologia, 2014
La emesis producida por la quimioterapia y radioterapia puede afectar significativamente la calidad de vida de los pacientes con cáncer. La emesis anticipatoria es una respuesta condicionada que aparece en pacientes antes de recibir el ciclo de ...
Laura María Haro, Rebeca Mondéjar, María del Mar Muñoz, María José Molina, Amaya Olaverri, José Antonio Santiago   +5 more
doaj   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Citrus aurantium honey‐mediated gut homeostasis and anti‐inflammation via Thorl/Nprl2‐TORC1 signaling: Network pharmacology and Drosophila validation

Animal Models and Experimental Medicine, EarlyView.
The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan, Ruiguang Huang, Shuqiong Cao, Luxia Pan, Wenkai Zhang, Wujun Jiang, Zhiyong Liu   +6 more
wiley   +1 more source

Circular Economy‐Driven Cs/Sg/MGNPs/AC Composite for Efficient Methylene Blue Removal and Subsequent Valorization as a Urea Oxidation Electrocatalyst

Journal of Applied Polymer Science, EarlyView.
This image is a graphical abstract for outlining the synthesis, characterization, and application of a novel composite material designed to remove toxic pollutants (specifically Methylene Blue dye; MB) from water, and its subsequent use in electrochemical applications.
Rehab Mahmoud, Lina M. Alneghery, Ahmed Abdelazim Khalifa, Marwa H. Shemy, Ahmed A. Allam, Saber A. A. Elsuccary, Samar M. Mahgoub   +6 more
wiley   +1 more source