Results 51 to 60 of about 165,980,093 (264)

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients

Journal of Human Immunity
Clinical research and real-world observational studies are essential for advancing the diagnosis and treatment of rare diseases, such as inborn errors of immunity/primary immune disorders (IEI/PID).
Markus G. Seidel
doaj   +1 more source

Novel genetic variants of inborn errors of immunity.

PLoS ONE, 2021
ObjectivesInborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention.
Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi   +3 more
doaj   +1 more source

Thymic inborn errors of immunity

Journal of Allergy and Clinical Immunology
The thymus is crucial for optimal T-cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity causing complete or partial defects in thymic development (athymia) and/or impaired thymic function ...
Pala, Francesca, Notarangelo, Luigi D., Lionakis, Michail S.   +2 more
openaire   +3 more sources

Bone health in patients with inborn errors of metabolism

, 2018
Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and
Langeveld, M., Hollak, C. E. M.
core   +1 more source

Movement Disorders in Treatable Inborn Errors of Metabolism

, 2019
There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with
Van Karnebeek, Clara, Münchau, Alexander, Ebrahimi-Fakhari, Darius   +2 more
core   +1 more source

Human Inborn Errors of Immunity: 2019 Update on the Classification

, 2020
: We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee.
Torgerson, Troy R, Oksenhendler, Eric, Franco Restrepo, José Luis, Tangye, Stuart, Sullivan, Kathleen E, Holland, Steven, Bousfiha, Aziz, Ochs, Hans D, Holland, Steven M, Puck, Jennifer, Etzioni, Amos, Chatila, Talal, Klein, Christoph, Al-Herz, Waleed, Cunningham-Rundles, Charlotte, Tangye, Stuart G, Casanova, Jean-Laurent, Picard, Capucine, Morio, Tomohiro   +18 more
core   +1 more source

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents [PDF]

, 2019
BACKGROUND: Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs.
Zeltner, Nina A., Welsink-Karssies, Mendy M., Bosshard-Bullinger, Dominique, Bosch, Annet M., Baumgartner, Matthias R; https://orcid.org/, Landolt, Markus A., Baumgartner, Matthias R., Karall, Daniela, Keller, Fabia, Huemer, Martina, Welsink-Karssies, Mendy M, Grünert, Sarah C, Groenendijk, Marike, Scholl-Bürgi, Sabine, Huemer, Martina; https://orcid.org/, Zeltner, Nina A, Rettenbacher, Beatrix, Landolt, Markus A; https://orcid.org/, Bosch, Annet M, Grünert, Sarah C.   +19 more
core   +1 more source

Transition of care in inborn errors of immunity

Current Opinion in Allergy & Clinical Immunology, 2023
Purpose of review This review outlines the principles of transition, summarizes current information about transition practices in inborn errors of immunity (IEI) and highlights general and specific considerations for transition of patients with these conditions.
Tadros, Susan, Burns, Siobhan O.
openaire   +2 more sources

Strategic Design of Soft Actuators in Translational Medical Robotics for Human‐Centered Healthcare

Advanced Robotics Research, EarlyView.
Soft robotics enables biocompatible, compliant medical devices, but clinical translation requires design‐driven engineering beyond materials. This perspective reviews implantable, surgical, and wearable systems by actuation mechanism, highlighting how optimized architectures and integration improve mechanical interfacing, adaptability, and durability ...
Ho Jun Jin, Jimin Kim, Inho Kim, Bong Hoon Kim   +3 more
wiley   +1 more source