Results 191 to 200 of about 301,552 (263)

Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Hydroxyurea (HU) is the most widely prescribed disease‐modifying treatment in sickle cell disease (SCD), though treatment responses vary due to metabolism and adherence. We examined HU blood levels and treatment response in patients with homozygous sickle cell disease (HbSS).
Sigrid van der Veen   +26 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho   +9 more
wiley   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang   +6 more
wiley   +1 more source

Systemic Corticosteroids in the Management of Sinonasal Disease: An Evidence‐Based Expert Review

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a prevalent, heterogeneous inflammatory disease associated with significant morbidity. Systemic corticosteroids (SCS) are commonly prescribed for their anti‐inflammatory effects, but cumulative exposure carries risks, including metabolic, cardiovascular, and skeletal complications.
Andrew Thamboo   +28 more
wiley   +1 more source

Research progress on biomarkers of traumatic brain injury

open access: yesAnimal 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   +8 more
wiley   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo   +3 more
wiley   +1 more source

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