Results 131 to 140 of about 63,559 (243)

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima   +48 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao   +122 more
wiley   +1 more source

Study of the gut microbiome profile in full-term infants with necrotizing enterocolits. [PDF]

open access: yesWorld J Clin Pediatr
Hassan EH   +4 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae   +52 more
wiley   +1 more source

Water‐Derived Radical Species Initiate Six‐Electron Oxidation of Cyclic Ketones in Microdroplets

open access: yesAngewandte Chemie, EarlyView.
Spontaneous six‐electron oxidation of cyclic ketones to yield dicarboxylic acids/keto acids is achieved in ethanol microdroplets containing about 2% water under ambient conditions without any metal salts, acids, or oxidants. Mechanistic studies show that trace amounts of water and molecular oxygen serve as active oxidants in this transformation ...
Muhammad Mujahid Ali   +3 more
wiley   +2 more sources

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