Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome
Objective VEXAS syndrome is a severe X‐linked autoinflammatory disorder caused by somatic mutations in ubiquitin‐like modifier activating enzyme 1 (UBA1), with clinical outcomes that vary by UBA1 genotype. We aimed to elucidate genotype‐specific inflammatory programs and identify potential therapeutic targets.
Kana Higashitani +10 more
wiley +1 more source
Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family. [PDF]
Luo H +7 more
europepmc +1 more source
Increased Risk of Subsequent Cancers in Patients With Sézary Syndrome
American Journal of Hematology, EarlyView.
Julia Nenonen +3 more
wiley +1 more source
Objective Real‐world initial treatment strategies in SSc‐PAH remain incompletely described. We aimed to characterise these strategies across haemodynamic thresholds and risk strata and evaluate outcome associations. Methods We analysed treatment‐naïve SSc‐PAH patients in EUSTAR (2000–2021) fulfilling the 2022 haemodynamic definition.
Hilde Jenssen Bjørkekjær +30 more
wiley +1 more source
High prevalence of Hb Q-Thailand not in cis with the -α<sup>4.2</sup> deletion: genotypes, phenotypes, and implications in the cenxi population of southern China. [PDF]
Li Y, Wu M, Zheng L, Liang L, Li Y.
europepmc +1 more source
Aims This work aimed to contextualize glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) and glucose‐dependent insulinotropic polypeptide (GIP) receptor agonists safety and efficacy regarding weight management (WM); we analysed Food and Drug Administration (FDA) Medical Reviews to analyse 14 medications using patient‐exposure year normalization and ...
Aishwarya Prasad +4 more
wiley +1 more source
Hemoglobin suresnes combined with α<sup>0</sup>-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing. [PDF]
Liu HL, Huang WT.
europepmc +1 more source
Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1
American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko +6 more
wiley +1 more source
Hypertension in obesity represents a major global health challenge, closely linked to the global epidemics of obesity, type 2 diabetes and metabolic dysfunction. Excess adiposity contributes to elevated blood pressure through multiple, interrelated mechanisms, including activation of the renin–angiotensin–aldosterone system, sympathetic nervous system ...
Christina Antza +12 more
wiley +1 more source
A long-lasting low oxygen saturation hiding Titusville hemoglobin diagnosis in a premature 14-month-old child - case report. [PDF]
Patria MF +7 more
europepmc +1 more source

