RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia
ABSTRACT Background RASGRP1 deficiency is a rare inborn error of immunity characterized by immunodeficiency, autoimmunity, and lymphoproliferation. Results We report a 5‐year‐old male with novel homozygous splice‐donor mutations in RASGRP1(c.1720+1G>A and c.1720+2T>C) who presented with severe vasculopathy (ischemic stroke and thrombosis), secondary ...
Kosar Asna Ashari +5 more
wiley +1 more source
Economic Evaluation of Combined Testing Strategies Using Erythrocyte Sedimentation Rate and C-Reactive Protein Tests. [PDF]
Yarnoff B +4 more
europepmc +1 more source
Safety and efficacy of weekly adalimumab 80 mg therapy in pediatric Crohn's disease
Abstract Objectives Adalimumab is commonly used to induce and maintain remission in pediatric Crohn's disease (CD). However, data on the efficacy and safety of high‐dose adalimumab in this population are limited. This study aimed to evaluate the therapeutic effectiveness and safety of weekly high‐dose adalimumab (80 mg) in pediatric CD patients ...
Eyal Cohen‐Sela +9 more
wiley +1 more source
Real-World Distributions and Concordance of C-Reactive Protein and Erythrocyte Sedimentation Rate Across Rheumatic Diseases. [PDF]
Popescu CC +4 more
europepmc +1 more source
New Biologic and Small Molecule Therapies for Hidradenitis Suppurativa
ABSTRACT Hidradenitis suppurativa (HS) is an inflammatory skin disease that has historically been underdiagnosed and, until recently, under‐researched. Furthermore, the pathophysiology of HS is complex, and not fully understood. Just three biologic medications—adalimumab (anti‐TNF‐α), secukinumab (anti‐IL17A) and bimekizumab (anti‐IL17A/F) are licensed
Emily Pender +2 more
wiley +1 more source
Elevated TFR1 is associated with inflammatory burden and ferroptosis in ulcerative colitis. [PDF]
He X, Ji J, Feng L, Chen G, Yao Y.
europepmc +1 more source
MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia
A novel homozygous frameshift variant in the MYO6 gene (c.2496_2497delAC; p.H833Qfs*5) was identified in a neonate presenting with bilateral congenital sensorineural hearing loss, paroxysmal supraventricular tachycardia (SVT), and prolonged QT interval.
Samira Kalayinia +5 more
wiley +1 more source
Assessment of systemic inflammatory markers in individuals with hand osteoarthritis: A retrospective case-control study. [PDF]
Şahingöz Bakirci E +2 more
europepmc +1 more source
Nanjing Consensus II on Washed Microbiota Transplantation: Statements From the CHINAGUT Conference
ABSTRACT The new method of fecal microbiota transplantation, based on automatic facilities and washing processes, was coined as washed microbiota transplantation (WMT). The first recommendations on WMT were released as Nanjing Consensus report by the fecal microbiota transplantation (FMT)‐standardization Study Group in 2019.
Faming Zhang +53 more
wiley +1 more source
The interleukin-1 beta 511C>T polymorphism is associated with susceptibility to juvenile idiopathic arthritis in a Turkish population. [PDF]
Dogantan S +5 more
europepmc +1 more source

