Update in familial Mediterranean fever.

Purpose Of Review: Familial Mediterranean fever (FMF) is the prototypic autoinflammatory disease. Although the gene associated with the disease was identified 24 years ago, we still have to learn about the pathogenesis of its inflammation and the variation in the phenotype. In this review, we discuss some recent findings in FMF, such as changes in our understanding of the genetics, aims to define new criteria, and factors contributing to the disease presentation.

Prognostic value of magnetic resonance imaging in the evaluation of physical therapy outcomes in patients with adhesive capsulitis.

Objectives: This study aims to investigate whether the treatment outcomes of patients with a clinical diagnosis of adhesive capsulitis (AC) and magnetic resonance imaging (MRI) findings consistent with AC undergoing physical therapy (PT) differs to those with AC in the absence of these MRI findings.

Patients And Methods: Between January 2012 and October 2012, a total of 30 patients (8 males, 22 females; mean age 55.6±12.

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.

TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families with homozygous loss-of-function mutations in TBK1.

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure (BMF). Tumor necrosis factor (TNF-α) blockade is the treatment of choice for the vasculopathy, but often fails to reverse refractory cytopenia. We aimed to study the outcome of hematopoietic cell transplantation (HCT) in patients with DADA2.

Computer Game Assisted Task Specific Exercises in the Treatment of Motor and Cognitive Function and Quality of Life in Stroke: A Randomized Control Study.

Objectives: Computer game assisted task specific exercises (CGATSE) are rehabilitation gaming systems (RGS) used in stroke rehabilitation to facilitate patient performance of high intensity, task based, repetitive exercises aiming to enhance neuroplasticity. CGATSE maybe an appealing option in home based rehabilitation of stroke patients, especially during the COVID-19 pandemic. This study aimed to determine the effects of CGATSE on hemiplegic arm-hand function, cognitive function and quality of life in stroke.

International Consensus for the Dosing of Corticosteroids in Childhood-Onset Systemic Lupus Erythematosus With Proliferative Lupus Nephritis.

Objective: To develop a standardized steroid dosing regimen (SSR) for physicians treating childhood-onset systemic lupus erythematosus (SLE) complicated by lupus nephritis (LN), using consensus formation methodology.

Methods: Parameters influencing corticosteroid (CS) dosing were identified (step 1). Data from children with proliferative LN were used to generate patient profiles (step 2).

Oral health status in children with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease. We aimed to investigate the oral health status and oral hygiene habits in children with FMF.

Methods: In this cross-sectional study, 199 children with FMF, aged between 3-18 years, were included.

Microbiome is not linked to clinical disease severity of familial Mediterranean fever in an international cohort of children.

Objectives: The severity of familial Mediterranean fever (FMF) may vary in different areas, suggesting a role for environmental factors. We analysed the composition of gut microbiota among children with FMF and healthy controls from Turkey and the USA and determined its effect on disease severity.

Methods: Children with FMF with pathogenic MEFV mutations and healthy controls from Turkey and the USA were enrolled.

Inflammation-related differentially expressed common miRNAs in systemic autoinflammatory disorders patients can regulate the clinical course.

Objectives: Systemic autoinflammatory diseases (SAIDs) are caused by the malfunctioning of the innate immune system factors. Clinical heterogeneity and undefined pathobiology are common phenomena among SAIDs. In this study, we aimed to assess the involvement of microRNAs in regulating these complex diseases.

Molecular Diagnosis of Monogenic Diabetes and Their Clinical/Laboratory Features in Turkish Children.

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey.

Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study.

Real-world data on MTX tolerance with regimens used in children versus adults.

Objective: Methotrexate (MTX) is one of the most commonly used disease-modifying anti-rheumatic drugs which can cause gastrointestinal side effects. MTX intolerance is defined as gastrointestinal and behavioral symptoms occurring before and after MTX administration. This study aims to evaluate and compare the frequency of methotrexate intolerance in adult and pediatric patients.

Wind of Change in the Treatment of Childhood-Onset Takayasu Arteritis: a Systematic Review.

Purpose Of Review: We lack evidence-based data for the treatment of childhood-onset Takayasu arteritis (c-TA) since it is a rare disease in children. In this systematic literature review, we aimed to evaluate the treatment choices in c-TA patients and integrate our experience for the treatment of our patients in the recent years/in the biologic era.

Recent Findings: We reviewed 24 articles addressing treatments of 413 c-TA patients.

Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Background: During the last decade, remarkable progress with massive sequencing has been made in the identification of disease-associated genes for AIDs using next-generation sequencing technologies (NGS). An international group of experts described the ideal genetic screening method which should give information about SNVs, InDels, Copy Number Variations (CNVs), GC rich regions. We aimed to develop and validate a molecular diagnostic method in conjunction with the NGS platform as an inexpensive, extended and uniform coverage and fast screening tool which consists of nine genes known to be associated with various AIDs.

Establishing core domain sets for Chronic Nonbacterial Osteomyelitis (CNO) and Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO): A report from the OMERACT 2020 special interest group.

Objective: A working group was established to develop a core domain set (CDS) for Chronic Nonbacterial Osteomyelitis (CNO) and Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) following the OMERACT filter 2.1.

Methods: A scoping review to identify disease-related manifestations was performed, followed by a special interest group (SIG) session at OMERACT2020 to begin the CNO/SAPHO CDS framework.

The role of vascular inflammation markers in deficiency of adenosine deaminase 2.

Objectives: The first objective was to assess the role of vascular inflammatory factors in the pathogenesis of deficiency of adenosine deaminase 2 (DADA2) and to compare these markers among DADA2 patients with different phenotypes. We also aimed to investigate differences between DADA2 patients with vasculitic features and classic polyarteritis nodosa (PAN) for the aforementioned markers.

Methods: The study included eighteen DADA2 patients, ten PAN patients, and eight healthy controls.

Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature.

Background: Serine/threonine kinase-4 (STK4) deficiency is an autosomal recessive combined immunodeficiency.

Objective: We aimed to define characteristic clinical and laboratory features to aid the differential diagnosis and determine the most suitable therapy.

Methods: In addition to nine STK4 deficiency patients, we reviewed 15 patients from the medical literature.

Spinal involvement in juvenile idiopathic arthritis: what do we miss without imaging?

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease of childhood. Enthesitis-related arthritis (ERA) has been one of the most controversial subtypes of JIA with a higher risk of axial involvement.  Our aim was to assess the frequency and spectrum of MRI findings of spine involvement in patients with JIA and determine if the axial involvement is always clinically symptomatic in patients with positive MRI findings.

Juvenile idiopathic arthritis: lymphocyte activation gene-3 is a central immune receptor in children with oligoarticular subtypes.

Background: We investigated the role of inhibitory receptors (IRs) and especially lymphocyte activation gene-3 (LAG-3) in the pathogenesis of oligoarticular juvenile idiopathic arthritis (o-JIA).

Methods: Paired samples of synovial fluid (SF) and plasma and peripheral blood (PBMCs) and synovial fluid mononuclear cells (SFMCs) were collected from o-JIA patients along with their clinical data (n = 24). Plasma from healthy controls (n = 14) and paired SF and plasma samples from five non-arthritic juvenile orthopedic patients (n = 5) served as controls.

Favipiravir use in children with COVID-19 and acute kidney injury: is it safe?

Background: The rising number of infections due to Severe Acute Respiratory Syndrome Coronavirus-2 (popularly known as COVID-19) has brought to the fore new antiviral drugs as possible treatments, including favipiravir. However, there is currently no data regarding the safety of this drug in patients with kidney impairment. The aim of this paper, therefore, is to share our experience of the use of favipiravir in pediatric patients affected by COVID-19 with any degree of kidney impairment.

MEASUREMENT AND ANALYSIS OF ELECTRIC AND MAGNETIC FIELD STRENGTH IN GRID-TIED PHOTOVOLTAIC POWER SYSTEM COMPONENTS.

In this study, electric field and magnetic field strengths at 50 Hz are measured in a solar power plant located far from residential areas, and the measurement results near various sources of the electric and magnetic fields in the power plant are presented. Although the measured values for the electric field caused by the solar panel range between 0.07 and 1.

Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.

Objectives: Combining of genomic data of different pathologies as a single phenotype has emerged as a useful strategy to identify genetic risk loci shared among immune-mediated diseases. Our study aimed to increase our knowledge of the genetic contribution to Kawasaki disease (KD) and IgA vasculitis (IgAV) by performing the first comprehensive large-scale analysis on the genetic overlap between them.

Methods: A total of 1190 vasculitis patients and 11 302 healthy controls were analysed.

IgG4-related disease in pediatric patients: a single-center experience.

Objective: Immunoglobulin G4-related disease (IgG4-RD) is a systemic, immune-mediated, and fibroinflammatory disease that can affect almost any organ system. We aimed to present our single-center experience of pediatric patients with IgG4-RD, a rare disease in children.

Methods: Pediatric patients diagnosed with IgG4-RD at the Hacettepe University between June 2014 and September 2020 were evaluated retrospectively.

The pyrin inflammasome aggravates inflammatory cell migration in patients with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by pathogenic variants of the MEFV gene, which encodes pyrin. Leukocyte migration to serosal sites is a key event during inflammation in FMF. The pyrin inflammasome is a multiprotein complex involved in inflammation.