Autoinflammatory Bone Diseases.

Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination.

Spontaneously regressing mass-like soft tissue involvement in a child with chronic non-bacterial osteomyelitis: case-based review.

Chronic non-bacterial osteomyelitis (CNO) is an inflammatory bone disease, usually diagnosed in childhood. It is characterized by the presence of multifocal or unifocal osteolytic lesions that can cause bone pain and soft tissue swelling. CNO is known to have soft tissue involvement.

Measuring Transition Readiness of Patients After Transfer from Pediatric to Adult Care in Rheumatology.

Transitional care is essential to maintain the continuity of care in younger patients with rheumatic diseases. In this study, we aimed to assess the transition readiness of rheumatology patients who had already transferred from pediatric to adult care using a questionnaire. We included young adult rheumatology patients who had already transferred to adult rheumatology care.

Evaluation of thyroid dysfunction in childhood-onset systemic lupus erythematosus: Risk factors for Hashimoto's thyroiditis.

Objective: Increased frequency of autoimmune thyroid disease, particularly Hashimoto's thyroiditis (HT) was reported several studies in the literature, in individuals with childhood-onset systemic lupus erythematosus (cSLE). Our study aimed to investigate the prevalence and contributing factors of thyroid dysfunction and HT among cSLE patients.

Methods: Thyroid function tests were obtained cross-sectionally from cSLE patients.

The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement.

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In this retrospective cohort study, we aimed to assess the effects of various MEFV genotypes on the clinical characteristics of the patients, with a special focus on the joint involvement. In total, 782 patients with FMF were categorized into 3 groups according to the MEFV mutation; Group 1: Patients homozygous for M694V; Group 2: Patients carrying other pathogenic MEFV variants in exon 10 in homozygous or compound heterozygous states; and Group 3: FMF patients with other variants or without mutations.

Long-term safety profile and secondary effectiveness of canakinumab in pediatric rheumatic diseases: a single-center experience.

Background: To demonstrate the long-term safety profile of canakinumab over a nine-year period by documenting adverse events in patients with various pediatric rheumatic diseases.

Research Design And Methods: This retrospective observational study was conducted at the Pediatric Rheumatology Department of Istanbul University Cerrahpasa between 2015 and 2023. The analysis concerned individuals who had been administered canakinumab treatment for at least six months.

COVID-19 vaccination rates and factors affecting vaccination in children with rheumatic disease.

Objectives: This study aimed to investigate coronavirus disease 2019 (COVID-19) vaccination rates and factors affecting vaccination in children with rheumatic diseases.

Patients And Methods: This multicenter cross-sectional survey-based study was conducted between July 2022 and September 2022. Four hundred seventy-four patients (256 females, 218 males; median age: 15 years; interquartile range, 13 to 16 years) were included in the patient group, and 211 healthy children (124 females, 87 males; median age: 15 years; interquartile range, 13 to 16 years) were included in the control group.

Health conditions of first-degree relatives of children with familial Mediterranean fever.

Background: Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study.

Methods: Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months.

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis on anti-interleukin-1 or -6 therapy.

Objectives: The aim of this study is to investigate the effect of anti-interleukin (IL)-1/-6 biologics on systemic juvenile idiopathic arthritis (sJIA)-associated macrophage activation syndrome (MAS).

Methods: Demographic, clinical and laboratory data of patients followed up with a diagnosis of sJIA-associated MAS assessed from sixteen paediatric rheumatology centres across the country. The clinical and laboratory features of MAS developing while on biological drugs were compared with those without this treatment.

Temporary Thyroid Dysfunction and Catecholamine Excess Due to Mercury Poisoning in 6 Cases.

Objective: Mercury poisoning is a condition with multiple-organ dysfunction that has effects on the central nervous system, gastrointestinal system, cardiovascular system, skin, lungs, and kidneys. It can be fatal or may result in sequelae such as neurological disturbances, if treated late or left untreated. The endocrinological effects of mercury exposure are not well-known.

Gray zone in the spectrum of autoinflammatory diseases: familial Mediterranean fever accompanying periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome: single-center experience.

Despite the advanced knowledge concerning autoinflammatory diseases (AID), more data regarding the optimal treatment options and outcomes of the children who met the criteria of more than one AID are required. This study aimed to describe the demographic and clinical characteristics of children from familial Mediterranean fever (FMF)-endemic countries who meet both the FMF and the periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome criteria. Moreover, we aimed to measure the response rates to colchicine and tonsillectomy and evaluate the factors affecting the colchicine response in these patients.

The impact of COVID-19 on clinical course and treatment among patients with juvenile systemic sclerosis.

Objectives: This study aimed to explore the influence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic among patients with juvenile systemic sclerosis (JSS).

Patients And Methods: Twenty-seven patients (22 females, 5 males; mean age: 20 years; range, 17 to 22 years) diagnosed with JSS and followed up at the department of pediatric rheumatology were included in the cross-sectional study. A web-based survey was performed by focusing on patients' complaints, accessibility to health care, and compliance with routine treatment from January 1, 2021, to January 10, 2021.

Ovarian reserve in children with juvenile idiopathic arthritis using biologic disease-modifying anti-rheumatic drugs.

Background/objectives: The aim of the study is to assess the effect of juvenile idiopathic arthritis (JIA) and biologic disease-modifying anti-rheumatic drugs (bDMARDs) on ovarian reserve in children.

Materials And Methods: A cross-sectional study was performed from March 2021 to March 2022 and included 81 patients with JIA and 49 healthy children. Serum anti-Mullerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol levels were analyzed using electrochemiluminescence methods.

The efficacy of a single-dose anakinra injection during disease attack in pediatric familial Mediterranean fever.

The aim of this retrospective study is to evaluate the efficacy of a single-dose anakinra during familial Mediterranean fever (FMF) attacks and its effect on the duration, severity, and frequency of attacks. The patients with FMF who had disease episode and received a single-dose anakinra during disease episode between December 2020 and May 2022 were included. Demographic characteristics, MEFV gene variants detected, concomitant medical conditions, demographics of recent and previous episodes, laboratory findings and length of hospital stay were recorded.

A score for predicting colchicine resistance at the time of diagnosis in familial Mediterranean fever: data from the TURPAID registry.

Objectives: Colchicine forms the mainstay of treatment in FMF. Approximately 5-10% of FMF patients are colchicine resistant and require anti-IL-1 drugs. We aimed to compare the characteristics of colchicine-resistant and colchicine-responsive patients and to develop a score for predicting colchicine resistance at the time of FMF diagnosis.

Type I Interferonopathies in Childhood.

Type 1 interferonopathy is a novel context reflecting a group of inborn disorders sharing common pathway disturbances. This group of diseases is characterized by autoimmunity and autoinflammation caused by an upregulation of type 1 interferons (IFN)s due to certain genetic mutations. Several features are common in most of the diseases in this group, such as vasculitic skin changes, including chilblains, panniculitis, interstitial lung disease, basal ganglion calcifications, neuromotor impairments, epilepsy, stroke, and recurrent fever.

Risk factors for coronary arterial involvement in Turkish children with Kawasaki disease: a multicenter retrospective study.

Background: Coronary arterial lesions (CALs) are the major component of Kawasaki disease (KD), associated with significant morbidity, which affect a substantial proportion of patients despite proper treatment. The aim of this study was to define the risk factors for CALs in Turkish children with KD.

Methods: Medical records of 399 KD patients from five pediatric rheumatology centers in Turkey were reviewed retrospectively.

Non-Rheumatic Chronic Comorbidities in Children with Juvenile Idiopathic Arthritis.

Objective: Juvenile idiopathic arthritis is a heterogeneous group of disorders and is the most common rheumatic condition in childhood. There are scarce data regarding all comorbidities in juvenile idiopathic arthritis patients.

Materials And Methods: We aimed to identify the non-rheumatic comorbidities in our juvenile idiopathic arthritis patients.

Long-term efficacy of tonsillectomy/adenotonsillectomy in patients with periodic fever aphthous stomatitis pharyngitis adenitis syndrome with special emphasis on co-existence of familial Mediterranean fever.

Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome is one of the most common autoinflammatory fever disorders in the childhood which may co-exists with familial Mediterranean fever (FMF) causing treatment complexity. As the role of surgery in PFAPA syndrome is still controversial, in this paper, our aim is to present our results of tonsillectomy/adenotonsillectomy in the treatment of PFAPA syndrome. Archives of a tertiary care hospital were investigated for patients who underwent tonsillectomy or adenotonsillectomy due to PFAPA Syndrome between 2010 and 2020.

A cursed goodbye kiss from severe acute respiratory syndrome-coronavirus-2 to its pediatric hosts: multisystem inflammatory syndrome in children.

Purpose Of Review: We aimed to summarize a novel disease called multisystem inflammatory syndrome in children (MIS-C), which develops several weeks after a severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) illness.

Recent Findings: Given the rarity of the disease, the question of why a minority of children develop MIS-C is not known. Certain intrinsic susceptibility factors in the host have been described.

NLRP3 gene variants and serum NLRP3 levels in periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome.

Objectives: Although most of the autoinfammatory disorders have a confirmed genetic cause, periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome still has an unknown genetic background. However, familial cases of PFAPA syndrome have been reported suggesting a genetic its basis. PFAPA syndrome may also be considered an infammasome disorder as variants in infammasome-associated genes such as CARD8, NLRP3, and MEFV have been reported to contribute to the disease.