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Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder, characterized by recurrent fever and serositis. It primarily affects individuals of Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The Mediterranean fever (MEFV) gene, responsible for FMF, was discovered in 1997. Biallelic pathogenic variants lead to excessive activation of the pyrin inflammasome, resulting in inflammation. Clinical manifestations include recurrent fever, abdominal pain, and joint involvement, with attacks typically lasting 12-72 hours. Diagnosis relies on clinical criteria and is supported by genetic testing. Colchicine is the primary treatment to reduce attack frequency and prevent the complications like renal amyloidosis. Despite advancements in understanding FMF, including its genetic basis and treatment options, challenges remain in distinguishing it from other autoinflammatory diseases. Co-existing conditions such as juvenile idiopathic arthritis and inflammatory bowel disease are common among FMF patients. Ongoing research should aim to clarify the development of the disease, enhance diagnostic accuracy, and address its clinical presentation and genetic variability, with a focus on identifying new genetic mutations and epigenetic factors that contribute to its pathogenesis.

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. Clinical and demographic findings were compared between groups. Among the 782 FMF patients, total frequency of arthritis was 237 (30.3%): 207 (26.4%) were acute monoarthritis and 67 (8.5%) were chronic arthritis. Both the frequency of arthritis (acute and/or chronic) (40.4% vs. 24.8% vs. 26.7%; p:0.001) and acute monoarthritis (35.4% vs. 20% vs. 23.7%; p:0.001) were significantly higher in Group 1 than in the other groups. FMF patients with chronic arthritis showed a distinct juvenile idiopathic arthritis (JIA) distribution pattern with a more frequent enthesitis-related arthritis (ERA) subtype (43.2%). HLA-B27 was positive in 24% of the ERA patients.Conclusion: Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritis comparing to other MEFV genotypes. In addition, the risk of chronic arthritis seems not related to the MEFV mutations. However, FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA and undifferentiated arthritis subtype. What is known: • Homozygous M694V mutation is associated with a more frequent and longer acute monoarthritis What is new: • FMF patients with chronic arthritis show a distinct ILAR JIA distribution pattern with a more frequent ERA subtype • ERA patients with negative HLA-B27 antigen should also be assessed for polyserositis episodes of FMF, especially in countries with high FMF carrier frequency., (© 2024. The Author(s).)

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. Demographic, clinical, and laboratory characteristics and activity scores were collected from medical records. Patients diagnosed with cSLE were compared to the healthy control group for the frequency of thyroid dysfunction. The Mann-Whitney U, independent samples t test, and the Chi-square or Fisher's exact test were used to compare study groups. A p -value below 0.05 was considered statistically significant., Results: Out of 73 cSLE patients, 14 (19.1%) had subclinical hypothyroidism, 9 (12.3%) had clinical hypothyroidism, 12 (16.4%) were diagnosed with HT, and 12 (16.4%) had a family history of HT. Thyroid USG was performed in 5 euthyroid patients and 1 borderline subclinical hypothyroid patient with positive thyroid autoantibody and reported as diffuse heterogeneous echogenicity enlargement in the thyroid gland. There were no significant differences in clinical and laboratory data or medication used between the groups with and without HT; however, patients with HT had a higher frequency of clinical hypothyroidism and family history of HT. Cumulative prednisolone dose was significantly lower in patients diagnosed with HT. The frequency of HT was considerably higher in patients with cSLE compared to the healthy control group., Conclusion: The results demonstrate an increased incidence of HT in cSLE patients, even if they are euthyroid, and recommend that cSLE patients be screened more frequently., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: It is aimed to evaluate the effect of maxillary sinus elevation with lateral antrostomy approach on mucociliary functions using the saccharin test., Methods: The study was planned prospectively. 29 patients who underwent maxillary sinus elevation were included in the study. The age and gender information of the patients were noted. Saccharin test was performed in the nasal cavity on the operated side. Mucociliary functions were evaluated with the results of the saccharin test performed before the operation and the saccharin test results at the 1st week, 1st month, and 3rd month postoperatively. Comparisons were made with these values., Results: The mean age of the patients was 42.10 ± 4.99 years. Of the patients, 14 (48.3%) were female and 15 (51.7%) were male. Preoperative saccharine test results were found to be significantly lower than the postoperative values. As the postoperative recovery period increased, a significant decrease was observed in the saccharin test results. However, preoperative values were within normal limits, while postoperative values were above the normal range., Conclusions: In our study, it was observed that mucociliary functions improved as the postoperative period increased in patients who underwent maxillary sinus elevation, but were still above normal limits., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type I interferonopathy. Our secondary goal was to identify the predictors of long-term morbidity or mortality., Methods: We included children with genetically confirmed type I interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records., Results: Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (range 0.1-13.2 yrs). They were diagnosed at an average age of 6.8 (SD 4.6) years. Aicardi-Goutières syndrome was the most common diagnosis (n = 15, 37.5%). The central nervous system was the most frequently affected system (n = 27, 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least 1 permanent morbidity or died during follow-up; thus, they were included in the poor outcome group. Although younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute-phase reactants were significant in univariate logistic regression analysis, only ICC on magnetic resonance imaging at admission (adjusted odds ratio 19.69, 95% CI 1.08-359.05, P = 0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis., Conclusion: For the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes. Further, our study's unique patient characteristics can provide valuable insights into these extremely rare conditions.

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. The exposure-adjusted event rates were calculated as adverse events per 100 patient days and were compared among three groups based on the cumulative canakinumab dose of <35 mg/kg, 35-70 mg/kg, and >70 mg/kg., Results: Among 189 patients, the median exposure time to canakinumab was 2.9 (1.5-4.1) years, corresponding to 573.4 patient years. The median cumulative dose of canakinumab was 2205 (1312-3600) mg. The most common adverse event was upper respiratory tract infection (0.76), followed by urinary tract infection (0.02), pneumonia (0.009), latent tuberculosis (0.009) and lymphadenitis (0.004). A total of 55 serious adverse events (0.025) were reported, 12 (0.006) of which led to drug discontinuation. The event rate of macrophage activation syndrome and disease exacerbation was statistically higher in patients receiving <35 mg/kg cumulative canakinumab dose ( p  < 0.05)., Conclusions: An increase in side effect was not observed with the increasing cumulative doses of canakinumab. Canakinumab demonstrated long-term safety with appropriate indication and monitoring.

Background: Postoperative supplemental maintenance following mandibular third molar surgery remains an area of interest., Purpose: Topical agents can modulate inflammatory processes. The aim of the present study was to determine if topical application of arnica or mucopolysaccharide polysulfate (MPSP) reduces pain, trismus, and edema following the removal of impacted mandibular third molars., Materials and Methods: A single center randomized controlled clinical trial was conducted. The patients were randomized into three groups: the control group (standard therapy [ST]: antibiotic + nonsteroidal anti-inflammatory drugs twice a day), the arnica group (arnica + ST), and the MPSP group (MPSP + ST). The patients' pain, trismus, and edema values were measured preoperatively and on postoperative days 1, 3, 5, and 10. Sex, age, and operation time were also included. Analyses included descriptive statistics, analysis of variance, post hoc tests, and determinations of intraclass correlation coefficients. Statistical significance was set at P < .05., Results: Sixty patients with a mean age of 26.98 ± 10.88 years were included in the study; 55% were females and 45% were males. The mean operation time was 23.8 ± 3.27 minutes. According to the visual analogue scale scores (in centimeter units), the arnica and MPSP groups felt less pain than the control group until day 5 (0.6 ± 0.88, 3.75 ± 1.16, 4.75 ± 1.29, and 1.05 ± 1.10, respectively, for the arnica group; 0.35 ± 0.59, 3.25 ± 1.62, 5.0 ± 1.65, and 1.50 ± 1.32 for the MPSP group; and 1.30 ± 1.17, 5.75 ± 1.37, 7.05 ± 1.10, and 3.15 ± 1.53 for the control group; P < .05). The trismus was lower on days 1, 3, and 5 in the arnica group (-8.05 ± 2.82, -12.15 ± 3.1, and -2.15 ± 1.81, respectively) than in the control group (-12 ± 3.82, -15.65 ± 4.81, and -4±2.81, respectively) (P < .05). The edema was lower on days 1 and 3 in the MPSP group (0.95 ± 2.2 and 1.75 ± 3.7, respectively) than in the control group (2.45 ± 0.9 and 3.6 ± 0.8, respectively) (P < .05). Arnica and MPSP had similar pain-relieving action, but arnica was more effective at reducing trismus, while MPSP was more effective at reducing edema., Conclusions: Topical application of arnica or MPSP may have a beneficial effect on relieving pain 5 days after surgery, but arnica was also effective at reducing trismus, while MPSP was also effective at reducing edema. Both arnica and MPSP reduced postoperative sequelae., (Copyright © 2023 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.)

Objective: To reveal the vaccination status of patients with pediatric rheumatic disease (PedRD) and to compare this with healthy controls., Methods: The electronic health records of the Ministry of Health regarding the vaccination status of children with PedRD followed in a tertiary hospital were analyzed cross-sectionally and compared with their healthy controls. The missing vaccines were reported according to individual, age-appropriate schedule and causes of skipped vaccines in both groups were investigated with an online survey., Results: The vaccination rate of patients in the last examination was 71.4% (90/126) and 95.7% (110/115) in healthy controls ( p  < 0.001). Measles-mumps-rubella vaccine, diphtheria, the administration rates of the second dose of tetanus-acellular pertussis-inactivated polio and Haemophilus influenzae type B, chickenpox, and hepatitis A vaccines were significantly lower in patients than in controls ( p values 0.004, 0.02, 0.01, 0.013, respectively). The pre-diagnosis incomplete vaccination proportion was significantly higher in the patient group (16.6%) than in healthy controls (4.3%) ( p  = 0.002). In the patient group, the proportion of incomplete live-attenuated vaccines after diagnosis (25%) was more than pre-diagnosis (61.1%) ( p  = 0.04), while the proportion of incomplete non-live vaccines before and after diagnosis was similar (47.2% and 50%, respectively) ( p  = 0.73). The major reasons for missed vaccines were physicians' recommendations (15.6%), the presence of PedRD diagnosis (12.5%), and the drugs used (12.5%)., Conclusion: Vaccination coverage of PedRD patients has been shown to lag behind the routine vaccination schedule (71.4%). In addition to new recommendations, electronic health system records for vaccination may be appropriate for the follow-up of these patients, and the addition of reminder alerts may be useful to reduce the rate of missed vaccinations.

Objective: The aim of this study was to investigate the effects of root-end filling after periapical surgery on the fractal dimension (FD) of the periapical bone., Methods: Thirty-eight patients who underwent periapical surgery were included in this study. The cases were divided into two subgroups: (1) In the gutta-percha group, root cavity and root-end fillings were not performed after root resection. In this group, there were 14 female patients and 6 male patients. (2) In the mineral trioxide aggregate (MTA) group, the root end was filled with MTA after root resection. In this group, there were 13 female patients and 5 male patients. Each patient underwent two periapical radiographs, one shortly after periapical surgery (10-15 days) and another one 1 year after periapical surgery. Regions of interest (ROIs) located close to the infected root apex were selected for each radiograph. Periapical radiographs were digitized and processed with an FD analysis using the box-counting method., Results: FD was significantly increased in both groups over time (p < 0.05). The increases in FD between groups were not significant (p > 0.05)., Conclusions: Mathematical morphology combined with the box-counting method showed that the FD change was independent of the root-end filling at the 1-year follow-up after periapical surgery., Clinical Relevance: Because of the complex anatomy of the root canal, orthograde endodontic treatment may be inadequate and periapical surgery becomes an alternative in these cases. In this study, the effect of root-end filling on the increase in trabecular bone after periapical surgery was investigated using fractal analysis.

Human papilloma virus (HPV) infections of the oral mucosa presents with various clinical and histopathologic features in relation with the causative HPV type and chronicity and the extent of the infection.1 The entity is known by several names based on histopathologic variations such as focal epithelial hyperplasia, oral florid papillomatosis, verrucous hyperplasia, oral florid verrucosis, and Ackerman's tumor. In recent years, the term multifocal papillomavirus epithelial hyperplasia (MPVEH) has been proposed to define the variant that usually occurs in childhood and is characterized by diffuse confluent papillomatous lesions in the oral mucosa.1 Despite the lesions' benign appearance, early diagnosis and therapy of MPVEH is essential because of its high capacity for progression and its tendency for malign degeneration.