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IntroductionSLE is a chronic autoimmune disease characterised by multisystem involvement and fluctuating clinical course, often leading to permanent organ damage. Childhood-onset SLE (cSLE) tends to be more aggressive with increased organ involvement compared with adult-onset SLE. Despite advances in treatment, there is a rising incidence of morbidity and chronic damage in cSLE patients. This study aims to evaluate the patterns of damage and identify risk factors associated with damage accrual in a cohort of cSLE patients.Materials and methodsWe conducted a retrospective cohort study of 120 patients meeting the Systemic Lupus International Collaborating Clinics 2012 criteria for cSLE, followed by the paediatric rheumatology clinic from 2004 to March 2023. After excluding 18 patients for monogenic lupus or inadequate follow-up, 102 patients were analysed. Damage accrual was assessed using the Paediatric Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (PedSDI) and associations between clinical, laboratory and demographic variables with damage accrual were evaluated using univariate and multivariate analyses.ResultsThe mean age at diagnosis was 12.9 years, with a mean disease duration of 6.3 years. At the end of the study, 33.3% of patients had accrued damage (PedSDI≥1). The most frequently involved domains were growth failure (24%), renal (11.8%), neuropsychiatric (8.8%) and mucocutaneous (5.9%). Multivariate analysis revealed that higher median SLE Disease Activity Index-2000 scores, haemolytic anaemia and renal involvement were independent risk factors for damage accrual.ConclusionsOur study confirms that higher median disease activity over time, haemolytic anaemia and renal disease are significant predictors of long-term damage in cSLE. Additionally, growth failure was the most frequently involved domain in PedSDI, followed by renal and neuropsychiatric domains. These findings underscore the importance of early and effective disease management and regular monitoring for these risk factors.

ObjectiveTo determine the feasibility and risk of flares by achieving successful glucocorticoid (GC) tapering during the first year of juvenile SLE and the value of early achievement of childhood lupus low disease activity state (cLLDAS).MethodsThe medical charts of children with moderate-to-severe SLE between 2012 and 2022 were retrospectively analysed. Successful tapering was defined as the employment of a prednisolone equivalent dose, lower dose of either ≤7.5 mg/day or ≤0.15 mg/kg/day, as per the cLLDAS definition. A linear mixed-effects model was used to determine the fixed effects affecting the GC dose over the first year. Cox regression analysis was used to identify whether successful tapering increased the risk of flares, and logistic regression was used to determine the odds of flares after the twelfth month of treatment.ResultsSuccessful GC tapering was observed in 50 out of 80 patients (62.5%) within the first year of treatment, and flares were observed in 23 (28.8%) patients. The GC tapering trajectories over time were similar based on flare observations (p>0.05). Furthermore, successful tapering did not increase the risk of flares. Additionally, patients without flares received significantly higher GC doses as the initial treatment (p=0.046). Achievement of cLLDAS was observed in 40 (50%) patients at the twelfth month; however, achievement was not protective against future flares, and positive anti-double-stranded DNA antibodies at the twelfth month increased the odds of flares (OR: 4.8, p=0.008).ConclusionSuccessful GC tapering is feasible and does not increase the risk of flares during the early disease phase. However, flares are common and adversely affect GC tapering. Thus, the identification of children with an increased risk of flares on GC tapering is needed to reduce the GC burden.

Hydatid cyst is an endemic disease in several regions of the world. Renal involvement is rare. Association with kidney stones is even less likely. We report a case with isolated renal hydatid disease mimicking a non-opaque kidney stone.

Early detection of cardiac involvement in Juvenile Dermatomyositis (JDM) is difficult due to the absence of clinical signs and symptoms, with systolic dysfunction often emerging in late stages and associated with a poor prognosis. This study aimed to employ two-dimensional speckle-tracking echocardiography (STE) for subclinical assessment of left ventricular (LV) systolic failure in JDM and explore potential associations between impaired LV systolic function (LV-GLS) and disease activity. A prospective study enrolled 20 healthy volunteers and 26 JDM patients (< 18 years old) without cardiac symptoms. Clinical data were collected from medical records, and echocardiograms were conducted by a pediatric cardiologist. Our study cohort demonstrated similar age to controls (13.5 ± .6 vs. 13.8 ± 4.7; p = 0.465). Median illness duration at echocardiography was 5 (1.5–17.5) years, and conventional echocardiography indicated normal LV ejection fraction (> 55%) in all participants. However, STE revealed lowered LV GLS in JDM patients (− 22.2 ± 4.1% vs. − 26.5 ± 5.3% p = 0.022). Pulse steroid users displayed lower GLS average values compared to non-users (β = 4.99, 95% CI 1.34–8.64, p = 0.009). Negative correlations existed between LV-GLS and age at diagnosis (r = − 0.499; p = 0.011), diastolic parameters (E/E′ ratio) and age at diagnosis (r = − 0.469; p = 0.018), as well as RV global strain and age at diagnosis (r = − 0.443; p = 0.024). Employing STE in JDM patients facilitated the identification of preclinical cardiac dysfunction. Given JDM patients' younger age, early myocardial damage detection through STE may impact treatment decisions and long-term cardiovascular prognosis.

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

PurposeWe aimed to compare the success rate of spermatozoa retrieval through microscopic testicular sperm extraction (mTESE) in non-obstructive azoospermic (NOA) men with a solitary testis with that of mTESE in NOA men with bilateral testes and the parameters affecting these rates.MethodsA retrospective cross-sectional study of factors contributing to infertility in NOA patients with a solitary testis and men with bilateral testes was carried out. In this multicenter study, 74 patients with NOA with a solitary testis were matched with 74 patients with bilateral testes in terms of age, duration of infertility, and volume of the solitary testis from 2770 patients with NOA with bilateral testes. Hormonal parameters, presence of varicocele, history of varicocelectomy, history of undescended testis and karyotype analysis results were compared.ResultsSpermatozoa were obtained from 40 (54.1%) patients with a solitary testis and 42 (56.76%) patients with bilateral testes. No differences were found regarding age, duration of infertility, or mean testicular volume between patients with a solitary testis and patients with bilateral testes. When serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were compared regardless of sperm retrieval status, it was observed that both levels were greater in the group of patients with a solitary testis (p < 0.01). Patients with solitary and bilateral testes from whom spermatozoa were obtained had larger testes than those from whom spermatozoa could not be obtained (p < 0.05). Similarly, the serum levels of FSH and LH were significantly greater in patients with a solitary testis than in those with bilateral testes (p < 0.05).ConclusionsTo the best of our knowledge, this is the first study in the literature to evaluate the parameters that influence mTESE outcome in NOA patients with a solitary testis and NOA patients with bilateral testes. Greater testicular volume was found to positively affect spermatozoa retrieval for patients with a solitary testis. The higher levels of FSH and LH in patients with a solitary testis than in patients with bilateral testes of similar testicular volume may be due to a compensatory mechanism developed by the hypothalamic–pituitary–gonadal axis. The fact that these hormones are higher in patients with a solitary testis does not mean that the number of spermatozoa obtained through mTESE will be decreased.

Hydatid cyst is an endemic disease in several regions of the world. Renal involvement is rare. Association with kidney stones is even less likely. We report a case with isolated renal hydatid disease mimicking a non-opaque kidney stone. Keyword: Cystic hydatid, Kidney stone, Treatment Kist hidatik dünyanin çesitli bölgelerinde endemik hastalik olarak görülmektedir. Bununla birlikte sadece böbrek tutulumu nadirdir. Böbrek tasi ile birlikteligi ise son derece enderdir. Biz nonopak böbrek tasini taklit eden izole renal kist hidatik olgusunu sunmaktayiz. Anahtar Kelimeler: Kist hidatik, Böbrek tasi, Tedavi

Objective This survey-based study aimed to explore the journey to the diagnosis and management of children with pediatric onset Still’s disease (PoSD) in Türkiye. This sought to understand parents’ perceptions, feelings, and expectations, enabling the identification of unmet needs and fostering improvements in PoSD care. Methods A 42-question survey was administered to patients (< 21 years) with PoSD or their parents (the primary caregiver of each child younger than middle school age) by pediatric rheumatologists, during their clinic visits between January and May 2024. Data were descriptively analyzed. Results The study included 39 children (mean age: 9.92 ± 4.93 years; 66.7% female). Ten children and 29 parents completed the survey. Persistent fever (84.6%), swollen joints and rash (64.1% each) were the most common initial manifestations. No patient received the diagnosis of PoSD at their initial visit: two-thirds were referred to other physicians and one-third were misdiagnosed, primarily with other inflammatory conditions (15.4%) and infections (12.8%). The median diagnostic delay was 1 (1–4) months. At the time of the survey, 21 patients (53.8%) had been receiving biologics (monthly (n = 10), bimonthly or weekly (n = 5, each) injections); 19 patients were compliant with this treatment. Seven patients (17.9%) had used biologics in past. PoSD substantially affected psychological well-being (33.3%) and daily tasks (13%). Fifteen of 26 school-age children missed school for a mean of 17.7 ± 15.9 days/year due to PoSD. Most parents (90%) had not heard of PoSD at the time of diagnosis. Overall, 28% of parents hardly accepted the diagnosis. PoSD worsening in the future was their main concern (68.9%). The parents’/patients’ primary expectation was to achieve a cure (82.1%). The main sources of information for parents were the physicians treating their children (96.6%), internet (72.4%) and other patient relatives (20.7%). Conclusion This survey of the PoSD patient journey in Türkiye identified several areas of improvement for better disease management. It underscores the need for enhanced continuous medical education for physicians and parental awareness of PoSD, higher access to credible information resources, and greater parental engagement in activities organized by pediatric rheumatology associations. Collecting quantitative and qualitative data on various aspects of PoSD could further refine approaches to optimize patient care.

Background. We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF). Methods. This retrospective study included patients under 18 years of age, diagnosed with MKD and followed for at least six months at the pediatric rheumatology department of Istanbul University - Cerrahpaşa Medical Faculty between 2016 and 2024. Results. Of 33 patients, 51.5% were female, with a median age of symptom onset at 6 (2-17.3) months. Eight patients had a history of tonsillectomy, and seven exhibited an underlying exon 10 Mediterranean FeVer (MEFV) gene mutation. The mean diagnostic delay was 67.6 months, which was longer for those with exon 10 mutations (95.0 months) and those with a history of tonsillectomy (99.5 months). The median duration of attacks was 5 (4-7) days. The median frequency of attacks was 12 (10-24) per year. The most prevalent clinical findings observed during these attacks included malaise (87.8%), arthralgia (69.6%), abdominal pain (63.6%), cervical lymphadenopathy (63.6%), diarrhea (54.5%), and maculopapular rash (51.5%). A total of 30 patients (90.9%) identified pre-attack triggers. Among the patients evaluated, 19 (57.5%) were homozygous for V377I, and 7 (21.2%) had V377I biallelic heterozygous mutation in MVK gene. Cytopenia was observed in 18 patients (54.5%) during episodes, including anemia (39.3%), lymphopenia (24.2%), leukopenia (12.1%), and neutropenia (9%). Conclusions. Patients presenting with periodic fever suggestive of FMF who exhibit atypical features should be evaluated for MKD. Further genetic testing should be performed when atypical clinical findings are present, even in those carrying pathogenic variants in exon 10 of the MEFV gene.