Metabolic acidosis and sexual dysfunction in chronic kidney disease in predialysis group: Cross-sectional study from a single center.

OBJECTIVES: This study aimed to investigate the prevalence of sexual disorders in stage 2 - 5 chronic kidney disease (CKD) during predialysis and its relationship with laboratory parameters. METHODS AND RESULTS: This cross-sectional study included 110 predialysis patients and 110 healthy controls admitted to clinics. The International Index of Erectile Function (IIEF) and Female Sexual Function Index (FSFI) were used. Sexual dysfunction was detected in 76% of female patients and 31.4% of the control group, and the FSFI total and subscale scores of the patients were significantly lower than those of the control group. The frequency of erectile dysfunction in male patients and controls was 56.7% and 33.3%, respectively. The erectile function, sexual satisfaction, and overall satisfaction scores on the IIEF scale were significantly lower than those in the control group. Low glomerular filtration rate, high calcium levels, increased C-reactive protein, anemia, and metabolic acidosis in male and female patients, and testosterone deficiency in male patients were associated with sexual dysfunction. In multiple regression analysis, eGFR was the only independent variable associated with sexual dysfunction. Luteinizing hormone (LH) and prolactin levels increased as the disease progressed in men and women with sexual dysfunction, while testosterone levels decreased in male patients. Low testosterone levels were related to erectile dysfunction. The increase in parathormone and prolactin levels was related to loss of libido in the male and female patient groups. CONCLUSION: Metabolic acidosis and low eGFR appear to be the most important risk factors contributing to sexual disorders in patients with CKD.

Investigation of the effect of task-oriented occupational therapy on daily living activity performance in chronic stroke patients.

Objective: Task-oriented therapy (TOT) is used to increase the effectiveness of upper extremity (UE) in activity daily living (ADL). This study aimed to investigate the effect of TOT on the participation and ADLs of stroke patients. Methods: Between October 2018 and February 2019, 28 chronic stroke patients were included in the study treated in Kocaeli University Hospital, Department of Physical Medicine and Rehabilitation, Turkey. The performance areas and participation status of the patients in which they experienced limitations were evaluated with the Canadian Occupational Performance Scale (COPM), and their level of independence in ADLs was evaluated with the Modified Frenchay Activity Index (mFAI) and Barthel Index (BI). All patients were included in the occupational therapy (OT) program five days a week for three weeks at Kocaeli University Hospital. Three ADLs in which they had difficulties were studied with 28 patients. Each of the activities was designed specifically for the patient. All assessments were repeated after three weeks of treatment. Results: A total of 28 patients, 12 females and 16 males, diagnosed with stroke, were included in the study. A statistically significant increase was found in the COPM performance and satisfaction value compared to the pre-treatment value (p<0.001). A statistically significant difference was found between pre- and post-treatment mFAI and BI values (p<0.001). Conclusions: Adding task-oriented therapy to the rehabilitation programs of stroke patients will contribute to the improvement of ADL.

The holistic approach to the CHRNA7 gene, hsa-miR-3158-5p, and 15q13.3 hotspot CNVs in migraineurs.

Migraine is a neurological disease characterized by severe headache attacks. Combinations of different genetic variations such as copy number variation (CNV) in a gene and microRNA (miRNA) expression can provide a holistic approach to the disease as a pathophysiological, diagnostic, and therapeutic target. CNVs, the Cholinergic Receptor Nicotinic Alpha 7 Subunit (CHRNA7) gene, and expression of gene-targeting miRNAs (hsa-miR-548e-5p and hsa-miR-3158-5p) in migraineurs (n = 102; with aura, n = 43; without aura, n = 59) and non-migraines (n = 120) aged 15-60 years, comparative, case-control study was conducted. Genetic markers were compared with biochemical parameters (BMI, WBC, Urea, GFR, ESR, CRP, HBG). All analyzes were performed by quantitative Real-Time PCR (q-PCR) and fold change was calculated with the 2-ΔΔCT method. The diagnostic power of the CHRNA7 gene, CNV, and miRNAs were analyzed with the receiver operating curve (ROC). CHRNA7 gene and hsa-miR-3158-5p are down-regulated in migraineurs and the gene is controlled by this miRNA via CNVs (p < .05). Both deletion and duplication were detected in patients with migraine for CVN numbers (p = .05). The number of CNV deletions was higher than duplications. When CHRNA7-CNV-hsa-miR-3158-5p was modeled together in the ROC analysis, the area under the curve (AUC) was 0.805, and the diagnostic power was "good". In migraineurs, the CHRNA7 gene can be controlled by hsa-miR-3158-5p via CNVs to modulate the mechanism of pain. These three genetic markers have diagnostic potential and may be used in antimigraine treatments.

Thirst intensity survey in ADPKD patients.

INTRODUCTION: With increased fluid intake and tolvaptan treatment, the growth rate of cysts can be theoretically decelerated in autosomal polycystic kidney disease. In this prospective study, it was planned to evaluate thirst sensation in these patients and the parameters affecting its intensity. METHODS: Forty-one ADPKD patients on tolvaptan and 40 ADPKD patients not on tolvaptan as the control group were evaluated for thirst distress sensation and intensity. The feeling of thirst and the discomfort caused by excessive fluid intake was assessed with Thirst Distress Scale-HF 12 questions (60/12). Thirst intensity was evaluated with a 100 mm visual scale. RESULTS: Of the whole group, 35.8% (29) were males, and 64.2% (52) were females. The mean age of the tolvaptan group was 39.17 ± 9.35 years and for the control group, it was 41.95 ± 12.29 years. There was a negative correlation between the thirst distress score of the patients and an increase in creatinine level after a year of tolvaptan treatment (r = - 0.335, p = 0.035). The patients not taking thiazide had higher thirst intensity scores (p = 0.004). There was no impact of tolvaptan dosage, total kidney volume, serum sodium, urinary osmolarity or eGFR on thirst distress and thirst intensity scores. DISCUSSION/CONCLUSION: Only thiazide co-treatment had a positive impact on thirst distress and intensity when given tolvaptan. Thirst Distress Scale for ADPKD patients can be used to classify patients before and during tolvaptan treatment.

Investigation of CD56, ADAM17 and FGF21 Expressions in the Placentas of Preeclampsia Cases.

Objective: In the present study, we investigated the expression of CD56, ADAM17 and FGF21 antibodies (Ab), which we think have an effect on the pathophysiology of preeclampsia (PE), in pregnant patients with healthy placentas and placentas with PE. The expression of these antibodies has been investigated in a limited amount of former research, but their role in PE has not yet been clarified. With this study, we aimed to contribute to the elucidation of the pathophysiology of PE and the detection of new target molecules for treatment. Materials and Methods: Parturients with singleton pregnancy at 32 weeks or above without any maternal or fetal pathology who were admitted to the Department of Obstetrics and Gynecology, Zonguldak Bülent Ecevit University Practice and Research Hospital between 11 January 2020 and 7 January 2022 were included in the present study. Pregnant women with coexisting disease or a pathology related to the placenta (ablation placenta, vasa previa, hemangioma, etc.) were excluded. CD56, ADAM17 and FGF21 antibodies were histopathologically and immunohistochemically detected in 60 placentas with PE (study group) and 43 healthy placentas (control group). Results: CD56, ADAM17 and FGF21 proteins were all more intensely expressed in preeclamptic placentas and a statistically significant difference was found between the two groups for all three antibodies (p < 0.001). Deciduitis, perivillous fibrin deposition, intervillous fibrin, intervillous hemorrhage, infarct, calcification, laminar necrosis and syncytial node were found to be significantly more common in the study group (p < 0.001). Conclusions: We observed that CD56, ADAM17 and FGF21 expressions increased in preeclamptic placentas. These Ab may be responsible for the pathogenesis of PE, which can be illuminated with further studies.

Macular and peripapillary vessel density alterations in a large series of patients with systemic lupus erythematosus without ocular involvement.

PURPOSE: The aim of this study was to investigate changes in both macular and peripapillary retinal microcirculation in the subclinical period of systemic lupus erythematosus (SLE) patients and to assess the relationship of these changes with disease activity, damage index, renal involvement, and use of hydroxychloroquine (HCQ). METHODS: Sixty eyes of 60 SLE patients and 60 age-matched, healthy controls were evaluated with optical coherence tomography angiography (OCTA). Vessel densities, structural parameters, and foveal avascular zone (FAZ) assesments were made. RESULTS: There was no significant correlation between activity and damage index and all regions of both superficial (SCP-VD) and deep capillary plexus vessel densities (DCP-VD) in the SLE group. There were no significant difference between groups in terms of FAZ, structural parameters, and radial peripapillary capillary vessel densities (RPC-VD). The mean SCP-VD and DCP-VD of most regions showed a significant decrease in the SLE group, except for parafovea superior and parafovea temporal. The decrease in vessel density (VD) in the perifoveal regions of DCP-VD in SLE patients was remarkable. DCP-VD showed good specifity and sensitivity in detecting vascular changes in SLE patients with whole image area under the curve (AUC) = 0.671, p < 0.001, odds ratio (OR) = 0.909, p = 0.009, and perifovea AUC = 0.671, p < 0.001, OR = 0.918, p = 0.012. Similarly, the SCP-VD whole image AUC = 0.609, p = 0.037, and OR = 0.825, p = 0.018 and perifovea AUC = 0.608, p = 0.037, and OR = 0.918, p = 0.012. The DCP-VD of perifovea superior showed a diagnostic accuracy for discrimination between SLE patients with and without nephritis (AUC = 0.671, p = 0.016). The SCP-VD and cumulative dose of HCQ demonstrated significant negative correlation in the SLE group (whole image, r = - 0.332, p = 0.010). CONCLUSIONS: SLE patients without ocular involvement had vascular changes that were particularly evident in the DCP and primarily in the perifovea. The perifovea superior of DCP had diagnostic utility in patients with nephropathy.

Neonatal Tactile Stimulation Downregulates Dendritic Spines in Layer V Pyramidal Neurons of the WAG/Rij Rat Somatosensory Cortex.

Objective: The aim of our study is to examine the effects of neonatal tactile stimulations on the brain structures that previously defined as the focus of epilepsy in the Wistar-Albino-Glaxo from Rijswijk (WAG/Rij) rat brain with genetic absence epilepsy. Methods: In the present research, morphology and density of dendritic spines were analyzed in layer V pyramidal neurons of the somatosensory cortex (SoCx) of WAG/Rij rats (nonstimulated control, tactile-stimulated, and maternal separated rats) and healthy Wistar (nonepileptic) rats. To achieve this, a Golgi-Cox method was used. Results: Dendritic spine number in layer V of the SoCx has been detected significantly higher in adult WAG/Rij rats at postnatal day 150 in comparison to nonepileptic adult control Wistar rats (p < 0.001). Moreover, quantitative analyses of dendrite structure in adult WAG/Rij rats showed a decrease in dendrite spine density of pyramidal neurons of SoCx which occurred in early neonatal exposure to maternal separation (MS) and tactile stimulation (TS) (p < 0.001). Conclusions: Our findings provide the first evidence that tactile stimulations during the early postnatal period have a long-term impact on dendrite structure in WAG/Rij rat's brain and demonstrate that neonatal tactile stimulation can regulate dendritic spines in layer V in pyramidal neurons of SoCx in epileptic brains.

The effects of metformin, pioglitazone, exenatide and exercise on fatty liver in obese diabetic rats: the role of IRS-1 and SOCS-3 molecules.

BACKGROUND: Obesity-induced inflammation mechanism is seen as a mechanism that may be the cause of insulin resistance and non-alcoholic fatty liver disease (NAFLD). Pathological destruction of insulin signaling molecules such as insulin receptor substrate proteins (IRS), especially due to the increase of cytokine signal suppressors (SOCS), has been demonstrated in experimental diabetes. The aim of this study was to determine the effects of metformin, pioglitazone, exenatide and exercise treatments used in type 2 diabetes on fatty liver and the role of Irs-1 and Socs3 molecules in this process in obese diabetic rats. METHODS: The study was conducted on 48 Wistar albino adult male rats weighing 180-220 g and randomly divided into 6 groups. The obese rat model with fatty liver was formed with a 60% fat diet for 4 weeks. Afterwards, drug treatment with metformin (Ob + D + M), pioglitazone (Ob + D + P), exenatide (Ob + D + ExA)) or exercise (Ob + D + ExE) was applied for 4 weeks to these obese groups, in which diabetes was induced by streptozocin (STZ). At the end of the experimental protocol, liver tissue samples were taken from all rat groups and histopathological and genetic analyses were performed. RESULTS: The mean steatosis degrees of the Ob + D + ExA and Ob + D + ExE groups were statistically significantly decreased compared to the obese diabetic group (p < 0.001). The group with the lowest mean steatosis grade was the Ob + D + ExE. Decrease in SOCS-3 expression was significant in Ob + D + M and Ob + D + P groups than other groups (p < 0.05). Mean staining intensities of Ob + D + Ex group, Ob + D + ExE group and Ob + D + P group according to IRS-1 expression statistically significantly increased compared to obese diabetic group (p < 0.05). Average staining intensity of Ob + D + ExE group according to IRS-1 expression was significant than other groups. CONCLUSION: Exercise and exenatide treatments seemed to be the prominent treatment methods by showing a statistically significant effect in decreasing the degree of steatosis, decreasing the Socs3 expression level and increasing the Irs-1 expression level.

Altered expression of apoptosis-related, circulating cell-free miRNAs in children with familial Mediterranean fever: a cross-sectional study.

OBJECTIVES: Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by recurrent fever and serositis episodes. Identification of low penetrant or heterozygous MEFV mutations in clinically diagnosed FMF patients did raise a concern on whether epigenetic or environmental factors play an additional role in FMF pathogenesis. We aimed to investigate the expression profile of apoptosis-related miRNAs in FMF and their influence on clinical manifestations in the present study. METHOD: 191 pediatric FMF patients and 31 healthy children included in the study. Expressions of 33 apoptosis-related, circulating cell-free miRNAs were evaluated by a quantitative polymerase chain reaction, statistically calculated within ΔΔCt values and fold changes were evaluated by Welch T test, in which p < 0.05 were considered to be significant. RESULTS: Nineteen miRNAs, including let-7a-5p, let-7c, let-7 g-5p, miR-15b-5p, miR-16-5p, miR-17-5p, miR-23a-3p, miR-24-3p, miR-25-3p, miR-26a-5p, miR-26b-5p, miR-27a-3p, miR-29c-3p, miR-30a-5p, miR-30d-5p, miR-30e-5p, miR-106b-5p, miR-146a-5p, and miR-195-5p, were found down-regulated; miR-15a-5p, miR-29b-3p, miR-181a-5p, miR-181b-5p, miR-181c-5p, miR-214-3p, and miR-365a-3p were up-regulated in FMF patients. In detail, these miRNAs were similar among FMF patients in terms of genotype, colchicine response, and having an inflammatory attack during analysis. CONCLUSION: We found that 26 apoptosis-related circulating miRNAs were deregulated in children with FMF. Thus, we speculate that these miRNAs have a role in FMF pathogenesis via apoptotic mechanisms.

Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade?

BACKGROUND/OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease and is characterized by recurrent fever and serositis episodes. We aimed to share our 20-year FMF experience, clarify a phenotype-genotype correlation, and compare the characteristics and outcomes of pediatric FMF patients over the last 2 decades in this study. METHODS: This medical record review study included 714 pediatric FMF patients (340 females, 374 males), diagnosed by Tel Hashomer diagnostic criteria between January 2009 and January 2019 and followed up in our department. Demographic and disease characteristics, obtained from medical records of the patients, were compared between patients with M694V homozygosity and other genotypes and showed whether they were diagnosed before (n = 137) or after January 2010 (n = 577). χ2, Student t, and Mann-Whitney U tests were used to compare categorical and continuous variables between these groups. RESULTS: The most common symptoms were abdominal pain (92%), fever (89.5%), and arthralgia (64.5%). Mean ages at symptom onset and diagnosis were 5.16 ± 3.73 and 7.71 ± 3.87 years, respectively. M694V homozygosity was recorded in 111 patients (15.5%). Fever, arthralgia, arthritis, myalgia, erysipela-like erythema, colchicine resistance, and subclinical inflammation were more frequent, and mean disease severity score was higher in patients with M694V homozygosity. Fever, chest pain, and proteinuria were statistically more frequent in patients diagnosed before January 2010. Although M694V homozygosity rate was similar, patients diagnosed in the last decade had lower mean disease severity score. CONCLUSIONS: With this study, we speculate that although genotype and delay in diagnosis were similar, patients diagnosed in the last decade have a milder disease severity.

The Effects of Various Polishing Procedures on Surface Topography of CAD/CAM Resin Restoratives.

PURPOSE: To investigate the effects of different polishing procedures on surface properties of CAD/CAM resin blocks. MATERIALS AND METHODS: In this study, three different CAD/CAM restorative materials (Cerasmart, Lava Ultimate and Shofu Block HC) were used. CAD/CAM blocks were cut in 3-mm-thick slabs and divided into 5 groups. Group-1: Glaze; Group-2: Two-step Diamond Polisher; Group-3: One-step Diamond Polisher; Group-4: Three-step Diamond Polisher; Group-5: Polishing Discs+Diamond Paste. After polishing, top surfaces of the samples were prepared to screen by noncontact laser profilometer (Nanovea) for measurements. Data were analyzed using two-way analysis of variance (ANOVA). RESULTS: The arithmetical mean deviation of the profile was defined as Ra. The extension of Ra (a line's arithmetical mean height) to a surface was defined as Sa. Compared to the arithmetical mean of the surface, Sa expresses the difference in terms of each point's height as an absolute value. Sa was commonly used to assess surface roughness. The highest surface roughness (Ra) values in this study were 0.313 ± 0.05 for Cerasmart, 0.433 ± 0.10 for Lava Ultimate and 0.320 ± 0.05 for Shofu Block HC. The specimens in Group-4 displayed higher Ra values than other groups for each CAD/CAM material. According to surface topography (Sa) values, highest values were 2.936 ± 1.25 for Cerasmart, 2.633 ± 1.28 for Lava Ultimate and 3.489 ± 0.57 for Shofu Block HC. For Cerasmart, LAVA Ultimate and Shofu blocks, Group-1 exhibited significantly higher Sa values than other groups (p < 0.001). CONCLUSION: Optiglaze Color, Sof-Lex Diamond and Identoflex Diamond Ceramic Polisher create smooth CAD/CAM resin surfaces. However, surface roughness values of Cosmedent Nano/Microhybrid Diamond and Diapolisher Paste applied specimens were high. According to Sa values, highest roughness values belong to Optiglaze Color.

Clinical features of childhood uveitis at a tertiary referral center in Southern Turkey.

PURPOSE: To report the epidemiology, etiology, ocular characteristics, management, and visual outcomes of pediatric uveitis patients in Southern Turkey. METHODS: The clinical records of pediatric patients with a diagnosis of uveitis under the age of 16 years and followed up longer than 6 months were analyzed retrospectively. RESULTS: The study included 102 patients and 173 affected eyes. The mean age at presentation was 11.4 ± 3.7 years. Uveitis was predominantly bilateral (69.6%), anterior (45.1%), and chronic (58.8%). The leading diagnoses were idiopathic uveitis (38.2%), pars planitis (19.6%), and juvenile idiopathic arthritis-associated uveitis (14.7%). Infectious uveitis accounted for 12.7%, and toxoplasmosis was the most common cause (10.8%). At least one complication was observed in 76.3% of the eyes, and optic disk edema (37%) was the most frequent. Corticosteroids were used in 97.1% and systemic immunomodulatory agents in 49% of the patients. Ocular surgery was performed in 17.3% of the eyes, and cataract extraction was the most common (8.7%). The mean BCVA was 0.39 ± 0.66 LogMAR at baseline and 0.25 ± 0.53 LogMAR at the last recorded visit. CONCLUSION: Pediatric uveitis is a challenging disease that requires meticulous management. Anterior uveitis is the most frequent form. Despite a changing trend for an increase in diagnostic variety, idiopathic cases still constitute the majority. A significant number of patients receive systemic therapy, develop complications, and require surgical intervention. Early diagnosis and appropriate treatment might improve visual outcomes and reduce the risk of visual loss.

Serum lubricin levels in patients with juvenile idiopathic arthritis.

OBJECTIVES: Lubricin, encoded by the proteoglycan 4 (PRG4) gene, is mainly responsible for lubricating joints. However, there is expanding evidence on its involvement in inflammatory pathways. Juvenile idiopathic arthritis (JIA) is a heterogeneous group of chronic arthritides with an unknown origin in children aged below 16 years. It is characterized by chronic joint inflammation, including synovial inflammation, and may result in cartilage destruction. We aimed to determine whether serum lubricin levels are affected in JIA patients. MATERIAL AND METHODS: This cross-sectional study included children diagnosed with JIA and 28 healthy controls. The patients were divided into two groups according to the presence of remission at the time of study. Lubricin protein analysis was performed by the enzyme-linked immunosorbent assay method. Serum samples were obtained at the study enrollment, and lubricin levels were measured once, and compared between JIA patients and healthy controls, and between JIA patients with active disease and remission. RESULTS: The study included 52 JIA patients (28 female, 24 male) and 28 healthy controls (18 female, 10 males). The mean age at study enrollment was 11.66 ±4.41 years and 12.72 ±4.52 years in the JIA patient and control groups, respectively. Although median serum lubricin level did not differ between JIA patients (median: 0.66 ng/µl, range: 0.02-3.85 ng/µl) and healthy controls (median: 0.52 ng/µl, range: 0.06-3.84 ng/µl), it was statistically significantly higher in patients with active disease (median: 1.58 ng/µ, range: 0.08-3.85 ng/µl) than both patients in remission (median: 0.57 ng/µl, range: 0.02-3.57 ng/µl) and healthy controls. A low degree positive correlation was also found between serum lubricin levels and erythroid sedimentation rate of the JIA patients (r = 0.383 and p = 0.011). CONCLUSIONS: This is the first study investigating serum lubricin levels in JIA patients, and we found elevated serum lubricin levels in JIA patients with active disease. Further studies are needed to clarify our results.

Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey.

Stimulator of interferon genes associated vasculopathy with onset in infancy (SAVI), caused by heterozygote gain-of-function mutations in TMEM173, is characterized by fever attacks with ulcerating cutaneous manifestations on cold-sensitive areas and interstitial lung disease. A six-month-old boy was admitted to our hospital with fever, cough, and rash on the external surface of both upper and lower extremities. Respiratory symptoms consistent with ILD developed and skin lesions evolved to eschar formation particularly on acral regions. Ultimately, diagnosis of SAVI was confirmed at the age of 10 months due to the high level of interferon-score and a heterozygous N154S mutation in TMEM173. Since systemic corticosteroid and ruxolitinib were not effective, baricitinib was initiated at the age of 15 months, resulting in alleviation of fever attacks, cutaneous manifestations and respiratory symptoms within 2 months. In conclusion, we reported an infant diagnosed with SAVI at the age of 10 months and treated with baricitinib.

Unicentric Castleman Disease Mimicking an Autoinflammatory Disorder: A Diagnostic Challenge in a Pediatric Patient With Recurrent Fever.

Unicentric Castleman disease (CD) is a rare lymphoproliferative disorder that is characterized by the enlargement of lymph nodes on the neck, mediastinum, and retroperitoneum. Herein, we present a 6-year-old female patient, referred to our medical center because of recurrent fever accompanied by cervical lymphadenopathy and elevated inflammatory markers since 3 years of age. Fever episodes lasting 1 day continued irregularly without any accompanying symptom. MEditerranean FeVer (MEFV) gene analysis showed no mutations; however, as inflammatory markers including serum amyloid A remained markedly high during attack-free periods, colchicines was initiated. The patient did not respond to maximally tolerated doses of colchicine; therefore, we added canakinumab and systemic methylprednisolone, subsequently. Unresponsiveness to 3 doses of bimonthly canakinumab and new-onset hepatosplenomegaly led us to investigate large-vessel vasculitis and malignancy; therefore, we performed Position emission tomography, which further revealed a hypermetabolic retroperitoneal solid mass. After performing the excisional biopsy, the patient has been diagnosed as suffering from hyaline vascular variant CD, confirmed by histopathology. In conclusion, we report a pediatric unicentric CD, which resembled autoinflammatory diseases and responded well to surgical resection, with the normalization of inflammatory markers 1 month after the procedure. CD, even the unicentric and hyaline vascular variant, should be considered in the differential diagnosis of the patients with an autoinflammatory phenotype.

Clinical manifestations and outcomes of 420 children with Henoch Schönlein Purpura from a single referral center from Turkey: A three-year experience.

Objectives: Henoch Schönlein Purpura (HSP) is the most common systemic vasculitis in childhood. We aimed to evaluate the clinical features, seasonal variation, treatment outcomes and the possible predicting factors related to outcome among a large cohort of pediatric HSP patients.Methods: We conducted a medical record review study between July 2016 and January 2019 and evaluated the clinical manifestations and potential risk factors for severe gastrointestinal (GI) involvement, biopsy-proven nephritis and relapses.Results: The study included 420 HSP patients, of which the mean age at diagnosis was 7.68 ± 3.15 years. Clinical manifestations were arthralgia and/or arthritis (n = 244, 58.1%), abdominal pain (n = 235, 56%), subcutaneous edema (n = 163, 38.8%), and renal involvement (n = 125, 29.8%). Disease recurred for at least once, in 69 (16.4%) patients and colchicine treatment yielded a favorable response in 11 of 12 relapsing patients, who did not respond to ibuprofen or steroids. Frequencies of renal involvement and biopsy-proven nephritis were higher in patients with severe GI involvement. Besides, patients with biopsy-proven nephritis had higher rates of abdominal pain, intussusception, severe GI involvement, and systemic steroid administration.Conclusion: We speculate that renal involvement, biopsy-proven nephritis and severe GI involvement can be related to each other. Colchicine may be effective in patients with relapsing disease.

Retrospective analyzes of adverse events during biologic agents in children with juvenile idiopathic arthritis from a single center in Turkey.

OBJECTIVES: Juvenile idiopathic arthritis is the most common rheumatic disease in childhood. Biologic agents have changed the course of juvenile idiopathic arthritis. However, there are concerns regarding the occurrence of serious adverse events in patients receiving biologic agents. The aim of this study was to evaluate adverse events in children with juvenile idiopathic arthritis receiving biologic agents. MATERIAL AND METHODS: This retrospective study includes juvenile idiopathic arthritis patients receiving biologic agents. Demographic features and adverse events during biologic agents were collected from medical files. Adverse events that either resulted in death, were life-threatening, required inpatient hospitalization, or resulted in persistent or significant disability/incapacity were considered as serious adverse events. RESULTS: In total, 162 juvenile idiopathic arthritis patients (55.6% female) receiving biologic agents were enrolled: 101 (62.3%) patients treated with etanercept, 27 (16.7) with tocilizumab, 14 (8.6%) with adalimumab, 15 (9.2%) with anti-interleukin 1 agents (13 canakinumab, 2 anakinra), and 5 (3.1%) with infliximab. 75.9% of the patients received concomitantly disease-modifying anti-rheumatic drugs, and 20.4% received disease-modifying anti-rheumatic drugs plus corticosteroid. The mean age at initiation of the biologic agent was 10.5 ±4.3 years. The mean age at the study enrolment was 12.1 ±4.5 years. The mean follow-up duration was 19.7 ±2.1 months. The most frequent adverse event was upper respiratory tract infections (54.3%) followed by urinary tract infections (21%). Anaphylaxis occurred in 3 patients (1.9%): 2 with tocilizumab and one with infliximab. Macrophage activation syndrome occurred in 1 patient (0.6%) receiving tocilizumab. Lung tuberculosis developed in 2 patients (1.2%) receiving canakinumab. The frequency of serious adverse events in total was 6.7%. CONCLUSIONS: While the most frequent adverse events during biologic agents was upper respiratory tract infections, the frequency of serious adverse events was 6.7%; therefore, juvenile idiopathic arthritis patients receiving biologic agents should be carefully evaluated for these adverse events in clinical practice.

The contribution of diet preference to the disease course in children with familial Mediterranean fever: a cross-sectional study.

OBJECTIVES: Familial Mediterranean fever (FMF) is characterized by recurrent, self-limiting attacks of fever and serositis. Nutrition is very important in the management of chronic diseases. Previous studies suggested that salty and fatty diet cause inflammation, therefore we aimed to investigate the effects of dietary self-efficacy and behavior about low-salt or low-fat diet on disease course in children with FMF. MATERIAL AND METHODS: This cross-sectional study included patients aged between 10-18 years, diagnosed in our department and admitted between June 2019 and September 2019. Demographic and clinical properties were obtained from the medical files of the patients. Children's Dietary Self-Efficacy Scale (CDSS) and Health Behavior Questionnaire (HBQ) - Diet Behavior Scale (DBS) were performed for dietary self-efficacy and behavior about preferring low-salt or low-fat diet. Clinical features were compared between patients, which were grouped according to the sum of these two scales, with a cut-off score of 5. RESULTS: The mean age of 74 FMF patients (44 females, 34 males), included in the study, was 14.6 ±2.82 years. Median CDSS and DBS scores of the patients were 5 (minimum -6, maximum 14) and 0 (minimum -10, maximum 12), respectively. According to the sum of these two scales, 39 (52.7%) patients who had scored at least 5, had a statistically higher rate of complete response to colchicine. The remaining clinical parameters were similar between these two groups. CONCLUSIONS: Low-salt or low-fat diet may be an adjuvant modification in the management of children with FMF. Further studies are needed to clarify the role of low-salt or low-fat diet in FMF pathogenesis.

Is Henoch-Schönlein purpura a susceptibility factor for functional gastrointestinal disorders in children?

Henoch-Schönlein purpura (HSP), the most common childhood vasculitis is characterized by non-thrombocytopenic palpable purpura, arthritis/arthralgia, abdominal pain and renal involvement. Functional gastrointestinal disorders (FGIDs) are heterogeneous disease spectrum with unclear etiology and include the most common subtypes: functional dyspepsia, irritable bowel syndrome (IBS), functional abdominal pain and functional constipation. Formerly, FGIDs were known as non-organic disorders; however, recent advances revealed that low-grade inflammation may also play a role. We aimed to clarify whether HSP predisposes to FGIDs in pediatric population. Seventy-four children with HSP, diagnosed at least 6 months before the study and 78 healthy controls were enrolled to the study. Patients with red flag signs for organic GI disorders were excluded. Rome IV criteria were utilized for FGIDs diagnosis. We compared the frequencies of FGIDs between HSP patients and healthy subjects. We also examined the parameters including age, abdominal pain, arthralgia, bloody stool, renal involvement and treatment with corticosteroids and laboratory results at HSP diagnosis such as erythrocyte sedimentation rate, C-reactive protein, hemoglobin, leukocytes and platelet counts among patients with and without FGIDs. Overall FGIDs and IBS frequency were 35.1% (n = 26) and 10.8% (n = 8) in HSP patients, 19.2% (n = 15) and 2.6% (n = 2) in healthy controls, respectively. Disease characteristics and laboratory parameters at disease onset were similar between HSP patients with and without FGIDs. Overall FGIDs rate, particularly IBS were statistically higher in HSP patients. We speculate that children with preceding HSP may be predisposed to FGIDs. Since the FGIDs pathogenesis is still remains unclear, further studies are needed to confirm this hypothesis and clarify the etiology. Physicians also should pay attention to FGIDs in HSP patients with ongoing abdominal pain and thus prevent this comorbidity with dietary and psychologic measures.

A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia.

Deficiency of Adenosine Deaminase 2 (DADA2) is a monogenic autoinflammatory disorder characterized by livedo reticularis, skin ulcers, subcutaneous rash, aphthous ulcers, and leukocytoclastic vasculitis, neurological signs such as early onset stroke and polyneuropathy. A minority of DADA2 patients suffer from severe cytopenia and lymphoproliferation. Herein, we report an adolescent patient, followed up as having a hematological disorder for many years, eventually diagnosed as having DADA2. In view of the presence of elevated acute phase reactants, hepatosplenomegaly, low IgM level, lymphopenia, anemia, and neutropenia, and a subtle neurological involvement we considered DADA2 diagnosis. The diagnosis was confirmed by identification of a novel L451W mutation in CECR1 gene. The patient has been successfully treated with etanercept, monthly intravenous immunoglobulin replacement, and low-dose methylprednisolone. In conclusion, although the absence of skin and neurological findings, low IgM levels, and persistent lymphopenia should lead the physicians to consider DADA2 in patients with particularly complicated hematological abnormalities.