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BACKGROUND: Patients with chronic gastrointestinal disease such as inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), celiac disease, gastroesophageal reflux disease (GERD), pancreatitis, and chronic liver disease (CLD) often suffer from obesity because of coincidence (IBD, IBS, celiac disease) or related pathophysiology (GERD, pancreatitis and CLD). It is unclear if such patients need a particular diagnostic and treatment that differs from the needs of lean gastrointestinal patients. The present guideline addresses this question according to current knowledge and evidence.OBJECTIVE: The present practical guideline is intended for clinicians and practitioners in general medicine, gastroenterology, surgery and other obesity management, including dietitians and focuses on obesity care in patients with chronic gastrointestinal diseases.METHODS: The present practical guideline is the shortened version of a previously published scientific guideline developed according to the standard operating procedure for ESPEN guidelines. The content has been re-structured and transformed into flow-charts that allow a quick navigation through the text.RESULTS: In 100 recommendations (3× A, 33× B, 24 × 0, 40× GPP, all with a consensus grade of 90% or more) care of gastrointestinal patients with obesity - including sarcopenic obesity - is addressed in a multidisciplinary way. A particular emphasis is on CLD, especially metabolic associated liver disease, since such diseases are closely related to obesity, whereas liver cirrhosis is rather associated with sarcopenic obesity. A special chapter is dedicated to obesity care in patients undergoing bariatric surgery. The guideline focuses on adults, not on children, for whom data are scarce. Whether some of the recommendations apply to children must be left to the judgment of the experienced pediatrician.CONCLUSION: The present practical guideline offers in a condensed way evidence-based advice how to care for patients with chronic gastrointestinal diseases and concomitant obesity, an increasingly frequent constellation in clinical practice.

Background: Bilateral kidney stones are commonly treated in staged procedures. Objective: To evaluate outcomes after same-sitting bilateral retrograde intrarenal surgery (SSB-RIRS) for renal stones. Design, setting, and participants: Data from adults who underwent bilateral RIRS in 21 centers were retrospectively reviewed (from January 2015 to June 2022). The inclusion criteria were unilateral/bilateral symptomatic bilateral stone(s) of any size/location in both kidneys and bilateral stones on follow-up with symptom/stone progression. Stone-free rate (SFR) was defined as absence of any fragment >3 mm at 3 mo. Outcome measurements and statistical analysis: Continuous variables are presented as medians and 25–75th percentiles. A multivariable logistic regression analysis was performed to evaluate independent predictors of sepsis and bilateral SFR. Results and limitations: A total of 1250 patients were included. The median age was 48.0 (36–61) yr. Of the patients, 58.2% were prestented. The median stone diameter was 10 mm on both sides. Multiple stones were present in 45.3% and 47.9% of the left and right kidneys, respectively. Surgery was stopped in 6.8% of cases. The median surgical time was 75.0 (55–90) min. Complications were transient fever (10.7%), fever/infection needing prolonged stay (5.5%), sepsis (2%), and blood transfusion (1.3%). Bilateral and unilateral SFRs were 73.0% and 17.4%, respectively. Female (odds ratio [OR] 2.97, 95% confidence interval [CI] 1.18–7.49, p = 0.02), no antibiotic prophylaxis (OR 5.99, 95% CI 2.28–15.73, p < 0.001), kidney anomalies (OR 5.91, 95% CI 1.96–17.94, p < 0.001), surgical time ≥100 min (OR 2.86, 95% CI 1.12–7.31, p = 0.03) were factors associated with sepsis. Female (OR 1.88, 95% CI 1.35–2.62, p < 0.001), bilateral prestenting (OR 2.16, 95% CI 1.16–7.66, p = 0.04), and the use of high-power holmium:YAG laser (OR 1.63, 95% CI 1.14–2.34, p < 0.01) and thulium fiber laser (OR 2.50, 95% CI 1.32–4.74, p < 0.01) were predictors of bilateral SFR. Limitations were retrospective study and no cost analysis. Conclusions: SSB-RIRS is an effective treatment with an acceptable complication rate in selected patients with kidney stones. Patient summary: In this large multicenter study, we looked at outcomes after same-sitting bilateral retrograde intrarenal surgery (SSB-RIRS) for renal stones in a large cohort. We found that SSB-RIRS was associated with acceptable morbidity and good stone clearance after a single session.

Home dialysis modalities (home hemodialysis [HD] and peritoneal dialysis [PD]) are associated with greater patient autonomy and treatment satisfaction compared with in-center modalities, yet the level of home-dialysis use worldwide is low. Reasons for limited utilization are context-dependent, informed by local resources, dialysis costs, access to healthcare, health system policies, provider bias or preferences, cultural beliefs, individual lifestyle concerns, potential care-partner time, and financial burdens. In May 2021, KDIGO (Kidney Disease: Improving Global Outcomes) convened a controversies conference on home dialysis, focusing on how modality choice and distribution are determined and strategies to expand home-dialysis use. Participants recognized that expanding use of home dialysis within a given health system requires alignment of policy, fiscal resources, organizational structure, provider incentives, and accountability. Clinical outcomes across all dialysis modalities are largely similar, but for specific clinical measures, one modality may have advantages over another. Therefore, choice among available modalities is preference-sensitive, with consideration of quality of life, life goals, clinical characteristics, family or care-partner support, and living environment. Ideally, individuals, their care-partners, and their healthcare teams will employ shared decision-making in assessing initial and subsequent kidney failure treatment options. To meet this goal, iterative, high-quality education and support for healthcare professionals, patients, and care-partners are priorities. Everyone who faces dialysis should have access to home therapy. Facilitating universal access to home dialysis and expanding utilization requires alignment of policy considerations and resources at the dialysis-center level, with clear leadership from informed and motivated clinical teams.

While pregnancy among end-stage kidney disease patients is rare, the number of females becoming pregnant has been increasing worldwide during the last decade. The frequency of conception in this patient group has been reported to be between 0.3% and 7% per year. The aim of this review is to summarize the latest guidelines and practice points for ensuring the best outcome for both the fetus and the mother.

Purpose To evaluate the perioperative outcomes of retrograde intra-renal surgery (RIRS) for lower pole stones (LPS) and factors affecting stone-free rate (SFR). Methods Data from 20 centers were retrospectively reviewed. Inclusion criteria were adult patients, normal renal anatomy, and LPS. Exclusion criteria were bilateral surgery, concomitant surgery for ureteral stones. SFR was defined as a single residual fragment (RF) ≤ 2 mm and evaluated 3-months after surgery. A multivariable logistic regression analysis was performed to assess factors associated with RF. Statistical significance was set at p value Results 2946 patients were included. Mean age and stone size were 49.9 years 10.19 mm, with multiple LPS in 61.1% of cases. Total operation and laser time were 63.89 ± 37.65 and 17.34 ± 18.39 min, respectively. Mean hospital stay was 3.55 days. Hematuria requiring blood transfusion and fever/urinary infections requiring prolonged antibiotics occurred in 6.1% and 169 5.7% of cases, while sepsis with intensive-care admission in 1.1% of patients. On multivariate analysis, Multiple stones (OR 1.380), stone size (OR 1.865), and reusable ureteroscopes (OR 1.414) were significantly associated with RF, while Thulium fiber laser (TFL) (OR 0.341) and pre-stenting (OR 0.750) were less likely associated with RF. Conclusions RIRS showed safety and efficacy for LPS with a mean diameter of 10 mm. This procedure can achieve a satisfactory SFR in pre-stented patients with a single and smaller stone, particularly with TFL use.

© 2023, The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).Background: This study aimed to assess the mortality of PsA before and during the COVID-19 pandemic. Methods: From the prospective, multicenter PsART-ID (Psoriatic Arthritis Registry-International Database), patients from Turkey were analyzed by linking the registry to the Turkish Cause of Death Registry. The outcome of interest was death from any cause, pre-pandemic (since the onset of registry—March 2014–March 2020), and during the pandemic (March 2020–May 2021). The crude mortality rate and standardized mortality ratio (SMR) were determined. Results: There were 1216 PsA patients with a follow-up of 7500 patient-years. Overall, 46 deaths (26 males) were observed. In the pre-pandemic period, SMR for PsA vs the general population was 0.95 (0.61–1.49), being higher in males [1.56 (0.92–2.63)] than females [0.62 (0.33–1.17)]. The crude mortality rate in PsA doubled during the pandemic (pre-pandemic crude mortality rate: 5.07 vs 10.76 during the pandemic) with a higher increase in females (2.9 vs 8.72) than males (9.07 vs 14.73). Conclusion: The mortality in PsA was found similar to the general population in the pre-pandemic era. The mortality rates in PsA doubled during the pandemic. Whether PsA patients have more risk of mortality than the general population due to COVID-19 needs further studies.Key Points• Decrease in mortality in PsA might be expected with the more effective treatment options and better disease control.• A crude mortality rate is comparable to the general population and not increased until the pandemic.• Currently, there is a 2-fold increase in crude mortality rate possibly due to the COVID-19.

Background The novel peptide neuropeptide W (NPW) was originally shown to function in the control of feeding behavior and energy homeostasis. The aim of this study was to elucidate the putative preventive and therapeutic effects of NPW on colitis-associated oxidative injury and the underlying mechanisms for its action.Methods Sprague-Dawley rats in the acute colitis groups received NPW (0.5, 1 or 5 mu g/kg/day) injections prior to induction of colitis with acetic acid, while the chronic colitis groups were treated after the induction of colitis. In both acute and chronic colitis (CC) groups, treatments were continued for 5 days and the rats were decapitated at the 24th hour of the last injections and colon tissues were collected for assessments.Results NPW pretreatment given for 5 days before colitis induction, as well as treating rats with NPW during the 5-day course of CC, abolished colonic lipid peroxidation. NPW treatment prevented colitis-induced reduction in blood flow, diminished neutrophil infiltration, and pro-inflammatory cytokine responses. NPW pretreatment only at the higher dose reduced colonic edema and microscopic score and preserved colonic glutathione stores. Elevations in cyclooxygenase (COX) enzyme activity and COX-1 protein level during the acute phase of colitis as well as reduction in COX-2 were all reversed with NPW pretreatment. In contrast, NPW treatment was effective in reducing the elevated COX-2 concentration during the chronic phase.Conclusions NPW alleviates acetic acid-induced oxidative colonic injury in rats through the upregulation of colonic blood flow as well as the inhibition of COX-2 protein expression and pro-inflammatory cytokine production.

Background Early reports on the pandemic nature of coronavirus disease 2019 (COVID-19) directed the nephrology community to develop infection prevention and control (IPC) guidance. We aimed to make an inventory of strategies that dialysis centres followed to prevent infection with COVID-19 in the first pandemic wave. Methods We analyzed IPC measures taken by hemodialysis centres treating patients presenting with COVID-19 between 1 March 2020 and 31 July 2020 and that completed the European Renal Association COVID-19 Database centre questionnaire. Additionally, we made an inventory of guidelines published in European countries to prevent spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in dialysis centres. Results Data from 73 dialysis units located in and bordering Europe were analyzed. All participating centres implemented IPC measures to mitigate the impact of SARS-CoV-2 during the first pandemic wave. Measures mentioned most often included triage with questions before entering the dialysis ward, measuring body temperature, hand disinfection, masking for all patients and staff, and personal protective equipment for staff members. These measures were also recommended in most of the 14 guidelines that were identified in the inventory of national guidelines and were also scored as being among the most important measures by the authors of this paper. Heterogeneity existed between centres and national guidelines regarding the minimal distance between dialysis chairs and recommendations regarding isolation and cohorting. Conclusions Although variation existed, measures to prevent transmission of SARS-CoV-2 were relatively similar across centres and national guidelines. Further research is needed to assess causal relationships between measures taken and spread of SARS-CoV-2.

Objectives: In this study, we aimed to evaluate the factors associated with disability and quality of life (QoL) in Turkish patients with systemic sclerosis (SSc). Patients and methods: Between January 2018 and January 2019, a total of 256 SSc patients (20 males, 236 females; mean age: 50.9±12.4 years; range, 19 to 87 years) who were diagnosed with SSc were included in the study. Disability and health-related QoL (HRQoL) were evaluated by the Health Assessment Questionnaire (HAQ), scleroderma HAQ (SHAQ), Duruöz Hand Index (DHI), and Short Form-36 (SF-36). Linear regression analysis methods were used to describe factors associated with disability and QoL of the patients. Results: All disability scores were higher and HRQoL scores were lower in diffuse cutaneous SSc patients compared limited cutaneous SSc, and differentiations were significant (p=0.001 and p=0.007). In multiple regression, pain (VAS) was the strongest predictor for high disability and low QoL scores (p Conclusion: Clinicians should consider the management of the pain and its sources as a key to improve better functional state and quality of daily life in SSc.

Background Patients with non-alcoholic fatty liver disease (NAFLD) and more advanced fibrosis tend to have more impairment in their health-related quality of life and other patient-reported outcomes (PROs). Aim To assess the association of PROs with select non-invasive tests (NITs) for fibrosis including FAST, Agile 3+ and Agile 4 scores Methods We enrolled patients with an established diagnosis of NAFLD who were seen in a tertiary care clinic into the NAFLD/NASH Registry. The FAST, Agile 3+ and Agile 4 scores were calculated using liver stiffness measurements by transient elastography and laboratory parameters. PROs were assessed using FACIT-F, CLDQ-NASH and WPAI instruments (total of 17 domain and summary scores). Results There were 1509 patients with NAFLD (mean age: 49 +/- 11 years, 50% men, 41% employed, 30% advanced fibrosis and 20% cirrhosis). The mean FAST, Agile 3+ and Agile 4 scores were 0.39 +/- 0.26, 0.35 +/- 0.31 and 0.12 +/- 0.23, respectively. Subjects with lower FAST, Agile 3+ and Agile 4 scores had the highest scores in select domains of FACIT-F, CLDQ-NASH and WPAI (p < 0.05 in comparison to subjects with elevated or high-risk NIT scores). Correlations with continuous NITs were significantly negative for Emotional and Functional well-being (FACIT-F), Activity/energy, Systemic symptoms, Worry and total scores (CLDQ-NASH), and Activity of WPAI (p < 0.05); the strongest was for Worry (CLDQ-NASH) with FAST (R = -0.17, p < 0.0001). The PRO scores of patients with NAFLD were lower than those of matched patients with chronic hepatitis B (p < 0.05 for 9/17 domain and summary scores). Conclusion Patients with NAFLD and high FAST, Agile 3+ or Agile 4 scores experience impairment of health-related quality of life.

Introduction: There are several studies in the literature about pathological fractures but almost no in-formation about patients whose pathological fracture caused by a malignant lesion misdiagnosed and treated as a simple fracture. The aim of this study was to investigate patient and fracture characteristics, and outcomes in cases where fractures occurred in the presence of a malign pathology but were treated as simple fractures. Patients andMethods: Cases of malign bone lesions between 20 0 0 and 2020 were retrospectively re-viewed. Patients with a final diagnosis of malign bone lesion but whose pathological fractures were treated ignoring the underlying malign bone disease were included. Demographic, clinical and outcome data were collected from patient\"s medical records and analyzed.Results: Six patients met the inclusion criteria. Three of the patients were female and the cohort mean age was 56.8 +/- 21.8 years at the time of admission. Patient diagnoses were: renal cell carcinoma metas-tasis ( n = 1); colon cancer metastasis ( n = 1); chondrosarcoma ( n = 2); osteosarcoma ( n = 1); and undif-ferentiated pleomorphic sarcoma of bone ( n = 1). In all cases surgical management differed from those that should have been applied if the pathological fracture had been identified. Furthermore, surgical man-agement after definitive histological diagnosis were more aggressive compared to if the malignancy had been identified at first admission. All patients died after a mean follow-up of 16.67 +/- 11.7 months and the complication rate was 100%.Conclusion: When a pathological fracture is misdiagnosed and managed as a simple bone fracture, out-comes are extremely poor. In these situations, remedial surgery is more extensive, with increased com-plication rates and there is poor life expectancy.(c) 2022 Elsevier Ltd. All rights reserved.

Objective: To develop a standardised tool to evaluate flexible ureterorenoscopes (fURS). Materials and Methods: A three-stage consensus building approach based on the modified Delphi technique was performed under guidance of a steering group. First, scope- and user-related parameters used to evaluate fURS were identified through a systematic scoping review. Then, the main categories and subcategories were defined, and the expert panel was selected. Finally, a two-step modified Delphi consensus project was conducted to firstly obtain consensus on the relevance and exact definition of each (sub)category necessary to evaluate fURS, and secondly on the evaluation method (setting, used tools and unit of outcome) of those (sub)categories. Consensus was reached at a predefined threshold of 80% high agreement. Results: The panel consisted of 30 experts in the field of endourology. The first step of the modified Delphi consensus project consisted of two questionnaires with a response rate of 97% (n = 29) for both. Consensus was reached for the relevance and definition of six main categories and 12 subcategories. The second step consisted of three questionnaires (response rate of 90%, 97% and 100%, respectively). Consensus was reached on the method of measurement for all (sub)categories. Conclusion: This modified Delphi consensus project reached consensus on a standardised grading tool for the evaluation of fURS – The Uniform grading tooL for flexIble ureterorenoscoPes (TULIP) tool. This is a first step in creating uniformity in this field of research to facilitate future comparison of outcomes of the functionality and handling of fURS.

Background: CDK4/6 inhibitors combined with endocrine therapy have significantly improved treatment outcomes for metastatic hormone receptor-positive (HR+) breast cancer patients. However, the impact of low HER2 expression on treatment response and progression-free survival (PFS) remains unclear. Methods: This multicenter retrospective study included 204 HR+ breast cancer patients treated with a combination of CDK4/6 inhibitor and endocrine therapy. HER2-zero disease was detected in 138 (68%) and HER2-low disease in 66 (32%) patients. Treatment-related characteristics and clinical outcomes were analyzed, with a median follow-up of 22 months. Results: The objective response rate (ORR) was 72.7% in the HER2 low group and 66.6% in the HER2 zero group (p = 0.54). Median PFS was not significantly different between the HER2-low and HER2 zero groups (19 months vs.18 months, p = 0.89), although there was a trend toward longer PFS in the HER2-low group for first-line treatment (24 months progression-free survival rate 63% vs 49%). In recurrent disease, the median PFS was 25 months in the HER2-low group and 12 months in the HER2-zero group (p = 0.08), while in de novo metastatic disease, the median PFS was 18 months in the HER2-low group and 27 months in the HER2-zero group (p = 0.16). The order of CDK4/6 inhibitor use and the presence of visceral metastasis were identified as independent variables affecting PFS. Conclusion: Low HER2 expression did not significantly impact treatment response or PFS in HR+ breast cancer patients treated with a CDK4/6 inhibitor and endocrine therapy. Because of the conflicting results in the literature, further prospective studies are needed to evaluate the clinical significance of HER2 expression in HR+ breast cancer.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic.

Background Patients with chronic gastrointestinal (GI) disease such as inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), celiac disease, gastroesophageal reflux disease (GERD), pancreatitis, and chronic liver disease (CLD) often suffer from obesity because of coincidence (IBD, IBS, celiac disease) or related pathophysiology (GERD, pancreatitis and CLD). It is unclear if such patients need a particular diagnostic and treatment that differs from the needs of lean GI patients. The present guideline addresses this question according to current knowledge and evidence. Objective The objective of the guideline is to give advice to all professionals working in the field of gastroenterology care including physicians, surgeons, dietitians and others how to handle patients with GI disease and obesity. Methods The present guideline was developed according to the standard operating procedure for European Society for Clinical Nutrition and Metabolism guidelines, following the Scottish Intercollegiate Guidelines Network grading system (A, B, 0, and good practice point [GPP]). The procedure included an online voting (Delphi) and a final consensus conference. Results In 100 recommendations (3x A, 33x B, 24x 0, 40x GPP, all with a consensus grade of 90% or more) care of GI patients with obesity - including sarcopenic obesity - is addressed in a multidisciplinary way. A particular emphasis is on CLD, especially fatty liver disease, since such diseases are closely related to obesity, whereas liver cirrhosis is rather associated with sarcopenic obesity. A special chapter is dedicated to obesity care in patients undergoing bariatric surgery. The guideline focuses on adults, not on children, for whom data are scarce. Whether some of the recommendations apply to children must be left to the judgment of the experienced pediatrician. Conclusion The present guideline offers for the first time evidence-based advice how to care for patients with chronic GI diseases and concomitant obesity, an increasingly frequent constellation in clinical practice.

Objectives International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed. Aim To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0–3 years. Methods Retrospective multicentre analysis using data from the I-CAH registry. Salt-treated (ST) and non-salt-treated (NST) children were compared regarding FC and HC dosage, weight, height and BP at 0, 3, 6, 9, 12, 18, 24, 30, and 36 months. Results We analysed 2483 visits of 331 patients born after year 2000 in 13 countries (male, n = 145) with 203 ST patients (61%). NST children had significantly higher FC dosages at 1.5–4.5 months and higher HC dosages until 1.5 months of age. No differences in weight, length and BP between subgroups were observed. Children of the whole cohort showed increased BMI-SDS during the study period and about half of the reported BP readings were >P95. Conclusion In children treated with additional salt supplementation, FC and HC dosages are lower during the first months of life but without differences in weight, length and BP until 3 years of age compared to NST children. All children showed an increase in BMI-SDS and a high rate of BP readings >P95 until 3 years, indicating the start of weight gain and negative effects on blood pressure already in very early life.

Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual disability, hypogonadism, and pituitary hypoplasia. To describe a new patient with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compare her clinical and molecular characteristics and pituitary functions with previously published patients. A 20-year-old female presented with severe growth, neuromotor, and developmental delay. Her weight, height, and head circumference were 5135 gr (-25.81 SDS), 68 cm (-16.17 SDS), and 34 cm (-17.03 SDS), respectively. She was prepubertal, and had dysmorphic facies, contractures, and spasticity in the extremities, and severe truncal hypotonia. There were no radiological signs of a skeletal dysplasia. The bone age was extremely delayed at 2 years. Investigation of pituitary function revealed growth hormone, prolactin, and thyroid-stimulating hormone deficiencies. Whole-exome sequencing revealed a novel homozygous missense (c.1328A > G; Y443C) variant in RNPC3. Cranial MRI revealed a hypoplastic anterior pituitary with diffuse cerebral and cerebellar atrophy. The Y443C variant in RNPC3 associated with syndromic congenital hypopituitarism and abnormal brain development. This report extends the RNPC3-related hypopituitarism phenotype with a severe neurodegenerative presentation.

© Author(s).Objective: Vitamin D deficiency is a common health problem around the world. This study aimed to evaluate the nationwide prevalence of vitamin D status in tertiary care hospitals in Turkey. Methods: Retrospectively, the data on vitamin D levels from 33 tertiary care hospitals’ clinical biochemistry laboratories around Turkey between January and December were collected. Results: In total, 706 434 serum samples from adult subjects (female/male: 469 028/237 406; 66.4%/33.6%) were included. While vitamin D levels were sufficient in 20.3% (n = 14 222), they were insufficient in 21.9% (n = 154 360) and deficient in 57.8% (n = 408 882). We observed the highest rates of deficiency in those aged between 18 and 29 years (62.9%, n = 70 235) and lowest rates between 60 and 69 years (52.3%, n = 61 121) and between 70 and 79 years (52.3%, n = 32 397). Hypervitaminosis D was detected in 5.5% of adult subjects; highest rates of hypervitaminosis D were observed in those who were over 80 years (6.6%) and 70-79 years (6.5%) and the lowest in 18-29 years (2.8%). Discussion: In this cohort, over half of the subjects admitted to the tertiary care hospitals in Turkey had vitamin D deficiency and required vitamin D supplementation. The elderly population had the lowest prevalence of vitamin D insufficiency and the highest prevalence of hypervitaminosis D.

Aim:Certolizumab pegol (CZP), an Fc-free, PEGylated tumor necrosis factor inhibitor (TNFi), has shown rapid and sustained reduction in signs and symptoms of rheumatoid arthritis (RA). Elevated rheumatoid factor (RF) level has been associated with RA disease progression and poorer TNFi response. We assessed the efficacy of CZP in patients with early and established RA across baseline RF levels. Methods:This post-hoc analysis included data from 6 trials: C-OPERA (NCT01451203), pooled RAPID trials (RAPID-1 [NCT00152386], RAPID-2 [NCT00160602], J-RAPID [NCT00791999], RAPID-C [NCT02151851]), and EXXELERATE (NCT01500278). Patients who received CZP or placebo/comparator with methotrexate (MTX) were categorized by baseline RF quartiles. Efficacy was assessed with Disease Activity Score-28 erythrocyte sedimentation rate (DAS28-ESR). Results:Overall, 316, 1537, and 908 patients were included in C-OPERA, pooled RAPID trials, and EXXELERATE, respectively. Patient demographics and baseline disease characteristics were similar between treatment groups and across RF quartiles. DAS28-ESR low disease activity (LDA) and remission (REM) rates were numerically higher in the CZP + MTX group than PBO + MTX group at weeks 12 and 24, across RF quartiles. LDA and REM rates in the CZP + MTX groups were comparable across RF quartiles at weeks 12 and 24. Mean DAS28-ESR decreased from week 0 to week 24 in the CZP + MTX groups, across RF quartiles. Conclusion:CZP showed steady efficacy across baseline RF quartiles in patients with early and established RA, over 24 weeks. CZP treatment may be considered in patients with RA irrespective of baseline RF levels and time from diagnosis.

Objectives: To compare overall survival (OS), recurrence free survival (RFS), and cancer-specific survival (CSS) in the long-term follow-up of T1 and T2 clear-cell-Renal Cell Carcinoma (ccRCC) and papillary Renal Cell Carcinoma (pRCC) patients, as well as to determine the risk factors for recurrence and overall mortality. Material and method: Data of patients with kidney tumors obtained from the Urologic Cancer Database - Kidney (UroCaD-K) of Turkish Urooncology Association (TUOA) were evaluated retrospectively. Out of them, patients who had pathological T1-T2 ccRCC and pRCC were included in the study. According to the two histological subtype, recurrence and mortality status, RFS, OS and CSS data were analyzed. Results: RFS, OS and CSS of pRCC and ccRCC were found to be similar. Radiological local invasion was shown to be a risk factor for recurrence in pRCC, and age was the only independent factor affecting overall mortality. Conclusions: There were no differences in survivals (RFS, OS and CSS) of patients with localized papillary and clear cell RCC. While age was the only factor affecting overall mortality, radiological local invasion was a risk factor for recurrence in papillary RCC.

Introduction Obesity is a component of eating disorders grouped under several eating disturbances due to emotional problems. Eating habits are directly influenced by eating disorders. Eating disorder rates in obese patients are reported to be 15-50% in various populations. This study aimed to evaluate obesity related eating habits (OREH) in obese patients who followed in an obesity center. Methods A total of 752 (F/M: 636/116, 42.6G11.6 yrs ) obese patients (BMIO30) who applied to the Obesity Center of Marmara University Pendik Education and Research Hospital (ERH) were included in this cross-sectional study. Obesity is classified as Stage 1 (BMI 30-34.9), Stage 2 (BMI 35-39.9), and Stage 3 (BMIO 40). We evaluated graze eating, night eating, eating addiction, and binge eating in the context of OREH in accordance with the literature. Self-report tests including The Short Inventory of Grazing (SIG), Modified Yale Food Addiction Scale (mYFAS), Night Eating Questionnaire (NEQ), Emotional Eating Scale (EES), and Binge Eating Scale (BES) were given to the patients. OREH results were determined based on these test’s cut-off points. Results Mean BMI was found to be 42.1G6.6 kg/m2 . There were no statistically significant difference between both genders in respect of age and BMI (PO0.05). Mild grazing habits was observed in 136 (18%) cases, moderate grazing in 309 (41%) cases, and severe grazing in 229 (30%) cases. Modarete stage grazing was more common in women (265, 41.6%) and men (44, 47.6%). Binge eating was recorded in 337 of the total (44.8%) patients, in 287 of women (45.1%) and 50 men (43.1%). Emotional eating was present in 113 of the total patients (15%), in 103 of women (16.1%) and 10 men (8.6%). Food addiction were seen in 402 of all cases (53.4%). High stage food addiction was more common in women (169, 51.1%) and men (30, 42.2%). Night eating was found in 225 patients among all (29.9%) with 185 (29%) to be in women and 40 (34.4%) in men. Emotional eating (PZ0.032) and night eating (PZ0.025) were found to be statistically significant in regard of BMI. Conclusion In this cross-sectional study, many of obese patients had obesity related eating habits whereas 65% of all cases had more than one component of obesity related eating habits. Determining the eating disorders prior to obesity treatment are necessary for planning and treatment compliance. DOI: 10.1530/endoabs.90.EP462

Objective Neurofibromatosis type 1 is an autosomal dominant inherited neurocutaneous condition characterized with multipl cafe-au-lait spots, neurofibromas, predisposition to malignancies, and the incidence of disease is 1:3000. Patients are diagnosed according to diagnostic criteria and 97% of the patents meet the criteria before 8 years of old. Diagnosis and follow-up of patients for manifestations of neurofibromatosis is important for early diagnosis and treatment of malignancies. Case Twenty-one year old female patient admitted to neurosurgery outpatient clinic with complaint of scoliosis. She was consultated to endocrinology clinic for low bone mineral density levels and osteoporotic findings in vertebral x-ray examination. In physical examination she was short statured and she had growth retardation. She had multipl cafe-au-lait spots and scoliosis. On right lower limb, she had a brown lesion and after consultation with dermatology clinic it was considered as plexiform neurofibroma. Her bone mineral density level (BMD) in L1-L4 was 1.006, z score was -0.7, femur neck BMD was 0.669 z score was -2.1. Her osteocalcin level was 21.5 ng/ml (9-42), c-telopeptide was 0.23. Hypophysial hormones were evaluated and her IGF-1 level was found to be low according to age reference range. Insulin tolerance test was performed and her growth hormone was found to be 0.206 when her blood glucose was 36 mg/dl. In family history, her mother and brother were also learnt to have multiple cafe-au-lait spots and in physical examination her mother had cutaneous neurofibromas. Neurofibromatosis diagnosis was confirmed after genetic consultation and genetic test. Hamartomatous lesion in both basal ganglia and thalamus and in right frontal lobe were found in cranial magnetic resonaunce imaging (MRI). In abdominal MRI, neurofibromas in right coxofemoral articulation and right acetabulum were found. Her urine metabolites were examined for pheochromacytoma and found in normal levels. Follow-up visits were planned and she was concultated to relevant departments. Her mother and brother were also diagnosed as neurofibromatosis. Discussion and Conclusion Patients with neurfibromatosis have a high predisposition to develop both benign and malign tumours. Although most of the manifestations effect the nervous system, multiple organs and tissues can be affected. Patients can present with different clinical symptoms to different clinics so being aware of the different clinical manifestations of the disease is important for prompt diagnosis. DOI: 10.1530/endoabs.90.EP201

Introduction Various rates were reported regarding diabetes remission and improvement in hyperglycemia in many studies from different populations. Determinants of diabetes remission have not been definitively established so far. In this study, we aimed to evaluate the long-term glycemic status after bariatric surgery in diabetic obese patients followed by Marmara University Endocrinology Outpatient Clinic. Method The retrospective study included 233 type 2 diabetic obese patients who underwent either sleeve gastrectomy or gastric bypass between 2011-2021. Preoperative, postoperative sixth month, first year, and second year data were collected from the patient files. In the analysis of the dependent variables, patients who fulfilled whole visits were included. The glycemic status of diabetic patients at postoperative first and second year visits was classified as complete remission, partial remission, recovery, no change, and recurrence in accordance with the criteria of the American Society of Bariatric and Metabolic Surgery, 2022. Remission ratios were calculated for each visit, seperately. Logistic regression was used to analyse the factors affecting diabetes remission for the whole diabetic group. Results Postoperative BMI values were significantly lower than the preoperative level (P!0,001), additionally remained similar between the first and the second years. BMI change was found to be similar between gastric bypass and sleeve gastrectomy. Fasting blood glucose and HbA1c levels were significantly lower than the preoperative levels as well (P!0,001). 24.9% (nZ58) of the patients were on insulin preoperatively. This ratio was found to be 3.5% (nZ6) in the first year and 3.3% (nZ4) in the second year. Complete remission rate was 68.0% (nZ132) in the first year. In the second year, complete remission and recurrence rates were 59.5% (nZ72) and 8.3% (nZ10), respectively. Remission rates were similar among the two surgical procedures. To determine the factors affecting remission across the whole sample, a regression model was conducted. Duration of diabetes, preoperative insulin usage, preoperative BMI, and the type of the surgery were included in the model. Preoperative insulin use of patients was associated to diabetes remission outcomes. Patients who were not taking insulin before the surgery were more likely to experience postoperative diabetes remission (ORZ7.523, P!0.001, 95%CI 3,075-18.404 for the 1st year; ORZ 5.096, PZ0.002, 95%CI 1.781-14.577 for the 2nd year). Conclusion At the postoperative first and second year checkpoints, complete remisson rates were 68.0% and 59.5%, and recurrence rate was 8.3% in the second year. Not using insulin preoperatively made the probability of diabetes remission 5.1 times higher. DOI: 10.1530/endoabs.90.P56

Glofitamab is a CD3xCD20 bi-specific antibody with two fragments directed to the CD20 antigen and a single CD3-binding fragment. Encouraging response and survival rates were recently reported in a pivotal phase II expansion trial conducted in patients with relapsed/refractory (R/R) B-cell lymphoma. However, the real-world data of patients of all ages with no strict selection criteria are still lacking. Herein, this retrospective study aimed to evaluate the outcomes of diffuse large B-cell lymphoma (DLBCL) patients who received glofitamab via compassionate use in Turkey. Forty-three patients from 20 centers who received at least one dose of the treatment were included in this study. The median age was 54 years. The median number of previous therapies was 4, and 23 patients were refractory to first-line treatment. Twenty patients had previously undergone autologous stem cell transplantation. The median follow-up time was 5.7 months. In efficacy-evaluable patients, 21% and 16% of them achieved complete response and partial response, respectively. The median response duration was 6.3 months. The median progression-free survival (PFS) and overall survival (OS) was 3.3 and 8.8 months, respectively. None of the treatment-responsive patients progressed during the study period, and their estimated 1-year PFS and OS rate was 83%. The most frequently reported toxicity was hematological toxicity. Sixteen patients survived, while 27 died at the time of the analysis. The most common cause of death was disease progression. One patient died of cytokine release syndrome during the first cycle after receiving the first dose of glofitamab. Meanwhile, two patients died due to glofitamab-related febrile neutropenia. This is the largest real-world study on the effectiveness and toxicity of glofitamab treatment in R/R DLBCL patients. The median OS of 9 months seems promising in this heavily pretreated group. The toxicity related mortality rates were the primary concerns in this study.

Peritoneal dialysis is a home based therapy for patients with advanced chronic kidney disease. This method provides adequate clearance of uremic toxins and removal of excess fluid when a proper dialysis prescription is combined with patient adherence. Peritonitis is the most frequent infectious complication among these patients and may render the continuity of the treatment. Training patients and their caregivers have prime importance to provide proper treatment and prevent complications including infectious ones. The training methods before the onset of treatment are relatively well established. However, patients may break the rules in the long term and tend to take shortcuts. So, retraining may be necessary during follow-up. There are no established guidelines to guide the retraining of PD patients yet. This review tends to summarize data in the literature about retraining programs and also proposes a structured program for this purpose.

Objective: The aim of this study was to investigate the role of vitamin D replacement therapy on advanced glycation end-products in prediabetes and type 2 diabetes mellitus patients with vitamin D deficiency. Methods: One hundred twenty subjects with serum 25-hydroxyl vitamin D levels less than 20 ng/mL were included in the study. Forty type 2 diabetes mellitus patients (type 2 diabetes mellitus group), 40 prediabetes patients (prediabetes group), and 40 non-diabetes controls (non-diabetes group) were given oral vitamin D3 50 000 units/week for 8 weeks as loading and followed by 1500 U/day as a maintenance dose. We measured serum 25-hydroxyl vitamin D, glycated hemoglobin, carboxymethyl lysine levels, and skin autofluorescence before and on the fourth month of the therapy. Results: Basal serum carboxymethyl lysine and skin autofluorescence measurement in type 2 diabe-tes mellitus and prediabetes groups were significantly higher than the non-diabetes group. While no difference was found between glycated hemoglobin and skin autofluorescence, serum carboxy-methyl lysine levels were significantly elevated for each group following vitamin D replacement. Conclusions: Vitamin D loading did not affect skin advanced glycation end-product levels and gly-cated hemoglobin but was associated with increased serum carboxymethyl lysine levels in all groups.

Objective: To share our clinical experience with cognitive prostate biopsy and compare results of cognitive biopsies with standard biopsies.

Purpose The study aimed to evaluate the possible preventive effect of two concentrations (3 and 5% w/w) of Eugenia jambolana (EJ) extract against 5-FU-induced mucositis. Method Sixteen adult rats were separated into four groups: two control and two preventive groups. Animals in Groups 1, 2, and 3 were injected intraperitoneally with 60 mg/kg/day of 5-FU on Day 1 followed by 150 mg/kg/day on Day 5. The rats in Group 4 (negative control) were given physiological saline at the same times and doses. Furthermore, on the fifth day of the study, the cheek and sublingual mucosa were irritated by external superficial scratches using the tip of an 18-G needle, followed by the application 15 µL of 20% acetic acid, after which 3 and 5% EJ w/w gels were applied topically for animals in Groups 2 and 3, respectively. Results The weight and the mucositis scores were recorded. Antioxidant and anti-inflammatory markers and biochemical tests were analyzed. Significant differences were found between the study groups in weight loss, clinical mucositis scores, mortality rates, and antioxidant and anti-inflammatory parameters. Conclusion The preventive effect of 3% gel was significant, with no mortality rate, making it an option for preventive strategies. WOS:000800703000002 2-s2.0-85130847543 PMID: 35622166

Neoadjuvant chemotherapy (NACT) in gastroesophageal junction (GEJ) and gastric cancer (GC) was shown to improve survival in recent studies. We aimed to share our real-life experience of patients who received NACT to compare the efficacy and toxicity profile of different chemotherapy regimens in our country. This retrospective multicentre study included locally advanced GC and GEJ cancer patients who received NACT between 2007 and 2021. Relation between CT regimens and pathological evaluation were analysed. A total of 794 patients from 45 oncology centers in Turkey were included. Median age at the time of diagnosis was 60 (range: 18-86). Most frequent NACT regimens used were FLOT (65.4\%), DCF (17.4\%) and ECF (8.1\%), respectively. In the total study group, pathological complete remission (pCR) rate was 7.2\%, R0 resection rate 86.4\%, and D2 dissection rate was 66.8\%. Rate of pCR and near-CR (24\%), and R0 resection (84\%) were numerically higher in FLOT arm (p > 0.05). Patients who received FLOT had also higher chemotherapy-related toxicity rate compared to patients who received other regimens (p > 0.05). Median follow-up time was 16 months (range: 1-154 months). Estimated median overall survival (OS) was 58.4months (95\% CI: 35.2-85.7) and disease-free survival (DFS) was 50.7 months (95\% CI: 25.4-75.9). The highest 3-year estimated OS rate was also shown in FLOT arm (68\%). We still do not know which NACT regimen is the best choice for daily practice. Clinicians should tailor treatment regimens according to patients' multifactorial status and comorbidities for to obtain best outcomes. Longer follow-up period needs to validate our results.

There are various oral symptoms related to the disease and its management in individuals with chronic kidney disease (CKD). The aim of the study was to investigate the oral health status of children with different stages of CKD, kidney transplant recipients (KTR), and healthy children.A total of seventy-one children diagnosed with CKD and fifty-two healthy children were included in the study. Each patient was examined for dental caries by the decayed-missing-filled-teeth (DMFT/dmft) index and the International Caries Detection and Assessment System (ICDAS-II), developmental defects of enamel (DDE) by the DDE index, and oral hygiene by the debris (DI), calculus (CI), and simplified oral hygiene (OHI-S) indices.The median number of DMFT/dmft was 1.00 (interquartile range (IQR):1.00-4.00) in children with stage 1-3 CKD, 0.00 (IQR: 0.00-2.50) in stage 4-5 children, 0.00 (IQR: 1.00-3.00) in KTR, and 8.00 (IQR: 1.00-13.00) in healthy children. According to ICDAS-II categories, the percentage of children with severe caries was 53.8% in healthy children, while it was 44.4% in KTR, 25.9% in stage 1-3, and 11.4% in stage 4-5 children. While the percentage of children with DDE was 88.8% in KTR, 80% in stage 4-5, and 66.7% in stage 1-3 children, this rate was 44.2% in healthy children. The highest mean OHI-S score was observed in stage 4-5 children (2.10 ± 1.08), followed by KTR (1.46 ± 1.19), stage 1-3 (1.27 ± 0.61), and healthy children (0.45 ± 0.44), respectively.Compared to healthy children, children with CKD had more debris accumulation, calculus formation, and more DDE but a lower severity of dental caries. A higher resolution version of the Graphical abstract is available as Supplementary information.

Aim We previously reported that some urodynamic parameters change with repetitive filling in children with neurogenic lower urinary tract dysfunction (LUTD). In this study, we aimed to search if three-times repeated filling cystometries (FC) and pressure-flow studies (PFS) would change the urodynamics parameters in children with non-neurogenic LUTD. Materials and Methods All children with three repeated FC and PFS between June 2017 and December 2018 were included in the study. Urodynamic reports and charts were evaluated retrospectively. The first sensation of bladder filling (FSBF), maximum cystometric capacity (MCC), detrusor pressure at the FSBF (P-det.first.sens), maximum detrusor pressure during filling (P-det.fill.max), presence of detrusor over activity, compliance, maximum urine flow (Qmax), detrusor pressure at the maximum urine flow (PdetQmax), residual urine and presence of detrusor sphincter dyssynergy (DSD) were compared among three-times repeated urodynamic studies. Results Forty children were included in the study. 27 (67.5%) were girls and 13 (32.5%) were boys. Median age was 9 (3.4-17) years. Indications were LUTD with low grade vesicoureteral reflux in 19 (47.5%), LUTD refractory to conservative management in 13 (32.5%), urinary tract infection with LUTD in 6 (15%) and secondary enuresis in 2 (5%). P-det.first.sens, presence of DO, MCC, Qmax, PdetQmax, residual urine, flow pattern, and presence of DSD were comparable in all three repeated tests. The third FC may show decreased filling detrusor pressures and increased compliance with no change on capacity. Conclusion In children with non-neurogenic LUTD, three-times repeated FC and PFS present comparable results except FSBF, P-det.fill.max,P- and compliance at the third test.

Objective: Mobile applications have been used frequently in post-operative orthopedic rehabilitation in recent years. However, no systematic review has emphasized the importance of mobile applications in the rehabilitation process after total knee arthroplasty (TKA). This systematic review and meta-analysis aimed to evaluate the effectiveness of mobile application-based rehabilitation practices in patients with TKA. Material and Methods: PubMed, Web-of-Science, Scopus, ScienceDirect and Cochrane databases were searched. The Physiotherapy Evidence Database (PEDro) and the Revised Cochrane risk-of-bias tool randomized trials 2 (RoB2) tools were used to demonstrate the methodological quality and risk of bias. Results: A total of 584 articles were screened. Finally, six papers were included in the systematic review. PEDro scores ranged from 4 to 7 (median: 5.5), indicating fair to good methodological quality. All studies were classified as \"some concerns\" in RoB2. Mobile application-based rehabilitation demonstrated better scores on pain, range of motion (ROM), objective and subjective function, satisfaction and compliance in general. Meta-analysis proved that mobile application-based telerehabilitation demonstrated better results on subjective function (ES:0.57, 95% CI: 0.11–1.02). Conclusion: Compared to conventional rehabilitation, application-based telerehabilitation provides more effective results in function, pain and ROM. Furthermore, mobile application-based rehabilitation should also be considered regarding patient satisfaction and compliance.

This study aimed to evaluate the autonomic dysfunction as assessed by the Composite Autonomic Symptom Score-31 (COMPASS-31) as well as its relationship with disease activity and cardiovascular risks in patients with psoriatic arthritis (PsA). This cross-sectional observational study involved 118 PsA patients (85 females, mean age 45.6 years) and 64 healthy subjects. Cardiovascular risks were recorded including body mass index (BMI), hypertension (HT), diabetes mellitus (DM), dyslipidemia, metabolic syndrome (MetS), and 10-year Framingham Risk scores (FRS) were calculated. PsA was assessed with regard to disease activity, quality of life, and function. Autonomic dysfunction was evaluated using the COMPASS-31 consisting of six subdivisions including orthostatic, vasomotor, secretomotor, gastrointestinal, bladder, and pupillomotor functions. The mean disease duration was 63.3 months. The mean total COMPASS-31 score was significantly higher in PsA patients than in controls (24.4 vs 11.1; p < 0.001), as were all sub-domain scores. COMPASS-31 scores were significantly lower in patients with DAPSA-REM and MDA. The COMPASS-31 total score showed significant correlations with scores of pain, global assessment, fatigue, function, quality of life, DAPSA, and BASDAI (p < 0.05).The presence of HT, dyslipidemia, MetS, and abdominal obesity did not significantly affect the total COMPASS-31 and sub-domain scores, except for the secretomotor scores being significantly higher in patients with abdominal obesity and MetS (p < 0.05). COMPASS-31 scores were not significantly different across the FRS risk groups. The symptoms of autonomic dysfunction are prevalent in PsA patients. High disease activity and pain have negative effects on autonomic function, and also functional impairment, fatigue, and poor quality of life are associated with autonomic dysfunction. However, the COMPASS-31 was found to be insufficient to demonstrate a clear relationship between autonomic dysfunction and cardiovascular risk.

In this review, it is aimed to illuminate the place of testicular sparing surgery in childhood testicular tumors in the light of current literature. The importance of organ-sparing surgery is highlighted because a significant portion of childhood testicular tumors are benign and organ-sparing surgery reduces morbidity without affecting disease-related survival. Testis sparing surgery can be considered as an alternative to radical inguinal orchiectomy in synchronous bilateral testicular tumors, metachronous contralateral tumors, and in the presence of normal solitary testis if preoperative testosterone level is normal and the tumor size is less than 30% of the testicular volume. However, definite recommendations could not be determined due to the lack of literature data.

BACKGROUND: Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations. METHODS: We included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands carrying pathogenic variations were screened via Sanger sequencing. RESULTS: Among 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene, 3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state. CONCLUSION: In this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations.

Objectives This study aimed to assess patients with axial psoriatic arthritis (AxPsA) using the Canadian Spondyloarthritis Research Consortium (SPARCC) sacroiliac joint (SIJ) scores and to seek correlations between magnetic resonance imaging (MRI) scores and disease characteristics. Methods Forty PsA patients (32 females, mean age 46.4 years) who had been documented to have active or structural lesions on SIJ MRI were retrospectively evaluated. Disease duration, medications, and disease activity, including Disease Activity in Psoriatic Arthritis (DAPSA), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), minimal disease activity (MDA), and Ankylosing Spondylitis Disease Activity Score (ASDAS) were recorded. On sacroiliac MRI scans, the SPARCC scores of sacroiliac joint inflammation (SIS) and sacroiliac joint structural damage (SSS) were evaluated. Results The mean disease duration was 51.4 +/- 70.4 months. MRI showed active inflammation in 30 patients (75%) and at least 1 structural lesion in 32 patients (92.5%). The most prevalent structural lesion was erosion (82.5%), followed by fat metaplasia (65%), backfill (12.5%), and ankylosis (2.5%). Only fat metaplasia scores were significantly higher in men than in women (P = .007). Of clinical and laboratory parameters, only C-reactive protein (CRP) was significantly higher in the presence of active inflammation (P = .01). The SIS score was significantly correlated with disease duration (r = -.35) and CRP levels (r = .42,). The SSS score was inversely correlated with BASDAI (r = -.37), ASDAS-CRP (r = -.39), and ASDAS - erythrocyte sedimentation rate (r = -.32). The overall SPARCC scores did not differ between patients in DAPSA remission and non-remission and between those in MDA and non-MDA. Conclusion Although radiologic involvement is generally not severe in AxPsA, MRI still provides additional information about inflammatory activity and structural lesions. CRP may be helpful in monitoring the radiologic disease activity in AxPsA.

Introduction: Endogenous Cushing’s syndrome (CS) is a rare, severe disease that can cause multiple systemic involvement and behavioral problems due to excessive cortisol production. Structural changes can be noted in the brain magnetic resonance imaging (MRI) scans of these cases. Cases: A 9-year-old girl and a 13-year-old boy were admitted with hypercortisolism. In the female patient, altered consciousness was prominent along with cerebral and cerebellar brain atrophy, and findings indicating posterior reversible encephalopathy syndrome were detected in the brain MRI. Although the male patient's neurological examination was normal, significant cerebral atrophy was seen in the brain MRI. Case 1 was diagnosed as having ectopic ACTH syndrome (EAS) due to a thymic carcinoid tumor. Case 2 underwent a pulmonary lobectomy upon detection of a bronchial lesion in the Ga-68 DOTATATE PET/CT scan while being examined for EAS due to a lack of suppression in the high-dose dexamethasone suppression test. However, hypercortisolism persisted despite the removal of the bronchial lesion, and subsequently, a diagnosis of Cushing’s disease was established following bilateral inferior petrosal sinus sampling. Discussion: Endogenous hypercortisolism may cause brain atrophy of varying severity. Central nervous system findings can be overlooked in children with CS. More comprehensive studies are needed to better understand the behavioral changes caused by the effects on the brain and to evaluate whether these changes are reversible. In addition, identifying the source of hypercortisolism can be difficult due to a lack of experience related to the rarity of the disease in children.

Context Stress triggers a cascade of reactions that alter the organism's dynamic steady state. There is a scarcity of interventional studies that show cortisol variability upon stress over time in groups of patients with chronic noncommunicable diseases and comorbidities. Objective We aimed to examine salivary cortisol changes in the cognitive stress response of patients with hypertension and diabetes mellitus (HT&DM) and patients with hypertension (HT) and to determine differences between them. Methods The study was conducted using a stress test of solving an arithmetic task in 62 patients with HT&DM and HT who were being treated in the outpatient clinic of the Medical Pharmacology and Clinical Pharmacology Department in Istanbul University, Istanbul Medical Faculty Hospital. Results There was no statistically significant difference between the HT&DM and HT groups for systolic blood pressure (SBP) and diastolic blood pressure (DBP) values (P = .331 and P = .058). When measured by repeated ANOVA, salivary cortisol level [F (1.842, 60) = 8.771, P < .0001], SBP [F (2.185, 60) = 12.080, P < .0001], DBP [F (2.793, 60) = 6.043, P = .001], and heart rate [F (2.073, 60) = 13.259, P < .0001] were statistically significant for the main effect (time), while the effect of the group × time interaction factor was statistically not significant (P = .773; P = .751; P = .713 and P = .506, respectively). Conclusion The arithmetic problem-solving task used with the HT&DM and HT patients was useful as an acute stress test in the laboratory environment. There was no statistically significant difference for group × time interaction factor between the HT&DM and HT groups; however, the salivary cortisol and BP values increased significantly after acute stress within each group.

Objectives: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations.Methods: 102 patients with CPP included. 53 of them had family history of CPP in the first and/or second-degree relatives. MKRN3 gene was analyzed by next-generation sequencing.Results: Possible pathogenic variants were found in 2/53 patients with family history of CPP (3.8%) and 1/49 patient without family history (2%). A novel heterozygous c.1A > G (p.Met1Val) mutation, a novel heterozygous c.683_684delCA (p.Ser228*) and a previously reported c.482dupC (Ala162Glyfs*) frameshift variations were detected. The two novel variants are predicted to be pathogenic in silico analyses.Conclusions: In our cohort, possible pathogenic variants in MKRN3 gene were detected in 2.9% of the total cohort, 3.8% of the familial and 2% of the nonfamilial cases, slightly lower than that reported in the literature. Two novel variants detected contribute to the molecular repertoire of MKRN3 defects in CPP. Classical pattern of paternal inheritance has been demonstrated in all three cases. However, the father of the patient 3 did not have history of CPP suggesting that the father inherited this variant from his mother and had phenotype skipping. Therefore, we emphasize that the absence of history of CPP in the father does not exclude the possibility of a MKRN3 mutation.