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Many developing countries lack access to recommended first-line treatments for metastatic renal cell carcinoma (mRCC), such as immune checkpoint inhibitors (ICIs) or ICI-tyrosine kinase inhibitor (TKI) combinations. As a result, predictive markers are necessary to identify patients who may benefit from single-agent TKIs for long-term response. This study aims to identify such parameters. This was a multi-centre, retrospective study of patients with mRCC who were undergoing first-line treatment with sunitinib or pazopanib. Patients who had been diagnosed with mRCC and had not experienced disease progression for 36 months or more were deemed to have achieved a long-term response. Predictive clinical and pathological characteristics of patients who did not experience long-term disease progression were investigated. A total of 320 patients from four hospitals were included in the study. The median age of the patients was 60 years (range 20-89 years). According to the International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) risk classification, 109 patients were classified as having favourable risk and 211 were in the intermediate-poor risk group. The median progression-free survival (PFS) and overall survival (OS) for all patients were 12.5 months and 76.4 months, respectively. In the long-term responder's group, the median PFS was 78.4 months. Among all patients, prior nephrectomy, the Eastern Cooperative Oncology Group (ECOG) Performance Status (PS) <1, and the absence of brain metastasis were predictive factors for long-term response. For patients in the favourable risk group, the lack of brain metastasis was a predictor of long-term response. In the intermediate-poor risk group, prior nephrectomy and ECOG PS <1 were predictive factors for long-term response. Some individuals with mRCC may experience a durable response to TKIs. The likelihood of a long-term response can be determined by factors such as nephrectomy, ECOG PS < 1, and the absence of brain metastases.

Objective: To investigate the impact of cumulative cisplatin dose on clinical outcomes in locally advanced cervical cancer patients undergoing definitive chemoradiotherapy., Methods: A retrospective analysis was conducted on 654 patients with stage IB3-IVA disease treated with definitive chemoradiotherapy. Radiotherapy was applied as external beam pelvic with or without para-aortic radiotherapy and brachytherapy. Concomitant chemotherapy was in the form of weekly or 3 weekly cisplatin. Data on demographics, treatment protocols, cumulative cisplatin dose, adverse effects, and survival outcomes were collected. Statistical analyses, including univariate and multivariate Cox regression models, were used to assess factors influencing progression free survival and overall survival., Results: The median cumulative cisplatin dose was 210 mg (range 40-320), and ≥200 mg in 503 (76.9%) patients. Median follow-up was 35 months (range 1-150). The 5 year progression free survival and overall survival rates were 66.9% and 77.1%, respectively. Multivariate analysis identified poor performance status, non-squamous cell histology, presence of lymph node metastases, and hemoglobin <10 g/dL before chemoradiotherapy as poor prognostic factors for both progression free survival and overall survival in the whole group. When stage III cases were evaluated separately, the cumulative cisplatin dose <200 mg was found to be a significant poor prognostic factor in overall survival (hazard ratio 1.79, 95% confidence interval 1.1 to 3.0, p=0.031)., Conclusion: Our study showed that a cumulative cisplatin dose >200 mg, particularly in patients with lymph node metastases, significantly improved overall survival. Factors such as anemia, toxicity related challenges, and comorbidities were identified as critical considerations in treatment planning. These findings emphasize the balance between maximizing therapeutic efficacy and managing toxicity, guiding personalized treatment approaches for locally advanced cervical cancer., Competing Interests: Competing interests: None declared., (© IGCS and ESGO 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives: Head and neck cancers (HNCs) represent a significant global health concern due to high morbidity and mortality rates. Despite therapeutic advances, the prognosis for advanced or recurrent cases remains challenging. Nivolumab obtained approval for recurrent or metastatic HNC based on the Phase III CheckMate 141 trial. This study aimed to evaluate the real-world outcomes of nivolumab in patients with non-nasopharyngeal HNC., Design: In this multicenter retrospective study, we analyzed 124 patients with recurrent or metastatic non-nasopharyngeal HNC who received nivolumab in the second-line setting and beyond. Data were collected from 20 different cancer centers across Turkey. The effectiveness and safety of the treatment and survival outcomes were evaluated., Results: Nivolumab exhibited favorable clinical responses, yielding an objective response rate of 29.9% and a disease control rate of 55.7%. Safety assessments revealed a generally well-tolerated profile, with no instances of treatment discontinuation or mortality due to side effects. Survival analysis disclosed a median overall survival (OS) of 11.8 (95% CI 8.4-15.2) months. Multivariate analysis revealed that ECOG-PS ≥ 1 (HR: 1.64, p = 0.045), laryngeal location (HR: 0.531, p = 0.024), and neutrophil-to-lymphocyte ratio > 3.5 (HR: 1.97, p = 0.007) were independent predictors of OS., Conclusions: Nivolumab is an effective and safe treatment option for patients with recurrent or metastatic non-nasopharyngeal HNC in real-world settings. Further studies are needed on factors affecting response to treatment and survival outcomes., (© 2024. The Author(s).)

Background: Migraine is a disease characterized by headache attacks. The disease is multifactorial in etiology and genetic and environmental factors play role in pathogenesis. Migraine can also be accompanied by psychiatric disorders like neurotism and obsessive compulsive disorder. Stress, hormonal changes and certain food intake can trigger attacks in migraine. Previous studies showed that eating attitudes and disorders are prevalant in patients with migraine. Eating disorders are psychiatric disorders related to abnormal eating habits. Both migraine and eating disorders are common in young women and personality profiles of these patient groups are also similar. A possible relationship which shows that migraine and eating habits are related can lead to a better understanding of disease pathogenesis and subsequently new therapeutic options on both entities. Association of migraine in relation to severity, depression and anxiety and eating habits and disorders were aimed to be investigated in this study., Methods: The study was designed as a prospective, multi-center, case control study. Twenty-one centers from Turkey was involved in the study. The gathered data was collected and evaluated at a single designated center. From a pool of 1200 migraine patients and 958 healthy control group, two groups as patient group and study group was created with PS matching method in relation to age, body-mass index, marital status and employment status. Eating Attitudes Test-26 (EAT-26), Beck's Depression Inventory (BDI) and Beck's Anxiety Inventory (BAI) were applied to both study groups. The data gathered was compared between two groups., Results: EAT-26 scores and the requirement for referral to a psychiatrist due to symptoms related to eating disorder were both statistically significantly higher in patient group compared to control group (p = 0.034 and p = 0.0001 respectively). Patients with migraine had higher scores in both BDI and BAI compared to control group (p = 0.0001 and p = 0.0001 respectively). Severity of pain or frequency of attacks were not found to be related to eating attitudes (r:0.09, p = 0.055)., Conclusions: Migraine patients were found to have higher EAT-26, BDI and BAI scores along with a higher rate of referral to a psychiatrist due to symptoms. Results of the study showed that eating habits are altered in migraine patients with higher risk of eating disorders. Depression and anxiety are also found to be common amongst migraine patients., (© 2024. The Author(s).)

Background and Objectives : Real-life data on the efficacy of biologic agents (BAs) on asthma-comorbid CRSwNP are needed. Our primary goal is to investigate the effects of BAs on CRSwNP symptoms, as well as endoscopic and tomography scores. Our secondary goal is to show a reduction in the frequency of acute sinusitis exacerbations and the need for surgery. Materials and Methods : We conducted a multicenter, retrospective, real-life study. We screened the patients with asthma-comorbid CRSwNP treated with omalizumab or mepolizumab. A total of 69 patients (40 F/29 M; omalizumab n = 55, mepolizumab n = 14) were enrolled. We compared the visual analog scale (VAS), sinonasal outcome test-22 (SNOT-22), nasal congestion score (NCS), Lund-Mackay computed tomography score (LMS), and total endoscopic polyp scores (TPS) before and after BAs. We evaluated the endoscopic sinus surgery (ESS) and acute exacerbations of chronic rhinosinusitis (AECRS) frequencies separately, according to the BAs. Results: The overall median (min-max) age was 43 (21-69) years. The median (min-max) of biologic therapy duration was 35 (4-113) months for omalizumab and 13.5 (6-32) for mepolizumab. Significant improvements were seen in VAS, SNOT-22, and NCS with omalizumab and mepolizumab. A significant decrease was observed in TPS with omalizumab [95% CI: 0-4] ( p < 0.001), but not with mepolizumab [95% CI: -0.5-2] ( p = 0.335). The frequency of ESS and AECRS were significantly reduced with omalizumab [95% CI: 2-3] ( p < 0.001) and [95% CI: 2-5] ( p < 0.001); and mepolizumab [95% CI: 0-2] ( p = 0.002) and [95% CI: 2-8.5] ( p < 0.001), respectively. There was no significant difference in LMS with either of the BAs. Conclusions: Omalizumab and mepolizumab can provide a significant improvement in the sinonasal symptom scores. BAs are promising agents for CRSwNP patients with frequent exacerbations and multiple surgeries.

Objective: To evaluate the serotype distribution and antibiotic resistance in pneumococcal infections in adults and to provide a perspective regarding serotype coverage of both current and future pneumococcal vaccines., Patients and Methods: This passive surveillance study was conducted with the Streptococcus pneumoniae strains isolated from the specimens of patients with pneumonia (materials isolated from bronchoalveolar lavage), bacteraemia, meningitis, pleuritis and peritonitis between 2015 and 2018. Serogrouping and serotyping were performed by latex particle agglutination and by conventional Quellung reaction using commercial type-specific antisera, respectively. The strains were analysed for penicillin, cefotaxime, erythromycin and moxifloxacin susceptibilities by E-test., Results: In the whole study group (410 samples from adults aged ≥18 years), the most frequent serotypes were 3 (14.1%), 19 F (12%) and 1 (9.3%). The vaccine coverage for PCV13, PCV15, PCV20 and PPV23 was 63.9%, 66.6%, 74.1% and 75.9%, respectively, in all isolates. Penicillin non-susceptibility in invasive pneumococcal disease (IPD) was 70.8% and 57.1% in the patients aged <65 and ≥65 years, respectively. About 21.1% and 4.3% of the patients with and without IPD had cefotaxime resistance. Non-susceptibility to erythromycin and moxifloxacin was 38.2% and 1.2%, respectively., Conclusions: The results revealed that novel PCV vaccines may provide improved coverage as compared with the currently available vaccine, PCV13. The significant antibiotic resistance rates imply the need to extend the serotype coverage of the vaccines. Continuing the surveillance in pneumococcal diseases is critical to explore the serotype distribution and incidence changes of IPD cases in the population and to inform policy makers to make necessary improvements in the national immunization programmes.Key messagesThis multicentre study demonstrated the most recent serotype distribution and antibiotic resistance in adult population in Turkey.Shifting from PCV13 to novel conjugated vaccines will significantly increase the coverage.Continuing the surveillance in pneumococcal diseases is critical to explore the serotype distribution changes and the incidence of cases with invasive pneumococcal disease in the population.

The aim of the study was to evaluate the real-world clinical outcomes of atezolizumab and bevacizumab (Atez/Bev) as the initial therapy for advanced hepatocellular carcinoma (HCC). We retrospectively analyzed 65 patients treated with Atez/Bev for advanced HCC from 22 institutions in Turkey between September 2020 and March 2023. Responses were evaluated by RECIST v1.1 criteria. The median progression-free survival (PFS) and overall survival (OS) were calculated using the Kaplan-Meier method. Cox regression model was employed to conduct multivariate analyses. The median age was 65 (range, 22-89) years, and 83.1% of the patients were male. A total of 1.5% achieved a complete response, 35.4% had a partial response, 36.9% had stable disease, and 26.2% had progressive disease. The disease control rate was 73.8% and associated with alpha-fetoprotein levels at diagnosis and concomitant antibiotic use. The incidence rates of any grade and grade ≥ 3 adverse events were 29.2% and 10.7%, respectively. At a median follow-up of 11.3 (3.4-33.3) months, the median PFS and OS were 5.1 (95% CI: 3-7.3) and 18.1 (95% CI: 6.2-29.9) months, respectively. In univariate analyses, ECOG-PS ≥ 1 (relative to 0), Child-Pugh class B (relative to A), neutrophil-to-lymphocyte ratio (NLR) > 2.9 (relative to ≤ 2.9), and concomitant antibiotic use significantly increased the overall risk of mortality. Multivariate analysis revealed that ECOG-PS ≥ 1 (HR: 2.69, P = .02), NLR > 2.9 (HR: 2.94, P = .017), and concomitant antibiotic use (HR: 4.18, P = .003) were independent predictors of OS. Atez/Bev is an effective and safe first-line therapy for advanced-stage HCC in a real-world setting. The survival benefit was especially promising in patients with a ECOG-PS score of 0, Child-Pugh class A, lower NLR, and patients who were not exposed to antibiotics during the treatment., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Encapsulated papillary carcinoma (EPC) is a rare malignant papillary breast cancer accounting for approximately .5%-2% of all breast tumors. The aim of this multicenter study was to evaluate clinicopathologic features of EPC in addition to oncological outcomes and radiotherapy (RT) details., Methods: From 10 different academic hospitals in Turkey, we obtained pathology reports of 80 patients with histologically confirmed EPC between 2005 and 2022. Demographic, diagnostic, and treatment data were collected from medical records, retrospectively. Local failure, distant progression, toxicity-adverse effects, overall survival (OS), and disease-free survival were evaluated, and survival analyzes were performed using the Kaplan-Meier method., Results: Eighty patients with the diagnosis of misspelled sorry (ECP) were retrospectively evaluated. The median age of the patients was 63 (range, 35-85). After a median follow-up of 48 (range; 6-206) months, local recurrence was observed in three patients (4%). Local recurrence was less common in the patients who received whole breast RT with a tumour bed boost (p = .025). There were not any distant metastasis or disease-related death. RT was applied to 61% of the cases, and no treatment-related grade 3 or higher toxicity was reported in any of the patients. Five year OS, cancer-specific survival (CSS), and  were observed as 85%, 100%, and 96%, respectively., Conclusions: ECP is a rare, slow-progressing breast carcinoma associated with good prognosis, it is a disease of elderly patient, and usually occurs in postmenopausal women. It responds extremely well to optimal local treatments and appropriate adjuvant treatments on a patient basis, and has excellent OS and CSS ratios., (© 2022 John Wiley & Sons Australia, Ltd.)

Background: We aimed to evaluate patients with nasopharyngeal carcinoma (NPC) in a nonendemic population., Methods: In a national, retrospective, multicenteric study, 563 patients treated with intensity modulated radiotherapy at 22 centers between 2015 and 2020 were analyzed., Results: Median age was 48 (9-83), age distribution was bimodal, 74.1% were male, and 78.7% were stage III-IVA. Keratinizing and undifferentiated carcinoma rates were 3.9% and 81.2%. Patients were treated with concomitant chemoradiotherapy (48.9%), or radiotherapy combined with induction chemotherapy (25%) or adjuvant chemotherapy (19.5%). After 34 (6-78) months follow-up, 8.2% locoregional and 8% distant relapse were observed. Three-year overall survival was 89.5% and was lower in patients with age ≥50, male sex, keratinizing histology, T4, N3 and advanced stage (III-IVA)., Conclusions: Patients with NPC in Turkey have mixed clinical features of both east and west. Survival outcomes are comparable to other reported series; however, the rate of distant metastases seems to be lower., (© 2023 Wiley Periodicals LLC.)

Purpose: After the emergence of the pandemic caused by the COVID-19 virus, vaccination with various vaccines has started to be implemented across the world. To identify dermatological reactions developing after the COVID-19 vaccines administered in Turkey and determine their clinical features and risk factors that may play a role in their development., Materials and Methods: The study included patients aged ≥18 years, who presented to 13 different dermatology clinics in Turkey between July 2021 and September 2021 after developing dermatological reactions following the administration of the COVID-19 vaccine. After providing written consent, the patients were asked to complete a standard survey including questions related to age, gender, occupation, comorbidities, the regular medication used, the onset of cutaneous reactions after vaccination, and localization of reactions. Dermatological reactions were categorized according to whether they developed after the first or second dose of the vaccine or whether they occurred after the inactivated or messenger RNA (mRNA) vaccine. The relationship between dermatological reactions and some variables such as gender and comorbidities was also evaluated., Results: A total of 269 patients [116 women (43.1%), 153 men (56.9%)] were included in the study. It was observed that the dermatological diseases and reactions that most frequently developed after vaccination were urticaria (25.7%), herpes zoster (24.9%), maculopapular eruption (12.3%), and pityriasis rosea (4.5%). The rate of dermatological reactions was 60.6% after the administration of the mRNA vaccine and 39.4% after that of the inactivated vaccine. There was a statistically significantly higher number of reactions among the patients that received the mRNA vaccine (p = 0.001)., Conclusion: The most common reactions in our sample were urticaria, herpes zoster, and maculopapular eruption. Physicians should know the dermatological side effects of COVID-19 vaccines and their clinical features., (© 2022 The Authors. Journal of Cosmetic Dermatology published by Wiley Periodicals LLC.)

Aim: Multisystem inflammatory syndrome in children (MIS-C) may cause shock and even death in children. The aim of this study is to describe the clinical features, laboratory characteristics and outcome of children diagnosed with MIS-C in 25 different hospitals in Turkey., Methods: The retrospective study was conducted between 8 April and 28 October 2020 in 25 different hospitals from 17 cities. Data were collected from patients' medical records using a standardised form. Clinical and laboratory characteristics and outcomes according to different age groups, gender and body mass index percentiles were compared using multivariate logistic regression analysis., Results: The study comprised 101 patients, median age 7 years (interquartile range (IQR) 4.6-9.3); 51 (50.5%) were boys. Reverse-transcriptase polymerase chain reaction (PCR) assay was positive in 21/100 (21%) patients; 62/83 (74.6%) patients had positive serology for SARS-CoV-2. The predominant complaints were fever (100%), fatigue (n = 90, 89.1%), and gastrointestinal symptoms (n = 81, 80.2%). Serum C-reactive protein (in 101 patients, median 165 mg/L; range 112-228), erythrocyte sedimentation rate (73/84, median 53 mm/s; IQR 30-84) and procalcitonin levels (86/89, median 5 μg/L; IQR 0.58-20.2) were elevated. Thirty-eight patients (37.6%) required admission to intensive care. Kawasaki disease (KD) was diagnosed in 70 (69.3%) patients, 40 of whom had classical KD. Most patients were treated with intravenous immunoglobulin (n = 92, 91%) and glucocorticoids (n = 59, 58.4%). Seven patients (6.9%) died., Conclusion: The clinical spectrum of MIS-C is broad, but clinicians should consider MIS-C in the differential diagnosis when persistent fever, fatigue and gastrointestinal symptoms are prominent. Most patients diagnosed with MIS-C were previously healthy. Immunomodulatory treatment and supportive intensive care are important in the management of cases with MIS-C. Glucocorticoids and intravenous immunoglobulins are the most common immunomodulatory treatment options for MIS-C. Prompt diagnosis and prompt treatment are essential for optimal management., (© 2022 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Aim of the Study: In this study we aimed to investigate whether changing rescuers wearing N95 masks every 1 min instead of the standard CPR change over time of 2 min would make a difference in effective chest compressions., Methods: This study was a randomized controlled mannequin study. Participants were selected from healthcare staff. They were divided into two groups of two people in each group. The scenario was implemented on CPR mannequin representing patient with asystolic arrest, that measured compression depth, compression rate, recoil, and correct hand position. Two different scenarios were prepared. In Scenario 1, the rescuers were asked to change chest compression after 1 min. In Scenario 2, standard CPR was applied. The participants' vital parameters, mean compression rate, correct compression rate/ratio, total number of compressions, compression depth, correct recoil/ratio, correct hand position/ratio, mean no-flow time, and total CPR time were recorded., Results: The study hence included 14 teams each for scenarios, with a total of 56 participants. In each scenario, 14 participants were physicians and 14 participants were women. Although there was no difference in the first minute of the cycles starting from the fourth cycle, a statistically significant difference was observed in the second minute in all cycles except the fifth cycle., Conclusion: Changing the rescuer every 1 min instead of every 2 min while performing CPR with full PPE may prevent the decrease in compression quality that may occur as the resuscitation time gets longer., (Copyright © 2021. Published by Elsevier Inc.)

Background: Palmoplantar pustulosis (PPP) is a rare, chronic, inflammatory skin disease characterized by sterile pustules on palmar or plantar areas. Data on PPP are scarce., Aim: To investigate the clinical characteristics and risk factors for disease severity in a large cohort of Turkish patients with PPP., Methods: We conducted a cross-sectional, multicentre study of patients with PPP recruited from 21 tertiary centres across Turkey., Results: In total, 263 patients (165 women, 98 men) were evaluated. Most patients (75.6%) were former or current smokers. The mean Palmoplantar Pustulosis Area and Severity Index (PPPASI) was 8.70 ± 8.06 and the mean Dermatology Life Quality Index (DLQI) score was 6.87 ± 6.08, and these scores were significantly correlated (r = 0.52, P < 0.001). Regression analysis showed that current smoking was significantly associated with increased PPPASI (P = 0.03). Coexisting psoriasis vulgaris (PsV) was reported by 70 (26.6%) patients. Male sex prevalence, PPP onset incidence, disease duration, DLQI, and prevalence of nail involvement and psoriatic arthritis (PsA) were significantly increased among patients with PPP with PsV. Of the 263 patients, 18 (6.8%) had paradoxical PPP induced by biologic therapy, and these patients had significantly increased mean DLQI and prevalence of PsA (r = 0.03, P = 0.001)., Conclusion: Our data suggest that smoking is a risk factor for both PPP development and disease severity. Patients with PPP with PsV present distinct clinical features and patients with biologic therapy-induced paradoxical PPP have reduced quality of life and are more likely to have PsA., (© 2021 British Association of Dermatologists.)

Objective: COVID-19 is a disease with high mortality, and risk factors for worse clinical outcome have not been well-defined yet. The aim of this study is to delineate the prognostic importance of presence of concomitant cardiac injury on admission in patients with COVID-19., Methods: For this multi-center retrospective study, data of consecutive patients who were treated for COVID-19 between 20 March and 20 April 2020 were collected. Clinical characteristics, laboratory findings and outcomes data were obtained from electronic medical records. In-hospital clinical outcome was compared between patients with and without cardiac injury., Results: A total of 607 hospitalized patients with COVID-19 were included in the study; the median age was 62.5 ± 14.3 years, and 334 (55%) were male. Cardiac injury was detected in 150 (24.7%) of patients included in the study. Mortality rate was higher in patients with cardiac injury (42% vs. 8%; P < 0.01). The frequency of patients who required ICU (72% vs. 19%), who developed acute kidney injury (14% vs. 1%) and acute respiratory distress syndrome (71%vs. 18%) were also higher in patients with cardiac injury. In multivariate analysis, age, coronary artery disease (CAD), elevated CRP levels, and presence of cardiac injury [odds ratio (OR) 10.58, 95% confidence interval (CI) 2.42-46.27; P < 0.001) were found to be independent predictors of mortality. In subgroup analysis, including patients free of history of CAD, presence of cardiac injury on admission also predicted mortality (OR 2.52, 95% CI 1.17-5.45; P = 0.018)., Conclusion: Cardiac injury on admission is associated with worse clinical outcome and higher mortality risk in COVID-19 patients including patients free of previous CAD diagnosis., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies., Methods: We recruited 131 patients (108 males, 23 females) with ASD and macrocephaly between the ages of 3 and 18 from five child and adolescent psychiatry clinics in Turkey from July 2018 to December 2019. We defined macrocephaly as occipito-frontal HC size at or greater than 2 standard deviations (SD) above the mean for age and sex on standard growth charts. PTEN gene sequence analysis was performed using a MiSeq next generation sequencing (NGS) platform, (Illumina)., Conclusion: PTEN gene sequence analyses identified three pathogenic/likely pathogenic mutations [NM&#95;000314.6; p.(Pro204Leu), (p.Arg233*) and novel (p.Tyr176Cys*8)] and two variants of uncertain significance (VUS) [NM&#95;000314.6; p.(Ala79Thr) and c.*10del]. We also report that patient with (p.Tyr176Cys*8) mutation has Grade 1 hepatosteatosis, a phenotype not previously described. This is the first PTEN prevalence study of patients with ASD and macrocephaly in Turkey and South Eastern Europe region with a largest homogenous cohort. The prevalence of PTEN mutations was found 3.8% (VUS included) or 2.29% (VUS omitted). We recommend testing for PTEN mutations in all patients with ASD and macrocephaly., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

During the COVID-19 outbreak, which is effective worldwide, the psychological conditions of healthcare professionals deteriorate. The aim of this study was to examine health professionals' changes in their sexual lives due to the COVID-19 outbreak in Istanbul, Turkey. This online survey was conducted between 2 and 26 May 2020 with 232 healthcare professionals working in a pandemic hospital. After obtaining informed consent, a questionnaire was sent online from the hospital database and health institutions social media accounts (Twitter®, Facebook®, Instagram®, WhatsApp® etc.) and e-mail addresses. The first section of the four-part questionnaire included demographic data, the second and third sections of pre-and post-COVID-19 attitudes, and the last section to assess sexual functions (International Index of Erecile Function for male and Female Sexual Function Index for female), anxiety and depression. Dependent sample t-test, Mc Nemar test, and multivariate analysis were used.The study was completed with 185 participants in total. Healthcare workers' sexual desire (3.49 ± 1.12 vs. 3.22 ± 1.17; p = 0.003), weekly sexual intercourse/masturbation number (2.53 ± 1.12 vs. 1.32 ± 1.27; p < 0.001), foreplay time (16.38 ± 12.35 vs. 12.02 ± 12.14; p < 0.001), sexual intercourse time (24.65 ± 19.58 vs. 19.38 ± 18.85; p < 0.001) decreased compared to the Pre-COVID-19 outbreak. In addition, participants prefer less foreplay (p < 0.001), less oral sex (p < 0.001) and anal sex (p = 0.007) during COVID-19 and more non-face to face sexual intercourse positions (p < 0.001). When factors affecting sexual dysfunction were analyzed as univariate and multivariate, sexual dysfunction was shown to be significantly more common in males (OR = 0.053) and alcohol users (OR = 2.925). During the COVID-19 outbreak, healthcare workers' sexual desires decreased, the number of sexual intercourses decreased, their foreplay times decreased, and their sexual intercourse positions changed to less face to face.