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Abstract Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.

Objectives: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has been recognized as the first method of choice in the diagnosis of mediastinal and hilar lesions. Although the procedure is commonly used, there is no study assessing its contribution to the duration required for diagnosis and treatment. In this study, we aimed to determine the extent of diagnosis and treatment delays when using the EBUS-TBNA procedure and to address the possible factors contributing to these delays., Materials and Methods: The demographic data, pathological diagnosis, need for additional procedures, symptoms, presenting complaints, and the time until the beginning of treatment were recorded retrospectively in all patients who had undergone EBUS-TBNA., Results: A total of 134 patients (mean age 60.7 ± 12 years, M/F: 78/56) were included. Delay of the patients was found in 60.4% ( n  = 81), delayed referral in 35.8% ( n  = 48), diagnosis delays in 84.3% ( n  = 113), treatment delays in 38.8% ( n  = 52), and total delay in 73.1% ( n  = 98) of the patients. A statistically significant association was found between referral delay and total delay with age groups ( p =0.006) and between patient delay and the presence of symptoms ( p =0.027). EBUS-TBNA was found to have the lowest effect among all delay parameters ( β : 0.104, p < 0.001) in the regression analysis. When diagnosis times' subgroups were compared, EBUS-TBNA was found to have the least effect (correlation coefficient: 0.134, p =0.004)., Conclusion: We found that approximately ¾ of the patients had a delay and this is not acceptable in real terms. Considering that the patient burden is increasing day by day, it is necessary to make a radical change in health care or a change in strategy in order to prevent delays. EBUS-TBNA, which is in the diagnosis delay subgroup, is less invasive and accelerates the process., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2022 Emine Gülçek et al.)

The study aims to evaluate the vismodegib treatment in local advanced (laBCC) and metastatic (mBCC) basal cell carcinoma. The data of 29 patients were retrospectively reviewed. The clinical and histopathological features of the patients and adverse events of vismodegib were recorded. Overall survival (OS) and progression-free survival (PFS) were evaluated with Kaplan-Meier analysis. The median follow-up period was 17 months (range: 1.6-57.3), and the median age at diagnosis 73 years (range: 39-88). The most common disease location was head and neck (86.2%), and the most common non-skin sites of disease were lymph nodes (13.8%), bone (13.8%), lung (6.9%), and brain (6.9%). Three (10.3%) patients had Gorlin's syndrome. The number of metastatic patients was 5 (17.2%). With vismodegib treatment, the complete response rate was 27.6%, partial response 55.2%, and stable response 10.3%. Treatment responses were most frequently seen within 2 months from the beginning of vismodegib. The median OS was 43.3 ± 9.0 months (25.6-61.1) for all patients. The median PFS in the laBCC was 15.7 ± 1.8 months (12.2-19.3), and 12.1 ± 4.6 months (2.9-21.2) in the mBCC. In the univariable analysis for the OS, only the treatment after the vismodegib was statistically significant, showing chemotherapy was better comparing to no treatment or surgery. The most common adverse events were fatigue-58.6%, muscle spasms-48.3%, alopecia-13.8%, and weight loss-13.8%. This real-life data study shows that vismodegib treatment in locally advanced and metastatic BCC was well tolerated and effective., (© 2021 Wiley Periodicals LLC.)

The COVID-19 pandemic has brought countries' health services into sharp focus. It was drawn to our group's attention that healthcare workers (HCWs) had a lower mortality rate against higher COVID-19 incidence compared to the general population in Turkey. Since risk of exposure to tuberculosis bacillus among healthcare workers are higher than the population, we aimed to investigate if there is a relationship between BCG and Mycobacterium tuberculosis exposure history with COVID-19 severity in infected HCWs. This study was conducted with 465 infected HCWs from thirty-three hospitals to assess the relationship between COVID-19 severity (according to their hospitalization status and the presence of radiological pneumonia) and BCG and Mycobacterium tuberculosis exposure history. HCWs who required hospital admission had significantly higher rates of chronic diseases, radiological pneumonia, and longer working hours in the clinics. Higher rates of history of contact and care to tuberculosis patients, history of tuberculosis, and BCG vaccine were observed in hospitalized HCWs. HCWs who had radiological pneumonia had a significantly increased ratio of history of care to tuberculosis patients and a higher family history of tuberculosis. The findings from our study suggest that the lower mortality rate despite the more severe disease course seen in infected HCWs might be due to frequent exposure to tuberculosis bacillus and the mortality-reducing effects of the BCG vaccine.

Background: We aimed to compare the physical activity, kinesiophobia, and fatigue levels of obstructive sleep apnea syndrome (OSAS) patients and healthy individuals in terms their somatotypes., Methods: A total of 165 individuals were enrolled referred to the Department of Chest Diseases Sleep Disorders Center Outpatient Clinic of Inonu University, Malatya, Turkey in 2018. The somatotype analysis was conducted using the Heath-Carter method, the fatigue level was assessed using the Functional Assessment of Chronic Illness Therapy (FACIT) fatigue scale, the kinesiophobia level was assessed using the Tampa Scale for Kinesiophobia (TSK), and the physical activity level was assessed using the International Physical Activity Questionnaire (IPAQ)., Results: The results of the somatotype analysis revealed 3 different somatotypes in the healthy individuals and the OSAS patients' mesomorph endomorph, endomorphic mesomorph, and mesomorphic endomorph. When comparing the somatotypes of the healthy individuals and the OSAS patients, statistically significant differences were found in the FACIT scores of the mesomorph endomorphs, the IPAQ and FACIT scores of the endomorphic mesomorphs, and the TSK and FACIT scores of the mesomorphic endomorphs ( P <0.05)., Conclusion: In all three somatotypes of the OSAS patients, the fatigue index scores were higher when compared to those of the healthy individuals. Moreover, when compared with the healthy individuals, the physical activity levels of the endomorphic mesomorphs with OSAS were low, while the kinesiophobia scores of the mesomorphic endomorphs with OSAS were high. Based on the results of this study, in OSAS patients, the endomorphic mesomorph somatotype could be a risk factor for reduced physical activity, while the mesomorphic endomorph somatotype could be a risk factor for increased kinesiophobia., Competing Interests: Conflict of interest The authors declare that there is no conflict of interest., (Copyright © 2021 Toy et al. Published by Tehran University of Medical Sciences.)

Introduction: In this study, we aimed to determine the values of anthropometric measurements and rates used in the evaluation of obstructive sleep apnea syndrome (OSAS) in our country., Materials and Methods: Twenty accredited sleep centers in thirteen provinces participated in this multicenter prospective study. OSAS symptoms and polysomnographic examination and apnea-hypopnea index (AHI) ≥ 5 cases OSAS study group; patients with AHI < 5 and STOP-Bang < 2 were included as control group. Demographic characteristics (age, sex, body mass index-BMI) and anthropometric measurements (neck, waist and hip circumference, waist/hip ratio) of the subjects were recorded., Result: The study included 2684 patients (81.3% OSAS) with a mean age of 50.50 ± 0.21 years from 20 centers. The cases were taken from six geographical regions of the country (Mediterranean, Eastern Anatolia, Aegean, Central Anatolia, Black Sea and Marmara Region). Demographic characteristics and anthropometric measurements; age, neck, waist, hip circumference and waist/ hip ratios and BMI characteristics when compared with the control group; when compared according to regions, age, neck, waist, hip circumference and waist/hip ratios were found to be statistically different (p< 0.001, p< 0.001, p< 0.05, respectively). When compared by sex, age, neck and hip circumference, waist/hip ratio, height, weight and BMI characteristics were statistically different (p< 0.001, respectively). Neck circumference and waist/hip ratio were respectively 42.58 ± 0.10 cm, 0.99 ± 0.002, 39.24 ± 0.16 cm, 0.93 ± 0.004 were found in women., Conclusions: The neck circumference was lower than the standard value in men, but higher in women. The waist/hip ratio was above the ideal measurements in both men and women. In this context, the determination of the country values will allow the identification of patients with the possibility of OSAS and referral to sleep centers for polysomnography.

Deep vein thrombosis (DVT) and pulmonary embolism (PE) are currently defined as venous thromboembolism (VTE) since they share pathophysiological features and the treatment is similar in many respects. It has been determined that more than 90% of PE cases originate from DVT in the legs. PE, which is difficult to diagnose, has a mortality rate of 12% when untreated. The worldwide increase in obesity, cancer diseases, and average survival time also contribute to the increase in the incidence of VTE. Traditional treatment of VTE includes heparin, low-molecular-weight heparin, and warfarin. Despite availability for oral use, warfarin has a narrow therapeutic range and a wide range of food interactions. After many years of research, new oral anticoagulant agents (NOACs) are expected to overcome these handicaps in treatment. In this review, the use of NOACs in the treatment of VTE is investigated in the light of current guidelines.

Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved. Non-invasive prenatal diagnosis found ground in genetics and the results are widely studied in scientific arena. When Lo and colleges proved fetal genetic material can be extracted from maternal plasma and fetal DNA can be isolated from maternal serum, the gate to many exciting discoveries was open. Microarray technology and advances in sequencing helped fetal diagnosis as well as other areas of medicine. Today it is a very crucial prerequisite for physicians practicing prenatal diagnosis to have a profound knowledge in genetics. Prevailing practical use and application of fetal genomic tests in maternal and fetal medicine mandates obstetricians to update their knowledge in genetics. The purpose of this review is to assist physicians to understand and update their knowledge in fetal genetic testing from maternal blood, individualized prenatal counseling and advancements on the subject by sharing our experiences as İstanbul University Fetal Nucleic Acid Research Group., Competing Interests: Conflict of Interest: The authors reported no conflict of interest related to this article.

Objective: Hemolytic disease of the newborn (HDN) is a clinic phenomenon which occurs during pregnancy due to the Rhesus (Rh) D alloimmunization between a Rh (-) pregnant woman, who has become sensitive to RhD antigens, and her Rh (+) fetus. As a result of the attack of maternal RhD antibodies on fetal RhD antigens, fetal anemia, HDN and fetal death may occur. % 40 of Rh (-) pregnant women carry Rh (-) fetus. However, all Rh (-) pregnant women are offered anti-D Immunoglobulin (Anti-D Ig) at 28 weeks' gestation in case of fetomaternal haemorrhage, so the pregnant women carrying Rh (-) fetus are exposed to blood products unnecessarily. Although the RhD of fetus can be detected, methods used for prenatal diagnosis recently are invasive tests and they can result in abortion in a certain percentage. The discovery of circulating cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for non invasive prenatal diagnosis. The aim of this study was to detect prenatal RhD by analysing the presence of the RhD gene of fetal DNA in maternal blood., Material and Methods: Total free DNA was isolated from the blood of 19 Rh (-) pregnant women, who had RhD alloimmunization with their husbands, in the 11-14 th week of their pregnancy. The existence of a gene in isolated DNA was investigated with TaqMan prob and "Real-time PCR" method by using primers belonging to exon 7 of RhD gene., Results: Using a quantitative real-time PCR assay, the presence of RhD gene sequences was evaluated in the serum of patients at the onset of pregnancy. We have analyzed 19 Rh (-) pregnant women. Twelve of them were Rh (-) and the rest of them were 7 Rh (+). After birth the baby's blood groups were concordant with our results., Conclusion: The results obtained by RhD primer were analysed. The possibility of detection of fetal RhD gene in maternal blood contributed to noninvasive prenatal diagnosis.

Tuberculosis, one of the oldest diseases of human beings, has still high mortality rates. In this prospective study, 113 HIV seronegative patients with extrapulmonary tuberculosis (EPT) who were admitted to our department between January 2001 and July 2006 have been evaluated and cases with severe or mild forms of EPT have been compared with respect to epidemiological and clinical features, laboratory results and treatment outcomes. The age range of the patients were 16-78 years old (mean age: 46.3 +/- 16.9 years), and 64 of them (56.6%) were female. Severe and mild forms of EPT were diagnosed in 49 (43.3%) and 64 (56.6%) of the patients, respectively. The most frequently involved organ was detected as lymph nodes (43.3%), followed by pleura and vertebrate involvements with the rates of 12.4%. There was an underlying disease in 35 (30.9%) of the patients (diabetes mellitus in 15%; chronic renal dysfunction in 11.5%; malignancy in 4.4%), history of passed tuberculosis infection in 13 (11.5%) and history of contact with a tuberculosis patient in 25 (22.1%). In direct microscopic examination, samples from 19 (16.8) patients were found positive for acid-fast bacilli, and samples cultivated in Lowenstein-Jensen media yielded mycobacterial growth in 25 (22.1%) patients. The diagnosis have been made histopathologically in 89 (78.7%) of the cases. In comparison of the patients with severe and mild forms of EPT, the severe form were detected more frequently in males (p= 0.01), the positivity rates of culture and acid-fast staining were higher in patients with severe form (p= 0.0004 and p= 0.001, respectively). The mortality rate was also found higher in patients with severe form (p= 0.046). The cases who were diagnosed as EPT have been treated by three or four antituberculosis drugs. Izoniazid (300 mg/day, 6-12 months), rifampicin (600 mg/day, 6-12 months), ethambutol (1500 mg/day, 2-4 months), pyrazinamide (2000 mg/day, 2-4 months) and streptomycin (1 g/day, 45-60 days) were used for the therapy. Side effects due to the therapy were observed in 13.3% of the cases (most frequently; gastrointestinal intolerance in 53.3% and hepatitis in 40%), however, there was no necessity to quit the therapy. Surgical treatment has been applied in 14 (12.4%) of the patients. As a result, the investigation of epidemiological and clinical characteristics of extrapulmonary tuberculosis on the large series of cases may be essential for early diagnosis and treatment in endemic countries such as Turkey.

Objective: The objective was to determine whether therapeutic amniocentesis may improve outcomes in patients with twin-twin transfusion syndrome., Study Design: Eleven patients were managed aggressively with repetitive serial amniocenteses, and six patients were managed conservatively., Results: The time interval between diagnosis and delivery was 17.4 days more in the amniodrainage group, but the difference between the groups was not significant (68.3+/-41.9 days in the therapeutic amniocentesis group and 50.83+/-29.7 days in the expectant management group [p=0.384]). The overall survival rate of the two groups was 38.2%, and was not significantly different between groups (40.9% in the amniocentesis group and 33.3% in the expectant management group; p=1.00). Two of nine (22.2%) infants in the amnioreduction group, and one of four (25.0%) infants in the expectantly managed group had neurological symptoms., Conclusion: Our results did not show a significant benefit of aggressive therapeutic amniocentesis. A slight improvement in perinatal outcome was observed.

Objective: The purpose of this study was to determine the associated abnormalities and clinical outcomes of fetuses with Dandy-Walker malformations., Methods: Sonograms and medical reports of 78 cases were reviewed and information regarding each outcome was collected from autopsy records, hospital charts and specialists caring for the surviving infants., Results: We identified 64 fetuses with classic Dandy-Walker malformation (DW) and 14 fetuses with Dandy-Walker variant (DWV). A high proportion (44.8%) of the parents were consanguineous. The spectrum and proportion of central nervous system (67.1 vs. 71.4%; p = 1.0) and other malformations (43.7 vs. 64.2%; p = 0.57) associated with DW and DWV were similar. Chromosome abnormalities were found in 9 of the 51 (17.6%) fetuses that underwent karyotype analysis. Only 4 of 64 (6.2%) DW and 3 of 14 (21.4%) DWV infants survived (p 0.14), and all surviving infants with DW or DWV had neurological disorders., Conclusions: DW and DWV cases show so many similarities that a clear-cut distinction is difficult. There was no significant difference in the spectrum of associated anomalies and postnatal prognosis between DW and DWV cases., (Copyright 2004 S. Karger AG, Basel)