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Dinleme becerisinin gelişimine yönelik durumun saptanmasında sürece yönelik durum değerlendirmelerin önemi her geçen gün artmaktadır ve süreç odaklı eğitsel etkinlikler daha çok kullanılmaya başlamıştır. Süreç odaklı değerlendirmede öğrencilerin değerlendirmeye katılması kendi gelişimlerini izleyip değerlendirmelerine olanak sağlamaktadır. Araştırmada altıncı sınıf öğrencilerinin dinleme becerilerine yönelik durum belirleme sürecinde portfolyo kullanılmasının öğrencilerin dinlemeye yönelik üstbilişsel farkındalığına, motivasyonuna ve başarısına etkisi incelenmiştir. Ön-test son-test kontrol gruplu yarı deneysel desen kullanılmıştır. Çalışmayı 2021-2022 eğitim öğretim yılı bahar döneminde Burdur ilindeki bir ilköğretim okulundaki iki şube altıncı sınıf öğrencisi oluşturmuştur. Araştırmada sekiz haftalık “Portfolyo Temelli Değerlendirme Süreci” uygulanmıştır. Veriler “Üstbilişsel Dinleme Farkındalığı Ölçeği”, “Ortaokul Öğrencileri İçin Dinleme Motivasyonu Ölçeği” ve “Dinlediğini Anlama Başarı Testi” aracılığıyla toplanmıştır. Deneysel sürecin etkililiği iki yönlü karışık ölçümler için ANOVA istatistiği ile test edilmiştir. Araştırma sonuçlarına göre dinleme becerisinin geliştirilmesine yönelik portfolyo kullanımı öğrencinin dinlediğini anlama başarısını zaman içerisinde artıran bir etkenken dinlemeye yönelik motivasyon ve üstbilişsel farkındalık düzeyinde bir değişiklik gözlenmemiştir.

OBJECTIVE: COVID-19 infection is known to injure myocardial tissue and increase arrhythmic events. However, data on the subject is limited in the literature. In our study, our aim was to investigate possible arrhythmic damages in COVID-19 survivors using the frontal plane QRS-T [f(QRS)-T] angle and a few other ECG parameters. PATIENTS AND METHODS: 269 patients who recovered from COVID-19 between April 2020 and January 2021 were included into the study. Pre-admission electrocardiograms and firstmonth outpatient clinic control ECGs of the patients were compared. RESULTS: After COVID-19, left bundle branch block (p<0.001), right bundle branch block (p<0.001), right bundle branch block (p<0.001), and atrial fibrillation (p<0.001) rates had increased. Prolongation was detected in QRS duration (p<0.001), QT interval (p=0.014), adjusted QT interval (p=0.007) and Tpe interval (p=0.012). F(QRS)-T angle (p<0.001) and fragmented QRS rate (p<0.001) were increased. CONCLUSIONS: It was observed in our study that even if patients survived COVID-19, permanent deterioration in ECG parameters may occur. [ABSTRACT FROM AUTHOR]

Bu çalışma, takviye olarak kullanılan probiyotik preparatların etikette belirtildiği gibi içerdiği bakterilerin canlılık ve seviyelerinin incelenmesi amacıyla yapılmıştır. Bu amaçla farklımarkalara ait Lactobacillus ve Bifidobacterium türlerini içeren toplam 15 farklı preparat temin edildi. Örnekler Lactobacillus ve Bifidobacterium türlerini yönünden mikrobiyolojik ekime tabii tutuldu. Yapılan mikrobiyolojik analiz sonucunda örneklerin 13’ünde (%87) canlı bakteri saptanırken 2 örnekte (%13) üreme olmadığı gözlemlendi. Lactobacillus spp. içeren probiyotik preparatlarda bakteri sayısı ortalama 5,9×1010 kob/g; Bifidobacterium spp. içeren probiyotik preparatlarda ise bakteri sayısının ortalama 1,3×109 kob/g olduğu görüldü. Gram boyama, katalaz testivekarbonhidrat fermentasyon testi yapılan suşların Polimeraz Zincir Reaksiyonu (PZR) analiziile doğrulamaları yapıldı. PZR analizi sonucunda, 13 örnekte Lactobacillus ve Bifidobacterium türleri tespit edildi. Sonuç olarak tüketime sunulan hazır probiyotik preparatlarda belirtilen suşların varlığı, canlılığı ve miktarı oldukça önemlidir. Etikette yazılan bilgilerin doğruluk payının %87 olduğu yaptığımız çalışmamızda görüldü.

Pseudomonas aeruginosa (P. aeruginosa), the most pathogenic species among the pseudomonas species, is a bacterium that causes opportunistic infections resulting in significant damage to host tissues. P. aeruginosa, which is resistant to antibiotics, also causes fatal infection in human and animals. Infections caused by P. aeruginosa are difficult to treat due to its rapid proliferation in the environment and its ability to form biofilms that confer resistance to antibiotics. One of the main virulence factors of P. aeruginosa is its direct damage to host tissues, which disrupts the host’s defense mechanisms. P. aeruginosa is a food-borne pathogen often detected in various food groups such as meat, milk, fruit, vegetables, and water. In recent years, there has been a noticeable rise in food-borne contamination with P. aeruginosa. New measures are urgently needed in the treatment of patients with infections due to this agent, since P. aeruginosa can develop resistance to most antibacterials. In this review, general information about P. aeruginosa, which has gained importance for public health, will be given.

This study aimed to evaluate the extract of chitosan obtained from pink shrimp (Parapenaeus longirostris) shell wastes in Balıkesir, the Marmara Sea in Turkey, and to characterize its quality. The physicochemical properties of biopolymer chitosan such as moisture content, solubility, degree of deacetylation (DD), molecular weight (MW), particle size, bulk density, pH, water-binding capacity (WBC), fat-binding capacity (FBC), and color attributes were examined. The obtained chitosan was characterized by Fourier transform infrared spektrofotometer (FT-IR), Dynamic light scattering (DLS), and Thermogravimetric measurements (TG/DTA/DTG). Results indicated that the yield and moisture content of chitosan was 18.82% and 3.62%, respectively. DD was 81.50% while solubility was 86.79%. MW of chitosan was found to be 310 kDa. The presence of the amino group was confirmed from the FT-IR spectra of the synthesized chitosan. Thermogravimetric measurements showed that chitosan had low thermal stability. SEM analysis revealed that the surface morphologies of chitosan consisted of relatively smooth surface and nanofiber structures. Based on the physicochemical characteristics obtained in the present study, pink shrimp could be a potential source to produce high-quality chitosan for industrial applications.

The structural, optical and electrical properties of dilute nitride p-n junction GaPAsN structures grown on n-type GaP (100) and n-type Si (100) misoriented by 4° towards the [110] direction substrates were studied. These properties of the samples, which were grown by using molecular beam epitaxy (MBE) technique, were investigated by using high-resolution X-Ray diffraction (HRXRD), energy dispersive X-Ray (EDX), room temperature photoluminescence (PL) and current-voltage ( I-V) measurements. Both alloy composition values (x, y) and crystal structure parameters were determined from HRXRD measurements while the band gap energies were obtained from PL measurements. Composition values were also determined by using EDX measurements and compared with HRXRD results. The better crystal quality was found for the sample grown on GaP substrate from both the HRXRD and PL results. In addition, the theoretical band gap energies calculated from the band anticrossing (BAC) model and experimental band gap energies determined from the PL measurements were compared and found to be in good agreement with each other. The p-n junction GaPAsN/GaP (Si) diode devices were fabricated to investigate their electrical properties. The I-V characteristics of diodes were analyzed at room temperature and the diode formed on GaP substrate exhibited better results compared to other diode. [ABSTRACT FROM AUTHOR]

Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.

A scale that does not measure the same structure in different cultures should not be used in the cross-cultural comparison-based studies. The validity of the scales should be tested primarily for the countries. In this study, as the evidence of validity of the Programme for International Student Assessment (PISA) 2015 science self-efficacy scale, the measurement invariance has been tested for different cultures. As determined in scientific studies, general self-efficacy is focused on more and this should be examined in academic self-efficacy known to be to student learning and achievement. In the analysis of the data, the measurement model is initially tested. Then, the measurement invariance is tested with a series of analysis. As a result, the scale confirms a unidimensional structure for each country. However, it has provided partial measurement invariance. This indicates that item-based analysis should be conducted.

Yeasts may affect food safety and quality causing spoilage in foods. Also, yeasts can be used as starter culture in the production of traditional and industrial products. Candida species are important for hospital infections which have been able to infect to humans via food in recent years. The aim of this study was to evaluate the incidence of pathogen Candida spp. in butter. In this study, 100 butter samples were analyzed from public bazaars. Candida spp. was detected 10 % of butter samples. C. albicans, C. albicans and C. krusei, C. tropicalis, C. krusei were isolated 4%, 3%, 2%, 1% from Candida spp. positive butter samples, respectively. According to this data, presence of pathogen Candida spp. in butter samples can cause significant problems in public health. In order to ensure food safety, it is necessary to determine the rate of yeast and mold and the detection of pathogen yeasts in microbiological analyses.

The Concept of Health Locus of Control (HLOC) indicates the personal belief of an individual about who or what affects his/her health. This approach emphasizes the importance of individual responsibility for health, especially in the school years which represent a 'critical period' for students to adopt healthy behaviours and lifestyles. The main aim of this survey is to define relationships between Health Locus of Control and the dietary behaviours of Turkish adolescent students by evaluating their risky health behaviours. Results of this survey are used for prediction of how to modify positive health behaviours of students for the protection and promotion of their health. The study group of this descriptive study consists of primary and secondary school students (831) in Ankara. The results not only clearly indicate the relationship between HLOC and dietary behaviours of adolescent students, but also support the results of earlier research. In particular, the association between the relatively higher Chance-HLOC, which represents low responsibility for health, and risky dietary behaviours of students is striking. The Internal-HLOC of students has been found to be more effective than External-HLOC in maintaining healthy dietary behaviours. School psychologists and health educators need to emphasize HLOC in educational activities for reduction of risky behaviours. [ABSTRACT FROM AUTHOR]

Okratoksin A (OTA) Aspergillus ve Penicillium türleri tarafından sentezlenen nefrotoksik etkili bir toksindir. OTA ayrıca insanlarda immunotoksik, teratojenik ve karsinojenik etkileri nedeniyle kansere neden maddeler arasında yer almaktadır. Tahıl, kahve çekirdeği, fındık, kakao, bakliyat, bira, şarap, baharat ve kuru üzümde bulunabilen bir mikotoksindir. OTA kısmen kararlı bir moleküldür ve gıdalara uygulanan işlemlerden sonra bile değişmeden kalabilir. Bu nedenle hayvansal gıdalarda OTA varlığına yönelik çalışmalar yapılması önerilmektedir.

In the developing field of nanotechnology, ZnO (zinc oxide) based semiconductor samples have emerged as the foremost choice due to their immense potential for advancing the development of cutting-edge nanodevices. Due to its excellent chemical stability, low cost, and non-toxicity to biological systems, it is also utilized in various investigations. In this study, the successive ionic layer adsorption and reaction (SILAR) method was used to generate FTO (fluorine-doped tin oxide)/ZnO, and tin (Sn)-copper (Cu)-doped ZnO thin films at varying concentrations on FTO substrates. After being stacked 40 times in varying concentrations on the FTO substrate, FTO/ZnO thin films and Sn-Cu-doped thin films were annealed at 300°C. Using Scanning Electron Microscopy (SEM) Energy Dispersive Spectroscopy-(EDS), the agar diffusion test, and the viability cell counting method, the minimum inhibitory concentration, structural properties, surface morphology, antibacterial properties, bacterial adhesion, and survival organism count of FTO/ZnO thin films and Sn-Cu-doped thin films were investigated. Both doped and FTO/ZnO films with varying Sn-Cu concentrations expanded harmonically on the FTO substrate, according to the SEM-EDS investigation. The doping concentration affected their morphological properties, causing changes depending on the doping level. Antibacterial activity was observed in the powder metals, but no antibacterial activity was found in the thin film form. The highest adhesion rate of bacterial organisms on the produced samples was observed when the FTO/ZnO/Sn-Cu doping rate was 1%. In addition, the lowest adhesion rate was observed when the FTO/ZnO/Sn-Cu additive ratio was 3%. RESEARCH HIGHLIGHTS: ZnO based semiconductors highlight significant potential in advancing nanodevice technology due to their chemical stability, cost-effectiveness, and biocompatibility. Employing the SILAR method, the study innovatively fabricates FTO/ZnO and Sn-Cu-doped ZnO thin films on FTO substrates, exploring a novel approach in semiconductor manufacturing. Post annealing at 300°C, the research examines the structural and surface morphological changes in the films, contributing to the understanding of semiconductor behavior under varying conditions. The study delves into the antibacterial properties of ZnO thin films, offering insights into the potential biomedical applications of these materials. SEM-EDS analysis reveals that doping concentrations crucially influence the morphological properties of ZnO thin films, shedding light on the optimization of semiconductor performance. Findings indicate a specific doping rate (1% Sn-Cu) enhances bacterial adhesion, while a 3% additive ratio minimizes it, suggesting implications for biomedical device engineering and antibacterial surface design., (© 2024 The Author(s). Microscopy Research and Technique published by Wiley Periodicals LLC.)

Introduction: Canavan disease is an autosomal recessive disorder that causes accumulation of N-acetyl ASPArtic acid in the brain due to ASPArtoacylase deficiency with homozygous or compound heterozygous pathogenic variants in the ASPA gene located on the short arm of chromosome 17. Clinical findings are hypotonia, progressive macrocephaly, deafness, nystagmus, blindness, and brain atrophy., Case Presentation: A one-year-old female case was evaluated in our medical genetics clinic for hypotonia, nystagmus, and strabismus. Chromosome analysis and array-comparative genomic hybridization showed no pathology. Clinical exome sequencing by next-generation sequencing was performed and a homozygous likely pathogenic variant NM&#95;000049.4( ASPA ):c.857C > A p.(Ala286Asp) was identified. Sanger sequencing of the parents showed that the index case had a homozygous genotype, the father was heterozygous and the mother had a wild genotype for the identified variant in ASPA . A single nucleotide polymorphism (SNP) array test was planned for the family to explain this homozygosity and a loss of maternal heterozygosity was determined in the 17p13.3-p13.2 region of the ASPA gene., Conclusion: In this report, we aimed to present the first case of Canavan disease with maternal loss of heterozygosity in the ASPA gene., Competing Interests: The authors have no conflicts of interest to declare., (© 2024 S. Karger AG, Basel.)

Objectives: Carotid arterial stenosis could be treated by surgical or percutaneous stenting. In this study, we aimed to investigate the effectiveness of the carotid council on the outcomes of patients with carotid artery disease., Methods: In this retrospective study, we analyzed the patients who had undergone carotid arterial revascularization from April 2014 to July 2022 in our hospital. All patients were evaluated in carotid council, which is constituted by neurologist, cardiologist and cardiovascular surgeon. Patient-specific treatment procedure was decided in the council. Demographics and early-term follow-up results of the patients were evaluated., Results: Totally 95 procedures in 85 patients were analyzed during the study period. 27.4 % of the patients had significant contralateral carotid arterial stenosis. In 88 (92.6%) procedures, patients were treated by carotid endarterectomy, and 5 procedures were performed under regional anesthesia. Shunt usage was 6.0% during the surgery, and arteriotomy was repaired with primary sutures in 87.3%. Stent implantation was performed in 7 patients. There were 5 neurological adverse events after the carotid endarterectomy and 2 neurological events were after carotid arterial stenting. In each treatment group, one patient died after the procedure. In the follow-up period, restenosis was observed just in a patient who was treated with carotid endarterectomy and primary repair., Conclusion: Although carotid artery disease could be treated in accordance with the guidelines, treatment procedures should be patient-specific. Carotid councils might be helpful in giving patient-specific decisions, thereby providing the patient-based treatment procedure and improving the outcomes of the patients with carotid artery disease., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Nutcracker syndrome is a rare condition that occurs as a result of the entrapment of the left renal vein (LRV) between the aorta and the superior mesenteric artery. It is typically associated with symptoms such as left flank pain, hematuria, proteinuria, and pelvic congestion. The current treatment approach may be conservative in the presence of tolerable symptoms, and surgical or hybrid and stenting procedures in the order of priority in the presence of intolerable symptoms. The aim of this study is to review our experiences to evaluate the results of both methods in this series in which we have a greater tendency toward surgery instead of stenting., Methods: The clinical data of consecutive patients with nutcracker syndrome who underwent LRV transposition and LRV stenting between July 2019 and October 2023 were retrospectively reviewed. The patients were divided into 2 groups based on the methods of treatment: surgical and stenting. For procedure selection, LRV transposition was primarily recommended, with stenting offered to those who declined. Primary end points were morbidity and mortality. Secondary end points included late complications, patency, freedom from reintervention, and resolution of symptoms. Standard basic statistics and survival analysis methods were employed., Results: Nineteen patients with nutcracker syndrome (female: 100%) were treated with LRV stentings (n = 5) and LRV transposition (n = 14). The mean age was 24 (20-27, interquartile range [IQR]) years. The mean follow-up was 23 (9-32, IQR) months. There were no major complications and mortality after both procedures. The most frequent sign and symptom associated with LRV entrapment were left flank pain 100% (n = 19), proteinuria 88% (n = 15), and hematuria 47% (n = 9). The mean peak velocity ratio on Doppler ultrasound was 6.13 (6-6.44, IQR). Aortomesenteric angle, beak angle (beak sign), and mean diameter ratio on computed tomography were 26° (22.6-28.5, IQR), 25° (23.9-28, IQR), and 5.3 (5-6, IQR), respectively. Venous pressure measurements were only used to confirm the diagnosis in 5 patients in the stenting group. The measured renocaval gradient was 4 (3.9-4.4, IQR) mm Hg. After both procedures, the classical symptoms, including left flank pain, proteinuria, and hematuria, resolved in 89.5% (n = 17), 57.8% (n = 11), and 82.3% (n = 15) of the cases, respectively. A total of 4 patients required reintervention, 3 patients after LRV transposition (occlusion, n = 2; stenosis, n = 1), and 1 patient after stenting (occlusion, n = 1). The 1-year and 3-year primary patency for the 19 patients was 87% and 80%, respectively. Three-year primary-assisted patency was 100%. Similarly, the 1-year and 3-year freedom from reintervention rate was 83% and 72%, respectively. Additionally, the 1-year and 3-year primary patency for the surgical group was 91% and 81%, respectively, and the 1-year and 3-year primary patency for the stenting group was 75%., Conclusions: Nutcracker syndrome should be kept in mind in cases where flank pain and hematuria cannot be associated with kidney diseases. Radiographic evidence must be accompanied by serious symptoms to initiate the treatment of nutcracker syndrome with LRV transposition and endovascular stenting procedures. Both procedures, along with their respective advantages and disadvantages, can be preferred as primary treatments for nutcracker syndrome. Our study demonstrates that both procedures can be safely and effectively performed, yielding good outcomes., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Objectives: The aim of this study was to determine the effects of recombinant human erythropoietin and 2-merkaptoethane sulfonate, administered in combination, on the biochemical and histopathological changes of ischemia-reperfusion injury., Materials and Methods: Fifty female Wistar Albino rats were used in this study. The animals were randomly divided into 5 groups: a sham group that underwent standard laparotomy only, an ischemia-reperfusion group that was subjected to 30 minutes of hepatic ischemia and 2 hours of reperfusion, a group that intraperitoneally received 1000 IU/kg recombinant human erythropoietin 5 minutes before ischemiareperfusion, a group that intraperitoneally received 150 mg/kg 2-merkaptoethane sulfonate 15 minutes before ischemia-reperfusion, and a combined group that received both drugs intraperitoneally before ischemia-reperfusion. After the reperfusion period, serum aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and malondialdehyde levels were measured. We also evaluated histological changes in rat liver tissues samples., Results: Serum aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and malondialdehyde levels were high in the control groups, but aspartate and alanine aminotransferase levels were within normal limits, especially in rats that only received recombinant human erythropoietin. In rats that received combined treatment, parenchymal alterations in liver tissue were less severe than in the other groups and necrosis did not occur., Conclusions: Recombinant human erythropoietin was clearly more effective than 2-merkaptoethane sulfonate for preventing oxidative injury. When the agents were combined, obvious biochemically and histologically protective effects occurred, providing significant tissue protection in ischemia-reperfusion injury.

Introduction: The benefit of implantable cardioverter-defibrillator (ICD) in patients with non-ischemic dilated cardiomyopathy (DCM) is still an issue under discussion. Studies examining the relationship between ventricular scar tissue and ICD shock with cardiac magnetic resonance (CMR) are promising. CMR studies have shown that ventricular scar tissue size and Selvester score show a correlation. In the light of this information, this study aimed to investigate the potential relationship between Selvester score and ICD therapies., Methods: The study included 48 patients who had undergone ICD implantation with a diagnosis of DCM and who had undergone routine 6-month ICD control in outpatient clinic controls between December 2018 and October 2019. Selvester score and other data were compared between patients who received ICD therapy (n=10) and those who did not (n=38)., Results: Selvester score (P<0.001) was higher in ICD therapy group. Positive correlation was found between ICD shock therapy and Selvester score (P=0.002, r=0.843). Selvester score was detected as an independent predictor for ICD therapy after multiple linear regression analysis (P=0.004). Receiver operating characteristic curve analysis showed that Selvester score (P<0.001) was a significant predictor of ICD therapy. Selvester score cutoff points of 5 for were calculated to estimate ICD therapy, with a sensitivity of 100% and specifity of 81%., Conclusion: In our study, it was found that a high Selvester score may be a predictor for ICD therapies in patients with DCM. As an inexpensive and non-invasive method, Selvester score can help in the decision-making in these patients.

Objective: Treatment of pulmonary embolism varies according to the different clinical presentations. Pulmonary embolism response teams (PERT) might improve outcomes of pulmonary embolism with faster evaluation and increased usage of advanced treatment methods. In this study, the effects of PERT for the treatment of pulmonary embolism were investigated., Methods: In this retrospectively analyzed study, patients diagnosed with PE in our hospital between March 1st, 2019 and February 28 th , 2022 were included. Patients' medical records were evaluated according to the treatment procedures and early outcomes., Results: Ninety-eight patients with pulmonary embolism were evaluated by the PERT during the study period. The mean age was 62.8+16.4 years and 59% were male. All patients with intermediate-low risk were treated medically. About 59.2% of the patients were hospitalized. The rate of catheter-directed thrombolysis was 37.8% (n=37). Systemic thrombolytic therapy was performed on two patients. One patient with a metastatic brain tumor was treated with low-molecular-weight heparin. Catheter-directed procedures were performed in 37 patients. The time from diagnosis to reperfusion was 243 minutes. There was one pericardial effusion and one mortality. In the 30-day follow- up there was no re-hospitalization and mortality., Conclusion: PERT might help early triage and treatment of patients with pulmonary embolism. Experienced specialists in this team might contribute to clinical recovery by performing advanced treatment methods and decreasing the risk of chronic thromboembolic pulmonary hypertension in the long term., Competing Interests: Conflict of interest and Source of funding: None., (Copyright: © Pakistan Journal of Medical Sciences.)

This study investigated whether the systemic immune-inflammation index (SII) is an independent predictor of contrast-induced nephropathy (CIN) in patients undergoing transcatheter aortic valve replacement (TAVR) for severe aortic stenosis. TAVR patients (n = 130) were included in the study. The patients were divided into 2 groups: those who developed CIN [CIN (+)] and those who did not [CIN (-)]. The SII was calculated as the ratio of the product of the total neutrophil count and the total platelet count to the lymphocyte count. CIN developed in 20 (15.3%) patients after TAVR. White blood cell count (7.66 ± 1.75 vs 6.78 ± 1.71 10 3 /mm 3 P = .038), neutrophil count (5.1 (3.9-6.7) vs 4.2 (3.5-5.1) 10 3 /mm 3 P = .024), neutrophillymphocyte ratio (4.20 (2.39-7.00) vs 2.75 (2.06-3.88), P = .010) and SII index (1069 (616-1514) vs 598 (426-955), P = .003) were at higher levels in patients with CIN. In addition, the SII index was an independent predictor for the development of CIN. The SII index, which can be easily calculated from a complete blood count, is an independent predictor of CIN in patients undergoing TAVR for severe aortic stenosis.

The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Objective  A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined. Our aim in the study was to show phenotypic variability associated with rearrangements of the 22q chromosomal region. Methods  We focused our study on clinical aspects of these disorders, including genetic testing, genotype-phenotype correlation, and potential treatments. A total of 998 patients were referred for genetic analysis (Karyotyping, MLPA, array-CGH) during January 2015 to February 2020 because of intellectual deficiency, behavior issues, and/or multiple congenital abnormalities in several genetics departments. Informed consent was obtained from all the patients and/or their parents. Results  22q11.21 or 22q13.33 microdeletions and 22q11.22-q11.23 microduplication were identified in 31 patients out of referrals. The 22q aberrations were detected in 31/998 patients, giving a prevalence of 3.1%. In this study, 18 patients with 22q11.2 (LCR22A-H) deletion, three patients with 22q13.31 deletion, 9 patients with 22q11.2 duplication and one patient with 22q13.31 duplication were identified. We report on the clinical and molecular characterization of 31 individuals with distal deletions and duplications of chromosome 22q. Conclusions  The current study demonstrated in the largest postnatal case series reporting the whole spectrum of atypical phenotypic and genotypic variations at 22q. We believe that when all the phenotypic differences are taken into account, various anomalies including developmental delay and intellectual disability might be considered as an indication to search for aberrations of 22q along with congenital heart diseases., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Background: The importance of monocyte count-to-HDL-cholesterol ratio (MHR) in cardio- vascular diseases has been shown in various studies. Ascending aortic dilatation (AAD) is a common complication in the patients with bicuspid aortic valve. In this study, we aimed to investigate the relationship between MHR and the presence of aortic dilatation in the patients with bicuspid aortic valve., Methods: The study population included totally 347 patients with bicuspid aortic valve.169 patients with aortic dilatation (ascending aorta diameter ≥ 4.0 cm) and 178 patients with no aortic dilatation. Echocardiographic and laboratory measurement was done and compared between groups., Results: The mean age of the participants was 44.7 ± 15.4 years and average ascending aorta diameter was 3.2 ± 0.3 cm in dilatation negative group and 4.4 ± 0.4 cm in positive group. MHR was significantly increased in in patients with aortic dilatation. MHR and uric acid level was independently associated with the presence of aortic dilatation in the patients with bicuspid aortic valve., Conclusion: We found a significant relationship between MHR and aortic dilatation in the patients with bicuspid aortic valve., (© 2021 Acar B et al.)

Purpose: Pathogenic/likely pathogenic (P/LP) germline variations in BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. This study presents the BRCA1/BRCA2 sequencing and deletion duplication analyses results of of 493 participants (485 women, 8 men) selected based on the National Comprehensive Cancer Network (NCCN) guidelines., Methods: Next generation sequencing (NGS) and multiplex ligation-dependent probe amplification methods (MLPA) were used to define germline BRCA1/BRCA2 positivity., Results: Overall, the P/LP frequency of the participants was 17.8%. Five of the likely pathogenic variants were novel. The 5266dupC pathogenic variation, which is a founder mutation in the Ashkenazi Jewish population, was the most common variation among the patients, with a frequency of 5.47%. The pathogenic/likely pathogenic variation frequency was significantly higher (p=0.01) among clinically diagnosed familial cancer patisents than those participants without personal history of cancer but enrolled for BRCA1 testing due to familial risk. BRCA1/BRCA mutation positivity was significantly higher (p=0.000) among those who had at least one first- or second-degree relative with breast/ovarian cancer from patients who had no family history. BRCA1/BRCA2 mutation positivity was 69.23% between the patients who had personal history of both breast and ovarian cancer., Conclusion: Based on our findings, we suggest that sequencing all of the coding regions of the BRCA1/BRCA2 genes using NGS is a feasible approach for individuals who are at risk of developing BRCA-related cancer according to NCCN guidelines. The 5266dupC pathogenic variation, as the most common pathogenic variation in the Trakya region of Turkey, should be included if a targeted mutatin screening is planned.