Turkish Journal of Medical Sciences最新文献

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CD20 molecule deficiency and carrier frequency: a village-based screening study. CD20分子缺乏和携带者频率:基于村庄的筛查研究。
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-12-21 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6157
Ebru Sümen, Mehmet Ali Karaselek, Serkan Küççüktürk, Tuğçe Duran, Büşra Yüksel, Mustafa Gençeli, Ayşe Sümeyra Engin, Muhammed Furkan Erden, Tuğba Esra Pekcandanoğlu, Bilal Bostan, Mahmut Esad Yurtseven, Nazire Nur Onat, Şükrü Nail Güner, Sevgi Keleş, İsmail Reisli
{"title":"CD20 molecule deficiency and carrier frequency: a village-based screening study.","authors":"Ebru Sümen, Mehmet Ali Karaselek, Serkan Küççüktürk, Tuğçe Duran, Büşra Yüksel, Mustafa Gençeli, Ayşe Sümeyra Engin, Muhammed Furkan Erden, Tuğba Esra Pekcandanoğlu, Bilal Bostan, Mahmut Esad Yurtseven, Nazire Nur Onat, Şükrü Nail Güner, Sevgi Keleş, İsmail Reisli","doi":"10.55730/1300-0144.6157","DOIUrl":"10.55730/1300-0144.6157","url":null,"abstract":"<p><strong>Background/aim: </strong>CD20 deficiency is an autosomal recessive inborn error of immunity (IEI), and the only known affected individual worldwide has been under follow-up in our clinic. Because the consanguineous parents of the index patient are putative carriers, we hypothesized that additional individuals with reduced CD20 expression might exist within their village population. This study aimed to evaluate clinical features associated with IEI and to identify individuals displaying CD20 mean fluorescence intensity (MFI) patterns consistent with putative carrier status, while also providing appropriate genetic counseling.</p><p><strong>Materials and methods: </strong>This cross-sectional screening study was conducted in December 2024 in Çukurbağ village. Participants completed a questionnaire that included IEI warning signs and information about their familial relationship to the index case. CD19 and CD20 expression in peripheral blood samples was analyzed by flow cytometry. Individuals were classified as putative carriers if their CD20 MFI values were <50% of those of healthy controls.</p><p><strong>Results: </strong>A total of 145 individuals (44 children, 101 adults) from 52 families were screened. Among individuals related to the index case, the consanguinity rate was 39.3%. Jeffrey Modell Foundation scores were significantly higher in children than in adults (p < 0.05). No individuals with CD20 deficiency were identified. Approximately 10% of participants (n = 14) exhibited normal CD19 and CD20 percentages but showed reduced CD20 MFI values consistent with putative carrier status. All putative carriers were relatives of the index case. The proposed CD20-A700 (≤2537) and CD20-FITC (≤7787) MFI thresholds demonstrated high diagnostic performance (sensitivity and specificity values are presented for both parameters).</p><p><strong>Conclusion: </strong>CD20 MFI, rather than CD20 percentage, appears to be a more informative indicator for identifying individuals with flow-cytometric patterns suggestive of putative carrier status. Flow cytometry may serve as a rapid and practical preliminary screening tool in community-based settings; however, confirmation of carrier status requires molecular genetic testing, and genetic counseling should be based on verified genotypic results.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 1","pages":"237-245"},"PeriodicalIF":1.4,"publicationDate":"2026-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12974270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147435841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
C-reactive protein-albumin-lymphocyte (CALLY) index as a novel inflammatory marker for sarcopenia: evidence from a cross-sectional study. c反应蛋白-白蛋白淋巴细胞(CALLY)指数作为肌肉减少症的一种新的炎症标志物:来自横断面研究的证据
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-08-06 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6363
Yasemin Polat Özer, Merve Güner, Serdar Ceylan, Engin Çeşmeci, Cafer Balci, Burcu Balam Doğu, Meltem Gülhan Halil, Mustafa Cankurtaran, Mert Eşme
{"title":"C-reactive protein-albumin-lymphocyte (CALLY) index as a novel inflammatory marker for sarcopenia: evidence from a cross-sectional study.","authors":"Yasemin Polat Özer, Merve Güner, Serdar Ceylan, Engin Çeşmeci, Cafer Balci, Burcu Balam Doğu, Meltem Gülhan Halil, Mustafa Cankurtaran, Mert Eşme","doi":"10.55730/1300-0144.6363","DOIUrl":"10.55730/1300-0144.6363","url":null,"abstract":"<p><strong>Background/aim: </strong>Sarcopenia is a geriatric syndrome characterized by progressive impairments in skeletal muscle mass and performance, with chronic low-grade systemic inflammation playing a pivotal role in its development. The C-reactive protein-albumin-lymphocyte (CALLY) index reflects inflammatory burden alongside immune and nutritional status; however, its association with sarcopenia in older populations has yet to be sufficiently elucidated. The present study investigates the relationship between CALLY index values and probable sarcopenia (PS) in a large cohort of geriatric outpatients.</p><p><strong>Materials and methods: </strong>Included in this retrospective cross-sectional study were 2042 geriatric outpatients aged ≥65 years who were assessed between May 2022 and March 2025. PS was defined based on EWGSOP-2 criteria (handgrip strength or chair stand test), while sarcopenia risk was assessed using the SARC-F questionnaire (assessing strength, assistance with walking, rise from a chair, climb stairs, and falls). The CALLY index was calculated based on comprehensive geriatric assessment results and laboratory parameters. A complete case analysis was performed and patients with incomplete data were excluded. Group comparisons, logistic regression, ROC curve analyses, and correlation analyses were performed.</p><p><strong>Results: </strong>Of the participants, 1092 (53.5%) were classified as PS and 950 (46.5%) as normal. Lower CALLY index values were observed in those with PS and high SARC-F scores (p <0.001), and were independently associated with both PS and sarcopenia risk in logistic regression analysis. In addition, the CALLY index was negatively correlated with SARC-F, timed up and go, chair stand test, and 4-meter walking time, and positively correlated with handgrip strength (all p <0.001).</p><p><strong>Conclusion: </strong>Lower CALLY values were independently associated with both PS and sarcopenia risk among older adults, supporting its use as a practical and accessible biomarker alongside routine geriatric assessment. Due to the cross-sectional nature of the study, further prospective studies involving a larger cohort are necessary to verify these associations and to assess prognostic utility.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1185-1197"},"PeriodicalIF":1.4,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Erratum to "HLA allele and haplotype diversity in Central Anatolia: a comparative analysis of donors and transplant candidates across six HLA loci (HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1, and HLA-DPB1)" [Turkish Journal of Medical Sciences 56 (3) 2026 817-827]. “HLA等位基因和单倍型多样性在安纳托利亚中部:供体和移植候选人在6个HLA位点(HLA- a, HLA- b, HLA- c, HLA- drb1, HLA- dqb1和HLA- dpb1)的比较分析”[土耳其医学科学杂志56(3)2026 817-827]。
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-08-01 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6380
Emel Yantir, Eren Gündüz
{"title":"Erratum to \"HLA allele and haplotype diversity in Central Anatolia: a comparative analysis of donors and transplant candidates across six HLA loci (HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1, and HLA-DPB1)\" [Turkish Journal of Medical Sciences 56 (3) 2026 817-827].","authors":"Emel Yantir, Eren Gündüz","doi":"10.55730/1300-0144.6380","DOIUrl":"https://doi.org/10.55730/1300-0144.6380","url":null,"abstract":"<p><p>[This corrects the article on p. 817 in vol. 56, PMID: 42499444.].</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1364"},"PeriodicalIF":1.4,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Histomorphological changes in human septal cartilage stored in different preservation solutions. 不同保存液对人鼻中隔软骨组织形态学的影响。
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-07-21 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6366
Özlem Akkoca, Akif Sinan Bilgen, Harun Çoban, Fatma Aslan Yay, Zeynep Kaptan, Funda Balkiliç Akkaya, Rahmi Kiliç, Sami Engin Muz
{"title":"Histomorphological changes in human septal cartilage stored in different preservation solutions.","authors":"Özlem Akkoca, Akif Sinan Bilgen, Harun Çoban, Fatma Aslan Yay, Zeynep Kaptan, Funda Balkiliç Akkaya, Rahmi Kiliç, Sami Engin Muz","doi":"10.55730/1300-0144.6366","DOIUrl":"10.55730/1300-0144.6366","url":null,"abstract":"<p><strong>Background/aim: </strong>To assess the histopathological effects of three preservation solutions (70% ethanol, povidone-iodine, and ciprofloxacin) on human septal cartilage obtained during septoplasty and to compare their preservation characteristics for potential future graft applications. Optimal preservation of septal cartilage is clinically important because well-preserved grafts may reduce the need for secondary cartilage harvesting and the associated donor-site morbidity while facilitating reconstructive procedures during revision surgery.</p><p><strong>Materials and methods: </strong>A total of 90 septal cartilage specimens obtained from 30 patients undergoing septoplasty were allocated to three preservation groups and stored in the designated preservation solutions at +4 °C. Samples were examined histologically on days 0, 15, and 30. The evaluated parameters included chondrocyte count/cellularity, the percentage of empty lacunae, chondrocyte morphology, erosion score, inflammation, and necrosis. Evaluations were blinded.</p><p><strong>Results: </strong>Progressive time-dependent histomorphological deterioration was observed in all preservation groups. From baseline to day 30, the ciprofloxacin group showed a greater reduction in chondrocyte count and a greater increase in the percentage of empty lacunae than the povidone-iodine group (adjusted p = 0.043 and p = 0.029, respectively). Although ethanol showed relatively favorable morphological findings at day 15, substantial deterioration was observed by day 30. Chondrocyte morphology and erosion scores also deteriorated over time. Inflammation and necrosis remained minimal across all groups.</p><p><strong>Conclusion: </strong>All tested preservation solutions were associated with progressive, time-dependent histomorphological deterioration of septal cartilage. No single preservation solution demonstrated consistently superior preservation across all evaluated histopathological parameters. Further biomechanical and biochemical studies are required to establish optimal cartilage preservation protocols.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1220-1229"},"PeriodicalIF":1.4,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of vNOTES hysterectomy with uterosacral ligament suspension on overactive bladder symptoms in patients with pelvic organ prolapse: a retrospective cohort study. vNOTES子宫切除术联合子宫骶韧带悬吊对盆腔器官脱垂患者膀胱过度活动症状的影响:一项回顾性队列研究
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-07-11 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6361
Gonca Türker Ergün, Mahmut Kuntay Kokanali, Duygu Tuğrul Ersak, Melike Doğanay, Özlem Moraloğlu Tekin
{"title":"Effect of vNOTES hysterectomy with uterosacral ligament suspension on overactive bladder symptoms in patients with pelvic organ prolapse: a retrospective cohort study.","authors":"Gonca Türker Ergün, Mahmut Kuntay Kokanali, Duygu Tuğrul Ersak, Melike Doğanay, Özlem Moraloğlu Tekin","doi":"10.55730/1300-0144.6361","DOIUrl":"10.55730/1300-0144.6361","url":null,"abstract":"<p><strong>Background/aim: </strong>To evaluate the anatomical and functional outcomes following vaginal natural orifice transluminal endoscopic surgery (vNOTES) hysterectomy combined with bilateral uterosacral ligament suspension in patients with apical prolapse and concomitant overactive bladder symptoms.</p><p><strong>Materials and methods: </strong>This retrospective cohort study was conducted at a single tertiary referral center. Women with symptomatic apical prolapse (stage ≥ II) and concomitant overactive bladder symptoms were included. All patients underwent vNOTES hysterectomy with bilateral uterosacral ligament suspension. Anatomical outcomes were assessed using the Pelvic Organ Prolapse Quantification (POP-Q) system, whereas functional outcomes were evaluated using validated questionnaires, including the Pelvic Floor Distress Inventory-20 (PFDI-20), Overactive Bladder Questionnaire-V8 (OAB-V8), and Overactive Bladder Symptom Score (OABSS).</p><p><strong>Results: </strong>A total of 25 patients were included in the study. Significant improvements were observed across all POP-Q system parameters at the 3-month postoperative follow-up. Furthermore, assessments of pelvic organ prolapse and overactive bladder symptoms using the PFDI-20, OAB-V8, and OABSS revealed statistically significant postoperative improvements compared with baseline. Overall, among all POP-Q measurements, only the change in point C was significantly associated with improvements in overactive bladder symptom scores measured by the OAB-V8 and OABSS (r = 0.642, p = 0.001; r = 0.589, p = 0.002, respectively).</p><p><strong>Conclusion: </strong>The vNOTES approach to bilateral uterosacral ligament suspension appears to be an effective minimally invasive technique that not only restores apical anatomical support but also substantially alleviates overactive bladder symptoms. Improvement in apical support may be a key determinant of functional recovery.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1168-1175"},"PeriodicalIF":1.4,"publicationDate":"2026-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of PRECISE-HBR score with clinical outcomes and length of hospital stay after transcatheter aortic valve implantation. 经导管主动脉瓣植入术后precision - hbr评分与临床结果和住院时间的关系
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-07-01 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6360
Erhan Saraçoğlu, Yunus Emre Özbebek, Bekir Demirtaş
{"title":"Association of PRECISE-HBR score with clinical outcomes and length of hospital stay after transcatheter aortic valve implantation.","authors":"Erhan Saraçoğlu, Yunus Emre Özbebek, Bekir Demirtaş","doi":"10.55730/1300-0144.6360","DOIUrl":"10.55730/1300-0144.6360","url":null,"abstract":"<p><strong>Background/aim: </strong>The PRECISE-HBR score was developed to estimate bleeding risk after percutaneous coronary intervention, but its clinical utility in patients undergoing transcatheter aortic valve implantation (TAVI) remains uncertain. We evaluated its association with major bleeding and hospitalization burden after TAVI.</p><p><strong>Materials and methods: </strong>This ambispective, single-center observational study included 184 consecutive patients undergoing TAVI. The patients were categorized by PRECISE-HBR score (≤22, 23-26, and ≥27) for descriptive comparisons. Receiver operating characteristic analyses were used to assess the discriminative performance of PRECISE-HBR and the Society of Thoracic Surgeons score for major bleeding, prolonged hospitalization, and in-hospital mortality. Binary logistic regression was utilized to evaluate associations between each one-point increase in PRECISE-HBR and clinical outcomes, while correlation analyses were used to assess relationships with length of stay.</p><p><strong>Results: </strong>Higher PRECISE-HBR scores were associated with older age, female sex, hypertension, and chronic kidney disease. Major bleeding increased across score categories (7.7%, 19.4%, and 34.6%; p = 0.010) and total hospital stay was longer in the highest category (p = 0.033). PRECISE-HBR score showed weak positive correlations with intensive care unit stay (r = 0.270, p < 0.001), ward stay (r = 0.148, p = 0.044), and total hospitalization duration (r = 0.244, p = 0.001). Discrimination was moderate for major bleeding (AUC 0.748, 95% CI 0.662-0.824) and modest for prolonged hospitalization (AUC 0.615, 95% CI 0.532-0.694). Each one-point increase in PRECISE-HBR score was associated with major bleeding (OR 1.15, 95% CI 1.09-1.22; p < 0.001) and prolonged hospitalization (OR 1.06, 95% CI 1.02-1.11; p = 0.007), but not in-hospital mortality.</p><p><strong>Conclusion: </strong>Higher PRECISE-HBR scores were associated with major bleeding and longer hospitalization after TAVI. The score may aid bleeding-risk assessment and estimation of hospitalization burden, although prospective external validation is required.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1160-1167"},"PeriodicalIF":1.4,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vitamin D deficiency, depression severity, and suicide risk: evidence from patients with major depressive disorder. 维生素D缺乏、抑郁严重程度和自杀风险:来自重度抑郁症患者的证据。
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-07-01 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6371
Elif Küçük, Feride Uysal, Seda Şenkardeş Kandemir, Özgür Özkalayci, Canay Pamukçu, Nihal Taştekin, Merih Altintaş
{"title":"Vitamin D deficiency, depression severity, and suicide risk: evidence from patients with major depressive disorder.","authors":"Elif Küçük, Feride Uysal, Seda Şenkardeş Kandemir, Özgür Özkalayci, Canay Pamukçu, Nihal Taştekin, Merih Altintaş","doi":"10.55730/1300-0144.6371","DOIUrl":"10.55730/1300-0144.6371","url":null,"abstract":"<p><strong>Background/aim: </strong>Major depressive disorder (MDD) is a common psychiatric condition characterized by depressive symptoms and suicide-related clinical features. Vitamin D status has been investigated as a potential clinical correlate of depression and suicidal ideation, but the direction and specificity of these associations remain uncertain. This cross-sectional study aimed to examine the associations among serum 25-hydroxyvitamin D [25(OH)D] levels, depressive symptom severity, suicidal ideation, and suicide-related cognitive-affective dimensions in adults diagnosed with MDD.</p><p><strong>Materials and methods: </strong>This cross-sectional study included 97 adults aged 18-65 years who were diagnosed with MDD according to DSM-5 criteria. Depressive symptom severity and suicide-related outcomes were assessed using the Hamilton Depression Rating Scale (HDRS), Suicidal Ideation Scale (SIS), and Suicide Probability Scale (SPS). Vitamin D status was classified as deficient (<20 ng/mL), insufficient (20-29 ng/mL), or sufficient (≥30 ng/mL). Associations were examined using multivariable generalized linear models adjusted for available sociodemographic and clinical covariates.</p><p><strong>Results: </strong>Vitamin D deficiency was observed in 61.9% of participants and the mean serum 25(OH)D level was 18.4 ± 11.9 ng/mL. Lower serum 25(OH)D levels were significantly associated with higher HDRS, SIS, and SPS total/subscale scores. In adjusted models, higher serum 25(OH)D levels remained inversely associated with HDRS scores, SIS scores, and total SPS scores. Parental status was also associated with lower SIS scores, while a history of suicide attempts was associated with higher SPS-Suicidal Ideation scores.</p><p><strong>Conclusion: </strong>Lower serum 25(OH)D levels were associated with greater depressive symptom severity and higher suicide-related scale scores in adults with MDD, particularly across cognitive-affective domains relevant to suicide probability. However, given the study's cross-sectional single-center design, absence of a healthy control group, modest sample size, and adjustment limited to available covariates, these findings should be interpreted as associations rather than evidence of causality, directionality, or established biomarker utility.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1264-1273"},"PeriodicalIF":1.4,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148865701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DAAM2 gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye. 儿童隐睾症的DAAM2基因变异p.(Asp165Glu)和p.(Asn614ThrfsTer2):一项来自俄罗斯黑海东部地区的假设生成试点病例对照研究。
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-06-30 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6340
Onur Yalçin, Çağrı Doğan
{"title":"<i>DAAM2</i> gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye.","authors":"Onur Yalçin, Çağrı Doğan","doi":"10.55730/1300-0144.6340","DOIUrl":"10.55730/1300-0144.6340","url":null,"abstract":"<p><strong>Background/aim: </strong>Cryptorchidism is the most common congenital anomaly of the male genitourinary system, characterized by a multifactorial etiology. The disheveled-associated activator of morphogenesis 2 (<i>DAAM2</i>) gene regulates androgen receptor (AR)-dependent transcription; its variants are associated with partial androgen insensitivity. Since the inguinoscrotal phase of testicular descent is androgen-dependent, we hypothesized that <i>DAAM2</i> variants contribute to cryptorchidism susceptibility. This pilot study, designed to generate hypotheses rather than to establish association, investigated the frequency of two functionally characterized <i>DAAM2</i> variants, p.(Asp165Glu) and p.(Asn614ThrfsTer2), in pediatric cryptorchidism.</p><p><strong>Materials and methods: </strong>This prospective case-control study included 40 male pediatric cryptorchidism patients and 39 age- and sex-matched healthy male controls. Genomic DNA was extracted from peripheral blood. The p.(Asp165Glu) variant was genotyped by TaqMan allelic discrimination and p.(Asn614ThrfsTer2) by ARMS-PCR with melting curve analysis. Genotype distributions were compared using linear-by-linear association testing with exact p-values, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by binary logistic regression.</p><p><strong>Results: </strong>Heterozygous p.N614Tfs*2 carriage was more frequent in cryptorchidism patients (12.5%, n = 5) than in controls (2.6%, n = 1), with an unadjusted OR of 5.43 (95% CI: 0.6048.78, p = 0.131). Heterozygous p.D165E frequency was similar in both groups (7.5% vs. 7.7%; OR: 1.03, 95% CI: 0.19-5.45, p = 0.974), whereas homozygous p.D165E was identified exclusively in 2 of 40 cryptorchidism patients (5.0%) and in none of the controls, resulting in complete separation in the regression model.</p><p><strong>Conclusion: </strong>Although statistical significance could not be reached due to the limited size of the study group, the observed fivefold increase in heterozygosity of p.(Asn614ThrfsTer2) and the presence of homozygosity of p.(Asp165Glu) in cryptorchidism cases contribute to the literature. These data suggest that <i>DAAM2</i> variants may play a potential role in the etiology of cryptorchidism.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"963-972"},"PeriodicalIF":1.4,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transient bacteremia during coblation-assisted tonsillotomy in children. 消融辅助扁桃体切开术中儿童短暂菌血症。
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-06-25 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6367
Yüce Islamoğlu, Sami Berçin, Bengi Arslan, Gökhan Atik, Mehmet Emin Ak, Muhammed Fatih Özcan, Selman Seçkin, Ezgi Erkiliç, Bedia Dinç
{"title":"Transient bacteremia during coblation-assisted tonsillotomy in children.","authors":"Yüce Islamoğlu, Sami Berçin, Bengi Arslan, Gökhan Atik, Mehmet Emin Ak, Muhammed Fatih Özcan, Selman Seçkin, Ezgi Erkiliç, Bedia Dinç","doi":"10.55730/1300-0144.6367","DOIUrl":"10.55730/1300-0144.6367","url":null,"abstract":"<p><strong>Background/aim: </strong>The aim of this study was to evaluate the incidence of transient bacteremia after coblation-assisted intracapsular partial tonsillectomy (tonsillotomy) in children.</p><p><strong>Materials and methods: </strong>This prospective study included 42 children with grade 3-4 tonsillar hypertrophy who underwent coblation-assisted tonsillotomy for obstructive sleep apnea syndrome. Aerobic and anaerobic blood cultures were obtained preoperatively and immediately after tonsillotomy. Intraoperative throat cultures were also obtained before mucosal manipulation.</p><p><strong>Results: </strong>All preoperative blood cultures were negative. Postoperative blood cultures were positive in two patients (4.8%; 95% CI, 0.6%-16.2%). <i>Streptococcus pyogenes</i> and <i>Actinomyces</i> spp. were isolated. The patient with <i>S. pyogenes</i> bacteremia also had <i>S. pyogenes</i> in the corresponding throat culture. No clinical complications related to transient bacteremia were observed.</p><p><strong>Conclusion: </strong>This is the first study on evaluation of transient bacteremia after coblation-assisted tonsillotomy. Although the technique is minimally invasive, transient bacteremia occurred in 4.8% of the children. Antibiotic prophylaxis should be considered individually in patients at high risk for bacteremia-related complications, in accordance with current recommendations.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1230-1234"},"PeriodicalIF":1.4,"publicationDate":"2026-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Therapeutic potential of nasal kisspeptin-54 for reducing α-synuclein accumulation and restoring hippocampal synaptic plasticity in a 6-hydroxydopamine-induced rat model of Parkinson's disease. 鼻kisspeptin-54在6-羟多巴胺诱导的帕金森病大鼠模型中减少α-突触核蛋白积累和恢复海马突触可塑性的治疗潜力
IF 1.4 4区 医学
Turkish Journal of Medical Sciences Pub Date : 2026-06-19 eCollection Date: 2026-01-01 DOI: 10.55730/1300-0144.6376
Ayşegül Gemici Sinen, Emre Savran, Okyanus Bora Güleç, Osman Sinen, Narin Derin
{"title":"Therapeutic potential of nasal kisspeptin-54 for reducing α-synuclein accumulation and restoring hippocampal synaptic plasticity in a 6-hydroxydopamine-induced rat model of Parkinson's disease.","authors":"Ayşegül Gemici Sinen, Emre Savran, Okyanus Bora Güleç, Osman Sinen, Narin Derin","doi":"10.55730/1300-0144.6376","DOIUrl":"10.55730/1300-0144.6376","url":null,"abstract":"<p><strong>Background/aim: </strong>Parkinson's disease (PD) is characterized by progressive degeneration of dopaminergic neurons and pathological aggregation of α-synuclein (α-syn), leading to significant motor and cognitive impairments. Kisspeptin-54 (KP-54), a neuropeptide primarily involved in reproductive regulation, has recently been implicated in neurorestorative processes, with emerging evidence suggesting beneficial effects on locomotor activity and cognitive function. However, its therapeutic potential in PD has not yet been fully investigated. This study aimed to evaluate the therapeutic efficacy of chronic nasal KP-54 administration in a 6-hydroxydopamine (6-OHDA) rat model of PD, focusing on motor and cognitive outcomes, hippocampal synaptic plasticity, and α-syn pathology.</p><p><strong>Materials and methods: </strong>Adult Sprague-Dawley rats underwent unilateral 6-OHDA injections into the medial forebrain bundle to induce dopaminergic degeneration. Beginning 3 weeks after lesion induction, animals received daily nasal KP-54 or vehicle treatment for an additional 3 weeks. Motor performance was assessed using the catalepsy, beam balance, and open field tests, whereas cognitive function was evaluated using the Y-maze and object location test. Baseline assessments were conducted on day 0 prior to lesion formation. Electrophysiological recordings obtained from the hippocampal CA1 region were used to assess synaptic plasticity. Dopaminergic neuron survival and α-syn accumulation in the substantia nigra and hippocampus were quantified by immunofluorescence analysis.</p><p><strong>Results: </strong>Chronic nasal KP-54 significantly ameliorated motor and cognitive deficits induced by 6-OHDA. KP-54 restored hippocampal synaptic plasticity, enhanced the survival of tyrosine hydroxylase-positive dopaminergic neurons, and reduced α-syn accumulation in both the substantia nigra and hippocampus.</p><p><strong>Conclusion: </strong>The findings indicate that nasal KP-54 administration exerts neurorestorative effects in a 6-OHDA rat model of PD by preserving dopaminergic neurons, improving synaptic function, and attenuating pathological α-syn aggregation. These results position KP-54 as a promising candidate for disease-modifying therapy in Parkinson's disease.</p>","PeriodicalId":23361,"journal":{"name":"Turkish Journal of Medical Sciences","volume":"56 4","pages":"1320-1331"},"PeriodicalIF":1.4,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13528715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148866900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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