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Author's Reply. 作者的回答。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.48107
Enver Ipek, Yusuf Sulek, Bahadir Balkanli
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引用次数: 0
ChatGPT's Role in Coronary Artery Bypass Graft Information: A Critical Assessment. ChatGPT在冠状动脉搭桥术信息中的作用:一个关键的评估。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.35493
Hakki Kursat Cetin, Hale Bolgi Demir, Tolga Demir

Objectives: This research evaluates the accuracy and reliability of ChatGPT's responses to inquiries concerning coronary artery bypass graft (CABG) surgery.

Methods: Between December 1, 2024, and December 15, 2024, two sets of questions were used to assess ChatGPT's performance: (1) a list of frequently asked questions (FAQs) sourced from official cardiovascular surgery websites, professional healthcare platforms, and social media, and (2) a list of scientific questions derived from the 2021 American Association for Thoracic Surgery (AATS) Guidelines for CABG in patients with ischemic cardiomyopathy and heart failure. Responses were evaluated using the modified DISCERN scoring system. To test reproducibility, each question was asked twice on separate computers within the same day. Two experienced cardiovascular surgeons independently scored the responses, and any disagreements were resolved through discussion.

Results: A total of 107 FAQs were assessed, of which 88 met the inclusion criteria. Based on the modified DISCERN scale, 71 responses (80.7%) received a score of 5, while 9 responses (10.2%) were rated as 4. The highest accuracy was observed in the preoperative preparation category, where all responses achieved a perfect score. Regarding scientific questions derived from the AATS Guidelines, 15 out of 20 (75.0%) were answered thoroughly and satisfactorily. The reproducibility rate was 92.0% for FAQs and 90.0% for guideline-based questions.

Conclusion: This study is the first to demonstrate that ChatGPT provides highly accurate and dependable responses regarding CABG surgery, particularly for frequently asked questions. Although performance declines slightly when addressing scientific questions based on guidelines, the reproducibility rate remains high. These findings indicate that AI-driven tools like ChatGPT could play a valuable role in patient education and enhancing public awareness about CABG surgery.

目的:本研究评估ChatGPT对冠状动脉旁路移植术(CABG)问询的反应的准确性和可靠性。方法:在2024年12月1日至2024年12月15日期间,使用两组问题来评估ChatGPT的表现:(1)来自心血管外科官方网站、专业医疗保健平台和社交媒体的常见问题(FAQs)列表,(2)来自2021年美国胸外科协会(AATS)缺血性心肌病和心力衰竭患者CABG指南的科学问题列表。使用改进的DISCERN评分系统对回答进行评估。为了测试再现性,每个问题在同一天内在不同的计算机上问了两次。两位经验丰富的心血管外科医生独立评分,任何分歧均通过讨论解决。结果:共评估了107个常见问题,其中88个符合纳入标准。根据修改后的DISCERN量表,71份(80.7%)得到5分,9份(10.2%)得到4分。在术前准备类别中观察到最高的准确性,其中所有反应都达到了满分。对于来自AATS指南的科学问题,20个问题中有15个(75.0%)得到了彻底和满意的回答。常见问题的重现率为92.0%,指南问题的重现率为90.0%。结论:本研究首次证明ChatGPT在CABG手术中提供了高度准确和可靠的答案,特别是对于常见问题。尽管在解决基于指南的科学问题时性能略有下降,但再现率仍然很高。这些发现表明,像ChatGPT这样的人工智能驱动工具可以在患者教育和提高公众对CABG手术的认识方面发挥重要作用。
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引用次数: 0
Ethical Approach in Sharing HIV Test Results with Patients in Türkiye: Evaluation of Patient Impressions with Demographic Data. 与患者分享艾滋病毒检测结果的伦理途径:用人口统计数据评估患者印象。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.87094
Aysun Uyanik Ocal, Sevim Mese, Murat Ocal, Banu Bayraktar, Alper Gunduz, Muammer Osman Koksal, Sevda Ozel Yildiz, Ali Agacfidan

Objectives: In the early years of defining Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS), its prevalence among homosexual men gave rise to prejudices, the development of immunodeficiency, and lethal infections, causing fear and panic in society. Unethical approaches hindered patients from accessing healthcare services, creating substantial barriers from diagnosis to treatment in the fight against HIV/AIDS. This study aimed to explore the diagnostic significance of an ethical approach toward HIV-positive patients, guided by demographic data.

Methods: Demographic patient characteristics and stigmatization during HIV testing were assessed using a 47-question questionnaire. The research commenced on 01/05/2019 and concluded on 01/05/2020, with questionnaires administered online during the COVID-19 pandemic. Statistical analysis employed the SPSS 21.0 (Armonk, New York: IBM Corp.) package, cross-tabulating survey questions and comparing answers using the Chi-square test. Additionally, multivariate logistic regression analysis was conducted to identify factors associated with perceptions of ethical violations.

Results: The study included 121 participants, with 91% identifying as male, 3% as female, 1.7% stating another gender identity, 2.5% declining to specify, and 1.7% not responding to the question. Participant ages ranged from 19 to 66 years, with a mean of 37.9±10.5. Prior to HIV testing, written consent was obtained from 62.8% of patients, while 37.2% declined to provide consent. Among those who consented, 31.4% reported feeling insufficiently informed about the procedure. During result disclosure, 25.6% found the approach impolite, with abrupt and insufficient information. Additionally, 24% noted the presence of a third person during disclosure, while 25.6% reported breaches of patient confidentiality. Logistic regression analysis revealed that age was the only statistically significant factor associated with perceived ethical violations (p=0.010).

Conclusion: This study highlights critical ethical deficiencies in Türkiye's HIV testing procedures, with 31.4% of patients reporting inadequate consent and 25.6% experiencing unprofessional result disclosure. These findings underscore the urgent need for patient-centered protocols to ensure ethical standards and reduce stigma.

目标:在确定人类免疫缺陷病毒(艾滋病毒)和获得性免疫缺陷综合症(艾滋病)的最初几年,其在男同性恋者中的流行引起了偏见,免疫缺陷的发展和致命的感染,在社会上引起了恐惧和恐慌。不道德的做法阻碍了患者获得保健服务,在防治艾滋病毒/艾滋病的斗争中造成了从诊断到治疗的重大障碍。本研究旨在探讨以人口统计数据为指导,对hiv阳性患者采用伦理方法的诊断意义。方法:采用47个问题的调查问卷对HIV检测过程中患者的人口学特征和污名化进行评估。该研究于2019年5月1日开始,于2020年5月1日结束,在新冠肺炎大流行期间在线进行问卷调查。统计分析采用SPSS 21.0 (Armonk, New York: IBM Corp.)软件包,交叉表格调查问题,并使用卡方检验比较答案。此外,还进行了多变量逻辑回归分析,以确定与道德违规感知相关的因素。结果:该研究包括121名参与者,其中91%为男性,3%为女性,1.7%表示另一种性别认同,2.5%拒绝说明,1.7%没有回答问题。参与者年龄19 ~ 66岁,平均37.9±10.5岁。在艾滋病毒检测之前,62.8%的患者获得了书面同意,而37.2%的患者拒绝提供同意。在同意的人中,31.4%的人表示对手术了解不够。在结果披露过程中,25.6%的人认为这种方式不礼貌、唐突、信息不充分。此外,24%的人在披露过程中注意到第三方的存在,而25.6%的人报告违反了患者的保密规定。Logistic回归分析显示,年龄是唯一与道德违规感知相关的有统计学意义的因素(p=0.010)。结论:这项研究突出了 rkiye公司HIV检测程序中严重的伦理缺陷,31.4%的患者报告不充分的同意,25.6%的患者报告不专业的结果披露。这些发现强调了迫切需要以患者为中心的方案,以确保道德标准和减少耻辱感。
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引用次数: 0
Dyadic and Sexual Functioning in Psoriasis: A Comparative Study in the Turkish Population. 牛皮癣的双性和性功能:土耳其人群的比较研究。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.03285
Filiz Kulacaoglu, Yusuf Ezel Yildirim, Hande Yelgen Ilyas, Dilan Yeliz Ugurlu, Sezgi Sarikaya Solak

Objectives: Psoriasis is a chronic inflammatory papulosquamous skin disease whose psychological and interpersonal effects are underrecognized. This study aimed to evaluate dyadic adjustment and sexual functioning in patients with psoriasis and their spouses, in comparison with healthy controls.

Methods: The study included three groups: psoriasis patients (n=47), their spouses (n=40), and healthy controls (HC) (n=42). The Psoriasis Area and Severity Index (PASI) and the Dermatology Life Quality Index (DLQI) were administered to the patient group, while the Family Dermatology Life Quality Index (FDLQI) was administered to the spouse group. The Short Form-12 Health Survey (SF-12), the Dyadic Adjustment Scale-Revised (RDAS), the Beck Depression Inventory (BDI), the Beck Anxiety Inventory (BAI), and the Arizona Sexual Experiences Scale (ASEX) were administered to all three groups.

Results: Sexual dysfunction was observed in 83% of patients, 65% of spouses, and 50% of healthy controls. RDAS total and subscale scores (consensus, cohesion, satisfaction) were significantly lower in patients and spouses compared with healthy controls (p<0.001). Patients had significantly higher BDI scores than both spouses (p=0.016) and controls (p=0.002), and significantly lower physical and mental SF-12 scores. In spouses, FDLQI scores positively correlated with BDI (r=0.369, p=0.021) and negatively with SF-12 mental scores (r=-0.505, p=0.001). Regression analysis revealed that depressive symptoms (p=0.004) and disease duration (p=0.049) significantly predicted sexual dysfunction.

Conclusion: Psoriasis exerts a substantial psychosocial burden not only on patients but also on their spouses. Addressing relational and sexual well-being in clinical care may improve overall quality of life for affected couples.

目的:银屑病是一种慢性炎症性丘疹鳞状皮肤病,其心理和人际关系的影响未被充分认识。本研究旨在评估银屑病患者及其配偶的二元调节和性功能,并与健康对照进行比较。方法:研究分为三组:银屑病患者(n=47)、其配偶(n=40)和健康对照(HC) (n=42)。患者组采用银屑病面积及严重程度指数(PASI)和皮肤病生活质量指数(DLQI),配偶组采用家庭皮肤病生活质量指数(FDLQI)。三组均接受短表12健康调查(SF-12)、二元调整量表(RDAS)、贝克抑郁量表(BDI)、贝克焦虑量表(BAI)和亚利桑那性经验量表(ASEX)。结果:83%的患者、65%的配偶和50%的健康对照组出现性功能障碍。与健康对照组相比,患者和配偶的RDAS总分和亚量表得分(共识、凝聚力、满意度)显著降低(p结论:银屑病不仅对患者而且对其配偶施加了巨大的社会心理负担。在临床护理中处理关系和性健康可能会改善受影响夫妇的整体生活质量。
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引用次数: 0
The Association Between Malnutrition, Sarcopenia, and Fracture Risk in Older Adults with Osteoporosis. 老年骨质疏松症患者营养不良、肌肉减少和骨折风险之间的关系。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.61257
Suna Avci, Zehra Kara, Pelin Degirmenci, Seyedehtina Safaei, Duygu Ozata, Hakan Yavuzer, Alper Doventas, Deniz Suna Erdincler

Objectives: The objective of this study is to examine the association between nutritional status and the incidence of fractures in elderly patients with osteoporosis, while also evaluating other clinical, anthropometric, and biochemical factors related to these outcomes.

Methods: Geriatric patients diagnosed with osteoporosis who presented to the outpatient clinic were included from January 2016 to December 2019. In addition to demographic, clinical, anthropometric, and laboratory data, we examined bone mineral density (via DEXA), nutritional status, sarcopenia assessment, and the presence and types of fractures. Nutritional status was assessed using multiple validated tools, including the Geriatric Nutritional Risk Index (GNRI).

Results: A total of 181 patients (79% females) with a mean age of 78.12±6.65 years were included in the study. The fracture incidence recorded during follow-up was 40.88% (n=74). The mean age of the fracture group was significantly higher than that of the non-fracture group. GNRI, with a cut-off value of ≤100.6, significantly distinguished patients without fracture. Sarcopenia was present in 57.46% of patients, with no significant difference between fracture and non-fracture groups (p=0.642). Multivariable logistic regression indicated that older age (OR: 1.090, 95% CI: 1.022-1.162, p=0.009), fewer medications (OR: 0.868, 95% CI: 0.791-0.953, p=0.003), and low DEXA vertebra T-score (OR: 0.436, 95% CI: 0.285-0.668, p<0.001) were independently associated with fracture likelihood.

Conclusion: Malnutrition is correlated with increased fracture risk among older adults with osteoporosis, whereas sarcopenia prevalence was high but not independently associated with fractures.

目的:本研究的目的是研究营养状况与老年骨质疏松患者骨折发生率之间的关系,同时评估与这些结果相关的其他临床、人体测量和生化因素。方法:纳入2016年1月至2019年12月在门诊就诊的骨质疏松症老年患者。除了人口统计学、临床、人体测量学和实验室数据外,我们还检查了骨密度(通过DEXA)、营养状况、肌肉减少症评估以及骨折的存在和类型。使用多种有效工具评估营养状况,包括老年营养风险指数(GNRI)。结果:共纳入181例患者,其中女性79%,平均年龄78.12±6.65岁。随访中骨折发生率为40.88% (n=74)。骨折组的平均年龄明显高于非骨折组。GNRI的截断值≤100.6,对无骨折的患者有明显的区分。骨骼肌减少的发生率为57.46%,骨折组与非骨折组差异无统计学意义(p=0.642)。多变量logistic回归分析显示,年龄较大(OR: 1.090, 95% CI: 1.022-1.162, p=0.009)、用药较少(OR: 0.868, 95% CI: 0.791-0.953, p=0.003)、DEXA椎体t评分较低(OR: 0.436, 95% CI: 0.286 -0.668, p)与老年骨质疏松症患者骨折风险增加相关,而骨骼肌减少症患病率较高,但与骨折无关。
{"title":"The Association Between Malnutrition, Sarcopenia, and Fracture Risk in Older Adults with Osteoporosis.","authors":"Suna Avci, Zehra Kara, Pelin Degirmenci, Seyedehtina Safaei, Duygu Ozata, Hakan Yavuzer, Alper Doventas, Deniz Suna Erdincler","doi":"10.14744/SEMB.2025.61257","DOIUrl":"https://doi.org/10.14744/SEMB.2025.61257","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this study is to examine the association between nutritional status and the incidence of fractures in elderly patients with osteoporosis, while also evaluating other clinical, anthropometric, and biochemical factors related to these outcomes.</p><p><strong>Methods: </strong>Geriatric patients diagnosed with osteoporosis who presented to the outpatient clinic were included from January 2016 to December 2019. In addition to demographic, clinical, anthropometric, and laboratory data, we examined bone mineral density (via DEXA), nutritional status, sarcopenia assessment, and the presence and types of fractures. Nutritional status was assessed using multiple validated tools, including the Geriatric Nutritional Risk Index (GNRI).</p><p><strong>Results: </strong>A total of 181 patients (79% females) with a mean age of 78.12±6.65 years were included in the study. The fracture incidence recorded during follow-up was 40.88% (n=74). The mean age of the fracture group was significantly higher than that of the non-fracture group. GNRI, with a cut-off value of ≤100.6, significantly distinguished patients without fracture. Sarcopenia was present in 57.46% of patients, with no significant difference between fracture and non-fracture groups (p=0.642). Multivariable logistic regression indicated that older age (OR: 1.090, 95% CI: 1.022-1.162, p=0.009), fewer medications (OR: 0.868, 95% CI: 0.791-0.953, p=0.003), and low DEXA vertebra T-score (OR: 0.436, 95% CI: 0.285-0.668, p<0.001) were independently associated with fracture likelihood.</p><p><strong>Conclusion: </strong>Malnutrition is correlated with increased fracture risk among older adults with osteoporosis, whereas sarcopenia prevalence was high but not independently associated with fractures.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 4","pages":"519-526"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146208034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparative Analysis of Girls With Slowly Progressive Central Precocious Puberty Vs. Rapidly Progressive Central Precocious Puberty: Single-Center Experience. 女孩缓慢进行性中枢性性早熟与快速进行性中枢性性早熟的比较分析:单中心经验。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.56957
Busra Tetik Dincer, Aydilek Dagdeviren Cakir, Ahmet Ucar

Objectives: Central precocious puberty (CPP) can present as either slowly progressing CPP (SP-CPP) or rapidly progressing CPP (RP-CPP). The speed of progression is critical in determining treatment decisions. This study aims to compare the clinical data between patients who received treatment and those who did not, and to identify factors that may influence the progression in cases of RP-CPP.

Methods: This single-center retrospective observational study includes 406 female patients aged 5-8 years who were followed for CPP at the pediatric endocrinology clinic between 2021 and 2023. The patients were categorized into two groups: those with SP-CPP who did not receive gonadotropin-releasing hormone agonist (GnRHa) treatment (n=252) and those with RP-CPP who did receive GnRHa treatment (n=154). Patients were analyzed according to clinical, laboratory, and radiological findings.

Results: The median age at onset of pubertal signs were 7.2 years (Range 5-8) for the SP-CPP group and 7 (5-8) years for the RP-CPP group (p=0.352). In univariate analysis, Tanner breast stage, luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, peak LH levels, and bone age/chronological age ratios were significantly higher in the RP-CPP group. In multivariate logistic regression analysis, Tanner breast stage (p=0.001) and the bone age/chronological age ratio (p<0.001) were found to be a significant parameter, while other variables were not significant (p>0.05).

Conclusion: In this cohort, the bone age/chronological age ratio is a significant parameter for early detection of rapidly progressing precocious puberty cases. It is crucial to classify early puberty cases by evaluating clinical, laboratory, and radiological findings collectively and to make treatment decisions based on individual assessments.

目的:中枢性性早熟(CPP)可以表现为缓慢进展的CPP (SP-CPP)或快速进展的CPP (RP-CPP)。病情进展的速度是决定治疗决策的关键。本研究旨在比较接受治疗和未接受治疗的患者的临床数据,并确定可能影响RP-CPP进展的因素。方法:本单中心回顾性观察研究纳入406例5-8岁的女性患者,这些患者于2021年至2023年在儿科内分泌科门诊接受CPP随访。将患者分为两组:未接受促性腺激素释放激素激动剂(GnRHa)治疗的SP-CPP患者(n=252)和接受GnRHa治疗的RP-CPP患者(n=154)。根据临床、实验室和放射学结果对患者进行分析。结果:SP-CPP组出现青春期体征的中位年龄为7.2岁(范围5 ~ 8岁),RP-CPP组为7岁(范围5 ~ 8岁)(p=0.352)。单因素分析显示,RP-CPP组Tanner乳房分期、促黄体生成素(LH)、促卵泡激素(FSH)、雌二醇、促黄体生成素峰值水平和骨龄/实足年龄比显著升高。在多因素logistic回归分析中,Tanner乳房分期(p=0.001)和骨龄/实足年龄比(p0.05)。结论:在这个队列中,骨龄/实足年龄比是早期发现快速进展性早熟病例的重要参数。通过综合评估临床、实验室和放射检查结果对性早熟病例进行分类,并根据个人评估做出治疗决定,这一点至关重要。
{"title":"Comparative Analysis of Girls With Slowly Progressive Central Precocious Puberty Vs. Rapidly Progressive Central Precocious Puberty: Single-Center Experience.","authors":"Busra Tetik Dincer, Aydilek Dagdeviren Cakir, Ahmet Ucar","doi":"10.14744/SEMB.2025.56957","DOIUrl":"10.14744/SEMB.2025.56957","url":null,"abstract":"<p><strong>Objectives: </strong>Central precocious puberty (CPP) can present as either slowly progressing CPP (SP-CPP) or rapidly progressing CPP (RP-CPP). The speed of progression is critical in determining treatment decisions. This study aims to compare the clinical data between patients who received treatment and those who did not, and to identify factors that may influence the progression in cases of RP-CPP.</p><p><strong>Methods: </strong>This single-center retrospective observational study includes 406 female patients aged 5-8 years who were followed for CPP at the pediatric endocrinology clinic between 2021 and 2023. The patients were categorized into two groups: those with SP-CPP who did not receive gonadotropin-releasing hormone agonist (GnRHa) treatment (n=252) and those with RP-CPP who did receive GnRHa treatment (n=154). Patients were analyzed according to clinical, laboratory, and radiological findings.</p><p><strong>Results: </strong>The median age at onset of pubertal signs were 7.2 years (Range 5-8) for the SP-CPP group and 7 (5-8) years for the RP-CPP group (p=0.352). In univariate analysis, Tanner breast stage, luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, peak LH levels, and bone age/chronological age ratios were significantly higher in the RP-CPP group. In multivariate logistic regression analysis, Tanner breast stage (p=0.001) and the bone age/chronological age ratio (p<0.001) were found to be a significant parameter, while other variables were not significant (p>0.05).</p><p><strong>Conclusion: </strong>In this cohort, the bone age/chronological age ratio is a significant parameter for early detection of rapidly progressing precocious puberty cases. It is crucial to classify early puberty cases by evaluating clinical, laboratory, and radiological findings collectively and to make treatment decisions based on individual assessments.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 3","pages":"360-365"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. 成年期诊断为遗传性代谢性疾病患者的评价
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.00947
Zumrut Arslan Gulten, Umran Cetincelik, Arda Guler, Gamze Babur Guler

Objectives: Inherited metabolic diseases (IMDs) arise due to deficiencies in enzymes involved in metabolic pathways or other dysfunctions within these pathways, leading to a deficiency of specific end products or the toxic accumulation of intermediate metabolites. These diseases may present at any age with varying clinical courses. With advances in treatment options and increased awareness, IMDs are increasingly being diagnosed and managed in adulthood. This study aims to understand the clinical features and diagnostic processes of patients diagnosed with IMDs during adulthood and to raise awareness regarding these conditions.

Methods: Medical records of adult patients diagnosed with IMDs between June 2022 and June 2024 were retrospectively reviewed. Patients were included if they were diagnosed with an IMD at or above the age of 18. Those diagnosed during childhood but transitioning to adulthood were excluded.

Results: Twenty patients, aged 19-72 years (11 males, 9 females), were diagnosed with IMDs. The mean age of symptom onset was 30 years (range: 15-70 years), and the mean age of diagnosis was 37 years (range: 18-72 years). Diagnoses included Fabry disease (n=10, 20%), familial hypobetalipoproteinemia (FHBL) (n=3, 15%), and alkaptonuria (AKU) (n=2, 10%). Other diagnoses included Gaucher disease, Niemann-Pick disease type B, glycogen storage disease type IIIa (GSD IIIa), glycogen storage disease type XV (GSD XV), and cerebrotendinous xanthomatosis (CTX). Sixty-five percent of patients were identified via family screening, while 35% were diagnosed based on clinical findings supported by biochemical tests. Misdiagnoses before definitive IMD diagnosis included osteoarthritis, psoriatic arthritis, renal failure, heart failure, proteinuria, interstitial lung disease, hepatosteatosis, and nephrolithiasis. Disease-specific treatments were initiated and follow-ups were conducted.

Conclusion: Chronic and mild phenotypes of certain IMDs may pose diagnostic challenges. Increased awareness among healthcare professionals and further studies focusing on differential diagnoses are critical to improving the detection and management of IMDs.

目的:遗传性代谢性疾病(IMDs)是由于参与代谢途径的酶缺乏或这些途径中的其他功能障碍而引起的,导致特定最终产物缺乏或中间代谢物的毒性积累。这些疾病可出现在任何年龄,具有不同的临床病程。随着治疗选择的进步和认识的提高,imd越来越多地在成年期得到诊断和管理。本研究旨在了解成年期被诊断为imd的患者的临床特征和诊断过程,并提高对这些疾病的认识。方法:回顾性分析2022年6月至2024年6月诊断为imd的成人患者的医疗记录。如果患者在18岁或18岁以上被诊断患有IMD,则将其纳入研究范围。那些在儿童期确诊但正在过渡到成年期的患者被排除在外。结果:20例患者,年龄19 ~ 72岁,男11例,女9例。出现症状的平均年龄为30岁(15 ~ 70岁),诊断的平均年龄为37岁(18 ~ 72岁)。诊断包括Fabry病(n=10, 20%)、家族性低脂蛋白血症(FHBL) (n=3, 15%)和尿酸钾(AKU) (n=2, 10%)。其他诊断包括戈谢病、尼曼-皮克病B型、糖原沉积病IIIa型(GSD IIIa)、糖原沉积病XV型(GSD XV)和脑腱黄瘤病(CTX)。65%的患者是通过家庭筛查确定的,而35%的患者是根据生化测试支持的临床结果诊断的。IMD确诊前的误诊包括骨关节炎、银屑病关节炎、肾功能衰竭、心力衰竭、蛋白尿、间质性肺疾病、肝骨化病和肾结石。开始针对疾病的治疗并进行随访。结论:某些IMDs的慢性和轻度表型可能会给诊断带来挑战。提高医疗保健专业人员的认识和进一步研究以鉴别诊断为重点,对于改进imd的检测和管理至关重要。
{"title":"Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.","authors":"Zumrut Arslan Gulten, Umran Cetincelik, Arda Guler, Gamze Babur Guler","doi":"10.14744/SEMB.2025.00947","DOIUrl":"10.14744/SEMB.2025.00947","url":null,"abstract":"<p><strong>Objectives: </strong>Inherited metabolic diseases (IMDs) arise due to deficiencies in enzymes involved in metabolic pathways or other dysfunctions within these pathways, leading to a deficiency of specific end products or the toxic accumulation of intermediate metabolites. These diseases may present at any age with varying clinical courses. With advances in treatment options and increased awareness, IMDs are increasingly being diagnosed and managed in adulthood. This study aims to understand the clinical features and diagnostic processes of patients diagnosed with IMDs during adulthood and to raise awareness regarding these conditions.</p><p><strong>Methods: </strong>Medical records of adult patients diagnosed with IMDs between June 2022 and June 2024 were retrospectively reviewed. Patients were included if they were diagnosed with an IMD at or above the age of 18. Those diagnosed during childhood but transitioning to adulthood were excluded.</p><p><strong>Results: </strong>Twenty patients, aged 19-72 years (11 males, 9 females), were diagnosed with IMDs. The mean age of symptom onset was 30 years (range: 15-70 years), and the mean age of diagnosis was 37 years (range: 18-72 years). Diagnoses included Fabry disease (n=10, 20%), familial hypobetalipoproteinemia (FHBL) (n=3, 15%), and alkaptonuria (AKU) (n=2, 10%). Other diagnoses included Gaucher disease, Niemann-Pick disease type B, glycogen storage disease type IIIa (GSD IIIa), glycogen storage disease type XV (GSD XV), and cerebrotendinous xanthomatosis (CTX). Sixty-five percent of patients were identified via family screening, while 35% were diagnosed based on clinical findings supported by biochemical tests. Misdiagnoses before definitive IMD diagnosis included osteoarthritis, psoriatic arthritis, renal failure, heart failure, proteinuria, interstitial lung disease, hepatosteatosis, and nephrolithiasis. Disease-specific treatments were initiated and follow-ups were conducted.</p><p><strong>Conclusion: </strong>Chronic and mild phenotypes of certain IMDs may pose diagnostic challenges. Increased awareness among healthcare professionals and further studies focusing on differential diagnoses are critical to improving the detection and management of IMDs.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 3","pages":"345-350"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immediate Video-Assisted Thoracoscopic Surgery Versus Chest Tube Drainage in the First Episode of Primary Spontaneous Pneumothorax: A Comparative Study. 即时电视胸腔镜手术与胸管引流治疗原发性自发性气胸的比较研究。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.36937
Ugur Temel, Bulent Arslan, Mehmet Oguzhan Ozyurtkan

Objectives: To compare the outcomes of the patients with primary spontaneous pneumothorax (PSP) treated by immediate video-assisted thoracoscopic surgery (VATS) and chest tube placement in the first episode.

Methods: Fifty patients aged between 18 and 40 years with PSP were grouped regarding the treatment modalities as G1 (patients undergoing chest tube placement, n=25) and G2 (patients undergoing immediate VATS, n=25). VATS procedure consisted of apical blebectomy and partial pleurectomy. Early outcomes (chest tube and hospital duration, and in-hospital complications) and late outcomes (recurrence rate after 10 years) were compared.

Results: In G2, the mean duration of surgery was 40.3±14.5 min. No conversion to thoracotomy was required. The rate of complication was insignificantly higher in G1 (p>0.05). Prolonged air leak was significantly common in G1 (p=0.03). In G2, the duration of chest tube and hospital stay were significantly lower (p=0.03 and p=0.05, respectively). After a follow-up of 10 years, a significantly higher recurrence rate was recorded in G1 (p=0.02). Recurrence was insignificantly higher in smokers (p>0.05), and mostly detected in older patients (p=0.03).

Conclusion: Immediate VATS in the first episode of PSP is an effective treatment to prevent recurrence in patients with PSP. VATS is safe with a lower rate of morbidity, and lower durations of chest tube and hospital stay compared to chest tube treatment.

目的:比较即时电视胸腔镜手术(VATS)与首次胸管置入术治疗原发性自发性气胸(PSP)的疗效。方法:50例年龄在18 ~ 40岁的PSP患者按治疗方式分为G1组(放置胸管组,n=25)和G2组(立即行VATS组,n=25)。VATS手术包括根尖肿物切除术和部分胸膜切除术。比较早期结局(胸管和住院时间,以及院内并发症)和晚期结局(10年后复发率)。结果:G2组平均手术时间为40.3±14.5 min。不需要转开胸手术。G1期并发症发生率无统计学意义(p < 0.05)。G1组长时间漏气明显常见(p=0.03)。G2组胸管时间和住院时间均显著低于对照组(p=0.03, p=0.05)。随访10年后,G1期复发率明显高于G1期(p=0.02)。吸烟者复发率无统计学意义(p < 0.05),且以老年患者居多(p=0.03)。结论:PSP首发即刻VATS是预防PSP复发的有效治疗方法。与胸管治疗相比,VATS是安全的,发病率较低,胸管和住院时间较短。
{"title":"Immediate Video-Assisted Thoracoscopic Surgery Versus Chest Tube Drainage in the First Episode of Primary Spontaneous Pneumothorax: A Comparative Study.","authors":"Ugur Temel, Bulent Arslan, Mehmet Oguzhan Ozyurtkan","doi":"10.14744/SEMB.2025.36937","DOIUrl":"10.14744/SEMB.2025.36937","url":null,"abstract":"<p><strong>Objectives: </strong>To compare the outcomes of the patients with primary spontaneous pneumothorax (PSP) treated by immediate video-assisted thoracoscopic surgery (VATS) and chest tube placement in the first episode.</p><p><strong>Methods: </strong>Fifty patients aged between 18 and 40 years with PSP were grouped regarding the treatment modalities as G1 (patients undergoing chest tube placement, n=25) and G2 (patients undergoing immediate VATS, n=25). VATS procedure consisted of apical blebectomy and partial pleurectomy. Early outcomes (chest tube and hospital duration, and in-hospital complications) and late outcomes (recurrence rate after 10 years) were compared.</p><p><strong>Results: </strong>In G2, the mean duration of surgery was 40.3±14.5 min. No conversion to thoracotomy was required. The rate of complication was insignificantly higher in G1 (p>0.05). Prolonged air leak was significantly common in G1 (p=0.03). In G2, the duration of chest tube and hospital stay were significantly lower (p=0.03 and p=0.05, respectively). After a follow-up of 10 years, a significantly higher recurrence rate was recorded in G1 (p=0.02). Recurrence was insignificantly higher in smokers (p>0.05), and mostly detected in older patients (p=0.03).</p><p><strong>Conclusion: </strong>Immediate VATS in the first episode of PSP is an effective treatment to prevent recurrence in patients with PSP. VATS is safe with a lower rate of morbidity, and lower durations of chest tube and hospital stay compared to chest tube treatment.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 3","pages":"316-320"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Parental Awareness of Retinopathy of Prematurity in Türkiye: A Cross-Sectional Study. 父母对<s:1>基耶早产儿视网膜病变的认识:一项横断面研究。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.34634
Mehmet Egemen Karatas, Sumeyra Keles Yesiltas, Semra Tiryaki Demir, Gamze Karatas, Ali Bulbul

Objectives: This study aimed to evaluate the awareness, knowledge, and attitudes of parents regarding retinopathy of prematurity (ROP) and its follow-up in a tertiary referral center.

Methods: In this cross-sectional survey conducted at a single ROP center in Turkey from March to August 2025, 608 parents of infants born at <34 weeks' gestation and/or ≤1700 g birth weight, and those of infants with higher gestational age or birth weight who required cardiopulmonary support, completed a validated 15-item questionnaire during their infant's first ROP examination. A structured questionnaire, including sociodemographic data, knowledge about ROP, its consequences, treatment options, and adherence to follow-up, was administered. Associations between parental education level and ROP awareness were analyzed.

Results: Among 608 parents (59% mothers, 41% fathers; mean age 29.7±3.2 years), only 16.6% recognized that ROP screening differs from a routine eye exam. Overall, 81% were unaware of ROP, and 86% did not know it could cause blindness. Only 14% had received information about ROP, mainly from physicians (63.5%) or the internet (34.1%). While 71% were unsure about treatability and 37% acknowledged the importance of follow-up, 90% reported willingness to attend recommended visits. Higher educational level was significantly associated with ROP awareness (p<0.001), with university-educated parents showing the greatest knowledge (p<0.05).

Conclusion: Parental knowledge regarding ROP examinations was generally found to be low. A higher level of knowledge about ROP was observed among university graduates. Efforts to improve adherence to ROP follow-up should include systematic training programs for healthcare professionals, structured guidance for parents, and the widespread implementation of educational materials. In this context, integrating targeted educational interventions into routine care may contribute to long-term success in ROP management.

目的:本研究旨在评估家长对早产儿视网膜病变(ROP)及其随访的认识、知识和态度。方法:本横断面调查于2025年3月至8月在土耳其的一个ROP中心进行,608名在该中心出生婴儿的父母(59%为母亲,41%为父亲,平均年龄29.7±3.2岁)中,只有16.6%的父母认识到ROP筛查与常规眼科检查不同。总的来说,81%的人不知道ROP, 86%的人不知道它会导致失明。只有14%的人接受过ROP信息,主要来自医生(63.5%)或互联网(34.1%)。虽然71%的人不确定可治疗性,37%的人承认随访的重要性,但90%的人表示愿意参加推荐的就诊。结论:家长对ROP考试的了解程度普遍较低。大学毕业生的ROP知识水平较高。提高ROP随访依从性的努力应包括对医疗保健专业人员的系统培训计划,对家长的结构化指导,以及广泛实施教育材料。在这种情况下,将有针对性的教育干预纳入常规护理可能有助于ROP管理的长期成功。
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引用次数: 0
Reconstruction of Middle and Distal Third Crus Defects with Peroneal Artery Perforator Flap. 腓动脉穿支皮瓣重建第三小腿中、远端缺损。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-10-13 eCollection Date: 2025-01-01 DOI: 10.14744/SEMB.2025.60133
Omer Faruk Dilek, Soysal Bas, Sabri Ozturk, Kamuran Zeynep Sevim

Objectives: Reconstruction of lower extremity soft tissue defects, which may occur due to various reasons, is challenging. Although different methods have been described in lower extremity reconstruction, the peroneal artery perforator flap has unique advantages. This study aims to present the use of the peroneal artery perforator flap, which is gaining popularity day by day, to treat crus defects.

Methods: Twelve patients with middle or distal third crus defects who underwent reconstruction with peroneal artery perforator flaps were included in the study. The patients were evaluated according to age, gender, etiology, complications, defect area, and defect and flap size. The etiology included chronic wounds in one patient, trauma in six, and tumors in five. Among the patients diagnosed with tumors, two had squamous cell carcinoma, two had malignant melanoma, and one had dermatofibrosarcoma protuberans.

Results: The average age of the patients was 45.9 years. Four of the patients were female, and eight were male. Nine of the defects were located in the middle third of the crus, and three were distal. The flaps ranged in size from 78 to 210 cm2. Venous insufficiency was observed in two flaps, and partial necrosis developed distally in one of them. All flaps survived.

Conclusion: The peroneal artery perforator flap is a versatile option that can be used in the middle and distal parts of the crus.

目的:由于各种原因,下肢软组织缺损的重建具有挑战性。虽然在下肢重建中有不同的方法,但腓动脉穿支皮瓣具有独特的优势。本研究的目的是介绍腓动脉穿支皮瓣的应用,这是日益普及,治疗小腿缺损。方法:对12例经腓动脉穿支皮瓣重建的中、远端第三足缺损患者进行研究。根据年龄、性别、病因、并发症、缺损面积、缺损及皮瓣大小对患者进行评估。病因包括1例慢性伤口,6例外伤,5例肿瘤。在被诊断为肿瘤的患者中,2例为鳞状细胞癌,2例为恶性黑色素瘤,1例为隆突性皮肤纤维肉瘤。结果:患者平均年龄45.9岁。其中4名患者为女性,8名患者为男性。9个缺损位于小腿中部三分之一,3个缺损位于小腿远端。皮瓣的大小从78到210平方厘米不等。两个皮瓣静脉功能不全,其中一个皮瓣远端出现部分坏死。所有的襟翼都存活了下来。结论:腓动脉穿支皮瓣是一种可用于小腿中、远端部位的多功能选择。
{"title":"Reconstruction of Middle and Distal Third Crus Defects with Peroneal Artery Perforator Flap.","authors":"Omer Faruk Dilek, Soysal Bas, Sabri Ozturk, Kamuran Zeynep Sevim","doi":"10.14744/SEMB.2025.60133","DOIUrl":"https://doi.org/10.14744/SEMB.2025.60133","url":null,"abstract":"<p><strong>Objectives: </strong>Reconstruction of lower extremity soft tissue defects, which may occur due to various reasons, is challenging. Although different methods have been described in lower extremity reconstruction, the peroneal artery perforator flap has unique advantages. This study aims to present the use of the peroneal artery perforator flap, which is gaining popularity day by day, to treat crus defects.</p><p><strong>Methods: </strong>Twelve patients with middle or distal third crus defects who underwent reconstruction with peroneal artery perforator flaps were included in the study. The patients were evaluated according to age, gender, etiology, complications, defect area, and defect and flap size. The etiology included chronic wounds in one patient, trauma in six, and tumors in five. Among the patients diagnosed with tumors, two had squamous cell carcinoma, two had malignant melanoma, and one had dermatofibrosarcoma protuberans.</p><p><strong>Results: </strong>The average age of the patients was 45.9 years. Four of the patients were female, and eight were male. Nine of the defects were located in the middle third of the crus, and three were distal. The flaps ranged in size from 78 to 210 cm<sup>2</sup>. Venous insufficiency was observed in two flaps, and partial necrosis developed distally in one of them. All flaps survived.</p><p><strong>Conclusion: </strong>The peroneal artery perforator flap is a versatile option that can be used in the middle and distal parts of the crus.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 4","pages":"476-481"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Medical Bulletin of Sisli Etfal Hospital
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