Medical Bulletin of Sisli Etfal Hospital最新文献

{"title":"Clinical Characteristics and Pregnancy Outcomes of Thyrotoxicosis During Pregnancy: A Retrospective Observational Study.","authors":"Ummu Mutlu, Ayşe Merve Ok Kurt, Evin Bozkur","doi":"10.14744/SEMB.2026.88528","DOIUrl":"https://doi.org/10.14744/SEMB.2026.88528","url":null,"abstract":"<p><strong>Objectives: </strong>Thyrotoxicosis during pregnancy may be associated with adverse maternal and foetal outcomes; however, data comparing overt and subclinical thyrotoxicosis are limited. This study aimed to evaluate clinical characteristics, management, and pregnancy outcomes, and to explore associations with the achievement of euthyroidism in pregnant women with thyrotoxicosis.</p><p><strong>Methods: </strong>This retrospective study included 70 pregnant women diagnosed with thyrotoxicosis who presented to the outpatient clinics between 2022-2023. Patients were classified as having overt (n=34) or subclinical (n=36) thyrotoxicosis based on trimester-specific thyroid function tests. After excluding three patients with Graves' disease and one with a molar pregnancy, 31 overt and 35 subclinical gestational thyrotoxicosis patients were included in the analyses. Demographic features, clinical findings, biochemical parameters standardized as multiples of the upper limit of normal, treatment data, and pregnancy outcomes were obtained from medical records. Correlation analyses were performed to evaluate associations between gestational week and thyroid function tests.</p><p><strong>Results: </strong>The mean age was 29.6±5.3 years, and the mean GW at diagnosis was 10.7±3.0, with no significant differences between groups. At diagnosis, TSH was lower and fT4/fT3 higher in overt thyrotoxicosis compared to subclinical cases (p<0.05). Euthyroidism was achieved at a mean of 17.1±4.0 weeks, without significant group differences. Prior antithyroid drug therapy had been initiated in 18.2% of patients, mainly with PTU, with similar doses and treatment durations between groups. Pregnancy outcomes were available for 42 patients; 13 experienced complications (oligohydramnios, preterm delivery, pre-eclampsia, gestational diabetes, and intrauterine foetal death). Complication rates did not differ between groups, although anti-TPO positivity was more frequent among patients with complications (p=0.006). Correlation analyses showed that earlier gestational age at diagnosis was associated with higher thyroid hormone levels, while later achievement of euthyroidism correlated with lower TSH and higher peak fT3.</p><p><strong>Conclusion: </strong>Pregnancy outcomes were similar in overt and subclinical thyrotoxicosis. Gestational age at diagnosis was associated with thyroid hormone levels but not with maternal or foetal complications. Most patients achieved euthyroidism during pregnancy, and anti-TPO positivity was more common among those with pregnancy complications.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"60 1","pages":"103-111"},"PeriodicalIF":0.9,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147693002","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}

{"title":"Comparison of the Therapeutic Effects of Intra-Articular Injection of Ozone and Corticosteroid in Knee Osteoarthritis.","authors":"Aylin Ayyildiz, Selda Ciftci Inceoglu, Beril Dogu, Banu Kuran","doi":"10.14744/SEMB.2025.52460","DOIUrl":"https://doi.org/10.14744/SEMB.2025.52460","url":null,"abstract":"<p><strong>Objectives: </strong>Knee osteoarthritis (KOA) is a chronic condition that gradually reduces functional capacity and limits daily activities. Treatment methods in the early stages of the disease are still under discussion. The efficacy of ozone therapy versus corticosteroid injection in treating KOA is examined in this study.</p><p><strong>Methods: </strong>This randomized clinical trial involved 60 patients aged 40-85 years who had been experiencing knee pain for at least 6 months and had received a clinical diagnosis of knee osteoarthritis through radiologic imaging. The patients were randomly assigned to two groups. One group received an intra-articular injection of 10 mL 15 µg/ml ozone for three sessions with a one-week interval, while the second group received a 1 mL intra-articular injection of betamethasone. All patients were evaluated before treatment, as well as 4 and 12 weeks after the first dose of treatment. The study evaluated treatment efficacy using the Visual Analog Scale (VAS) and the Western Ontario and McMaster Universities Arthritis Index (WOMAC).</p><p><strong>Results: </strong>The study participants had a mean age of 62.2±10 years, and 90% of them were female. Upon comparing the VAS and WOMAC scores with their respective pretreatment scores, both groups showed significant decreases at week 4 and week 12. Notably, the ozone group exhibited a significantly greater improvement in VAS and WOMAC scores at week 4.</p><p><strong>Conclusion: </strong>Intra-articular ozone injections have a rapid effect and provide better short-term results for KOA. In later periods, it has a similar effect to corticosteroids.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"60 1","pages":"30-35"},"PeriodicalIF":0.9,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147692232","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}

{"title":"Evaluation of Sexual Dysfunctions in Male Patients with Androgenetic Alopecia.","authors":"Osman Vural, Ilknur Kivanc Altunay, Asli Aksu","doi":"10.14744/SEMB.2026.66915","DOIUrl":"https://doi.org/10.14744/SEMB.2026.66915","url":null,"abstract":"<p><strong>Objectives: </strong>Androgenetic alopecia (AGA) is a common dermatologic condition among men. In this study, we aimed to investigate psychological comorbidities, sexual dysfunctions, and the relationship between them in male patients with AGA.</p><p><strong>Methods: </strong>A total of 220 individuals aged between 18 and 45 years who applied to our dermatology outpatient clinic between June 2022 and June 2023 were included in this study, including 110 healthy male volunteers and 110 male patients diagnosed with AGA. To collect information about the individuals comprising the sample, a sociodemographic characteristics form prepared by the researcher, the Hospital Anxiety and Depression Scale (HADS), the Body Perception Scale (BPS), the Golombok-Rust Inventory of Sexual Satisfaction (GRISS), and the Sexual Health Inventory for Men (SHIM) were completed by the participants under the supervision of the researcher. The severity of AGA was determined using the Hamilton-Norwood Scale (HNS).</p><p><strong>Results: </strong>In our study, it was found that the patient group was statistically significantly more negatively affected in terms of body satisfaction and had higher levels of anxiety, depression, and sexual dysfunction compared with the control group (p=0.028, p=0.001, p=0.001, respectively). It was found that impotence and the tendency to avoid sexual intercourse increased as anxiety symptoms increased in patients with AGA (p=0.010, r=0.245; p=0.006, r=0.259, respectively). Furthermore, an increase in depressive symptoms in patients with AGA was shown to increase the tendency toward erectile dysfunction and premature ejaculation (p=0.027, r=-0.210; p=0.001, r=0.366, respectively).</p><p><strong>Conclusion: </strong>Physicians should take into account that AGA may trigger anxiety, depression, decreased body satisfaction, and sexual dysfunction in male patients, and patients should be evaluated in a multidisciplinary manner. While our study sheds light on future research, larger sample studies are needed to clarify these relationships.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"60 1","pages":"16-23"},"PeriodicalIF":0.9,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147692639","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}

{"title":"Author's Reply.","authors":"Enver Ipek, Yusuf Sulek, Bahadir Balkanli","doi":"10.14744/SEMB.2025.48107","DOIUrl":"https://doi.org/10.14744/SEMB.2025.48107","url":null,"abstract":"","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 3","pages":"441"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031133","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}

{"title":"ChatGPT's Role in Coronary Artery Bypass Graft Information: A Critical Assessment.","authors":"Hakki Kursat Cetin, Hale Bolgi Demir, Tolga Demir","doi":"10.14744/SEMB.2025.35493","DOIUrl":"10.14744/SEMB.2025.35493","url":null,"abstract":"<p><strong>Objectives: </strong>This research evaluates the accuracy and reliability of ChatGPT's responses to inquiries concerning coronary artery bypass graft (CABG) surgery.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 3","pages":"311-315"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146031093","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}

{"title":"Ethical Approach in Sharing HIV Test Results with Patients in Türkiye: Evaluation of Patient Impressions with Demographic Data.","authors":"Aysun Uyanik Ocal, Sevim Mese, Murat Ocal, Banu Bayraktar, Alper Gunduz, Muammer Osman Koksal, Sevda Ozel Yildiz, Ali Agacfidan","doi":"10.14744/SEMB.2025.87094","DOIUrl":"https://doi.org/10.14744/SEMB.2025.87094","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 4","pages":"482-491"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207867","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}

{"title":"Dyadic and Sexual Functioning in Psoriasis: A Comparative Study in the Turkish Population.","authors":"Filiz Kulacaoglu, Yusuf Ezel Yildirim, Hande Yelgen Ilyas, Dilan Yeliz Ugurlu, Sezgi Sarikaya Solak","doi":"10.14744/SEMB.2025.03285","DOIUrl":"https://doi.org/10.14744/SEMB.2025.03285","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":"59 4","pages":"510-518"},"PeriodicalIF":0.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146207951","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}

{"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}

{"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}

{"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}