Turkish Journal of Medical Sciences最新文献

Background/aim: The aim of the study was to analyze the genotype and phenotype characteristics of Turkish patients with a clinical diagnosis of Stargardt disease and to evaluate how collaboration between the departments of medical genetics and ophthalmology contributes to patient management.

Materials and methods: The clinical findings, genetic testing workflow in the medical genetics department, and the genetic testing results of patients clinically diagnosed with Stargardt disease in the ophthalmology department were retrospectively analyzed.

Results: The study included 50 patients from 46 families. The genetic test reports confirmed the clinical diagnosis of Stargardt disease type 1 (STGD1) in 27 patients (54%), led to revision of the clinical diagnosis in five patients (10%), and were inconclusive in 18 patients (36%). A total of 26 pathogenic ABCA4 variants were reported in 39 patients, three of which were novel: c.466_467dupAT, p.Leu157SerTer2; c.4540-1G>C; c.878delC, p.Met293SerfsTer7. The most recurrent ABCA4 variant was c.5882G>A, p.Gly1961Glu detected in 10 unrelated patients. Patients with biallelic severe ABCA4 variants or biallelic loss of function variants had an earlier age of ascertainment (p = 0.024 and p = 0.008, respectively). The mean interval between the referral of patients from the ophthalmology clinic and the first visit with the medical geneticist was 13.8 days, and the mean time to receive genetic test results with posttest counseling was 6.9 months after the first visit.

Conclusion: This study serves as a representative example of how genetic testing and a multidisciplinary approach can contribute to management of inherited eye diseases. It also reports three novel ABCA4 variants in Turkish patients with Stargardt disease and describes genotype-phenotype correlations. However, conducting multicenter studies with larger sample sizes from Türkiye will be essential to broaden the spectrum of ABCA4 variants and enhance our understanding of genotype-phenotype relationships.

Background/aim: We aimed to evaluate the level of epilepsy-related knowledge and attitude among neurology outpatients without an epilepsy diagnosis.

Materials and methods: The Epilepsy Knowledge and Attitude Scale was applied to 331 adult patients who were evaluated with various diagnoses in the neurology outpatient clinic.

Results: The participants comprised 331 people, 51.4% of whom were women and 48.6% of whom were men. The knowledge and attitude values increase significantly as the education level of our participants increased (p < 0.001). The knowledge and attitude scores of those who knew about an individual with epilepsy were significantly higher (p < 0.001). Attitude scale scores were higher in patients diagnosed with headache, multiple sclerosis, syncope, Behçet's disease, essential tremor and sleep disorders compared with other groups.

Conclusion: This study focused on a subgroup of adults without epilepsy who had other neurological conditions. The findings may illuminate the critical role of education and public awareness in fostering more positive attitudes toward individuals with epilepsy, reducing stigma, and facilitating their social integration.

Background/aim: The immune system functions as a well-coordinated defense mechanism, protecting the host from both external pathogens and internal threats. Cancer cells often display surface antigens that the immune system can recognize as foreign, potentially triggering an immune response. However, many cancer cells evade detection by downregulating or completely losing these surface antigens. The immune system relies on the expression of surface antigens and human leukocyte antigens (HLA) to identify and target tumor cells. One key method by which tumor cells evade natural killer (NK) cells involves alterations in HLA antigens.Colorectal cancer (CRC) is known to cause various changes in the immune system, including the increased expression of HLA antigens on cell surfaces, reduced functionality of NK cells, and mechanisms for immune evasion.The aim of this study was to investigate the possible roles of innate immunity and associated HLA-G molecules in the development of CRC by examining tumor tissue samples.

Materials and methods: We evaluated soluble HLA-G (sHLA-G) levels via ELISA, investigated HLA-G expression loss in tumor samples through immunohistochemistry (IHC), and assessed killer cell immunoglobulin-like receptor (KIR) expression on NK cells in tumor tissues.

Results: No significant correlation was found between HLA-G and sHLA-G levels (p = 0.641). Among patient samples, 16.7% (6 of 36) were positive for HLA-G, with varying intensities, while no staining was observed in control samples. Compared to control samples, IHC staining revealed a significantly higher rate of KIR positivity in CRC tissue samples. One notable finding of our study was the variability in KIR staining intensity within the same tumor. We observed differences in KIR expression not only between tumors, but also within distinct areas of the same tumor. Additionally, a significant relationship was found between KIR expression and age.

Conclusion: In conclusion, this study highlights the increased expression of both HLA-G and KIR markers in CRC patients, suggesting their potential as prognostic and predictive markers. Our findings also suggest that HLA-G and KIR molecules could represent valuable therapeutic targets for future cancer immunotherapy strategies.

Background/aim: To evaluate the clinical, demographic, and complication data of patients with new-onset uveitis at the ophthalmology and rheumatology departments of a single center.

Materials and methods: This retrospective study included patients newly diagnosed with uveitis who were referred to the rheumatology department for etiological evaluation between August 2021 and August 2024. Patients with a history of rheumatologic diseases associated with uveitis were not included in the study.

Results: A total of 91 patients (female: n = 59, 65%) who met the inclusion criteria were enrolled in the study. The mean age at uveitis diagnosis was 45.7 ± 14.8 years. The most common form of uveitis was anterior uveitis (81.3%), followed by intermediate uveitis (14.3%) and panuveitis (4.4%). About one-third of the patients had a rheumatologic etiology (n = 29, 31.9%), with spondyloarthritis being the most common. Approximately one in five patients with newly diagnosed uveitis of rheumatologic etiology developed ocular complications (n = 5, 17.2%), 80% (n = 4) of whom had anterior uveitis and 20% (n = 1) of whom had panuveitis. Macular edema was the most common ocular complication.

Conclusion: Anterior uveitis is generally regarded as more benign, but it still carries a risk of complications. Timely identification and management of systemic autoimmune diseases associated with uveitis may provide a valuable opportunity to prevent ocular complications and visual impairment.

Background/aim: The aim of this study was to investigate the functional outcomes, safety, and effectiveness of low-power (LP) holmium laser enucleation of the prostate (HoLEP) using a 37.5 W holmium laser source.

Materials and methods: We retrospectively reviewed 713 patients with a diagnosis of benign prostatic hyperplasia (BPH) treated with HoLEP using an LP setting (37.5 W laser set to 1.5 J with a frequency of 25 Hz). All procedures were performed by experienced urologists. Functional outcomes, perioperative parameters, and complications were assessed over a 12-month follow-up period. Effect sizes (Cohen's d) and 95% confidence intervals (CI) were calculated to evaluate the magnitude and precision of changes in maximum urinary flow rate (Qmax), postvoiding residual volume (PVR), international prostate symptoms score (I-PSS), and other parameters.

Results: The mean (SD) preoperative serum PSA level was 4.8 ng/mL (3.6), and the mean prostate volume was 94.02 mL (55.35). The average enucleation time was 72.42 min (32.36), morcellation time was 10.35 min (8.62), and total operation time was 82.74 min (38.08). At 1 month after the surgery, significant improvements were observed in I-PSS (from 25.01 (7.62) to 11.02 (5.3), Cohen's d = 2.08, 95% CI 1.91-2.25), Qmax (from 10.7 (4.28) to 18.68 (9.52) mL/s, d = 1.08, 95% CI 0.93-1.22), and PVR (from 139.38 (18.07) to 24.85 (18.07) mL, d = 3.13, 95% CI 2.87-3.39), all with p < 0.001. Transfusion was required in 23 patients (3.2%) and early reoperation in 14 patients (2%). Stress urinary incontinence occurred in 11 patients (1.5%) during late follow-up but was resolved in all cases by the 6th month. These outcomes support the safety and efficacy of LP HoLEP, yielding results comparable to those reported with high-power (HP) laser techniques in the literature.

Conclusions: In this retrospective study, we showed that LP HoLEP can be performed safely and effectively, similar to other enucleation methods; however, further studies are necessary to validate its acceptance as a viable alternative to HP HoLEP.

Background/aim: Epidural fibrosis (EF) plays a significant role in the development of failed back surgery syndrome (FBSS). This study evaluates the antifibrotic effect of hesperidin, a citrus-derived bioflavonoid, within a rat laminectomy model.

Materials and methods: Thirty-two female Wistar albino rats were randomized into four groups (n = 8 each). Group 1 received laminectomy alone (control); Group 2 received a gelatin sponge; Groups 3 and 4 intraperitoneally received 50 mg/kg and 100 mg/kg of hesperidin, respectively, for 7 days post-laminectomy. After 6 weeks, epidural tissues were assessed histopathologically, and hydroxyproline levels were measured.

Results: Group 4 showed significantly lower EF grades compared with Groups 1 and 2 (p < 0.001), and reduced arachnoid invasion compared with Group 1 (p < 0.05). Group 4 had the lowest hydroxyproline levels (1.19 ± 0.05 μg/mL), followed by Group 3 (1.48 ± 0.16 μg/mL), Group 2 (1.67 ± 0.24 μg/mL), and Group 1 (1.94 ± 0.30 μg/mL) (all p < 0.001).

Conclusion: Hesperidin significantly reduced EF and collagen deposition in a dose-dependent manner, demonstrating its potential as a preventive agent for FBSS.

Background/aim: In-stent restenosis (ISR) remains a significant clinical challenge in patients undergoing percutaneous coronary interventions. We investigated the association between Prognostic Nutritional Index (PNI) and ISR in patients with chronic coronary syndrome.

Materials and methods: A total of 1007 patients who underwent coronary angiography for a provisional diagnosis of chronic coronary syndrome between March 1, 2019, and July 1, 2022, were included in the study. They were divided into two groups: ISR (n = 395) and non-ISR (n = 612). PNI was calculated using patients' laboratory values before coronary angiography with the following formula: PNI = (10 × albumin (g/dL)) + (0.005 × total lymphocyte count (per mm³)).

Results: The mean age of the patients was 62 ± 10 years, and 75% of the patients (n = 760) were male. The calculated PNI was 42.83 ± 3.53 in the non-ISR group and 44.43 ± 3.74 in the ISR group (p < 0.001). When the validity of the PNI for ISR was statistically examined, the AUC was calculated as 0.64 (0.61-0.68). The cutoff value for PNI was determined to be 44, which predicted stent ISR with a sensitivity of 61% and a specificity of 61%.

Conclusion: Contrary to the findings in the literature, our study revealed a higher Prognostic Nutritional Index (PNI) value in the stent ISR group than in the non-ISR group. The PNI reflects the current nutritional status, whereas stent ISR is an outcome of a chronic clinical condition.

Background/aim: Laparoscopic surgery has become the preferred minimally invasive technique for both diagnostic and therapeutic procedures in gynecology. Although it is associated with lower overall complication rates compared to open surgery, most serious complications occur during the initial step of abdominal entry. Therefore, developing faster and safer entry methods is critical to improving surgical outcomes. This study aimed to compare the surgical results of the median umbilical ligament lift-up (MULU) technique routinely used in our clinic with the commonly preferred Veress needle (VN) entry technique.

Materials and methods: This randomized, controlled, prospective study included 124 patients: 64 underwent abdominal entry with the MULU technique and 60 with the VN technique. Demographic data such as age, body mass index (BMI), obstetric, surgical history, and menopausal status were recorded. Key perioperative outcomes, including abdominal entry time, number of attempts, insufflation failure, vascular or visceral injury, bleeding at the trocar site, infection, hematoma, and hernia were documented and analyzed.

Results: The VN group had a significantly higher mean age (50.03 years) compared to the MULU group (45.42 years) (p < 0.05). No significant differences were observed in height, weight, or BMI. The MULU technique had a significantly shorter mean entry time compared to VN (71.5 vs. 146.3 s, respectively, p < 0.001). Extraperitoneal insufflation occurred in 6.7% of VN cases and was absent in the MULU group (p = 0.036). Gastric or intestinal injury occurred in 3.3% of VN patients, with none observed in the MULU group. Omental injury was only seen in the MULU group (3.1%). No significant differences were found in vascular injury, bleeding, or prior surgical history.

Conclusions: The MULU technique, based on anatomical guidance via the median umbilical ligament, is a safe and effective method for abdominal entry. It offers faster access and may reduce the risk of major complications, making it a viable alternative to conventional techniques.