Turkish Journal of Medical Sciences最新文献

Background/aim: Autosomal recessive polycystic kidney disease is an inherited kidney disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using next-generation sequencing (NGS) and to classify them in terms of being pathogenic according to The American College of Medical Genetics and Genomics.

Materials and methods: NGS analysis was performed on the DNA of 304 patients who were referred to Ege University Molecular Medicine Laboratory with suspected polycystic kidney disease.

Results: As a result, a total of 82 different DNA variants, 16 of which were novel, were detected. The breakdown of the variants found is as follows: 73 (89.02%) were missense variants, six (7.32%) nonsense variants, two (2.44%) frameshift deletions, and one (1.22%) nonframeshift deletion. According to The American College of Medical Genetics and Genomics classification of these variants, 26 were benign (Class 5), two were likely benign (Class 4), 36 were of uncertain significance (Class 3), and nine were likely pathogenic (Class 2), nine of which are pathogenic variants (Class 1). Heterozygosity was found in 39 (63.9%) patients, homozygosity in six (9.8%) patients, compound heterozygosity in 12 (19.7%) patients, and complex genotype in four (6.6%) patients in which variants in Class 1, Class 2 and Class 3 were determined according to ACMG classification. When the exon distributions of the DNA variants detected in the PKHD1 gene were analyzed, the most common exons of the DNA variant are exon 32 (n = 9), exon 58 (n = 8), exon 67 (n = 6), exon 61 (n = 5), 30 exons (n = 4).

Conclusion: This fast and economical molecular diagnostic approach will provide a reliable prenatal diagnostic option, enabling definitive disease diagnosis and the identification of carriers.

Background/aim: Lung transplantation is the treatment of last resort for many chronic lung diseases. Airway complications (AC) following lung transplantation, such as bronchial stenosis, dehiscence, malacia, and fistula, account for frequent hospital admissions, additional treatment costs, decreased quality of life, and reduced survival rates. Beyond surgical and medical preventive efforts, interventional bronchoscopy (IB) can be used in the management of these complications. The aim of the study is to evaluate the efficacy of IB on the management of AC following lung transplantation.

Materials and methods: A retrospective analysis was done using the data of lung transplant patients with AC referred to the interventional pulmonology unit between December 2012 and December 2019.

Results: From a total of 116 lung transplants, the data of 14/116 (12%) patients and 14/220 (6.3%) anastomoses in the same lung transplant group with AC requiring IB were analyzed. In these 14 patients, the diseases leading to lung transplantation were interstitial lung diseases (ILD) (50.0%), bronchiectasis (28.6%), pulmonary arterial hypertension (PAH) (7.1%), chronic obstructive pulmonary disease (COPD) (7.1%), and COPD + bronchiectasis (7.1%). Airway stenosis was the most common airway complication, and it developed mostly in the right bronchial system.The 14 patients underwent 27 total sessions of IB with an average of 2-3 per patient. Airway patency was successfully achieved in 74.1% of the procedures. Mechanical dilatation with a balloon and/or a rigid tube was the most preferred procedure (81.5%). Permanent airway patency was achieved in eight (57.4%) patients. No early complications were encountered (0%). The late complication rate was 48.1%. The most frequent late complication was restenosis, which cannot be directly attributed to IB.

Conclusion: IB is safe to perform on lung transplant patients with AC. It has low procedural complication rates and can be performed repeatedly. Because of the high rate of restenosis, interventional pulmonologists should find out treatment modalities with lower rates of restenosis.

Background/aim: Preterm infants often continue to have feeding difficulties after hospital discharge. Parental use of assessment tools and collaboration with health professionals are important for the early diagnosis of postdischarge feeding difficulties. This methodological study examined the validity and reliability of the Turkish version of the Neonatal Eating Assessment Tool (NeoEAT)-Bottle-feeding in postdischarge preterm infants in Türkiye.

Materials and methods: A Turkish version of the NeoEAT-Bottle-feeding was developed and applied to 321 mothers of preterm infants younger than 7 months of corrected age between August 2021 and December 2022. Cronbach's alpha, exploratory factor, confirmatory factor, item-total correlation, test-retest, and known-groups validity analyses were performed.

Results: The Turkish NeoEAT-Bottle-feeding has 60 items in five factors explaining 55.785% of the total variance. Exploratory factor analysis indicated that the item factor loading ranged from 0.320 to 0.792. The known-group validity analysis confirmed that preterm infants with diagnosed feeding problems had higher total and subscale scores than those without (p = 0.001). The Cronbach's alpha (α) of the entire scale was 0.96. The item-total correlation coefficients were between 0.31 and 0.77 (p = 0.001). There was excellent agreement between test values and retest values obtained after a 2-week interval (intraclass correlation coefficient: 0.930-1.000).

Conclusion: The Turkish NeoEAT-Bottle-feeding was shown to be a reliable and valid parent-reported assessment tool for oral feeding skills and difficulties after neonatal intensive care unit discharge in bottle-fed preterm infants younger than 7 months of corrected age. Healthcare professionals can use this assessment tool during the initial evaluation of risk factors contributing to problematic feeding and to determine the effectiveness of planned interventions in preterm infants.

Background/aim: In the literature, almost all of the nerve conduits proposed for obtaining better nerve recovery were applied as graft materials. In this study, we aimed to propose a new nerve conduit model with a flap pattern and evaluate the effect of a pedicled vascularized jejunal flap on nerve regeneration after wrapping it around a sciatic nerve.

Materials and methods: A total of 90 Wistar albino rats were randomly divided into nine groups with 10 rats in each. The first three groups constituted the control groups, whereas Groups 4-6 were the jejunum conduit (JC)-applied groups. A mucosa-resected JC (MRJC) was applied in Groups 7 and 8. Epineurial neurorrhaphy was performed in Groups 1, 4, and 7; repair with a nerve graft was applied in Groups 2, 5, and 8; and a 1-cm-long nerve defect was created in Groups 3, 6, and 9. After 2 months of follow-up, nerve regeneration was assessed by statistical analyses of the Sciatic Functional Index (SFI) and histopathological evaluation.

Results: The MRJC groups had significantly better results in terms of SFI (p = 0.005). Statistical differences in axonal degeneration, axonal density, myelination, and disorganization were found between all control groups and MRJC groups (p = 0.022, p = 0.001, p = 0.001, and p = 0.039, respectively).

Conclusion: In this study, the feasibility of wrapping around the nerve repair zones of pedicled autologous flaps designed in a tubular fashion was observed in a small rat model. The findings must be further validated with larger animals before clinical testing.

Background/aim: Mucinous breast carcinoma (MBC) is thought to be a favorable-differentiated form of invasive breast cancer and is rarely preferred for neoadjuvant chemotherapy (NAC). The study aimed to define the response of MBCs to NAC.

Materials and methods: A review was made of the demographic, clinicopathologic characteristics, management and follow-up data of 70 patients diagnosed with MBC between May 2010 and December 2020 by examining the patients' historical files and oncology records.

Results: The median age, tumor size, and follow-up period of patients were 52.9 (range: 32-87) years, 25.8 (range: 8-88) mm, and 61.5 (range: 18-143) months, respectively. Of the 70 patients, 45 had conservative surgery, 25 had a mastectomy, and 22 had axillary clearance due to a positive sentinel node biopsy or clinical axilla. Eight patients (11.4%) received NAC. Twenty-one patients (30.0%) received adjuvant chemotherapy, whereas almost all the patients received hormone therapy. The preoperative core biopsy diagnosis of four of eight patients receiving NAC was unspecified invasive breast carcinoma. NAC was used as treatment in patients who were younger, had tumors larger in diameter, had tumors with an initial higher T-stage, and especially those with clinically positive axilla, and tumors with a higher Ki-67 index. Despite these preference criteria, both the overall mastectomy and axillary clearance rates were significantly higher in these patients. Two local and five systemic recurrences were observed in the follow-up period. NAC had no significant contribution to survival.

Conclusion: It may be concluded that NAC is not sufficiently effective in either helping to diminish the need for mastectomy by downsizing the tumor, or in preventing axillary clearance in MBCs, and no significant benefit on survival could be observed. In addition, the results may emphasize the importance of identifying the MBC subtype, and the significant association between the degree of response to NAC and the subtype.

Background/aim: Thrombomodulin (TM) is found on endothelial cell surfaces and increases in response to endothelial injury of different organs. Interleukin (IL)-8 regulates pulmonary inflammation. TM and IL-8 are candidate biological markers of acute respiratory distress syndrome (ARDS). The aim of the present study was to compare TM and IL-8 levels in pediatric patients with and without ARDS who received respiratory support and to determine their relationships with prognosis.

Materials and methods: This was a prospective observational study of 55 patients who received respiratory support in the pediatric intensive care unit. Eighteen patients without active infection were defined as the control group. Two blood samples were taken for serum IL-8 and TM levels on the first and third days of respiratory support.

Results: The patient group had significantly higher IL-8 and TM levels than the control group [median IL-8: 102.7 (IQR: 180.42-189.47) vs. 45.4 (55.14-70.49) ng/L, p = 0.011; median TM: 6.9 (6.83-9.18) vs. 3.4 (3.62-5.05) ng/mL, p = 0.021]. Patients with ARDS had significantly higher marker levels on the first and third days than those who did not have ARDS. The TM and IL-8 levels of deceased patients were significantly higher than those of the survivors on the first day. In mortality prediction, the cut-off point for IL-8 was found to be >154.7 ng/L, which had sensitivity of 76.9% and specificity of 73.8%. The cut-off point for TM was >8.4 ng/mL, which had sensitivity of 76.9% and specificity of 66.7%.

Conclusion: In our study, higher marker levels correlated with impaired oxygenation and higher mortality. Higher TM and IL-8 levels in ARDS might reflect the degree of vascular injury and inflammation.

Background/aim: We aimed to compare the results of open surgery and double-port laparoscopic-assisted extracorporeal suturing repair for the treatment of Morgagni hernia (MH).

Materials and methods: Twenty-two patients with MH who were operated on in our clinic between January 2012 and January 2023 were included in the study. Patients were divided into two groups according to the surgical technique: open surgery (OS) (n = 14) or laparoscopic surgery (LS) (n = 8). Retrospective comparisons were made between the groups' demographic information, surgical method used, defect size, operation time, length of hospital stay, costs, postoperative problems, and recurrence.

Results: There were no statistically significant differences between the groups regarding sex, defect size, or costs. The mean age of the patients in the LS group (101 ± 68.3 months) was significantly higher than that of the OS group (23 ± 18.2 months) (p = 0.005). The operation time of the LS group (33.8 ± 3.6 min) was significantly shorter than that of the OS group (50.8 ± 6.5 min) (p < 0.01). Moreover, the LS group's mean length of hospitalization (1.6 ± 0.9 days) was significantly lower than that of the OS group (2.8 ± 0.7 days) (p = 0.027).

Conclusion: Double-port laparoscopic-assisted extracorporeal suturing repair is a reliable technique preferred over open surgical repair due to its shorter operative time and hospital stay, ease of application, better cosmetic results, and no cost difference.

Background/aim: This study evaluates anatomical reduction and rigid internal fixation of mandibular condyle fractures using the preauricular retroparotid approach. It also discusses advantages, deficiencies, and associated complications of the technique.

Materials and methods: This retrospective study reviewed the medical records of a total of 52 mandibular condyle fractures from 42 patients who were treated with open surgery using the preauricular retroparotid approach between January 2019 and January 2024. Preoperative and postoperative assessments included measurements of mouth opening (maximum interincisal distance), vertical mandibular movement, and facial paralysis. Moreover, the Vancouver Scar Scale (VSS) was used to evaluate scar quality at the surgical site. Descriptive statistics were used to summarize patient demographics, preoperative findings, and postoperative outcomes.

Results: Anterior open bite was the most common finding, detected in 83% of the patients before surgery. The mean mouth opening of the patients increased significantly from 29 ± 4.94 mm to 37.76 ± 2.12 mm. Vertical mandibular movement exceeding 4 cm was a finding in more than half (52.3%) of the patients. The mean VSS score, indicating scar quality, was 1.64 ± 0.70, suggesting overall good cosmetic outcomes. Plate breakage in two patients was noted as a complication during follow-up.

Conclusion: Several surgical techniques have been described for mandibular condyle fractures, each with its own benefits and limitations.

The aim of this study is to examine the risks associated with the use of artificial intelligence (AI) in medicine and to offer policy suggestions to reduce these risks and optimize the benefits of AI technology. AI is a multifaceted technology. If harnessed effectively, it has the capacity to significantly impact the future of humanity in the field of health, as well as in several other areas. However, the rapid spread of this technology also raises significant ethical, legal, and social issues. This study examines the potential dangers of AI integration in medicine by reviewing current scientific work and exploring strategies to mitigate these risks. Biases in data sets for AI systems can lead to inequities in health care. Educational data that is narrowly represented based on a demographic group can lead to biased results from AI systems for those who do not belong to that group. In addition, the concepts of explainability and accountability in AI systems could create challenges for healthcare professionals in understanding and evaluating AI-generated diagnoses or treatment recommendations. This could jeopardize patient safety and lead to the selection of inappropriate treatments. Ensuring the security of personal health information will be critical as AI systems become more widespread. Therefore, improving patient privacy and security protocols for AI systems is imperative. The report offers suggestions for reducing the risks associated with the increasing use of AI systems in the medical sector. These include increasing AI literacy, implementing a participatory society-in-the-loop management strategy, and creating ongoing education and auditing systems. Integrating ethical principles and cultural values into the design of AI systems can help reduce healthcare disparities and improve patient care. Implementing these recommendations will ensure the efficient and equitable use of AI systems in medicine, improve the quality of healthcare services, and ensure patient safety.

Background/aim: In ulcerative colitis (UC), serum vascular endothelial growth factor (sVEGF) concentrations are elevated and there are conflicting results about serum calprotectin (SCP) and sVEGF as biomarkers. We aimed to evaluate the relationship between sVEGF and SCP levels in UC patients and the associations of these molecules with the phenotypes of UC.

Materials and methods: This prospective case-control study included 60 UC patients and 30 healthy controls. The Mayo Clinical Score (MCS) was used to evaluate patients' clinical features and the Mayo Endoscopic Score (MES) was used to evaluate endoscopic features of the cases. The method proposed by Truelove and Richards was applied in calculating the histology activity index (HAI). Human sVEGF (Cat.E0080Hu) and human calprotectin (Cat.E4010Hu) kits were used for the enzyme-linked immunosorbent assay (ELISA) measurements of sVEGF and SCP levels.

Results: The median sVEGF and SCP levels were higher in the patient group compared to the healthy control group [2139 ng/L (126-5783) vs. 888 ng/L (715-5270), p = 0.002 and 932 ng/L (99-2648) vs. 80 ng/L (56-920), p < 0.001, respectively]. There was a strong correlation between SCP and sVEGF values (rho = 0.819, p < 0.001). The MCS, MES, and HAI values were positively correlated with sVEGF and SCP concentrations.

Conclusion: sVEGF and SCP may be valuable auxiliary biomarkers for UC.