Tag: statistics

North Clin Istanb. 2025 Aug 14;12(4):438-444. doi: 10.14744/nci.2024.19794. eCollection 2025.

ABSTRACT

OBJECTIVE: TFE3 rearranged carcinomas constitute 5% of malignant tumours of the kidney in adults. TFE3 immunohistochemistry plays a crucial role in the diagnosis. TFE3 positivity in the appropriate histological context supports the diagnosis of Xp11 translocation renal cell carcinomas. However, there isn’t any standardized approach to performing and interpreting immunohistochemical staining.

METHODS: A total of 51 renal cell carcinomas are included in the study. In this study, we compared the expression profiles of two different anti-TFE3 antibody clones (MRQ37, Cell Marque, and IHC627, GeneAbTM) on renal cell carcinoma samples that have conflicting morphologies and assessed the overall performance of these clones to identify TFE3 rearranged carcinomas.

RESULTS: There was a statistically significant difference in terms of immunohistochemical staining with TFE3-MRQ37 clone between TFE3 rearranged renal cell carcinomas and other subtypes, while no significant difference was found in staining with TFE3-IHC672. 47% of cases were stained with the TFE3-IHC672 clone and 9.8 % of cases were stained with the TFE3-MRQ37 clone at different staining intensities and proportions.

CONCLUSION: The TFE3-MRQ37 clone is easier to interpret because of the absence of background staining and is more reliable in identifying TFE3 rearranged renal cell carcinomas. However, because of various sensitivity and specificity rates, and immunoreactivity in many subtypes of renal cell carcinomas, there is a need for a standardised approach for TFE3 immunohistochemistry for diagnostic use in TFE3-tRCCs.

PMID:41059424 | PMC:PMC12497915 | DOI:10.14744/nci.2024.19794

North Clin Istanb. 2025 Aug 27;12(4):413-418. doi: 10.14744/nci.2025.24603. eCollection 2025.

ABSTRACT

OBJECTIVE: Biofeedback electromyography (EMG) involves the transmission of pelvic and abdominal muscle activity to the patient via visual and sometimes auditory feedback, with the ultimate goal of learning to contract and relax the pelvic muscles at the appropriate times through real-time analysis and feedback. To determine the optimal number of biofeedback therapy sessions required for a therapeutic response in the treatment functional voiding dysfunction.

METHODS: The retrospective data of 779 patients who underwent biofeedback therapy at a tertiary pediatric hospital between 2017 and 2023 were analyzed. The study included patients referred for urinary symptoms and uroflow/EMG findings who did not respond to standard urotherapy and behavioral therapy and completed at least 8 biofeedback sessions. During treatment, methods such as EMG biofeedback, pelvic muscle training, and keeping symptom diaries were utilized. Statistical analyses were performed using the Mann-Whitney U test and Chi-Square test.

RESULTS: Of the patients, 62.4% were female, 37.6% were male, and the mean age was 9.05±3.05 years. The most common urinary symptoms were daytime urinary incontinence (59.4%) and nocturnal enuresis (54%). The average number of sessions required for a therapeutic response was 6±1.3. Female patients showed an earlier response to treatment compared to males (p<0.01). Younger patients demonstrated faster recovery and better response to therapy (p<0.05). Patients who did not respond to therapy had a higher mean age and required more sessions (p<0.05). The higher mean number of sessions in non-responders compared to responders was found to be statistically significant (p=0.001; p<0.05).

CONCLUSION: Biofeedback is an effective and non-invasive treatment method for children with functional voiding dysfunction. Most patients show symptomatic improvement within 1.5-2 months (2-8 sessions – average 6). Male patients may require longer treatment durations, while younger children respond better to therapy. Future studies focusing on factors influencing biofeedback success may contribute to optimizing this treatment.

PMID:41059422 | PMC:PMC12497902 | DOI:10.14744/nci.2025.24603

North Clin Istanb. 2025 Aug 8;12(4):419-424. doi: 10.14744/nci.2024.79577. eCollection 2025.

ABSTRACT

OBJECTIVE: A combination of local anesthetic treatments provides better pain alleviation than periprostatic nerve block (PPNB) alone during a prostate biopsy procedure. The primary objective of this study was to compare Visual Analog Scale (VAS) pain levels during transrectal ultrasound (TRUS)- guided prostate biopsy whilst the use of prilocaine-lidocaine cream, diclofenac suppository, or PPNB only in a prospective, randomized study.

METHODS: This study included 162 patients who had TRUS-guided prostate biopsies performed at the Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Center within a 6 month period, from April to October 2017. Three groups of patients were randomly assigned: group 1 underwent PPNB plus prilocaine-lidocaine cream, group 2 received diclofenac suppository along with PPNB, and group 3 underwent PPNB alone. The VAS was used to measure the degree of pain: VAS 1 was used to record the pain at the time the ultrasound probe was inserted, VAS 2 was used to document the pain during PPNB, and VAS 3 was used to record the pain during needle biopsy. Following the biopsy, any complications or negative consequences were recorded.

RESULTS: Mean age or serum prostate specific antigen (PSA) levels were similar between the three groups. The VAS 1, VAS 2, and VAS 3 pain scores showed statistically significant difference among the three groups (p=0.001). Between groups 1 and 2, there was a statistically significant difference in VAS 1 pain scores (p=0.01). There was no statistically difference in VAS 2 and VAS 3 pain scores between the groups 1 and 2 (p=0.08 and p=0.23, respectively). Patients between the groups 3 and other groups had significantly difference in VAS pain scores (p<0.05).

CONCLUSION: In this study, we highlight that when applied as an adjuvant to PPNB, either 5% prilocaine-lidocaine cream or a 100 mg diclofenac suppository reduced pain levels relative to PPNB alone. When compared to a 100 mg diclofenac suppository, prilocaine-lidocaine cream significantly reduces pain during the insertion and manipulation of the ultrasound probe.

PMID:41059421 | PMC:PMC12497900 | DOI:10.14744/nci.2024.79577

North Clin Istanb. 2025 Aug 8;12(4):468-474. doi: 10.14744/nci.2025.08455. eCollection 2025.

ABSTRACT

OBJECTIVE: Congenital myasthenic syndromes (CMS) represent a group of genetically heterogenous disorders characterized by defective signal transmission at the neuromuscular junction. Although global prevalence of CMS remains uncertain, regional studies have reported varying prevalence rates. This study aimed to define the incidence and prevalence of CMS in Turkiye utilizing data from the national electronic health registry. Additionally, the rate of pyridostigmine prescriptions among patients with CMS was assessed.

METHODS: The study was a retrospective national cohort study, and patients with at least three G70.2 ICD-10 code entries between 1 January 2015 and 22 May 2024 were included. While calculating incidence and prevalence rates official census data from the Turkish Statistical Institute were used.

RESULTS: A total of 406 patients were included in the study, with females comprising 48.8% of the cohort. The mean age at diagnosis was 20.59±21.65 years (median: 12.00, min-max: 0-86). Among the cohort, 58.6% were diagnosed before the age of 18, and 12.3% before the age of one. Pyridostigmine was prescribed at least once to 68.2% of the patients. The annual incidence of CMS ranged from 0.28 to 0.59 per million between 2016 and 2023. In 2023, the incidence and prevalence rates of CMS were calculated as 0.63 and 4.49 per million, respectively.

CONCLUSION: This study represents the first comprehensive nationwide epidemiological analysis of CMS in Turkiye utilizing the national electronic health registry. The study enhances the understanding of the epidemiological landscape of CMS in the country by reporting the current incidence, prevalence, and pyridostigmine prescription rates and underscores the significance of this rare but impactful neuromuscular disorder.

PMID:41059415 | PMC:PMC12497907 | DOI:10.14744/nci.2025.08455

PeerJ. 2025 Oct 3;13:e20145. doi: 10.7717/peerj.20145. eCollection 2025.

ABSTRACT

BACKGROUND: Type 2 diabetes mellitus (T2DM) significantly increases the risk of acute myocardial infarction (AMI). Polymorphisms in the ADIPOQ gene, which encodes the adiponectin hormone, are believed to influence cardiovascular disease risk. This study aims to evaluate the association between three ADIPOQ gene variants-rs266729, rs2241766, and rs1501299-and the risk of AMI in Vietnamese patients with T2DM.

METHODS: A case-control study was conducted from January 2023 to June 2024 at the University Medical Center, Ho Chi Minh City. The study included 275 T2DM patients with a history of AMI (case group) and 275 T2DM patients without AMI (control group). Participants were matched by age, gender, smoking status, and duration of T2DM to control for potential confounding factors. DNA was extracted from peripheral blood samples, and the three polymorphisms were genotyped using Sanger sequencing.

RESULTS: Significant associations were found between ADIPOQ gene polymorphisms and AMI risk. The G/G genotype of rs266729 and the T/T genotype of rs1501299 were associated with a reduced risk of AMI (OR = 0.45, 95% CI [0.23-0.89], p = 0.021; OR = 0.45, 95% CI [0.22-0.90], p = 0.025, respectively). In contrast, the T/G genotype of rs2241766 was significantly associated with an increased risk of AMI (OR = 2.07, 95% CI [1.44-2.97], p < 0.001).

CONCLUSION: This study suggests that rs266729 and rs1501299 may have protective effects, while rs2241766 may increase the risk of AMI in Vietnamese patients with T2DM. These findings highlight the importance of further research into adiponectin levels and long-term monitoring, and support the potential use of genetic variants in personalized cardiovascular risk management for patients with T2DM.

PMID:41059404 | PMC:PMC12499558 | DOI:10.7717/peerj.20145

PeerJ. 2025 Oct 3;13:e20035. doi: 10.7717/peerj.20035. eCollection 2025.

ABSTRACT

BACKGROUND: Intrauterine adhesions (IUA) are a leading cause of acquired female infertility that predominantly arises following surgical intrauterine interventions. Clinical strategies are available for managing IUA, however, the molecular pathogenesis of IUA, particularly the role of immune dysregulation in endometrial repair processes, has not been fully characterized, necessitating comprehensive mechanistic studies.

METHODS: We used computational biology methods to determine the molecular pathogenesis of IUA, the results of which were experimentally validated. (i) We systematically reanalyzed GSE224093, a publicly available endometrial transcriptomic dataset, using GEO2R. Differential gene expression was analyzed with stringent statistical thresholds; the results were immunologically contextualized via intersection with the ImmPort database. (ii) Multilayer functional annotation was conducted using Gene Ontology (GO) enrichment and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway topology analyses. (iii) Weighted gene co-expression network analysis and scale-free topology optimization were used to identify conserved coexpression modules. (iv) Seven hub genes underwent quantitative real-time polymerase chain reaction (qPCR) validation in human and murine models, with four verified using immunohistochemistry (IHC).

RESULTS: Our integrated multiomics analysis identified seven hub genes associated with IUA pathogenesis through GO, KEGG, and GSEA enrichment analyses. The expression levels TUBB3, WNT5A, GDF7, IGF1, and BIRC5 were downregulated, and those of PTGDS and CCL14 were upregulated. The qPCR results confirmed these expression patterns in human and murine endometria (p < 0.05), with TUBB3 and PTGDS species-specifically diverging from the computational predictions. The IHC results provided the corresponding protein expression changes for IGF1, WNT5A, BIRC5, and GDF7 in IUA (p < 0.01). CCL14 could not be amplified in murine models due to technical constraints.

DISCUSSION: We identified seven immune-related gene signatures through integrative bioinformatics. We experimentally validated three genes (TUBB3, PTGDS, and CCL14) demonstrating species-specific expression patterns. We proposed four mechanistically plausible biomarkers (WNT5A, IGF1, BIRC5, and GDF7) for developing IUA diagnostic tools. The conserved dysregulation of WNT5A- and TGF-β-associated genes (GDF7 and IGF1) suggest therapeutic targets for preventing adhesion recurrence. This study advances our understanding of IUA pathogenesis. Single-cell transcriptomics should be examined in future studies to determine the cellular-subtype-specific contributions to IUA.

PMID:41059402 | PMC:PMC12499562 | DOI:10.7717/peerj.20035

J Rural Med. 2025 Oct;20(4):282-293. doi: 10.2185/jrm.2025-035. Epub 2025 Oct 1.

ABSTRACT

OBJECTIVE: This study aimed to clarify the current status of collaboration between type-B continuous employment-support facilities and psychiatric care in Japan and determine the intention of these facilities toward medical collaboration.

METHODS: A self-administered anonymous questionnaire survey was conducted by mail. Basic descriptive statistics were calculated for the questions with multiple-choice responses. For the free descriptions of medical collaborations, we grouped sentences with similar meanings and generated categories.

RESULT: Of type-B employment continuation support offices, 76% collaborated with psychiatrists. However, only 6% incurred an additional fee for the medical collaboration system. They attempted to collaborate with medical care by contacting doctors and nurses and accompanying them during medical examinations. Some respondents stated that they did not need to collaborate with medical care. Type-B facilities often require support from doctors and nurses regarding support for psychiatric symptoms, guidance on medication, and other problems related to illnesses and treatment. Other opinions suggested that persons with mental disabilities should solve their problems themselves without intervention by doctors or nurses and that the support they want is absent. Among type-B continuous employment-support facilities that do not hire nurses, 25% would be unable to hire them, although desired, because of financial difficulties or other reasons, and 72% did not consider doing so.

CONCLUSION: Among the type-B continuous employment-support facilities, 76% collaborated with the psychiatric department. Some respondents indicated that medical collaboration was “Not required”. Among the types of support expected from doctors and nurses, those related to illness and treatment were the most commonly requested. But opinions emerged, including “No support is sought”. Many type-B continuous employment-support facilities that do not employ nurses, do not consider hiring nurses, and the most common reason is “Economically difficult to hire”.

PMID:41059372 | PMC:PMC12497983 | DOI:10.2185/jrm.2025-035

Int J Dent. 2025 Sep 29;2025:5491727. doi: 10.1155/ijod/5491727. eCollection 2025.

ABSTRACT

AIM: Addressing the need for enhanced antibacterial properties in dental materials, this study investigated the impact of integrating zinc oxide nanoparticles (ZnO NPs) and mesoporous ZnO NPs into resin-modified glass ionomer cement (RMGIC) on microhardness and surface roughness.

MATERIALS AND METHODS: Seventy disk-shaped RMGIC specimens were allocated to seven experimental groups: RMGIC (control), RMGIC with 3 wt.% ZnO NPs, 5 wt.% ZnO NPs, 7 wt.% ZnO NPs, 3 wt.% mesoporous ZnO NPs, 5 wt.% mesoporous ZnO NPs, and 7 wt.% mesoporous ZnO NPs. Surface roughness and Vickers microhardness were quantified using a surface profilometer and Vickers microhardness tester, respectively. Statistical analysis was carried out with a significance level set at p < 0.05.

RESULT: Incorporating 5 wt.% of ZnO NPs or mesoporous ZnO NPs into the RMGIC yielded the highest microhardness values, while the control group exhibited the lowest microhardness values. Notably, the microhardness values of RMGIC with 3 and 5 wt.% ZnO NPs or mesoporous ZnO NPs were significantly higher than those of the 7 wt.% concentration. Regarding surface roughness, the control group displayed the highest roughness value, while RMGIC with 5 wt.% mesoporous ZnO NPs exhibited the lowest roughness values. Therefore, incorporating up to 5 wt.% ZnO NPs or mesoporous ZnO NPs led to decreased roughness values, with a notable increase observed at the 7 wt.% concentration, albeit still lower than the control group’s roughness values.

CONCLUSION: Incorporating 5 wt.% ZnO NPs or mesoporous ZnO NPs resulted in significantly enhanced microhardness values compared to the control group and the 7 wt.% concentration. The introduction of up to 5 wt.% NPs led to reduced surface roughness, with the 7 wt.% concentration showing a slight increase in roughness. These findings highlight the importance of optimizing NP concentrations, particularly mesoporous NPs, in RMGIC to enhance mechanical properties, offering valuable insights for the development of dental materials with improved performance characteristics.

PMID:41059355 | PMC:PMC12500347 | DOI:10.1155/ijod/5491727

Hum Genomics. 2025 Oct 7;19(1):115. doi: 10.1186/s40246-025-00772-3.

ABSTRACT

Aging, a complex biological process, entails sequential changes in organisms that elevate the risk of frailty, disease, and mortality, affecting individuals at the level of cellular, organ, and organism. This process is influenced by genetic diversity, socioeconomic status, healthcare infrastructure, lifestyle choices, and cultural practices. Gerontology delves into the factors shaping longevity, aging processes, and aging from both evolutionary and individual perspectives. Centenarians and supercentenarians serve as models for studying exceptional longevity, offering insights into the aging process and resistance to age-related diseases. This research investigates common genetic variations (SNPs) shared among 3 centenarians and 18 supercentenarians, individuals aged 110 years or older. 754,520 SNPs were found to be common among all the 21 samples. Utilizing SNPnexus, a genetic variant annotation tool, we annotated coding variants and assessed potential disease susceptibilities associated with these variants. Ensembl was used as an annotation system, we annotated 1,607,122 variants, and found 11,348 coding variants. Among them, 4980 had non-synonymous variants, and 110 variants were observed to have deleterious effects. These deleterious SNPs were linked with 79 genes among them 16 novel variants were identified in 9 genes. The population frequency comparison using the 1000 Genomes Project and gnomAD revealed that a subset of these common, non-synonymous SNPs and deleterious SNPs had minor allele frequencies (MAF) below 1% or were absent entirely, suggesting potential rare variants specific to this cohort. In addition, we also found statistically significant (p < 0.05) 148 enriched pathways, among them the top enriched pathways such as extracellular matrix (ECM) remodeling, signal transduction, disease-associated pathways, sensory processing and metabolism of proteins and RNA. These preliminary findings may help prioritize candidate variants and genes for future studies on larger cohorts with appropriate controls can help in understanding the genetic basis of exceptional longevity.

PMID:41057961 | DOI:10.1186/s40246-025-00772-3

J Occup Med Toxicol. 2025 Oct 7;20(1):32. doi: 10.1186/s12995-025-00480-7.

ABSTRACT

BACKGROUND: Overweight and obesity have a negative impact on health and have a detrimental effect on the operational readiness of soldiers. Different prevention and intervention measures against obesity include diet, physical activity, education, coaching or medication or a combination of several aspects have been investigated. This review systematically assesses the effectiveness of lifestyle, dietary, educational, and pharmacological interventions on weight, body composition, and military readiness in active-duty personnel.

METHODS: We carried out a systematic review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A search was conducted in various electronic databases from 2000 to July 2024. The search strategy combined three concepts: military population, outcome terms, interventions or programs. For the review, 21 articles met the inclusion criteria (total n = 1696). Where possible, the effect size (ES) was calculated.

RESULTS: In studies that only examined exercise, minor effects were reported, e.g. a reduction in weight (-0.5 kg), Body Mass Index (BMI) (-0.3 kg/m²), waist circumference (-0.1 cm) and body fat percentage (-1.1%) without relevant statistical ES. Studies with nutritional programs reported low to moderate ES. Combined programs including dietary and exercise countermeasures showed to be more effective than programs based on diet or exercise alone. Combined programs with exercise and educational methods showed a moderate to large effect size (ES 0.6-1.3) for weight reduction. Pharmacological treatment for reducing fat intake resulted in a larger effect sizes for weight loss. The greatest efficacy (ES > 1.0) was observed for a combined intervention program consisting of lifestyle changing components based on individually tailored cognitive behavioral therapies, psychoeducation, exercise and nutritional interventions.

CONCLUSIONS: Effective countermeasure for reducing body weight found in this study were combined interventions, like education on lifestyle changes, dietary habits and promotion of physical activity in military personnel, as well as by ketogenic dietary interventions combined with physical activity and followed by pharmacological intervention approaches. Combined interventions appear promising in some studies, but future evaluations may focus on combinations of physical activity and exercise with new pharmaceutical approaches like Semaglutide or Bimagrumab medication in the long term for military personnel due to probable favorable body composition adaptations and military readiness.

PMID:41057950 | DOI:10.1186/s12995-025-00480-7