Medicina[JOURNAL]
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200 papers
Impact of Gut Microbiota on the Clinical Course and Treatment Outcomes of Colorectal Cancer-A Systematic Review.
Kyrochristou I, Fousekis F, Kyrochristou GD … +6 more , Schizas D, Pappas-Gogos G, Raptis D, Ioannidis O, Vlachos K, Lianos GD
Medicina (Kaunas) · 2026 May · PMID 42356063 · Full text
As colorectal cancer research focuses on improving screening policies and treatment strategies, the gut microbiome is emerging as a novel diagnostic and prognostic biomarker. This systematic review aims to present the av...
As colorectal cancer research focuses on improving screening policies and treatment strategies, the gut microbiome is emerging as a novel diagnostic and prognostic biomarker. This systematic review aims to present the available data on the role of gut microbiota in colorectal cancer diagnosis, prognosis, and treatment response. A systematic search under the PRISMA recommendation was conducted in PubMed database, until February 2026. Original human studies evaluating associations between gut microbiome composition and CRC diagnosis, survival outcomes, or therapeutic response were included. Both stool- and tissue-based analyses were considered. A qualitative synthesis of the data was performed. Thirty-six studies met the inclusion criteria, encompassing case-control cohorts, prospective survival analyses, and early-phase translational trials. Across populations and sequencing methodologies, gut microbiome alterations were consistently identified, with enrichment of oral-derived anaerobes, particularly , and depletion of beneficial commensal taxa in CRC patients compared with controls. Beta-diversity analyses frequently showed distinct clustering of microbial communities between the CRC and control groups, whereas alpha-diversity findings were heterogeneous. Several stool-based multi-species classifiers demonstrated good to excellent diagnostic performance, particularly when combined with established screening modalities. Tumor-associated microbial signatures were further associated with adverse survival outcomes and, in exploratory cohorts, with differential treatment response. Emerging evidence suggests that the microbiome may represent a modifiable environmental factor, particularly relevant in early-onset CRC. The gut microbiome represents a promising adjunctive biomarker for CRC diagnosis and prognostic stratification, with potential implications for precision oncology. However, methodological heterogeneity and the need for prospective validation currently limit its routine clinical implementation.
Neoadjuvant Treatment Versus Upfront Surgery for Resectable Pancreatic Ductal Adenocarcinoma-A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Dușe TA, Ciocan A, Tiburca DE … +9 more , Brata VD, Vidra R, Zaharie FV, Seicean A, Brisc C, Popa C, Moiș E, Tocoian FC, Al Hajjar N
Medicina (Kaunas) · 2026 May · PMID 42356062 · Full text
The role of neoadjuvant or perioperative treatment in anatomically resectable pancreatic ductal adenocarcinoma (PDAC) remains intensely debated, in part because prior evidence syntheses have often pooled resectable and b...
The role of neoadjuvant or perioperative treatment in anatomically resectable pancreatic ductal adenocarcinoma (PDAC) remains intensely debated, in part because prior evidence syntheses have often pooled resectable and borderline-resectable disease. We aim to evaluate the efficacy and safety of neoadjuvant or perioperative treatment versus upfront surgery in trial-defined resectable PDAC using randomized evidence only. We performed a systematic review and meta-analysis of parallel-group randomized controlled trials comparing neoadjuvant therapy with upfront surgery in adults with resectable PDAC. PubMed, CENTRAL, Scopus, and Clarivate Web of Science were searched from inception until 30 November 2025. Mixed resectable- and borderline-resectable trials were included only when outcomes for the resectable subgroup were extractable. The primary outcome was overall survival (OS), analyzed on an intention-to-treat basis. Secondary outcomes included time-to-disease-event (TTDE) endpoints, resection rate, R0 resection, pathological node-negative (pN0) status, postoperative morbidity and mortality, and grade ≥3 adverse events. The review protocol was prospectively registered in PROSPERO (CRD420251243805). Eight randomized controlled trials enrolling 1395 patients, including 1184 patients with resectable PDAC, met the eligibility criteria. Overall survival was available for six trials (seven comparisons totaling 1066 randomized patients) and was not significantly different between neoadjuvant treatment and upfront surgery (HR 0.80, 95% CI 0.59-1.08). TTDE was likewise not significantly different between strategies (HR 0.80, 95% CI 0.58-1.11). Neoadjuvant treatment reduced the likelihood of proceeding to resection (RR 0.90, 95% CI 0.85-0.95), while R0 resection and pN0 rates were numerically but not significantly higher among the resected patients. Postoperative morbidity and mortality were comparable between groups. Exploratory analyses suggested favorable survival estimates in trials with higher neoadjuvant treatment deliverability and completion. In trial-defined resectable PDAC, current randomized evidence does not demonstrate a universal survival advantage for neoadjuvant treatment over upfront surgery. Exploratory trial-level analyses suggested that higher neoadjuvant treatment deliverability and completion were associated with more favorable survival estimates. These findings support a selective, individualized rather than routine use of preoperative strategies in resectable PDAC.
EEG-Derived Entropy Monitoring During Propofol Sedation for ERCP: Sedation Profiles, Age-Related Effects, and Implications for Procedure-Specific Target Ranges.
Popovici SE, Ritiu SA, Sporea I … +4 more , Sandesc D, Bedreag OH, Păpurică M, Popescu A
Medicina (Kaunas) · 2026 May · PMID 42356061 · Full text
: Conventional EEG-derived sedation targets for Entropy monitoring (State Entropy SE 40-60) were established in the context of general anaesthesia and may not be directly applicable to procedural sedation for endoscopic...
: Conventional EEG-derived sedation targets for Entropy monitoring (State Entropy SE 40-60) were established in the context of general anaesthesia and may not be directly applicable to procedural sedation for endoscopic retrograde cholangiopancreatography (ERCP). This study aimed to characterize SE and Response Entropy (RE) trajectories during propofol-based sedation for ERCP and to evaluate their relationships with clinical sedation depth, patient characteristics, and procedural outcomes. In this prospective, single-center observational study, 50 consecutive adult patients undergoing elective ERCP under propofol-based sedation were enrolled. SE and RE were recorded at baseline and at serial intra-procedural timepoints. Time-in-zone analysis classified SE values into predefined ranges. Correlations between Entropy indices and MOAA/S scores, patient factors, Aldrete recovery scores, and adverse events were assessed using Spearman's rank correlation. : The median patient age was 72.5 years (IQR 65.0-79.0), and the median ASA score was 3 (IQR 2-3). Following induction, SE declined from a baseline mean of 89.3 ± 1.5 to a mean of 68.8 ± 5.3 at 10 min, the lowest group-level value recorded; the mean individual SE nadir across patients was 67.2 ± 5.3. No SE values below 40 were observed at any timepoint. Mean time spent within the conventional SE 40-60 target range was 3.7% ± 10.6, while mean time within SE 60-85 was 80.7% ± 8.3. SE at 3 min correlated moderately with MOAA/S at 3 min (Spearman rho = 0.430, = 0.002), with substantial within-category variability. Age showed a strong negative correlation with SE at 3 min (rho = -0.612, < 0.001), an effect that persisted at 5 min, consistent with deeper early EEG suppression in older patients, which may reflect increased pharmacodynamic sensitivity, age-related changes in spectral substrate, or both. ASA score was associated with SE at 15 min only (rho = -0.299, = 0.035). Patients who experienced adverse events demonstrated higher SE instability, though differences did not reach statistical significance. Recovery was rapid, with a median Aldrete score of 10 at 15 min. : During propofol sedation for ERCP, observed SE values operated predominantly between 60 and 85, well above the conventional general anaesthesia target of 40-60. Older age was the strongest predictor of early sedation depth. These findings suggest that in elderly, high-ASA patients receiving propofol-based multi-drug sedation for ERCP, numerical SE values differ systematically from conventional general anaesthesia-derived target ranges. Whether this reflects true procedure-specific sedation requirements or cohort-specific spectral substrate differences warrants prospective outcome-anchored investigation.
Endoscopic-Assisted Adenoidectomy by Microdebrider Versus Coblation in Children.
Abdelsalam H, Abdalla M, Aied N … +3 more , Elaidy SM, Refaat O, Shams Eldin M
Medicina (Kaunas) · 2026 May · PMID 42356060 · Full text
: Adenoidectomy is a common pediatric procedure performed and endoscopic, instrumented techniques such as a powered microdebrider and coblation aim to improve visualization and completeness of resection while potentially...
: Adenoidectomy is a common pediatric procedure performed and endoscopic, instrumented techniques such as a powered microdebrider and coblation aim to improve visualization and completeness of resection while potentially reducing pain, bleeding and recurrence compared with blind curettage. To compare clinical outcomes and safety of endoscopic-assisted adenoidectomy using a microdebrider versus coblation in pediatric patients. : This retrospective comparative cohort study included 50 children who underwent endoscopic-assisted adenoidectomy using either a microdebrider (n = 25) or coblation (n = 25) during a 6-month study period. Operative time (skin-to-skin), pain scores at 24 h, early complications at prespecified intervals, and endoscopic assessment at 6 months were extracted from medical records and compared. : Groups were comparable at baseline (mean age ≈ 9.6 years, all baseline > 0.05). Mean skin-to-skin operative time was significantly shorter with the microdebrider (24.9 ± 6.9 min) than with coblation (31.1 ± 8.4 min), = 0.004. Mean 24 h VAS did not differ significantly between the microdebrider and coblation (3.20 ± 1.21 vs. 2.73 ± 1.30, = 0.191). Early complication rates (postoperative bleeding within 48 h, infection within 7 d, halitosis, neck pain) were low and showed no statistically significant differences (all > 0.05). : Both microdebrider and coblation endoscopic adenoidectomy were safe and effective in this cohort study. The microdebrider was associated with a shorter operative time in our setting, while early pain, short-term complications and six-month endoscopic residual/recurrence were similar between techniques.
Preoperative Inflammatory Blood Biomarkers in Sinonasal Carcinoma: A Scoping Review.
Migliorelli A, Manuelli M, Ciorba A … +3 more , Stomeo F, Pelucchi S, Bianchini C
Medicina (Kaunas) · 2026 May · PMID 42356059 · Full text
: Sinonasal carcinomas are heterogeneous malignancies often associated with poor prognosis because of the locally advanced stage at presentation and high recurrence rates. Easily accessible prognostic biomarkers are ther...
: Sinonasal carcinomas are heterogeneous malignancies often associated with poor prognosis because of the locally advanced stage at presentation and high recurrence rates. Easily accessible prognostic biomarkers are therefore of increasing clinical interest. Systemic inflammatory blood markers have shown prognostic value in several solid tumors, but their role in sinonasal carcinomas remains unclear. : A scoping review was performed according to PRISMA-ScR recommendations. The PubMed/MEDLINE, Scopus, and Embase databases were searched from inception to March 2026. Original English-language studies evaluating preoperative or pre-treatment inflammatory blood biomarkers in sinonasal malignant tumors were included. : Six retrospective single-center studies met the inclusion criteria, comprising 1049 patients. All studies evaluated biomarkers before treatment initiation in cohorts managed primarily with upfront surgery. The neutrophil-to-lymphocyte ratio (NLR) was the most frequently investigated biomarker and the one most commonly associated with adverse oncologic outcomes, including poorer survival, advanced stage, and increased recurrence risk. Additional biomarkers included the platelet-to-lymphocyte ratio, advanced lung cancer inflammation index (ALI), systemic immune-inflammation index (SII), and other composite scores. Preliminary evidence suggests that ALI and SII may provide additional prognostic information beyond isolated inflammatory ratios, although current evidence remains limited. : Preoperative inflammatory blood biomarkers, particularly NLR, appear to be promising, low-cost, and widely accessible prognostic tools for risk stratification in sinonasal carcinomas. However, current evidence is limited by retrospective study design, heterogeneous cohorts, and non-standardized cut-off values. Prospective multicenter studies are needed before routine clinical implementation can be recommended.
Patient Age Is Not a Determinant of 12-Month Pain Response After Autologous Adipose-Derived Stromal Vascular Fraction Injection for Knee Osteoarthritis.
Kim YS, Koh YG
Medicina (Kaunas) · 2026 May · PMID 42356058 · Full text
Autologous adipose-derived stromal vascular fraction (SVF) is increasingly used for symptomatic knee osteoarthritis (OA), but it remains uncertain whether patient age should influence candidacy. We examined whether age w...
Autologous adipose-derived stromal vascular fraction (SVF) is increasingly used for symptomatic knee osteoarthritis (OA), but it remains uncertain whether patient age should influence candidacy. We examined whether age was related to 12-month pain response after intra-articular SVF administration. This retrospective knee-level analysis included 357 knees from 266 patients with Kellgren-Lawrence grade II-IV OA treated with adipose-derived SVF and followed for at least 12 months. Pain was assessed with the visual analog scale (VAS). Group comparisons and Spearman correlation analyses were used to explore relationships between age, baseline variables, injected cell number, and pain outcomes. VAS scores improved from 6.5 ± 1.2 before treatment to 3.1 ± 1.6 at final assessment ( < 0.01). Age did not show a significant association with baseline pain ( = 0.128), final pain ( = 0.088), or measured baseline factors. Higher body mass index, more severe radiographic OA, and lower SVF cell number were associated with less favorable final pain scores. No serious treatment-related adverse event was identified. SVF injection was followed by significant pain reduction at 12 months. In this cohort, chronological age was not a meaningful determinant of response, whereas metabolic burden, structural OA severity, and delivered cell dose were more relevant clinical factors. These results argue against excluding patients from SVF treatment solely because of age.
MRI and Ultrasound of the Thoracolumbar Fascia in the Setting of Degenerative Spinal Diseases.
Martonovich N, De Luca C, Fede C … +5 more , Angelini A, Ruggieri P, Behrbalk E, Stecco C, Pirri C
Medicina (Kaunas) · 2026 May · PMID 42356057 · Full text
: The thoracolumbar fascia (TLF) has been implicated in low back pain, but imaging-based characterization in degenerative lumbar disorders, particularly in surgical cohorts, remains limited. To describe MRI-derived and U...
: The thoracolumbar fascia (TLF) has been implicated in low back pain, but imaging-based characterization in degenerative lumbar disorders, particularly in surgical cohorts, remains limited. To describe MRI-derived and US-derived TLF thickness estimates in a heterogeneous degenerative lumbar surgical cohort and explore preliminary imaging patterns and associations with selected clinical variables. : In this prospective single-center cohort, adults scheduled for elective lumbar surgery underwent preoperative US (short- and long-axis at L3) and review of routine lumbar MRI (axial and sagittal T1-weighted measurements at L3) using standardized protocols. Twenty-six patients were included (15 with lumbar spinal stenosis, five with lumbar disc herniation, four with spondylolisthesis, and two with scoliosis). Disability was assessed using the Oswestry Disability Index (ODI). Exploratory subgroup comparisons, correlation analyses, and Bland-Altman agreement analysis were used to examine subgroup patterns, patient-factor associations, and MRI-US agreement. : Interpretable data were available for 19 axial MRI, 18 sagittal MRI, 19 short-axis US, 15 long-axis US, and 19 ODI assessments; paired MRI-US measurements were available in 11 cases for sagittal/long-axis analysis and 12 for axial/short-axis analysis. Mean TLF thickness was 0.89 ± 0.33 mm on axial MRI, 1.16 ± 0.48 mm on sagittal MRI, 2.53 ± 1.44 mm on short-axis US, and 2.49 ± 1.14 mm on long-axis US. Exploratory subgroup analyses showed a between-diagnosis difference only for axial-MRI-derived TLF thickness ( = 0.007), with lower thickness in disc herniation than in stenosis ( = 0.008), while sagittal MRI and US thickness measures did not differ between groups ( ≥ 0.301). ODI was not consistently associated with TLF thickness on MRI or US. : In this exploratory surgical cohort, US-derived TLF thickness values were higher than those previously reported in the literature, suggesting possible fascial alteration in degenerative lumbar disease. However, TLF thickness was not consistently associated with disability, and MRI- and US-derived measurements should be interpreted as modality-specific estimates rather than interchangeable values. Given the small heterogeneous cohort and measurement constraints, these findings are descriptive and preliminary, but they provide an imaging framework to guide future standardized studies.
Management of Complex Three-Wall Orbital Fractures with Digital Planning and Patient-Specific Two-Piece Implants.
Catarzi L, Cirignaco G, Gilli M … +5 more , Lo Giudice R, Gladi M, Chiesa-Estomba CM, Vaira LA, Consorti G
Medicina (Kaunas) · 2026 May · PMID 42356056 · Full text
: The surgical management of three-wall orbital fractures remains a significant challenge due to complex anatomy, limited exposure, and the absence of clear landmarks. These extensive reconstructions are rare and traditi...
: The surgical management of three-wall orbital fractures remains a significant challenge due to complex anatomy, limited exposure, and the absence of clear landmarks. These extensive reconstructions are rare and traditionally burdened by high complication rates and inconsistent outcomes. This study presents a standardized surgical protocol for complex three-wall orbital reconstruction, highlighting the role of digital planning and a novel two-piece interlocking patient-specific implant (PSI). : Between 2018 and 2024, 17 patients with unilateral three-wall orbital fractures underwent reconstruction using digitally planned, patient-specific two-piece titanium implants designed to restore the orbital floor, medial, and lateral walls. Implant positioning was assessed through qualitative evaluation of postoperative CT scans and quantitative comparison between planned and actual implant positions, as well as orbital volume analysis between reconstructed and unaffected orbits. Clinical outcomes were evaluated pre- and postoperatively. : Reconstruction was classified as ideal in 16 cases (94.1%) and satisfactory in one case (5.9%). Quantitative analysis demonstrated a high level of concordance between the planned and postoperative implant positions, with a mean deviation of 0.982 ± 0.107 mm (95% CI: 0.927-1.037 mm). All implants were positioned within 1.5 mm of the planned location. Postoperative orbital volumes closely approximated those of the contralateral side, with a mean volume difference of 1.371 ± 0.176 cm (95% CI: 1.280-1.461 cm). Diplopia resolved in all patients, and enophthalmos was fully corrected in 15 cases (88.2%). No major complications or revision surgeries were observed. : The proposed two-piece interlocking PSI enabled precise and reproducible reconstruction of complex three-wall orbital fractures. This approach demonstrates that even technically demanding orbital reconstructions can be performed with greater reliability, leading to favorable functional and aesthetic outcomes.
Preliminary Clinical and Functional Outcomes After Combined Treatment of Lateral Osteochondral Lesions of the Talus and Chronic Ankle Instability Using Autologous Minced Cartilage and Retinaculum Flap Augmentation.
Klos K, Landgraeber S, Roth KE … +4 more , Penev P, Bachelier F, Wagener J, Winter P
Medicina (Kaunas) · 2026 May · PMID 42356055 · Full text
Osteochondral lesions of the lateral talar shoulder (OLT) represent a significant therapeutic challenge, particularly when associated with chronic lateral ankle instability (CAI). While bone marrow stimulation is well es...
Osteochondral lesions of the lateral talar shoulder (OLT) represent a significant therapeutic challenge, particularly when associated with chronic lateral ankle instability (CAI). While bone marrow stimulation is well established for talar lesions, clinical evidence on the minced cartilage technique (AutoCart™, Arthrex, Naples, FL, USA) in this specific localization remains limited. This study aimed to evaluate the short-term clinical and functional outcomes following combined treatment of lateral OLT and CAI using autologous minced cartilage and open ligament repair. Nine patients (mean age: 39.8 years) with symptomatic lateral OLT and concomitant CAI were treated using the minced cartilage technique in conjunction with lateral ligament reconstruction. The mean defect size was 64.8 ± 30.2 mm. Clinical and functional outcomes were assessed at a mean follow-up of 15.8 months using the Foot Function Index (FFI), Visual Analog Scale (VAS) for pain, return-to-sport status, and a motor-cognitive test (Skillcourt system). Postoperative complications and patient satisfaction were recorded. No postoperative complications occurred. All patients reported satisfaction with surgical outcomes. The mean postoperative FFI was 14.92 ± 12.74, indicating minimal functional limitations in daily life. Skillcourt testing revealed no significant side-to-side differences in most tests, except for the Single Leg Stability Test, which showed a significant deficit on the operated side ( = 0.027; Cohen's d = 0.9). Reduced dorsiflexion limited test performance of four patients. The average postoperative VAS during functional testing was 1.42 ± 1.62. : Combined treatment of lateral OLT and CAI using the minced cartilage technique and open ligament stabilization yields favorable short-term clinical and functional outcomes. Despite minor limitations in dorsiflexion, patients achieved high satisfaction rates and functional recovery. These preliminary findings support the technical feasibility and short-term clinical applicability of combining biological cartilage repair with mechanical stabilization for lateral talar lesions < 100 mm. However, larger prospective studies with longer follow-ups are warranted to validate these findings.
rs3213094 as a Predictor of Early Response to Biologic Therapy in Psoriasis: A Real-World Study in a Romanian Cohort.
Matei-Man AM, Gaal IO, Catana A … +7 more , Vesa S, Senila S, Candrea E, Orasan M, Puskas A, Man AC, Mocan T
Medicina (Kaunas) · 2026 May · PMID 42356054 · Full text
: Psoriasis is a chronic immune-mediated inflammatory disease characterized by heterogeneous clinical presentation and variable response to biologic therapy. Genetic variation within the IL-23/Th17 inflammatory pathway m...
: Psoriasis is a chronic immune-mediated inflammatory disease characterized by heterogeneous clinical presentation and variable response to biologic therapy. Genetic variation within the IL-23/Th17 inflammatory pathway may influence treatment outcomes. This study evaluated the association between rs3213094 and rs11209026 single-nucleotide polymorphisms (SNPs) and response to biologic therapy in patients with moderate-to-severe psoriasis. : We conducted a multicenter observational study including 92 Romanian patients with moderate-to-severe psoriasis vulgaris receiving their first biologic therapy (anti-TNF, anti-IL-17, or anti-IL-23 monoclonal antibodies). Clinical response was assessed using the Psoriasis Area and Severity Index (PASI) at baseline and weeks 12, 24, 36, and 48. Early response was defined as achieving PASI75 at week 12. Patient-reported disease impact was assessed using the Dermatology Life Quality Index (DLQI) at the same time points. Genotyping of rs3213094 and rs11209026 was performed using TaqMan assays. Longitudinal PASI dynamics were analyzed using repeated-measures ANOVA, while multivariable logistic regression was used to identify independent predictors of PASI75 at week 12. : A significant reduction in PASI scores over time was observed ( < 0.001). The rs3213094 genotype was associated with differences in early response kinetics, with T-allele carriers showing significantly greater PASI improvement at week 12 compared with CC homozygotes (90.0% vs. 65.7%, = 0.003). This effect was limited to early treatment and attenuated at later time points. In multivariable analysis, the rs3213094 CT + TT genotype was independently associated with PASI75 achievement at week 12 (OR = 4.285, 95% CI 1.500-12.239, = 0.007). Treatment with anti-IL-17 agents was also an independent predictor of early response (OR = 3.946, 95% CI 1.416-10.998, = 0.009). No significant association was observed between rs11209026 and treatment response. DLQI scores improved significantly over time ( < 0.001), without genotype-dependent differences. : rs3213094 SNP is significantly associated with early biologic treatment response in psoriasis, supporting its potential role as a pharmacogenetic biomarker of treatment responsiveness. These findings may inform the integration of genetic markers into personalized therapeutic strategies, particularly in underrepresented populations such as those from Eastern Europe. Further studies in larger cohorts are warranted to validate these results.
Genetic Diagnosis of Non-Syndromic Hearing Loss in South Indian Consanguineous Families Using Whole-Exome Sequencing.
Swetha J, Vetriselvan Y, Murugan M … +5 more , Ganesh I, Ravikumar S, Rangarajalu K, Manju M, Bhat BV
Medicina (Kaunas) · 2026 May · PMID 42356053 · Full text
: Hereditary hearing loss is the most common auditory disability among various disabilities. Consanguineous populations have been found to have autosomal recessive disorders twice as often as in the general population. T...
: Hereditary hearing loss is the most common auditory disability among various disabilities. Consanguineous populations have been found to have autosomal recessive disorders twice as often as in the general population. This study aimed to highlight the phenotypic and genetic complexity of non-syndromic hearing loss (NSHL) in South Indian consanguineous families. : Whole-exome sequencing (WES) was performed on individuals with NSHL who were negative for common deafness-causing genes (, , , and ). The candidate variants identified were correlated with ROH regions identified using the Automap tool. Sanger sequencing was performed for validation, followed by segregation analysis for the available family members. The effects of the candidate variants were analyzed using an in silico structural approach and the ACMG guidelines. WES identified variants, including a stop-gain, an indel, and a missense mutation, in the genes , , , and . Three variants were classified as likely pathogenic, one variant as a variant of uncertain significance (VUS), and one variant as likely benign. Homozygous variants in and were identified within ROH regions, indicating autosomal recessive inheritance. Additionally, two heterozygous variants in the and genes were identified. This study indicates a high degree of genotypic and phenotypic heterogeneity of hearing loss among affected individuals. : This integrated approach, which combines homozygosity mapping with WES, could be effective for diagnosing NSHL in affected individuals. Further genetic screening and characterization of NSHL in consanguineous families is also warranted. Genetic testing in high-risk populations could be a valuable method for diagnosing genetic hearing loss in children.
Association Between Clinical Dysphagia Assessment Tools and Videofluoroscopic Findings in Amyotrophic Lateral Sclerosis: A Retrospective Study.
Manay B, Aygün D, Şentürk A … +3 more , İbas M, Güven R, Belli Ş
Medicina (Kaunas) · 2026 May · PMID 42356052 · Full text
: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease frequently associated with dysphagia and aspiration risk. This study aimed to investigate the relationship between clinical dysphagia assessment tools...
: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease frequently associated with dysphagia and aspiration risk. This study aimed to investigate the relationship between clinical dysphagia assessment tools (EAT-10, GUSS, RSST, and sialorrhea severity) and videofluoroscopic swallowing study (VFSS) findings in patients with ALS. : This retrospective observational study included 60 patients with ALS classified as spinal-onset ( 38) or bulbar-onset ( 22). Relationships between clinical assessments and VFSS findings were analysed using Spearman correlation analysis. Exploratory multivariable regression and receiver operating characteristic (ROC) analyses were performed to evaluate associations and aspiration risk discrimination. : Strong negative correlations were observed between PAS-Liquid and RSST and GUSS scores, whereas EAT-10 showed a strong positive correlation (all < 0.001). ROC analyses demonstrated good discriminative ability for aspiration risk for GUSS (AUC = 0.89), RSST (AUC = 0.88), and EAT-10 (AUC = 0.82). Patients with bulbar-onset ALS demonstrated higher penetration-aspiration severity and lower functional oral intake. : Clinical dysphagia assessment tools showed significant associations with instrumental swallowing findings in ALS. GUSS and RSST demonstrated good discriminative ability for aspiration risk and may be clinically useful bedside screening tools. However, instrumental swallowing assessment remains essential whenever feasible.
Effect of an Intravenous Acetaminophen/Ibuprofen Fixed-Dose Combination on Catheter-Related Bladder Discomfort: A Prospective, Randomized, Placebo-Controlled, Double-Blind Pilot Study.
You HJ, Jung JY, Kwon W … +2 more , Cho SA, Sung TY
Medicina (Kaunas) · 2026 May · PMID 42356051 · Full text
: Catheter-related bladder discomfort (CRBD) commonly arises as a direct consequence of perioperative urinary catheterization. A fixed-dose combination of 1000 mg acetaminophen and 300 mg ibuprofen provides multimodal an...
: Catheter-related bladder discomfort (CRBD) commonly arises as a direct consequence of perioperative urinary catheterization. A fixed-dose combination of 1000 mg acetaminophen and 300 mg ibuprofen provides multimodal analgesia. In this study, we assessed the impact of this fixed-dose combination on mitigating CRBD in patients undergoing urological procedures. : In this prospective pilot study, 23 patients undergoing urological surgery requiring urinary catheterization were randomized into two groups; approximately 20 min before the anticipated end of surgery, patients were administered a combination of 1000 mg acetaminophen and 300 mg ibuprofen (intervention group, = 11) or saline (control group, = 12). The primary endpoint was the incidence of CRBD immediately after the patient's arrival at the post-anesthetic care unit (PACU). The incidence of CRBD at 1, 2, and 6 h postoperatively and the severity of CRBD at each time point were also assessed. : The incidence of CRBD immediately after arrival at the PACU was lower in the intervention group (54.5% vs. 100%, = 0.014). However, no significant differences in overall CRBD incidence were observed at later postoperative time points. The incidence of moderate CRBD was lower in the intervention group at 0 h and 1 h ( = 0.036 and 0.037, respectively). : The findings of this pilot randomized trial provide preliminary evidence that intravenous acetaminophen and ibuprofen may reduce early postoperative CRBD following urological surgery. Given the small sample size and single-center design, larger multicenter randomized studies are needed to confirm these findings.
Assessment of Cardiovascular Risk in Long-Term Type 1 Diabetes: The Role of Adiponectin and Leptin.
Chausheva G, Shefket S, Bocheva Y … +5 more , Tsochev K, Chalakova T, Usheva N, Yotov Y, Iotova V
Medicina (Kaunas) · 2026 May · PMID 42356050 · Full text
: Individuals with long-standing type 1 diabetes (T1D) remain at elevated cardiovascular risk (CVR). Adiponectin (ADNC) and leptin (LEP) are adipokines involved in metabolic and vascular homeostasis, yet their relevance...
: Individuals with long-standing type 1 diabetes (T1D) remain at elevated cardiovascular risk (CVR). Adiponectin (ADNC) and leptin (LEP) are adipokines involved in metabolic and vascular homeostasis, yet their relevance for CVR stratification in T1D is unclear. This study examined the associations of ADNC and LEP with CVR categories derived from the Steno Type 1 Risk Engine (ST1RE) and the 2019 ESC Guidelines on Diabetes, Pre-diabetes and Cardiovascular Diseases (ESC 2019), with particular attention to potential sex-related differences. : A cross-sectional study included 124 adults with long-standing T1D and 59 age- and sex-matched non-diabetic participants. Serum ADNC and LEP concentrations were measured using standardized immunoassays. CVR was assessed using ST1RE and ESC 2019 algorithms. Multivariable models adjusted for age and body mass index (BMI) were used to examine determinants of adipokine concentrations and their associations with CVR categories. : Participants with T1D exhibited higher circulating ADNC concentrations than non-diabetic individuals ( < 0.001). LEP levels were significantly associated with sex ( < 0.001). In adjusted analyses, sex and BMI remained significantly associated with adipokine concentrations. Higher LEP levels showed a significant positive association with higher ESC 2019 CVR category (OR 1.84; 95% CI 1.19-2.84; = 0.006), whereas ADNC and the LEP × sex interaction showed no significant association. Neither adipokine was significantly associated with ST1RE-derived risk categories. : In adults with long-standing T1D, LEP showed an association with ESC 2019-based CVR stratification, whereas neither LEP nor ADNC was associated with ST1RE-derived risk categories.
Preoperative CT-Based Pelvic Sarcopenia and Subcutaneous Adiposity Are Associated with Anaemia and Operative Time in Acetabular Fracture Surgery: A Retrospective Cohort Study.
Okur KT, Abdulaliyev F, Yalçın S … +4 more , İştahlı E, İştahlı M, Koç A, Ozan F
Medicina (Kaunas) · 2026 May · PMID 42356049 · Full text
: Acetabular fracture surgery is associated with substantial perioperative blood loss and prolonged operative time. Routine preoperative pelvic computed tomography (CT) carries information about body composition that is...
: Acetabular fracture surgery is associated with substantial perioperative blood loss and prolonged operative time. Routine preoperative pelvic computed tomography (CT) carries information about body composition that is not currently exploited for risk stratification. We tested whether (i) CT-defined pelvic sarcopenia is associated with lower preoperative haemoglobin and (ii) preoperative subcutaneous fat cross-sectional area (CSA) is independently associated with operative time, after adjustment for surgical approach, age, fracture complexity and sarcopenia status. : In this single-centre retrospective cohort study, 48 adults (37 men, 11 women; mean age 40.2 ± 16.5 years) who underwent open reduction and internal fixation (ORIF) for unilateral acetabular fractures between 2016 and 2024 were included. Pelvic muscle and subcutaneous fat CSAs were measured on the contralateral side of preoperative CT images using ImageJ. Sarcopenia was defined as an internal, cohort-relative classification based on the sex-specific bottom tertile of psoas CSA. Normality was assessed by Shapiro-Wilk testing; Pearson or Spearman correlation was used accordingly, and the 36 pairwise correlations were controlled with the Benjamini-Hochberg false-discovery-rate procedure. The multivariable model used ordinary least squares regression with heteroscedasticity-consistent (HC3) standard errors and a median quantile-regression robustness check. : Sarcopenic patients (n = 17) had significantly lower preoperative haemoglobin (12.63 ± 1.24 vs. 14.00 ± 1.53 g/dL; = 0.002; Cohen's d = 0.96). The absolute perioperative haemoglobin drop was numerically smaller in the sarcopenic group (ΔHb 1.64 ± 0.91 vs. 2.46 ± 1.87 g/dL) but did not reach statistical significance ( = 0.079); estimated blood loss ( = 0.258) and transfusion requirement ( = 0.567) did not differ between groups. Pelvic muscle CSAs correlated positively with preoperative haemoglobin (all q < 0.05 after Benjamini-Hochberg correction). In the multivariable model (F[6, 41] = 3.71, = 0.005; adjusted R = 0.26; all variance inflation factors 1.06-1.26), subcutaneous fat CSA (B = +0.25 min/cm, = 0.004) and the modified Stoppa approach (vs. Kocher-Langenbeck; +65 min, = 0.001) were independently associated with operative time. : In this exploratory retrospective cohort, routine preoperative pelvic CT contained two body-composition signals that may warrant prospective evaluation: pelvic sarcopenia, which was associated with lower baseline haemoglobin, and subcutaneous adiposity, which was associated with longer operative time in the primary regression model. Both signals require confirmation-the sarcopenia-bleeding relationship was not statistically significant, and the subcutaneous fat association was attenuated under robust inference. These findings are hypothesis-generating; prospective multicentre validation with height-normalised sarcopenia thresholds and body mass index is required before clinical implementation.
Coronary Flow Reserve in Adults: Pathophysiology, Assessment Modalities, Clinical Applications, and Prognostic Significance.
Katogiannis K, Efird JT, Dziewierz A … +2 more , Epelde F, Ikonomidis I
Medicina (Kaunas) · 2026 May · PMID 42356048 · Full text
Coronary flow reserve (CFR) is a fundamental physiological index defined as the ratio of maximal coronary blood flow during hyperemia to resting flow. It provides an integrated assessment of the entire coronary circulati...
Coronary flow reserve (CFR) is a fundamental physiological index defined as the ratio of maximal coronary blood flow during hyperemia to resting flow. It provides an integrated assessment of the entire coronary circulation, from epicardial arteries to the microvasculature. Non-invasive assessment, particularly with transthoracic Doppler echocardiography (TTDE), is valuable in clinical practice for evaluating the functional impact of moderate obstructive lesions and determining the status of coronary microcirculation. Impairment of coronary microcirculation, detected by reduced CFR, is present in diverse conditions such as Tako-Tsubo cardiomyopathy, cardiac syndrome X, hypertension, and slow coronary flow. CFR also serves as a non-invasive tool to examine the effects of various interventions. CFR can be assessed invasively using Doppler guidewire or thermodilution techniques and non-invasively using transthoracic Doppler echocardiography, PET, CMR, CT perfusion, and dynamic SPECT. Lower CFR is observed with advancing age, in females, and in individuals of African descent. An impaired CFR is a powerful, independent predictor of major adverse cardiovascular events (MACEs) across a wide spectrum of diseases, including stable obstructive coronary artery disease (CAD), ischemic syndromes with no obstructive coronary arteries (INOCAs), heart failure, cardiomyopathies, and systemic diseases like diabetes and chronic kidney disease. Beyond risk stratification, CFR is used to guide therapeutic decisions, including revascularization strategies and tailoring of pharmacological interventions. The integration of CFR assessment into clinical practice, supported by recent guideline recommendations, represents a shift towards personalized, physiology-based cardiovascular care.
The Association Between the STOP-Bang Score and the Integrated Pulmonary Index in Patients Undergoing Endobronchial Ultrasound with Sedation: The STOP OSA-IPI Cohort Study.
Ozden Sertcelik U, Turker M, Sertcelik A … +6 more , Parlak ES, Hezer H, Gungor K, Temizer M, Yagar S, Karalezli A
Medicina (Kaunas) · 2026 May · PMID 42356047 · Full text
: Obstructive sleep apnea (OSA) is a prevalent condition associated with increased perioperative risks. Endobronchial ultrasound (EBUS), a diagnostic and staging procedure requiring deep sedation, may pose additional ris...
: Obstructive sleep apnea (OSA) is a prevalent condition associated with increased perioperative risks. Endobronchial ultrasound (EBUS), a diagnostic and staging procedure requiring deep sedation, may pose additional risks for patients at high risk of OSA. The Integrated Pulmonary Index (IPI), derived from capnography and vital signs, offers a single numerical value reflecting respiratory status. This study aimed to assess the association between high OSA risk and adverse events using the IPI during EBUS under sedation. : This prospective cohort study included 65 patients undergoing EBUS with sedation between December 2024 and April 2025 at a tertiary referral center. STOP-Bang questionnaire scores were used to stratify patients into high- (≥3) and low-risk (<3) OSA groups. During the procedure, IPI, oxygen saturation, end-tidal carbon dioxide, respiratory rate, and hemodynamic parameters were recorded at multiple time points. Hypoxemia, hypoventilation, and apnea were defined using standard thresholds. Logistic regression and Generalized Linear Mixed Models (GLMM) were applied to examine associations between OSA risk and respiratory outcomes. : Forty-three patients (66.2%) were classified as high risk for OSA. Patients with high STOP-Bang scores were older and had higher BMI, comorbidity rates, and ASA scores (all < 0.05). IPI values were lowest between 5 and 10 min, accompanied by more frequent interventions. Logistic regression showed no significant association between STOP-Bang scores and low IPI or hypoxemia. GLMM analysis also indicated no significant association between high OSA risk and low IPI (OR = 1.02; 95% CI = 0.36-2.86; = 0.974). Hypoxemia was nearly threefold higher in high-risk patients, though not statistically significant ( = 0.080). : Although no statistically significant association was identified between high OSA risk and adverse respiratory events, GLMM analyses revealed that patients with high STOP-Bang scores demonstrated approximately three times higher odds of developing hypoxemia (OR = 2.76; 95% CI = 0.99-7.66; = 0.052), a result that approached statistical significance. The present findings do not support the routine use of IPI-based monitoring in this setting, and further adequately powered studies are warranted. The early procedural period (5-10 min) is critical for hypoxemia and respiratory compromise.
Transcultural Adaptation and Validation to Spanish of the POQL Instrument in Children Aged 6 to 12 Years.
De La Peña Lobato C, Cuevas-Gonzalez JC, Cuevas-González MV … +5 more , García-Calderon AG, Espinosa-Cristóbal LF, Reyes-López SY, Tovar-Carrillo KL, Maya-García IA
Medicina (Kaunas) · 2026 May · PMID 42356046 · Full text
: Oral health is an important component of overall health, including in children, since dental caries is the most frequent oral health condition in this demographic. It affects children's daily performance and can lead t...
: Oral health is an important component of overall health, including in children, since dental caries is the most frequent oral health condition in this demographic. It affects children's daily performance and can lead to complications ranging from moderate discomfort to highly disabling problems, which are reflected in their quality of life. Validating instruments that provide reliable information to measure how oral health impacts children's quality of life will help prioritize the management of these problems through personalized treatments. The aim of this study was to perform transcultural adaptation and Spanish validation of a POQL instrument in children aged 6 to 12 years who attended the Pediatric Dentistry Clinic at the Universidad Autónoma de Ciudad Juárez (UACJ), and to establish an association between the presence of carious lesions and the quality of life of children. : We conducted a validation study involving a sample of 379 children aged 6 to 12 years who were attending the Pediatric Dentistry Clinic at the Universidad Autónoma de Ciudad Juárez. The instrument, adapted into Spanish, was applied to measure oral health-related quality of life, and the clinical diagnosis of caries was established using the ICDAS II system. : The mean age of the children was 8.51 years ± 1.64; 50.4% were boys and 49.6% girls. A total of 45.9% of the children presented caries with ICDAS II codes 5 and 6, corresponding to a severe stage with advanced tooth destruction, and 52% of the children reported their perception of their oral health-related quality of life as good. In the bivariate statistical analysis, the chi-square test showed no relationship between moderate and severe ICDAS II stages and the children's perception of their quality of life, resulting in a very low Spearman correlation. : The findings suggest that this instrument may represent a reliable and valid tool for use in children aged 6 to 12 years. The observed association between different degrees of carious lesions and children's quality of life may reflect the close relationship between oral health and important psychosocial domains, including physical, emotional, and social development, which constitute the core dimensions evaluated by the POQL instrument.
Obstetric Outcomes Among Underage Mothers: Age-Stratified Analysis from a Romanian Hospital-Based Cohort.
Sandor FM, Petre I, Petre I … +7 more , Buleu F, Precup CV, Furau R, Buleu T, Ardelean MI, Loichita A, Furau CG
Medicina (Kaunas) · 2026 May · PMID 42356045 · Full text
: Adolescent pregnancy is traditionally associated with increased obstetric risk, particularly among very young adolescents. Romania continues to report one of the highest adolescent birth rates in the European Union, ye...
: Adolescent pregnancy is traditionally associated with increased obstetric risk, particularly among very young adolescents. Romania continues to report one of the highest adolescent birth rates in the European Union, yet age-stratified clinical data on obstetric outcomes among minors remain limited. This study aimed to evaluate maternal and intrapartum outcomes among underage mothers (<18 years), stratified by age (<15, 15-16, and 17 years), and to identify predictors of adverse obstetric outcomes. : We conducted a retrospective cohort study of all live births and stillbirths among mothers aged 12-17 years recorded between 2020 and 2024 at a secondary maternity hospital in Romania. Data were extracted from standardized obstetric and neonatal records. Primary outcomes included preterm birth (<37 weeks), cesarean delivery, and intrapartum complications. Group comparisons were performed using non-parametric tests and the χ test. Multivariable logistic regression models were used to assess independent associations between maternal age and obstetric outcomes. : The cohort comprised 763 adolescent mothers aged 12-17 years. No significant differences were observed across age groups in gestational age at birth, preterm birth rate, fetal presentation, or mode of delivery. In multivariable analyses, younger maternal age was not independently associated with preterm birth (adjusted odds ratios [aORs] 0.87-1.21) or cesarean delivery (aORs 0.74-1.08). Obstetric factors, such as non-cephalic presentation and characteristics of membrane rupture, were the main predictors of adverse outcomes. Temporal analyses demonstrated stable outcome patterns across the study period, with no significant interaction between maternal age and year of delivery. : In this tertiary-care cohort, very young maternal age (<15 years) was not associated with poorer obstetric outcomes compared with older adolescents. These findings suggest that standardized antenatal surveillance and intrapartum management may mitigate age-related obstetric risk among underage mothers. Further population-based studies are warranted to contextualize these results within broader healthcare access and social determinants of adolescent pregnancy. Cesarean section rates were high across all groups (~50%), with no significant differences by maternal age.
Immunosuppressive Tumor Microenvironment Signatures Predict Early Progression in NSCLC Patients Receiving Immune Checkpoint Inhibitors: A Transcriptomic and Immune Deconvolution Analysis of GSE135222.
Kodaz H, Elpen Kodaz Ç, Öztürk G … +1 more , Beypınar İ
Medicina (Kaunas) · 2026 May · PMID 42356044 · Full text
Early progression (PFS < 90 days) in NSCLC patients undergoing ICI treatment constitutes a significant clinical challenge. Although predictive biomarkers have been extensively investigated, specific transcriptomic and im...
Early progression (PFS < 90 days) in NSCLC patients undergoing ICI treatment constitutes a significant clinical challenge. Although predictive biomarkers have been extensively investigated, specific transcriptomic and immune microenvironment characteristics contributing to early progression remain inadequately characterized. We analyzed RNA-seq data from 27 NSCLC patients receiving anti-PD-1/PD-L1 therapy (GSE135222). Patients were categorized as Early Progression (PFS < 90 days; = 17) or Clinical Benefit (PFS ≥ 90 days; = 10). GSEA was performed with Hallmark and C7 ImmuneSigDB gene sets. Immune cell deconvolution was performed using EPIC. An 87-gene immunosuppressive risk score was derived from TGF-β, WNT/β-catenin, and EMT pathway leading-edge genes. GSEA identified 17 significantly enriched Hallmark pathways in early progressors, predominantly immunosuppressive (TGF-β, WNT/β-catenin) and oncogenic (MYC targets, E2F targets, G2M checkpoint) programs. C7 ImmuneSigDB analysis revealed 131 enriched immune signatures including CD8 T cell dysfunction, Treg activation, and M2 macrophage polarization. An 87-gene immunosuppressive risk score demonstrated a significant negative correlation with PFS (Spearman ρ = -0.516, = 0.006) and a trend toward poorer survival outcomes (HR = 2.12, = 0.093). In NSCLC patients receiving ICI, early disease progression is marked by simultaneous activation of TGF-β/WNT-mediated immunosuppressive pathways, oncogenic signaling, and CD8 T cell dysfunction. The 87-gene immunosuppressive risk score demonstrates a statistically significant negative correlation with PFS (Spearman ρ = -0.516, = 0.006); however, given the small sample size ( = 27) and absence of external validation, these findings should be interpreted as exploratory and hypothesis-generating, warranting prospective validation in independent cohorts.
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