Search Results (5,953)

Background/Objectives: Nutrition in inflammatory bowel disease (IBD) is a central concern for both patients and healthcare professionals, as it plays a key role not only in daily life but also in disease outcomes. The Mediterranean diet represents a healthy dietary pattern that may be suitable in many cases of IBD. Among other factors, health literacy (HL) influences patients’ dietary habits and their ability to follow nutritional recommendations. The aim of this study was to assess HL and dietary patterns in adolescent and pediatric patients with IBD. Methods: We conducted a cross-sectional study that included a total of 99 participants (36 patients with IBD receiving biological therapy recruited from a single center and 63 healthy controls). HL was assessed using the Newest Vital Sign (NVS) tool regardless of disease activity, whereas diet quality was evaluated by the KIDMED questionnaire exclusively in patients in remission. Linear regression models were used to evaluate the effects of sex, age and group (patients vs. control) on NVS and KIDMED scores. Results: Most participants (87.9%) had an adequate HL, which was positively associated with age. While the most harmful dietary habits (such as frequent fast-food consumption) were largely absent in the patient group, KIDMED scores indicated an overall poor diet quality. Conclusions: Although HL increased with age and was generally adequate in this cohort, it did not translate into healthier dietary patterns as measured by the KIDMED score. Further research with larger, more diverse samples is needed to clarify the relationship between HL and dietary adherence in adolescents with IBD. Full article

Background/Objectives: Fatigue and cognitive impairment are common issues for People with Multiple Sclerosis (PwMS), affecting over 80% and 40–65%, respectively. The relationship between these two debilitating conditions is complex, with cognitive deficits exacerbating fatigue and vice versa. This study investigates the effects of a multimodal intervention combining cognitive rehabilitation and neuromodulation to alleviate fatigue and enhance cognitive performance in PwMS. Methods: The research employed multiple baselines across the subjects in a Single-Case Experimental Design (mbSCED) with a cohort of three PwMS diagnosed with Relapsing–Remitting MS. The intervention protocol consisted of a baseline phase followed by a four-week treatment involving transcranial direct current stimulation (tDCS) and cognitive training using RehaCom^® software (version 6.9.0). Fatigue levels were measured using the modified Fatigue Impact Scale (mFIS), while cognitive performance was evaluated through standardized neuropsychological assessments. Results: The multimodal protocol exhibited high feasibility and acceptability, with no dropouts. Individual responsiveness outcomes varied, with two PwMS showing significant decreases in fatigue and improvements in cognitive performance, particularly in the trained domains. Their motor performance and quality of life also improved, suggesting that the treatment had indirect beneficial effects. Conclusions: This study provides preliminary evidence for the potential benefits of integrating neuromodulation and cognitive rehabilitation as a personalized therapeutic strategy for managing fatigue and cognitive impairments in MS. Further research is needed to delineate the specific contributions of each intervention component and establish standardized protocols for clinical implementation. The insights gained may lead to more effective, tailored treatment options for PwMS. Full article

Background: Implantation of modularly built-up stems with a tapered and fluted design is currently state of the art in revision total hip arthroplasty (RTHA). Nevertheless, implant-specific major complications like breakage of taper junctions as well as periprosthetic fractures (PPFs) may lead to failure of reconstruction during follow-up. Methods: A cohort of 117 cases receiving femoral RTHA by a modular stem was investigated retrospectively with a mean follow-up of 5.7 (0.5–13.7) years. Cumulative risk and potential factors affecting the occurrence of PPFs were calculated with the Kaplan–Meier method. In addition, cases were presented to discuss operative treatment options. Results: A cumulative risk of PPF of 12.1% (95% CI: 0–24.6%) was calculated at 13.7 years. Female patients had significantly higher risk compared to male patients (0% after 13.5 years for male patients vs. 20.8% (95% CI: 0.5–41.2%) after 13.7 years for female patients; log-rank p = 0.0438) as all five patients sustaining a PPF during follow-up were women. Four fractures were treated by open reduction and internal fixation. Non-union and collapse of the fracture occurred in one patient after closed reduction and internal fixation. Conclusions: Postoperative PPF after femoral revision with a modular stem has shown to be a frequent complication within this mid-term follow-up. Female patients were at a significantly higher risk in this aged cohort, indicating osteoporosis as a risk factor. The surgical treatment of PPF with an integrated long-stemmed prosthesis is challenging and thorough considerations of adequate operative treatment of PPFs are strongly advised in order to limit complication rates. Full article

Aged-care services are in crisis through a combination of rising demand and increasing costs. Quality of care is often reported to be insufficient. Medical science has increased lifespans but the overmedicalisation of aged care may affect the financial sustainability and quality of care. Person-centred care was developed as a solution and is generally interpreted as being concerned with consumer choice. This study presents a human rights-based approach to a code of conduct for aged-care consumers and workers to ensure autonomy and participation in aged-care communities, which are fundamental to person-centred care. A test–retest cohort study was used to investigate the impact of a training module about a human rights-based code of conduct on the perspectives of new aged-care workers (n = 11) on a case scenario involving conflicting care priorities. Qualitative content analysis was used to categorise and count the participants’ responses. The analysis found that prior to training the majority of participants were focused on a medical and risk reduction model of care. After the training participants had a more expansive understanding of care needs and recognised the importance of client empowerment to enable clients to participate in decisions affecting their care. The results support the implementation of a human rights-based approach to worker training and client care; such an approach is consistent with person-centred care. Full article

Background: Hemiplegic migraine (HM) is a rare and severe subtype of migraine with a complex genetic basis. Although pathogenic variants in CACNA1A, ATP1A2, and SCN1A explain some familial cases, a significant proportion of patients remain genetically undiagnosed. Increasing evidence points to an overlap between migraine and cerebral small vessel disease (SVD), implicating vascular dysfunction in HM pathophysiology. Objective: This study aimed to identify rare or novel variants in genes associated with SVD in a cohort of patients clinically diagnosed with HM who tested negative for known familial hemiplegic migraine (FHM) pathogenic variants. Methods: We conducted a case-control association analysis of whole exome sequencing (WES) data from 184 unrelated HM patients. A targeted panel of 34 SVD-related genes was assessed. Variants were prioritised based on rarity (MAF ≤ 0.05), location (exonic/splice site), and predicted pathogenicity using in silico tools. Statistical comparisons to gnomAD’s Non-Finnish European population were made using chi-square tests. Results: Significant variants were identified in several SVD-related genes, including LRP1 (p.Thr4077Arg), COL4A1 (p.Pro54Leu), COL4A2 (p.Glu1123Gly), and TGFBR2 (p.Met148Leu and p.Ala51Pro). The LRP1 variant showed the strongest association (p < 0.001). All key variants demonstrated pathogenicity predictions in multiple computational models, implicating them in vascular dysfunction relevant to migraine mechanisms. Conclusions: This study provides new insights into the genetic architecture of hemiplegic migraine, identifying rare and potentially deleterious variants in SVD-related genes. These findings support the hypothesis that vascular and cellular maintenance pathways contribute to migraine susceptibility and may offer new targets for diagnosis and therapy. Full article

The aim of this study was to evaluate the relationship between visual functions and road traffic accidents (RTAs) by meta-analysis of observational studies. The analysis included all drivers of motor vehicles, regardless of age, and those using private or public transport. Self-reported visual outcomes were excluded. The risk of RTA in patients with reduced visual acuity was observed in commercial drivers in cross-sectional studies (PR 1.54, 95% CI 1.26–1.88), but not in private drivers in cohort (RR 1.04, 95% CI 0.74–1.46) or case–control studies (OR 1.04, 95% CI 0.78–1.40). A non-statistically significant association between colour vision defects and RTA was observed in cross-sectional studies (PR 1.50, 95% CI 0.91–2.45). No evidence was found for an increased risk of accidents in people with reduced stereopsis. In older adults with abnormal contrast sensitivity, a weak risk of RTA was observed in cohort studies. Evidence from low-quality cross-sectional studies suggests an increased risk of RTAs among commercial drivers with reduced visual acuity. The few case–control and cohort studies identified did not show an association between accident occurrence and visual function. Attention needs to be paid to this issue to facilitate the conduct of high-quality research that can support the development of road safety policies. Full article

Background: The profile of germline genetic variants among colorectal cancer patients in Panama has not yet been explored. Methods: We recruited 95 patients with colorectal cancer in an Oncology Reference Hospital Unit in the Azuero region of central Panama, which exhibited the highest prevalence of colorectal cancer in Panama. DNA analysis was performed with a panel of 113 genes with germline mutations for cancer (TruSight^® Cancer Sequencing Panel from Illumina, San Diego, CA, USA). Results: Among the 95 cases, 10 pathogenic/likely pathogenic variants (P/LP) were identified in the MUTYH, TP53, CHEK2, PALB2, ATM, and BARD1 genes, representing 10% of the total. The variant 1103G>A (p.Gly368Asp) in MUTYH was the most prevalent. The variant at c.1675_1676delCAinsTG (p.Gln559Ter) in PALB2 is new and is reported for the first time in this study. Variants were most frequently detected in the MUTYH and CHEK2 genes, affecting four and two patients, respectively. Notably, none of the 95 Panamanian patients in the initial colorectal cancer cohort had mutations in mismatch repair (MMR) genes. These genes are among the most frequently mutated in other cohorts around the world. Conclusions: The atypical profile of germline genetic variants in this population may be related to the unique characteristics of the Azuero population in Panama’s central region. This profile may partly explain the high prevalence of colorectal cancer among its inhabitants. Full article

Background/Objectives: Laboratory tests conducted in community settings are occasionally repeated within hours of presentation to pediatric emergency departments (PEDs). Reducing unnecessary repetitions can ease child discomfort and alleviate the healthcare burden without compromising the diagnostic process or quality of care. The aim of this study was to develop a decision tree (DT) model to guide physicians in minimizing unnecessary repeat blood tests in PEDs. The minimal decision tree (MDT) algorithm was selected for its interpretability and capacity to generate optimally pruned classification trees. Methods: Children aged 3 months to 18 years with community-based complete blood count (CBC), electrolyte (ELE), and C-reactive protein (CRP) measurements obtained between 2016 and 2023 were included. Repeat tests performed in the pediatric emergency department within 12 h were evaluated by comparing paired measurements, with tests considered justified when values transitioned from normal to abnormal ranges or changed by ≥20%. Additionally, sensitivity analyses were conducted for absolute change thresholds of 10% and 30% and for repeat intervals of 6, 18, and 24 h. Results: Among 7813 children visits in this study, 6044, 1941, and 2771 underwent repeated CBC, ELE, and CRP tests, respectively. The mean ages of patients undergoing CRP, ELE, and CBC testing were 6.33 ± 5.38, 7.91 ± 5.71, and 5.08 ± 5.28 years, respectively. The majority were of middle socio-economic class, with 66.61–71.24% living in urban areas. Pain was the predominant presented complaint (83.69–85.99%), and in most cases (83.69–85.99%), the examination was conducted by a pediatrician. The DT model was developed and evaluated on training and validation cohorts, and it demonstrated high accuracy in predicting the need for repeat CBC and ELE tests but not CRP. Performance of the DT model significantly exceeded that of the logistic regression model. Conclusions: The data-driven guide derived from the DT model provides clinicians with a practical, interpretable tool to minimize unnecessary repeat laboratory testing, thereby enhancing patient care and optimizing healthcare resource utilization. Full article

Rationale: The ProMisE molecular classification improves risk assessment in endometrial cancer (EC), but 3–11% of cases exhibit overlapping molecular features, complicating clinical decisions. We analyzed the prevalence and clinicopathological profiles of multiple-classifier ECs in a large Polish cohort. Methods: In this retrospective study (2022–2025), 1075 ECs from four institutions were classified by MMR and p53 immunohistochemistry and POLE exon sequencing. Tumors showing ≥2 molecular features (e.g., MMRd–p53abn, POLEmut–p53abn) were categorized as multiple-classifier ECs. Results: Multiple-classifier ECs comprised 6.9% (74/1075), with MMRd–p53abn (3.9%) being most common. These tumors exhibited more aggressive features vs. MMRd-only: G3 (28.57% vs. 11.79%, p = 0.002), non-endometrioid histology (11.9% vs. 2.85%, p = 0.018), and high–intermediate/high-risk (HIR/HR) groups (59.52% vs. 37.80%, p = 0.001). POLEmut–p53abn (N = 4) and POLEmut–MMRd–p53abn (N = 10) tumors showed advanced stages (75% and 40% FIGO III–IV, respectively), in contrast to classical POLEmut tumors (6.7% FIGO III–IV), and higher rates of nodal metastases. Conclusions: Co-occurrence of molecular classifiers, including triple-classifier tumors, correlates with more adverse profiles and may undermine current stratification paradigms. This study emphasizes the need to further investigate and refine molecular risk models to account for overlapping profiles. Full article

Background/Objectives: Genetic testing is important for diagnosing inherited retinal diseases (IRDs), but further evidence is needed on the utility of singleton genetic testing in an Australian cohort. Methods: A consecutive series of individuals with clinically diagnosed IRDs without prior genetic testing underwent commercial panel-based sequencing (Invitae or Blueprint Genetics), clinical assessment, and multimodal imaging. Retinal images were graded using the Human Phenotype Ontology terms. Binary logistic regression was used to evaluate clinical predictors of a positive molecular diagnosis. Results: Among 140 participants (mean age 49 ± 19 years), genetic testing was undertaken, on average, 23 ± 17 years after the initial clinical IRD diagnosis. Of the 60% who received a probable molecular diagnosis, 40% require further phase testing, highlighting the limitations of singleton genetic testing. USH2A, ABCA4, and RPGR were the most common encountered genes; 67% of the probably solved participants had causative genes with targeted experimental treatments in ongoing human clinical trials. Symptom onset before the age of 30 (OR = 3.06 [95% CI: 1.34–7.18]) and a positive IRD family history (OR = 2.87 [95% CI: 1.27–6.78]) were each associated with higher odds of receiving a molecular diagnosis. Diagnostic rates were comparable across retinal imaging phenotypes (atrophy and autofluorescence patterns in widespread IRD, and the extent of dystrophy in macular IRDs). Conclusions: In an Australian IRD population without prior genetic testing, commercial panels yielded higher diagnostic rates in individuals with IRD onset before the age of 30 and those with an IRD family history. Further research is needed to understand the genetic basis of IRDs, especially isolated and late-onset cases, to improve diagnosis and access to emerging therapies. Full article

Background/Objectives: Erysipelas is an acute bacterial skin infection, particularly affecting the lower limbs, with a tendency to recur. Despite its clinical importance, data on demographic and epidemiological risk factors, as well as factors influencing hospitalization, remain limited. This study aimed to analyze the epidemiological and clinical characteristics of patients hospitalized with primary and recurrent erysipelas, focusing on risk factors contributing to disease onset, recurrence, and prolonged hospitalization. Methods: A retrospective single-center analysis was conducted on 239 patients hospitalized for erysipelas at the Department of Dermatology, Pediatric Dermatology, and Oncology at the Medical University of Lodz. Data collected included demographics, lesion location, laboratory markers, comorbidities, and hospitalization outcomes. Statistical analyses were performed to assess associations between risk factors, disease recurrence, and hospitalization duration. Results: The majority of erysipelas cases (85.4%) involved the lower limbs, with a higher prevalence in men. Upper extremities were mostly affected in women, especially those who had undergone breast cancer surgery. Recurrent erysipelas accounted for 75.7% of cases. Most patients (89.1%) had at least one comorbidity, with hypertension, diabetes type 2 (DM2), and obesity being the most common. Higher white blood cell (WBC) count, obesity, atrial fibrillation (AF), and the need for enoxaparin administration were independently associated with prolonged hospitalization. Dyslipidemia was significantly associated with erysipelas recurrence (p < 0.05). Conclusions: Both primary and recurrent erysipelas are associated with specific risk factors. Recurrent erysipelas may be linked to components of metabolic syndrome, particularly obesity and dyslipidemia, which emerged as a significant risk factor in this study. Hospitalization length may be prolonged by inflammation markers (WBC and CRP) and comorbidities such as AF, obesity, or the need for enoxaparin in patients with elevated thrombosis risk. Further multicenter studies with larger cohorts are needed to assess the impact of demographics, biomarkers, metabolic disorders, and treatment strategies on erysipelas recurrence and outcomes. Awareness of these risk factors is essential for effective prevention, management, and recurrence reduction. Full article

Prophylactic gastropexy is increasingly recommended in large-breed dogs predisposed to gastric dilatation-volvulus (GDV), particularly when combined with other elective procedures such as ovariectomy to reduce surgical trauma and anesthesia exposure. This prospective clinical study aimed to evaluate the feasibility, safety, and outcomes of a combined laparoscopic ovariectomy (LOVE) and total laparoscopic gastropexy with absorbable fixation straps (TLG-SS) using a standardized three-port minimally invasive approach. Six female dogs of GDV-prone breeds underwent the combined procedure. Surgical times, intraoperative and postoperative complications, and follow-up outcomes were recorded. The mean total operative time was 29.0 ± 3.52 min, with ovariectomy and gastropexy requiring 7.5 ± 1.38 and 9.33 ± 2.58 min, respectively. No major intraoperative complications occurred, and no conversion to open surgery was necessary. Postoperative recovery was uneventful in all cases, with only one minor portal site reaction observed. Owner satisfaction was excellent. The use of absorbable fixation straps simplified the gastropexy procedure and reduced operative time compared to other laparoscopic techniques. These findings suggest that the combined LOVE and TLG-SS procedure is technically feasible and well-tolerated in a small cohort of large-breed dogs, supporting its potential integration into clinical protocols pending further validation. Full article

Background and Aims: Sodium-glucose cotransporter-2 (SGLT2) inhibitors have shown promise in metabolic dysfunction-associated steatotic liver disease (MASLD). This large real-world study aimed to evaluate the effects of SGLT2 inhibitors on MASLD patients’ clinical outcomes and liver-related complications over extended follow-up. Patients and Method: Data were sourced from TriNetX, a global health research platform with de-identified electronic medical records spanning 135 million patients across 112 healthcare organizations worldwide. We included MASLD adults diagnosed according to ICD9/10 criteria. Following propensity score matching based on 34 variables (demographics, comorbidities, laboratory tests and medication history), SGLT2 inhibitor-treated (n = 19,922) patients were compared with non-SGLT2 inhibitor (n = 19,922) cases. Exclusion criteria included baseline improved alanine aminotransferase (ALT) and alkaline phosphatase (ALP) levels > 4 upper normal limit (UNL), baseline advanced liver disease, liver transplant and cancer, past anticoagulation and non-MASLD etiologies. Assessed outcomes included survival, biochemical, hematologic, AFP, metabolic and cardiovascular parameters, progression to advanced liver disease (ALD), synthetic function, and metabolic markers over 1, 5, and 10 years. Results: Following matching, both cohorts were well-balanced across baseline characteristics. After one year, the SGLT2 inhibitor group demonstrated significantly reduced BMI (33.2 ± 6.2 vs. 34.1 ± 6.5 kg/m², p < 0.001), improved ALT (40.3 ± 31.5 vs. 48.3 ± 41.2 U/L, p < 0.001), and better glycemic control (HbA1c 7.35 ± 1.51% vs. 7.93 ± 1.72%, p < 0.001). The SGLT2 inhibitor group showed higher 10-year survival rates (95.00% vs. 88.69%, p < 0.001), fewer cardiovascular events (10.19% vs. 11.80%, p < 0.001), and markedly reduced progression to advanced liver disease (6.90% vs. 14.15%, p < 0.001). These benefits were consistent across clinical, laboratory, and medication-defined ALD categories. Notably, rates of hepatic decompensation events were significantly lower with SGLT2 inhibitor therapy. Conclusions: In this large real-world cohort, SGLT2 inhibitor use in MASLD patients was associated with significantly improved long-term survival, cardiovascular, and liver-related outcomes over 10 years of follow-up. These benefits likely result from combined metabolic improvements, anti-inflammatory effects, and direct hepatoprotective mechanisms. SGLT2 inhibitors represent a promising therapeutic strategy for improving outcomes in MASLD. Full article

Objective: To evaluate the outcomes of a modified infratemporal fossa approach (ITFA) that preserves the posterior external auditory canal (EAC) in patients with tumors in the infratemporal fossa and skull base, focusing on postoperative hearing and facial nerve function. Methods: This retrospective study included nine patients who underwent ITFA with posterior EAC preservation for tumor removal while minimizing facial nerve rerouting. All surgeries were performed by a single surgeon. Preoperative and postoperative hearing levels, facial nerve function, tumor characteristics, and surgical outcomes were analyzed. Air-bone gaps (ABG) were assessed using pure tone audiometry, and facial nerve function was assessed using the House–Brackmann grading system. Results: The cohort consisted of eight female patients and one male patient, with a mean tumor size of 3.0 cm. Surgical outcomes were promising, with no statistically significant increase in postoperative ABG and well-preserved facial nerve function. Only one patient developed postoperative grade II facial palsy. A residual tumor was identified in one case with extensive meningioma, which has remained stable, and no recurrence or regrowth was noted during the follow-up period (mean: 3.7 years). The modified approach minimized complications related to conductive hearing loss and facial nerve dysfunction. Conclusions: The modified ITFA with posterior EAC preservation provides a promising alternative to conventional ITFA for managing deep-seated tumors. It preserves both hearing and facial nerve function while ensuring adequate tumor resection. Full article

Background/Objectives: The implementation of polygenic scores (PGSs) and multifactorial risk assessments (MFRAs) has the potential to enhance breast cancer risk stratification, particularly in carriers of moderate-penetrance pathogenic variants (PVs), whose risk profiles often remain unclear if testing is limited to monogenic risk factors. Methods: To enhance breast cancer risk stratification, we included the BCAC313 polygenic score, together with MFRA, for carriers of moderate-penetrance pathogenic variants (PVs) during routine diagnostics and assessed its effect on the classification of patients’ risk categories in a real-world cohort at our center in its first year of implementation. Seventeen carriers with PVs in moderate-risk breast cancer genes were included in this study. Thirteen of them qualified for analysis for a full MFRA, including PGS, according to ancestry estimation and clinical criteria. The MFRA was performed using the CanRisk tool, which incorporates clinical, lifestyle, familial, and genetic data, including the BCAC313 score. Results: PGS z-scores were significantly higher in breast cancer patients compared to the unaffected control cohort (p = 0.016). The MFRA, including PGS, increased risk estimates for contralateral breast cancer in seven of eight patients with breast cancer and for primary breast cancer in three of five healthy carriers, compared to the risk conferred by the MFRA and moderate-penetrance pathogenic variant alone. Risk estimates varied widely, demonstrating the value of MFRA in personalized care. In five cases, one with a CHEK2-PV and four with an ATM-PV, the modified risk assessment contributed to the surgical decision for a prophylactic mastectomy. Conclusions: The MFRA, including PGS, provides the clinically meaningful refinement of breast cancer risk estimates in individuals with moderate-risk PVs. Personalized risk predictions can inform clinical management and support decision-making, which highlights the utility of this approach in clinical practice. Full article