Category: Statistics

JAMA Netw Open. 2025 Dec 1;8(12):e2549730. doi: 10.1001/jamanetworkopen.2025.49730.

ABSTRACT

IMPORTANCE: There is clear evidence that deleterious germline variants in CHEK2 increase risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers.

OBJECTIVE: To quantify the prevalence of as well as cancer risk and survival associated with CHEK2 germline pathogenic and likely pathogenic variants using genomic ascertainment.

DESIGN, SETTING, AND PARTICIPANTS: This case-control study used 2 electronic health record-linked and exome-sequenced biobanks: UK Biobank (n = 469 765) and Geisinger MyCode (adults only; n = 167 050). Variants were classified according to American College of Medical Genetics and Genomics and the Association for Molecular Pathology criteria. Cases were defined as individuals with heterozygous CHEK2, harboring pathogenic or likely pathogenic variants; controls as individuals with a benign or likely benign CHEK2 variation or wildtype CHEK2. Cancer registry (MyCode since approximately 1943; UK Biobank since approximately 1970) and demographic data were retrieved; to adjust for relatedness, association analysis was performed with SAIGE-GENE+ with Bonferroni correction.

MAIN OUTCOMES AND MEASURES: Prevalence of as well as cancer risk and survival in adults with CHEK2 germline variants.

RESULTS: Of 469 765 individuals in the UK Biobank, there were 3232 case participants (mean [SD] age, 70.8 [8.0] years; 3139 [97.1%] White; 1744 [54.0%] women); of 167 050 individuals with MyCode, there were 3153 case participants (mean [SD] age, 60.5 [17.8] years; 3123 [98.8%] White; 1935 [61.5%] women). In case participants in both MyCode and UKBB, there was a significant excess risk of all cancers (odds ratio [OR], 1.33 [95% CI, 1.18-1.49]; OR, 1.41 [95% CI, 1.26-1.59], respectively), breast (OR, 1.54 [95% CI, 1.18-2.00]; OR, 1.84 [95% CI, 1.49-2.27], respectively), prostate (OR, 1.62 [95% CI, 1.27-2.07]; OR, 1.78 [95% CI, 1.48-2.16], respectively), kidney (OR, 1.58 [95% CI, 1.03-2.41]; OR, 1.84 [95% CI, 1.22-2.77], respectively), and bladder (OR, 1.50 [95% CI, 1.01-2.23]; OR, 1.64 [95% CI, 1.17-2.31], respectively) cancers as well as lymphoid leukemia (OR, 2.08 [95% CI, 1.17-3.69]; OR, 2.21 [95% CI, 1.19-4.08], respectively). Compared with control participants, time to cancer in case participants was significantly shorter in both cohorts; no significant difference was observed between the age-dependent penetrance of truncating and missense variants for cancer in either cohort. Overall survival was significantly decreased in case participants in UK Biobank; however, the primary consequence was seen after 75 years. There was no statistical difference in survival in MyCode. There were no differences in survival between case participants with cancer and control participants with cancer.

CONCLUSIONS AND RELEVANCE: In this case-control study of genomic ascertainment of individuals with heterozygous CHEK2 pathogenic or likely pathogenic variants in 2 population-scale cohorts, there was a significant excess risk of breast, prostate, kidney, bladder, and lymphoid leukemia cancer. The conferred excess mortality and cancer risk was low (ORs <2). This has clinical implications for individuals ascertained this way (vs with a family history of cancer).

PMID:41396600 | DOI:10.1001/jamanetworkopen.2025.49730

Eur J Public Health. 2025 Dec 15:ckaf239. doi: 10.1093/eurpub/ckaf239. Online ahead of print.

ABSTRACT

BACKGROUND: Physician shortages threaten healthcare system sustainability across Europe. Retaining physicians is critical to maintaining service capacity and quality. Despite its importance, physician retention remains a pressing issue in Europe, including in Portugal, where the Portuguese National Health Service (NHS) continues to face significant retention challenges.

METHODS: We conducted a quantitative, observational, cross-sectional study to identify determinants of physician retention in Portugal. A validated survey was developed using a Nominal Group Technique and Delphi Panel with stakeholders. The questionnaire measured job satisfaction with Likert scales. A stratified sampling strategy ensured representation across Portugal’s five mainland health regions, yielding 1398 physicians. Data were collected via self-administered electronic questionnaires. Analyses included descriptive statistics, ANOVA, t-tests, and linear regression to assess predictors of retention.

RESULTS: Physicians with longer seniority reported higher intention to remain, with those over 10 years showing the strongest intention (mean = 3.72; SD = 1.05; p < .001). Fixed schedules were linked to higher intended retention than shift work (mean = 3.42 vs. 3.18; p = .015). Job satisfaction was the strongest predictor (β = .267; p < .001), followed by age (β = .222; p < .001), satisfaction with work characteristics (β = .125; p = .002), and career development (β = .097; p = .011). Satisfaction with human resources and work-life balance was not significant.

CONCLUSIONS: Physician retention is shaped by seniority, schedule stability, work environment, and career development. Policies fostering supportive environments, predictable schedules, and professional growth are needed to sustain the workforce, to European systems.

PMID:41396586 | DOI:10.1093/eurpub/ckaf239

J Palliat Care. 2025 Dec 15:8258597251406805. doi: 10.1177/08258597251406805. Online ahead of print.

ABSTRACT

ObjectiveCaregivers have a key role in the palliative care process. However, they need to cope with the challenges brought about by caregiving. Psychological resilience is an important concept for caregivers in coping with challenges. This study examined the relationship between psychological resilience and care burden among caregivers in palliative care settings.MethodsThis cross-sectional study was conducted with 120 caregivers in the palliative care clinic between December 2023 and May 2024 in Turkey. Data were collected using a personal information form, the Resilience Scale for Adults (RSA), and the Zarit Caregiver Burden Scale (ZCBS). Data were analyzed using descriptive statistics, Pearson’s correlation coefficient, and simple and multiple linear regression analyses.ResultsThe mean total RSA score was 123.93 ± 14.00, which was above average. The mean total ZCBS score was 40.08 ± 11.79, and 47.5% of the caregivers had moderate levels of care burden. A negative statistically significant correlation was found between mean RSA and ZCBS scores (P < .01). Psychological resilience alone was a significant predictor of care burden (R² = 0.096, P < .001). Psychological resilience, income status, and family/work/social roles and responsibilities were all statistically significant predictors of care burden (R² = 0.285, P = .000).ConclusionsThe results of this study revealed that psychological resilience is important in the care burden perceived by caregivers in palliative care settings. Therefore, it is important for health professionals to incorporate interventions aimed at enhancing caregivers’ psychological resilience into their programs.

PMID:41396583 | DOI:10.1177/08258597251406805

Intensive Care Med. 2025 Dec 15. doi: 10.1007/s00134-025-08248-7. Online ahead of print.

NO ABSTRACT

PMID:41396555 | DOI:10.1007/s00134-025-08248-7

J Back Musculoskelet Rehabil. 2025 Dec 15:10538127251406955. doi: 10.1177/10538127251406955. Online ahead of print.

ABSTRACT

BackgroundIndividuals with low back pain (LBP) exhibit altered diaphragm function and poor psychological health. Chronic maladaptation of diaphragm activity has been linked to impaired emotional and physical well-being; however, no study has directly examined whether self-reported disability contributes to diaphragm function in LBP.ObjectiveTo compare ultrasonographic measures of diaphragm function in the standing position between young male participants with and without LBP and examine the associations between patient-oriented measures of physical function and psychological status and diaphragm function in those with LBP.MethodsA cross-sectional comparative study was conducted involving 22 young males with LBP and 17 healthy controls. Six validated questionnaires assessed physical and psychological status. Ultrasonography quantified bilateral diaphragmatic contractility and right hemidiaphragm excursion in the standing position.ResultsParticipants with LBP exhibited significantly lower contractility in both hemidiaphragms than controls (p < 0.05). The strongest predictor of right hemidiaphragm contractility was the mental component summary of the Short Form-36 (R² = 0.356, p = 0.003). The combination of social life dysfunction and pain-related disorder domains in the Japanese Orthopaedic Association Back Pain Evaluation Questionnaire explained 25.0% of the variance in left hemidiaphragm contractility (R² = 0.250, p = 0.065). While the regression model of the left hemidiaphragm contractility approached statistical significance (p = 0.065), it did not meet our criterion alpha (0.05).ConclusionReduced diaphragm contractility in standing posture may be associated with poorer psychological health in young males with LBP. These findings suggest diaphragm dysfunction as a potential contributor to the multidimensional burden of LBP. Larger, prospective studies including females are warranted to clarify these associations.

PMID:41396527 | DOI:10.1177/10538127251406955

World J Urol. 2025 Dec 15;44(1):43. doi: 10.1007/s00345-025-06135-w.

ABSTRACT

PURPOSE: Individuals with neurogenic lower urinary tract dysfunction after spinal cord injury should undergo regular scintigraphy to assess renal function. However, renal scintigraphy entails radiation exposure and is not widely available. Consequently, reliable alternative diagnostic parameters are needed. We have, thus, investigated whether renal sonography and cystatin-C measurements are consistent with renal scintigraphy results in this population.

METHODS: Adult individuals with chronic spinal cord injury (duration ≥ 5 years) underwent renal sonography and cystatin-C measurement during routine consultation, followed by renal scintigraphy within six weeks. The correlation between renal sonographic parameters (arterial resistive index, renal parenchymal thickness, and kidney dimensions), serum cystatin-C, and scintigraphy clearance values was assessed using Pearson and Spearman’s rank correlation coefficients. Furthermore, the classification accuracy (for scintigraphy clearance ≤ 150 ml/min) of variables with statistically significant correlation coefficients was investigated.

RESULTS: Data of 8 women and 42 men (54 ± 14 years old; duration spinal cord injury 24.4 ± 14.6 years) were analyzed. There was a fair correlation between scintigraphy clearance and cystatin-C levels (r = -0.37, p = 0.013) as well as left renal resistive index (r = -0.44, p = 0.002). However, there were no correlations between scintigraphy clearance and renal parenchymal thickness (p > 0.45) as well as kidney dimensions (p > 0.13). Cystatin-C and left renal resistive index showed good classification performance (area under curve = 0.74/0.84, p < 0.00001).

CONCLUSION: Individuals with reduced renal function can be identified reliably using cystatin-C serum concentration and renal arterial resistance. These parameters may serve as additional diagnostic parameters to assess renal function and to determine whether scintigraphy examination is required.

CLINICAL TRIAL REGISTRATION: NCT04241666.

PMID:41396487 | DOI:10.1007/s00345-025-06135-w

Childs Nerv Syst. 2025 Dec 15;41(1):417. doi: 10.1007/s00381-025-07061-3.

ABSTRACT

INTRODUCTION: Co-existence of Dandy Walker malformation (DWM) and occipital encephalocele (OE) is extremely unique, and only a limited number of cases have been documented in literature. Their rarity poses distinct diagnostic and therapeutic challenges across the prenatal-postnatal continuum.

OBJECTIVES: To describe the correlation of these two diverse congenital disorders, and to perform a systematic review of the existing literature.

METHODOLOGY: Retrospective review of prospectively maintained database identified 5/128 DWM + OE patients (3.9%) managed between 2012 and 2024. Several parameters were noted and appropriate analysis was performed. Systematic literature review following PRISMA guidelines identified 79 cases for pooled comparison.

RESULTS: Mean age was 5.6 ± 2.41 months; male-to-female ratio 4:1. Four were first-order children, requiring NICU admission with all having delayed milestones. Two had significant microcephaly while one had macrocephaly. Giant sized OE was seen in four cases. On follow-up, two cases (40%) subsequently developed age-appropriate milestones. Systematic review confirmed significant statistical correlation between patients who underwent only repair vs patient who were shunted ± repair; the cases that were shunted fared better (p-value0.03).

CONCLUSION: VP/CP shunt is essential in surgical management leading to better prognosis as compared to repair alone. Giant size of OE/OM and associated anomalies may also dictate long-term outcomes. We affirmed that the pathophysiology resulting in hydrocephalus and OE/OM in DWM to be co-dependent. Our experience adds to this limited pool of data and our analysis of the largest studied number of cases in literature to date provides comprehensive insights into the clinical implications of this association.

CLINICAL TRIAL NUMBER: Not applicable.

PMID:41396485 | DOI:10.1007/s00381-025-07061-3

World J Urol. 2025 Dec 15;44(1):41. doi: 10.1007/s00345-025-06137-8.

ABSTRACT

PURPOSE: Thiazide (THZ) and thiazide-like (TL) diuretics are routinely prescribed and considered to be the gold-standard prophylaxis for kidney stones (KS) recurrence in current guidelines despite having limited evidence. Thus, we aimed to investigate the efficacy and safety of different doses of THZ and TL diuretics in preventing KS recurrence.

METHODS: We searched for randomised controlled trials in PubMed, Web of Science, Embase, CENTRAL, and clinical trials registries from their inception through January 2025. The clinical or radiological KS recurrence was the primary endpoint, while the occurrence of adverse effects at any time was the secondary endpoint. We estimated odds ratio (OR) in a frequentist random-effects network meta-analysis with P < 0.05. This study was prospectively registered (CRD42025650062).

RESULTS: Nine trials (n = 999) were included. Chlorthalidone 50 mg/d (OR: 0.18, 95% confidence interval [CI] 0.04-0.88), hydrochlorothiazide 50 mg/d (OR: 0.52, CI 0.29-0.93), and trichlormethiazide 4 mg/d (OR: 0.26, CI 0.10-0.68) were different from placebo in terms of KS recurrence. There was no evidence of dose-dependent effect when comparing hydrochlorothiazide 50 mg/d to 12.5 mg/d (OR: 0.58, CI 0.25-1.34) or 25 mg/d (OR: 0.65, CI 0.28-1.48), nor comparing chlorthalidone 50 mg/d to 25 mg/d (OR: 0.80, CI 0.12-5.20). Only trichlormethiazide 4 mg/d (OR: 49.96, CI 1.78-1 402.80) provoked more adverse effects than placebo.

CONCLUSION: Although some therapies were statistically different from placebo, the current evidence does not support their use in preventing KS recurrence due to several limitations, indicating that THZ and/or TL diuretics should not be routinely prescribed. Further well-designed trials are urgently needed to address head-to-head comparisons and provide high-quality evidence.

PMID:41396435 | DOI:10.1007/s00345-025-06137-8

J Craniofac Surg. 2025 Nov-Dec 01;36(8):2805-2810. doi: 10.1097/SCS.0000000000011828. Epub 2025 Oct 28.

ABSTRACT

BACKGROUND: Cranial vault remodeling (CVR) for craniosynostosis is associated with high transfusion rates and related complications, yet factors contributing to transfusion risk remain incompletely defined. This study aimed to identify patient-level and procedure-level predictors of transfusion and assess their association with postoperative outcomes.

METHODS: This retrospective cohort study used the 2012 to 2023 ACS NSQIP-Pediatric database to identify patients aged 2 and under who underwent cranial vault remodeling for craniosynostosis using CPT and ICD codes. The authors examined demographic, comorbidity, preoperative laboratory, intraoperative, and postoperative data. Perioperative blood transfusion was predicted using various supervised machine learning algorithms: logistic regression, naive Bayes, K-nearest neighbors, decision trees, random forests, and extreme gradient boosting. Model performance was assessed in training and testing phases for discrimination, calibration, and clinical utility.

RESULTS: A total of 10,732 patients were identified, of which 5781 (53.9%) received a perioperative blood transfusion. The mean age of the blood transfusion group was 8.53 months compared with 5.71 months for the no transfusion group (P<0.001). Multivariable logistic regression revealed that longer anesthesia duration (aOR: 2.07, 95% CI: 1.76-2.44) was significantly associated with increased odds of transfusion. Conversely, factors associated with lower odds of transfusion included higher preoperative hematocrit (aOR: 0.94, 95% CI: 0.89-0.99), along with minimally invasive surgery (aOR: 0.34, 95% CI: 0.13-0.87) and combination approaches (aOR: 0.34, 95% CI: 0.16-0.70) compared with open procedures. The logistic regression model demonstrated the highest discriminative performance (AUC=0.787), with comparable results observed for the random forest model (AUC=0.777). Key predictors identified included anesthesia duration, age, weight, preoperative albumin, platelet count, serum creatinine, hematocrit, and white blood cell count.

CONCLUSION: Patients undergoing craniosynostosis repair are at increased risk for transfusion based on age, comorbidities, surgical approach, and ethnicity. These findings highlight the need for early intervention and strategies to reduce transfusion risk in vulnerable populations.

PMID:41396426 | DOI:10.1097/SCS.0000000000011828

J Craniofac Surg. 2025 Nov-Dec 01;36(8):e1238-e1242. doi: 10.1097/SCS.0000000000012012. Epub 2025 Oct 28.

ABSTRACT

OBJECTIVE: This study aims to assess the effectiveness of combining cognitive behavioral therapy (CBT) and acupoint application for sleep disorders in patients with benign paroxysmal positional vertigo (BPPV), and to contribute evidence for multimodal strategies in managing sleep-vestibular comorbidities within an integrative medicine model.

METHODS: A total of 120 patients with BPPV and comorbid sleep disorders were randomly assigned, using a random number table, to 1 of 3 groups (n=40 per group): (1) control group, which received canalith repositioning maneuvers alone, (2) acupoint application group, which received canalith repositioning combined with acupoint therapy, and (3) the combined treatment group, which received acupoint therapy along with CBT. Primary outcomes included the Pittsburgh Sleep Quality Index (PSQI), dizziness handicap inventory (DHI), and total traditional Chinese medicine (TCM) syndrome score. Assessments were conducted at baseline, 1 week, 2 weeks, and 1 month post-intervention.

RESULTS: The combined treatment group demonstrated significantly greater overall clinical efficacy compared with both the acupoint application and the control group (P<0.05). No statistically significant differences were observed among the groups in baseline PSQI, DHI, and TCM syndrome scores (P>0.05). Post-treatment evaluations revealed significant reductions in PSQI, DHI, and TCM syndrome scores in the combined treatment group compared with the other 2 groups (P<0.05).

CONCLUSIONS: The integration of CBT with acupoint application significantly improved sleep quality, vestibular function, and overall quality of life of patients with BPPV, highlighting the synergistic benefits of this multimodal therapeutic approach.

PMID:41396422 | DOI:10.1097/SCS.0000000000012012