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Incomplete Family History and Meeting Algorithmic Criteria for Genetic Evaluation of Hereditary Cancer

JAMA Netw Open. 2025 Oct 1;8(10):e2539870. doi: 10.1001/jamanetworkopen.2025.39870.

ABSTRACT

IMPORTANCE: Incomplete electronic health record (EHR) documentation may limit the effectiveness of clinical decision support (CDS) algorithms designed to identify patients eligible for hereditary cancer genetic evaluation.

OBJECTIVES: To determine whether a CDS algorithm can identify patients who meet criteria for hereditary cancer genetic evaluation when family history data are incompletely documented in the EHR, and to examine whether data missingness is associated with identification patterns across patient subgroups.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study analyzed EHR data extracted in December 2020 from 2 large US health care systems: University of Utah Health (UHealth) and NYU Langone Health (NYULH). Eligible patients were adults aged 25 to 60 years who visited a primary care clinic within the previous 3 years and had some EHR documentation of cancer family history. Data analysis was conducted in August 2024.

EXPOSURES: Patient demographic factors (age, sex, race and ethnicity, and language preference) and cancer family history characteristics (number of cancer history records, number of affected first- and second-degree relatives, relatives with rising mortality cancers, presence of hereditary cancer-related terms in comments, and completeness of documentation).

MAIN OUTCOMES AND MEASURES: The primary outcome was meeting at least 1 CDS algorithm criterion for genetic evaluation of hereditary cancer risk based on National Comprehensive Cancer Network guidelines. Missing data patterns were assessed using the Little missing completely at random test, with analyses conducted using complete case analysis and multiple imputation.

RESULTS: This study included 157 207 patients: 55 918 from UHealth and 101 289 from NYULH. Their mean (SD) age was 43.5 (9.8) years, and most (65.7%) were female. A total of 5607 UHealth patients (10.0%) and 10 375 NYULH patients (10.2%) met CDS criteria for genetic evaluation. At UHealth, data appeared to be missing completely at random (χ239 = 39.09; P = .47), and complete case compared with multiple imputation analyses yielded similar results. At NYULH, data were not missing completely at random (χ255 = 914.89; P < .001). Compared with multiple imputation, complete case analysis produced different association magnitudes for older age and having relatives with rising mortality cancers, suggesting bias when excluding incomplete records.

CONCLUSIONS AND RELEVANCE: In this cross-sectional study, the magnitude of the association between incomplete family history documentation and identification of patients eligible for hereditary cancer genetic evaluation depended on whether data were missing randomly or systematically. These findings suggest that health care organizations implementing CDS algorithms should assess their specific missing data patterns and consider tailored approaches to handling incomplete family history information to ensure equitable identification of all patients who could benefit from genetic evaluation services.

PMID:41148137 | DOI:10.1001/jamanetworkopen.2025.39870

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Time to Total Hip Arthroplasty Among Patients in the US Military Health System

JAMA Netw Open. 2025 Oct 1;8(10):e2539971. doi: 10.1001/jamanetworkopen.2025.39971.

ABSTRACT

IMPORTANCE: Total hip arthroplasty (THA) delays can be deleterious. Robust evaluation of time to THA enables data-driven improvement efforts across the US Military Health System.

OBJECTIVE: To evaluate time to THA after hip osteoarthritis diagnosis by patient-, care-, and structural-level factors.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study evaluated medical records from US military and civilian health care facilities from March 1, 2015, to June 21, 2024. Participants were adult TRICARE enrollees diagnosed with hip osteoarthritis between March 1, 2018, and March 30, 2023, without diagnosis in the past 3 years, who received at least 1 additional visit 1 week to 3 years after the index date. Data were analyzed from July 2024 to August 2025.

MAIN OUTCOMES AND MEASURES: Time to THA within 3 years of index diagnosis.

RESULTS: Of 37 239 patients diagnosed with hip osteoarthritis (median [IQR] age, 59 [50-64] years; 21 553 [58%] male; 320 American Indian and Alaska Native [1%]; 1603 Asian and Pacific Islander [4%]; 8123 Black [22%]; 2041 Hispanic [5%]; 23 327 White [63%]; 1825 another race and ethnicity [5%]), 10 502 (28%) received a THA within 3 years. A piecewise exponential additive model indicated incidence rate ratios (IRRs) for time to THA were lower for Asian and Pacific Islander (IRR, 0.76; 95% CI, 0.66-0.88), Black (IRR, 0.79; 95% CI, 0.74-0.85), and Hispanic (IRR, 0.84, 0.73-0.96) patients compared with White patients; patients with psychiatric (IRR, 0.79; 95% CI, 0.76-0.83), pain-related (IRR, 0.69; 95% CI, 0.66-0.72), or obesity (IRR, 0.92; 95% CI, 0.88-0.96) diagnoses before the index diagnosis; patients with elevated comorbidity index scores (IRR, 0.85; 95% CI, 0.74-0.97); those diagnosed in the purchased care system (IRR, 0.38; 95% CI, 0.36-0.40) and in later years (IRR, 0.97; 95% CI, 0.95-0.99); and patients with 1 (IRR, 0.83; 95% CI, 0.77-0.90) or more (IRR, 0.75; 95% CI, 0.70-0.81) injections or 2 or more imaging visit days (IRR, 0.77; 95% CI, 0.69-0.86) before the index diagnosis. Retired service members (IRR, 1.39; 95% CI, 1.24-1.56) and family members (IRR, 1.48; 95% CI, 1.30-1.69) had higher incidence of THA compared with active-duty service members. Male patients had higher incidence compared with female patients (IRR, 1.20; 95% CI, 1.11-1.31). Patients with increasing orthopedic surgeon visit days (IRR, 1.67; 95% CI, 1.64-1.69), opioid prescriptions (IRR, 1.02; 95% CI, 1.01-1.03), and imaging visit days (IRR, 1.26; 95% CI, 1.24-1.28) after the index diagnosis were also more likely to undergo THA. Variation across geographic areas was mixed.

CONCLUSIONS AND RELEVANCE: In this cohort study of TRICARE enrollees, variation in THA receipt was identified across multilevel factors. These finding suggest that policy and programming decisions could benefit from including TRICARE-participating orthopedic surgeon locations, structural factors, and reimbursement models to optimize THA access.

PMID:41148135 | DOI:10.1001/jamanetworkopen.2025.39971

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Health Service Use Among Young Adults With a History of Adolescent Cannabis Use

JAMA Netw Open. 2025 Oct 1;8(10):e2539977. doi: 10.1001/jamanetworkopen.2025.39977.

ABSTRACT

IMPORTANCE: Adolescent cannabis use is a substantial public health concern given its associations with adverse mental and physical health outcomes. Understanding how distinct use patterns are associated with medical care utilization in young adulthood is critical for prevention.

OBJECTIVE: To examine the association between patterns of adolescent cannabis use and medical care utilization for mental and physical health conditions in young adulthood.

DESIGN, SETTING, AND PARTICIPANTS: This population-based birth cohort study linked to population-wide administrative medical care databases was conducted in the Province of Québec, Canada. Participants included individuals recruited for the Québec Longitudinal Study of Child Development, followed up from birth (1997-1998) to 23 years of age (2021). Data were analyzed November 2023 to February 2025.

EXPOSURE: Self-reported past 12-month cannabis use at ages 12, 13, 15, and 17 years.

MAIN OUTCOMES AND MEASURES: Medical care utilization for any mental disorder (including common mental disorders and substance-related disorders), suicide-related behaviors, and any physical health condition (including respiratory diseases, injuries and poisoning, and other physical diseases) between ages 18 and 23 years. Analyses were adjusted for 32 individual, family, and community-level confounders measured from birth to younger than 12 years of age using overlap weights.

RESULTS: Data for 1591 individuals (818 female [51.4%]; mean [SD] age at first exposure assessment, 12.1 [0.3] years) were analyzed. Three distinct adolescent cannabis use patterns were identified via group-based trajectory modeling: nonuse (948 [59.6%]), late-onset use (318 [20.0%], initiating after age 15 years), and early-onset and frequent use (325 [20.4%], initiating before age 15 years). In fully adjusted analyses, individuals with early-onset and frequent use had significantly higher odds of medical care utilization for any mental disorder (odds ratio [OR], 1.51 [95% CI, 1.10-2.08]), common mental disorders (OR, 1.57 [95% CI, 1.12-2.21]), any physical health condition (OR, 1.86 [95% CI, 1.30-2.67]), injuries and poisoning (OR, 1.41 [1.05-1.89]), and other physical diseases (OR, 1.47 [95% CI, 1.08-1.98]), compared with individuals with no use. Individuals with late-onset use did not differ significantly from those with nonuse for mental health outcomes (OR, 1.13 [95% CI, 0.80-1.58]) but had higher odds of medical care utilization for any physical health condition (OR, 1.63 [95% CI, 1.16-2.28]).

CONCLUSIONS AND RELEVANCE: Findings of this birth cohort study indicated that early-onset and frequent cannabis use was associated with greater medical care utilization for both mental and physical health conditions in young adulthood. These findings support the relevance of delaying initiation and reducing intensity of cannabis use during adolescence.

PMID:41148134 | DOI:10.1001/jamanetworkopen.2025.39977

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Characterizing CYP3A4-mediated drug interactions: a fixed-sequence pharmacokinetic Chinese study of posaconazole and ruxolitinib in haematological malignancies

J Antimicrob Chemother. 2025 Oct 28:dkaf398. doi: 10.1093/jac/dkaf398. Online ahead of print.

ABSTRACT

OBJECTIVES: This study investigated CYP3A4-mediated pharmacokinetic interactions between ruxolitinib (JAK1/2 inhibitor for steroid-refractory acute and chronic graft-versus-host disease) and posaconazole (antifungal prophylaxis in haematological malignancies) to inform clinical dosing strategies.

METHODS: In this open-label, fixed-sequence trial, eight Chinese patients with haematological malignancies received ruxolitinib 5 mg once daily (Day 1: monotherapy) followed by ruxolitinib 5 mg plus posaconazole 200 mg three times daily (Days 2-6: combination). Plasma concentrations of ruxolitinib and posaconazole were analysed using validated LC-MS/MS. Geometric mean ratios (GMRs) with 90% CIs for PK parameters were calculated to assess PK interactions.

RESULTS: All patients completed the study. Co-administration with posaconazole increased ruxolitinib AUC0-24h by 58% (GMR: 1.58; 90% CI: 1.32-1.88). Geometric mean AUC0-24h values were 179.80 μg·h/L [monotherapy, coefficient of variation (CV) 39.26%] versus 283.60 μg·h/L (combination, CV 41.42%). No significant change in Cmax was observed (GMR: 1.10; 90% CI: 0.90-1.36). Geometric mean of the maximum plasma concentration at steady state (Cmax,ss) and AUC0-24h of posaconazole were 1543.52 μg/L (CV 41.81%) and 31 404.37 μg·h/L (CV 32.14%). There was no significant correlation between the systemic exposure of posaconazole (AUC or Cmax,ss) and the ratio of ruxolitinib AUC0-24h when co-administered versus administered alone.

CONCLUSIONS: Although co-administration of posaconazole with ruxolitinib resulted in a statistically significant increase in ruxolitinib systemic exposure, the magnitude of this interaction was clinically moderate. Although ruxolitinib dose adjustment may not be routinely required when used concomitantly with posaconazole, close monitoring for ruxolitinib-related adverse effects is recommended under this combination therapy setting.

PMID:41148123 | DOI:10.1093/jac/dkaf398

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Gender differences in static and dynamic knee proprioception among young adults with non-specific low back pain: A cross-sectional study

J Back Musculoskelet Rehabil. 2025 Oct 28:10538127251391101. doi: 10.1177/10538127251391101. Online ahead of print.

ABSTRACT

BackgroundNon-specific low back pain (NSLBP) has been associated with proprioceptive deficits that may also affect the knee joint.ObjectiveThis study aimed to examine knee proprioception in young adults with NSLBP and to assess dynamic postural stability using the Biodex Balance System (BBS). It further explored whether gender influences these outcomes.MethodsEighty-eight participants, aged 18 to 26 years with a body mass index under 30 kg/m² and diagnosed with NSLBP, were recruited. They were assigned to male (n = 44) and female (n = 44) groups. Assessments included the Oswestry Disability Index (ODI), knee joint repositioning error (JPE) measured with a digital inclinometer, and dynamic balance evaluated with the BBS. The BBS provided overall stability index (OSI), anterior-posterior index (API), and medial-lateral index (MLI) scores. Statistical analyses were performed using SPSS with significance set at p < 0.05.ResultsThere were no significant gender differences in JPE (males: 30.97 ± 3.62; females: 30.28 ± 5.42, p > 0.05) or ODI. BBS outcomes, however, showed elevated OSI (4.2 ± 1.1 compared with 2.5 ± 0.5 in healthy controls, p < 0.01), API (3.8 ± 0.9 compared with 2.0 ± 0.4, p < 0.01), and MLI (3.5 ± 0.8 compared with 1.8 ± 0.3, p < 0.01), indicating impaired dynamic balance. No significant gender differences were observed in BBS indices.ConclusionNSLBP significantly impairs dynamic knee proprioception, as demonstrated by BBS findings. Gender did not influence proprioceptive performance in this cohort.

PMID:41148105 | DOI:10.1177/10538127251391101

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WIC Online Shopping: Challenges and Opportunities for Vendors and Farmers

J Nutr Educ Behav. 2025 Oct 28:S1499-4046(25)00441-5. doi: 10.1016/j.jneb.2025.09.006. Online ahead of print.

ABSTRACT

OBJECTIVE: This study aimed to expand knowledge and develop a list of technical assistance needs related to the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) online shopping for small, tribal, and rural vendors; farmers; and farmers’ markets.

DESIGN: A modified Delphi method was used, collecting information via a web-based survey, facilitated workshops, a listening session, and individual interviews from October 2023 to February 2024.

SETTING: Surveys were distributed through Qualtrics. Zoom was used to conduct virtual workshops, a listening session, and individual interviews.

PARTICIPANTS: Purposive sampling techniques were used to recruit the study sample. Of the 435 invited, 239 completed 50% of the survey; 22 survey respondents attended the workshop; 3 tribal vendors and/or farmers attended interview sessions; and 5 non-WIC-authorized vendors, farmers, and farmers’ markets attended the listening session.

MAIN OUTCOME MEASURE(S): The overall phenomenon of interest included themes related to facilitators and barriers to WIC online shopping.

ANALYSIS: Statistical software was used to report descriptive statistics. A rapid qualitative analysis inductive approach was used to construct themes for the study.

RESULTS: Facilitators included support and guidance, a robust platform, and feedback mechanisms, whereas barriers included time, resources, and technology.

CONCLUSIONS AND IMPLICATIONS: To ensure WIC online shopping success, it is essential to address both the barriers and facilitators experienced by vendors, farmers, and farmers’ markets. While this study collected various perspectives and experiences from merchants, future research may also focus attention on WIC participant perceptions of shopping online with these food retailers.

PMID:41148074 | DOI:10.1016/j.jneb.2025.09.006

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Dynamic contrast‑enhanced MRI and diffusion kurtosis imaging for the differentiation of Salivary gland tumors

Dentomaxillofac Radiol. 2025 Oct 28:twaf078. doi: 10.1093/dmfr/twaf078. Online ahead of print.

ABSTRACT

OBJECTIVE: This study aimed to evaluate the diagnostic ability of relative values of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) and diffusion kurtosis imaging (DKI) quantitative parameters for salivary gland tumors (SGTs).

METHODS: A total of 107 patients with histopathologically confirmed SGTs (18 malignant [MTs], 38 pleomorphic adenomas [PAs], 31 Warthin tumors [WTs], 20 basal cell adenomas [BCAs]) underwent MRI with DKI and DCE-MRI sequences. Quantitative parameters included DCE-MRI-derived volume transfer constant (Ktrans), rate constant (Kep), fractional volume of the extravascular-extracellular space (Ve), plasma fraction (Vp), and DKI-derived mean kurtosis (MK) and mean diffusion (MD).The receiver operating characteristic (ROC) curve were used for statistical analysis. Statistical significance was set at P < 0.05.

RESULTS: PAs exhibited the lowest MK (0.49 ± 0.15) among all groups (P < 0.05). Compared to WTs, PAs showed lower Kep (366.89[260.06, 568.32]×10-³ min-1), higher MD (2.02 ± 0.42 × 10-³ mm2/s), and higher Ve (551.83[388.10, 883.19]×10-³). PAs also displayed higher Ve, lower Kep, and lower Vp (85.42[20.53, 332.72])×10-³) than BCAs, and lower Vp with higher Ve than MTs (all P < 0.05). WTs had significantly lower Ve (218.86[142.07, 341.76]×10-³) than MTs (P = 0.001). BCAs demonstrated lower MK (0.61 ± 0.23) and higher MD (1.97 ± 0.44 × 10-³ mm2/s) compared to WTs and MTs (P < 0.05), alongside lower Ktrans (355.25[211.88, 506.92]×10-³ min-1) and Ve (380.89[271.28, 589.53]×10-³) than WTs (P < 0.05). Logistic regression analysis revealed enhanced discrimination: MK+Ve (AUC = 0.895) and MK+MD+Ve+Kep (AUC = 0.936) differentiated PAs from WTs; Kep+Vp+Ve distinguished PAs from BCAs (AUC = 0.843); MD+MK+Vp separated PAs from MTs (AUC = 0.854); Ktrans+MK differentiated WTs from BCAs (AUC = 0.856).

CONCLUSION: DKI and DCE-MRI parameters complement each other, enabling accurate SGT subtype differentiation. Combined use of these parameters achieves high diagnostic accuracy, and a stepwise diagnostic flowchart was designed to facilitate systematic discrimination among the four tumor types.

PMID:41148036 | DOI:10.1093/dmfr/twaf078

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Outcomes of pediatric rhegmatogenous retinal detachment in a tertiary care center in North India

Indian J Ophthalmol. 2025 Nov 1;73(11):1640-1646. doi: 10.4103/IJO.IJO_912_25. Epub 2025 Oct 29.

ABSTRACT

PURPOSE: To look at the outcomes of various interventions in treatment-naive pediatric rhegmatogenous retinal detachment (RRD).

METHODS: This study was conducted at a tertiary care hospital in North India. Children below 16 years with treatment-naive RRD with a minimum 6-month follow-up were enrolled retrospectively from July 2012 to June 2021 and prospectively from July 2021 to June 2022. Patient demographics at presentation, risk factors, preoperative ophthalmic findings including best-corrected visual acuity (BCVA), the choice of surgery and tamponade, and postoperative assessment parameters were recorded. The primary outcome measure was anatomical success after surgery. Secondary outcome measures included functional success, that is, postoperative BCVA at last follow-up, improvement in vision, number of surgeries required to achieve final anatomical success, and correlation of factors such as age and etiology with outcomes. Functional success was taken as postoperative BCVA ≥ logMAR 1.3.

RESULTS: Among the 333 pediatric patients (348 eyes), the most common etiology was trauma (44.8%), followed by high myopia (17%) and idiopathic causes (15.5%). Primary anatomical success was achieved in 66.9% of cases, improving to 88.5% with additional surgeries. Functional success was recorded in 46.3% of cases. Combined scleral buckling (SB) and pars plana vitrectomy (PPV) provided the best anatomical (66.01%) and functional (48.32%) outcomes.

CONCLUSION: Pediatric RRD presents significant management challenges. Combined SB + PPV yielded superior outcomes. Functional recovery remains limited, emphasizing the need for early detection, improved surgical strategies, and long-term follow-up for optimal visual rehabilitation.

PMID:41148019 | DOI:10.4103/IJO.IJO_912_25

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Peripapillary and macular vascular changes in unilateral nonarteritic anterior ischemic optic neuropathy: An optical coherence tomography angiography study

Indian J Ophthalmol. 2025 Nov 1;73(11):1633-1639. doi: 10.4103/IJO.IJO_1692_24. Epub 2025 Oct 29.

ABSTRACT

PURPOSE: To assess optical coherence tomography angiography (OCTA) changes in acute nonarteritic anterior ischemic optic neuropathy (NAION) eyes compared to fellow unaffected eyes and describe the longitudinal OCTA changes within the first 12 weeks of onset while the disc is still edematous.

DESIGN: A prospective observational study.

METHODS: A total of 30 patients, diagnosed with unilateral acute NAION, were included. Bilateral OCT and OCTA of the macula and optic nerve head (ONH) were done. Scans were performed at presentation and then at 6 weeks and 12 weeks thereafter.

RESULTS: Nerve fibre layer thickness (NFLT) and ganglion cell complex thickness (GCC) were significantly lower in diseased eyes after resolution of edema. Similarly, ONH and peripapillary vessel densities were significantly reduced in NAION eyes throughout the three visits, while macular superficial vessel density demonstrated a statistically significant decrease only from the second visit onward. Conversely, deep macular and foveal avascular zone (FAZ) vessel density (VD) showed no significant change in NAION eyes except at the third visit with lower VD in NAION eyes. However, all VD biomarkers of NAION eyes, including deep macular and FAZ VD, demonstrated a significant decrease in the 6-week and 12-week visits compared to baseline.

CONCLUSIONS: OCTA VD changes in NAION demonstrated a temporal sequence where radial peripapillary capillary vascular density was the first to decrease, followed by macular superficial vascular density and last the macular deep vascular density. Moreover, there was a progressive decrease in all OCTA VD measurements in NAION eyes during follow-up.

PMID:41148018 | DOI:10.4103/IJO.IJO_1692_24

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Retinal astrocytic hamartoma with/without tuberous sclerosis: A comparative analysis by multimodal imaging

Indian J Ophthalmol. 2025 Nov 1;73(11):1620-1626. doi: 10.4103/IJO.IJO_992_25. Epub 2025 Oct 29.

ABSTRACT

PURPOSE: To compare the clinical and imaging characteristics of isolated retinal astrocytic hamartoma (RAH) versus tuberous sclerosis complex (TSC)-associated RAH.

METHODS: This retrospective multicenter study included 38 patients diagnosed with RAH between 2000 and 2023. Clinical data and imaging findings were evaluated, including color fundus photography, optical coherence tomography (OCT), B-scan ultrasonography, and fundus autofluorescence. Statistical comparisons were performed between isolated and TSC-associated RAH.

RESULTS: The mean patient age was 26 years, with a slight male predominance (55%). Bilateral involvement was more common in TSC-associated RAH (55%). Overall, optical coherence tomography (OCT) of 18 eyes revealed optically empty cavities (44%), inner retinal disorganization (13%), outer retinal disorganization (8%), complete retinal disorganization (8%), and associated subretinal (SRF) and intraretinal fluid in 28% and 17% of eyes, respectively. Autofluorescence showed hyperautofluorescence in 86% and hypoautofluorescence in 14%, corresponding to calcified and noncalcified regions. Compared with isolated RAH, TSC-associated RAH demonstrated a higher prevalence of multifocal lesions (47% vs. 29%), superior quadrant involvement (86% vs. 40%), complete retinal disorganization (71% vs. 20%), and presence of SRF (100% vs. 0%).

CONCLUSION: TSC-associated RAH exhibits distinct morphological and imaging features, including greater multifocality and superior quadrant involvement. TSC-associated RAH exhibits more extensive retinal disorganization, frequent loss of deeper retinal layer visibility, and association with SRF, which may serve as an important diagnostic marker for systemic screening. Recognizing these differences aids ophthalmologists when evaluating RAH and associated TSC.

PMID:41148016 | DOI:10.4103/IJO.IJO_992_25