Nevin Manimala

Ophthalmic Genet. 2025 May 14:1-5. doi: 10.1080/13816810.2025.2503394. Online ahead of print.

ABSTRACT

INTRODUCTION: This original study presents an investigation of ophthalmological manifestations in Mucopolysaccharidosis IVA, a rare genetic disorder with limited characterization, particularly of ocular findings.

PURPOSE: To describe the ophthalmological manifestations in patients with Morquio disease in Medellín, Colombia.

STUDY DESIGN AND METHODOLOGY: A cross-sectional study was conducted with 23 patients diagnosed with Morquio syndrome. They underwent a comprehensive ophthalmological evaluation, and clinical findings were recorded in an online Excel sheet. Descriptive statistical methods were then applied, with data reported as absolute frequencies and percentages.

RESULTS: Refractive defects were found in 100% of patients, primarily hyperopia. Cataracts were the next most common finding (71%), particularly of the starry nuclear type. Corneal stromal opacity was observed in 60%, with 55% in children. In this group, 40% had moderate severity and 20% had total opacity. In adults, stromal opacity was present in 60%, with 66% showing moderate severity.

CONCLUSION: Most Morquio disease patients in Antioquia exhibit refractive defects, with hyperopia being the most common. Among physical examination findings, stromal corneal opacity and starry nuclear cataracts were the most prevalent.

PMID:40366728 | DOI:10.1080/13816810.2025.2503394

Laterality. 2025 May 14:1-20. doi: 10.1080/1357650X.2025.2497570. Online ahead of print.

ABSTRACT

Familial sinistrality (left-handedness) has been suggested as a proxy for functional language lateralization in the healthy adult brain. Previous studies show that individuals with familial sinistrality tend to have less lateralized language-related brain activation, while individuals without familial sinistrality show greater left-hemispheric lateralization for language. However, familial sinistrality trait has always been treated as a binary categorical variable. In this study a more sensitive quantitative estimate of familial sinistrality (LH load) has been modelled in 39 participants with different direction and degree of handedness by applying a standard genetic multifactorial model. This LH load was tested for an association with functional language lateralization based on an fMRI sentence completion task. Using frequentist and Bayesian statistical frameworks, the association between LH load and language lateralization was not confirmed. The findings of the present research suggest that a quantitative measure of familial sinistrality is not related to individual language representation in the brain measured by a sentence completion fMRI paradigm. However, considering the context of our study and previous research we suggest that familial sinistrality being related to personal handedness could drive functional language lateralization through it.

PMID:40366717 | DOI:10.1080/1357650X.2025.2497570

JAMA Psychiatry. 2025 May 14. doi: 10.1001/jamapsychiatry.2025.0702. Online ahead of print.

ABSTRACT

IMPORTANCE: Among hospitalized older adults, prolonged use of antipsychotic medications (APMs) following hospital discharge may increase the risk of APM-associated adverse events. There are limited data on whether early discontinuation of APMs is associated with reduced adverse clinical outcomes compared with APM continuation after discharge.

OBJECTIVE: To compare clinical outcomes between discontinuation vs continuation of APMs initiated to manage hospitalization-related delirium.

DESIGN, SETTING, AND PARTICIPANTS: This population-based cohort study examining nationwide US Medicare claims data from July 1, 2013, through December 31, 2018, and data from a large deidentified US commercial health care database (Optum CDM) from July 1, 2004, through May 31, 2024, included adults aged 65 years and older without psychiatric disorders or previous use of APMs who filled an APM prescription within 30 days of hospital discharge. Using incidence density sampling, APM discontinuers (gap ≥45 days) were matched with continuers based on the type of APM prescribed, the time since their first APM prescription, and whether they had been admitted to intensive care units prior to the first APM prescription. Data analysis was performed from July 12, 2024, to December 25, 2024.

EXPOSURE: Discontinuation vs continuation of APMs.

MAIN OUTCOMES AND MEASURES: Propensity score matching was applied to adjust for 162 covariates. Study outcomes included rehospitalization, specific rehospitalization reasons, and all-cause mortality. Hazard ratios (HRs) were estimated using the Cox proportional hazards model; estimates from the 2 databases were further pooled using the fixed-effects meta-analysis model.

RESULTS: A total of 13 712 propensity score-matched pairs were included, for an overall sample of 27 424 adults (discontinuers: mean [SD] age, 81.86 [7.26] years; 7400 [54.0%] female; continuers: mean [SD] age, 81.86 [7.27] years; 7360 [53.7%] female). During the median (IQR) follow-up of 180 (87-180) days, APM discontinuation vs continuation was associated with significantly lower risks of rehospitalization (HR, 0.89 [95% CI, 0.85-0.94]), inpatient delirium (HR, 0.87 [95% CI, 0.79-0.96]), fall-related emergency department visits or hospitalizations (HR, 0.77 [95% CI, 0.67-0.90]), hospitalization with urinary tract infection (HR, 0.79 [95% CI, 0.66-0.94]), and all-cause mortality (HR, 0.77 [95% CI, 0.69-0.86]). There was no statistical difference in the risks of pneumonia (HR, 0.88 [95% CI, 0.73-1.06]) or stroke (HR, 1.22 [95% CI, 0.97-1.53]) between discontinuers and continuers. Subgroups by dementia status, type and dose of APM prescribed, and duration of APM exposure showed consistent results.

CONCLUSIONS AND RELEVANCE: Based on 2 nationwide US cohorts including older adults without psychiatric disorders, APM discontinuation was associated with reduced risks of all-cause rehospitalization and mortality, suggesting the importance of minimizing the duration of APM use after acute hospitalization.

PMID:40366701 | DOI:10.1001/jamapsychiatry.2025.0702

JAMA Surg. 2025 May 14. doi: 10.1001/jamasurg.2025.1129. Online ahead of print.

ABSTRACT

IMPORTANCE: Approximately 2 million individuals are incarcerated in the US. Surgical needs increase with age, and an aging prison population means an increasing need for surgical care for incarcerated individuals. Challenges in logistics, privacy, communication, and comorbidities put people in law enforcement custody at risk for suboptimal care and outcomes. Little guidance exists for surgeons seeking to provide equitable care for these patients.

OBSERVATIONS: No national statistics are available on the need for surgery among incarcerated people. Autopsy data suggest that nearly a quarter of deaths among incarcerated individuals were attributable to causes that could have been treated with surgery, yet few received surgical care before death. Across the spectrum of custody, including police detention, jail, prison, probation, and parole, access to consistent preoperative and postoperative care are major challenges, as is sustaining appropriate levels of privacy and communication. Incarcerated people are often accompanied by guards, preventing privacy. Patients are shackled to hospital beds, restricting mobility. For incarcerated individuals, access to postoperative medication may be curtailed when they return to jail or prison. To be effective advocates for patient-centered care and to achieve the best outcomes, surgeons must remain vigilant to specific barriers to care.

CONCLUSIONS AND RELEVANCE: Individuals in law enforcement custody have particular needs regarding communication, surgical planning, and perioperative and postoperative care. Clinicians must remain alert to these challenges and serve as advocates for these marginalized patients, even adjusting their care practices. Professional societies and health systems can bolster care for this marginalized population by developing and disseminating guidelines and pathways for patient-centered surgical care for individuals in law enforcement custody.

PMID:40366700 | DOI:10.1001/jamasurg.2025.1129

Proc Natl Acad Sci U S A. 2025 May 20;122(20):e2503850122. doi: 10.1073/pnas.2503850122. Epub 2025 May 14.

ABSTRACT

The distribution of personal names provides unique, yet often overlooked, insight into modern and historical societies. This study employs diversity statistics-commonly used in ecology-to analyze onomastic data from Iron Age II archaeological excavations in the Southern Levant (950-586 BCE). Our findings reveal higher onomastic diversity in the Kingdom of Israel compared to Judah, suggesting a more cosmopolitan society. We also observe a decrease in name diversity in Judah over time, potentially reflecting sociopolitical changes. Center/periphery analysis shows contrasting patterns in Israel and Judah. These results provide insights into social dynamics, cultural interactions, and identity formation in these ancient societies. Our methodology, validated using supplementary archaeological data, as well as modern datasets, offers a robust framework for applying diversity statistics across various modern and historical contexts.

PMID:40366687 | DOI:10.1073/pnas.2503850122

Proc Natl Acad Sci U S A. 2025 May 20;122(20):e2412978122. doi: 10.1073/pnas.2412978122. Epub 2025 May 14.

ABSTRACT

Many biological studies involve inferring the evolutionary history of a sample of individuals from a large population and interpreting the reconstructed tree. Such an ascertained tree typically represents only a small part of a comprehensive population tree and is distorted by survivorship and sampling biases. Inferring evolutionary parameters from ascertained trees requires modeling both the underlying population dynamics and the ascertainment process. A crucial component of this phylodynamic modeling involves tree simulation, which is used to benchmark probabilistic inference methods. To simulate an ascertained tree, one must first simulate the full population tree and then prune unobserved lineages. Consequently, the computational cost is determined not by the size of the final simulated tree, but by the size of the population tree in which it is embedded. In most biological scenarios, simulations of the entire population are prohibitively expensive due to computational demands placed on lineages without sampled descendants. Here, we address this challenge by proving that, for any partially ascertained process from a general multitype birth-death-mutation-sampling model, there exists an equivalent process with complete sampling and no death, a property which we leverage to develop a highly efficient algorithm for simulating trees. Our algorithm scales linearly with the size of the final simulated tree and is independent of the population size, enabling simulations from extremely large populations beyond the reach of current methods but essential for various biological applications. We anticipate that this massive speedup will significantly advance the development of novel inference methods that require extensive training data.

PMID:40366686 | DOI:10.1073/pnas.2412978122

JAMA Netw Open. 2025 May 1;8(5):e259840. doi: 10.1001/jamanetworkopen.2025.9840.

ABSTRACT

IMPORTANCE: Patients with sporadic breast cancer have comparable prognoses after undergoing either breast-conserving treatment (BCT) or mastectomy. However, there are limited and inconsistent data on the assessment of oncologic outcomes between BCT and mastectomy in patients with pathogenic variants in BRCA1 or BRCA2.

OBJECTIVE: To investigate the outcomes of BCT on recurrence and survival in patients with breast cancer with BRCA1 or BRCA2 pathogenic variants.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective multicenter cohort study analyzed patients from 13 institutions in South Korea with primary breast cancer with BRCA1 or BRCA2 pathogenic variants who underwent either BCT or mastectomy from January 2008 through December 2015. The median (IQR) follow-up period was 8.3 (6.4-9.6) years. Data were analyzed from September 2023 to August 2024.

EXPOSURE: BRCA1 or BRCA2 pathogenic variant and BCT.

MAIN OUTCOMES AND MEASURES: Primary outcomes were logoregional recurrence-free survival, distant recurrence-free survival, and overall survival. Propensity score matching (PSM) using the greedy nearest neighbor method was performed to match covariates to minimize potential selection bias.

RESULTS: A total of 575 female patients with BRCA1 or BRCA2 pathogenic variants were identified, all of whom were South Korean with a mean (SD) age of 42.0 (9.7) years. Among them, 367 patients (66.2%) received BCT and 186 (33.8%) were treated with mastectomy. BCT was not a factor associated with oncologic outcomes, including locoregional recurrence, compared with mastectomy. After adjusting for clinicopathologic characteristics through 1:1 PSM, there were still no statistically significant differences in oncologic outcomes between the BCT group and the mastectomy group. Multivariate analysis showed that the type of breast surgery was not significantly associated with oncologic outcomes. In subgroup analysis among matched patients based on BRCA1 or BRCA2 status, tumor size, lymph node metastasis, histologic grade, and subtype, BCT was also not a factor associated with risk for recurrence.

CONCLUSIONS AND RELEVANCE: The findings from this cohort study of patients with BRCA1 or BRCA2 pathogenic variants suggested that there were no significant differences in oncologic outcomes between patients who underwent BCT and those who underwent mastectomy. Therefore, breast conservation with close surveillance can be considered a viable treatment option for BRCA1 or BRCA2 pathogenic variant carriers. Further studies incorporating prospectively collected data are warranted to validate our findings.

PMID:40366658 | DOI:10.1001/jamanetworkopen.2025.9840

JAMA Netw Open. 2025 May 1;8(5):e2510173. doi: 10.1001/jamanetworkopen.2025.10173.

ABSTRACT

IMPORTANCE: Little is known about patterns (forms, frequency, and reasons) and factors associated with cannabis use in older veterans (aged ≥65 years).

OBJECTIVE: To examine factors associated with past 30-day cannabis use and cannabis use disorder (CUD) in older veterans.

DESIGN, SETTING, AND PARTICIPANTS: In this cross-sectional study, community-dwelling adults aged 65 to 84 years who used Veterans Health Administration care were interviewed between February 5, 2020, and August 29, 2023.

EXPOSURE: Sociodemographic, behavioral, and health-related characteristics.

MAIN OUTCOMES AND MEASURES: Past 30-day cannabis use (smoking, vaping, dabbing, or edibles) and any CUD (≥2 criteria based on Diagnostic and Statistical Manual of Mental Disorders [Fifth Edition]) were assessed using weighted multivariable logistic regressions.

RESULTS: Of the 4503 participants (weighted mean age, 73.3 years [95% CI, 73.0-73.5 years]; 85.4% [95% CI, 83.6%-87.2%] men), 58.2% (95% CI, 55.3%-61.0%) had ever used cannabis, 28.9% (95% CI, 26.0%-31.8%) of whom reported using cannabis for medical reasons, most commonly for pain (56.4%; 95% CI, 50.9%-61.9%), mood or mental health (18.4%; 95% CI, 14.7%-22.1%), and sleep (16.0%; 95% CI, 11.9%-20.0%). More than 1 in 10 reported past 30-day cannabis use (10.3%; 95% CI, 8.9%-11.7%), with 52.4% (95% CI, 45.4%-59.4%) of these using cannabis for 20 days or more; smoking (72.4%; 95% CI, 65.4%-79.3%) and edibles (36.9%; 95% CI, 29.8%-43.9%) were the most common forms of use. Characteristics associated with past 30-day use included younger age (65-75 years), economic hardship, tobacco and illicit drug use, and residing in a state with recreationally legal cannabis. Among those with past 30-day cannabis use, 36.3% (95% CI, 30.1%-42.6%) screened positive for CUD, with higher odds among younger respondents, those reporting anxiety, those with 1 or more deficits in activities of daily living, those with illicit drug use, those with frequent cannabis use, and those using cannabis recreationally. Past 30-day inhaled cannabis use, compared with edibles only, was associated with increased odds of any CUD (adjusted odds ratio, 3.56; 95% CI, 1.12-11.26).

CONCLUSIONS AND RELEVANCE: In this cross-sectional study of cannabis use in older veterans, use was common, and more than one-third who used in the past 30 days had any CUD. The prevalence of past 30-day cannabis use was close to tobacco use prevalence, and risk factors for cannabis use were similar to those observed in other populations. Frequent and inhaled cannabis use was associated with higher odds of any CUD. Routine health screening for cannabis use in Veterans Health Administration clinical settings is necessary to identify older adults with cannabis use.

PMID:40366653 | DOI:10.1001/jamanetworkopen.2025.10173

JAMA Netw Open. 2025 May 1;8(5):e2510298. doi: 10.1001/jamanetworkopen.2025.10298.

ABSTRACT

IMPORTANCE: Patients with dementia have considerable supportive care needs. Specialist palliative care may be beneficial, but it is unclear which patients are most appropriate for referral and when they should be referred.

OBJECTIVE: To identify a set of consensus referral criteria for specialist palliative care for patients with dementia.

DESIGN, SETTING, AND PARTICIPANTS: In this survey study using 3 rounds of Delphi surveys, an international, multidisciplinary panel of clinicians from 5 continents with expertise in the integration of dementia and palliative care were asked to rate 83 putative referral criteria (generated from a previous systematic review and steering committee discussion). Specialist palliative care was defined as an interdisciplinary team consisting of practitioners with advanced knowledge and skills in palliative medicine offering consultative services for specialist-level palliative care in (nonhospice) inpatient, outpatient, community, and home-based settings.

MAIN OUTCOMES AND MEASURES: Consensus was defined a priori as at least 70% agreement among experts. A criterion was coded as major if the experts advocated that meeting 1 criterion alone was satisfactory to justify a referral. Data were summarized using descriptive statistics.

RESULTS: Of the 63 invited and eligible panelists, the response rate was 58 (92.1%) in round 1, 58 (92.1%) in round 2, and 60 (95.2%) in round 3. Of the 58 panelists who provided demographic data in round 1, most were aged 40 to 49 years (28 of 58 [48.3%]), and 29 panelists (50%) each were men and women. Panelists achieved consensus on 15 major and 42 minor criteria for specialist palliative care referral. The 15 major criteria were grouped under 5 categories, including dementia type (eg, rapidly progressive dementia), symptom distress (eg, severe physical symptoms), psychosocial factors or decision-making (eg, request for hastened death, assisted suicide, or euthanasia), comorbidities or complications (eg, ≥2 episodes of aspiration pneumonia in the past 12 months); and hospital use (eg, ≥2 hospitalizations within the past 3 months).

CONCLUSIONS AND RELEVANCE: In this Delphi survey study, international experts reached consensus on a range of criteria for referral to specialist palliative care. With testing and validation, these criteria may be used to standardize specialist palliative care access for patients with dementia across various care settings.

PMID:40366652 | DOI:10.1001/jamanetworkopen.2025.10298

JAMA Dermatol. 2025 May 14. doi: 10.1001/jamadermatol.2025.1190. Online ahead of print.

ABSTRACT

IMPORTANCE: Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition. Risk factors for developing HS (eg smoking and obesity) are influenced by social drivers of health at the neighborhood level. However, the association of neighborhood-level socioeconomic status (nSES) and HS has not been adequately assessed.

OBJECTIVE: To evaluate the association of nSES with new HS diagnoses among dermatology patients within a single health system.

DESIGN, SETTING, AND PARTICIPANTS: This was a cross-sectional study of patients of the dermatology clinics at the University of California San Francisco health system between August 1, 2019, and May 31, 2024, who were also residents of the San Francisco Bay Area at index visit. Data analyses were performed from June 1, 2024, to February 11, 2025.

EXPOSURE: Census tract-level index measure of nSES that incorporated income, poverty, housing cost, rental cost, education, occupation, and employment. Quintiles of nSES were assigned based on nSES distribution in the San Francisco Bay Area counties.

MAIN OUTCOMES AND MEASURES: A new HS diagnosis during the study period, identified by the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision code, and confirmed by medical record review. Logistic regression models were constructed and fit by generalized estimating equations accounting for clustering by census tract with nSES quintile as the primary exposure (reference used was quintile 5, the highest nSES quintile); new HS diagnosis as the binary outcome; and age, sex, and race and ethnicity as confounders. In secondary analyses, smoking status, obesity, and health insurance type were assessed as possible mediators.

RESULTS: The analyses included a total of 65 766 patients (mean [SD] age, 50.4 [18.3] years; 41.8% female), of whom 485 (0.7%) had a new HS diagnosis. Greater odds of a new HS diagnosis were observed in lower-SES neighborhoods (Q1-Q4)-after adjusting for age, sex, and race and ethnicity, odds ratio for Q1 was 3.32 (95% CI, 2.46-4.49); Q2, 2.25 (95% CI, 1.62-3.12); Q3, 1.97 (95% CI, 1.46-2.66); and Q4, 1.44 (95% CI, 1.06-1.96) (P <.001 [linear trend]). In race-stratified analyses, greater odds of a new HS diagnosis were observed among patients residing in lower-SES neighborhoods, although this pattern did not reach statistical significance at the 5% level in all racial and ethnic groups.

CONCLUSIONS AND RELEVANCE: This cross-sectional study found that nSES was independently associated with a new diagnosis of HS among dermatology patients. This finding supports the hypothesis that neighborhood-level factors may influence the development of HS.

PMID:40366644 | DOI:10.1001/jamadermatol.2025.1190