85 results match your criteria: "San Diego Medical School[Affiliation]"

Adaptive behavior in complex environments requires integrating visual perception with memory of our spatial environment. Recent work has implicated three brain areas in posterior cerebral cortex - the place memory areas (PMAs) that are anterior to the three visual scene perception areas (SPAs) - in this function. However, PMAs' relationship to the broader cortical hierarchy remains unclear due to limited group-level characterization.

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Importance: Identification of individuals at high risk of alcohol use disorder (AUD) and subsequent application of prevention and intervention programs has been reported to decrease the incidence of AUD. The polygenic score (PGS), which measures an individual's genetic liability to a disease, can potentially be used to evaluate AUD risk.

Objective: To assess the estimability and generalizability of the PGS, compared with family history and ADH1B, in evaluating the risk of AUD among populations of European ancestry.

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Background: Preliminary evaluations of 212 drinking offspring from the San Diego Prospective Study (SDPD) indicated that over 50% developed alcohol use disorder (AUD) by their mid-20s. The present analysis evaluated if those findings remained robust when the group increased to 454 individuals, a sample size that facilitated a search for potential contributors to the high AUD prevalence.

Methods: Semistructured interviews were used to evaluate lifetime AUD diagnoses in 224 daughters and 230 sons from the SDPS (N = 454) by mean age 26.

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Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Am J Hum Genet

November 2024

Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed.

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As the number of older people with HIV (PWH) grows, accidental falls and their associated negative health outcomes are of increasing concern. Fall risk can be measured using novel screening tools such as evaluating postural stability using force plate technology. The aims of this study were to test this technology to assess fall risk among older PWH.

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Background: In the United States, ~50% of individuals who meet criteria for alcohol use disorder (AUD) during their lifetimes do not remit. We previously reported that a polygenic score for AUD (PGS ) was positively associated with AUD severity as measured by DSM-5 lifetime criterion count, and AUD severity was negatively associated with remission. Thus, we hypothesized that PGS would be negatively associated with remission.

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Introduction: Identification of psychosocial-behavioral phenotypes to understand within-group heterogeneity in risk and resiliency to Alzheimer's disease (AD) within Black/African American and Hispanic/Latino older adults is essential for the implementation of precision health approaches.

Methods: A cluster analysis was performed on baseline measures of socioeconomic resources (annual income, social support, occupational complexity) and psychiatric distress (chronic stress, depression, anxiety) for 1220 racially/ethnically minoritized adults enrolled in the Health and Aging Brain Study-Health Disparities (HABS-HD). Analyses of covariance adjusting for sociodemographic factors examined phenotype differences in cognition and plasma AD biomarkers.

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Importance: Current Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) (DSM-5) diagnoses of substance use disorders rely on criterion count-based approaches, disregarding severity grading indexed by individual criteria.

Objective: To examine correlates of alcohol use disorder (AUD) across count-based severity groups (ie, mild, moderate, mild-to-moderate, severe), identify specific diagnostic criteria indicative of greater severity, and evaluate whether specific criteria within mild-to-moderate AUD differentiate across relevant correlates and manifest in greater hazards of severe AUD development.

Design, Setting, And Participants: This cohort study involved 2 cohorts from the family-based Collaborative Study on the Genetics of Alcoholism (COGA) with 7 sites across the United States: cross-sectional (assessed 1991-2005) and longitudinal (assessed 2004-2019).

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Some sources report increases in alcohol use have been observed since the start of the COVID-19 pandemic, particularly among women. Cross-sectional studies suggest that specific COVID-19-related stressful experiences (e.g.

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Background: Researchers have identified genetic and neural risk factors for externalizing behaviors. However, it has not yet been determined if genetic liability is conferred in part through associations with more proximal neurophysiological risk markers.

Methods: Participants from the Collaborative Study on the Genetics of Alcoholism, a large, family-based study of alcohol use disorders were genotyped and polygenic scores for externalizing (EXT PGS) were calculated.

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Article Synopsis
  • Men with chronic kidney disease (CKD) generally have a faster progression of the disease than women, but the impact on cardiovascular risk is less clear.
  • A study analyzing data from four cohort studies in Italy found that women had a lower adjusted risk of cardiovascular events compared to men, though this advantage decreased as systolic blood pressure (SBP) increased.
  • Specifically, women had significantly lower cardiovascular risk at SBP levels below 140 mmHg, but their protective advantage disappeared at higher blood pressure levels.
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Background And Hypothesis: Risk for cannabis use and schizophrenia is influenced in part by genetic factors, and there is evidence that genetic risk for schizophrenia is associated with subclinical psychotic-like experiences (PLEs). Few studies to date have examined whether genetic risk for schizophrenia is associated with cannabis-related PLEs.

Study Design: We tested whether measures of cannabis involvement and polygenic risk scores (PRS) for schizophrenia were associated with self-reported cannabis-related experiences in a sample ascertained for alcohol use disorders (AUDs), the Collaborative Study on the Genetics of Alcoholism (COGA).

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Genetic nurture effects for alcohol use disorder.

Mol Psychiatry

February 2023

Department of Psychiatry, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA.

We tested whether aspects of the childhood/adolescent home environment mediate genetic risk for alcohol problems within families across generations. Parental relationship discord and parental divorce were the focal environments examined. The sample included participants of European ancestry (N = 4806, 51% female) and African ancestry (N = 1960, 52% female) from the high-risk Collaborative Study on the Genetics of Alcoholism.

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Article Synopsis
  • The study aimed to evaluate how the sequence of treatments (upadacitinib vs adalimumab) affects patient outcomes after inadequate response to methotrexate.
  • In a randomized trial, patients who did not show significant improvement were switched between therapies, and treatment effectiveness was measured over 48 weeks.
  • Results indicated that while both treatments led to similar achievement rates of clinical targets, those starting with upadacitinib reached these targets quicker and experienced better overall effects.
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Introduction: In SERAPHIN, a long-term, event-driven, double-blind randomised controlled trial in pulmonary arterial hypertension (PAH), macitentan 10 mg significantly reduced the risk of morbidity/mortality compared with placebo. Its open-label extension study (SERAPHIN OL) further assessed long-term safety and tolerability of macitentan 10 mg in PAH patients.

Methods: Patients in SERAPHIN who completed the double-blind treatment period or experienced a morbidity event during the study could enter SERAPHIN OL.

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Article Synopsis
  • GWAS in admixed populations like African Americans show limited sample sizes, impacting the effectiveness of polygenic risk scores (PRS) for diseases like alcohol use disorder (AUD).
  • A novel gene-based PRS framework was developed using 858 variants located within 410 disease-associated genes that are relevant in both African American and European ancestry populations.
  • The study found that this gene-based PRS significantly predicted AUD risk better than traditional methods, with the highest PRS decile showing a 76% increased odds of developing AUD, and identified genes potentially useful for drug repurposing.
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The SHARE Study: Pilot Study of a Communication Intervention Designed to Elicit Advanced-Stage Cancer Patients' Preferences and Goals.

J Palliat Med

November 2022

Department of Health Care Policy, Harvard Medical School and Division of General Internal Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

Helping seriously ill cancer patients identify and communicate their care preferences improves outcomes. The aim of this study was to pilot test the feasibility and acceptability of an intervention designed to elicit patients' preferences and goals of care and share them with their oncology teams. A single-arm pilot study of a 2.

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Rationale & Objective: Ambulatory blood pressure (BP) monitoring allows concurrent evaluation of BP control and nocturnal BP dipping status, both related to adverse outcomes. However, few studies have assessed the prognostic role of combining information on dipping status and achieved ambulatory BP in patients with chronic kidney disease (CKD).

Study Design: Prospective observational cohort study.

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Background: Early identification of individuals at high risk for alcohol use disorder (AUD) coupled with prompt interventions could reduce the incidence of AUD. In this study, we investigated whether Polygenic Risk Scores (PRS) can be used to evaluate the risk for AUD and AUD severity (as measured by the number of DSM-5 AUD diagnostic criteria met) and compared their performance with a measure of family history of AUD.

Methods: We studied individuals of European ancestry from the Collaborative Study on the Genetics of Alcoholism (COGA).

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Background: Little is known about how screening facilities are meeting the requirements for the reimbursement of lung cancer screening from the Centers for Medicare & Medicaid Services (CMS), including 1) the collection and submission of data to the CMS-approved registry (American College of Radiology [ACR] Lung Cancer Screening Registry), 2) the verification of a counseling and shared decision-making (SDM) visit having occurred as part of the written order for lung cancer screening with low-dose computed tomography, and 3) the offering of smoking cessation interventions.

Methods: The authors identified facilities in a southwestern state that were listed by either the ACR Lung Cancer Screening Registry or the GO2 Foundation Centers of Excellence. To select facilities, they used 2 purposive sampling approaches: maximum variation sampling and snowball sampling.

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Juvenile Hallux Valgus.

Foot Ankle Clin

December 2021

Department of Orthopaedics, Rady Children's Hospital, UC San Diego Medical School, 3020 Children's Way, MC 5062, San Diego, CA 92123, USA.

Treatment of juvenile hallux valgus can be challenging. Initial treatment with conservative measures is appropriate until exhausted. Surgical treatment should be delayed until after skeletal maturity when possible.

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Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.

Am J Hum Genet

October 2021

Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address:

Article Synopsis
  • * A study found important genetic variants in the LONP1 and ALYREF genes, with LONP1 showing a significant role in CDH risk through both new and rare inherited mutations.
  • * Research on mice lacking Lonp1 revealed severe lung issues, supporting the gene's critical role in lung development and the associated high mortality in CDH cases.
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Psoriatic arthritis (PsA) is a complex inflammatory disease with heterogeneous clinical features, which complicates psoriasis in 30% of patients. There are no diagnostic criteria or tests available. Diagnosis is most commonly made by identifying inflammatory musculoskeletal features in joints, entheses or the spine in the presence of skin and/or nail psoriasis and in the usual absence of rheumatoid factor and anti-cyclic citrullinated peptide.

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Background: It is unknown whether faster progression of chronic kidney disease (CKD) in men than in women relates to differences in ambulatory blood pressure (ABP) levels.

Methods: We prospectively evaluated 906 hypertensive CKD patients (553 men) regularly followed in renal clinics to compare men versus women in terms of ABP control [daytime <135/85 and nighttime blood pressure (BP) <120/70 mmHg] and risk of all-cause mortality and end-stage kidney disease (ESKD).

Results: Age, estimated glomerular filtration rate and use of renin-angiotensin system inhibitors were similar in men and women, while proteinuria was lower in women [0.

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