PubMed Health⌕ Search

Biomedical subjects

Al Ozonoff

Publications and source records attributed to Al Ozonoff.

10 recordsLinked to original sources

Scalable near-real-time Bayesian phylogenetics for outbreaks with Delphy.

Pathogen genomic analysis is central to tracking, understanding and containing outbreaks1-13, but the complexity and cost of state-of-the-art phylogenetic tools limit global access and impact. Here we introduce Delphy, an exact reformulation of Bayesian phylogenetics14-17 designed to transform its speed, scalability and accessibility while retaining Bayesian state-of-the-art accuracy. Delphy's central data structure, an explicit mutation-annotated tree, takes advantage of the high sequence similarity of large-scale epidemic datasets18-20 for efficient tree exploration and convergence. By reproducing key analyses from recent major epidemics, including Ebola1,21, Zika2, SARS-CoV-2 (ref. 22), mpox3,4 and H5N1 (refs. 23,24), we demonstrate state-of-the-art accuracy with up to 2-3 orders of magnitude improvements in speed. Assessing Delphy's scalability, we show that a simulated dataset of 100,000 sequences can be analysed within a day. We distribute Delphy as a client-side web application that enables local, interactive analysis of raw data on the user's machine. Delphy automatically identifies key viral lineages and mutations, as well as their emergence and prevalence through time, with quantified uncertainties grounded in Bayesian theory. Delphy establishes Bayesian phylogenetics as a fast, accessible frontline tool for future outbreak response.

Journal Article↗

High-affinity CD16A polymorphism associated with reduced risk ofsevere COVID-19.

CD16A is an activating Fc receptor on NK cells that mediates antibody-dependent cellular cytotoxicity (ADCC), a key mechanism in antiviral immunity. However, the role of NK cell-mediated ADCC in SARS-CoV-2 infection remains unclear, particularly whether it limits viral spread and disease severity or contributes to the immunopathogenesis of COVID-19. We hypothesized that the high-affinity CD16AV176 polymorphism influences these outcomes. Using an in vitro reporter system, we demonstrated that CD16AV176 is a more potent and sensitive activator than the common CD16AF176 allele. To assess its clinical relevance, we analyzed 1,027 patients hospitalized with COVID-19 from the Immunophenotyping Assessment in a COVID-19 cohort (IMPACC), a comprehensive longitudinal dataset with extensive transcriptomic, proteomic, and clinical data. The high-affinity CD16AV176 allele was associated with a significantly reduced risk of ICU admission, mechanical ventilation, and severe disease trajectories. Lower anti-SARS-CoV-2 IgG titers were correlated to CD16AV176; however, there was no difference in viral load across CD16A genotypes. Proteomic analysis revealed that participants homozygous for CD16AV176 had lower levels of inflammatory mediators. These findings suggest that CD16AV176 enhances early NK cell-mediated immune responses, limiting severe respiratory complications in COVID-19. This study identifies a protective genetic factor against severe COVID-19, informing future host-directed therapeutic strategies.

Humans↗

Screening and brief intervention online for college students: the ihealth study.

AIMS: To test the feasibility of online alcohol screening and brief intervention (BI) by comparing (i) two approaches to inviting all students to be screened, and (ii) a minimal versus a more extensive BI. METHODS: Freshmen students at one university were randomized to receive one of two types of email invitations to an online anonymous: (i) general health assessment, or (ii) alcohol-specific assessment. All were linked to the same alcohol screening survey. Those with unhealthy alcohol use (AUDIT >or=8) were randomly assigned to minimal or more extensive online alcohol BI. RESULTS: In both invitation groups (4008 students), 55% of students completed the online screening. Overall, 37% of men and 26% of women had unhealthy alcohol use. Compared to minimal BI, more extensive BI was associated with intention to seek help among men and with a greater increase in readiness to change among women. One month after BI, 75% of students completed another assessment, 33% of women and 15% of men with unhealthy alcohol use at baseline no longer had unhealthy alcohol use. There were no significant differences on drinking measures by BI randomization group. CONCLUSIONS: Over half of an entire freshman class of college students were reached by email and completed alcohol screening and brief intervention. Even an alcohol-specific invitation did not deter students. Although brief interventions that differed had some gender specific effects on readiness to change and intention, in general, unhealthy alcohol use decreased after brief intervention. Web screening and brief intervention show promise for addressing unhealthy alcohol use by college students.

Adolescent↗

Cognitive correlates of HVOT performance differ between individuals with mild cognitive impairment and normal controls.

OBJECTIVE: To clinically characterize performance on the Hooper Visual Organization Test (HVOT) among participants with mild cognitive impairment (MCI) and to identify naming and executive functioning correlates associated with HVOT performance among MCI participants and normal controls (NC). BACKGROUND: The HVOT is a common neuropsychological instrument that measures visuospatial skills and agnosia. It has, however, been criticized for its multifactorial nature, as several studies have reported executive or language correlates of HVOT performance. To our knowledge, simultaneous comparison of executive functioning and language demands of the HVOT has never been performed among an older cohort. METHODS: The HVOT, two tests of executive functioning [Trail Making Test, Part B (TMT-B), Controlled Oral Word Association (COWA)] and two tests of naming [abbreviated Boston Naming Test (BNT), Animal Naming] were administered to 222 NC, 166 MCI, and 68 Alzheimer's disease (AD) individuals. RESULTS: HVOT scores were significantly different between all three groups in the expected direction (AD<MCI<NC). Linear regression among NC participants revealed that COWA, age, and BNT were significantly associated with HVOT scores, accounting for 12%, 6%, and 4% of HVOT variance, respectively. Among MCI participants, the BNT accounted for 43% of HVOT variance. Neither TMT-B nor Animal Naming was a significant predictor for either group. CONCLUSION: Among NC participants, rapid word generation (i.e., COWA), a measure of executive functioning, is the most salient predictor of HVOT performance. In contrast, lexical retrieval (i.e., BNT) is the most salient language or executive functioning predictor of HVOT performance among MCI participants. These findings extend previous claims that the HVOT is multifactorial by suggesting that reduced HVOT performance in MCI patients may be related to mild lexical retrieval impairments.

Aged↗

Differentiation of hepatocellular carcinoma and hepatic metastasis from cysts and hemangiomas with calculated T2 relaxation times and the T1/T2 relaxation times ratio.

PURPOSE: To determine the diagnostic capability of the T1 and T2 relaxation times and the T1/T2 relaxation times ratio generated with the mixed turbo spin echo (mixed-TSE) pulse sequence, in order to discriminate between hepatocellular carcinoma (HCC)/metastases and hemangiomas/cysts. MATERIALS AND METHODS: A retrospective review of 36 MR examinations implementing the mixed-TSE pulse sequence demonstrated 70 focal hepatic lesions. Quantitative MR algorithms were used to generate T1 and T2 relaxation times, and the T1/T2 relaxation times ratio for each lesion. A two-sample t-test compared mean T1 and T2 relaxation times, and the T1/T2 relaxation times ratio, by lesion type: carcinoma/metastases and hemangiomas/cysts. Sensitivity and specificity for discriminating carcinoma/metastases from hemangiomas/cysts with T2 relaxation time thresholds of 112 and 125 msec, as well as a ratio of T1/T2 relaxation times of 5.8, were calculated. RESULTS: Using a T2 relaxation time threshold of 112 msec, 92% sensitivity and 100% specificity discriminating cysts/hemangiomas from HCC/liver metastasis was demonstrated. With a threshold of 125 msec, 96% sensitivity and 98% specificity was demonstrated. There was no correlation between calculated T1 relaxation times and type of lesion. Using a T1/T2 relaxation times ratio of 5.8, 100% sensitivity and specificity were demonstrated. CONCLUSION: Although there is high sensitivity and specificity associated with the use of T2 relaxation times alone to discriminate carcinoma/metastases from hemangiomas/cysts, using the T1/T2 relaxation times ratio threshold of 5.8 allowed proper classification of all lesions.

Algorithms↗

Evaluating elements of executive functioning as predictors of instrumental activities of daily living (IADLs).

OBJECTIVE: Executive functioning has been repeatedly linked to the integrity of instrumental activities of daily living (IADL). The present study examined the association of multiple executive functioning elements (i.e., working memory, generation, inhibition, planning, and sequencing) to IADLs among an older adult cohort at risk for future cognitive and functional decline. METHODS: Seventy-two participants with prevalent but stable cardiovascular disease completed a neuropsychological protocol assessing multiple elements of executive functioning, including COWA, PASAT, DKEFS Color-Word Interference Test, DKEFS Trail-Making Test, DKEFS Tower Test, and Ruff Figural Fluency Test. Reliable informants completed a measure of IADLs. RESULTS: Stepwise logistic regression selected a model involving a single significant predictor, a measure of inhibition (i.e., DKEFS Color-Word Interference Test), which had a significant regression coefficient. Subsequent correlation analyses confirmed an association between the inhibition measure and multiple IADL items. Inter-item comparisons among the IADLs revealed significant differences, such that telephone use and laundry were significantly more intact than most other IADLs while shopping and housekeeping were most compromised. CONCLUSIONS: Our data suggest that inhibition, also known as susceptibility to interference, is most strongly related to IADL impairment among patients at risk for future cognitive and functional decline.

Activities of Daily Living↗

Perforated versus nonperforated acute appendicitis: accuracy of multidetector CT detection.

PURPOSE: To retrospectively evaluate the accuracy of multidetector computed tomography (CT) in the diagnosis of perforated acute appendicitis by using surgery and pathologic examination combined as the reference standard. MATERIALS AND METHODS: The study was institutional review board approved and HIPAA compliant. Informed patient consent was waived. The authors retrospectively identified 244 patients (150 male, 94 female; mean age, 32.8 years; age range, 4-83 years) with pathologically proved acute appendicitis who underwent abdominopelvic multidetector CT. Two radiologists reviewed in consensus the multidetector CT images obtained in all patients for various findings that may be associated with appendiceal perforation. For continuous variables, a comparison of means between the perforated and nonperforated groups was performed by using the Wilcoxon rank sum test. For categorical variables, the sensitivity and specificity of each CT finding for the diagnosis of perforated appendicitis were determined. RESULTS: The CT findings of abscess (99%), extraluminal gas (98%), and ileus (93%) had the highest specificities for appendiceal perforation; however, the sensitivities of these findings were low: 34%, 35%, and 53%, respectively. The appendix was larger in patients with perforated appendicitis: The mean diameter was 15.1 mm compared with a mean diameter of 11.7 mm in patients with nonperforated appendicitis (P < .001). Appendicolith, free fluid, enlarged abdominal lymph nodes, and enhancement defect in the appendiceal wall were neither highly sensitive nor highly specific for the detection of perforation. CONCLUSION: Although certain multidetector CT findings are very specific for the diagnosis of perforated appendicitis, overall multidetector CT sensitivity is poor. Unless abscess or extraluminal gas is present, multidetector CT cannot enable the diagnosis of perforation.

Acute Disease↗

Cluster detection methods applied to the Upper Cape Cod cancer data.

BACKGROUND: A variety of statistical methods have been suggested to assess the degree and/or the location of spatial clustering of disease cases. However, there is relatively little in the literature devoted to comparison and critique of different methods. Most of the available comparative studies rely on simulated data rather than real data sets. METHODS: We have chosen three methods currently used for examining spatial disease patterns: the M-statistic of Bonetti and Pagano; the Generalized Additive Model (GAM) method as applied by Webster; and Kulldorff's spatial scan statistic. We apply these statistics to analyze breast cancer data from the Upper Cape Cancer Incidence Study using three different latency assumptions. RESULTS: The three different latency assumptions produced three different spatial patterns of cases and controls. For 20 year latency, all three methods generally concur. However, for 15 year latency and no latency assumptions, the methods produce different results when testing for global clustering. CONCLUSION: The comparative analyses of real data sets by different statistical methods provides insight into directions for further research. We suggest a research program designed around examining real data sets to guide focused investigation of relevant features using simulated data, for the purpose of understanding how to interpret statistical methods applied to epidemiological data with a spatial component.

Adult↗

Bivariate method for spatio-temporal syndromic surveillance.

INTRODUCTION: Statistical analysis of syndromic data has typically focused on univariate test statistics for spatial, temporal, or spatio-temporal surveillance. However, this approach does not take full advantage of the information available in the data. OBJECTIVES: A bivariate method is proposed that uses both temporal and spatial data information. METHODS: Using upper respiratory syndromic data from an eastern Massachusetts health-care provider, this paper illustrates a bivariate method and examines the power of this method to detect simulated clusters. RESULTS: Use of the bivariate method increases detection power. CONCLUSIONS: Syndromic surveillance systems should use all available information, including both spatial and temporal information.

Cluster Analysis↗

The IL12B gene is associated with asthma.

The IL12B gene on chromosome 5q31-33 encodes the p40 subunit of interleukin 12, an immunomodulatory cytokine. To test the hypothesis that the IL12B gene contains polymorphisms associated with asthma, we genotyped six haplotype-tagging polymorphisms in the IL12B gene, both in 708 children enrolled in the Childhood Asthma Management Program (CAMP) and in their parents. Using the family-based association test (FBAT) program and its haplotype (HBAT) and phenotype (PBAT) options, we tested each polymorphism and haplotype for association with asthma and asthma-related phenotypes. We tested positive associations for replication in a case-control study comparing 177 adult moderate-to-severe asthmatics with 177 nonasthmatic controls. In whites in the CAMP cohort, the A allele of the IL12B G4237A polymorphism was undertransmitted to asthmatic children (P=.0008, recessive model), the global test for haplotypes for affection status was positive (P=.009, multiallelic chi (2)), and two polymorphisms were associated with different atopy phenotypes. In addition, we found a strong association between the IL12B_4237 and IL12B_6402 polymorphisms and an asthma-severity phenotype in whites, which we also found in the independent population of white adult asthmatics. IL12B may be an important asthma gene.

Adult↗