Last data update: Apr 22, 2024. (Total: 46599 publications since 2009)
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Query Trace: Thomas J [original query] |
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Implications of measles inclusion by commercial syndromic polymerase chain reaction panels - United States, May 2022-April 2023
Thomas CM , Hartley A , Schmitz A , Reid HD , Sullivan S , Huebner E , Robinson M , Mathis A , Fill MA , Levinson KJ , Jones TF , Schaffner W , Newhouse CN , Dunn JR . MMWR Morb Mortal Wkly Rep 2024 73 (12) 260-264 Syndromic polymerase chain reaction (PCR) panels are used to test for pathogens that can cause rash illnesses, including measles. Rash illnesses have infectious and noninfectious causes, and approximately 5% of persons experience a rash 7-10 days after receipt of a measles, mumps, and rubella (MMR) vaccine. MMR vaccine includes live attenuated measles virus, which is detectable by PCR tests. No evidence exists of person-to-person transmission of measles vaccine virus, and illness does not typically result among immunocompetent persons. During September 2022-January 2023, the Tennessee Department of Health received two reports of measles detected by syndromic PCR panels. Both reports involved children (aged 1 and 6 years) without known risk factors for measles, who were evaluated for rash that occurred 11-13 days after routine MMR vaccination. After public health responses in Tennessee determined that both PCR panels had detected measles vaccine virus, six state health departments collaborated to assess the frequency and characteristics of persons receiving a positive measles PCR panel test result in the United States. Information was retrospectively collected from a commercial laboratory testing for measles in syndromic multiplex PCR panels. During May 2022-April 2023, among 1,548 syndromic PCR panels, 17 (1.1%) returned positive test results for measles virus. Among 14 persons who received a positive test result and for whom vaccination and case investigation information were available, all had received MMR vaccine a median of 12 days before specimen collection, and none had known risk factors for acquiring measles. All positive PCR results were attributed to detection of measles vaccine virus. Increased awareness among health care providers about potential measles detection by PCR after vaccination is needed. Any detection of measles virus by syndromic PCR testing should be immediately reported to public health agencies, which can use measles vaccination history and assessment of risk factors to determine the appropriate public health response. If a person recently received MMR vaccine and has no risk factors for acquiring measles, additional public health response is likely unnecessary. |
Correction and Republication: Symptoms of Depression, Anxiety, Post-Traumatic Stress Disorder, and Suicidal Ideation Among State, Tribal, Local, and Territorial Public Health Workers During the COVID-19 Pandemic - United States, March-April 2021
Bryant-Genevier J , Rao CY , Lopes-Cardozo B , Kone A , Rose C , Thomas I , Orquiola D , Lynfield R , Shah D , Freeman L , Becker S , Williams A , Gould DW , Tiesman H , Lloyd G , Hill L , Byrkit R . MMWR Morb Mortal Wkly Rep 12/28/2021 70 (48) 1679 On July 2, 2021, MMWR published “Symptoms of Depression, Anxiety, Post-Traumatic Stress Disorder, and Suicidal Ideation Among State, Tribal, Local, and Territorial Public Health Workers During the COVID-19 Pandemic — United States, March–April 2021” (1). On October 12, 2021, the authors informed MMWR that some data were inaccurate because 420 incomplete participant responses were incorrectly assigned scores for depression. This error resulted in a change in overall depression prevalence from 32.0% to 30.8%, and other similar changes in stratified prevalences of depression, prevalence ratios of depression, and the overall proportion of respondents who reported at least one mental health condition. The authors have corrected the MMWR report by excluding the 420 records from the depression analysis and confirmed that the interpretation and the conclusions of the original report were not affected by these corrections. MMWR has republished the report (2), which includes the original report with clearly marked corrections in supplementary materials. |
Estimating causes of death where there is no medical certification: evolution and state of the art of verbal autopsy
Chandramohan D , Fottrell E , Leitao J , Nichols E , Clark SJ , Alsokhn C , Cobos Munoz D , AbouZahr C , Di Pasquale A , Mswia R , Choi E , Baiden F , Thomas J , Lyatuu I , Li Z , Larbi-Debrah P , Chu Y , Cheburet S , Sankoh O , Mohamed Badr A , Fat DM , Setel P , Jakob R , de Savigny D . Glob Health Action 12/28/2021 14 1982486 Over the past 70 years, significant advances have been made in determining the causes of death in populations not served by official medical certification of cause at the time of death using a technique known as Verbal Autopsy (VA). VA involves an interview of the family or caregivers of the deceased after a suitable bereavement interval about the circumstances, signs and symptoms of the deceased in the period leading to death. The VA interview data are then interpreted by physicians or, more recently, computer algorithms, to assign a probable cause of death. VA was originally developed and applied in field research settings. This paper traces the evolution of VA methods with special emphasis on the World Health Organization's (WHO)'s efforts to standardize VA instruments and methods for expanded use in routine health information and vital statistics systems in low- and middle-income countries (LMICs). These advances in VA methods are culminating this year with the release of the 2022 WHO Standard Verbal Autopsy (VA) Toolkit. This paper highlights the many contributions the late Professor Peter Byass made to the current VA standards and methods, most notably, the development of InterVA, the most commonly used automated computer algorithm for interpreting data collected in the WHO standard instruments, and the capacity building in low- and middle-income countries (LMICs) that he promoted. This paper also provides an overview of the methods used to improve the current WHO VA standards, a catalogue of the changes and improvements in the instruments, and a mapping of current applications of the WHO VA standard approach in LMICs. It also provides access to tools and guidance needed for VA implementation in Civil Registration and Vital Statistics Systems at scale. |
Prevention of zoonotic spillover: From relying on response to reducing the risk at source
Wanda M , Thomas CM , Wiku BA , Salama A , Casey BB , Pépé B , Salome AB , Natalia C , Natalia CB , Dominique FC , Abhishek C , Janice RCZ , Andrew AC , Osman D , Nitish D , Baptiste D , Elmoubasher F , George FG , David TSH , Margaret K , Marion PGK , Catherine M , John SM , Serge M , Vyacheslav S , Zhou L , Giraudoux P . PLoS Pathog 2023 19 (10) e1011504 |
American Indian and Alaska Native violence prevention efforts: a systematic review, 1980 to 2018
Rollman JE , Thomas M , Mercer Kollar LM , Ports KA , Clelland C , Satter DE , David-Ferdon C . Inj Epidemiol 2024 8 72 BACKGROUND: Violence is a serious public health concern disproportionately experienced by American Indian and Alaska Native (AIAN) people. While the burden and impact of violence may be explained by the presence of risk factors among this group, AIAN communities benefit from unique protective factors and universal strategies which may be tailored with tribal adaptations. We sought to identify and explore violence prevention strategies specific to AIAN populations. METHODS: A review was conducted to systematically identify violence prevention programs, policies, and practices implemented in AIAN communities. We searched nine electronic databases and relevant gray literature released between January 1980 and June 2018. We included intervention-focused records targeting at least one violence topic area (child abuse/neglect, elder abuse, intimate partner violence, sexual violence, youth violence, and suicide) in a majority (> 50%) AIAN population. RESULTS: A total of 5220 non-duplicate records were screened, yielding 318 full-text records. After applying exclusion criteria, 57 records describing 60 program, policy, or practice implementations of 43 unique interventions were identified. All six violence types were represented, although more than half (58%; n = 25/43) focused on suicide prevention. Among suicide prevention programs, the most common strategies were identifying and supporting people at risk (80%; n = 20), teaching coping and problem-solving skills (56%; n = 14), and promoting connectedness (48%; n = 12). Two-thirds of the implementations (67%; n = 40/60) were in fully (100%) AIAN communities. Programs were implemented across many settings, though schools were the most common (35%, n = 21/60) setting. Of the 60 total implementations, a majority (80%; n = 48) were new approaches developed by and for AIAN communities, while the remainder were AIAN adaptations of programs previously created for non-AIAN populations. Most implementations (60%; n = 36/60) provided some evaluation data although less than half (45%; n = 27/60) reported evaluation results. CONCLUSIONS: This review identified many violence prevention strategies specific to AIAN populations. While programs developed in one tribe may not be completely generalizable to others, shared tribal risk and protective factors suggest programs could be successful across diverse communities. Findings indicate there is a need to develop and evaluate violence prevention programs, policies and practices for AIAN populations. |
Racial and ethnic differences in social determinants of health and health-related social needs among adults - Behavioral Risk Factor Surveillance System, United States, 2022
Town M , Eke P , Zhao G , Thomas CW , Hsia J , Pierannunzi C , Hacker K . MMWR Morb Mortal Wkly Rep 2024 73 (9) 204-208 Social determinants of health (SDOH) are a broad array of social and contextual conditions where persons are born, live, learn, work, play, worship, and age that influence their physical and mental wellbeing and quality of life. Using 2022 Behavioral Risk Factor Surveillance System data, this study assessed measures of adverse SDOH and health-related social needs (HRSN) among U.S. adult populations. Measures included life satisfaction, social and emotional support, social isolation or loneliness, employment stability, food stability/security, housing stability/security, utility stability/security, transportation access, mental well-being, and health care access. Prevalence ratios were adjusted for age, sex, education, marital status, income, and self-rated health. Social isolation or loneliness (31.9%) and lack of social and emotional support (24.8%) were the most commonly reported measures, both of which were more prevalent among non-Hispanic (NH) American Indian or Alaska Native, NH Black or African American, NH Native Hawaiian or other Pacific Islander, NH multiracial, and Hispanic or Latino adults than among NH White adults. The majority of prevalence estimates for other adverse SDOH and HRSN were also higher across all other racial and ethnic groups (except for NH Asian) compared with NH White adults. SDOH and HRSN data can be used to monitor needed social and health resources in the U.S. population and help evaluate population-scale interventions. |
Prevalence and risk factors for Q fever, spotted fever group rickettsioses, and typhus group rickettsioses in a pastoralist community of northern Tanzania, 2016-2017
Moorthy GS , Rubach MP , Maze MJ , Refuerzo RP , Shirima GM , Lukambagire AS , Bodenham RF , Cash-Goldwasser S , Thomas KM , Sakasaka P , Mkenda N , Bowhay TR , Perniciaro JL , Nicholson WL , Kersh GJ , Kazwala RR , Mmbaga BT , Buza JJ , Maro VP , Haydon DT , Crump JA , Halliday JEB . Trop Med Int Health 2024 BACKGROUND: In northern Tanzania, Q fever, spotted fever group (SFG) rickettsioses, and typhus group (TG) rickettsioses are common causes of febrile illness. We sought to describe the prevalence and risk factors for these zoonoses in a pastoralist community. METHODS: Febrile patients ≥2 years old presenting to Endulen Hospital in the Ngorongoro Conservation Area were enrolled from August 2016 through October 2017. Acute and convalescent blood samples were collected, and a questionnaire was administered. Sera were tested by immunofluorescent antibody (IFA) IgG assays using Coxiella burnetii (Phase II), Rickettsia africae, and Rickettsia typhi antigens. Serologic evidence of exposure was defined by an IFA titre ≥1:64; probable cases by an acute IFA titre ≥1:128; and confirmed cases by a ≥4-fold rise in titre between samples. Risk factors for exposure and acute case status were evaluated. RESULTS: Of 228 participants, 99 (43.4%) were male and the median (interquartile range) age was 27 (16-41) years. Among these, 117 (51.3%) had C. burnetii exposure, 74 (32.5%) had probable Q fever, 176 (77.2%) had SFG Rickettsia exposure, 134 (58.8%) had probable SFG rickettsioses, 11 (4.8%) had TG Rickettsia exposure, and 4 (1.8%) had probable TG rickettsioses. Of 146 participants with paired sera, 1 (0.5%) had confirmed Q fever, 8 (5.5%) had confirmed SFG rickettsioses, and none had confirmed TG rickettsioses. Livestock slaughter was associated with acute Q fever (adjusted odds ratio [OR] 2.54, 95% confidence interval [CI] 1.38-4.76) and sheep slaughter with SFG rickettsioses case (OR 4.63, 95% CI 1.08-23.50). DISCUSSION: Acute Q fever and SFG rickettsioses were detected in participants with febrile illness. Exposures to C. burnetii and to SFG Rickettsia were highly prevalent, and interactions with livestock were associated with increased odds of illness with both pathogens. Further characterisation of the burden and risks for these diseases is warranted. |
Redefining pandemic preparedness: Multidisciplinary insights from the CERP modelling workshop in infectious diseases, workshop report
Nunes MC , Thommes E , Fröhlich H , Flahault A , Arino J , Baguelin M , Biggerstaff M , Bizel-Bizellot G , Borchering R , Cacciapaglia G , Cauchemez S , Barbier-Chebbah A , Claussen C , Choirat C , Cojocaru M , Commaille-Chapus C , Hon C , Kong J , Lambert N , Lauer KB , Lehr T , Mahe C , Marechal V , Mebarki A , Moghadas S , Niehus R , Opatowski L , Parino F , Pruvost G , Schuppert A , Thiébaut R , Thomas-Bachli A , Viboud C , Wu J , Crépey P , Coudeville L . Infect Dis Model 2024 9 (2) 501-518 In July 2023, the Center of Excellence in Respiratory Pathogens organized a two-day workshop on infectious diseases modelling and the lessons learnt from the Covid-19 pandemic. This report summarizes the rich discussions that occurred during the workshop. The workshop participants discussed multisource data integration and highlighted the benefits of combining traditional surveillance with more novel data sources like mobility data, social media, and wastewater monitoring. Significant advancements were noted in the development of predictive models, with examples from various countries showcasing the use of machine learning and artificial intelligence in detecting and monitoring disease trends. The role of open collaboration between various stakeholders in modelling was stressed, advocating for the continuation of such partnerships beyond the pandemic. A major gap identified was the absence of a common international framework for data sharing, which is crucial for global pandemic preparedness. Overall, the workshop underscored the need for robust, adaptable modelling frameworks and the integration of different data sources and collaboration across sectors, as key elements in enhancing future pandemic response and preparedness. |
Hyperlocal lessons from the COVID-19 pandemic: Toward an equity-centered implementation science approach
Manns BJ , Thomas S , Farinu O , Woolfork M , Walker CL . Soc Sci Humanit Open 2024 9 COVID-19 vaccination campaigns across the US were implemented to mitigate the disproportionate hospitalizations and unnecessary deaths across many communities that experienced unequal gaps in initial vaccine distribution rollout and uptake. In parallel, the COVID-19 pandemic created declines in routine vaccination coverage for adults, adolescents, and children; particularly, in communities experiencing overlapping social disadvantage. Community-based efforts offer a solution to narrow immunization gaps but have not been replicated consistently nor demonstrated widespread success during the pandemic as evidenced by prevailing disparities in immunization uptake. We offer an equity centered implementation science approach that involves co-designing, co-implementing, and co-evaluating solutions with the community and all partners investing in the shared goal of sustainable improvement in health outcomes. © 2024 |
COVID-19 disease burden, vaccine uptake, and workplace disease prevention efforts in temporary agricultural workers in the US. (Movilidad, migracion y salud en el contexto de la pandemia por Covid-19.)
Boggess B , Thomas H , Ruiz J , Mandujano-Acevedo N , Rodriguez-Lainz A . Salud Publica Mex 2024 66 (2) 119-129 Objective. To compare Covid-19 risk factors, self-reported Covid-19 testing and infection, and Covid-19 vaccination among H-2A workers and agricultural workers without H-2A visas. Materials and methods. Farmworkers completed surveys at randomly selected sites in five U.S. states from March - August 2022. Descriptive statistics and bivariate analyses were conducted for key characteristics and outcomes. Results. A total of 532 H-2A workers and 748 non-H-2A workers participated in the surveys. H-2A workers had significantly higher Covid-19 primary vaccine series uptake than non-H-2A workers (94.7 vs. 65.9%). More than one in four H-2A workers (29.6%) continued working while ill or positive with Covid-19. Fewer H-2A than non-H-2A workers reported receiving a Covid-19 test (51.5 vs. 59.2%, respectively) and a positive test result for Covid-19 (24.5 vs. 44.9% among those tested). Conclusions. Although H-2A workers had a lower self-reported prevalence of Covid-19 and higher Covid-19 primary vaccine series uptake than non-H-2A workers, findings such as reporting to work while ill or positive for Covid-19 indicate areas for improvement by binational public health leaders. |
Pulmonary evaluation of whole-body inhalation exposure of polycarbonate (PC) filament 3D printer emissions in rats
Farcas MT , McKinney W , Mandler WK , Knepp AK , Battelli L , Friend SA , Stefaniak AB , Service S , Kashon M , LeBouf RF , Thomas TA , Matheson J , Qian Y . J Toxicol Environ Health A 2024 87 (8) 325-341 During fused filament fabrication (FFF) 3D printing with polycarbonate (PC) filament, a release of ultrafine particles (UFPs) and volatile organic compounds (VOCs) occurs. This study aimed to determine PC filament printing emission-induced toxicity in rats via whole-body inhalation exposure. Male Sprague Dawley rats were exposed to a single concentration (0.529 mg/m(3), 40 nm mean diameter) of the 3D PC filament emissions in a time-course via whole body inhalation for 1, 4, 8, 15, and 30 days (4 hr/day, 4 days/week), and sacrificed 24 hr after the last exposure. Following exposures, rats were assessed for pulmonary and systemic responses. To determine pulmonary injury, total protein and lactate dehydrogenase (LDH) activity, surfactant proteins A and D, total as well as lavage fluid differential cells in bronchoalveolar lavage fluid (BALF) were examined, as well as histopathological analysis of lung and nasal passages was performed. To determine systemic injury, hematological differentials, and blood biomarkers of muscle, metabolic, renal, and hepatic functions were also measured. Results showed that inhalation exposure induced no marked pulmonary or systemic toxicity in rats. In conclusion, inhalation exposure of rats to a low concentration of PC filament emissions produced no significant pulmonary or systemic toxicity. |
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM , Parisi MA , Acosta PB , Berry GT , Bilder DA , Blau N , Bodamer OA , Brosco JP , Brown CS , Burlina AB , Burton BK , Chang CS , Coates PM , Cunningham AC , Dobrowolski SF , Ferguson JH , Franklin TD , Frazier DM , Grange DK , Greene CL , Groft SC , Harding CO , Howell RR , Huntington KL , Hyatt-Knorr HD , Jevaji IP , Levy HL , Lichter-Konecki U , Lindegren ML , Lloyd-Puryear MA , Matalon K , MacDonald A , McPheeters ML , Mitchell JJ , Mofidi S , Moseley KD , Mueller CM , Mulberg AE , Nerurkar LS , Ogata BN , Pariser AR , Prasad S , Pridjian G , Rasmussen SA , Reddy UM , Rohr FJ , Singh RH , Sirrs SM , Stremer SE , Tagle DA , Thompson SM , Urv TK , Utz JR , van Spronsen F , Vockley J , Waisbren SE , Weglicki LS , White DA , Whitley CB , Wilfond BS , Yannicelli S , Young JM . Mol Genet Metab 2014 112 (2) 87-122 New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 μmol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 μmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Conference, the conference itself, and the identification of a research agenda have facilitated the development of clinical practice guidelines by professional organizations and serve as a model for other inborn errors of metabolism. |
Transcontinental movement of Asian genotype chikungunya virus.
Lanciotti RS , Valadere AM . Emerg Infect Dis 2014 20 (8) 1400-2 Chikungunya virus (CHIKV), a mosquito–transmitted virus (family Togaviridae, genus Alphavirus), was first isolated >60 years ago in Africa and is responsible for epidemics of acute polyarthralgia. During CHIKV epidemics, the transmission cycle is from humans to mosquitoes, with no intervening amplifying host, and the virus can rapidly disseminate, infecting large numbers of persons. Epidemics have been described in Africa, the Middle East, Europe, India, and Southeast Asia. On the basis of detailed clinical descriptions of the disease, chikungunya fever, it appears that CHIKV caused epidemics in the Caribbean (St. Thomas, US Virgin Islands) and the southeastern coastal United States during the early 19th century (1). | | Genetic studies show that the virus has evolved into 3 distinct genotypes: West African, East/Central/South African (ECSA), and Asian (2). The genotypes likely indicate independent evolution of the virus in historically isolated areas. Phenotypic differences have been described between genotypes and between individual strains, most notably an E1 mutation among some ECSA strains, which facilitates replication in Aedes albopictus mosquitoes (3). However, more recently, the movement of virus genotypes has increased dramatically, probably as a direct result of increased movement of humans and increased commercial trade. Beginning in 2005 and through 2006, the ECSA genotype virus was responsible for an explosive epidemic, during which the virus moved from coastal Kenya to islands adjacent to southeastern Africa and then to India, where >1 million cases were recorded (2). During this time, imported cases were reported worldwide, and in some instances, autochthonous transmission was detected in distal locations (4,5). |
Genomic DNA methylation changes in response to folic acid supplementation in a population-based intervention study among women of reproductive age.
Crider KS , Quinlivan EP , Berry RJ , Hao L , Li Z , Maneval D , Yang TP , Rasmussen SA , Yang Q , Zhu JH , Hu DJ , Bailey LB . PLoS One 2011 6 (12) e28144 Folate is a source of one-carbons necessary for DNA methylation, a critical epigenetic modification necessary for genomic structure and function. The use of supplemental folic acid is widespread however; the potential influence on DNA methylation is unclear. We measured global DNA methylation using DNA extracted from samples from a population-based, double-blind randomized trial of folic acid supplementation (100, 400, 4000 µg per day) taken for 6 months; including a 3 month post-supplementation sample. We observed no changes in global DNA methylation in response to up to 4,000 µg/day for 6 months supplementation in DNA extracted from uncoagulated blood (approximates circulating blood). However, when DNA methylation was determined in coagulated samples from the same individuals at the same time, significant time, dose, and MTHFR genotype-dependent changes were observed. The baseline level of DNA methylation was the same for uncoagulated and coagulated samples; marked differences between sample types were observed only after intervention. In DNA from coagulated blood, DNA methylation decreased (-14%; P<0.001) after 1 month of supplementation and 3 months after supplement withdrawal, methylation decreased an additional 23% (P<0.001) with significant variation among individuals (max+17%; min-94%). Decreases in methylation of ≥25% (vs. <25%) after discontinuation of supplementation were strongly associated with genotype: MTHFR CC vs. TT (adjusted odds ratio [aOR] 12.9, 95%CI 6.4, 26.0). The unexpected difference in DNA methylation between DNA extracted from coagulated and uncoagulated samples in response to folic acid supplementation is an important finding for evaluating use of folic acid and investigating the potential effects of folic acid supplementation on coagulation. |
Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role.
Crider KS , Yang TP , Berry RJ , Bailey LB . Adv Nutr 2012 3 (1) 21-38 DNA methylation is an epigenetic modification critical to normal genome regulation and development. The vitamin folate is a key source of the one carbon group used to methylate DNA. Because normal mammalian development is dependent on DNA methylation, there is enormous interest in assessing the potential for changes in folate intake to modulate DNA methylation both as a biomarker for folate status and as a mechanistic link to developmental disorders and chronic diseases including cancer. This review highlights the role of DNA methylation in normal genome function, how it can be altered, and the evidence of the role of folate/folic acid in these processes. |
Using statistical methods and genotyping to detect tuberculosis outbreaks.
Kammerer JS , Shang N , Althomsons SP , Haddad MB , Grant J , Navin TR . Int J Health Geogr 2013 12 15 BACKGROUND: Early identification of outbreaks remains a key component in continuing to reduce the burden of infectious disease in the United States. Previous studies have applied statistical methods to detect unexpected cases of disease in space or time. The objectives of our study were to assess the ability and timeliness of three spatio-temporal methods to detect known outbreaks of tuberculosis. METHODS: We used routinely available molecular and surveillance data to retrospectively assess the effectiveness of three statistical methods in detecting tuberculosis outbreaks: county-based log-likelihood ratio, cumulative sums, and a spatial scan statistic. RESULTS: Our methods identified 8 of the 9 outbreaks, and 6 outbreaks would have been identified 1-52 months (median=10 months) before local public health authorities identified them. Assuming no delays in data availability, 46 (59.7%) of the 77 patients in the 9 outbreaks were identified after our statistical methods would have detected the outbreak but before local public health authorities became aware of the problem. CONCLUSIONS: Statistical methods, when applied retrospectively to routinely collected tuberculosis data, can successfully detect known outbreaks, potentially months before local public health authorities become aware of the problem. The three methods showed similar results; no single method was clearly superior to the other two. Further study to elucidate the performance of these methods in detecting tuberculosis outbreaks will be done in a prospective analysis. |
Lessons learned from implementation of Mpox surveillance during an outbreak response in Tennessee, 2022
Thomas CM , Shaffner J , Johnson R , Wiedeman C , Fill MA , Jones TF , Schaffner W , Dunn JR . Public Health Rep 2024 333549231223710 OBJECTIVES: Mpox surveillance was integral during the 2022 outbreak response. We evaluated implementation of mpox surveillance in Tennessee during an outbreak response and made recommendations for surveillance during emerging infectious disease outbreaks. METHODS: To understand surveillance implementation, system processes, and areas for improvement, we conducted 8 semistructured focus groups and 7 interviews with 36 health care, laboratory, and health department representatives during September 9-20, 2022. We categorized and analyzed session transcription and notes. We analyzed completeness and timeliness of surveillance data, including 349 orthopoxvirus-positive laboratory reports from commercial, public health, and health system laboratories during July 1-August 31, 2022. RESULTS: Participants described an evolving system and noted that existing informatics platforms inefficiently supported iterations of reporting requirements. Clear communication, standardization of terminology, and shared, adaptable, and user-friendly informatics platforms were prioritized for future emerging infectious disease surveillance systems. Laboratory-reported epidemiologic information was often incomplete; only 55% (191 of 349) of reports included patient address and telephone number. The median time from symptom onset to specimen collection was 5 days (IQR, 3-6 d), from specimen collection to laboratory reporting was 3 days (IQR, 1-4 d), from laboratory reporting to patient interview was 1 day (IQR, 1-3 d), and from symptom onset to patient interview was 9 days (IQR, 7-12 d). CONCLUSIONS: Future emerging infectious disease responses would benefit from standardized surveillance approaches that facilitate rapid implementation. Closer collaboration among informatics, laboratory, and clinical partners across jurisdictions and agencies in determining system priorities and designing workflow processes could improve flexibility of the surveillance platform and completeness and timeliness of laboratory reporting. Improved timeliness will facilitate public health response and intervention, thereby mitigating morbidity. |
Substantial but spatially heterogeneous progress in male circumcision for HIV prevention in South Africa
Thomas ML , Zuma K , Loykissoonlal D , Dube ZB , Vranken P , Porter SE , Kripke K , Seatlhodi T , Meyer-Rath G , Johnson LF , Imai-Eaton JW . Commun Med (Lond) 2024 4 (1) 1 BACKGROUND: Voluntary medical male circumcision (VMMC) reduces the risk of male HIV acquisition by 60%. Programmes to provide VMMCs for HIV prevention have been introduced in sub-Saharan African countries with high HIV burden. Traditional circumcision is also a long-standing male coming-of-age ritual, but practices vary considerably across populations. Accurate estimates of circumcision coverage by age, type, and time at subnational levels are required for planning and delivering VMMCs to meet targets and evaluating their impacts on HIV incidence. METHODS: We developed a Bayesian competing risks time-to-event model to produce region-age-time-type specific probabilities and coverage of male circumcision with probabilistic uncertainty. The model jointly synthesises data from household surveys and health system data on the number of VMMCs conducted. We demonstrated the model using data from five household surveys and VMMC programme data to produce estimates of circumcision coverage for 52 districts in South Africa between 2008 and 2019. RESULTS: Nationally, in 2008, 24.1% (95% CI: 23.4-24.8%) of men aged 15-49 were traditionally circumcised and 19.4% (18.9-20.0%) were medically circumcised. Between 2010 and 2019, 4.25 million VMMCs were conducted. Circumcision coverage among men aged 15-49 increased to 64.0% (63.2-64.9%) and medical circumcision coverage to 42% (41.3-43.0%). Circumcision coverage varied widely across districts, ranging from 13.4 to 86.3%. The average age of traditional circumcision ranged between 13 and 19 years, depending on local cultural practices. CONCLUSION: South Africa has made substantial, but heterogeneous, progress towards increasing medical circumcision coverage. Detailed subnational information on coverage and practices can guide programmes to identify unmet need to achieve national and international targets. | Voluntary medical male circumcision reduces the risk of male HIV acquisition. Programmes to provide circumcisions for HIV prevention have been introduced in sub-Saharan African countries with high HIV burden. Estimates of circumcision coverage are needed for planning and delivering circumcisions to meet targets and evaluate their impacts on HIV incidence. We developed a model to integrate date from both household surveys and health systems on the number of circumcisions conducted, and applied it to understand how the practices and coverage of circumcision are changing in South Africa. National circumcision coverage increased considerably between 2008 and 2019, however, there remains a substantial subnational variation across districts and age groups. Further progress is needed to reach national and international targets. | eng |
Frequency of children diagnosed with perinatal hepatitis C, United States, 2018-2020
Newton SM , Woodworth KR , Chang D , Sizemore L , Wingate H , Pinckney L , Osinski A , Orkis L , Reynolds BD , Carpentieri C , Halai UA , Lyu C , Longcore N , Thomas N , Wills A , Akosa A , Olsen EO , Panagiotakopoulos L , Thompson ND , Gilboa SM , Tong VT . Emerg Infect Dis 2024 30 (1) 202-204 We describe hepatitis C testing of 47 (2%) of 2,266 children diagnosed with perinatal hepatitis C who were exposed during 2018-2020 in 7 jurisdictions in the United States. Expected frequency of perinatal transmission is 5.8%, indicating only one third of the cases in this cohort were reported to public health authorities. |
Concurrent transmission of multiple carbapenemases in a long-term acute-care hospital
Rankin DA , Walters MS , Caicedo L , Gable P , Moulton-Meissner HA , Chan A , Burks A , Edwards K , McAllister G , Kent A , Laufer Halpin A , Moore C , McLemore T , Thomas L , Dotson NQ , Chu AK . Infect Control Hosp Epidemiol 2024 1-10 OBJECTIVE: We investigated concurrent outbreaks of Pseudomonas aeruginosa carrying bla(VIM) (VIM-CRPA) and Enterobacterales carrying bla(KPC) (KPC-CRE) at a long-term acute-care hospital (LTACH A). METHODS: We defined an incident case as the first detection of bla(KPC) or bla(VIM) from a patient's clinical cultures or colonization screening test. We reviewed medical records and performed infection control assessments, colonization screening, environmental sampling, and molecular characterization of carbapenemase-producing organisms from clinical and environmental sources by pulsed-field gel electrophoresis (PFGE) and whole-genome sequencing. RESULTS: From July 2017 to December 2018, 76 incident cases were identified from 69 case patients: 51 had bla(KPC,) 11 had bla(VIM,) and 7 had bla(VIM) and bla(KPC). Also, bla(KPC) were identified from 7 Enterobacterales, and all bla(VIM) were P. aeruginosa. We observed gaps in hand hygiene, and we recovered KPC-CRE and VIM-CRPA from drains and toilets. We identified 4 KPC alleles and 2 VIM alleles; 2 KPC alleles were located on plasmids that were identified across multiple Enterobacterales and in both clinical and environmental isolates. CONCLUSIONS: Our response to a single patient colonized with VIM-CRPA and KPC-CRE identified concurrent CPO outbreaks at LTACH A. Epidemiologic and genomic investigations indicated that the observed diversity was due to a combination of multiple introductions of VIM-CRPA and KPC-CRE and to the transfer of carbapenemase genes across different bacteria species and strains. Improved infection control, including interventions that minimized potential spread from wastewater premise plumbing, stopped transmission. |
Association of chronic medical conditions with severe outcomes among nonpregnant adults 18-49 years old hospitalized with influenza, FluSurv-NET, 2011-2019
Famati EA , Ujamaa D , O'Halloran A , Kirley PD , Chai SJ , Armistead I , Alden NB , Yousey-Hindes K , Openo KP , Ryan PA , Monroe ML , Falkowski A , Kim S , Lynfield R , McMahon M , Angeles KM , Khanlian SA , Spina NL , Bennett NM , Gaitán MA , Shiltz E , Lung K , Thomas A , Talbot HK , Schaffner W , George A , Staten H , Bozio CH , Garg S . Open Forum Infect Dis 2023 10 (12) ofad599 BACKGROUND: Older age and chronic conditions are associated with severe influenza outcomes; however, data are only comprehensively available for adults ≥65 years old. Using data from the Influenza Hospitalization Surveillance Network (FluSurv-NET), we identified characteristics associated with severe outcomes in adults 18-49 years old hospitalized with influenza. METHODS: We included FluSurv-NET data from nonpregnant adults 18-49 years old hospitalized with laboratory-confirmed influenza during the 2011-2012 through 2018-2019 seasons. We used bivariate and multivariable logistic regression to determine associations between select characteristics and severe outcomes including intensive care unit (ICU) admission, invasive mechanical ventilation (IMV), and in-hospital death. RESULTS: A total of 16 140 patients aged 18-49 years and hospitalized with influenza were included in the analysis; the median age was 39 years, and 26% received current-season influenza vaccine before hospitalization. Obesity, asthma, and diabetes mellitus were the most common chronic conditions. Conditions associated with a significantly increased risk of severe outcomes included age group 30-39 or 40-49 years (IMV, age group 30-39 years: adjusted odds ratio [aOR], 1.25; IMV, age group 40-49 years: aOR, 1.36; death, age group 30-39 years: aOR, 1.28; death, age group 40-49 years: aOR, 1.69), being unvaccinated (ICU: aOR, 1.18; IMV: aOR, 1.25; death: aOR, 1.48), and having chronic conditions including extreme obesity and chronic lung, cardiovascular, metabolic, neurologic, or liver diseases (ICU: range aOR, 1.22-1.56; IMV: range aOR, 1.17-1.54; death: range aOR, 1.43-2.36). CONCLUSIONS: To reduce the morbidity and mortality associated with influenza among adults aged 18-49 years, health care providers should strongly encourage receipt of annual influenza vaccine and lifestyle/behavioral modifications, particularly among those with chronic medical conditions. |
Notes from the field: Transmission of Mpox to nonsexual close contacts - Two U.S. Jurisdictions, May 1-July 31, 2022
Thomas ES , Madewell ZJ , Still WL , Rowse J , Shapiro B , Gately E , Shaffner J , Mangla AT , Ricaldi JN . MMWR Morb Mortal Wkly Rep 2023 72 (50) 1351-1352 During the 2022 multinational mpox outbreak, U.S. mpox cases primarily occurred among adult gay, bisexual, and other men who have sex with men (1). Among all cases, 94% of patients reported exposure through sexual or other intimate contact (1). Currently, little is known about less common nonsexual mpox transmission. A systematic review of mpox transmission in countries with endemic mpox in Central Africa found that the secondary attack rate among unvaccinated household contacts ranged from 0% to 11%, with a pooled estimate of 8% (2). A better understanding of the risk for nonsexual transmission during the current outbreak in countries where mpox is not endemic is important for developing and implementing future prevention and control strategies. |
Prevalence and risk factors for human leptospirosis at a hospital serving a pastoralist community, Endulen, Tanzania
Maze MJ , Shirima GM , Lukambagire AS , Bodenham RF , Rubach MP , Cash-Goldwasser S , Carugati M , Thomas KM , Sakasaka P , Mkenda N , Allan KJ , Kazwala RR , Mmbaga BT , Buza JJ , Maro VP , Galloway RL , Haydon DT , Crump JA , Halliday JEB . PLoS Negl Trop Dis 2023 17 (12) e0011855 BACKGROUND: Leptospirosis is suspected to be a major cause of illness in rural Tanzania associated with close contact with livestock. We sought to determine leptospirosis prevalence, identify infecting Leptospira serogroups, and investigate risk factors for leptospirosis in a rural area of Tanzania where pastoralist animal husbandry practices and sustained livestock contact are common. METHODS: We enrolled participants at Endulen Hospital, Tanzania. Patients with a history of fever within 72 hours, or a tympanic temperature of ≥38.0°C were eligible. Serum samples were collected at presentation and 4-6 weeks later. Sera were tested using microscopic agglutination testing with 20 Leptospira serovars from 17 serogroups. Acute leptospirosis cases were defined by a ≥four-fold rise in antibody titre between acute and convalescent serum samples or a reciprocal titre ≥400 in either sample. Leptospira seropositivity was defined by a single reciprocal antibody titre ≥100 in either sample. We defined the predominant reactive serogroup as that with the highest titre. We explored risk factors for acute leptospirosis and Leptospira seropositivity using logistic regression modelling. RESULTS: Of 229 participants, 99 (43.2%) were male and the median (range) age was 27 (0, 78) years. Participation in at least one animal husbandry practice was reported by 160 (69.9%). We identified 18 (7.9%) cases of acute leptospirosis, with Djasiman 8 (44.4%) and Australis 7 (38.9%) the most common predominant reactive serogroups. Overall, 69 (31.1%) participants were Leptospira seropositive and the most common predominant reactive serogroups were Icterohaemorrhagiae (n = 21, 30.0%), Djasiman (n = 19, 27.1%), and Australis (n = 17, 24.3%). Milking cattle (OR 6.27, 95% CI 2.24-7.52) was a risk factor for acute leptospirosis, and milking goats (OR 2.35, 95% CI 1.07-5.16) was a risk factor for Leptospira seropositivity. CONCLUSIONS: We identified leptospirosis in approximately one in twelve patients attending hospital with fever from this rural community. Interventions that reduce risks associated with milking livestock may reduce human infections. |
Monitoring and reporting the US COVID-19 vaccination effort
Scharf LG , Adeniyi K , Augustini E , Boyd D , Corvin L , Kalach RE , Fast H , Fath J , Harris L , Henderson D , Hicks-Thomson J , Jones-Jack N , Kellerman A , Khan AN , McGarvey SS , McGehee JE , EMiner C , Moore LB , Murthy BP , Myerburg S , Neuhaus E , Nguyen K , Parker M , Pierce-Richards S , Samchok D , Shaw LK , Spoto S , Srinivasan A , Stearle C , Thomas J , Winarsky M , Zell E . Vaccine 2023 Immunizations are an important tool to reduce the burden of vaccine preventable diseases and improve population health.(1) High-quality immunization data is essential to inform clinical and public health interventions and respond to outbreaks of vaccine-preventable diseases. To track COVID-19 vaccines and vaccinations, CDC established an integrated network that included vaccination provider systems, health information exchange systems, immunization information systems, pharmacy and dialysis systems, vaccine ordering systems, electronic health records, and tools to support mass vaccination clinics. All these systems reported data to CDC's COVID-19 response system (either directly or indirectly) where it was processed, analyzed, and disseminated. This unprecedented vaccine tracking effort provided essential information for public health officials that was used to monitor the COVID-19 response and guide decisions. This paper will describe systems, processes, and policies that enabled monitoring and reporting of COVID-19 vaccination efforts and share challenges and lessons learned for future public health emergency responses. |
Total Worker Health and organizational behavior management: Emerging opportunities for improving worker well-being
Olson Ryan , Cunningham Thomas R , Nigam Jeannie A , Anger W , Rameshbabu Anjali , Donovan Courtney . J Organ Behav Manage 2022 We draw artificial boundaries between our lives at work, at home, and in the community. Each person is living an integrated life where all of their environments (resources, physical environment, psychosocial environment, responsibilities/demands) interact to impact their safety, health, and well-being. Total Worker Health is an approach developed by the National Institute for Occupational Safety and Health (NIOSH) to address such interactions, and to advance science and practice for protecting workers' safety, health, and well-being. The Total Worker Health (TWH) approach represents an expansion of traditional occupational safety and health research and practice, with strong safety protections for workers as its foundation. The current paper provides an introduction to TWH, including: (1) Significance, (2) Historical Background, (3) Hierarchy of Controls, (4) Review of TWH Interventions, and (5) Future Opportunities. The reciprocal and interactive perspective of TWH is consistent with Skinnerian and other approaches to behavioral science, as well as organizational systems analysis approaches. With its behavioral and systems analysis roots, and associated historical emphasis on environmental conditions and interventions, the Organizational Behavior Management community can make great and important contributions in the TWH domain. (PsycInfo Database Record (c) 2023 APA, all rights reserved) |
Agreement between cause of death assignment by computer-coded verbal autopsy methods and physician coding of verbal autopsy interviews in South Africa
Groenewald P , Thomas J , Clark SJ , Morof D , Joubert JD , Kabudula C , Li Z , Bradshaw D . Glob Health Action 2023 16 (1) 2285105 BACKGROUND: The South African national cause of death validation (NCODV 2017/18) project collected a national sample of verbal autopsies (VA) with cause of death (COD) assignment by physician-coded VA (PCVA) and computer-coded VA (CCVA). OBJECTIVE: The performance of three CCVA algorithms (InterVA-5, InSilicoVA and Tariff 2.0) in assigning a COD was compared with PCVA (reference standard). METHODS: Seven performance metrics assessed individual and population level agreement of COD assignment by age, sex and place of death subgroups. Positive predictive value (PPV), sensitivity, overall agreement, kappa, and chance corrected concordance (CCC) assessed individual level agreement. Cause-specific mortality fraction (CSMF) accuracy and Spearman's rank correlation assessed population level agreement. RESULTS: A total of 5386 VA records were analysed. PCVA and CCVAs all identified HIV/AIDS as the leading COD. CCVA PPV and sensitivity, based on confidence intervals, were comparable except for HIV/AIDS, TB, maternal, diabetes mellitus, other cancers, and some injuries. CCVAs performed well for identifying perinatal deaths, road traffic accidents, suicide and homicide but poorly for pneumonia, other infectious diseases and renal failure. Overall agreement between CCVAs and PCVA for the top single cause (48.2-51.6) indicated comparable weak agreement between methods. Overall agreement, for the top three causes showed moderate agreement for InterVA (70.9) and InSilicoVA (73.8). Agreement based on kappa (-0.05-0.49)and CCC (0.06-0.43) was weak to none for all algorithms and groups. CCVAs had moderate to strong agreement for CSMF accuracy, with InterVA-5 highest for neonates (0.90), Tariff 2.0 highest for adults (0.89) and males (0.84), and InSilicoVA highest for females (0.88), elders (0.83) and out-of-facility deaths (0.85). Rank correlation indicated moderate agreement for adults (0.75-0.79). CONCLUSIONS: Whilst CCVAs identified HIV/AIDS as the leading COD, consistent with PCVA, there is scope for improving the algorithms for use in South Africa. |
Development of a standardized opsonophagocytosis killing assay for group B Streptococcus and assessment in an interlaboratory study
Leung S , Collett CF , Allen L , Lim S , Maniatis P , Bolcen SJ , Alston B , Patel PY , Kwatra G , Hall T , Thomas S , Taylor S , Le Doare K , Gorringe A . Vaccines (Basel) 2023 11 (11) The placental transfer of antibodies that mediate bacterial clearance via phagocytes is likely important for protection against invasive group B Streptococcus (GBS) disease. A robust functional assay is essential to determine the immune correlates of protection and assist vaccine development. Using standard reagents, we developed and optimized an opsonophagocytic killing assay (OPKA) where dilutions of test sera were incubated with bacteria, baby rabbit complement (BRC) and differentiated HL60 cells (dHL60) for 30 min. Following overnight incubation, the surviving bacteria were enumerated and the % bacterial survival was calculated relative to serum-negative controls. A reciprocal 50% killing titer was then assigned. The minimal concentrations of anti-capsular polysaccharide (CPS) IgG required for 50% killing were 1.65-3.70 ng/mL (depending on serotype). Inhibition of killing was observed using sera absorbed with homologous CPS but not heterologous CPS, indicating specificity for anti-CPS IgG. The assay performance was examined in an interlaboratory study using residual sera from CPS-conjugate vaccine trials with international partners in the Group B Streptococcus Assay STandardisatiON (GASTON) Consortium. Strong correlations of reported titers between laboratories were observed: ST-Ia r = 0.88, ST-Ib r = 0.91, ST-II r = 0.91, ST-III r = 0.90 and ST-V r = 0.94. The OPKA is an easily transferable assay with accessible standard reagents and will be a valuable tool to assess GBS-specific antibodies in natural immunity and vaccine studies. |
Identifying workforce education, training, and outreach needs in decentralized wastewater and distributed water reuse
Holodak Jamie , Stanley Jacob K , Cox Alissa H , Groves Thomas W , Jantrania Anish , Moeller Jeffrey , Neset Kris , Walker Christopher , Zhang Harry , Heger Sara F , Brooks Bryan W . J Environ Health 2023 86 (5) 20-28 Although decentralized wastewater and distributed water reuse professionals represent a key part of environmental public health and environmental engineering, an understanding of workforce challenges has remained elusive. Here we begin to address the critical need of understanding education, training, and outreach needs for decentralized wastewater and distributed water reuse. We specifically engaged professionals working in health departments and other government agencies, industry, academia, and nongovernmental organizations. We examined workforce characteristics related to education, training, and outreach. We found that 37% of decentralized wastewater and distributed water reuse professionals plan to retire within 5 years, approximately 25% of these professionals do not hold any type of certification, and education and training are insufficient to meet current workforce demands. We further report 10 problem statements associated with timely education, training, and outreach needs, which represent important opportunities for improving the practice of decentralized wastewater and distributed water reuse. Strategic education, training, and outreach activities are necessary to ensure workforce preparedness, to promote education with owners of onsite technologies, and to expand advanced training and translational research programs in decentralized wastewater and distributed water reuse. Our findings can specifically support decision making aimed at sustaining and advancing the decentralized wastewater and distributed water reuse workforce. |
Evaluation of asymptomatic Bordetella carriage in a convenience sample of children and adolescents in Atlanta, Georgia, United States
Acosta AM , Simon A , Thomas S , Tunali A , Satola S , Jain S , Farley MM , Tondella ML , Skoff TH . J Pediatric Infect Dis Soc 2023 Few data exist on asymptomatic carriage of Bordetella species among populations receiving acellular pertussis vaccine. We conducted a cross-sectional study among acellular-vaccinated children presenting to an emergency department. B. pertussis carriage prevalence was <1% in this population, a lower prevalence than that found in recent studies among whole-cell pertussis-vaccinated participants. |
The Human Phenotype Ontology in 2024: phenotypes around the world
Gargano MA , Matentzoglu N , Coleman B , Addo-Lartey EB , Anagnostopoulos AV , Anderton J , Avillach P , Bagley AM , Bakštein E , Balhoff JP , Baynam G , Bello SM , Berk M , Bertram H , Bishop S , Blau H , Bodenstein DF , Botas P , Boztug K , Čady J , Callahan TJ , Cameron R , Carbon SJ , Castellanos F , Caufield JH , Chan LE , Chute CG , Cruz-Rojo J , Dahan-Oliel N , Davids JR , de Dieuleveult M , de Souza V , de Vries BBA , de Vries E , DePaulo JR , Derfalvi B , Dhombres F , Diaz-Byrd C , Dingemans AJM , Donadille B , Duyzend M , Elfeky R , Essaid S , Fabrizzi C , Fico G , Firth HV , Freudenberg-Hua Y , Fullerton JM , Gabriel DL , Gilmour K , Giordano J , Goes FS , Moses RG , Green I , Griese M , Groza T , Gu W , Guthrie J , Gyori B , Hamosh A , Hanauer M , Hanušová K , He YO , Hegde H , Helbig I , Holasová K , Hoyt CT , Huang S , Hurwitz E , Jacobsen JOB , Jiang X , Joseph L , Keramatian K , King B , Knoflach K , Koolen DA , Kraus ML , Kroll C , Kusters M , Ladewig MS , Lagorce D , Lai MC , Lapunzina P , Laraway B , Lewis-Smith D , Li X , Lucano C , Majd M , Marazita ML , Martinez-Glez V , McHenry TH , McInnis MG , McMurry JA , Mihulová M , Millett CE , Mitchell PB , Moslerová V , Narutomi K , Nematollahi S , Nevado J , Nierenberg AA , Čajbiková NN , Nurnberger JI Jr , Ogishima S , Olson D , Ortiz A , Pachajoa H , Perez de Nanclares G , Peters A , Putman T , Rapp CK , Rath A , Reese J , Rekerle L , Roberts AM , Roy S , Sanders SJ , Schuetz C , Schulte EC , Schulze TG , Schwarz M , Scott K , Seelow D , Seitz B , Shen Y , Similuk MN , Simon ES , Singh B , Smedley D , Smith CL , Smolinsky JT , Sperry S , Stafford E , Stefancsik R , Steinhaus R , Strawbridge R , Sundaramurthi JC , Talapova P , Tenorio Castano JA , Tesner P , Thomas RH , Thurm A , Turnovec M , van Gijn ME , Vasilevsky NA , Vlčková M , Walden A , Wang K , Wapner R , Ware JS , Wiafe AA , Wiafe SA , Wiggins LD , Williams AE , Wu C , Wyrwoll MJ , Xiong H , Yalin N , Yamamoto Y , Yatham LN , Yocum AK , Young AH , Yüksel Z , Zandi PP , Zankl A , Zarante I , Zvolský M , Toro S , Carmody LC , Harris NL , Munoz-Torres MC , Danis D , Mungall CJ , Köhler S , Haendel MA , Robinson PN . Nucleic Acids Res 2023 52 D1333-D1346 The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs. |
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