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2.
JACC Adv ; 3(7): 100928, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39130022

RESUMEN

Background: Poverty is associated with atherosclerotic cardiovascular disease (ASCVD). While poverty can be evaluated using income, a unidimensional poverty metric inadequately captures socioeconomic adversity. Objectives: The aim of the study was to examine the association between a multidimensional poverty measure and ASCVD. Methods: Survey data from the National Health Interview Survey was analyzed. Four poverty dimensions were used: income, education, self-reported health, and health insurance status. A weighted deprivation score (c i ) was calculated for each person. The multidimensional poverty index was computed for various cutoffs, k, for total population, and by ASCVD status. The association between multidimensional poverty and ASCVD was examined using Poisson regression. Area under receiver operator characteristics curve analysis was performed to compare the multidimensional poverty measure with the income poverty measure as a classification tool for ASCVD. Results: Among the 328,164 participants, 55.0% were females, the mean age was 46.3 years, 63.1% were non-Hispanic Whites, and 14.1% were non-Hispanic Blacks. Participants with ASCVD (7.95%) experienced greater deprivation at each multidimensional poverty cutoff, k, compared to those without ASCVD. In adjusted models, higher burden of multidimensional poverty was associated with up to 2.4-fold increased prevalence of ASCVD (c i  = 0.25, adjusted prevalence ratio [aPR] = 1.66, P < 0.001; c i  = 0.50, aPR = 1.99; c i  = 0.75, aPR = 2.29; P < 0.001; c i  = 1.00, aPR = 2.38, P < 0.001). Multidimensional poverty exhibited modestly higher discriminant validity, compared to income poverty (area under receiver operator characteristics = 0.62 vs 0.58). Conclusions: There is an association between the multidimensional poverty and ASCVD. Multidimensional poverty index demonstrates slightly better discriminatory power than income alone. Future validation studies are warranted to redefine poverty's role in health outcomes.

3.
J Pak Med Assoc ; 74(7): 1296-1299, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39028058

RESUMEN

Objective: To determine the effectiveness of breathing techniques in the management of asthma. METHODS: The systematic review was conducted from July 2021 to August 2022, and comprised search on PubMed, Google Scholar, and MEDLINE databases using the population-intervention-control-outcomes format and Boolean operators. Relevant randomised controlled trials published in the English language in the preceding 10 years were included. The last literature search was done on January 15, 2022. To evaluate the bias in studies, the Cochrane risk of bias tool was used. PEDro scale was used to assess the quality of the trials analysed. RESULTS: Of the 250 studies initially identified, 11(4.4%) random controlled trials were analysed in detail. The quality of methodology was high, and the studies reported significant improvement with the use of breathing techniques in symptoms of asthma and quality of life along with a decrease in the use of bronchodilators. Conclusion: Literature supported the use of breathing techniques in the management of asthma.


Asunto(s)
Asma , Asma/terapia , Asma/tratamiento farmacológico , Humanos , Calidad de Vida , Ejercicios Respiratorios/métodos , Broncodilatadores/uso terapéutico
4.
J Pak Med Assoc ; 74(7): 1335-1337, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39028065

RESUMEN

De Quervain's disease (DQD) is commonly reported in mothers during pregnancy up to delayed postpartum period. A cross-sectional study was conducted to assess infant caregivers who visited the paediatric outpatient department or vaccination centre in two hospitals of Lahore, during the months of May and June, 2021. A total of 190 subjects were interviewed directly and assessed by applying Finkelstein's test on both hands. Data was collected using Numeric Pain Rating Scale (NPRS) and Patient Rated Wrist Evaluation (PRWE) from positive subjects. They were asked to report their pain and difficulty level of the affected hand with worsened symptoms. The results exhibited 26.8% prevalence of DQD in a sample size of 190. Infant's age, lifting frequency and hand dominance were proved significant risk factors. However, caregiver's age, history of wrist pain, infant weight and relationship with infant were proved insignificant. Mean PRWE pain and functional scores were 23.14±7.72 and 18.53±6.09, respectively.


Asunto(s)
Cuidadores , Enfermedad de De Quervain , Humanos , Femenino , Factores de Riesgo , Estudios Transversales , Prevalencia , Lactante , Cuidadores/estadística & datos numéricos , Masculino , Adulto , Pakistán/epidemiología , Enfermedad de De Quervain/epidemiología , Factores de Edad , Dimensión del Dolor , Adulto Joven
6.
Am J Prev Cardiol ; 18: 100678, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38756692

RESUMEN

Objectives: To investigate the potential value and feasibility of creating a listing system-wide registry of patients with at-risk and established Atherosclerotic Cardiovascular Disease (ASCVD) within a large healthcare system using automated data extraction methods to systematically identify burden, determinants, and the spectrum of at-risk patients to inform population health management. Additionally, the Houston Methodist Cardiovascular Disease Learning Health System (HM CVD-LHS) registry intends to create high-quality data-driven analytical insights to assess, track, and promote cardiovascular research and care. Methods: We conducted a retrospective multi-center, cohort analysis of adult patients who were seen in the outpatient settings of a large healthcare system between June 2016 - December 2022 to create an EMR-based registry. A common framework was developed to automatically extract clinical data from the EMR and then integrate it with the social determinants of health information retrieved from external sources. Microsoft's SQL Server Management Studio was used for creating multiple Extract-Transform-Load scripts and stored procedures for collecting, cleaning, storing, monitoring, reviewing, auto-updating, validating, and reporting the data based on the registry goals. Results: A real-time, programmatically deidentified, auto-updated EMR-based HM CVD-LHS registry was developed with ∼450 variables stored in multiple tables each containing information related to patient's demographics, encounters, diagnoses, vitals, labs, medication use, and comorbidities. Out of 1,171,768 adult individuals in the registry, 113,022 (9.6%) ASCVD patients were identified between June 2016 and December 2022 (mean age was 69.2 ± 12.2 years, with 55% Men and 15% Black individuals). Further, multi-level groupings of patients with laboratory test results and medication use have been analyzed for evaluating the outcomes of interest. Conclusions: HM CVD-LHS registry database was developed successfully providing the listing registry of patients with established ASCVD and those at risk. This approach empowers knowledge inference and provides support for efforts to move away from manual patient chart abstraction by suggesting that a common registry framework with a concurrent design of data collection tools and reporting rapidly extracting useful structured clinical data from EMRs for creating patient or specialty population registries.

7.
J Pak Med Assoc ; 74(5): 848-851, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38783428

RESUMEN

OBJECTIVE: To compare the effects of core muscle strengthening exercises with and without routine physical therapy on trunk balance in chronic stroke patients. METHODS: The randomised controlled trial was conducted at Mubarak Medical Complex, Sargodha, Pakistan, from October 28, 2021, to April 28, 2022, and comprised patients of either gender with chronic stroke aged 40-60 years. The subjects were randomised using the lottery method into group A that was managed with routine physical therapy, and group B which was further managed with core strengthening exercises. The intervention comprised 4 sessions per week for 8 weeks. Outcome was measured using Trunk Impairment Scale and Time Up and Go test. Data was collected at baseline, week 4 and post-intervention. Data was analysed using SPSS 23. RESULTS: Of the 80 individuals screened, 74(92.5%) were included. There were 37(50%) patients in group A; 30(81%) males and 7(19%) females with mean age 56.73±2.37 years. The remaining 37(50%) patients were in group B; 27(73%) males and 10(27%) females with mean age 55.65±2.88 years. Trunk balance and functional mobility improved significantly post-intervention in both groups (p<0.05), but group B values were significantly better compared to group A values (p<0.05). CONCLUSIONS: Core muscle strengthening exercises combined with routine physical therapy were found to be more effective compared to routine physical therapy alone in chronic stroke patients for improving trunk balance and functional mobility. Registration Number: IRCT20211116053070N1.


Asunto(s)
Fuerza Muscular , Equilibrio Postural , Rehabilitación de Accidente Cerebrovascular , Humanos , Masculino , Femenino , Persona de Mediana Edad , Rehabilitación de Accidente Cerebrovascular/métodos , Equilibrio Postural/fisiología , Fuerza Muscular/fisiología , Adulto , Entrenamiento de Fuerza/métodos , Terapia por Ejercicio/métodos , Accidente Cerebrovascular/fisiopatología , Accidente Cerebrovascular/terapia , Modalidades de Fisioterapia , Pakistán , Torso/fisiopatología
8.
Am Heart J ; 267: 95-100, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38071003

RESUMEN

BACKGROUND: The association between cumulative burden of unfavorable social determinants of health (SDoH) and all-cause mortality has not been assessed by atherosclerotic cardiovascular disease (ASCVD) status on a population level in the United States. METHODS: We assessed the association between cumulative social disadvantage and all-cause mortality by ASCVD status in the National Health Interview Survey, linked to the National Death Index. RESULTS: In models adjusted for established clinical risk factors, individuals experiencing the highest level of social disadvantage (SDoH-Q4) had over 1.5 (aHR = 1.55; 95%CI = 1.22, 1.96) and 2-fold (aHR = 2.21; 95% CI = 1.91, 2.56) fold increased risk of mortality relative to those with the most favorable social profile (SDoH-Q1), respectively for adults with and without ASCVD; those experiencing co-occurring ASCVD and high social disadvantage had up to four-fold higher risk of mortality (aHR = 3.81; 95%CI = 3.36, 4.32). CONCLUSIONS: These findings emphasize the importance of a healthcare model that prioritizes efforts to identify and address key social and environmental barriers to health and wellbeing, particularly in individuals experiencing the double jeopardy of clinical and social risk.


Asunto(s)
Aterosclerosis , Enfermedades Cardiovasculares , Adulto , Humanos , Estados Unidos/epidemiología , Determinantes Sociales de la Salud , Factores de Riesgo , Recolección de Datos
9.
Methodist Debakey Cardiovasc J ; 19(5): 77-84, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38028967

RESUMEN

Rapid advancements in artificial intelligence (AI) have revolutionized numerous sectors, including medical research. Among the various AI tools, OpenAI's ChatGPT, a state-of-the-art language model, has demonstrated immense potential in aiding and enhancing research processes. This review explores the application of ChatGPT in medical hospital level research, focusing on its capabilities for academic writing assistance, data analytics, statistics handling, and code generation. Notably, it delves into the model's ability to streamline tasks, support decision making, and improve patient interaction. However, the article also underscores the importance of exercising caution while dealing with sensitive healthcare data and highlights the limitations of ChatGPT, such as its potential for erroneous outputs and biases. Furthermore, the review discusses the ethical considerations that arise with AI use in health care, including data privacy, AI interpretability, and the risk of AI-induced disparities. The article culminates by envisioning the future of AI in medical research, emphasizing the need for robust regulatory frameworks and guidelines that balance the potential of AI with ethical considerations. As AI continues to evolve, it holds promising potential to augment medical research in a manner that is ethical, equitable, and patient-centric.


Asunto(s)
Inteligencia Artificial , Investigación Biomédica , Humanos , Hospitales , Ejercicio Físico , Escritura
10.
J Genet Couns ; 2023 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-37872860

RESUMEN

Genetic counseling and genetic testing are essential for individuals with congenital heart disease/defects (CHD/CHDs). However, the clinical practices of genetic counselors (GCs) and their preferences for different CHD genetic testing strategies are previously unexplored. To address these gaps, GCs (n = 112) representing diverse specialties completed an online survey regarding their counseling and testing practices for syndromic CHD and apparently isolated/non-syndromic CHDs (iCHD). We found practice variability around family screening recommendations, with prenatal respondents reporting lower prevalence of this practice for iCHDs (p = 0.0004). We found that all specialties considered chromosomal microarray (CMA) the most common prioritized genetic test for syndromic and iCHD, while more prenatal respondents considered FISH and karyotype useful for iCHDs compared to postnatal respondents (p = 0.0002 and p = 0.002, respectively). Among postnatal respondents, a higher proportion considered exome/genome sequencing as useful compared to prenatal respondents (p = 0.0159); specifically, postnatal respondents' preference for exome/genome sequencing for iCHDs was ~2.6-fold higher than prenatal respondents. We estimated participants' assessment of utility for different genetic testing modalities for iCHDs and found that prenatal respondents assigned higher mean utility to FISH (p = 0.0002), karyotype (p = 0.0006), and CMA (p < 0.0001). There were relatively moderate to decreased utility scores for gene panels and exome/genome sequencing for iCHDs compared to cytogenetic testing, across all specialties. Overall, these results provide insight into GC practices and use of various genetic testing strategies for syndromic CHDs and iCHDs. Findings may help inform and/or standardize clinical practices for CHD genetic testing, though additional studies are warranted.

11.
Br Dent J ; 235(5): 323, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37684459
12.
Evid Based Dent ; 24(3): 130-131, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37670134

RESUMEN

DATA SOURCES: This study was a systematic review conducted in accordance with the Transparent Reporting of Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A literature search was undertaken using eleven databases including PubMed, Embase, Web of Sciences, The Cochrane Library, Ovid, Scopus, Sinomed, Sciencedirect, China National Knowledge Infrastructure (CNKI), Wanfang and Technology Periodicals Database (VIP). Additional studies were identified by searching the references of these studies. The search time was from inception to April 2022. STUDY SELECTION: The population, intervention, comparison and outcomes were considered. The level of evidence was limited to relevant randomised control trials (RCT) that answered the questions defined in this review. DATA EXTRACTION AND SYNTHESIS: Screening of eligible studies was conducted by two independent reviewers. Data was extracted using a standardised form which included information about the type of research, population, sample size of experimental group and control group, outcome measurements and results. Bias risk and evidence quality assessment were also assessed. Where appropriate, standard meta-analysis techniques were used to pool study results. The statistical analysis was performed using the RevMan5.4 software and the Stata16. Sensitivity analysis was performed on the combined analysis results. RESULTS: A total of 17 RCTs were identified to meet the eligibility criteria. The trials lasted between 2 and 24 weeks and were published after 2000. The studies encompassed 3781 preschool children divided into an experimental group (n = 2047) and a control group (n = 1734). The meta-analysis highlighted that incidence of dental caries could be prevented by probiotics. Caries incidence in preschool children was reduced in the Lactobacillus rhamnosus group. Streptococcus Mutans (S.mutans) count in saliva could be reduced however, probiotics could not reduce the number of S.mutans in dental plaque. CONCLUSIONS: The authors conclude that probiotics could prevent dental caries. Lactobacillus rhamnosus was identified as the more effective than other probiotics to reduce dental caries in preschool children.


Asunto(s)
Caries Dental , Lacticaseibacillus rhamnosus , Probióticos , Preescolar , Humanos , China , Grupos Control , Bases de Datos Factuales , Caries Dental/prevención & control , Probióticos/uso terapéutico
13.
J Genet Couns ; 32(2): 362-375, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36222363

RESUMEN

Cardiovascular genetic counseling has expanded as an established genetic counseling specialty over the last 20 years. Despite guidelines recommending genetic counseling for heritable cardiac diseases, there have been limited descriptions of the practice model types used for different clinical indications seen in this genetic counseling subspecialty. We aimed to describe current clinical practice models used by cardiovascular genetic counselors and to document practice model strengths, challenges, and areas for improvement. Genetic counselor respondents (n = 63) who self-reported seeing cardiovascular indications were recruited through the National Society of Genetic Counselors and Twitter. They completed a survey describing the types of healthcare professionals with whom they collaborate to see common cardiovascular indications, the nature of their collaboration, and their qualitative experiences with their practice models. Clinical indications addressed in this survey were hypertrophic cardiomyopathy, dilated cardiomyopathy, all other cardiomyopathies, arrhythmias, aortopathies, dyslipidemias, pulmonary arterial hypertension, and congenital heart defects. Data were analyzed using descriptive statistics and thematic analysis. We found that the composition of multidisciplinary provider practice models varies by indication, though general cardiologists were the most common collaborative provider reported. Practice models including geneticists were most common for aortopathy indications. Overall, the majority of respondents were satisfied with the practice models they reported. While a wide variety of successes, challenges, and areas for improvement of practice models were reported, collaboration, communication, and access to appropriate providers for patient care were consistent themes across these three questions. To our knowledge, this is the first description of practice models used by cardiovascular genetic counselors. The results of this study add to the knowledge of this specialty of genetic counseling and assist in understanding the needs and challenges for developing cardiovascular genetics programs and clinics.


Asunto(s)
Enfermedades Cardiovasculares , Asesoramiento Genético , Humanos , Consejeros , Personal de Salud , América del Norte , Guías de Práctica Clínica como Asunto , Estudios Transversales , Encuestas y Cuestionarios
14.
Curr Probl Cardiol ; 47(11): 101312, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35839933

RESUMEN

Cardiac arrest (CA) among young adults (<45 y) with ischemic heart disease (IHD) remained understudied. We evaluated the trends in clinical profile, in-hospital mortality, and health care resource utilization in CA-related hospitalizations among young adults with IHD. National Inpatient Sample (2004-2018) was used to identify adults aged 18-45 years. Of 77,359 weighted CA-related hospitalizations (mean age: 39 [0.05] y; 34.3% women), 65% had a myocardial infarction (MI), and 58% had a shockable rhythm. Between 2004 and 2018, CA-related hospitalizations among young adults with IHD increased from 1.8% to 2.4%. Overall, in-hospital mortality was 36.4%, which was higher for women vs men (40.4% vs 34.2%; P < 0.001) and Black vs White adults (43.9% vs 33.3%; P < 0.001). In-hospital mortality increased from 33.5% to 38.1%, with a consistent upward trend in men, White adults, and both MI and non-MI cases. However, in STEMI (40%), in-hospital mortality decreased from 34.6% to 20.2% (p-trend <0.001), while it increased in NSTEMI (14.8%) from 34.3% to 47.5% (p-trend <0.001). Overall mean length of stay (LOS) (7-9 days) and mean inflation-adjusted care cost ($34,431-$44,646) increased over the study duration. CA-related hospitalizations and associated LOS and inflation-adjusted care costs have increased in the last 15 years. In-hospital mortality increased by ∼5% during the study period with a higher mortality in women and among black adults. While increased CA-related hospitalizations may reflect improved pre-hospital care, greater efforts are needed to address improve in-hospital survival in CA among young adults with IHD.


Asunto(s)
Paro Cardíaco , Infarto del Miocardio , Isquemia Miocárdica , Adulto , Femenino , Paro Cardíaco/epidemiología , Paro Cardíaco/terapia , Mortalidad Hospitalaria , Hospitalización , Humanos , Tiempo de Internación , Masculino , Infarto del Miocardio/epidemiología , Infarto del Miocardio/terapia , Isquemia Miocárdica/epidemiología , Isquemia Miocárdica/terapia , Estados Unidos/epidemiología , Adulto Joven
15.
J Community Genet ; 13(4): 449-458, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35794442

RESUMEN

The COVID-19 pandemic required genetic counseling services, like most outpatient healthcare, to rapidly adopt a telemedicine model. Understanding the trends in patients' preferences for telemedicine relative to in-person service delivery both before and after the advent of the COVID-19 pandemic may aid in navigating how best to integrate telemedicine in a post-COVID-19 era. Our study explored how respondents' willingness to use, and preference for, telemedicine differed from before to after the onset of the COVID-19 pandemic. Respondents included patients, or their parent/guardian, seen in a general medical genetics clinic in 2018, prior to the COVID-19 pandemic, and in 2021, during the COVID-19 pandemic. Respondents were surveyed regarding their willingness to use telemedicine, preference for telemedicine relative to in-person care, and the influence of various factors. Among 69 pre-COVID-19 and 40 current-COVID-19 respondents, there was no shift in willingness to use, or preference for, telemedicine across these time periods. About half of respondents (50.6%) preferred telemedicine visits for the future. Of the 49.4% who preferred in-person visits, 79.1% were still willing to have visits via telemedicine. Predictors of these preferences included comfort with technology and prioritization of convenience of location. This study suggests that a hybrid care model, utilizing telemedicine and in-person service delivery, may be most appropriate to meet the needs of the diverse patients served. Concern for COVID-19 was not found to predict willingness or preference, suggesting that our findings may be generalizable in post-pandemic contexts.

16.
PLoS Genet ; 18(6): e1010236, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35737725

RESUMEN

Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable expressivity, and the difficulty of accurately phenotyping newborns contribute to this problem. We hypothesized that performing exome sequencing on selected individuals in families with multiple members affected by left-sided CHD, then filtering variants by population frequency, in silico predictive algorithms, and phenotypic annotations from publicly available databases would increase this yield and generate a list of candidate disease-causing variants that would show a high validation rate. In eight of the nineteen families in our study (42%), we established a well-known gene/phenotype link for a candidate variant or performed confirmation of a candidate variant's effect on protein function, including variants in genes not previously described or firmly established as disease genes in the body of CHD literature: BMP10, CASZ1, ROCK1 and SMYD1. Two plausible variants in different genes were found to segregate in the same family in two instances suggesting oligogenic inheritance. These results highlight the need for functional validation and demonstrate that in the era of next-generation sequencing, multiplex families with isolated CHD can still bring high yield to the discovery of novel disease genes.


Asunto(s)
Exoma , Cardiopatías Congénitas , Proteínas Morfogenéticas Óseas/genética , Proteínas de Unión al ADN/genética , Exoma/genética , Frecuencia de los Genes , Estudios de Asociación Genética , Cardiopatías Congénitas/genética , Humanos , Recién Nacido , Linaje , Factores de Transcripción/genética , Secuenciación del Exoma , Quinasas Asociadas a rho/genética
17.
J Genet Couns ; 31(1): 9-33, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34510635

RESUMEN

Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching counseling for this particular indication while recognizing the rapidly changing landscape of knowledge within this domain. This resource was developed with consensus from a diverse group of certified genetic counselors utilizing literature relevant for CHD genetic counseling practice and is aimed at supporting genetic counselors who encounter this indication in their practice both pre- and postnatally.


Asunto(s)
Consejeros , Cardiopatías Congénitas , Certificación , Consejo , Consejeros/psicología , Asesoramiento Genético/psicología , Cardiopatías Congénitas/genética , Humanos
18.
J Genet Couns ; 31(2): 479-488, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34570930

RESUMEN

For the past two decades, the guidelines put forth by the American College of Medical Genetics and Genomics (ACMG) detailing providers' clinical responsibility to recontact patients have remained mostly unchanged, despite evolving variant interpretation practices which have yielded substantial rates of reclassification and amended reports. In fact, there is little information regarding genetic counselors' roles in informing patients of reclassified variants, or the process by which these amended reports are currently being handled. In this study, we developed a survey to measure current experiences with amended variant reports and preferences for ideal management, which was completed by 96 genetic counselors from the United States and Canada. All respondents indicated they were the individuals responsible for disclosing initial positive genetic testing results and any clinically actionable reclassified variant reports, and over half (56%) received at least a few amended variant reports each year. Nearly a quarter (20/87) of respondents reported having a standard operating procedure (SOP) for managing amended reports and all were very satisfied (12/20) or satisfied (8/20) with the SOP. Of those without a protocol, 76% (51/67) would prefer to have an SOP implemented. Respondents reported a preference for (1) laboratories to send amended variant reports directly to the genetic counselor or ordering physician through email or an online portal, and (2) notification to patients ideally occurring through a phone call. In the event that the original genetic counselor is inaccessible, respondents reported a preference for reports to be sent directly to another genetic counselor (36%) on the team or the clinic in general (27%). Information from this study provides insight into the current practices of genetic counselors as applied to amended reports and what improvements may increase the efficiency of the reporting process. Moreover, these results suggest a need for an updated statement addressing duty to recontact, specifically as it applies to amended variant reports.


Asunto(s)
Consejeros , Deber de Recontacto , Asesoramiento Genético/métodos , Pruebas Genéticas , Humanos , Encuestas y Cuestionarios , Estados Unidos
19.
J Genet Couns ; 31(3): 735-745, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-34877755

RESUMEN

Genetic counselors are one of the many providers involved in caring for patients with congenital heart defects (CHDs); however, little is known about the cardiovascular genetics training they receive by their graduate programs. To explore the recalled education experiences regarding CHDs by practicing genetic counselors, we surveyed graduates of programs primarily accredited by the American Council on Genetic Counseling (ACGC) about their graduate training in this area, the depth of CHD-specific education they received, and whether CHDs are a substantial referral indication in their current practice. Genetic counselors were recruited from the National Society of Genetic Counselors and Twitter (n = 112), and participants reflecting multiple specialties and 35 graduate programs completed an online survey which included questions about fieldwork placements and lectures in cardiovascular genetics, exposure to classification schemes regarding cardiac embryology, and education in counseling strategies for CHDs and CHD-related topics during their graduate training. When asked whether CHDs are a substantial referral indication seen in their current practice, 55% (62/112) responded yes. Most participants (79%, 88/112) recalled receiving some education about CHDs, but 91% (80/88) reported receiving little to no education regarding embryologic classification of CHDs and how to apply classification schemes to their counseling. Both participating prenatal and pediatric GCs reported that CHDs can be a common referral indication, yet they reported receiving limited education on teratogens associated with CHDs, family screening recommendations, and recurrence risk counseling for CHDs. Based on participant responses, the majority of respondents reported receiving sufficient education on syndromes with CHDs which can be beneficial in specialties such as pediatrics. This exploratory study provides insight into opportunities to further support genetic counseling educational opportunities for CHDs. These findings suggest genetic counseling graduate programs could consider implementing education on CHD counseling strategies as a standardized component of the curriculum and that practicing genetic counselors could benefit from educational opportunities and resources with updated information on this topic.


Asunto(s)
Consejeros , Cardiopatías Congénitas , Niño , Consejo , Consejeros/psicología , Educación de Postgrado , Femenino , Asesoramiento Genético/psicología , Humanos , Embarazo , Estados Unidos
20.
Am Heart J ; 245: 60-69, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34902312

RESUMEN

BACKGROUND: In patients with atherosclerotic cardiovascular disease (ASCVD), barriers related to transportation may impair access to care, with potential implications for prognosis. Although few studies have explored transportation barriers among patients with ASCVD, the correlates of delayed care due to transportation barriers have not been examined in this population. We aimed to examine this in U.S. patients with ASCVD using nationally representative data. METHODS: Using data from the 2009-2018 National Health Interview Survey, we estimated the self-reported prevalence of delayed medical care due to transportation barriers among adults with ASCVD, overall and by sociodemographic characteristics. Logistic regression was used to examine the association between various sociodemographic characteristics and delayed care due to transportation barriers. RESULTS: Among adults with ASCVD, 4.5% (95% CI; 4.2, 4.8) or ∼876,000 annually reported delayed care due to transportation barriers. Income (low-income: odds ratio [OR] 4.43, 95% CI [3.04, 6.46]; lowest-income: OR 6.35, 95% CI [4.36, 9.23]) and Medicaid insurance (OR 4.53; 95% CI [3.27, 6.29]) were strongly associated with delayed care due to transportation barriers. Additionally, younger individuals, women, non-Hispanic Black adults, and those from the U.S. South or Midwest, had higher odds of reporting delayed care due to transportation barriers. CONCLUSIONS: Approximately 5% of adults with ASCVD experience delayed care due to transportation barriers. Vulnerable groups include young adults, women, low-income people, and those with public/no insurance. Future studies should analyze the feasibility and potential benefits of interventions such as use of telehealth, mobile clinics, and provision of transportation among patients with ASCVD in the U.S.


Asunto(s)
Aterosclerosis , Enfermedades Cardiovasculares , Aterosclerosis/epidemiología , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/terapia , Femenino , Humanos , Renta , Medicaid , Pobreza , Estados Unidos/epidemiología , Adulto Joven
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