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1.
Genet Med ; : 101200, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38943480

RESUMO

BACKGROUND: Elective genomic testing (EGT) is increasingly available clinically. Limited real world evidence exists about attitudes and knowledge of EGT recipients. METHODS: After web-based education, patients who enrolled in an EGT program at a rural nonprofit healthcare system completed a survey that assessed attitudes, knowledge, and risk perceptions. RESULTS: From August 2020 to April 2022, 5,920 patients completed the survey and received testing. Patients most frequently cited interest in learning their personal disease risks as their primary motivation. Patients most often expected results to guide medication management (74.0%), prevent future disease (70.4%), and provide information about risks to offspring (65.4%). Patients were "very concerned" most frequently about the privacy of genetic information (19.8%) and how well testing predicted disease risks (18.0%). On average, patients answered 6.7 of 11 knowledge items correctly (61.3%). They more often rated their risks for colon and breast cancers as lower rather than higher than the average person, but more often rated their risk for a heart attack as higher rather than lower than the average person (all p<0.001). CONCLUSION: Patients pursued EGT because of the utility expectations, but often misunderstood the test's capabilities.

2.
Int J Eat Disord ; 57(3): 543-547, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38297971

RESUMO

This Virtual Issue of the International Journal of Eating Disorders honors the legacy of the late Dr. C. Barr Taylor in the eating disorders (EDs) field. For decades, Dr. Taylor led the way in not only conducting the research needed to achieve the ultimate goal of making affordable, accessible, and evidence-based care for EDs available to all, but also nurturing the next generation of scientific leaders and innovators. Articles included in this Virtual Issue are a selection of Dr. Taylor's published works in the Journal in the past decade, spanning original research, ideas worth researching, commentaries, and a systematic review. We hope this Virtual Issue will inspire the next generation of research in EDs, and equally, if not more importantly, the next generation of young investigators in the field. We urge the field to continue and build upon Dr. Taylor's vision-to increase access to targeted prevention and intervention for EDs in innovative and forward-thinking ways-while embracing his unique and powerful mentorship style to lift up early career investigators and create a community of leaders to address and solve our field's biggest challenges.

3.
J Genet Couns ; 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38757439

RESUMO

Familial communication of results and cascade genetic testing (CGT) can extend the benefits of genetic screening beyond the patient to their at-risk relatives. While an increasing number of health systems are offering genetic screening as an elective clinical service, data are limited about how often results are shared and how often results lead to CGT. From 2018 to 2022, the Sanford Health system offered the Sanford Chip, an elective genomic test that included screening for medically actionable predispositions for disease recommended by the American College of Medical Genetics and Genomics for secondary findings disclosure, to its adult primary care patients. We analyzed patient-reported data about familial sharing of results and CGT among patients who received Sanford Chip results at least 1 year previously. Among the patients identified with medically actionable predispositions, 94.6% (53/56) reported disclosing their result to at least one family member, compared with 46.7% (423/906) of patients with uninformative findings (p < 0.001). Of the patients with actionable predispositions, 52.2% (12/23) with a monogenic disease risk and 12.1% (4/33) with a carrier status reported that their relatives underwent CGT. Results suggest that while the identification of monogenic risk during elective genomic testing motivates CGT in many at-risk relatives, there remain untested at-risk relatives who may benefit from future CGT. Findings identify an area that may benefit from increased genetic counseling and the development of tools and resources to encourage CGT for family members.

4.
Birth ; 50(1): 99-108, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36625522

RESUMO

BACKGROUND: Women with prenatal substance use have been identified as at-risk for the lack of engagement in perinatal services, such as medical care and home visitation programs. This issue is of particular concern in Florida (United States) where rates of fetal substance exposure have been steadily increasing. METHODS: To identify pathways of and barriers to perinatal system and service engagement, journey mapping was used to compile various personas of perinatal women with substance use. A structured guide was developed to elicit maternal personas, system and service touchpoints, and system strengths and weaknesses from focus group participants with statewide stakeholders, including perinatal service administrators and community coalition members within three Florida communities. Workshop transcripts, debriefing, and member-checking sessions were transcribed verbatim and analyzed manually. RESULTS: Six journey-mapping workshops and two member-checking meetings with mothers in-recovery were conducted with a total of 109 participants. Four personas were identified: women who (1) have substance use on a recreational basis, (2) have prescription drug use/misuse, (3) have chronic substance dependence, and (4) are in-recovery from substance dependence. Pathways that promote and barriers that prevent perinatal women with substance use from being identified, referred, or willing to accept and engage in medical care and social services were identified. CONCLUSIONS: While these personas shed light on differential pathways experienced by women with OUD, they were not intended as fixed-member groups but rather fluid descriptions of circumstances in which individuals could shift over time. These personas are beneficial to understand differences in circumstances, as well as variations in pathways and barriers to service engagement. Additionally, personas may be used to identify approaches to optimize service engagement by perinatal women with substance use and to support system improvements and integrations.


Assuntos
Poder Familiar , Transtornos Relacionados ao Uso de Substâncias , Gravidez , Feminino , Humanos , Parto , Mães , Grupos Focais
5.
Faraday Discuss ; 238(0): 682-699, 2022 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-35781475

RESUMO

Recently, covariance analysis has found significant use in the field of chemical reaction dynamics. When coupled with data from product time-of-flight mass spectrometry and/or multi-mass velocity-map imaging, it allows us to uncover correlations between two or more ions formed from the same parent molecule. While the approach has parallels with coincidence measurements, covariance analysis allows experiments to be performed at much higher count rates than traditional coincidence methods. We report results from electron-molecule crossed-beam experiments, in which covariance analysis is used to elucidate the dissociation dynamics of multiply-charged ions formed by electron ionisation over the energy range from 50 to 300 eV. The approach is able to isolate signal contributions from multiply charged ions even against a very large 'background' of signal arising from dissociation of singly-charged parent ions. Covariance between the product time-of-flight spectra identifies pairs of fragments arising from the same parent ions, while covariances between the velocity-map images ('recoil-frame covariances') reveal the relative velocity distributions of the ion pairs. We show that recoil-frame covariance analysis can be used to distinguish between multiple plausible dissociation mechanisms, including multi-step processes, and that the approach becomes particularly powerful when investigating the fragmentation dynamics of larger molecules with a higher number of possible fragmentation pathways.


Assuntos
Elétrons , Espectrometria de Massas/métodos , Íons/química
6.
Prenat Diagn ; 42(12): 1481-1483, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36217303

RESUMO

AIMS: A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna magna and a small area of calcification around the posterior horns. Testing was initiated to identify any underlying genetic cause. MATERIALS AND METHODS: Rapid trio exome sequencing (ES) was performed on DNA extracted from parental blood samples and amniotic fluid. RESULTS: A pathogenic homozygous nonsense variant in KLHL7 (NM_001031710.2) associated with PERCHING syndrome (#617055) was identified. CONCLUSION: Whilst there are detailed descriptions of the many postnatal phenotypes seen in these patients, there are few reports of features identified during pregnancy. This report is the first published prenatal diagnosis of PERCHING syndrome and provides further information on the associated fetal phenotypes.


Assuntos
Malformações do Sistema Nervoso , Poli-Hidrâmnios , Gravidez , Humanos , Feminino , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal , Poli-Hidrâmnios/genética , Idade Gestacional , Líquido Amniótico , Autoantígenos
7.
S D Med ; 75(11): 518-520, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36893031

RESUMO

Direct-to-consumer genetic testing (DTC-GT) is genetic testing initiated by a consumer through a commercial company without the direct involvement of a physician or genetics professional. DTC-GT companies have developed tests that provide information about one's ancestry, carrier status, and risk to develop certain conditions. As more consumers participate in DTC-GT, primary care providers (PCPs) are at a greater chance to encounter DTC-GT results and conversations in their practice. PCPs often do not have specialized genetics training and may not feel equipped to engage in a discussion about DTC-GT, but they are well-positioned to explore the perceived benefits and limitations of DTC-GT with their patients. Limitations of DTC-GT include risk for false positive or false negative results, risk for unintended information, and risk for privacy invasion. We provide a resource for PCPs to use when approaching the topic of DTC-GT with their patients including how to discuss motivations for pursuing and concerns about DTC-GT, as well as the limitations and implications of this testing. We hope this resource can guide fruitful conversations between PCPs and patients who are looking for support from their trusted physician while considering DTC-GT or interpreting their results.


Assuntos
Triagem e Testes Direto ao Consumidor , Médicos , Humanos , Testes Genéticos/métodos , Comunicação , Confiança
8.
Eur J Public Health ; 31(31 Suppl 1): i71-i79, 2021 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-34240156

RESUMO

BACKGROUND: Schools are key settings for delivering mental illness prevention in adolescents. Data on stakeholders' attitudes and factors relevant for the implementation of Internet-based prevention programmes are scarce. METHODS: Stakeholders in the school setting from Austria and Spain were consulted. Potential facilitators (e.g. teachers and school psychologists) completed an online questionnaire (N=50), policy makers (e.g. representatives of the ministry of education and health professional associations) participated in semi-structured interviews (N=9) and pupils (N=29, 14-19 years) participated in focus groups. Thematic analysis was used to identify experiences with, attitudes and needs towards Internet-based prevention programmes, underserved groups, as well as barriers and facilitators for reach, adoption, implementation and maintenance. RESULTS: Experiences with Internet-based prevention programmes were low across all stakeholder groups. Better reach of the target groups was seen as main advantage whereas lack of personal contact, privacy concerns, risk for misuse and potential stigmatization when implemented during school hours were regarded as disadvantages. Relevant needs towards Internet-based programmes involved attributes of the development process, general requirements for safety and performance, presentation of content, media/tools and contact options of online programmes. Positive attitudes of school staff, low effort for schools and compatibility to schools' curriculum were seen as key factors for successful adoption and implementation. A sound implementation of the programme in the school routine and continued improvement could facilitate maintenance of online prevention initiatives in schools. CONCLUSIONS: Attitudes towards Internet-based mental illness prevention programmes in school settings are positive across all stakeholder groups. However, especially safety concerns have to be considered.


Assuntos
Intervenção Baseada em Internet , Adolescente , Áustria , Humanos , Saúde Mental , Serviços de Saúde Escolar , Instituições Acadêmicas , Espanha
9.
J Genet Couns ; 30(5): 1468-1479, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33830600

RESUMO

Conscience clauses are laws that allow healthcare providers to refuse to participate in legal medical services based on moral or ethical objections. Genetic counselors encounter a variety of ethical and moral issues, including counseling about abortions. Currently, three states (Oklahoma, Nebraska, and Virginia) have genetic counseling conscience clause laws that allow genetic counselors to refuse to counsel about abortions. Conscience clause laws applying to physicians and pharmacists have been studied; however, they have not been studied in genetic counseling to date. We conducted an exploratory study assessing conscience clause awareness, attitudes, perceived obligations if utilizing a conscience clause, and alignment with the National Society of Genetic Counseling (NSGC) Code of Ethics. Genetic counselors (n = 274) currently practicing in the United States completed an online survey recruited through the NSGC listserv. The majority of participants were not aware that conscience clauses exist for genetic counseling (90%). There was uncertainty about whether genetic counselors had the right to utilize a conscience clause in practice (24% said yes, 31% said no, and 45% were unsure/needed more information). The majority reported an obligation to refer a patient if implementing a conscience clause (90%), although there were discrepancies among what constitutes an appropriate referral. When asked about the interaction between conscience clauses and the NSGC Code of Ethics, 45% believe they are separate and one does not supersede the other, 31% felt the Code of Ethics supersedes, 8% felt conscience clauses supersede, and 16% were unsure. Our study shows overall uncertainty with how conscience clause laws may be applied in clinical practice. Further clarity and education, especially in states where these laws exist, is critical to navigate the interaction between conscience clause laws and genetic counseling practice.


Assuntos
Aborto Induzido , Consciência , Atitude , Feminino , Aconselhamento Genético , Humanos , Princípios Morais , Gravidez , Estados Unidos
10.
Psychother Res ; 31(4): 443-454, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32662323

RESUMO

AbstractIntroduction: Generalized anxiety disorder (GAD) is prevalent among college students. Smartphone-based interventions may be a low-cost treatment method. Method: College students with self-reported GAD were randomized to receive smartphone-based guided self-help (n = 50), or no treatment (n = 50). Post-treatment and six-month follow-up outcomes included the Depression Anxiety Stress Scales-Short Form Stress Subscale (DASS Stress), the Penn State Worry Questionnaire (PSWQ-11), and the State-Trait Anxiety Inventory-Trait (STAI-T), as well as diagnostic status assessed by the GAD-Questionnaire, 4th edition. Results: From pre- to post-treatment, participants who received guided self-help (vs. no treatment) experienced significantly greater reductions on the DASS Stress (d = -0.408) and a greater probability of remission from GAD (d = -0.445). There was no significant between-group difference in change on the PSWQ-11 (d = -0.208) or STAI-T (d = -0.114). From post to six-month follow-up there was no significant loss of gains on DASS Stress scores (d = -0.141) and of those who had remitted, 78.6% remained remitted. Yet rates of remitted participants no longer differed significantly between conditions at follow-up (d = -0.229). Conclusion: Smartphone-based interventions may be efficacious in treating some aspects of GAD. Methods for improving symptom reduction and long-term outcome are discussed.


Assuntos
Transtornos de Ansiedade , Smartphone , Ansiedade , Transtornos de Ansiedade/terapia , Humanos , Autorrelato
11.
S D Med ; 74(7): 294-301, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34449988

RESUMO

INTRODUCTION: A major goal of the current personalized medicine era is to utilize pharmacogenetics (PGx) in order to influence how medications and therapies are prescribed by providers. However, disparities for prescribing medications between adults and children exist. Research has shown that children are not just small adults and there are different challenges for pediatric providers in regards to ordering and interpreting PGx tests. The goal of this study was to obtain an initial understanding of current pharmacogenetic testing by pediatric providers, as well as determine perceived barriers. METHODS: We distributed an online survey to pediatric providers at six different institutions across the U.S. RESULTS: Of the 252 respondents who completed the survey, 24 percent reported previously ordering PGx tests, however, over 90 percent of respondents reported they would feel more comfortable ordering and interpreting results with the assistance of a pharmacist, geneticist, genetic counselor or PGx expert. Additionally, participants identified specific barriers towards the utilization of PGx testing, as well as suggested solutions to overcome these barriers, including increasing provider education regarding testing, collaboration through a multidisciplinary team approach and established PGx programs. CONCLUSION: As the pharmacogenetic field continues to demonstrate clinical utility in the pediatric population, it will be important to continuously identify and address barriers that exist for providers to allow for more successful implementation of PGx in the pediatric setting, as well as enhance patient care.


Assuntos
Farmacogenética , Médicos , Adulto , Criança , Humanos , Farmacêuticos , Testes Farmacogenômicos , Medicina de Precisão
12.
Clin Genet ; 95(6): 677-683, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30847900

RESUMO

Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a novel measure of state-based hope, and test relationships among uncertainty, hope, spirituality, and coping efficacy in mothers of children with DBMD. Mothers (n = 202) were recruited through DuchenneConnect, Parent Project Muscular Dystrophy, and Cincinnati's Children Hospital. A one-component solution for the novel Parent Hope Scale explained 44.3% of the variance, and the measure showed high internal consistency. Higher hope (P < 0.001), further disease progression (P = 0.042), and older mother's age (P = 0.001) were significantly associated with lower perceptions of uncertainty. Mothers reporting less hope (P < 0.001), higher perceptions of uncertainty (P < 0.001), and less spirituality (P = 0.001) reported lower coping efficacy. As such, hope appears to be a key variable in shaping uncertainty appraisals and facilitating coping efficacy. While further research is needed, counseling aimed at bolstering hope, particularly among less-hopeful mothers, and interventions to reappraise uncertainty, may be helpful in promoting coping efficacy.


Assuntos
Cuidadores/psicologia , Esperança , Distrofia Muscular de Duchenne/psicologia , Incerteza , Adaptação Psicológica , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Demografia , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Mães , Motivação , Análise de Regressão , Espiritualidade , Inquéritos e Questionários , Adulto Jovem
13.
J Genet Couns ; 27(4): 800-813, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29204809

RESUMO

While traditional components of genetic counseling sessions are well recognized, less is known about insurance and financial discussions. This study sought to examine "genesurance counseling" which we defined as: that portion of a genetic counseling session, whether intentional or non-intentional, that is devoted to the topic of costs and insurance/third party coverage (particularly for genetic testing). Our objective was to assess genetic counselors' practices and perspective related to genesurance counseling. A survey link was sent by e-mail to members of the National Society of Genetic Counselors (approximately 3100 NSGC members). A total of 571 genetic counselors participated in the survey of which 550 identified as clinical genetic counselors. Survey data were used to investigate differences between specialties, impact on patient rapport, changes in practice dynamics, and devotion of clinic time. Overwhelmingly, 99% of participants acknowledged conducting genesurance counseling, 87% believed it to be part of their job description, and 85% viewed it as an important aspect of genetic counseling. On average, respondents estimated they devoted 10% of their session, or 6 min, to genesurance counseling. Of the surveyed participants, 95% reported genesurance counseling as having some form of influence in a patient's decision regarding genetic testing, and 74% stated that genesurance counseling concerns change the practice and dynamic of their clinic. "Genesurance counseling" is not a topic which has been studied to date. Our study highlights the changes in genetic counselors' roles and responsibilities regarding insurance and financial counseling.


Assuntos
Conselheiros , Aconselhamento Genético , Cobertura do Seguro , Papel Profissional , Adulto , Feminino , Aconselhamento Genético/economia , Testes Genéticos , Humanos , Masculino , Comportamento Social , Inquéritos e Questionários
14.
J Med Internet Res ; 20(12): e296, 2018 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-30552078

RESUMO

BACKGROUND: Web-based preventive interventions can reduce risk and incidence of bulimia and binge eating disorders among young high-risk women. However, their specific effects on core symptoms of anorexia nervosa (AN) are rather weak. OBJECTIVE: The primary objective of this study was to evaluate the efficacy of an indicated, parent-based, Web-based preventive program Eltern als Therapeuten (E@T) in reducing risk factors and symptoms of AN. METHODS: Girls aged between 11 and 17 years were screened by selected risk factors and early symptoms of AN. At-risk families were then randomized to E@T or an assessment-only control condition. Assessments took place at pre- and postintervention (6 weeks later) and at 6- and 12-month follow-up (FU). RESULTS: A total of 12,377 screening questionnaires were handed out in 86 German schools, and 3941 including consent returned. Overall, 477 (447/3941, 12.10%) girls were identified as at risk for AN and 256 of those could be contacted. In all, 66 families (66/256, 25.8% of those contacted) were randomized to the E@T or a wait-list control condition, 43 (43/66, 65%) participated in postassessments, and 27 (27/66, 41%) in 12-month FUs. Due to low participation and high dropout rates of parents, recruitment was terminated prematurely. At 12-month FU, girls' expected body weight (EBW) percentage was significantly greater for intervention participants compared with control participants (group by time interaction beta=21.0 [CI 5.81 to 36.13], P=.007; group by time squared interaction beta=-15.5 [CI -26.6 to -4.49], P=.007; estimated Cohen d=0.42]. No other significant effects were found on risk factors and attitudes of disturbed eating. CONCLUSIONS: Despite a significant increase in girls' EBW percentage, parental participation and adherence to the intervention were low. Overall, parent-based, indicated prevention for children at risk for AN does not seem very promising, although it might be useful for parents who engage in the intervention. TRIAL REGISTRATION: International Standard Randomized Controlled Trial Number (ISRCTN): 18614564; http://www.isrctn.com/ISRCTN18614564 (Archived by WebCite at http://www.webcitation.org/74FTV1EpF).


Assuntos
Anorexia Nervosa/prevenção & controle , Internet , Pais/psicologia , Adolescente , Peso Corporal , Criança , Feminino , Humanos , Fatores de Risco
15.
S D Med ; Spec No: 34-36, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28817860

RESUMO

Personalized medicine and patient engagement have become common buzzwords in the context of health care reform. Independently both concepts have showed some promise in impacting health outcomes, but when synergistically applied, they have more power, as both are critical pieces of personalized health care (PHC). PHC is a health care model that embraces the need for patient engagement along with personalized medicine technologies to make the health care process more personalized, patient-driven, and proactive. Primary care presents an ideal setting for the application of PHC through the use of patient engagement techniques such as patient portals, patient-generated health data, and self-management programs, with the goal of supporting a preventative proactive health care approach.


Assuntos
Participação do Paciente/métodos , Medicina de Precisão/métodos , Atenção Primária à Saúde , Humanos , Modelos Organizacionais , Serviços Preventivos de Saúde/métodos , Serviços Preventivos de Saúde/organização & administração , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/organização & administração , Atenção Primária à Saúde/normas , Melhoria de Qualidade
16.
Abdom Imaging ; 39(5): 1114-8, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24740761

RESUMO

PURPOSE: To evaluate if and to what extent the degree of subspecialization in abdominal imaging (AI) affects rates of discrepancies identified on review of body CT studies initially interpreted by board-certified radiologists not specialized in AI. METHOD AND MATERIALS: AI division radiologists at one academic medical center were classified as primary or secondary members of the division based on whether they perform more or less than 50% of their clinical duties in AI. Primary AI division radiologists were further subdivided based on whether or not they focus their clinical duties almost exclusively in AI. All AI radiologists performed subspecialty review of all after-hours body CT studies initially interpreted by any non-division radiologist. The discrepancies identified in the subspecialty review of consecutive after-hours body CT scans performed between 7/1/10 and 12/31/10 were analyzed and placed into one of three categories: (1) discrepancies that potentially affect patient care ("clinically relevant discrepancies", or CRD); (2) discrepancies that would not affect patient care ("incidental discrepancies", or ID); and (3) other types of comments. Rates of CRD and ID detection were compared between subgroups of Abdominal Imaging Division radiologists divided by the degree of subspecialization. RESULTS: 1303 studies met the inclusion criteria. Of 742 cases reviewed by primary members of the AI division, 33 (4.4%) had CRD and 78 (10.5%) had ID. Of 561 cases reviewed by secondary members of the AI division, 11 (2.0%) had CRD and 36 (6.5%) had ID. The differences between the groups for both types of discrepancies were statistically significant (p = 0.01). When primary members of the AI division were further subdivided based on extent of clinical focus on abdominal imaging, rates of CRD and ID detection were higher for the subgroup with more clinical focus on abdominal imaging. CONCLUSION: The degree of AI subspecialization affects the rate of clinically relevant and ID identified in body CT interpretations initially rendered by board certified but non-abdominal imaging subspecialized radiologists.


Assuntos
Plantão Médico/estatística & dados numéricos , Emergências , Revisão por Pares/métodos , Radiografia Abdominal/métodos , Especialização , Tomografia Computadorizada por Raios X/métodos , Plantão Médico/métodos , Humanos , Variações Dependentes do Observador , Radiografia Abdominal/estatística & dados numéricos , Radiologia/métodos , Radiologia/estatística & dados numéricos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/estatística & dados numéricos
17.
Per Med ; 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38722226

RESUMO

Background: Statins are commonly used medications. Variants in SLCO1B1, CYP2C9, and ABCG2 are known predictors of muscle effects when taking statins. More exploratory genes include RYR1 and CACNA1S, which can also be associated with disease conditions. Methods: Patients with pathogenic/likely pathogenic variants in RYR1 or CACNA1S were identified through an elective genomic testing program. Through chart review, patients with a history of statin use were assessed for statin-associated muscle symptoms (SAMS) along with collection of demographics and other known risk factors for SAMS. Results: Of the 23 patients who had a pathogenic or likely pathogenic RYR1 or CACNA1S variant found, 12 had previous statin use; of these, SAMS were identified in four patients. Conclusion: These data contribute to previous literature suggesting patients with RYR1 variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.

18.
Cureus ; 16(1): e51672, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38313918

RESUMO

In this systematic review and meta-analysis, we explored the utilization of cardiac magnetic resonance imaging (CMR) to detect fibrotic changes secondary to uremic cardiomyopathy during the early stages of chronic kidney disease (CKD) and in patients with end-stage kidney disease (ESKD). Uremic myocardial fibrosis can lead to arrhythmia and heart failure, and it is important to detect these changes. CMR offers a noninvasive way to characterize the severity of cardiac remodeling. A comprehensive search of multiple electronic databases was conducted. Studies were divided according to scanner field strength (1.5 or 3 Tesla). The random effects model was used to calculate the pooled mean, 95% confidence interval (CI), standard error, and standardized mean difference (SMD). The I2 statistic was used to assess the heterogeneity between study-specific estimates. The search retrieved 779 studies. From these, 20 studies met the inclusion criteria and had 642 CKD patients (mean age of 56.8 years; 65.2% males; mean estimated glomerular filtration rate (eGFR) of 33 mL/min/1.73 m2) and 658 ESKD patients on dialysis (mean age of 55.6 years; 63.3% males; mean dialysis duration of 3.47 years). CKD patients had an increased left ventricular mass index (LVMi) compared to controls, with an SMD of 0.37 (95% CI: 0.20-0.54; I2 0%; p-value <0.05). ESKD patients also had increased LVMi compared to controls, SMD 0.88 (95% CI: 0.35-1.41; I2 79.1%; p-value 0.001). Myocardial fibrosis assessment using T1 mapping showed elevated values; the SMD of native septal T1 values between CKD and controls was 1.099 (95% CI: 0.73-1.46; I2 33.6%; p-value <0.05), and the SMD of native septal T1 values between ESKD patients and controls was 1.12 (95% CI: 0.85-1.38; I2 33.69%; p-value <0.05). In conclusion, patients with CKD and ESKD with preserved left ventricular ejection fraction (LVEF) have higher LVMi and T1 values, indicating increased mass and fibrosis. T1 mapping can be used for the early detection of cardiomyopathy and as a risk stratification tool. Large, randomized trials are needed to confirm these findings and determine the effect of long-term dialysis on cardiac fibrosis.

19.
BJPsych Open ; 9(1): e29, 2023 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-36715086

RESUMO

BACKGROUND: It is well established that maternal mental illness is associated with an increased risk of poor development for children. However, inconsistencies in findings regarding the nature of the difficulties children experience may be explained by methodological or geographical differences. AIMS: We used a common methodological approach to compare developmental vulnerability for children whose mothers did and did not have a psychiatric hospital admission between conception and school entry in Manitoba, Canada, and Western Australia, Australia. We aimed to determine if there are common patterns to the type and timing of developmental difficulties across the two settings. METHOD: Participants included children who were assessed with the Early Development Instrument in Manitoba, Canada (n = 69 785), and Western Australia, Australia (n = 19 529). We examined any maternal psychiatric hospital admission (obtained from administrative data) between conception and child's school entry, as well as at specific time points (pregnancy and each year until school entry). RESULTS: Log-binomial regressions modelled the risk of children of mothers with psychiatric hospital admissions being developmentally vulnerable. In both Manitoba and Western Australia, an increased risk of developmental vulnerability on all domains was found. Children had an increased risk of developmental vulnerability regardless of their age at the time their mother was admitted to hospital. CONCLUSIONS: This cross-national comparison provides further evidence of an increased risk of developmental vulnerability for children whose mothers experience severe mental health difficulties. Provision of preventative services during early childhood to children whose mothers experience mental ill health may help to mitigate developmental difficulties at school entry.

20.
Child Abuse Negl ; 142(Pt 1): 105594, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-35459527

RESUMO

BACKGROUND: Exposure to family and domestic violence (FDV) in childhood can have a detrimental effect on children's health and social outcomes. However, research on the school outcomes of children exposed to FDV is scant. OBJECTIVES: To investigate the impact of FDV exposure on school attendance and suspension in Aboriginal and non-Aboriginal children. METHODS: A population-based retrospective cohort study of school children, in grade 1 to 10, born from 1993 to 2006 in Western Australia (n = 26,743) using linked administrative data. Multivariate logistic regression analysis was used to calculate odds ratios and 95% confidence intervals to determine the association with school attendance and suspension outcomes for children exposed to FDV compared to non-exposed children. RESULTS: Compared to non-exposed children, children exposed to FDV have an increase of poor school attendance: Aboriginal children adjusted odds ratio (aOR) = 1.91, 95% confidence interval (CI): 1.75-2.07, non-Aboriginal children aOR = 2.42, 95%CI: 2.12-2.75. FDV-exposed children also have an increased risk of school suspension: Aboriginal children aOR = 1.60, 95%CI: 1.47-1.74, non-Aboriginal children aOR = 2.68, 95%CI: 2.35-3.05, compared to non-exposed counterparts. CONCLUSION: Exposure to FDV is associated with an increased odds of poor school attendance and school suspension. Evidence-based and innovative strategies are needed to support children who are exposed to FDV. This involves responding in ways that does not cause further trauma to children; a restorative and trauma-informed approach is vital.


Assuntos
Violência Doméstica , Exposição à Violência , Criança , Humanos , Estudos Retrospectivos , Estudantes , Instituições Acadêmicas
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