-
Journal of Clinical Neuromuscular... Jun 2023The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated...
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.
Topics: Humans; Mutation; Phenotype; Genetic Testing; Muscle, Skeletal; Muscular Dystrophy, Duchenne
PubMed: 37219861
DOI: 10.1097/CND.0000000000000436 -
Birth (Berkeley, Calif.) Mar 2021Postpartum anemia can negatively affect maternal health and interfere with early parenting. Thus, it is important to have clear, evidence-informed recommendations on its... (Review)
Review
BACKGROUND
Postpartum anemia can negatively affect maternal health and interfere with early parenting. Thus, it is important to have clear, evidence-informed recommendations on its diagnosis and treatment.
OBJECTIVE
To compare global recommendations regarding the appropriate management of postpartum anemia and to highlight similarities and differences.
METHODS
Systematic searches were conducted in the databases PubMed, CINAHL, LILACS, TRIP database, and Scopus, and in the websites of health institutions and scientific societies. Search terms were related to anemia and the postpartum period. Two hundred and eighty papers were identified; the full texts of 30 sets of guidelines were reviewed, with seven being included in the final analysis. Recommendations were extracted through an evaluation of the evidence on the definition, screening, and diagnosis of anemia. The quality of the guidelines was assessed using the AGREE II instrument.
RESULTS
Two sets of guidelines have been elaborated by international organizations, and the rest were produced by professional associations within high-resource countries. The discrepancies found in the guidelines are important and affect the definition of anemia, the criteria for screening asymptomatic women, or the criteria guiding treatment. The quality of the guidelines commonly scored between 4 and 6 on a scale of 0 to 7. Recommendations with poor-quality evidence predominated over recommendations with high-quality evidence.
CONCLUSIONS
This review highlights the need to reach a consensus on the definition of postpartum anemia, to agree on what constitutes a problem for maternal health, and to provide recommendations that reach greater consensus on its diagnosis and treatment.
Topics: Anemia; Female; Humans; Mass Screening; Postpartum Period
PubMed: 33274766
DOI: 10.1111/birt.12519 -
Journal of Neurology Feb 2022To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the... (Review)
Review
OBJECTIVE
To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support.
METHODS
Four databases were systematically searched for articles published from 2009 to 2020. Peer-reviewed research articles in English that reported research and clinical genetic counseling and testing practices for LONDs were included. A narrative synthesis was conducted to describe different practices and map genetic counseling activities to the goals. Risk of bias was assessed using the Qualsyst tool. The protocol was registered with PROSPERO (CRD42019121421).
RESULTS
Sixty-one studies from 68 papers were included. Most papers focused on predictive testing (58/68) and Huntington's disease (41/68). There was variation between papers in study design, study population, outcomes, interventions, and settings. Although there were commonalities, novel and inconsistent genetic counseling practices were identified. Eighteen papers addressed all four goals of genetic counseling.
CONCLUSION
Contemporary genetic counseling and testing practices for LONDs are varied and informed by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. As genetic testing becomes a routine part of care for patients (and their relatives), health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice.
Topics: Counseling; Genetic Counseling; Genetic Testing; Humans; Neurodegenerative Diseases
PubMed: 33649871
DOI: 10.1007/s00415-021-10461-5 -
Disability and Rehabilitation Apr 2022Red Flags (RFs) are signs and symptoms related to the screening of serious underlying pathologies mimicking a musculoskeletal pain. The current literature wonders about...
PURPOSE
Red Flags (RFs) are signs and symptoms related to the screening of serious underlying pathologies mimicking a musculoskeletal pain. The current literature wonders about the usefulness of RFs, due to high false-positive rates and low diagnostic accuracy. The aims of this systematic review are: (a) to identify and (b) to evaluate the most important RFs that could be found by a health care professional during the assessment of patients with low and upper back pain (named as thoracolumbar pain (TLP)) to screen serious pathologies.
MATERIALS AND METHODS
A systematic review of the literature was conducted. Searches were performed on seven databases (Pubmed, Web of Science, Cochrane Library, Pedro, Scielo, CINAHL, and Google Scholar) between March 2019 and June 2020, using a search string which included synonyms of low back pain (LBP), chest pain (CP), differential diagnosis, RF, and serious disease. Only observational studies enrolling patients with LBP or CP were included. Risk of bias was assessed with the Newcastle Ottawa Scale and inter-rater agreement between authors for full-text selection was evaluated with Cohen's Kappa. Where possible the diagnostic accuracy was recorded for sensitivity (Sn), specificity (Sp), and positive/negative likelihood ratio (LR+/LR-).
RESULTS
Forty full-texts were included. Most of the included observational studies were judged as low risk of bias, and Cohen's Kappa was good (=0.78). The identified RFs were: advanced age; neurological signs; history of trauma; malignancy; female gender; corticosteroids use; night pain; unintentional weight loss; bladder or bowel dysfunction; loss of anal sphincter tone; saddle anaesthesia; constant pain; recent infection; family or personal history of heart or pulmonary diseases; dyspnoea; fever; postprandial CP; typical reflux symptoms; haemoptysis; sweating; pain radiated to upper limbs; hypotension; retrosternal pain; exertional pain; diaphoresis; and tachycardia. The diagnostic accuracy of RFs as self-contained screening tool was low, while the combination of multiple RFs showed to increase the probability to identify serious pathologies.
CONCLUSIONS
Despite the use of single RF should not be recommended for the screening process in clinical practice, the combination of multiple RFs to enhance diagnostic accuracy is promising. Moreover, the identified RFs could be a baseline to develop a screening tool for patients with TLP.Implications for rehabilitationDifferential diagnosis and screening for referral are mandatory skills for each healthcare professional in direct access clinical settings, and should be the primary step for an appropriate management of a patient with signs and symptoms mimicking serious pathologies in thoracolumbar region.Clinical reasoning and decision-making processes are essential throughout all phases of a patient's pathway of care. By which, the use of single Red Flag (RF) as a self-contained screening tool should not be recommended. The combination of multiple RFs promises to increase diagnostic accuracy and could grow into an excellent screening tool for thoracolumbar pain.
Topics: Female; Humans; Back Pain; Dyspnea; Low Back Pain; Mass Screening
PubMed: 32813559
DOI: 10.1080/09638288.2020.1804626 -
Psychological Medicine Jun 2020Item 9 of the Patient Health Questionnaire-9 (PHQ-9) queries about thoughts of death and self-harm, but not suicidality. Although it is sometimes used to assess suicide... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Item 9 of the Patient Health Questionnaire-9 (PHQ-9) queries about thoughts of death and self-harm, but not suicidality. Although it is sometimes used to assess suicide risk, most positive responses are not associated with suicidality. The PHQ-8, which omits Item 9, is thus increasingly used in research. We assessed equivalency of total score correlations and the diagnostic accuracy to detect major depression of the PHQ-8 and PHQ-9.
METHODS
We conducted an individual patient data meta-analysis. We fit bivariate random-effects models to assess diagnostic accuracy.
RESULTS
16 742 participants (2097 major depression cases) from 54 studies were included. The correlation between PHQ-8 and PHQ-9 scores was 0.996 (95% confidence interval 0.996 to 0.996). The standard cutoff score of 10 for the PHQ-9 maximized sensitivity + specificity for the PHQ-8 among studies that used a semi-structured diagnostic interview reference standard (N = 27). At cutoff 10, the PHQ-8 was less sensitive by 0.02 (-0.06 to 0.00) and more specific by 0.01 (0.00 to 0.01) among those studies (N = 27), with similar results for studies that used other types of interviews (N = 27). For all 54 primary studies combined, across all cutoffs, the PHQ-8 was less sensitive than the PHQ-9 by 0.00 to 0.05 (0.03 at cutoff 10), and specificity was within 0.01 for all cutoffs (0.00 to 0.01).
CONCLUSIONS
PHQ-8 and PHQ-9 total scores were similar. Sensitivity may be minimally reduced with the PHQ-8, but specificity is similar.
Topics: Depressive Disorder, Major; Female; Humans; Interviews as Topic; Male; Mass Screening; Middle Aged; Patient Health Questionnaire; Sensitivity and Specificity
PubMed: 31298180
DOI: 10.1017/S0033291719001314 -
Expert Review of Cardiovascular Therapy Dec 2020Human African Trypanosomiasis is a neglected tropical disease resulting from the infection with the parasite Trypanosoma brucei. Neurological compromise often dominates,...
INTRODUCTION
Human African Trypanosomiasis is a neglected tropical disease resulting from the infection with the parasite Trypanosoma brucei. Neurological compromise often dominates, and the impact of cardiovascular involvement has not been fully investigated. Recently, publications indicate that cardiovascular compromise is more frequent than previously thought. Early detection of cardiac complications may be of utmost importance for healthcare teams.
AREA COVERED
As a part of the 'Neglected Tropical Diseases and other Infectious Diseases involving the Heart' (the NET-Heart Project), the purpose of this article is to review all the information available regarding cardiovascular implications of this disease, focusing on diagnosis and treatment, and proposing strategies for early detection of cardiac manifestations. An electronic systematic literature review of articles published in MEDLINE, PubMed and EMBASE was performed. From 50 initial studies, 18 were selected according to inclusion criteria. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used for conducting and reporting this review.
EXPERT OPINION
Cardiovascular compromise through infiltrative and inflammatory mechanisms seems to be frequent, and includes a wide spectrum of severity. Conventional 12-lead electrocardiogram could be a useful test for screening cardiovascular manifestations and used as a guide for considering specific treatments or more sophisticated diagnostic tools.
Topics: Animals; Electrocardiography; Heart Diseases; Humans; Mass Screening; Trypanosomiasis, African
PubMed: 32967478
DOI: 10.1080/14779072.2020.1828066 -
European Journal of Human Genetics :... Dec 2022Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on... (Review)
Review
Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals' knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals on the ethical and legal issues pertaining to DTC-GT. A systematic search was performed to identify all relevant studies that have been conducted since 2012. Studies fulfilled the inclusion criteria if they were primary research papers conducted on healthcare professionals about their knowledge and views on health-related DTC-GT. PubMed, Embase, CINAHL, PsycINFO and Medline databases were searched from 2012 to May 2021. Title and abstract were screened, and full texts were reviewed by two study authors independently. New papers included were appraised and data were extracted on study characteristics, knowledge and views on DTC-GT, and ethical and legal issues. A narrative synthesis was conducted. Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals' knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review. This emphasises the need for further medical learning opportunities to improve the gaps in knowledge amongst healthcare professionals about DTC-GT.
Topics: Humans; Delivery of Health Care; Direct-To-Consumer Screening and Testing; Genetic Testing; Health Personnel; Morals
PubMed: 36220915
DOI: 10.1038/s41431-022-01205-8 -
Patient Education and Counseling Feb 2014To evaluate published evidence about health literacy and cancer screening. (Review)
Review
OBJECTIVE
To evaluate published evidence about health literacy and cancer screening.
METHODS
Seven databases were searched for English language articles measuring health literacy and cancer screening published in 1990-2011. Articles meeting inclusion criteria were independently reviewed by two investigators using a standardized data abstraction form. Abstracts (n=932) were reviewed and full text retrieved for 83 articles. Ten articles with 14 comparisons of health literacy and cancer screening according to recommended medical guidelines were included in the analysis.
RESULTS
Most articles measured health literacy using the S-TOFHLA instrument and documented cancer screening by self-report. There is a trend for an association of inadequate health literacy and lower cancer screening rates, however, the evidence is mixed and limited by study design and measurement issues.
CONCLUSION
A patient's health literacy may be a contributing factor to being within recommended cancer screening guidelines.
PRACTICE IMPLICATIONS
Future research should: be conducted using validated health literacy instruments; describe the population included in the study; document cancer screening test completion according to recommended guidelines; verify the completion of cancer screening tests by medical record review; adjust for confounding factors; and report effect size of the association of health literacy and cancer screening.
Topics: Early Detection of Cancer; Health Knowledge, Attitudes, Practice; Health Literacy; Humans; Mass Screening; Neoplasms
PubMed: 24207115
DOI: 10.1016/j.pec.2013.10.001 -
International Wound Journal Feb 2020Early reliable, valid screening, diagnosis, and treatment improve peripheral arterial disease outcomes, yet screening and diagnostic practices vary across settings and...
Early reliable, valid screening, diagnosis, and treatment improve peripheral arterial disease outcomes, yet screening and diagnostic practices vary across settings and specialties. A scoping literature review described reliability and validity of peripheral ischaemia diagnosis or screening tools. Clinical studies in the PUBMED database January 1, 1970, to August 13, 2018, were reviewed summarising ranges of reliability and validity of peripheral ischaemia diagnostic and screening tools for patients with non-neuropathic lower leg ischaemia. Peripheral ischaemia screening and diagnostic practices varied in parameters measured such as timing, frequency, setting, ordering clinicians, degree of invasiveness, costs, definitions, and cut-off points informing clinical and referral decisions. Traditional ankle/brachial systolic blood pressure index <0.9 was a reliable, valid lower leg ischaemia screening test to trigger specialist referral for detailed diagnosis. For patients with advanced peripheral ischaemia or calcified arteries, toe-brachial index, claudication, or invasive angiographic imaging techniques that can have complications were reliable, valid screening, and diagnostic tools to inform management decisions. Ankle/brachial index testing is sufficiently reliable and valid for use during routine examinations to improve timing and consistency of peripheral ischaemia screening, triggering prompt specialist referral for more reliable, accurate Doppler, or other diagnosis to inform treatment decisions.
Topics: Adult; Aged; Aged, 80 and over; Diagnostic Techniques and Procedures; Female; Humans; Male; Mass Screening; Middle Aged; Peripheral Arterial Disease; Practice Guidelines as Topic; Reproducibility of Results
PubMed: 31680419
DOI: 10.1111/iwj.13223 -
Health Technology Assessment... May 2017Atrial fibrillation (AF) is a common cardiac arrhythmia that increases the risk of thromboembolic events. Anticoagulation therapy to prevent AF-related stroke has been... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Atrial fibrillation (AF) is a common cardiac arrhythmia that increases the risk of thromboembolic events. Anticoagulation therapy to prevent AF-related stroke has been shown to be cost-effective. A national screening programme for AF may prevent AF-related events, but would involve a substantial investment of NHS resources.
OBJECTIVES
To conduct a systematic review of the diagnostic test accuracy (DTA) of screening tests for AF, update a systematic review of comparative studies evaluating screening strategies for AF, develop an economic model to compare the cost-effectiveness of different screening strategies and review observational studies of AF screening to provide inputs to the model.
DESIGN
Systematic review, meta-analysis and cost-effectiveness analysis.
SETTING
Primary care.
PARTICIPANTS
Adults.
INTERVENTION
Screening strategies, defined by screening test, age at initial and final screens, screening interval and format of screening {systematic opportunistic screening [individuals offered screening if they consult with their general practitioner (GP)] or systematic population screening (when all eligible individuals are invited to screening)}.
MAIN OUTCOME MEASURES
Sensitivity, specificity and diagnostic odds ratios; the odds ratio of detecting new AF cases compared with no screening; and the mean incremental net benefit compared with no screening.
REVIEW METHODS
Two reviewers screened the search results, extracted data and assessed the risk of bias. A DTA meta-analysis was perfomed, and a decision tree and Markov model was used to evaluate the cost-effectiveness of the screening strategies.
RESULTS
Diagnostic test accuracy depended on the screening test and how it was interpreted. In general, the screening tests identified in our review had high sensitivity (> 0.9). Systematic population and systematic opportunistic screening strategies were found to be similarly effective, with an estimated 170 individuals needed to be screened to detect one additional AF case compared with no screening. Systematic opportunistic screening was more likely to be cost-effective than systematic population screening, as long as the uptake of opportunistic screening observed in randomised controlled trials translates to practice. Modified blood pressure monitors, photoplethysmography or nurse pulse palpation were more likely to be cost-effective than other screening tests. A screening strategy with an initial screening age of 65 years and repeated screens every 5 years until age 80 years was likely to be cost-effective, provided that compliance with treatment does not decline with increasing age.
CONCLUSIONS
A national screening programme for AF is likely to represent a cost-effective use of resources. Systematic opportunistic screening is more likely to be cost-effective than systematic population screening. Nurse pulse palpation or modified blood pressure monitors would be appropriate screening tests, with confirmation by diagnostic 12-lead electrocardiography interpreted by a trained GP, with referral to a specialist in the case of an unclear diagnosis. Implementation strategies to operationalise uptake of systematic opportunistic screening in primary care should accompany any screening recommendations.
LIMITATIONS
Many inputs for the economic model relied on a single trial [the Screening for Atrial Fibrillation in the Elderly (SAFE) study] and DTA results were based on a few studies at high risk of bias/of low applicability.
FUTURE WORK
Comparative studies measuring long-term outcomes of screening strategies and DTA studies for new, emerging technologies and to replicate the results for photoplethysmography and GP interpretation of 12-lead electrocardiography in a screening population.
STUDY REGISTRATION
This study is registered as PROSPERO CRD42014013739.
FUNDING
The National Institute for Health Research Health Technology Assessment programme.
Topics: Aged; Aged, 80 and over; Atrial Fibrillation; Blood Pressure; Cost-Benefit Analysis; Electrocardiography; Female; Humans; Male; Mass Screening; Models, Econometric; Patient Acceptance of Health Care; Primary Health Care; Pulse; Quality-Adjusted Life Years; Randomized Controlled Trials as Topic; Sensitivity and Specificity
PubMed: 28629510
DOI: 10.3310/hta21290