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Genetics in Medicine : Official Journal... Apr 2024Rare genetic neurodevelopmental disorders associated with intellectual disability require lifelong multidisciplinary care. Clinical practice guidelines may support... (Review)
Review
PURPOSE
Rare genetic neurodevelopmental disorders associated with intellectual disability require lifelong multidisciplinary care. Clinical practice guidelines may support healthcare professionals in their daily practice, but guideline development for rare conditions can be challenging. In this systematic review, the characteristics and methodological quality of internationally published recommendations for this population are described to provide an overview of current guidelines and inform future efforts of European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism, and Congenital Anomalies).
METHODS
MEDLINE, Embase, and Orphanet were systematically searched to identify guidelines for conditions classified as "rare genetic intellectual disability" (ORPHA:183757). Methodological quality was assessed using the Appraisal of Guidelines, Research, and Evaluation II tool.
RESULTS
Seventy internationally published guidelines, addressing the diagnosis and/or management of 28 conditions, were included. The methodological rigor of development was highly variable with limited reporting of literature searches and consensus methods. Stakeholder involvement and editorial independence varied as well. Implementation was rarely addressed.
CONCLUSION
Comprehensive, high-quality guidelines are lacking for many rare genetic neurodevelopmental disorders. Use and transparent reporting of sound development methodologies, active involvement of affected individuals and families, robust conflict of interest procedures, and attention to implementation are vital for enhancing the impact of clinical practice recommendations.
Topics: Humans; Intellectual Disability; Quality Improvement; Evidence-Based Medicine; Neurodevelopmental Disorders; Consensus
PubMed: 38224026
DOI: 10.1016/j.gim.2024.101071 -
Journal of the American Board of Family... 2021Substance use disorders (SUDs) are complex interactions between various genetic, environmental, developmental, and social factors. Yoga is recommended as a nonmainstream...
INTRODUCTION
Substance use disorders (SUDs) are complex interactions between various genetic, environmental, developmental, and social factors. Yoga is recommended as a nonmainstream treatment for many health conditions, including SUDs.
METHODS
Five databases were searched for randomized controlled trials (RCTs) that evaluated yoga as an intervention in adults with any type of substance use disorder. The interventions being studied included Hatha yoga, Sudarshan Kriya yoga, breathing yoga exercises, and meditation. Studies, where yoga was combined with other interventions were excluded. The effect of yoga as an intervention was analyzed using primary outcomes such as anxiety, pain, and craving. Eight RCTs met the eligibility criteria, and quality analysis was conducted using the Cochrane criteria.
RESULTS
Among the 8 final studies eligible for quality analysis, 2 had undefined substance use, while the others were focused on tobacco, alcohol, or opioids. Seven out of 8 studies showed significant results and improved primary outcomes such as anxiety, pain, or substance use. Seven out of the 8 studies showed significant positive outcomes using yoga in conjunction with other pharmacological treatment modalities like opioid substitution therapy.
CONCLUSIONS
Six out of 8 studies showed low concerns, while 2 studies showed some concerns about the risk of bias judgment. Although the results look encouraging, RCTs with larger sample size are needed to better evaluate the effectiveness of yoga as a treatment modality for substance use.
Topics: Adult; Anxiety; Anxiety Disorders; Humans; Meditation; Substance-Related Disorders; Yoga
PubMed: 34535521
DOI: 10.3122/jabfm.2021.05.210175 -
European Journal of Physical and... Jun 2021There has been an increase in the use of questionnaires as tools for the subjective evaluation of patients with neuro-musculoskeletal problems. The aim of this study was...
INTRODUCTION
There has been an increase in the use of questionnaires as tools for the subjective evaluation of patients with neuro-musculoskeletal problems. The aim of this study was to analyze the psychometric properties of the questionnaires published in Italian for the evaluation of cervical and lumbar spine pain and related dysfunction.
EVIDENCE ACQUISITION
Two blinded bibliographical searches were carried out on seven databases, regarding back, lumbar and/or cervical musculoskeletal problems. Both the structural characteristics and the psychometric aspects of each of the questionnaires were extracted from each of the selected articles. The structural characteristics were: full name, acronym, author and date of adaptation to the Italian language, what it measures, number of items, time to complete, the result scale, where the points are located and the cost. The psychometric aspects were: standard error of measurement (SEM), minimum detectable change (MDC), minimal clinically important difference (MCID), test-retest reliability, internal consistency, criterion validity, construct validity and sensitivity to changes.
EVIDENCE SYNTHESIS
For the structural characteristics of the questionnaires identified for the valuation of the lumbar area, the number of items ranged between 10 and 24. Only two of the questionnaires presented specific categories, and the time to complete ranged between 5 and 7 minutes. The reliability of the questionnaires ranged between 0.869 and 0.961. None of the questionnaires calculated the inter-observer reliability. The internal consistency ranged between 0.82 and 0.90 for criterion validity. None of the questionnaires calculated sensitivity, SEM, MDC or MCID, with the exception of the Fear-Avoidance Beliefs Questionnaire, which showed a value of 12 on MDC. For the assessment of the cervical region, the number of items ranged from 6 to 20. Three of the questionnaires had sub-categories, and the time to complete them ranged between 2 and 5 minutes. The test-retest reliability ranged between 0.78 and 0.997. The internal consistency ranged between 0.842 and 0.942.
CONCLUSIONS
The Italian versions of the questionnaires present good basic structural and psychometric characteristics for the evaluation of patients with back, lumbar and/or cervical musculoskeletal disorders. The analysis of the structural and psychometric characteristics of these questionnaires is fundamental to identify the best tools to use in research and in clinical practice.
Topics: Disability Evaluation; Humans; Italy; Low Back Pain; Musculoskeletal Pain; Neck Pain; Pain Measurement; Psychometrics; Surveys and Questionnaires; Translating
PubMed: 33258360
DOI: 10.23736/S1973-9087.20.06280-2 -
International Journal of Nursing Studies Aug 2014To determine the state of the science for the five standardized nursing terminology sets in terms of level of evidence and study focus. (Review)
Review
OBJECTIVE
To determine the state of the science for the five standardized nursing terminology sets in terms of level of evidence and study focus.
DESIGN
Systematic review.
DATA SOURCES
Keyword search of PubMed, CINAHL, and EMBASE databases from 1960s to March 19, 2012 revealed 1257 publications.
REVIEW METHODS
From abstract review we removed duplicate articles, those not in English or with no identifiable standardized nursing terminology, and those with a low-level of evidence. From full text review of the remaining 312 articles, eight trained raters used a coding system to record standardized nursing terminology names, publication year, country, and study focus. Inter-rater reliability confirmed the level of evidence. We analyzed coded results.
RESULTS
On average there were 4 studies per year between 1985 and 1995. The yearly number increased to 14 for the decade between 1996 and 2005, 21 between 2006 and 2010, and 25 in 2011. Investigators conducted the research in 27 countries. By evidence level for the 312 studies 72.4% were descriptive, 18.9% were observational, and 8.7% were intervention studies. Of the 312 reports, 72.1% focused on North American Nursing Diagnosis-International, Nursing Interventions Classification, Nursing Outcome Classification, or some combination of those three standardized nursing terminologies; 9.6% on Omaha System; 7.1% on International Classification for Nursing Practice; 1.6% on Clinical Care Classification/Home Health Care Classification; 1.6% on Perioperative Nursing Data Set; and 8.0% on two or more standardized nursing terminology sets. There were studies in all 10 foci categories including those focused on concept analysis/classification infrastructure (n=43), the identification of the standardized nursing terminology concepts applicable to a health setting from registered nurses' documentation (n=54), mapping one terminology to another (n=58), implementation of standardized nursing terminologies into electronic health records (n=12), and secondary use of electronic health record data (n=19).
CONCLUSIONS
Findings reveal that the number of standardized nursing terminology publications increased primarily since 2000 with most focusing on North American Nursing Diagnosis-International, Nursing Interventions Classification, and Nursing Outcome Classification. The majority of the studies were descriptive, qualitative, or correlational designs that provide a strong base for understanding the validity and reliability of the concepts underlying the standardized nursing terminologies. There is evidence supporting the successful integration and use in electronic health records for two standardized nursing terminology sets: (1) the North American Nursing Diagnosis-International, Nursing Interventions Classification, and Nursing Outcome Classification set; and (2) the Omaha System set. Researchers, however, should continue to strengthen standardized nursing terminology study designs to promote continuous improvement of the standardized nursing terminologies and use in clinical practice.
Topics: Observer Variation; Societies, Nursing; Terminology as Topic; United States
PubMed: 24412062
DOI: 10.1016/j.ijnurstu.2013.12.004 -
Journal of General Internal Medicine Oct 2015Health literacy (HL) and numeracy are measured by one of two methods: performance on objective tests or self-report of one's skills. Whether results from these methods... (Comparative Study)
Comparative Study Review
BACKGROUND
Health literacy (HL) and numeracy are measured by one of two methods: performance on objective tests or self-report of one's skills. Whether results from these methods differ in their relationship to health outcomes or use of health services is unknown.
METHODS
We performed a systematic review to identify and evaluate articles that measured both performance-based and self-reported HL or numeracy and examined their relationship to health outcomes or health service use. To identify studies, we started with an AHRQ-funded systematic review of HL and health outcomes. We then looked for newer studies by searching MEDLINE from 1 February 2010 to 9 December 2014. We included English language studies meeting pre-specified criteria. Two reviewers independently assessed abstracts and studies for inclusion and graded study quality. One reviewer abstracted information from included studies while a second checked content for accuracy.
RESULTS
We identified four "fair" quality studies that met inclusion criteria for our review. Two studies measuring HL found no differences between performance-based and self-reported HL for association with self-reported outcomes (including diabetes, stroke, hypertension) or a physician-completed rheumatoid arthritis disease activity score. However, HL measures were differentially related to a patient-completed health assessment questionnaire and to a patient's ability to interpret their prescription medication name and dose from a medication bottle. Only one study measured numeracy and found no difference between performance-based and self-reported measures of numeracy and colorectal cancer (CRC) screening utilization. However, in a moderator analysis from the same study, performance-based and self-reported numeracy were differentially related to CRC screening utilization when stratified by certain patient-provider communication behaviors (e.g., the chance to always ask questions and get the support that is needed).
DISCUSSION
Most studies found no difference in the relationship between results of performance-based and self-reported measures and outcomes. However, we identified few studies using multiple instruments and/or objective outcomes.
Topics: Cross-Sectional Studies; Health Knowledge, Attitudes, Practice; Health Literacy; Humans; Self Report
PubMed: 25917656
DOI: 10.1007/s11606-015-3288-4 -
International Maritime Health 2020Telemedicine is an effective technology for evaluating, diagnosing, treating, and providing health care services for remote populations, including seafarers, in case of...
BACKGROUND
Telemedicine is an effective technology for evaluating, diagnosing, treating, and providing health care services for remote populations, including seafarers, in case of diseases or accidents on board. Delivery of telemedicine in a maritime environment is not an easy task and, in general, differs from what can be done onshore. The aim of this review is to provides an overview of Telemedical Maritime Assistance Services (TMAS) in Europe by describing the previous and current status in terms of communication technologies as well as the nature of services rendered at sea. Secondly, to discuss the areas needing improvement and future directions to improve the quality of offshore telemedicine services.
MATERIALS AND METHODS
Different databases, including PubMed (Medline), Google Scholar, Scopus, and journal of International Maritime Health, were searched between August 1 and September 15, 2019. Articles only published from 1969 to 2019 were considered. Relevant articles were selected by reviewing keywords, titles, and abstracts initially based on our inclusion and exclusion criteria. We critically reviewed the full-text articles included in this review. Information on the means of communication, telemedicine services, years of publication, and the name of the first author was extracted from selected studies. The quality of the selected studies was assessed using the criteria of the Newcastle-Ottawa scale.
RESULTS
Initially, 135 articles were identified through searching various databases by using keywords, abstracts, and titles. After removing the duplicates, 121 articles remained. Then we performed an independent article assessment and selection based on the selection criteria, which removed an additional 61 studies, leaving 60 papers. Finally, 27 full-text papers left, and we critically reviewed it. In 27 accepted articles, email and telephone were used most often and accounted for 30% (17/57) and 28% (16/57) of all communication links, respectively. Teleconsultation was the most used telemedicine service on board and represented 58.6% (17/29) of accepted papers.
CONCLUSIONS
Email and telephone were the principal means of TMAS doctors to provide medical advice as well as assistance for patients at sea. Despite the potential offered by technological progress, there are still many limitations to the provision of adequate medical care at sea. The modernisation of telemedicine services will help decrease the gap in healthcare delivery at sea.
Topics: Electronic Mail; Europe; Humans; Naval Medicine; Ships; Telemedicine; Telephone
PubMed: 32604452
DOI: 10.5603/IMH.2020.0018 -
Archives of Physiotherapy 2018There is a need for psychosocial interventions to address the escalating mental health burden in Sub-Saharan Africa (SSA). Physiotherapists could have a central role in... (Review)
Review
BACKGROUND
There is a need for psychosocial interventions to address the escalating mental health burden in Sub-Saharan Africa (SSA). Physiotherapists could have a central role in reducing the burden and facilitating recovery within the multidisciplinary care of people with mental health problems. The aim of this systematic review was to explore the role of physiotherapists within the current mental health policies of SSA countries and to explore the current research evidence for physiotherapy to improve functional outcomes in people with mental health problems in SSA.
METHODS
The Mental Health Atlas and MiNDbank of the World Health Organization were screened for the role of physiotherapy in mental health plans. Next, we systematically searched PubMed from inception until August 1st, 2017 for relevant studies on physiotherapy interventions in people with mental health problems in SSA. The following search strategy was used: "physiotherapy" OR "physical therapy" OR "rehabilitation" AND "mental" OR "depression" OR "psychosis" OR "schizophrenia" OR "bipolar" AND the name of the country.
RESULTS
The current systematic review shows that in 22 screened plans only 2 made reference to the importance of considering physiotherapy within the multidisciplinary treatment. The current evidence (N studies = 3; n participants = 94) shows that aerobic exercise might reduce depression and improve psychological quality of life, self-esteem, body image and emotional stress in people with HIV having mental health problems. In people with depression moderate to high but not light intensity aerobic exercise results in significantly less depressive symptoms ( = 1, = 30). Finally, there is evidence for reduction in post-traumatic stress symptoms (avoidance and arousal), anxiety and depression following body awareness related exercises (N = 1, = 26).
CONCLUSIONS
Our review demonstrated that physiotherapy is still largely neglected in the mental health care systems of SSA. This is probably due to poor knowledge of the benefits of physiotherapy within mental health care by policymakers, training institutes, and other mental health care professionals in SSA. Based on the current scientific evidence, this paper recommends the adoption of physiotherapy within mental health care services and investment in research and in training of professionals in SSA.
PubMed: 29423279
DOI: 10.1186/s40945-018-0043-2 -
Bone Reports Dec 2021Denosumab is a monoclonal antibody that has been approved to treat osteoporosis, skeletal metastasis, and giant cell tumor of bone in skeletally mature patients. Due to... (Review)
Review
Denosumab is a monoclonal antibody that has been approved to treat osteoporosis, skeletal metastasis, and giant cell tumor of bone in skeletally mature patients. Due to its potential adverse effects on normal bone growth, its use has not yet been approved in skeletally immature patients; however, the use of this agent in such patients with overt or dysregulated bone resorptive conditions has been explored in recent years. While most studies have proven the effectiveness of denosumab in controlling the progression of various disorders in skeletally immature patients, they have also revealed that refractory hypercalcemia often follows the discontinuation of denosumab treatment, raising a concern over the use of this agent in these patients. Thus, this study was designed to better understand the pathology of this condition through a systematic review of the published literature. Our analysis suggests that this condition has a potential male predisposition, that there is a correlation between the duration of denosumab treatment and patient age, and that this condition often occurs within 3 months after the last administration of denosumab in skeletally immature patients but is significantly less likely in adults. These results may further underscore that high bone formation and bone turnover rates are critically associated with hypercalcemia after the discontinuation of denosumab. In contrast, given that not all skeletally immature patients develop hypercalcemia, it is probable that other unidentified factors are involved in the pathology of this condition.
PubMed: 34825020
DOI: 10.1016/j.bonr.2021.101148 -
Journal of Managed Care & Specialty... Dec 2017Biosimilars undergo an abbreviated licensure pathway called 351(k), which was created by the Biologics Price Competition and Innovation Act of 2009. This approval... (Review)
Review
BACKGROUND
Biosimilars undergo an abbreviated licensure pathway called 351(k), which was created by the Biologics Price Competition and Innovation Act of 2009. This approval process is different from the 351(a) pathway for original biologic approval and, as of August 2017, has been used to approve 5 biosimilars in the United States.
OBJECTIVE
To identify the types and quantities of evidence required by the FDA for biosimilar approval and the corresponding evidence manufacturers have provided in their 351(k) biosimilar approval applications.
METHODS
To collect data for this review, we searched through drug-specific FDA approval documents and approval-related FDA webcasts for approval indications and dates; reference product names; formulations; postmarketing requirements and commitments; evidence used for extrapolation claims; advisory committee votes; and evidence on similarity in analytical and functional characteristics, pharmacokinetics, pharmacodynamics, efficacy, safety, and immunogenicity.
RESULTS
All biosimilars approved in the United States provided a large evidence base to demonstrate similarity in analytical and functional characteristics-3 to 5 clinical studies showed similarity in pharmacokinetics and pharmacodynamics, and 1 to 2 clinical studies demonstrated efficacy. Safety and immunogenicity were evaluated across all clinical studies. All biosimilars were compared with either the U.S.-licensed reference product or the reference product licensed by the European Union. Extrapolation allowed biosimilars to be approved for indications in which clinical studies were not conducted. The few indications for which biosimilars did not share approval with the reference product were due to market exclusivity protection. None of the 5 biosimilars have been approved as interchangeable in the United States.
CONCLUSIONS
The approval process for the first 5 biosimilars on the market in the United States provides a baseline understanding of what type and degree of evidence is required for biosimilar approval.
DISCLOSURES
There was no external funding for this study. Hung reports employment as a pharmacist for CVS Health, an AHRQ F32 grant, and meeting/accommodation/travel support from AACP, DIA, and ISPOR, all outside the submitted work. Vu and Mostovoy have nothing to disclose. Study concept and design were contributed by Hung and Mostovoy, along with Vu. Hung and Vu collected the data, and data interpretation was performed primarily by Hung, along with Mostovoy. The manuscript was written by Hung and Vu and revised by all the authors. Some of the study results were previously presented as a poster at the ISPOR 22nd Annual International Meeting; May 20-24, 2017; in Boston, Massachusetts.
Topics: Biosimilar Pharmaceuticals; Clinical Trials as Topic; Drug Approval; Drug Industry; Humans; United States; United States Food and Drug Administration
PubMed: 29172975
DOI: 10.18553/jmcp.2017.23.12.1234 -
The Cochrane Database of Systematic... Jul 2016Sudden Unexpected Death in Epilepsy (SUDEP) is defined as sudden, unexpected, witnessed or unwitnessed, non-traumatic or non-drowning death of people with epilepsy, with... (Review)
Review
BACKGROUND
Sudden Unexpected Death in Epilepsy (SUDEP) is defined as sudden, unexpected, witnessed or unwitnessed, non-traumatic or non-drowning death of people with epilepsy, with or without evidence of a seizure, excluding documented status epilepticus and in whom postmortem examination does not reveal a structural or toxicological cause for death. SUDEP has a reported incidence of 1 to 2 per 1000 patient years and represents the most common epilepsy-related cause of death. The presence and frequency of generalised tonic-clonic seizures (GTCS), male sex, early age of seizure onset, duration of epilepsy, and polytherapy are all predictors of risk of SUDEP. The exact pathophysiology of SUDEP is currently unknown, although GTCS-induced cardiac, respiratory, and brainstem dysfunction appears likely. Appropriately chosen antiepileptic drug treatment can render around 70% of patients free of all seizures. However, around one-third will remain drug refractory despite polytherapy. Continuing seizures place patients at risk of SUDEP, depression, and reduced quality of life. Preventative strategies for SUDEP include reducing the occurrence of GTCS by timely referral for presurgical evaluation in people with lesional epilepsy and advice on lifestyle measures; detecting cardiorespiratory distress through clinical observation and seizure, respiratory, and heart rate monitoring devices; preventing airway obstruction through nocturnal supervision and safety pillows; reducing central hypoventilation through physical stimulation and enhancing serotonergic mechanisms of respiratory regulation using selective serotonin reuptake inhibitors (SSRIs); reducing adenosine and endogenous opioid-induced brain and brainstem depression.
OBJECTIVES
To assess the effectiveness of interventions in preventing SUDEP in people with epilepsy by synthesising evidence from randomised controlled trials of interventions and cohort and case-control non-randomised studies.
SEARCH METHODS
We searched the following databases: Cochrane Epilepsy Group Specialized Register; Cochrane Central Register of Controlled Trials (CENTRAL, Issue 11, 2015) via the Cochrane Register of Studies Online (CRSO); MEDLINE (Ovid, 1946 onwards); SCOPUS (1823 onwards); PsycINFO (EBSCOhost, 1887 onwards); CINAHL Plus (EBSCOhost, 1937 onwards); ClinicalTrials.gov; and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). We used no language restrictions. The date of the last search was 12 November 2015. We checked the reference lists of retrieved studies for additional reports of relevant studies and contacted lead study authors for any relevant unpublished material. We identified duplicate studies by screening reports according to title, authors' names, location, and medical institute, omitting any duplicated studies. We identified any grey literature studies published in the last five years by searching: Zetoc database; ISI Proceedings; International Bureau for Epilepsy (IBE) congress proceedings database; International League Against Epilepsy (ILAE) congress proceedings database; abstract books of symposia and congresses, meeting abstracts, and research reports.
SELECTION CRITERIA
We aimed to include randomised controlled trials (RCTs), quasi-RCTs, and cluster-RCTs; prospective non-randomised cohort controlled and uncontrolled studies; and case-control studies of adults and children with epilepsy receiving an intervention for the prevention of SUDEP. Types of interventions included: early versus delayed pre-surgical evaluation for lesional epilepsy; educational programmes; seizure-monitoring devices; safety pillows; nocturnal supervision; selective serotonin reuptake inhibitors (SSRIs); opiate antagonists; and adenosine antagonists.
DATA COLLECTION AND ANALYSIS
We aimed to collect data on study design factors and participant demographics for included studies. The primary outcome of interest was the number of deaths from SUDEP. Secondary outcomes included: number of other deaths (unrelated to SUDEP); change in mean depression and anxiety scores (as defined within the study); clinically important change in quality of life, that is any change in quality of life score (average and endpoint) according to validated quality of life scales; and number of hospital attendances for seizures.
MAIN RESULTS
We identified 582 records from the databases and search strategies. We found 10 further records by searching other resources (handsearching). We removed 211 duplicate records and screened 381 records (title and abstract) for inclusion in the review. We excluded 364 records based on the title and abstract and assessed 17 full-text articles. We excluded 15 studies: eight studies did not assess interventions to prevent SUDEP; five studies measured sensitivity of devices to detect GTCS but did not directly measure SUDEP; and two studies assessed risk factors for SUDEP but not interventions for preventing SUDEP. One listed study is awaiting classification.We included one case-control study at serious risk of bias within a qualitative analysis in this review. This study of 154 cases of SUDEP and 616 controls ascertained a protective effect for the presence of nocturnal supervision (unadjusted odds ratio (OR) 0.34, 95% confidence interval (CI) 0.22 to 0.53) and when a supervising person shared the same bedroom or when special precautions, for example a listening device, were used (unadjusted OR 0.41, 95% CI 0.20 to 0.82). This effect was independent of seizure control. Non-SUDEP deaths; changes to anxiety, depression, and quality of life; and number of hospital attendances were not reported.
AUTHORS' CONCLUSIONS
We found very low-quality evidence of a preventative effect for nocturnal supervision against SUDEP. Further research is required to identify the effectiveness of other current interventions, for example seizure detection devices, safety pillows, SSRIs, early surgical evaluation, educational programmes, and opiate and adenosine antagonists in preventing SUDEP in people with epilepsy.
Topics: Adult; Case-Control Studies; Death, Sudden; Epilepsy; Epilepsy, Tonic-Clonic; Female; Humans; Male; Patient Safety; Sleep
PubMed: 27434597
DOI: 10.1002/14651858.CD011792.pub2