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Journal of Biomedical Informatics Jul 2023The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of... (Review)
Review
BACKGROUND
The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of diagnostic tools. Machine learning (ML) algorithms have the potential to improve the accuracy and speed of diagnosis by analyzing large amounts of genomic data and identifying complex multiallelic patterns that may be associated with specific diseases. In this systematic review, we aimed to identify the methodological trends and the ML application areas in rare genetic diseases.
METHODS
We performed a systematic review of the literature following the PRISMA guidelines to search studies that used ML approaches to enhance the diagnosis of rare genetic diseases. Studies that used DNA-based sequencing data and a variety of ML algorithms were included, summarized, and analyzed using bibliometric methods, visualization tools, and a feature co-occurrence analysis.
FINDINGS
Our search identified 22 studies that met the inclusion criteria. We found that exome sequencing was the most frequently used sequencing technology (59%), and rare neoplastic diseases were the most prevalent disease scenario (59%). In rare neoplasms, the most frequent applications of ML models were the differential diagnosis or stratification of patients (38.5%) and the identification of somatic mutations (30.8%). In other rare diseases, the most frequent goals were the prioritization of rare variants or genes (55.5%) and the identification of biallelic or digenic inheritance (33.3%). The most employed method was the random forest algorithm (54.5%). In addition, the features of the datasets needed for training these algorithms were distinctive depending on the goal pursued, including the mutational load in each gene for the differential diagnosis of patients, or the combination of genotype features and sequence-derived features (such as GC-content) for the identification of somatic mutations.
CONCLUSIONS
ML algorithms based on sequencing data are mainly used for the diagnosis of rare neoplastic diseases, with random forest being the most common approach. We identified key features in the datasets used for training these ML models according to the objective pursued. These features can support the development of future ML models in the diagnosis of rare genetic diseases.
Topics: Humans; Rare Diseases; Machine Learning; Algorithms; Genomics; Prognosis
PubMed: 37352901
DOI: 10.1016/j.jbi.2023.104429 -
European Archives of... Sep 2016The objective of the study was to determine the evidence of intratympanic steroids injections (ITSI) for efficacy in the management of the following inner ear diseases:... (Review)
Review
The objective of the study was to determine the evidence of intratympanic steroids injections (ITSI) for efficacy in the management of the following inner ear diseases: Ménière's disease, tinnitus, noise-induced hearing loss (NIHL) and idiopathic sudden sensorineural hearing loss (ISSNHL). The data sources were literature review from 1946 to December 2014, PubMed and Medline. A systematic review of the existing literature was performed. Databases were searched for all human prospective randomized clinical trials using ITSI in at least one treatment group. The authors identified 29 prospective randomized clinical trials investigating the benefits of an intratympanic delivery of steroids. Six articles on Ménière's disease were identified, of which one favored ITSI over placebo in vertigo control. Of the five randomized clinical trials on tinnitus therapy, one study found better tinnitus control with ITSI. The only available trial on NIHL showed significant hearing recovery with combination therapy (ITSI and oral steroids therapy). Seventeen studies were identified on ISSNHL, of which 10 investigated ITSI as a first-line therapy and 7 as a salvage therapy. Studies analysis found benefits in hearing recovery in both settings. Due to heterogeneity in treatment protocols and follow-up, a meta-analysis was not performed. Given the low adverse effects rates of ITSI therapy and good patient tolerability, local delivery should be considered as an interesting adjunct to the therapy of the ISSNHL and NIHL. Only one article over six where ITSI therapy offers potential benefits to patients with Ménière's disease in the control of tinnitus and vertigo was found. ITSI does not seem to be effective in the treatment of tinnitus.
Topics: Adrenal Cortex Hormones; Hearing Loss, Noise-Induced; Humans; Injection, Intratympanic; Meniere Disease; Randomized Controlled Trials as Topic; Tinnitus
PubMed: 26100030
DOI: 10.1007/s00405-015-3689-3 -
Cureus Oct 2022From conception to childbirth, there are many physical, hormonal, and psychological changes that a woman undergoes during pregnancy. During this time, balance is also... (Review)
Review
From conception to childbirth, there are many physical, hormonal, and psychological changes that a woman undergoes during pregnancy. During this time, balance is also affected, resulting in symptoms like vertigo and unsteadiness. These symptoms can lead to physical impairment and disability and can develop at any time. Vertigo in pregnancy has not been extensively written about. The subject of a narrative review is vertigo in pregnant patients. In pregnant women, hormonal alterations in the peripheral tissues and inner ear organs may contribute to vertigo. Meniere's disease, mild convulsive positional dizziness, and oculomotor migraines are all commonly exacerbated by pregnancy. Between the second and third trimesters of pregnancy, specific modifications to proprioception and hearing are also detected during physical examination. Patients who are pregnant typically experience these symptoms throughout this time. Some vertigo conditions can worsen during pregnancy, while others can appear at any time. Understanding audio-vestibular symptoms' pathological and clinical relationship during pregnancy requires more study.
PubMed: 36337796
DOI: 10.7759/cureus.29814 -
The Cochrane Database of Systematic... Apr 2023Vestibular migraine is a form of migraine where one of the main features is recurrent attacks of vertigo. These episodes are often associated with other features of... (Review)
Review
BACKGROUND
Vestibular migraine is a form of migraine where one of the main features is recurrent attacks of vertigo. These episodes are often associated with other features of migraine, including headache and sensitivity to light or sound. These unpredictable and severe attacks of vertigo can lead to a considerable reduction in quality of life. The condition is estimated to affect just under 1% of the population, although many people remain undiagnosed. A number of interventions have been used, or proposed to be used, as prophylaxis for this condition, to help reduce the frequency of the attacks. Many of these interventions include dietary, lifestyle or behavioural changes, rather than medication. OBJECTIVES: To assess the benefits and harms of non-pharmacological treatments used for prophylaxis of vestibular migraine.
SEARCH METHODS
The Cochrane ENT Information Specialist searched the Cochrane ENT Register; Central Register of Controlled Trials (CENTRAL); Ovid MEDLINE; Ovid Embase; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 23 September 2022.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) and quasi-RCTs in adults with definite or probable vestibular migraine comparing dietary modifications, sleep improvement techniques, vitamin and mineral supplements, herbal supplements, talking therapies, mind-body interventions or vestibular rehabilitation with either placebo or no treatment. We excluded studies with a cross-over design, unless data from the first phase of the study could be identified. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were: 1) improvement in vertigo (assessed as a dichotomous outcome - improved or not improved), 2) change in vertigo (assessed as a continuous outcome, with a score on a numerical scale) and 3) serious adverse events. Our secondary outcomes were: 4) disease-specific health-related quality of life, 5) improvement in headache, 6) improvement in other migrainous symptoms and 7) other adverse effects. We considered outcomes reported at three time points: < 3 months, 3 to < 6 months, > 6 to 12 months. We used GRADE to assess the certainty of evidence for each outcome. MAIN RESULTS: We included three studies in this review with a total of 319 participants. Each study addressed a different comparison and these are outlined below. We did not identify any evidence for the remaining comparisons of interest in this review. Dietary interventions (probiotics) versus placebo We identified one study with 218 participants (85% female). The use of a probiotic supplement was compared to a placebo and participants were followed up for two years. Some data were reported on the change in vertigo frequency and severity over the duration of the study. However, there were no data regarding improvement of vertigo or serious adverse events. Cognitive behavioural therapy (CBT) versus no intervention One study compared CBT to no treatment in 61 participants (72% female). Participants were followed up for eight weeks. Data were reported on the change in vertigo over the course of the study, but no information was reported on the proportion of people whose vertigo improved, or on the occurrence of serious adverse events. Vestibular rehabilitation versus no intervention The third study compared the use of vestibular rehabilitation to no treatment in a group of 40 participants (90% female) and participants were followed up for six months. Again, this study reported some data on change in the frequency of vertigo during the study, but no information on the proportion of participants who experienced an improvement in vertigo or the number who experienced serious adverse events. We are unable to draw meaningful conclusions from the numerical results of these studies, as the data for each comparison of interest come from single, small studies and the certainty of the evidence was low or very low. AUTHORS' CONCLUSIONS: There is a paucity of evidence for non-pharmacological interventions that may be used for prophylaxis of vestibular migraine. Only a limited number of interventions have been assessed by comparing them to no intervention or a placebo treatment, and the evidence from these studies is all of low or very low certainty. We are therefore unsure whether any of these interventions may be effective at reducing the symptoms of vestibular migraine and we are also unsure whether they have the potential to cause harm.
Topics: Adult; Female; Humans; Male; Cognitive Behavioral Therapy; Migraine Disorders; Headache; Vertigo
PubMed: 37042522
DOI: 10.1002/14651858.CD015321.pub2 -
International Journal of Audiology Sep 2019Determine whether a combination of electrocochleography determined summating/action potential (SP/AP) ratio and other audiological measurements has greater sensitivity... (Meta-Analysis)
Meta-Analysis
Determine whether a combination of electrocochleography determined summating/action potential (SP/AP) ratio and other audiological measurements has greater sensitivity and specificity than that achieved with electrocochleography SP/AP ratio alone in diagnosing definite Ménière's Disease. Systematic review and meta-analysis. Pubmed, Cochrane Library, and Web of Science were searched using search terms "electrocochleography", "ECochG, ,"ECoG", "Ménière's Disease", and "Idiopathic Endolymphatic Hydrops". Inclusion criteria were extratympanic electrocochleography methodology, English language publication between January 2002 and December 2017, and the 1995 American Academy of Otolaryngology and Head and Neck Surgery Ménière's disease diagnostic criteria. Five articles satisfied inclusion criteria and were sufficiently detailed for aggregate quantitative analysis of SP/AP ratio (315 subjects) and combination audiological measures (113 subjects). The diagnostic sensitivity and specificity of the SP/AP amplitude ratio was 47.6% and 83.8% and of combination diagnostic measures 63.5% and 89.3%, respectively. Point estimates of sensitivity ( = 0.248) and specificity ( = 0.969) and the summary Receiver Operator Characteristic Curve ( = 0.407) were not statistically significant. Statistically, combination diagnostic measures do not result in greater accuracy of definite Ménière's disease diagnosis compared to the SP/AP amplitude ratio alone. However, given the small sample size further studies are recommended to arrive at a definitive conclusion.
Topics: Audiometry, Evoked Response; Cross-Sectional Studies; Ear, Middle; Humans; Meniere Disease; Prospective Studies; ROC Curve; Retrospective Studies; Sensitivity and Specificity
PubMed: 31066337
DOI: 10.1080/14992027.2019.1606947 -
European Archives of... Sep 2023Meniere's disease (MD) is a complex disease that can severely affect the quality of life. In this systematic review and meta-analysis, we aimed to investigate the effect... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Meniere's disease (MD) is a complex disease that can severely affect the quality of life. In this systematic review and meta-analysis, we aimed to investigate the effect of vestibular rehabilitation (VR) versus control/other interventions on the quality of life in patients with MD.
METHODS
We searched six electronic databases (PubMed/MEDLINE, Web of Science, EMBASE, Scopus, ProQuest, CENTRAL) from inception to September 30, 2022 with no language restriction for publications comparing the effect of VR with control/ other interventions in patients with MD. The primary outcome was quality of life assessed by dizziness handicap inventory (DHI).
RESULTS
Overall, three studies with a total of 465 patients were included in the meta-analysis. All the included studies reported immediate-term DHI scores. A medium effect (standardized mean difference [SMD] = - 0.58, 95% confidence interval [CI] - 1.12; - 0.05) was observed favoring the use of VR to improve DHI scores in patients with MD in the immediate term. Moreover, there was severe heterogeneity in immediate DHI scores among the included studies (χ = 22.33, P = 0.00, I = 82.1%).
CONCLUSIONS
VR rehabilitation can improve the quality of life in patients with MD immediately after treatment. Since all the included studies had a high risk of bias and none had long-term follow-ups, further high-quality research is required to determine the short-, intermediate-, and long-term effects of VR compared to control/other interventions.
Topics: Humans; Meniere Disease; Quality of Life; Dizziness; Vertigo
PubMed: 37341761
DOI: 10.1007/s00405-023-08066-x -
World Journal of Otorhinolaryngology -... Oct 2021Meniere's disease (MD) is an idiopathic disorder of the inner ear, which manifests as cochleo-vestibular dysfunction. Hearing loss will progress to a profound levelin a... (Review)
Review
BACKGROUND
Meniere's disease (MD) is an idiopathic disorder of the inner ear, which manifests as cochleo-vestibular dysfunction. Hearing loss will progress to a profound levelin a subset of patients with MD, and vestibular interventions can independently cause loss of hearing. The aim of this study was to systematically review the published literature describing the safety and efficacy of CI in patients with MD.
MATERIALS AND METHODS
A systematic literature review was conducted in accordance PRISMA guidelines to identify articles that assessed at least one functional outcome in patients with MD who underwent CI. Demographic information, disease history, MD symptoms, outcomes measures, and complications related to CI were extracted from included studies.
RESULTS
In total, 17 studies were included, and 182 patients with MD underwent CI. The weighted-mean age was 61.9 years (range 27-85). Study objective and methodology varied, and there was significant heterogeneity in CI outcome measures reported. In total, 179 (98.3%) of 182 patients reported objective improvements in at least one hearing metric after CI. A total of 69 patients (37.9%) reported vertigo or severe dizziness prior to CI, compared to 22 patients (15.4%) postoperatively. Two studies reported significant reductions in postoperative Tinnitus Handicap Inventory score (THI). Quality of life assessments varied between studies. Complications rates were low with only nine patients (4.9%) reporting a serious CI-related complication.
CONCLUSIONS
This systematic review evaluated 17 studies describing the safety and efficacy of CI in patients with MD and encountered many challenges due to small sample sizes, and heterogeneity in study design and outcomes measured. Despite these limitations, this study of 182 patients is to the best of our knowledge the largest systematic review evaluating the safety and efficacy of CI in MD. The results of this study support the need for a standardized approach to evaluating outcomes of CI in patients with MD in future studies.
PubMed: 34632344
DOI: 10.1016/j.wjorl.2020.03.004 -
The Cochrane Database of Systematic... Feb 2023Ménière's disease is a condition that causes recurrent episodes of vertigo, associated with hearing loss and tinnitus. It is often treated with medication, but... (Review)
Review
BACKGROUND
Ménière's disease is a condition that causes recurrent episodes of vertigo, associated with hearing loss and tinnitus. It is often treated with medication, but different interventions are sometimes used. Positive pressure therapy is a treatment that creates small pressure pulses, generated by a pump that is attached to tubing placed in the ear canal. It is typically used for a few minutes, several times per day. The underlying cause of Ménière's disease is unknown, as is the way in which this treatment may work. The efficacy of this intervention at preventing vertigo attacks, and their associated symptoms, is currently unclear.
OBJECTIVES
To evaluate the benefits and harms of positive pressure therapy versus placebo or no treatment in people with Ménière's disease.
SEARCH METHODS
The Cochrane ENT Information Specialist searched the Cochrane ENT Register; CENTRAL; Ovid MEDLINE; Ovid Embase; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 14 September 2022.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) and quasi-RCTs in adults with a diagnosis of Ménière's disease comparing positive pressure therapy with either placebo or no treatment. We excluded studies with follow-up of less than three months. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were: 1) improvement in vertigo (assessed as a dichotomous outcome - improved or not improved), 2) change in vertigo (assessed as a continuous outcome, with a score on a numerical scale) and 3) serious adverse events. Our secondary outcomes were: 4) disease-specific health-related quality of life, 5) change in hearing, 6) change in tinnitus and 7) other adverse effects. We considered outcomes reported at three time points: 3 to < 6 months, 6 to ≤ 12 months and > 12 months. We used GRADE to assess the certainty of evidence for each outcome. MAIN RESULTS: We included three studies with a total of 238 participants, all of which compared positive pressure using the Meniett device to sham treatment. The duration of follow-up was a maximum of four months. Improvement in vertigo A single study assessed whether participants had an improvement in the frequency of their vertigo whilst using positive pressure therapy, therefore we are unable to draw meaningful conclusions from the results. Change in vertigo Only one study reported on the change in vertigo symptoms using a global score (at 3 to < 6 months), so we are again unable to draw meaningful conclusions from the numerical results. All three studies reported on the change in the frequency of vertigo. The summary effect showed that people receiving positive pressure therapy had, on average, 0.84 fewer days per month affected by vertigo (95% confidence interval from 2.12 days fewer to 0.45 days more; 3 studies; 202 participants). However, the evidence on the change in vertigo frequency was of very low certainty, therefore there is great uncertainty in this estimate. Serious adverse events None of the included studies provided information on the number of people who experienced serious adverse events. It is unclear whether this is because no adverse events occurred, or whether they were not assessed and reported. AUTHORS' CONCLUSIONS: The evidence for positive pressure therapy for Ménière's disease is very uncertain. There are few RCTs that compare this intervention to placebo or no treatment, and the evidence that is currently available from these studies is of low or very low certainty. This means that we have very low confidence that the effects reported are accurate estimates of the true effect of these interventions. Consensus on the appropriate outcomes to measure in studies of Ménière's disease is needed (i.e. a core outcome set) in order to guide future studies in this area and enable meta-analyses of the results. This must include appropriate consideration of the potential harms of treatment, as well as the benefits.
Topics: Adult; Humans; Meniere Disease; Otitis Media, Suppurative; Physical Therapy Modalities; Tinnitus; Vertigo
PubMed: 36815713
DOI: 10.1002/14651858.CD015248.pub2 -
The Cochrane Database of Systematic... Apr 2023Vestibular migraine is a form of migraine where one of the main features is recurrent attacks of vertigo. These episodes are often associated with other features of... (Review)
Review
BACKGROUND
Vestibular migraine is a form of migraine where one of the main features is recurrent attacks of vertigo. These episodes are often associated with other features of migraine, including headache and sensitivity to light or sound. The unpredictable and severe attacks of vertigo can lead to a considerable reduction in quality of life. The condition is estimated to affect just under 1% of the population, although many people remain undiagnosed. A number of pharmacological interventions have been used, or proposed to be used, at the time of a vestibular migraine attack to help reduce the severity or resolve the symptoms. These are predominantly based on treatments that are in use for headache migraine, with the belief that the underlying pathophysiology of these conditions is similar. OBJECTIVES: To assess the benefits and harms of pharmacological interventions used to relieve acute attacks of vestibular migraine.
SEARCH METHODS
The Cochrane ENT Information Specialist searched the Cochrane ENT Register; Central Register of Controlled Trials (CENTRAL); Ovid MEDLINE; Ovid Embase; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 23 September 2022.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) and quasi-RCTs in adults with definite or probable vestibular migraine comparing triptans, ergot alkaloids, dopamine antagonists, antihistamines, 5-HT3 receptor antagonists, gepants (CGRP receptor antagonists), magnesium, paracetamol or non-steroidal anti-inflammatory drugs (NSAIDs) with either placebo or no treatment. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were: 1) improvement in vertigo (assessed as a dichotomous outcome - improved or not improved), 2) change in vertigo (assessed as a continuous outcome, with a score on a numerical scale) and 3) serious adverse events. Our secondary outcomes were: 4) disease-specific health-related quality of life, 5) improvement in headache, 6) improvement in other migrainous symptoms and 7) other adverse effects. We considered outcomes reported at three time points: < 2 hours, 2 to 12 hours, > 12 to 72 hours. We used GRADE to assess the certainty of evidence for each outcome. MAIN RESULTS: We included two RCTs with a total of 133 participants, both of which compared the use of triptans to placebo for an acute attack of vestibular migraine. One study was a parallel-group RCT (of 114 participants, 75% female). This compared the use of 10 mg rizatriptan to placebo. The second study was a smaller, cross-over RCT (of 19 participants, 70% female). This compared the use of 2.5 mg zolmitriptan to placebo. Triptans may result in little or no difference in the proportion of people whose vertigo improves at up to two hours after taking the medication. However, the evidence was very uncertain (risk ratio 0.84, 95% confidence interval 0.66 to 1.07; 2 studies; based on 262 attacks of vestibular migraine treated in 124 participants; very low-certainty evidence). We did not identify any evidence on the change in vertigo using a continuous scale. Only one of the studies assessed serious adverse events. No events were noted in either group, but as the sample size was small we cannot be sure if there are risks associated with taking triptans for this condition (0/75 receiving triptans, 0/39 receiving placebo; 1 study; 114 participants; very low-certainty evidence). AUTHORS' CONCLUSIONS: The evidence for interventions used to treat acute attacks of vestibular migraine is very sparse. We identified only two studies, both of which assessed the use of triptans. We rated all the evidence as very low-certainty, meaning that we have little confidence in the effect estimates and cannot be sure if triptans have any effect on the symptoms of vestibular migraine. Although we identified sparse information on potential harms of treatment in this review, the use of triptans for other conditions (such as headache migraine) is known to be associated with some adverse effects. We did not identify any placebo-controlled randomised trials for other interventions that may be used for this condition. Further research is needed to identify whether any interventions help to improve the symptoms of vestibular migraine attacks and to determine if there are side effects associated with their use.
Topics: Adult; Female; Humans; Male; Migraine Disorders; Anti-Inflammatory Agents, Non-Steroidal; Vertigo; Headache; Tryptamines
PubMed: 37042545
DOI: 10.1002/14651858.CD015322.pub2 -
Brazilian Journal of Otorhinolaryngology 2023To analyze, by means of a systematic review and meta-analysis, the proportion of patients with Meniere's disease who have altered caloric test and vHIT, as well as to... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To analyze, by means of a systematic review and meta-analysis, the proportion of patients with Meniere's disease who have altered caloric test and vHIT, as well as to determine the prevalence of altered caloric test and normal vHIT dissociation in the diagnosis of Meniere's disease.
METHODS
The literature search had no restriction regarding the period of publication on the following indexed data platforms: PubMed, PubMed PMC, BVS-Bireme, Web of Science, Embase and Cochrane Library. Articles that evaluated patients with Meniere's disease who underwent caloric test and vHIT were included. Two researchers independently conducted the analysis of the articles, promoting the selection and capture of data, following the recommendations of the PRISMA method, and complying with the criteria for articles inclusion and exclusion defined in the research protocol. In case of disagreement during the selection process, a third researcher was included for analysis.
RESULTS
From a total of 427 initial studies, the researchers selected 12 articles, published between 2014 and 2021, with a total of 708 patients evaluated, with a mean age of 52.72 years old. The prevalence of patients with Meniere's disease with altered caloric reflex test was 64% (95% CI 57%‒71%), while the prevalence of altered vHIT was only 28% (95% CI 16%-40%). The prevalence of the altered caloric test + normal vHIT dissociation was 47% (95% CI 37%-57%).
CONCLUSION
The video head impulse test and the caloric test are valuable tools for vestibular assessment. The dissociation of findings between these two tests in patients with Meniere's disease was more prevalent in this meta-analysis and may be a result of the tonotopy of specialized hair cells in the ampullary crest. The prevalence of altered caloric test was 64% and anormal vHIT was 28%. The dissociation caloric asymmetry and normal vHIT was observed in 47% of the patients.
Topics: Humans; Middle Aged; Meniere Disease; Head Impulse Test; Caloric Tests; Reflex, Vestibulo-Ocular; Hair Cells, Auditory
PubMed: 37354884
DOI: 10.1016/j.bjorl.2023.101279