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Endocrine Aug 2023To summarize the more robust evidence about the performance of tools useful for diagnosis of medullary thyroid carcinoma (MTC) such as calcitonin (Ctn) and other... (Review)
Review
PURPOSE
To summarize the more robust evidence about the performance of tools useful for diagnosis of medullary thyroid carcinoma (MTC) such as calcitonin (Ctn) and other circulating markers, ultrasound (US), fine-needle aspiration (FNA), and other imaging procedures.
METHODS
This systematic review of systematic reviews was carried out according to a predefined protocol. A search string was created. An electronical comprehensive search of literature was performed on December 2022. Quality assessment of eligible systematic reviews was performed and main findings were described.
RESULTS
Twenty-three systematic reviews were included and several findings were achieved. Ctn is the most reliable diagnostic marker of MTC with no evidence of improvement with stimulation test. CEA doubling time is more reliable than Ctn in identifying MTC with poorer prognosis. US sensitivity is suboptimal in MTC and only just over half of cases are at high risk according to Thyroid Imaging And Reporting Data Systems. Cytology can correctly detect MTC in just over half of cases and measuring Ctn in washout fluid from FNA is necessary. PET/CT is useful for detecting recurrent MTC.
CONCLUSIONS
Future guidelines of both thyroid nodule management and MTC diagnosis should consider these evidence-based data.
Topics: Thyroid Neoplasms; Thyroid Nodule; Positron Emission Tomography Computed Tomography; Diagnostic Tests, Routine; Calcitonin; Systematic Reviews as Topic; Biopsy, Fine-Needle
PubMed: 36877452
DOI: 10.1007/s12020-023-03326-6 -
Journal of Autism and Developmental... Aug 2023The suggested overlap between autism spectrum disorder (ASD) and gender dysphoria/incongruence (GD/GI) has been much disputed. This review showed a relationship between... (Meta-Analysis)
Meta-Analysis
The suggested overlap between autism spectrum disorder (ASD) and gender dysphoria/incongruence (GD/GI) has been much disputed. This review showed a relationship between ASD traits and GD feelings in the general population and a high prevalence of GD/GI in ASD. Our meta-analyses revealed that the pooled estimate of the prevalence of ASD diagnoses in GD/GI people was 11% (p < .001) and the overall effect size of the difference in ASD traits between GD/GI and control people was significant (g = 0.67, p < .001). Heterogeneity was high in both meta-analyses. We demonstrated that the chances that there is not a link between ASD and GD/GI are negligible, yet the size of it needs further investigation.
Topics: Humans; Gender Dysphoria; Autism Spectrum Disorder; Prevalence
PubMed: 35596023
DOI: 10.1007/s10803-022-05517-y -
Journal of Neurology, Neurosurgery, and... Oct 2023We aimed to create a multidisciplinary consensus clinical guideline for best practice in the diagnosis, investigation and management of spontaneous intracranial...
BACKGROUND
We aimed to create a multidisciplinary consensus clinical guideline for best practice in the diagnosis, investigation and management of spontaneous intracranial hypotension (SIH) due to cerebrospinal fluid leak based on current evidence and consensus from a multidisciplinary specialist interest group (SIG).
METHODS
A 29-member SIG was established, with members from neurology, neuroradiology, anaesthetics, neurosurgery and patient representatives. The scope and purpose of the guideline were agreed by the SIG by consensus. The SIG then developed guideline statements for a series of question topics using a modified Delphi process. This process was supported by a systematic literature review, surveys of patients and healthcare professionals and review by several international experts on SIH.
RESULTS
SIH and its differential diagnoses should be considered in any patient presenting with orthostatic headache. First-line imaging should be MRI of the brain with contrast and the whole spine. First-line treatment is non-targeted epidural blood patch (EBP), which should be performed as early as possible. We provide criteria for performing myelography depending on the spine MRI result and response to EBP, and we outline principles of treatments. Recommendations for conservative management, symptomatic treatment of headache and management of complications of SIH are also provided.
CONCLUSIONS
This multidisciplinary consensus clinical guideline has the potential to increase awareness of SIH among healthcare professionals, produce greater consistency in care, improve diagnostic accuracy, promote effective investigations and treatments and reduce disability attributable to SIH.
Topics: Humans; Intracranial Hypotension; Cerebrospinal Fluid Leak; Magnetic Resonance Imaging; Headache; Diagnosis, Differential
PubMed: 37147116
DOI: 10.1136/jnnp-2023-331166 -
Neurology and Therapy Aug 2023Alzheimer's disease (AD) is a disease continuum from pathophysiologic, biomarker and clinical perspectives. With the advent of advanced technologies, diagnosing and...
INTRODUCTION
Alzheimer's disease (AD) is a disease continuum from pathophysiologic, biomarker and clinical perspectives. With the advent of advanced technologies, diagnosing and managing patients is evolving.
METHODS
A systematic literature review (SLR) of practice guidelines for mild cognitive impairment (MCI) and AD dementia was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). This systematic literature review (SLR) aimed to summarize current clinical practice guidelines for screening, testing, diagnosis, treatment and monitoring in the AD continuum. The results of this SLR were used to propose a way forward for practice guidelines given the possible introduction of biomarker-guided technology using blood- or plasma-based assays and disease-modifying treatments (DMTs) targeted for early disease.
RESULTS
53 clinical practice guidelines were identified, 15 of which were published since 2018. Screening for asymptomatic populations was not recommended. Biomarker testing was not included in routine diagnostic practice. There was no consensus on which neurocognitive tests to use to diagnose and monitor MCI or AD dementia. Pharmacologic therapies were not recommended for MCI, while cholinesterase inhibitors and memantine were recommended for AD treatment.
DISCUSSION
The pre-2018 and post-2018 practice guidelines share similar recommendations for screening, diagnosis and treatment. However, once DMTs are approved, clinicians will require guidance on the appropriate use of DMTs in a clinical setting. This guidance should include strategies for identifying eligible patients and evaluating the DMT benefit-to-risk profile to facilitate shared decision-making among physicians, patients and care partners.
CONCLUSION
Regular evidence-based updates of existing guidelines for the AD continuum are required over the coming decades to integrate rapidly evolving technologic and medical scientific advances and bring emerging approaches for management of early disease into clinical practice. This will pave the way toward biomarker-guided identification and targeted treatment and the realization of precision medicine for AD.
PubMed: 37261607
DOI: 10.1007/s40120-023-00504-6 -
Genes Jun 2023In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted... (Review)
Review
BACKGROUND
In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries. However, prognosis of those patients cannot be inferred from clinical trials conducted in presymptomatic individuals, as in some cases disease presents very early.
METHODS
we conducted a systematic review of articles published up to January 2023.
RESULTS
Among 35 patients with three copies treated before 42 days of age and followed-up for at least 18 months, all but one achieved autonomous ambulation. Of 41 patients with two copies, who were non-symptomatic at treatment initiation, all achieved a sitting position independently and 31 were able to walk. Of 16 patients with two copies followed-up for at least 18 months who presented with symptoms at treatment onset, 3 achieved the walking milestone and all but one were able to sit without support.
CONCLUSIONS
evaluation of data from 18 publications indicates that the results of early treatment depend on the number of copies and the initial neurological status of the patient.
Topics: Infant, Newborn; Humans; Neonatal Screening; Muscular Atrophy, Spinal; Prognosis; Time
PubMed: 37510282
DOI: 10.3390/genes14071377 -
World Journal of Emergency Surgery :... Dec 2023To assess the efficacy of artificial intelligence (AI) models in diagnosing and prognosticating acute appendicitis (AA) in adult patients compared to traditional... (Review)
Review
BACKGROUND
To assess the efficacy of artificial intelligence (AI) models in diagnosing and prognosticating acute appendicitis (AA) in adult patients compared to traditional methods. AA is a common cause of emergency department visits and abdominal surgeries. It is typically diagnosed through clinical assessments, laboratory tests, and imaging studies. However, traditional diagnostic methods can be time-consuming and inaccurate. Machine learning models have shown promise in improving diagnostic accuracy and predicting outcomes.
MAIN BODY
A systematic review following the PRISMA guidelines was conducted, searching PubMed, Embase, Scopus, and Web of Science databases. Studies were evaluated for risk of bias using the Prediction Model Risk of Bias Assessment Tool. Data points extracted included model type, input features, validation strategies, and key performance metrics.
RESULTS
In total, 29 studies were analyzed, out of which 21 focused on diagnosis, seven on prognosis, and one on both. Artificial neural networks (ANNs) were the most commonly employed algorithm for diagnosis. Both ANN and logistic regression were also widely used for categorizing types of AA. ANNs showed high performance in most cases, with accuracy rates often exceeding 80% and AUC values peaking at 0.985. The models also demonstrated promising results in predicting postoperative outcomes such as sepsis risk and ICU admission. Risk of bias was identified in a majority of studies, with selection bias and lack of internal validation being the most common issues.
CONCLUSION
AI algorithms demonstrate significant promise in diagnosing and prognosticating AA, often surpassing traditional methods and clinical scores such as the Alvarado scoring system in terms of speed and accuracy.
Topics: Adult; Humans; Artificial Intelligence; Appendicitis; Prognosis; Algorithms; Machine Learning; Acute Disease
PubMed: 38114983
DOI: 10.1186/s13017-023-00527-2 -
BMC Infectious Diseases Oct 2023Approximately 10% of patients experience prolonged symptoms after Lyme disease. PTLDS (post treatment Lyme disease syndrome) is a controversial topic. It has been...
BACKGROUND
Approximately 10% of patients experience prolonged symptoms after Lyme disease. PTLDS (post treatment Lyme disease syndrome) is a controversial topic. It has been described as a source of overdiagnosis and off-label treatment. This review aims to describe the diagnostic errors and adverse events associated with the diagnosis and treatment of PTLDS.
METHODS
systematic review of the literature in the Medline and Cochrane Library databases, according to PRISMA criteria, including randomized clinical trials (RCT), observational studies, and case reports addressing diagnostic errors and adverse events published between January 2010 and November 2020 in English or French. Selection used a quadruple reading process on the basis of the titles and abstracts of the different articles, followed by a full reading.
RESULTS
17 studies were included: 1 RCT, 6 observational studies and 10 case reports. In the 6 observational studies, overdiagnosis rates were very high, ranging from 80 to 100%. The new diagnoses were often psychiatric, rheumatological and neurological. Disorders with somatic symptoms were often cited. Diagnostic delays were identified for cancers and frontoparietal dementia. In the RCT and observational studies, prolonged anti-infective treatments were also responsible for adverse events, with emergency room visits and/or hospitalization. The most common adverse events were diarrhea, sometimes with Clostridium difficile colitis, electrolyte abnormalities, sepsis, bacterial and fungal infections, and anaphylactic reactions.
CONCLUSION
This review highlights the risks of prolonged anti-infective treatments that have not been proven to be beneficial in PTLDS. It emphasizes the ethical imperative of the "primum non nocere" principle, which underscores the importance of not causing harm to patients. Physicians should exercise caution in diagnosing PTLDS and consider the potential risks associated with off-label treatments.
Topics: Humans; Enterocolitis, Pseudomembranous; Lyme Disease; Anti-Bacterial Agents; Sepsis
PubMed: 37784031
DOI: 10.1186/s12879-023-08618-w -
Journal of Affective Disorders Sep 2023Obsessive-compulsive disorder (OCD) is a condition with poor treatment outcomes. Improved understanding of the aetiology can inform prevention and treatment approaches;... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Obsessive-compulsive disorder (OCD) is a condition with poor treatment outcomes. Improved understanding of the aetiology can inform prevention and treatment approaches; hence several studies have assessed early maladaptive schemas (EMSs) in OCD. This systematic review and meta-analysis aimed to synthesise the evidence on relationships between the 18 EMSs and OCD.
METHODS
The study was conducted according to PRISMA guidelines and registered on PROSPERO (CRD42022329337). A systematic search of PubMed, PsycINFO, and CINAHL Complete was conducted on 4 June 2022. Studies in peer-reviewed journal articles were included if they assessed EMSs and OCD (diagnosis or symptom severity) in adults with a mean age of 18 years or older. Studies were excluded if they were not in English, did not include original quantitative data, or reported on case studies. Study details were tabulated and the meta-analysis findings were presented using forest plots. Methodological quality was assessed using the Appraisal tool for Cross-Sectional Studies (AXIS).
RESULTS
Based on 22 studies (pooled N = 3699), all 18 EMSs were positively correlated with OCD. The largest associations were with the dependence/incompetence (r = 0.40 95 % CI [0.32, 0.47]), vulnerability to harm or illness (r = 0.40 95 % CI [0.32, 0.48]), and negativity/pessimism schemas (r = 0.42 95 % CI [0.22, 0.58]).
LIMITATIONS
Several meta-analyses showed considerable heterogeneity and publication bias.
CONCLUSIONS
The findings suggest all EMSs, particularly those relating to disproportionate negative expectations and a perceived inability to cope, are implicated in OCD. Psychological prevention and treatment for OCD may benefit from targeting these schemas.
Topics: Adult; Humans; Adolescent; Cross-Sectional Studies; Obsessive-Compulsive Disorder; Treatment Outcome
PubMed: 37217101
DOI: 10.1016/j.jad.2023.05.053 -
European Journal of Medical Research Dec 2023Cervical cancer threatens women's health seriously. In recent years, the incidence of cervical cancer is on the rise, and the age of onset tends to be younger.... (Review)
Review
INTRODUCTION
Cervical cancer threatens women's health seriously. In recent years, the incidence of cervical cancer is on the rise, and the age of onset tends to be younger. Prevention, early diagnosis and specific treatment have become the main means to change the prognosis of cervical cancer patients. Metabolomics research can directly reflect the changes of biochemical processes and microenvironment in the body, which can provide a comprehensive understanding of the changes of metabolites in the process of disease occurrence and development, and provide new ways for the prevention and diagnosis of diseases.
OBJECTIVES
The aim of this study is to review the metabolic changes in cervical cancer and the application of metabolomics in the diagnosis and treatment.
METHODS
PubMed, Web of Science, Embase and Scopus electronic databases were systematically searched for relevant studies published up to 2022.
RESULTS
With the emergence of metabolomics, metabolic regulation and cancer research are further becoming a focus of attention. By directly reflecting the changes in the microenvironment of the body, metabolomics research can provide a comprehensive understanding of the patterns of metabolites in the occurrence and development of diseases, thus providing new ideas for disease prevention and diagnosis.
CONCLUSION
With the continuous, in-depth research on metabolomics research technology, it will bring more benefits in the screening, diagnosis and treatment of cervical cancer with its advantages of holistic and dynamic nature.
Topics: Humans; Female; Uterine Cervical Neoplasms; Metabolomics; Prognosis; Tumor Microenvironment
PubMed: 38093395
DOI: 10.1186/s40001-023-01490-z -
Journal of Biomedical Informatics Nov 2023Adequate methods to promptly translate digital health innovations for improved patient care are essential. Advances in Artificial Intelligence (AI) and Machine Learning... (Review)
Review
INTRODUCTION
Adequate methods to promptly translate digital health innovations for improved patient care are essential. Advances in Artificial Intelligence (AI) and Machine Learning (ML) have been sources of digital innovation and hold the promise to revolutionize the way we treat, manage and diagnose patients. Understanding the benefits but also the potential adverse effects of digital health innovations, particularly when these are made available or applied on healthier segments of the population is essential. One of such adverse effects is overdiagnosis.
OBJECTIVE
to comprehensively analyze quantification strategies and data-driven definitions for overdiagnosis reported in the literature.
METHODS
we conducted a scoping systematic review of manuscripts describing quantitative methods to estimate the proportion of overdiagnosed patients.
RESULTS
we identified 46 studies that met our inclusion criteria. They covered a variety of clinical conditions, primarily breast and prostate cancer. Methods to quantify overdiagnosis included both prospective and retrospective methods including randomized clinical trials, and simulations.
CONCLUSION
a variety of methods to quantify overdiagnosis have been published, producing widely diverging results. A standard method to quantify overdiagnosis is needed to allow its mitigation during the rapidly increasing development of new digital diagnostic tools.
Topics: Male; Humans; Retrospective Studies; Artificial Intelligence; Overdiagnosis; Prospective Studies; Prostatic Neoplasms
PubMed: 37769829
DOI: 10.1016/j.jbi.2023.104506