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Genetics in Medicine : Official Journal... Mar 2023This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert...
This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.
Topics: Adult; Humans; Clinical Relevance; Consensus; DiGeorge Syndrome; Genetic Counseling; Surveys and Questionnaires
PubMed: 36729052
DOI: 10.1016/j.gim.2022.11.012 -
International Braz J Urol : Official... 2016Traditionally, the treatment of overactive bladder syndrome has been based on the use of oral medications with the purpose of reestablishing the detrusor stability. The... (Review)
Review
Traditionally, the treatment of overactive bladder syndrome has been based on the use of oral medications with the purpose of reestablishing the detrusor stability. The recent better understanding of the urothelial physiology fostered conceptual changes, and the oral anticholinergics - pillars of the overactive bladder pharmacotherapy - started to be not only recognized for their properties of inhibiting the detrusor contractile activity, but also their action on the bladder afference, and therefore, on the reduction of the symptoms that constitute the syndrome. Beta-adrenergic agonists, which were recently added to the list of drugs for the treatment of overactive bladder, still wait for a definitive positioning - as either a second-line therapy or an adjuvant to oral anticholinergics. Conservative treatment failure, whether due to unsatisfactory results or the presence of adverse side effects, define it as refractory overactive bladder. In this context, the intravesical injection of botulinum toxin type A emerged as an effective option for the existing gap between the primary measures and more complex procedures such as bladder augmentation. Sacral neuromodulation, described three decades ago, had its indication reinforced in this overactive bladder era. Likewise, the electric stimulation of the tibial nerve is now a minimally invasive alternative to treat those with refractory overactive bladder. The results of the systematic literature review on the oral pharmacological treatment and the treatment of refractory overactive bladder gave rise to this second part of the review article Overactive Bladder - 18 years, prepared during the 1st Latin-American Consultation on Overactive Bladder.
Topics: Administration, Oral; Adrenergic beta-3 Receptor Agonists; Botulinum Toxins; Female; Humans; Male; Muscarinic Antagonists; Time Factors; Transcutaneous Electric Nerve Stimulation; Treatment Outcome; Urinary Bladder, Overactive
PubMed: 27176185
DOI: 10.1590/S1677-5538.IBJU.2015.0367 -
The Cochrane Database of Systematic... Oct 2006Kawasaki disease is the most common cause of acquired heart disease in children in developed countries. The coronary arteries supplying the heart can be damaged in... (Review)
Review
BACKGROUND
Kawasaki disease is the most common cause of acquired heart disease in children in developed countries. The coronary arteries supplying the heart can be damaged in Kawasaki disease. The principal advantage of timely diagnosis is the potential to prevent this complication with early treatment. Salicylate (acetyl salicylate acid (ASA), aspirin) and intravenous immunoglobulin (IVIG) are widely used for this purpose. Salicylate is largely otherwise avoided in children because of concerns about serious side effects, particularly the risk of Reyes syndrome.
OBJECTIVES
The objective of this review was to evaluate the effectiveness of salicylate in treating and preventing cardiac consequences of Kawasaki disease in children.
SEARCH STRATEGY
The Cochrane Peripheral Vascular Disease Group searched their trials register (last searched July 2006) and the Cochrane Central Register of Controlled Trials (CENTRAL) (last searched Issue 3, 2006). We searched MEDLINE (January 1966 to July 2006), EMBASE (January 1980 to July 2006), and CINAHL (1982 to July 2006), and reference list of articles. In addition we contacted experts in the field.
SELECTION CRITERIA
Randomised controlled trials (RCTs) of salicylate to treat Kawasaki disease in children were eligible for inclusion.
DATA COLLECTION AND ANALYSIS
Two authors independently assessed trial quality and extracted data. Study authors were contacted for additional information.
MAIN RESULTS
We found one trial involving 102 children which was described as randomised, but it was not possible to confirm the method of treatment allocation. A second comparative study, possibly with a randomised treatment allocation, was also identified. The one randomised trial reported no association between the addition of ASA to IVIG treatment on the rate of coronary artery abnormalities at follow up, but with wide confidence limits. The second, possibly randomised trial did demonstrate a reduction in duration of fever with high dose ASA compared to low dose ASA, but was insufficiently powered to establish the effect on coronary artery abnormalities at follow up.
AUTHORS' CONCLUSIONS
Until good quality RCTs are carried out, there is insufficient evidence to indicate whether children with Kawasaki disease should continue to receive salicylate as part of their treatment regimen.
Topics: Anti-Inflammatory Agents, Non-Steroidal; Child; Humans; Immunoglobulins, Intravenous; Mucocutaneous Lymph Node Syndrome; Salicylates
PubMed: 17054199
DOI: 10.1002/14651858.CD004175.pub2 -
Journal of Clinical Medicine Oct 2023Thoracic outlet syndrome (TOS) involves the compression of neurovascular structures in the thoracic outlet. TOS subtypes, including neurogenic (nTOS), venous (vTOS), and... (Review)
Review
Thoracic outlet syndrome (TOS) involves the compression of neurovascular structures in the thoracic outlet. TOS subtypes, including neurogenic (nTOS), venous (vTOS), and arterial (aTOS) are characterized by distinct clinical presentations and diagnostic considerations. This review explores the incidence, diagnostic challenges, and management of TOS with a focus on the innovative approach of Robotic First Rib Resection (R-FRR). Traditional management of TOS includes conservative measures and surgical interventions, with various open surgical approaches carrying risks of complications. R-FRR, a minimally invasive technique, offers advantages such as improved exposure, reduced injury risk to neurovascular structures, and shorter hospital stays. A comprehensive literature review was conducted to assess the outcomes of R-FRR for TOS. Data from 12 selected studies involving 397 patients with nTOS, vTOS, and aTOS were reviewed. The results indicate that R-FRR is associated with favorable intraoperative outcomes including minimal blood loss and low conversion rates to traditional approaches. Postoperatively, patients experienced decreased pain, improved function, and low complication rates. These findings support R-FRR as a safe and effective option for medically refractory TOS.
PubMed: 37892829
DOI: 10.3390/jcm12206689 -
Alimentary Pharmacology & Therapeutics Jan 2014Non-alcoholic fatty liver disease (NAFLD) is an umbrella term, which encompasses simple steatosis and non-alcoholic steatohepatitis (NASH). The entire spectrum of NAFLD... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Non-alcoholic fatty liver disease (NAFLD) is an umbrella term, which encompasses simple steatosis and non-alcoholic steatohepatitis (NASH). The entire spectrum of NAFLD has been associated with metabolic syndrome. NASH is associated with increased mortality compared with that of the general population. Many therapeutic options for NASH have been studied. However, there is very little evidence supporting the efficacy of most regimens for the treatment of NASH.
AIM
To provide a review focusing on the current therapeutic options available for patients with NASH as well as to briefly introduce possible future interventions.
METHODS
A MEDLINE, Pubmed and Cochrane Review database search using a combination of keywords, which included non-alcoholic fatty liver disease, non-alcoholic hepatic steatosis, NAFLD, NASH, treatment, therapeutics, vitamin E, orlistat and bariatric surgery. An overall summary of the articles was developed for each section of discussion in this review.
RESULTS
NASH associated with metabolic syndrome can progress advanced fibrosis and cirrhosis. Weight loss and lifestyle modification have been shown to improve NASH. Other medications used for weight loss and metabolic syndrome have been evaluated, such as orlistat, metformin and thiazolidinediones. Alternative regimens using ursodeoxycholic acid, statins and probiotics as well as bariatric surgery have been evaluated, but have not been recommended as first-line treatment for NASH. Vitamin E for NASH patients without diabetes seems to be promising. The lack of effective treatment for NASH suggests the heterogeneity of patients presenting with the NASH phenotype. The best treatment strategy for these patients may be to identify their pathogenic target and develop personalised treatment protocols.
CONCLUSIONS
Currently, there are few options available for the management of NASH. Future targeted treatment strategies based on the pathogenic pathways may be needed to develop effective treatment for patients with NASH.
Topics: Bariatric Surgery; Fatty Liver; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Lactones; Metabolic Syndrome; Metformin; Non-alcoholic Fatty Liver Disease; Orlistat; Precision Medicine; Thiazolidinediones; Ursodeoxycholic Acid; Vitamin E; Weight Loss
PubMed: 24206433
DOI: 10.1111/apt.12543 -
Microbiological Research Oct 2022Nowadays, Coronavirus disease (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is one of the most important health problems. The... (Meta-Analysis)
Meta-Analysis
Nowadays, Coronavirus disease (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is one of the most important health problems. The dynamics and nature of humoral responses are relevant to determine the efficacy of both, diagnostic tests and developed vaccines. Since the role of IgA in the COVID-19 disease is not fully understood, we have systematically reviewed the scientific literature on antibody IgA immunity to SARS-CoV-2 to determine if IgA could be useful as a diagnostic tool or as a biomarker of severity. We systematically reviewed 736 abstracts and identified 38 manuscripts relevant to include in the meta-analysis. The seroprevalence of IgA in SARS-CoV-2 PCR (+) confirmed patients was 86.47% (CI: 5.27-178.21). Furthermore, we found out that IgA can be produced on the first days of infection (10 days) and IgA is detected until 75 days after symptomatic onset in some studies. We also observe that IgA production is stronger in severe patients compared with mild or asymptomatic patients. Our research noticed a possible association between IgA and protection; however, the possible role of IgA as a biomarker of protection or severity remains unclear.
Topics: Antibodies, Viral; Biomarkers; COVID-19; COVID-19 Testing; Humans; Immunoglobulin A; SARS-CoV-2; Seroepidemiologic Studies
PubMed: 35816990
DOI: 10.1016/j.micres.2022.127105 -
Revista Espanola de Quimioterapia :... Oct 2020The appearance of new infectious diseases, such as COVID-19, poses a challenge in monitoring pregnancy and preventing obstetric and neonatal complications. A scoping...
OBJECTIVE
The appearance of new infectious diseases, such as COVID-19, poses a challenge in monitoring pregnancy and preventing obstetric and neonatal complications. A scoping review has the objective to review the information available in pregnant women infected with the MERS-CoV, SARSCoV, SARS-CoV-2 coronaviruses to assess the similarities in terms of and differences in the clinical characteristics of the mothers and neonatal outcomes.
METHODS
We carried out a bibliographic search (scoping review) according to the PRISMA guidelines between March and April 2020 in the MEDLINE, SciELO, and CUIDEN databases and the Elsevier COVID-19 Information Center.
RESULTS
We analyzed 20 articles with a total of 102 cases. 9 of MERS-CoV, 14 of SARS-CoV and 79 of SARS-CoV-2. Fever (75.5%) and pneumonia (73.5%) were the most frequent symptoms in infected pregnant women. The most frequent obstetric complications were the threat of premature delivery (23.5%) and caesarean section (74.5%). No vertical transmission was documented in any of the infants.
CONCLUSIONS
All three coronaviruses produce pneumonia with very similar symptoms, being milder in the case of SARSCoV2. Despite documented obstetric complications, neonatal outcomes are mostly favorable. Increased knowledge is needed to improve and prevent obstetric and neonatal complications from these infections in pregnant women.
Topics: Adult; Betacoronavirus; COVID-19; Cesarean Section; Coronavirus Infections; Female; Fever; Humans; Infant, Newborn; Middle East Respiratory Syndrome Coronavirus; Pandemics; Pneumonia, Viral; Pregnancy; Pregnancy Complications, Infectious; Pregnancy Outcome; Premature Birth; Severe acute respiratory syndrome-related coronavirus; SARS-CoV-2; Severe Acute Respiratory Syndrome; Symptom Assessment
PubMed: 32683837
DOI: 10.37201/req/064.2020 -
PloS One 2020Patients 65 years old and older largely represent (>50%) hospital-admitted patients with acute coronary syndrome (ACS). Data are conflicting comparing efficacy of early... (Comparative Study)
Comparative Study Meta-Analysis
A systematic review and meta-analysis on the effectiveness of an invasive strategy compared to a conservative approach in patients > 65 years old with non-ST elevation acute coronary syndrome.
BACKGROUND
Patients 65 years old and older largely represent (>50%) hospital-admitted patients with acute coronary syndrome (ACS). Data are conflicting comparing efficacy of early routine invasive (within 48-72 hours of initial evaluation) versus conservative management of ACS in this population.
OBJECTIVE
We aimed to determine the effectiveness of routine early invasive strategy compared to conservative treatment in reducing major adverse cardiovascular events in patients 65 years old and older with non-ST elevation (NSTE) ACS.
DATA SOURCES
We conducted a systematic review of randomized controlled trials (RCTs) through PubMed, Cochrane, and Google Scholar database.
STUDY SELECTION
The studies included were RCTs that evaluated the effectiveness of invasive strategy compared to conservative treatment among patients ≥ 65 years old diagnosed with NSTEACS. Studies were included if they assessed any of the following outcomes of death, cardiovascular mortality, myocardial infarction (MI), stroke, recurrent angina, and need for revascularization. Six articles were subsequently included in the meta-analysis.
DATA EXTRACTION
Three independent reviewers extracted the data of interest from the articles using a standardized data collection form that included study quality indicators. Disparity in assessment was adjudicated by another reviewer.
DATA SYNTHESIS
All pooled analyses were initially done using Fixed Effects model. For pooled analyses with significant heterogeneity (I2≥ 50%), the Random Effects model was used. A total of 3,768 patients were included, 1,986 in the invasive strategy group, and 1,782 in the conservative treatment group.
RESULTS
Meta-analysis showed less incidence of revascularization in the invasive (2%) over conservative treatment groups (8%), with overall risk ratio of 0.29 (95% CI 0.14 to 0.59). Across all pooled studies, no significant effect of invasive strategy on all-cause mortality, cardiovascular mortality, stroke, and MI was observed. Only one study assessed the outcome of recurrent angina.
CONCLUSION
There was a significantly lower rate of revascularization in the invasive strategy group compared to the conservative treatment group. In the reduction of all-cause mortality, cardiovascular mortality, MI, and stroke there was no significant effect of invasive strategy versus conservative treatment. This finding does not support the bias against early routine invasive intervention in patients ≥ 65 years old with NSTEACS. Further studies focusing on these patients with larger population sizes are still needed.
Topics: Acute Coronary Syndrome; Aged; Aged, 80 and over; Cardiac Catheterization; Conservative Treatment; Coronary Artery Bypass; Female; Humans; Male; Myocardial Revascularization; Non-ST Elevated Myocardial Infarction; Percutaneous Coronary Intervention; Randomized Controlled Trials as Topic
PubMed: 32106261
DOI: 10.1371/journal.pone.0229491 -
Neonatology 2016Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available, they even die even before the sample for NBS has been drawn or because there are IEMs which are not included in the NBS programmes.
OBJECTIVES AND METHODS
This was a comprehensive systematic literature review to identify all IEMs associated with SID, including their treatability and detectability by NBS technologies. Reye syndrome (RS) was included in the search strategy because this condition can be considered a possible pre-stage of SID in a continuum of aggravating symptoms.
RESULTS
43 IEMs were identified that were associated with SID and/or RS. Of these, (1) 26 can already present during the neonatal period, (2) treatment is available for at least 32, and (3) 26 can currently be identified by the analysis of acylcarnitines and amino acids in dried bloodspots (DBS).
CONCLUSION
We advocate an extensive analysis of amino acids and acylcarnitines in blood/plasma/DBS and urine for all children who died suddenly and/or unexpectedly, including neonates in whom blood had not yet been drawn for the routine NBS test. The application of combined metabolite screening and DNA-sequencing techniques would facilitate fast identification and maximal diagnostic yield. This is important information for clinicians who need to maintain clinical awareness and decision-makers to improve population NBS programmes.
Topics: Amino Acids; Autopsy; Carnitine; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Reye Syndrome; Sudden Infant Death
PubMed: 26907928
DOI: 10.1159/000443874