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Journal of Pediatric Gastroenterology... May 2022The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms...
BACKGROUND AND AIMS
The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease.
METHODS
Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored.
RESULTS
One hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3-29.4). Most patients underwent abdominal surgery (66%), about half required intermittent bladder catheterization (48.5%), and more than half were parenteral nutrition (PN)-dependent (53%). One-quarter of the patients died (25.7%), and 6 required transplant (5.8%). Girls had a higher rate of microcolon (P = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (<2 years of age) was associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) features. There was no statistical association between disease characteristics and CADD scores.
CONCLUSIONS
Damaging ACTG2 variants are rare, often associated with MMIHS phenotype, and overall have a wide phenotypic variation. Symptoms usually present in the perinatal period but can also appear at a later age. The course of the disease is marked by frequent need for surgical interventions, PN support, and mortality. Poor outcomes are more common among girls with ACTG2 variants.
Topics: Abnormalities, Multiple; Actins; Colon; Female; Humans; Intestinal Pseudo-Obstruction; Male; Phenotype; Pregnancy; Urinary Bladder
PubMed: 35149643
DOI: 10.1097/MPG.0000000000003400 -
Clinical Cardiology Feb 2022A significant proportion of patients (pts) with peripheral artery disease (PAD) have concomitant coronary artery disease and polyvascular involvement contributes to... (Meta-Analysis)
Meta-Analysis
Cardiac troponins predict mortality and cardiovascular outcomes in patients with peripheral artery disease: A systematic review and meta-analysis of adjusted observational studies.
BACKGROUND
A significant proportion of patients (pts) with peripheral artery disease (PAD) have concomitant coronary artery disease and polyvascular involvement contributes to increased risk of death and unfavorable cardiovascular events.
HYPOTHESIS
Cardiac troponins are associated with adverse cardiovascular outcomes in PAD pts.
METHODS
We systematically searched Medline and Scopus to identify all observational cohort studies published before June 2021 (combining terms "troponin," "peripheral artery disease," "peripheral arterial disease," "intermittent claudication," and "critical limb ischemia") that evaluated the prognostic impact of troponin rise on admission on all-cause mortality and/or major cardiovascular events (MACEs; composite of myocardial infarction, stroke, and cardiovascular death) in PAD pts followed up at least 6 months. A meta-analysis was conducted using the generic inverse variance method. Heterogeneity between studies was investigated using Cochrane's Q test and I statistic.
RESULTS
Eight studies were included in the final analysis (5313 pts) with a median follow-up of 27 months (interquartile range: 12-59 months). The prevalence of troponin positivity was 5.3% (range: 4.4%-8.7%) in pts with intermittent claudication, and 62.6% (range: 33.6%-85%) in critical limb ischemia. Elevated troponins were significantly associated with an increased risk of all-cause mortality (hazard ratio [HR]: 2.85, 95% confidence interval [CI]: 2.28-3.57; I = 50.97%), and MACE (HR: 2.58, 95% CI: 2.04-3.26; I = 4.00%) without publication bias (p = .24 and p = .10, respectively).
CONCLUSION
Troponin rise on admission is associated with adverse long-term cardiovascular outcomes in symptomatic PAD.
Topics: Humans; Intermittent Claudication; Myocardial Infarction; Peripheral Arterial Disease; Risk Factors; Stroke; Troponin
PubMed: 35132665
DOI: 10.1002/clc.23776 -
Experimental and Clinical... Jul 2022Cardiac troponin is a highly specific biomarker of myocardial injury that is of prognostic significance in a range of cardiovascular diseases. However, the prognostic... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Cardiac troponin is a highly specific biomarker of myocardial injury that is of prognostic significance in a range of cardiovascular diseases. However, the prognostic value of elevated troponin in cardiac transplant recipients is uncertain. We aimed to evaluate the prognostic value of elevated cardiac troponin in predicting adverse recipient outcomes following heart transplant.
MATERIALS AND METHODS
We searched MEDLINE (Ovid), Embase (Ovid), and the Cochrane Library from inception until December 2020 and included studies reporting associations between elevated recipient troponin and outcomes after cardiac transplant. We generated summary odds ratios for associations with short- and long-term adverse events and used descriptive analyses where meta-analyses were inappropriate.
RESULTS
We included 15 studies involving 1830 patients undergoing cardiac transplant. The risk of primary graft failure was greater in recipients with elevated troponin than in those without (odds ratio = 3.09; 95% CI, 1.08-8.87). Considerable interstudy heterogeneity (I2 statistic 98%) was partially explained by variations in study design, troponin subtype, and overall risk of bias. Descriptive analyses suggested associations between elevated recipient troponin and long-term adverse cardiac events, coronary artery disease, and mortality.
CONCLUSIONS
Elevated cardiac troponin in cardiac transplant recipients may be prognostic for primary graft failure, adverse cardiac events, coronary artery disease, and mortality. Further high-quality, prospective, and multicenter research is needed to demonstrate the clinical applicability of these findings.
Topics: Adult; Coronary Artery Disease; Heart Transplantation; Humans; Multicenter Studies as Topic; Prognosis; Prospective Studies; Treatment Outcome; Troponin
PubMed: 35037610
DOI: 10.6002/ect.2021.0386 -
Acta Medica Indonesiana Oct 2021This study aimed to summarize the prognosis of Corona Virus Disease 2019 (COVID-19) patients with elevated troponin and N-terminal pro brain natriuretic peptide...
BACKGROUND
This study aimed to summarize the prognosis of Corona Virus Disease 2019 (COVID-19) patients with elevated troponin and N-terminal pro brain natriuretic peptide (NT-proBNP) levels and demonstrate the involvement of myocardial injury as a complication in COVID-19.
METHODS
A systematic literature search was performed using several databases (PubMed, MEDLINE, PROQUEST and SCOPUS ) for studies published up to August 2020. Observational studies about the mortality outcome of COVID-19 patients who experienced cardiac injury, as defined by the elevation of serum levels of troponin, brain natriuretic peptide (BNP), with NT-proBNP or only BNP or only NT-proBNP, were included. In addition, a critical appraisal was conducted for all included studies using the Critical Appraisal for Prognostic Studies checklist published by the Centre for Evidence-Based Medicine by the University of Oxford.
RESULTS
Seven retrospective observational studies fulfilled the inclusion criteria. This study found that there is a higher risk of death in COVID 19 patients with higher levels of troponin and NT-proBNP, indicating the importance of these biomarkers as determinant factors to predict in-hospital deaths.
CONCLUSION
Based on the analysis, elevation of troponin and NT-proBNP levels plays an essential role in determining the patient prognosis because it is shown to be associated with in-hospital mortality. This also supports the involvement of myocardial injury as a prominent fatal complication in COVID-19.
Topics: Biomarkers; COVID-19; Humans; Natriuretic Peptide, Brain; Observational Studies as Topic; Peptide Fragments; Prognosis; Retrospective Studies; SARS-CoV-2; Troponin
PubMed: 35027485
DOI: No ID Found -
BMC Cardiovascular Disorders Dec 2021The majority of studies evaluating the effect of myocardial injury on the survival of COVID-19 patients have been performed outside of the United States (U.S.). These... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
The majority of studies evaluating the effect of myocardial injury on the survival of COVID-19 patients have been performed outside of the United States (U.S.). These studies have often utilized definitions of myocardial injury that are not guideline-based and thus, not applicable to the U.S.
METHODS
The current study is a two-part investigation of the effect of myocardial injury on the clinical outcome of patients hospitalized with COVID-19. The first part is a retrospective analysis of 268 patients admitted to our healthcare system in Toledo, Ohio, U.S.; the second part is a systematic review and meta-analysis of all similar studies performed within the U.S.
RESULTS
In our retrospective analysis, patients with myocardial injury were older (mean age 73 vs. 59 years, P 0.001), more likely to have hypertension (86% vs. 67%, P 0.005), underlying cardiovascular disease (57% vs. 24%, P 0.001), and chronic kidney disease (26% vs. 10%, P 0.004). Myocardial injury was also associated with a lower likelihood of discharge to home (35% vs. 69%, P 0.001), and a higher likelihood of death (33% vs. 10%, P 0.001), acute kidney injury (74% vs. 30%, P 0.001), and circulatory shock (33% vs. 12%, P 0.001). Our meta-analysis included 12,577 patients from 8 U.S. states and 55 hospitals who were hospitalized with COVID-19, with the finding that myocardial injury was significantly associated with increased mortality (HR 2.43, CI 2.28-3.6, P 0.0005). The prevalence of myocardial injury ranged from 9.2 to 51%, with a mean prevalence of 27.2%.
CONCLUSION
Hospitalized COVID-19 patients in the U.S. have a high prevalence of myocardial injury, which was associated with poorer survival and outcomes.
Topics: Aged; COVID-19; Cardiovascular Diseases; Female; Hospitalization; Humans; Male; Middle Aged; Myocardial Infarction; Ohio; Prognosis; Renal Insufficiency, Chronic; Retrospective Studies; SARS-CoV-2; Troponin I
PubMed: 34972516
DOI: 10.1186/s12872-021-02450-3 -
The Western Journal of Emergency... Oct 2021The diagnosis of non-ST-elevated myocardial infarction (NSTEMI) depends on a combination of history, electrocardiogram, and cardiac biomarkers. The most sensitive and...
INTRODUCTION
The diagnosis of non-ST-elevated myocardial infarction (NSTEMI) depends on a combination of history, electrocardiogram, and cardiac biomarkers. The most sensitive and specific biomarkers for cardiac injury are the troponin assays. Many hospitals continue to automatically order less sensitive and less specific biomarkers such as creatine kinase (CK) alongside cardiac troponin (cTn) for workup of patients with chest pain. The objective of this systematic review was to identify whether CK testing is useful in the workup of patients with NSTEMI symptoms.
METHODS
We undertook a systematic review to ascertain whether CK ordered as part of the workup for NSTEMI was useful in screening patients with cardiac chest pain. The MEDLINE, Embase, and Cochrane databases were searched from January 1995-September 2020. Additional papers were added after consultation with experts. We screened a total of 2,865 papers, of which eight were included in the final analysis. These papers all compared CK and cTn for NSTEMI diagnosis.
RESULTS
In each of the eight papers included in the analysis, cTn showed a greater sensitivity and specificity than CK in the diagnosis of NSTEMI. Furthermore, none of the articles published reliable evidence that CK is useful in NSTEMI diagnosis when troponin was negative.
CONCLUSION
There is no evidence to continue to use CK as part of the workup of NSTEMI acute coronary syndrome in undifferentiated chest pain patients. We conclude that CK should not be used to screen patients presenting to the emergency department with chest pain.
Topics: Biomarkers; Chest Pain; Creatine Kinase; Electrocardiography; Humans; Non-ST Elevated Myocardial Infarction; Troponin; Troponin T
PubMed: 34787553
DOI: 10.5811/westjem.2020.11.47709 -
Journal of Infection and Public Health Sep 2021To systematically investigate the relationship between cardiac biomarkers and COVID-19 severity and mortality. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To systematically investigate the relationship between cardiac biomarkers and COVID-19 severity and mortality.
METHODS
We performed a literature search using PubMed, Web of Science, and Google Scholar. The standardized mean difference (SMD) and 95% confidence interval (CI) were applied to estimate the combined results of 67 studies. A meta-analysis of cardiac biomarkers was used to evaluate disease mortality and severity in COVID-19 patients.
RESULTS
A meta-analysis of 7812 patients revealed that patients with high levels of cardiac troponin I (SMD = 0.81 U/L, 95% CI = 0.14-1.48, P = 0.017), cardiac troponin T (SMD = 0.78 U/L, 95% CI = 0.07-1.49, P = 0.032), high-sensitive cardiac troponin I (SMD = 0.66 pg/mL, 95% CI = 0.51-0.81, P < 0.001), high-sensitive cardiac troponin T (SMD = 0.93 U/L, 95% CI = 0.21-1.65, P = 0.012), creatine kinase-MB (SMD = 0.54 U/L, 95% CI = 0.39-0.69, P < 0.001), and myoglobin (SMD = 0.80 U/L, 95% CI = 0.57-1.03, P < 0.001) were associated with prominent disease severity in COVID-19 infection. Moreover, 9532 patients with a higher serum level of cardiac troponin I (SMD = 0.51 U/L, 95% CI = 0.37-0.64, P < 0.001), high-sensitive cardiac troponin (SMD = 0.51 ng/L, 95% CI = 0.29-0.73, P < 0.001), high-sensitive cardiac troponin I (SMD = 0.51 pg/mL, 95% CI = 0.38-0.63, P < 0.001), high-sensitive cardiac troponin T (SMD = 0.85 U/L, 95% CI = 0.63-1.07, P < 0.001), creatine kinase-MB (SMD = 0.48 U/L, 95% CI = 0.32-0.65, P < 0.001), and myoglobin (SMD = 0.55 U/L, 95% CI = 0.45-0.65, P < 0.001) exhibited a prominent level of mortality from COVID-19 infection.
CONCLUSION
Cardiac biomarkers (cardiac troponin I, cardiac troponin T, high-sensitive cardiac troponin, high-sensitive cardiac troponin I, high-sensitive cardiac troponin T, creatine kinase-MB, and myoglobin) should be more frequently applied in identifying high-risk COVID-19 patients so that timely treatment can be implemented to reduce severity and mortality in COVID-19 patients.
Topics: Biomarkers; COVID-19; Creatine Kinase, MB Form; Humans; Myoglobin; Severity of Illness Index; Troponin I; Troponin T
PubMed: 34416596
DOI: 10.1016/j.jiph.2021.07.016 -
BMJ Open Aug 2021The study aimed to compare the predictive values of the thrombolysis in myocardial infarction (TIMI); History, Electrocardiography, Age, Risk factors and Troponin... (Meta-Analysis)
Meta-Analysis
Indirect comparison of TIMI, HEART and GRACE for predicting major cardiovascular events in patients admitted to the emergency department with acute chest pain: a systematic review and meta-analysis.
BACKGROUND
The study aimed to compare the predictive values of the thrombolysis in myocardial infarction (TIMI); History, Electrocardiography, Age, Risk factors and Troponin (HEART) and Global Registry in Acute Coronary Events (GRACE) scoring systems for major adverse cardiovascular events (MACEs) in acute chest pain (ACP) patients admitted to the emergency department (ED).
METHODS
We systematically searched PubMed, Embase and the Cochrane Library from their inception to June 2020; we compared the following parameters: sensitivity, specificity, positive and negative likelihood ratios (PLR and NLR), diagnostic OR (DOR) and area under the receiver operating characteristic curves (AUC).
RESULTS
The pooled sensitivity and specificity for TIMI, HEART and GRACE were 0.95 and 0.36, 0.96 and 0.50, and 0.78 and 0.56, respectively. The pooled PLR and NLR for TIMI, HEART and GRACE were 1.49 and 0.13, 1.94 and 0.08, and 1.77 and 0.40, respectively. The pooled DOR for TIMI, HEART and GRACE was 9.18, 17.92 and 4.00, respectively. The AUC for TIMI, HEART and GRACE was 0.80, 0.80 and 0.70, respectively. Finally, the results of indirect comparison suggested the superiority of values of TIMI and HEART to those of GRACE for predicting MACEs, while there were no significant differences between TIMI and HEART for predicting MACEs.
CONCLUSIONS
TIMI and HEART were superior to GRACE for predicting MACE risk in ACP patients admitted to the ED.
Topics: Chest Pain; Electrocardiography; Emergency Service, Hospital; Humans; Myocardial Infarction; Prospective Studies; Registries; Risk Assessment; Risk Factors; Triage; Troponin
PubMed: 34408048
DOI: 10.1136/bmjopen-2020-048356 -
Immunity, Inflammation and Disease Dec 2021To explore the correlation between cardiac-related comorbidities, cardiac biomarkers, acute myocardial injury, and severity level, outcomes in COVID-19 patients. (Meta-Analysis)
Meta-Analysis Review
Cardiac biomarkers, cardiac injury, and comorbidities associated with severe illness and mortality in coronavirus disease 2019 (COVID-19): A systematic review and meta-analysis.
AIMS
To explore the correlation between cardiac-related comorbidities, cardiac biomarkers, acute myocardial injury, and severity level, outcomes in COVID-19 patients.
METHOD
Pubmed, Web of Science, Embase, CNKI, VIP, Wanfang, Cochrane Library databases, medRxiv, and Sinomed were reviewed systemically. Various types of clinical research reporting cardiac-related comorbidities, cardiac biomarkers including lactate dehydrogenase (LDH), troponin I (TnI), high sensitivity troponin I (hs-TnI), creatine kinase (CK), creatine kinase-MB (CK-MB), myoglobin (Myo), N-terminal pro-b-type natriuretic peptide (NT-proBNP) and acute cardiac injury grouped by severity of COVID-19 were included. Outcome measures were events and total sample size for comorbidities, acute cardiac injury, and laboratory parameters of these biomarkers. The study was performed with Stata version 15.1.
RESULTS
Seventy studies, with a total of 15,354 cases were identified. The results showed that COVID-19's severity was related to cardiovascular disease. Similar odds ratios (ORs) were achieved in hypertension except for severe versus critical group (OR = 1.406; 95% CI, 0.942-2.097; p = .095). The relative risk (RR) of acute cardiac injury is 7.01 (95% CI, 5.64-8.71) in non-survivor cases. When compared with the different severity of cardiac biomarkers, the pool OR of CK, CK-MB, TnI, Myo and LDH were 2.683 (95% CI, 0.83-8.671; p = .106; I = 0%), 2.263 (95% CI, 0.939-5.457; p = .069), 1.242 (95% CI, 0.628-2.457; p = .534), 1.756 (95% CI, 0.608-5.071; p = .298; I = 42.3%), 1.387 (95% CI, 0.707-2.721; p = .341; I = 0%) in the critical versus severe group, whose trends were not similar to other groups. The standard mean differences (SMD) of CK and TnI in the critical versus severe group were 0.09 (95% CI, -0.33 to 0.50; p = .685; I = 65.2%), 0.478 (95% CI, -0.183 to 1.138; p = .156; I = 76.7%), which means no difference was observed in the serum level of these indicators.
CONCLUSION
Most of the findings clearly indicate that hypertension, cardiovascular disease, acute cardiac injury, and related laboratory indicators are associated with the severity of COVID-19. What is now needed are cross-national prospectively designed observational or clinical trials that will help improve the certainty of the available evidence and treatment decisions for patients.
Topics: Biomarkers; COVID-19; Creatine Kinase, MB Form; Humans; SARS-CoV-2; Troponin I
PubMed: 34405950
DOI: 10.1002/iid3.471 -
PloS One 2021COVID-19 has been reported in over 40million people globally with variable clinical outcomes. In this systematic review and meta-analysis, we assessed demographic,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
COVID-19 has been reported in over 40million people globally with variable clinical outcomes. In this systematic review and meta-analysis, we assessed demographic, laboratory and clinical indicators as predictors for severe courses of COVID-19.
METHODS
This systematic review was registered at PROSPERO under CRD42020177154. We systematically searched multiple databases (PubMed, Web of Science Core Collection, MedRvix and bioRvix) for publications from December 2019 to May 31st 2020. Random-effects meta-analyses were used to calculate pooled odds ratios and differences of medians between (1) patients admitted to ICU versus non-ICU patients and (2) patients who died versus those who survived. We adapted an existing Cochrane risk-of-bias assessment tool for outcome studies.
RESULTS
Of 6,702 unique citations, we included 88 articles with 69,762 patients. There was concern for bias across all articles included. Age was strongly associated with mortality with a difference of medians (DoM) of 13.15 years (95% confidence interval (CI) 11.37 to 14.94) between those who died and those who survived. We found a clinically relevant difference between non-survivors and survivors for C-reactive protein (CRP; DoM 69.10 mg/L, CI 50.43 to 87.77), lactate dehydrogenase (LDH; DoM 189.49 U/L, CI 155.00 to 223.98), cardiac troponin I (cTnI; DoM 21.88 pg/mL, CI 9.78 to 33.99) and D-Dimer (DoM 1.29mg/L, CI 0.9 to 1.69). Furthermore, cerebrovascular disease was the co-morbidity most strongly associated with mortality (Odds Ratio 3.45, CI 2.42 to 4.91) and ICU admission (Odds Ratio 5.88, CI 2.35 to 14.73).
DISCUSSION
This comprehensive meta-analysis found age, cerebrovascular disease, CRP, LDH and cTnI to be the most important risk-factors that predict severe COVID-19 outcomes and will inform clinical scores to support early decision-making.
Topics: C-Reactive Protein; COVID-19; Cerebrovascular Disorders; Fibrin Fibrinogen Degradation Products; Humans; L-Lactate Dehydrogenase; Troponin I
PubMed: 34324560
DOI: 10.1371/journal.pone.0255154