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Neurological Sciences : Official... May 2024Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in... (Review)
Review
INTRODUCTION AND METHODS
Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a "pure myopathy," cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease.
RESULTS
Our systematic literature revision identified 7 case reports and 1 retrospective cohort study. The case reports described 7 GSD-V patients, averaging 54.3 years in age, mostly male (85.7%). Coronary artery disease was noted in 57.1% of cases, hypertrophic cardiomyopathy in 28.5%, severe aortic stenosis in 14.3%, and genetic dilated cardiomyopathy in one. In the retrospective cohort study, five out of 14 subjects (36%) had coronary artery disease.
DISCUSSION AND CONCLUSION
Despite McArdle disease primarily affecting skeletal muscle, cardiac involvement has been observed, especially coronary artery disease, the frequency of which was moreover found to be higher in McArdle patients than in the background population in a previous study from a European registry. Exaggerated cardiovascular responses during exercise and impaired glycolytic metabolism have been speculated as potential contributors. A comprehensive cardiological screening might be recommended for McArdle disease patients to detect and manage cardiac comorbidities. A multidisciplinary approach is crucial to effectively manage both neurological and cardiac aspects of the disease and improve patient outcomes. Further research is required to establish clearer pathophysiological links between McArdle disease and cardiac manifestations in order to clarify the existing findings.
PubMed: 38802689
DOI: 10.1007/s10072-024-07600-x -
Journal of Vascular Surgery May 2024Race-based disparities in health care have been related to a myriad of prevailing factors among minorities in the United States. This study aims to study the race-based... (Review)
Review
OBJECTIVE
Race-based disparities in health care have been related to a myriad of prevailing factors among minorities in the United States. This study aims to study the race-based differences in the outcomes of carotid endarterectomy (CEA).
METHODS
The PROSPERO database registered the review protocol (CRD42023428253). A systematic English literature review was performed using literature databases PubMed and Scopus from inception till June 2023. The review was designed on the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines and included studies reporting mortality, stroke, or composite outcome of mortality and stroke after CEA for carotid artery disease, regardless of any degree of stenosis including both symptomatic and asymptomatic patients. The risk of bias was evaluated utilizing the Risk of Bias in Non-randomized Studies - of Interventions (ROBINS-I) tool. A pooled odds ratio (OR) for the overall mortality was computed, and a P value of < .05 was designated as statistically significant. Interstudy heterogeneity was evaluated by Q-metric and quantified using Higgins I statistics.
RESULTS
Twelve studies were identified which included a total of 574,055 patients who underwent CEA from 1998 to 2022. Eleven of 12 studies reported 30-day mortality as an outcome for patients undergoing CEA in which 524,708 patients (92.5%) were White and 42,797 (7.5%) were non-White. The overall pooled OR indicated a statistical significance in 30-day mortality between White and non-White patients undergoing CEA (OR, 1.73; 95% confidence interval [CI], 1.37-2.18; P = .011) with substantial heterogeneity (I = 56.3%). Eleven of 12 studies reported stroke as an outcome for patients undergoing CEA in which 524,708 patients (92.5%) were White and 42,801 (7.5%) were non-White. The overall pooled OR indicated no statistical significance in stroke between White and non-White patients undergoing CEA (OR, 1.46; 95% CI, 1.28-1.65; P = .111) with moderate heterogeneity (I = 35.9%). Five of 12 studies reported composite mortality or stroke as an outcome for patients undergoing CEA. The overall pooled OR indicated no statistical significance in composite mortality or stroke between White and non-White patients undergoing CEA (OR, 1.40; 95% CI, 1.24-1.59; P = .467) with no heterogeneity (I = 0.0%).
CONCLUSIONS
Non-White patients have a relatively higher risk of mortality; however, no significant difference was observed between the racial groups in terms of stroke or a composite outcome of mortality or stroke. The odds of mortality in non-White patients have been persistent throughout recent studies.
PubMed: 38782214
DOI: 10.1016/j.jvs.2024.05.034 -
The Cochrane Database of Systematic... May 2024Acute heart failure (AHF) is new onset of, or a sudden worsening of, chronic heart failure characterised by congestion in about 95% of cases or end-organ hypoperfusion... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Acute heart failure (AHF) is new onset of, or a sudden worsening of, chronic heart failure characterised by congestion in about 95% of cases or end-organ hypoperfusion in 5% of cases. Treatment often requires urgent escalation of diuretic therapy, mainly through hospitalisation. This Cochrane review evaluated the efficacy of intravenous loop diuretics strategies in treating AHF in individuals with New York Heart Association (NYHA) classification III or IV and fluid overload.
OBJECTIVES
To assess the effects of intravenous continuous infusion versus bolus injection of loop diuretics for the initial treatment of acute heart failure in adults.
SEARCH METHODS
We identified trials through systematic searches of bibliographic databases and in clinical trials registers including CENTRAL, MEDLINE, Embase, CPCI-S on the Web of Science, ClinicalTrials.gov, the World Health Organization (WHO) International Clinical Trials Registry platform (ICTRP), and the European Union Trials register. We conducted reference checking and citation searching, and contacted study authors to identify additional studies. The latest search was performed on 29 February 2024.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) involving adults with AHF, NYHA classification III or IV, regardless of aetiology or ejection fraction, where trials compared intravenous continuous infusion of loop diuretics with intermittent bolus injection in AHF. We excluded trials with chronic stable heart failure, cardiogenic shock, renal artery stenosis, or end-stage renal disease. Additionally, we excluded studies combining loop diuretics with hypertonic saline, inotropes, vasoactive medications, or renal replacement therapy and trials where diuretic dosing was protocol-driven to achieve a target urine output, due to confounding factors.
DATA COLLECTION AND ANALYSIS
Two review authors independently screened papers for inclusion and reviewed full-texts. Outcomes included weight loss, all-cause mortality, length of hospital stay, readmission following discharge, and occurrence of acute kidney injury. We performed risk of bias assessment and meta-analysis where data permitted and assessed certainty of the evidence.
MAIN RESULTS
The review included seven RCTs, spanning 32 hospitals in seven countries in North America, Europe, and Asia. Data collection ranged from eight months to six years. Following exclusion of participants in subgroups with confounding treatments and different clinical settings, 681 participants were eligible for review. These additional study characteristics, coupled with our strict inclusion and exclusion criteria, improve the applicability of the body of the evidence as they reflect real-world clinical practice. Meta-analysis was feasible for net weight loss, all-cause mortality, length of hospital stay, readmission, and acute kidney injury. Literature review and narrative analysis explored daily fluid balance; cardiovascular mortality; B-type natriuretic peptide (BNP) change; N-terminal-proBNP change; and adverse incidents such as ototoxicity, hypotension, and electrolyte imbalances. Risk of bias assessment revealed two studies with low overall risk, four with some concerns, and one with high risk. All sensitivity analyses excluded trials at high risk of bias. Only narrative analysis was conducted for 'daily fluid balance' due to diverse data presentation methods across two studies (169 participants, the evidence was very uncertain about the effect). Results of narrative analysis varied. For instance, one study reported higher daily fluid balance within the first 24 hours in the continuous infusion group compared to the bolus injection group, whereas there was no difference in fluid balance beyond this time point. Continuous intravenous infusion of loop diuretics may result in mean net weight loss of 0.86 kg more than bolus injection of loop diuretics, but the evidence is very uncertain (mean difference (MD) 0.86 kg, 95% confidence interval (CI) 0.44 to 1.28; 5 trials, 497 participants; P < 0.001, I = 21%; very low-certainty evidence). Importantly, sensitivity analysis excluding trials with high risk of bias showed there was insufficient evidence for a difference in bodyweight loss between groups (MD 0.70 kg, 95% CI -0.06 to 1.46; 3 trials, 378 participants; P = 0.07, I = 0%). There may be little to no difference in all-cause mortality between continuous infusion and bolus injection (risk ratio (RR) 1.53, 95% CI 0.81 to 2.90; 5 trials, 530 participants; P = 0.19, I = 4%; low-certainty evidence). Despite sensitivity analysis, the direction of the evidence remained unchanged. No trials measured cardiovascular mortality. There may be little to no difference in the length of hospital stay between continuous infusion and bolus injection of loop diuretics, but the evidence is very uncertain (MD -1.10 days, 95% CI -4.84 to 2.64; 4 trials, 211 participants; P = 0.57, I = 88%; very low-certainty evidence). Sensitivity analysis improved heterogeneity; however, the direction of the evidence remained unchanged. There may be little to no difference in the readmission to hospital between continuous infusion and bolus injection of loop diuretics (RR 0.85, 95% CI 0.63 to 1.16; 3 trials, 400 participants; P = 0.31, I = 0%; low-certainty evidence). Sensitivity analysis continued to show insufficient evidence for a difference in the readmission to hospital between groups. There may be little to no difference in the occurrence of acute kidney injury as an adverse event between continuous infusion and bolus injection of intravenous loop diuretics (RR 1.02, 95% CI 0.70 to 1.49; 3 trials, 491 participants; P = 0.92, I = 0%; low-certainty evidence). Sensitivity analysis continued to show that continuous infusion may make little to no difference on the occurrence of acute kidney injury as an adverse events compared to the bolus injection of intravenous loop diuretics.
AUTHORS' CONCLUSIONS
Analysis of available data comparing two delivery methods of diuretics in acute heart failure found that the current data are insufficient to show superiority of one strategy intervention over the other. Our findings were based on trials meeting stringent inclusion and exclusion criteria to ensure validity. Despite previous reviews suggesting advantages of continuous infusion over bolus injections, our review found insufficient evidence to support or refute this. However, our review, which excluded trials with clinical confounders and RCTs with high risk of bias, offers the most robust conclusion to date.
Topics: Adult; Aged; Humans; Acute Disease; Bias; Cause of Death; Heart Failure; Infusions, Intravenous; Injections, Intravenous; Length of Stay; Randomized Controlled Trials as Topic; Sodium Potassium Chloride Symporter Inhibitors
PubMed: 38775253
DOI: 10.1002/14651858.CD014811.pub2 -
Clinical Neurology and Neurosurgery Jul 2024Basilar artery stenting is a rescue therapy in the management of hyperacute stroke. Published data on efficacy and safety are limited.
BACKGROUND AND PURPOSE
Basilar artery stenting is a rescue therapy in the management of hyperacute stroke. Published data on efficacy and safety are limited.
METHODS
A systematic review of published studies was performed in accordance with PRISMA guidelines. Inclusion criteria were adult patients with ischemic stroke with permanent basilar artery stent placement within 48 h of onset. Data were extracted by two independent reviewers. Additional cases from our institution were identified via a local stroke registry.
RESULTS
Of 212 screened articles, patient-level data was reported in 35 studies (87 individuals) and six additional patients were included from our registry. Patients (n = 93, 63 % male; median age 64) most often presented with mid-basilar occlusion (52 %) and 76 % received treatment within 12 hours of onset. Favorable angiographic results occurred in 67 %. The final modified Rankin Scale score (mRS) was 0-3 for 56 % of patients; mortality was 29 %. Those with complete flow post-procedure were more likely to have a final mRS of 0-3 (p = 0.05).
CONCLUSIONS
In 93 cases of basilar stenting in hyperacute stroke, favourable angiographic and functional outcomes were reported in 67 % and 56 % of patients, respectively. International multicenter registries are required to establish benefit and identify patient and technical factors that predict favorable outcomes.
Topics: Humans; Stents; Basilar Artery; Stroke; Endovascular Procedures; Treatment Outcome; Ischemic Stroke; Male; Female; Middle Aged
PubMed: 38761504
DOI: 10.1016/j.clineuro.2024.108327 -
Journal of the American Heart... May 2024Coronary pressure indices to assess coronary artery disease are currently underused in patients with aortic stenosis due to many potential physiological effects that... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Coronary pressure indices to assess coronary artery disease are currently underused in patients with aortic stenosis due to many potential physiological effects that might hinder their interpretation. Studies with varying sample sizes have provided us with conflicting results on the effect of transcatheter aortic valve replacement (TAVR) on these indices. The aim of this meta-analysis was to study immediate and long-term effects of TAVR on fractional flow reserve (FFR) and nonhyperemic pressure ratios (NHPRs).
METHODS AND RESULTS
Lesion-specific coronary pressure data were extracted from 6 studies, resulting in 147 lesions for immediate change in FFR analysis and 105 for NHPR analysis. To investigate the long-term changes, 93 lesions for FFR analysis and 68 for NHPR analysis were found. Lesion data were pooled and compared with paired tests. Immediately after TAVR, FFR decreased significantly (-0.0130±0.0406 SD, : 0.0002) while NHPR remained stable (0.0003±0.0675, : 0.9675). Long-term after TAVR, FFR decreased significantly (-0.0230±0.0747, : 0.0038) while NHPR increased nonsignificantly (0.0166±0.0699, : 0.0543). When only borderline NHPR lesions were considered, this increase became significant (0.0249±0.0441, : 0.0015). Sensitivity analysis confirmed our results in borderline lesions.
CONCLUSIONS
TAVR resulted in small significant, but opposite, changes in FFR and NHPR. Using the standard cut-offs in patients with severe aortic stenosis, FFR might underestimate the physiological significance of a coronary lesion while NHPRs might overestimate its significance. The described changes only play a clinically relevant role in borderline lesions. Therefore, even in patients with aortic stenosis, an overtly positive or negative physiological assessment can be trusted.
Topics: Humans; Aortic Valve; Aortic Valve Stenosis; Coronary Artery Disease; Coronary Vessels; Fractional Flow Reserve, Myocardial; Hyperemia; Severity of Illness Index; Transcatheter Aortic Valve Replacement; Treatment Outcome
PubMed: 38761080
DOI: 10.1161/JAHA.124.034401 -
Journal of the American Heart... May 2024Fractional flow reserve (FFR) is the ratio of blood pressure measured distal to a stenosis and pressure proximal to a stenosis. FFR can be estimated noninvasively using... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Fractional flow reserve (FFR) is the ratio of blood pressure measured distal to a stenosis and pressure proximal to a stenosis. FFR can be estimated noninvasively using computed tomography (CT) although the usefulness of this technique remains controversial. This meta-analysis evaluated the agreement of FFR estimated by CT (FFR-CT) with invasively measured FFR. The study also evaluated the diagnostic accuracy of FFR-CT, defined as the ability of FFR-CT to classify lesions as hemodynamically significant (invasive FFR ≤0.8) or insignificant (invasive FFR >0.8).
METHODS AND RESULTS
Forty-three studies reporting on 7291 blood vessels from 5236 patients were included. A moderate positive linear relationship between FFR-CT and invasively measured FFR was observed (Spearman correlation coefficient: 0.67). Agreement between the 2 measures increased as invasively measured FFR values approached 1. The overall diagnostic accuracy, sensitivity and specificity of FFR-CT were 82.2%, 80.9%, and 83.1%, respectively. Diagnostic accuracy of 90% could be demonstrated for FFR-CT values >0.90 and <0.49. The diagnostic accuracy of off-site tools was 79.4% and the diagnostic accuracy of on-site tools was 84.1%.
CONCLUSIONS
The agreement between FFR-CT and invasive FFR is moderate although agreement is highest in vessels with FFR-CT >0.9. Diagnostic accuracy varies widely with FFR-CT value but is above 90% for FFR-CT values >0.90 and <0.49. Furthermore, on-site and off-site tools have similar performance. Ultimately, FFR-CT may be a useful adjunct to CT coronary angiography as a gatekeeper for invasive coronary angiogram.
Topics: Fractional Flow Reserve, Myocardial; Humans; Coronary Stenosis; Coronary Angiography; Computed Tomography Angiography; Predictive Value of Tests; Cardiac Catheterization; Reproducibility of Results; Coronary Artery Disease; Coronary Vessels; Severity of Illness Index; Tomography, X-Ray Computed
PubMed: 38726901
DOI: 10.1161/JAHA.124.034552 -
Abdominal Radiology (New York) May 2024This systematic review aims to elucidate the diagnostic capabilities of imaging techniques in identifying Non-Occlusive Hepatic Artery Hypoperfusion Syndrome (NOHAH) and... (Review)
Review
OBJECTIVE
This systematic review aims to elucidate the diagnostic capabilities of imaging techniques in identifying Non-Occlusive Hepatic Artery Hypoperfusion Syndrome (NOHAH) and to evaluate the efficacy and outcomes of splenic artery embolization (SAE), including the choice and placement of embolic agents.
MATERIALS AND METHODS
A comprehensive literature search was conducted using PubMed, CINAHL, and Scopus databases, adhering to PRISMA guidelines. Fifteen studies encompassing 240 patients treated with embolization (using coils or Amplatzer Vascular Plugs (AVP)) were analyzed. Key metrics assessed included patient demographics, embolization techniques, embolic agents, technical success, radiologic findings pre- and post-embolization, and complication rates.
RESULTS
Among the 240 patients studied, 177 (73.8%) were reported by gender, with a majority being male (127/177, 71.7%). Doppler ultrasonography (DUS) emerged as the primary initial screening tool in 80% of studies. The hepatic arterial resistive index (RI) was a critical parameter, with mean values significantly decreasing from 0.84 pre-embolization to 0.70 post-embolization (p < 0.001). All cases confirmed technical success via digital subtraction angiography, revealing delayed hepatic arterial filling without stenosis or thrombosis. Coils were the predominant embolic agent, used in 80.8% of patients, followed by AVP in 16.3%. The overall mortality rate was 4.58%, with 29 major and 3 minor complications noted. Notably, proximal placement of coils in the splenic artery was associated with lower mortality rates compared to distal placement and showed comparable complication rates to AVPs.
CONCLUSION
DUS is a reliable screening modality for NOHAH, with post-SAE assessments showing significant improvements. The choice and location of embolization significantly impact patient outcomes, with proximal placement of coils emerging as a preferable strategy due to lower mortality rates and comparable complication profiles to alternative methods.
PubMed: 38717616
DOI: 10.1007/s00261-024-04340-6 -
Annals of Clinical and Translational... Jun 2024Fabry disease is caused by enzymatic defects in alpha-galactosidase A that leads to the accumulation of glycosphingolipids throughout the body, resulting in a...
OBJECTIVE
Fabry disease is caused by enzymatic defects in alpha-galactosidase A that leads to the accumulation of glycosphingolipids throughout the body, resulting in a multisystemic disorder. The most common neurological manifestations are neuropathic pain, autonomic nervous system dysfunction and strokes, but some rarer neurological manifestations exist. Among these, aseptic meningitis is a possible complication. Our objectives were to measure the prevalence of this complication in a cohort of patients with Fabry disease, and to describe its clinical features.
METHODS
We conducted a retrospective review of Fabry disease patients followed at our tertiary referral center between 1995 and September 2023 with at least one episode of meningitis, and performed a systematic review to identify similar published cases.
RESULTS
Four patients out of 107 (3.7%) had at least one episode of aseptic meningitis. Our systematic review identified 25 other observations. The median age of these 29 patients was 29.0 years, the median cerebrospinal fluid leukocyte count was 24 cells/mm3 with a predominance of lymphocytes in 64.7% of cases. In 82.8% of the patients, the diagnosis of Fabry disease was unknown before the meningitis. Large artery stenosis was present in 17.2% of patients and 57.1% of patients had a recent stroke concomitant with the meningitis. Several differential diagnoses were evoked, such as multiple sclerosis or central nervous system vasculitis.
INTERPRETATION
Our study suggests that Fabry disease should be considered as a cause of aseptic meningitis. The pathophysiological mechanisms underlying meningeal inflammation remain largely unknown but may reflect the dysregulation of pro-inflammatory signaling pathways.
Topics: Humans; Fabry Disease; Meningitis, Aseptic; Adult; Male; Female; Retrospective Studies; Middle Aged; Young Adult; Adolescent; Aged; Child
PubMed: 38717582
DOI: 10.1002/acn3.52043 -
Head & Neck May 2024This systematic review aggregates the data of studies that include site-specific analyses of patients undergoing salvage surgery for residual or recurrent hypopharyngeal...
BACKGROUND
This systematic review aggregates the data of studies that include site-specific analyses of patients undergoing salvage surgery for residual or recurrent hypopharyngeal squamous cell carcinoma.
METHODS
The primary outcomes are disease-free, disease-specific, and overall survival (DFS, DSS, and OS, respectively). Secondary outcomes include complications and postoperative feeding requirements.
RESULTS
Fifteen studies met the inclusion criteria with a total of 442 patients. Two-year DFS is reported from 30.0 to 50.0% and 5-year DFS ranges from 15.0 to 57.1%. Five-year DSS ranges from 28.0 to 57.1%. Two-year OS ranges from 38.8 to 52.0% and 5-year OS ranges from 15.5 to 57.1%. Complications include pharyngocutaneous fistula (0.0-71.4%), carotid artery rupture (2.9-13.3%), and stomal stenosis (4.2-20.0%). Complete oral feeding achieved following surgery ranges from 61.9 to 100.0%, while complete gastrostomy tube dependence ranges from 0.0 to 28.6%.
CONCLUSIONS
Salvage surgery for residual or recurrent hypopharyngeal squamous cell carcinoma has a relatively high complication rate and should be offered to patients with the understanding of a guarded prognosis.
PubMed: 38716810
DOI: 10.1002/hed.27794 -
International Journal of Cardiology Aug 2024Stroke is a feared complication of transcatheter aortic valve replacement (TAVR). Patients undergoing TAVR typically have multiple comorbidities, such as carotid artery... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Stroke is a feared complication of transcatheter aortic valve replacement (TAVR). Patients undergoing TAVR typically have multiple comorbidities, such as carotid artery stenosis (CAS). We conducted the present meta-analysis to determine the risk of stroke and mortality following TAVR in patients with CAS.
METHODS
We searched PubMed/Medline, Scopus, ScienceDirect, and Cochrane Clinical Trials databases for clinical studies that compared CAS ≥50% and CAS ≥70% versus non-CAS TAVR population. The endpoints included the 30-day incidence of stroke or transient ischemic attack (TIA) and 30-day all-cause of mortality.
RESULTS
We identified seven studies that included 12,418 patients in the CAS group and 102,316 in the control group. CAS ≥50% was not associated with an increased risk of 30-day stroke or TIA after TAVR [risk ratio (RR): 1.38; 95% confidence interval (95% CI): 0.95-2.02; p = 0.09]. However, patients with CAS ≥70% had an increased risk of stroke or TIA (RR: 1.43; 95% CI: 1.02-2.01; p = 0.04). No difference in 30-day all-cause mortality was observed between CAS ≥50% or CAS ≥70% and control groups (RR: 1.09; 95% CI: 0.79-1.52; p = 0.59 and RR: 1.11; 95% CI: 0.85-1.45; p = 0.43, respectively).
CONCLUSIONS
CAS ≥70% was associated with an increased risk of stroke or TIA following TAVR compared with patients without CAS.
Topics: Humans; Transcatheter Aortic Valve Replacement; Stroke; Carotid Stenosis; Aortic Valve Stenosis; Risk Factors; Postoperative Complications
PubMed: 38702030
DOI: 10.1016/j.ijcard.2024.132085