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Genes Jun 2024The ring finger protein 213 gene (RNF213) is involved in several vascular diseases, both intracranial and systemic ones. Some variants are common in the Asian population...
The ring finger protein 213 gene (RNF213) is involved in several vascular diseases, both intracranial and systemic ones. Some variants are common in the Asian population and are reported as a risk factor for moyamoya disease, intracranial stenosis and intracranial aneurysms. Among intracranial vascular diseases, both moyamoya disease and intracranial artery dissection are more prevalent in the Asian population. We performed a systematic review of the literature, aiming to assess the rate of RNF213 variants in patients with spontaneous intracranial dissections. Four papers were identified, providing data on 53 patients with intracranial artery dissection. The rate of RNF213 variants is 10/53 (18.9%) and it increases to 10/29 (34.5%), excluding patients with vertebral artery dissection. All patients had the RNF213 p.Arg4810Lys variant. RNF213 variants seems to be involved in intracranial dissections in Asian cohorts. The small number of patients, the inclusion of only patients of Asian descent and the small but non-negligible coexistence with moyamoya disease familiarity might be limiting factors, requiring further studies to confirm these preliminary findings and the embryological interpretation.
Topics: Humans; Adenosine Triphosphatases; Aortic Dissection; Asian People; Genetic Predisposition to Disease; Intracranial Aneurysm; Moyamoya Disease; Polymorphism, Single Nucleotide; Ubiquitin-Protein Ligases
PubMed: 38927660
DOI: 10.3390/genes15060725 -
Movement Disorders Clinical Practice Jun 2024As the diagnosis of Parkinson's disease (PD) is fundamentally clinical, the usefulness of ioflupane (I) single-photon emission computed tomography (SPECT) or DaTSCAN as... (Review)
Review
BACKGROUND
As the diagnosis of Parkinson's disease (PD) is fundamentally clinical, the usefulness of ioflupane (I) single-photon emission computed tomography (SPECT) or DaTSCAN as a diagnostic tool has been a matter of debate for years. The performance of DaTSCAN is generally recommended in the follow-up of patients with a clinically uncertain diagnosis, especially in those with a suspected essential tremor, drug-induced parkinsonism, or vascular parkinsonism. However, there is a dearth of DaTSCAN findings regarding neurodegenerative parkinsonisms besides PD and atypical parkinsonisms. To date, a specific nigrostriatal dopamine uptake pattern that would help differentiate PD from the most frequent atypical parkinsonisms is yet to be described. This fact is further complicated by the possible visualization of abnormalities in the uptake pattern in patients with rarer neurodegenerative parkinsonisms.
OBJECTIVES
We aimed to summarize the current literature regarding DaTSCAN findings in patients with rare neurodegenerative parkinsonisms.
METHODS
The PubMed database was systematically screened for studies in English or Spanish up to October 15, 2023, using search terms "DaTSCAN", "ioflupane", "DaT-SPECT", "123I-FP-CIT SPECT", "dopamine transporter imaging", and "[123I] FP-CIT SPECT". Duplicated publications and studies regarding PD, atypical parkinsonisms, dystonia-parkinsonism, essential tremor, and parkinsonism due to non-degenerative causes were excluded.
RESULTS
The obtained results were reviewed and summarized, including DaTSCAN findings in fragile X-associated tremor/ataxia syndrome, prion diseases, Huntington's disease, spinocerebellar ataxia, hereditary spastic paraparesis, metabolic disorders, and other diseases (anti-IgLON5 disease, ring chromosome 20 syndrome, chorea-acanthocytosis, and neuronal ceroid lipofuscinosis).
CONCLUSIONS
This review highlights the need to determine in the future the utility and cost-effectiveness of DaTSCAN, both as a diagnostic and a prognostic tool, in patients with parkinsonian symptoms in rare neurodegenerative diseases.
Topics: Humans; Tomography, Emission-Computed, Single-Photon; Parkinsonian Disorders; Tropanes; Parkinson Disease
PubMed: 38693679
DOI: 10.1002/mdc3.14055 -
JACC. Cardiovascular Imaging Dec 2023The clinical value of high-risk coronary plaque characteristics (CPCs) to inform intensified medical therapy or revascularization of non-flow-limiting lesions remains... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The clinical value of high-risk coronary plaque characteristics (CPCs) to inform intensified medical therapy or revascularization of non-flow-limiting lesions remains uncertain.
OBJECTIVES
The authors performed a systematic review and meta-analysis to study the prognostic impact of CPCs on patient-level and lesion-level major cardiovascular adverse events (MACE).
METHODS
Thirty studies (21 retrospective, 9 prospective) with 30,369 patients evaluating the association of CPCs with MACE were included. CPCs included high plaque burden, low minimal lumen area, thin cap fibroatheroma, high lipid core burden index, low-attenuation plaque, spotty calcification, napkin ring sign, and positive remodeling.
RESULTS
CPCs were evaluated with the use of intracoronary modalities in 9 studies (optical coherence tomography in 4 studies, intravascular ultrasound imaging in 3 studies, and near-infrared spectroscopy intravascular ultrasound imaging in 2 studies) and by means of coronary computed tomographic angiography in 21 studies. CPCs significantly predicted patient-level and lesion-level MACE in both unadjusted and adjusted analyses. For most CPCs, accuracy for MACE was modest to good at the patient level and moderate to good at the lesion level. Plaques with more than 1 CPC had the highest accuracy for lesion-level MACE (AUC: 0.87). Because the prevalence of CPCs among plaques was low, estimated positive predictive values for lesion-level MACE were modest. Results were mostly consistent across imaging modalities and clinical presentations, and in studies with prevailing hard outcomes.
CONCLUSIONS
Characterization of CPCs identifies high-risk atherosclerotic plaques that place lesions and patients at risk for future MACE, albeit with modest sensitivity and positive predictive value (Coronary Plaque Characteristics Associated With Major Adverse Cardiovascular Events Among Atherosclerotic Patients and Lesions; CRD42021251810).
Topics: Humans; Plaque, Atherosclerotic; Coronary Artery Disease; Coronary Angiography; Retrospective Studies; Prospective Studies; Coronary Vessels; Predictive Value of Tests; Ultrasonography, Interventional
PubMed: 37804276
DOI: 10.1016/j.jcmg.2023.08.006 -
Clinical Neurology and Neurosurgery Aug 2023We performed this study to explore the relationship between ring finger protein 213 (RNF213) gene polymorphisms and clinical features in moyamoya disease (MMD). (Meta-Analysis)
Meta-Analysis
BACKGROUND
We performed this study to explore the relationship between ring finger protein 213 (RNF213) gene polymorphisms and clinical features in moyamoya disease (MMD).
METHODS
Electronic databases (PubMed, Google Scholar, Embase, Scopus, Cochrane Library) were conducted from inception to May 15th, 2022. Odds ratios (ORs) with 95 % confidence intervals (CIs) were generated as effect size for binary variants. Subgroup analyses were performed by the RNF213 polymorphisms. Sensitivity was used to examine the robustness of associations.
RESULTS
A total of 16 articles and 3061 MMD patients were included and the association of five RNF213 polymorphisms on 9 clinical features of MMD were identified. Patients under 18 years of age at onset, familial MMD, cerebral ischemic stroke and posterior cerebral artery involvement (PCi) were significantly more common in mutant type compared with wild type of RNF213. Compared with each wild type, subgroup analysis showed that rs11273543 and rs9916351 remarkably increased risk of MMD on early onset, but rs371441113 evidently delayed the onset of MMD. Rs112735431 in mutant type was significantly higher than wild type in patients with PCi. Subgroup analysis in mutant type showed that rs112735431 conspicuously decreased intracerebral/ intraventricular hemorrhage (ICH/IVH) risk and yet rs148731719 obviously increased the risk in ICH/IVH.
CONCLUSION
More attention should be paid to patients on whom the ischemic MMD occurs younger than 18 years old. RNF213 polymorphism screening and cerebrovascular imaging examination should be performed to evaluate intracranial vascular involvement, to achieve early detection and early treatment and avoid more serious cerebrovascular events.
Topics: Adolescent; Humans; Adenosine Triphosphatases; Cerebral Hemorrhage; Genetic Predisposition to Disease; Moyamoya Disease; Polymorphism, Single Nucleotide; Stroke; Transcription Factors; Ubiquitin-Protein Ligases
PubMed: 37267801
DOI: 10.1016/j.clineuro.2023.107801 -
Journal of Neurovirology Aug 2023Varicella-zoster virus (VZV) infection may cause vascular inflammatory changes leading to an increased risk of stroke. Previous studies have focused on the risk of... (Meta-Analysis)
Meta-Analysis
Varicella-zoster virus (VZV) infection may cause vascular inflammatory changes leading to an increased risk of stroke. Previous studies have focused on the risk of stroke and less on changes in stroke risk and prognosis. We aimed to explore the changing patterns of stroke risk and stroke prognosis after VZV infection. This study is a systematic review and meta-analysis. We searched PubMed, Embase, and the Cochrane Library for studies on stroke after VZV infection between January 1, 2000, and October 5, 2022. Relative risks were combined for the same study subgroups using a fixed-effects model and pooled across studies using a random-effects model. 27 studies met the requirements, including 17 herpes zoster (HZ) studies and ten chickenpox studies. There was an increased risk of stroke after HZ, and this risk decreased over time: relative risk 1.80 (95% CI 1.42-2.29) within 14 days, 1.61 (95% CI 1.43-1.81) within 30 days, 1.45 (95% CI 1.33-1.58) within 90 days, 1.32 (95% CI 1.25-1.39) within 180 days, 1.27 (95% CI 1.15-1.40) at one year and 1.19 (95% CI 0.90-1.59) after one year, with the same trend in the stroke subtype. The risk of stroke after herpes zoster ophthalmicus was higher, with a maximum relative risk of 2.26 (95% CI 1.35-3.78). The risk of stroke after HZ was higher in patients aged around 40 years: relative risk 2.53 (95% CI 1.59-4.02), and similar in men and women. Also, after pooling studies of post-chickenpox stroke, we found that the middle cerebral artery and its branches were most frequently involved (78.2%), with a better prognosis in most patients (83.1%) and less frequent vascular persistence progression (8.9%). In conclusion, the risk of stroke increases after VZV infection, decreasing over time. Post-infection vascular inflammatory changes often occur in the middle cerebral artery and its branches, with a better prognosis in most patients and less frequent persistent progression.
Topics: Male; Humans; Female; Aged; Herpesvirus 3, Human; Chickenpox; Herpes Zoster; Stroke; Risk; Inflammation
PubMed: 37219811
DOI: 10.1007/s13365-023-01144-0 -
Journal of Pediatric Surgery Sep 2023Vascular rings may cause tracheal and/or oesophageal compression. For many patients, symptoms/signs have been present for a long period before diagnosis. However, in the... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Vascular rings may cause tracheal and/or oesophageal compression. For many patients, symptoms/signs have been present for a long period before diagnosis. However, in the era of prenatal diagnosis, some units advocate universal early surgery. The risks and efficacy of surgery must be known to adequately counsel for the operation. This meta-analysis sought to define the morbidity and mortality associated with surgical correction, and persistent post-operative symptoms.
METHODS
PubMed, Cochrane Library and CINAHL databases were searched for studies that described the outcome of patients undergoing surgery for a double or right aortic arch (DAA or RAA). Non-comparative and random effects model-based meta-analyses were conducted to calculate the pooled rates of mortality, surgical complications, reintervention, and persistent follow-up symptoms.
RESULTS
Nineteen eligible studies were included comprising 18 studies describing outcomes for DAA surgery and 15 for RAA surgery. For DAA surgery, overall mortality rate was 0% [95% confidence interval (CI) 0.0-1.0], post-surgical complication rate 18% [95% CI: 12.0-23.0], prevalence of reintervention 3% [95% CI: 1.0-5.0] and prevalence of symptoms at last follow-up was 33% [95% CI: 17.0-52.0]. For RAA surgery, overall pooled mortality was 0% [95% CI: 0.0-0.0], prevalence of post-surgical complications was 15% [95% CI: 8.0-23.0], reintervention rate was 2% [95% CI: 0.0-4.0], prevalence of symptoms at last follow-up was 40% [95% CI: 26.0-55.0].
CONCLUSIONS
While surgery to correct a vascular ring is safe, the rate of persistent symptoms is high and further strategies must be sought to reduce this burden.
Topics: Pregnancy; Female; Humans; Vascular Ring; Aorta, Thoracic; Prenatal Diagnosis; Trachea; Subclavian Artery
PubMed: 36967253
DOI: 10.1016/j.jpedsurg.2023.02.058 -
Current Problems in Cardiology Jul 2023Transcatheter mitral valve replacement has become a useful alternative for patients with failed mitral prosthesis or annuloplasty rings who are deemed high risk for redo... (Meta-Analysis)
Meta-Analysis Review
Transcatheter mitral valve replacement has become a useful alternative for patients with failed mitral prosthesis or annuloplasty rings who are deemed high risk for redo surgery. We aimed to compare the clinical outcomes following transseptal (TS) and transapical (TA) approaches in transcatheter mitral valve-in-valve and valve-in-ring implantation (TMViV/R). Electronic databases PubMed, MEDLINE, and Embase were searched through November 2022. Both clinical trials and observational studies comparing patients undergoing TS and TA TMViV/R were eligible for inclusion. Primary outcomes were 30-day and 1-year mortality. Postoperative stroke, left ventricle outlet tract (LVOT) obstruction, mitral valve pressure gradient (MVPG), bleeding, and length of hospital stay were also evaluated. Seven observational studies were included comparing patients undergoing TS (n = 1875) and TA (n = 1120) TMViV/R. The TS group had significantly lower 30-day mortality (OR: 0.66; 95% confidence interval [CI] [0.47, 0.94]; P = 0.02, I² = 0%) and lower one-year mortality risk group (HR: 0.79; 95% CI [0.63, 0.99]; P = 0.04, I² = 0%) compared to the TA group. The TS group had consistent shorter in-hospital stay (MD = -3.79; 95% CI [-5.23, -2.34] days; P < 0.0001, I² = 75%). Postoperative stroke, bleeding and LVOT obstruction tended to be lower in the TS but the results did not reach statistical significance. Postoperative MVPG was similar between both groups. The TS approach has lower early mortality, lower 1-year death hazard, shorter in-hospital stay, and a trend toward lower complication rates when compared to TA TMViV/R. Further controlled trials may support the evidence and provide long-term outcomes.
Topics: Humans; Mitral Valve; Heart Valve Prosthesis Implantation; Treatment Outcome; Cardiac Catheterization; Mitral Valve Insufficiency; Heart Valve Prosthesis; Stroke
PubMed: 36921647
DOI: 10.1016/j.cpcardiol.2023.101684 -
Hand (New York, N.Y.) Feb 2023The medial femoral trochlea flap has been used to resurface scaphoids with recalcitrant proximal pole fractures or avascular necrosis, providing vascularized...
BACKGROUND
The medial femoral trochlea flap has been used to resurface scaphoids with recalcitrant proximal pole fractures or avascular necrosis, providing vascularized osteochondral tissue with similar morphological characteristics. This article aims to review the contemporary literature on its use for scaphoid reconstruction.
METHODS
A systematic review of Embase, PubMed, Cochrane Central Register of Controlled Trials, and MEDLINE assessed the use of medial femoral trochlea flaps in scaphoids.
RESULTS
Eight studies were included, with 76 patients at a mean age of 26 years. Forty-three patients underwent clinical review, and 10 patients underwent radiographic evaluation, at a mean 23.3 months of follow-up. Flaps were generally performed for proximal pole fractures, avascular necrosis, nonunion, or failure of prior fixation; 94.4% of the flaps united. No marked change in sagittal plane motion was noted; reductions were seen in axial and coronal plane motion. The Disabilities of the Arm, Shoulder, and Hand scores improved from a mean of 25.2 to 11.5. Radiographic markers also improved. A total of 12.3% of patients had unplanned return to theater. Three patients required early revision for vascular thrombosis, and 1 patient suffered a volar carpal dislocation. Three patients underwent salvage procedures for ongoing pain.
CONCLUSIONS
Although technically demanding, promising early-term to medium-term results are noted with the use of medial femoral trochlea flaps in the scaphoid.
PubMed: 36779491
DOI: 10.1177/15589447231151430 -
Frontiers in Cardiovascular Medicine 2022Transcatheter mitral valve replacement (TMVR) has emerged as an alternative to redo surgery. TMVR compared with redo surgical mitral valve replacement (SMVR) in patients...
BACKGROUND
Transcatheter mitral valve replacement (TMVR) has emerged as an alternative to redo surgery. TMVR compared with redo surgical mitral valve replacement (SMVR) in patients with mitral prosthesis failure remains limited. In this study, we performed a meta-analysis to assess the outcomes of TMVR (including valve-in-valve and valve-in-ring) versus redo surgery for mitral prosthesis failure.
METHODS
We comprehensively searched the PubMed, Embase, and Cochrane library databases according to predetermined inclusion and exclusion criteria, and then we extracted data. We compared the outcomes of TMVR and redo SMVR for mitral prosthesis failure in terms of the in-hospital mortality, stroke, renal dysfunction, vascular complication, pacemaker implantation, exploration for bleeding, paravalvular leak, mean mitral valve gradient, 30-day mortality, and 1-year mortality.
RESULTS
Nine retrospective cohort studies and a total of 3,038 patients were included in this analysis. Compared with redo SMVR for mitral prosthesis failure, TMVR was associated with lower in-hospital mortality [odds ratios (OR): 0.44; 95% confidence interval (CI): 0.30-0.64; < 0.001], stroke (OR: 0.44; 95% CI: 0.29-0.67; = 0.0001), renal dysfunction (OR: 0.52; 95% CI: 0.37-0.75; = 0.0003), vascular complication (OR: 0.58; 95% CI: 0.43-0.78; = 0.004), pacemaker implantation (OR: 0.23; 95% CI: 0.15-0.36; < 0.00001), and exploration for bleeding (OR: 0.24; 95% CI: 0.06-0.96; = 0.04). Conversely, redo SMVR had lower paravalvular leak (OR: 22.12; 95% CI: 2.81-174.16; = 0.003). There was no difference in mean mitral valve gradient (MD: 0.04; 95% CI: -0.47 to 0.55; = 0.87), 30-day mortality (OR: 0.65; 95% CI: 0.36-1.17; = 0.15), and 1-year mortality (OR: 0.96; 95% CI: 0.63-1.45; = 0.84).
CONCLUSION
In patients with mitral prosthesis failure, TMVR is associated with lower in-hospital mortality and lower occurrence of postoperative complications, except for paravalvular leak. TMVR offers a viable alternative to the conventional redo surgery in selected patients.
PubMed: 36741847
DOI: 10.3389/fcvm.2022.1058576 -
Annals of Hepatology 2023Large primary hepatocellular carcinoma (HCC) has a high mortality rate and a variety of treatments. Surgery and transcatheter arterial chemoembolization (TACE) are... (Meta-Analysis)
Meta-Analysis
INTRODUCTION AND OBJECTIVES
Large primary hepatocellular carcinoma (HCC) has a high mortality rate and a variety of treatments. Surgery and transcatheter arterial chemoembolization (TACE) are important treatments. Which could be better remain debatable. The objective of the study is to compare the long-term overall survival of surgical resection (SR) and the use of TACE in patients with large hepatocellular carcinoma.
MATERIALS AND METHODS
We assessed clinical trials through PubMed, Medline, Embase, and the Cochrane Library up to March 2022. Two researchers independently screened articles, extracted data, and assessed the study quality according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses)guidelines. The primary outcome was overall survival (OS). The secondary outcomes were OS after propensity scores matching (PSM) and progression-free survival (PFS).
RESULTS
A total of 14 studies, including 3609 patients, were enrolled in the meta-analysis. The meta-analysis indicated a significant improvement in the 1-year OS, 3-year OS, and 5-year OS favoring SR over TACE (OR = 2.19, 95% CI 1,60-3.00; OR = 3.47, 95% CI 2.47-4.88; OR = 2.72, 95% CI 2.03-3.64, p < 0.001, random model). The results were consistent across subgroups of tumor size and tumor numbers (p > 0.05). The pooled outcome indicated that 1-year OS, 3-year OS, and 5-year OS after PSM were higher in the SR group than in the TACE group (p < 0.001).
CONCLUSIONS
This meta-analysis indicates that among patients with large primary hepatocellular carcinoma, the overall survival rate of patients undergoing surgical resection was higher than that of patients undergoing TACE.
Topics: Humans; Carcinoma, Hepatocellular; Liver Neoplasms; Chemoembolization, Therapeutic; Progression-Free Survival; Hepatectomy
PubMed: 36574929
DOI: 10.1016/j.aohep.2022.100890