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World Neurosurgery Aug 2021The effect of genetic factors on presentation and outcomes of moyamoya disease (MMD) is unclear. We aimed to examine differences in presentation of MMD by genetic...
BACKGROUND
The effect of genetic factors on presentation and outcomes of moyamoya disease (MMD) is unclear. We aimed to examine differences in presentation of MMD by genetic variant, delineate the influence of genetic factors on outcomes, and characterize the applicability of genetic testing to management.
METHODS
A systematic review was conducted using the PubMed, Embase, and Scopus databases. Title/abstract screening, full-text screening, and data extraction were conducted.
RESULTS
Of 1329 articles, 12 were included. Genes included RNF213 (ring finger protein 213), VEGF (vascular endothelial growth factor), and soluble VEGR receptor (sVEGFR) 1 and 2. Patients heterozygous and homozygous for the p.R1480K variant of RNF213 had younger age of onset; were more frequently familial, had posterior cerebral artery involvement, had bilateral lesions; and were more likely to present with cerebral infarction or transient ischemic attack. The heterozygous p.4810K variant is associated with improved postoperative collateral formation. Stroke recurrence, stroke-free survival, neurologic status, and functional condition after surgery are not associated with the p.4180K genotype. Patients homozygous for p.4180K more frequently experience long-term cognitive impairment. Patients with the C/C genotype of VEGF 2634 or decreased sVEGFR-1 and sVEGFR levels postoperatively had greater postoperative collateral formation.
CONCLUSIONS
Genetic factors correlate with MMD presentation including age of onset, severity, and symptoms, and angiographic and clinical outcomes after surgery. Incorporation of genetic testing panels into practice may allow for risk stratification, management, and follow-up of children and adults with MMD. However, future studies are necessary to validate the usefulness of genetic testing for MMD before this situation occurs.
Topics: Genetic Testing; Humans; Moyamoya Disease
PubMed: 34098142
DOI: 10.1016/j.wneu.2021.05.130 -
Journal of the American Heart... Mar 2021Bioprosthetic mitral structural valve degeneration and failed mitral valve repair (MVr) have traditionally been treated with reoperative mitral valve surgery....
Bioprosthetic mitral structural valve degeneration and failed mitral valve repair (MVr) have traditionally been treated with reoperative mitral valve surgery. Transcatheter mitral valve-in-valve (MVIV) and valve-in-ring (MVIR) replacement are now feasible, but data comparing these approaches are lacking. We sought to compare the outcomes of (1) reoperative mitral valve replacement (redo-MVR) and MVIV for structural valve degeneration, and (2) reoperative mitral valve repair (redo-MVr) or MVR and MVIR for failed MVr. A literature search of PubMed, Embase, and the Cochrane Library was conducted up to July 31, 2020. Thirty-two studies involving 25 832 patients were included. Redo-MVR was required in ≈35% of patients after index surgery at 10 years, with 5% to 15% 30-day mortality. MVIV resulted in >95% procedural success with 30-day and 1-year mortality of 0% to 8% and 11% to 16%, respectively. Recognized complications included left ventricular outflow tract obstruction (0%-6%), valve migration (0%-9%), and residual regurgitation (0%-6%). Comparisons of redo-MVR and MVIV showed no statistically significant differences in mortality (11.3% versus 11.9% at 1 year, =0.92), albeit higher rates of major bleeding and arrhythmias with redo-MVR. MVIR resulted in 0% to 34% mortality at 1 year, whereas both redo-MVr and MVR for failed repairs were performed with minimal mortality and durable long-term results. MVIV is therefore a viable alternative to redo-MVR for structural valve degeneration, whereas redo-MVr or redo-MVR is preferred for failed MVr given the suboptimal results with MVIR. However, not all patients will be candidates for MVIV/MVIR because anatomical restrictions may preclude transcatheter options from adequately addressing the underlying pathology.
Topics: Cardiac Catheterization; Heart Valve Diseases; Heart Valve Prosthesis; Heart Valve Prosthesis Implantation; Humans; Mitral Valve; Reoperation
PubMed: 33686870
DOI: 10.1161/JAHA.120.019854 -
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 -
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 -
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