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Clinical outcomes of the type II hybrid procedure for the repair of extensive aortic arch pathology.Journal of Thoracic Disease May 2024Type II hybrid arch repair (HAR) has been used for the repair of extensive aortic arch pathology. The aim of this study was to retrospectively analyze single-stage...
BACKGROUND
Type II hybrid arch repair (HAR) has been used for the repair of extensive aortic arch pathology. The aim of this study was to retrospectively analyze single-stage hybrid treatment involving replacement of the ascending aorta, arch debranching, and zone 0 stent graft deployment.
METHODS
We retrospectively analyzed clinical data from 41 patients with acute and chronic aortic disease who underwent a type II hybrid arch procedure at Beijing Anzhen Hospital and Beijing Chaoyang Hospital from January 2020 to August 2022. The femoral arteries and right axillary arteries were used as cannulation sites to decrease the risk of malperfusion. During surgery, the nasopharyngeal temperature was lowered to 30 ℃. Demographic, perioperative, and late results data were retrieved and analyzed.
RESULTS
The mean age of the patients was 54.9±11.1 years, and 31 patients (75.6%) were men. In all cases, zone 0 stent graft deployment was successful, with no in-hospital mortality. The median follow-up time was 10.5 [interquartile range (IQR), 4.8-17.6] months, and the survival rate was 94.9% during follow-up. Complications included cerebral infarction (3 patients, 7.3%) and renal failure requiring dialysis (3 patients, 7.3%). There were no occurrences of paraplegia, and no stent-related complications occurred during the follow-up period.
CONCLUSIONS
The single-stage hybrid arch procedure achieved satisfactory early results and represents a less invasive approach for treating complex diffuse aortic disease that affects the arch. This strategy is an important technical advance in the treatment of high-risk patients with extensive aortic arch pathology.
PubMed: 38883664
DOI: 10.21037/jtd-24-586 -
ENeurologicalSci Jun 2024Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower...
Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A>C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.
PubMed: 38883204
DOI: 10.1016/j.ensci.2024.100506 -
Cureus Jun 2024Thyroid dysfunction is a well-known cause of cerebral venous sinus thrombosis (CVST), but most reports have focused on CVST associated with hyperthyroidism, with only a...
Thyroid dysfunction is a well-known cause of cerebral venous sinus thrombosis (CVST), but most reports have focused on CVST associated with hyperthyroidism, with only a few mentioning CVST associated with hypothyroidism. Subclinical hypothyroidism, characterized by thyroid hormone levels within reference values but elevated thyroid-stimulating hormone, can also cause CVST. Here, we present a case of CVST associated with subclinical hypothyroidism. A 48-year-old man with headache, nausea, and left-sided motor weakness was admitted to our hospital, with a history of economy-class syndrome. Magnetic resonance imaging revealed occlusion of the superior sagittal sinus, right transverse sinus, and right sigmoid sinus. Digital subtraction angiography (DSA) confirmed CVST from the right common carotid artery, revealing abnormal staining of the thyroid gland. The patient was serologically in a state of subclinical hypothyroidism. Consequently, the patient was diagnosed with CVST associated with subclinical hypothyroidism. Anticoagulation therapy was initiated shortly after admission. CVST gradually resolved, and the affected sinuses were recanalized. Paraplegia improved, and the patient was discharged home 19 days after admission with a modified Rankin scale of 1. Subclinical hypothyroidism can induce CVST, underscoring the importance of screening for thyroid function in CVST patients, even without apparent thyroid dysfunction symptoms. DSA findings are valuable for diagnosing thyroid disease.
PubMed: 38882222
DOI: 10.7759/cureus.62333 -
Genes & Diseases Sep 2024
PubMed: 38882014
DOI: 10.1016/j.gendis.2023.101152 -
Neurobiology of Disease Jun 2024Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive...
Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knockout mouse that neurodegeneration is associated with accumulation of gangliosides in lysosomes. To test whether a substrate reduction therapy could be a therapeutic option, we downregulated the key enzyme involved in ganglioside biosynthesis using an AAV-PHP.eB viral vector expressing a miRNA targeting St3gal5. Downregulation of St3gal5 in Spg11 knockout mice prevented the accumulation of gangliosides, delayed the onset of motor and cognitive symptoms, and prevented the upregulation of serum levels of neurofilament light chain, a biomarker widely used in neurodegenerative diseases. Importantly, similar results were observed when Spg11 knockout mice were administrated venglustat, a pharmacological inhibitor of glucosylceramide synthase expected to decrease ganglioside synthesis. Downregulation of St3gal5 or venglustat administration in Spg11 knockout mice strongly decreased the formation of axonal spheroids, previously associated with impaired trafficking. Venglustat had similar effect on cultured human SPG11 neurons. In conclusion, this work identifies the first disease-modifying therapeutic strategy in SPG11, and provides data supporting its relevance for therapeutic testing in SPG11 patients.
PubMed: 38876323
DOI: 10.1016/j.nbd.2024.106564 -
Frontiers in Cardiovascular Medicine 2024The left subclavian artery (LSA) can be intentionally covered by a stent graft to acquire adequate landing zones for a proximal entry tear near the LSA during thoracic...
BACKGROUND
The left subclavian artery (LSA) can be intentionally covered by a stent graft to acquire adequate landing zones for a proximal entry tear near the LSA during thoracic endovascular aortic repair (TEVAR). The Castor single-branched stent graft is designed to treat type B aortic dissection (TBAD) to retain the LSA during TEVAR. This study investigates clinical outcomes, aortic remodeling, and abdominal aortic perfusion patterns after TEVAR with the novel Castor device.
METHODS
From November 2020 to June 2023, 29 patients with TBAD involving the LSA were treated with the Castor single-branched stent graft. In-hospital clinical outcome and aortic computed tomography angiography (CTA) data were analyzed. CTA was performed preoperatively and at follow-up to observe stent morphology; branch patency; endoleak; change in true lumen (TL), false lumen (FL), and transaortic diameters; and abdominal aortic branch perfusion pattern.
RESULTS
The technical success rate was 96.6%. One failure was that the branch section did not completely enter the LSA and the main body migrated distally. No in-hospital mortality, paraplegia, or stroke occurred. During follow-up, one type Ib endoleak, four distal new entry tears, and one recurrent type A dissection arose from a new entry tear at the ascending aorta, no stent migration was observed, and the branch patency rate was 100%. At the thoracic aorta, TL diameters significantly increased, FL diameters markedly decreased, and FL was partially or completely thrombosed in most patients at follow-up. At the abdominal aorta, we observed 33.3% of TL growth and 66.7% of TL stabilization or shrinkage. The initial TL ratio at iliac bifurcation negatively predicted abdominal TL growth after TEVAR with a cutoff of 21.0%. Of the 102 abdominal aortic branches, 94.1% of the branches showed no change in perfusion pattern, 3.9% of the branches had an increased TL perfusion, and 2.0% of the branches had an increased FL contribution.
CONCLUSION
The Castor unibody single-branched stent graft offers an efficient endovascular treatment for TBAD involving the LSA. TEVAR with the Castor device effectively induced thoracic FL thrombosis and thoracic TL enlargement and resulted in abdominal TL growth when the initial TL ratio at iliac bifurcation is less than 21.0%. Abdominal aortic branch perfusion patterns remain relatively stable after TEVAR with the Castor stent graft.
PubMed: 38873267
DOI: 10.3389/fcvm.2024.1370908 -
JMIR Research Protocols Jun 2024Spinal cord injury (SCI) is a devastating condition that often leads to significant impairments in physical function, leading to disability and mental health disorders....
BACKGROUND
Spinal cord injury (SCI) is a devastating condition that often leads to significant impairments in physical function, leading to disability and mental health disorders. Hence, understanding the prevalence of SCI and the relationship between physical activity and mental health in individuals with SCI is crucial for informing rehabilitation strategies and optimizing outcomes.
OBJECTIVE
This study aims to comprehensively analyze existing research on the link between physical activity and mental health and identify the level of physical activity and mental health status, the barriers to physical activity, and SCI's impacts on psychological well-being in individuals with SCI.
METHODS
An electronic search strategy will be used to identify prevalence studies published since 1993 in health-related databases such as PubMed, MEDLINE, COCHRANE Library, and Wiley Library using the following query: "Spinal Cord Injury" OR "Paraplegia" OR "Tetraplegia" AND "Physical Activity" OR "Exercise" AND "Mental Health" OR "Mental Illness" OR "Mental Disorder." Bibliographies of primary studies and review articles meeting the inclusion criteria will be searched manually to identify further eligible studies. The risk of bias in the included studies will be appraised using the Joanna Briggs Institute checklist for prevalence studies by 2 review authors. Any disagreement will be resolved by reaching a consensus.
RESULTS
Funding was received in October 2023, data collection will commence in July 2024, and the results are expected by 2025. We will summarize the selection of the eligible studies using a flowchart. The data from the studies will be extracted and tabulated. This scoping review will be published in a peer-reviewed journal in accordance with PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines.
CONCLUSIONS
This scoping review underscores the complex relationship between physical activity and mental health among individuals with SCI, highlighting the level of physical activity and mental health status, barriers to physical activity engagement, and psychological implications. Understanding these dynamics is crucial in devising tailored interventions aimed at enhancing mental well-being. This synthesis of evidence emphasizes the need for personalized strategies to promote physical activity, addressing unique challenges faced by this population to foster improved mental health outcomes and overall quality of life.
TRIAL REGISTRATION
Open Science Framework osf.io/ugx7d; https://osf.io/ugx7d/.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID)
PRR1-10.2196/56081.
Topics: Humans; Exercise; Mental Health; Spinal Cord Injuries; Systematic Reviews as Topic
PubMed: 38865699
DOI: 10.2196/56081 -
Anales de Pediatria Jun 2024
PubMed: 38853057
DOI: 10.1016/j.anpede.2024.06.004 -
Neurobiology of Disease Jun 2024Mutation of the ATL1 gene is one of the most common causes of hereditary spastic paraplegia (HSP), a group of genetic neurodegenerative conditions characterised by...
Mutation of the ATL1 gene is one of the most common causes of hereditary spastic paraplegia (HSP), a group of genetic neurodegenerative conditions characterised by distal axonal degeneration of the corticospinal tract axons. Atlastin-1, the protein encoded by ATL1, is one of three mammalian atlastins, which are homologous dynamin-like GTPases that control endoplasmic reticulum (ER) morphology by fusing tubules to form the three-way junctions that characterise ER networks. However, it is not clear whether atlastin-1 is required for correct ER morphology in human neurons and if so what the functional consequences of lack of atlastin-1 are. Using CRISPR-inhibition we generated human cortical neurons lacking atlastin-1. We demonstrate that ER morphology was altered in these neurons, with a reduced number of three-way junctions. Neurons lacking atlastin-1 had longer endosomal tubules, suggestive of defective tubule fission. This was accompanied by reduced lysosomal proteolytic capacity. As well as demonstrating that atlastin-1 is required for correct ER morphology in human neurons, our results indicate that lack of a classical ER-shaping protein such as atlastin-1 may cause altered endosomal tubulation and lysosomal proteolytic dysfunction. Furthermore, they strengthen the idea that defective lysosome function contributes to the pathogenesis of a broad group of HSPs, including those where the primary localisation of the protein involved is not at the endolysosomal system.
PubMed: 38851544
DOI: 10.1016/j.nbd.2024.106556