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Journal of Clinical Medicine May 2024Upper body pain, particularly in the limbs and shoulders, is a common symptom among patients with spinal cord injury (SCI) and wheelchair users. Despite the focus on... (Review)
Review
Upper body pain, particularly in the limbs and shoulders, is a common symptom among patients with spinal cord injury (SCI) and wheelchair users. Despite the focus on resistance muscle training as a suitable intervention for SCI individuals, findings across different populations and conditions have been inconsistent. We conducted a systematic review to elucidate the correlations among exercise interventions, muscle strength enhancement, and pain reduction. A comprehensive literature search was performed using the keywords "spinal cord injury," "pain," "exercise," "disability," "paraplegia," and "tetraplegia" across the DBpia, EMBASE, PubMed, and Science Direct databases. From 191 identified articles, 13 studies (1 from Korea and 12 from other countries) were selected for analysis. The results indicate that exercise interventions are effective in reducing pain in patients with SCI, with a particular emphasis on alleviating shoulder pain. Exercise is essential for pain reduction in patients with SCI, especially those experiencing shoulder pain. However, there is a notable lack of experimental research focusing primarily on pain. The development of appropriate measurement instruments is crucial for the prevention and relief of pain in this patient population.
PubMed: 38892777
DOI: 10.3390/jcm13113066 -
Journal of Cardiothoracic Surgery Jun 2024The surgical treatment strategy for aortic arch pathology with a shaggy aorta must be determined on a case-by-case basis because of the risk of catastrophic...
BACKGROUND
The surgical treatment strategy for aortic arch pathology with a shaggy aorta must be determined on a case-by-case basis because of the risk of catastrophic complications, such as brain infarction and spinal cord injury.
CASE PRESENTATION
This report describes the surgical case of two saccular aneurysms of the arch and abdominal aorta associated with a shaggy aorta in a 63-year-old man who underwent total arch replacement and secondary thoracic endovascular aortic repair. Considering the risk of embolization during endovascular therapy, graft replacement for the abdominal aortic aneurysm was initially performed. On postoperative day 28, total arch replacement with the conventional elephant trunk was performed using the functional brain isolation technique, which involves manipulating places far from the atherosclerotic burden, such as arterial inflow for cardiopulmonary bypass and unclamping of neck vessels. On postoperative day 7 after total arch replacement, thoracic endovascular aortic repair was performed across the conventional elephant trunk in the nondiseased descending aorta. No postoperative complications, such as cerebrovascular failure, paraplegia, or embolization to abdominal viscera or lower extremities, occurred. The patient remained asymptomatic.
CONCLUSIONS
The present case suggests that total arch replacement with the conventional elephant trunk and secondary thoracic endovascular aortic repair may be an effective alternative for aortic arch pathology with a shaggy aorta. The strategy for surgical treatment in patients with aortic arch pathologies with a shaggy aorta must be judged on a case-by-case basis, considering patient characteristics, comorbidities, and preoperative evaluation using transesophageal echocardiography and computed tomography angiography, to eliminate potential determinants of intraoperative stroke.
Topics: Humans; Male; Middle Aged; Aorta, Thoracic; Aortic Aneurysm, Thoracic; Endovascular Procedures; Blood Vessel Prosthesis Implantation; Tomography, X-Ray Computed
PubMed: 38890739
DOI: 10.1186/s13019-024-02841-5 -
Stem Cell Research Jun 2024Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal...
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. This study is aimed to create a patient-derived human induced pluripotent stem cell (hiPSC) line with a specific nonsense mutation to better characterize the etiopathogenesis of the disease.
PubMed: 38889632
DOI: 10.1016/j.scr.2024.103472 -
Neural Regeneration Research Mar 2025Developing effective and long-term treatment strategies for rare and complex neurodegenerative diseases is challenging. One of the major roadblocks is the extensive...
Developing effective and long-term treatment strategies for rare and complex neurodegenerative diseases is challenging. One of the major roadblocks is the extensive heterogeneity among patients. This hinders understanding the underlying disease-causing mechanisms and building solutions that have implications for a broad spectrum of patients. One potential solution is to develop personalized medicine approaches based on strategies that target the most prevalent cellular events that are perturbed in patients. Especially in patients with a known genetic mutation, it may be possible to understand how these mutations contribute to problems that lead to neurodegeneration. Protein-protein interaction analyses offer great advantages for revealing how proteins interact, which cellular events are primarily involved in these interactions, and how they become affected when key genes are mutated in patients. This line of investigation also suggests novel druggable targets for patients with different mutations. Here, we focus on alsin and spastin, two proteins that are identified as "causative" for amyotrophic lateral sclerosis and hereditary spastic paraplegia, respectively, when mutated. Our review analyzes the protein interactome for alsin and spastin, the canonical pathways that are primarily important for each protein domain, as well as compounds that are either Food and Drug Administration-approved or are in active clinical trials concerning the affected cellular pathways. This line of research begins to pave the way for personalized medicine approaches that are desperately needed for rare neurodegenerative diseases that are complex and heterogeneous.
PubMed: 38886938
DOI: 10.4103/NRR.NRR-D-23-02068 -
Practical Neurology Jun 2024
PubMed: 38886050
DOI: 10.1136/pn-2024-004115 -
International Journal of Sports Medicine Jun 2024Thermoregulation is impaired in individuals with a spinal cord lesion (SCI), affecting sweat capacity, heat loss, and core temperature. This can be particularly...
Thermoregulation is impaired in individuals with a spinal cord lesion (SCI), affecting sweat capacity, heat loss, and core temperature. This can be particularly problematic for athletes with SCI who exercise in hot and humid conditions, like those during the Tokyo 2020 Paralympic Games. Heat acclimation can support optimal preparation for exercise in such challenging environments, but evidence is limited in endurance athletes with SCI. We evaluated whether seven consecutive days of exercise in the heat would result in heat acclimation. Five elite para-cycling athletes with SCI participated (two females, three males, median (Q1-Q3) 35 (31-51) years, four with paraplegia and one with tetraplegia). All tests and training sessions were performed in a heat chamber (30°C and 75% relative humidity). A time-to-exhaustion test was performed on day 1 (pretest) and day 7 (posttest). On days 2-6, athletes trained daily for one hour at 50-60% of individual peak power (P). Comparing pretest and posttest, all athletes increased their body mass loss (p=0.04), sweat rate (p=0.04), and time to exhaustion (p=0.04). Effects varied between athletes for core temperature and heart rate. All athletes appeared to benefit from our heat acclimation protocol, helping to optimize their preparation for the Tokyo 2020 Paralympic Games.
PubMed: 38885662
DOI: 10.1055/a-2321-1832 -
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