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Journal of Clinical Medicine Jan 2024The objective of this study is to present the current outcomes of fenestrated/branched endovascular repair (F/BEVAR) for post-dissection thoracoabdominal aortic... (Review)
Review
The objective of this study is to present the current outcomes of fenestrated/branched endovascular repair (F/BEVAR) for post-dissection thoracoabdominal aortic aneurysms (PDTAAAs). A systematic review of the literature according to PRISMA guidelines up to October 2023 was conducted (protocol CRD42023473403). Studies were included if ≥10 patients were reported and at least one of the major outcomes was stated. A total of 10 studies with 585 patients overall were included. The pooled estimate for technical success was 94.3% (95% CI 91.4% to 96.2%). Permanent paraplegia developed with a pooled rate of 2.5% (95% CI 1.5% to 4.3%), whereas a cerebrovascular event developed with a pooled rate of 1.6% (95% CI 0.8% to 3.0%). An acute renal function impairment requiring new-onset dialysis occurred with a pooled rate of 2.0% (95% CI 1.0% to 3.8%). Postoperative respiratory failure was observed with a pooled estimate of 5.5% (95% CI 3.8% to 8.1%). The pooled estimate for 12-month overall survival was 90% (95% CI 85% to 93.5%), and the pooled estimates for 24-month and 36-month survival were 87.8% (95% CI 80.9% to 92.5%) and 85.5% (95% CI 76.5% to 91.5%), respectively. Freedom from reintervention was estimated at 83.9% (95% CI 75.9% to 89.6%) for 12 months, 82.8% (95% CI 68.7% to 91.4%) for 24 months and 76.1% (95% CI 60.6% to 86.8%) for 36 months. According to the present findings, F/BEVAR can be performed in PD-TAAAs with high rates of technical success and good mid-term results.
PubMed: 38256542
DOI: 10.3390/jcm13020410 -
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 -
Frontiers in Psychiatry 2024To provide an overview of the digital mental health care landscape for individuals with spinal cord injury (SCI).
OBJECTIVE
To provide an overview of the digital mental health care landscape for individuals with spinal cord injury (SCI).
METHODS
PubMed, PsycInfo, and PSYNDEX were searched for articles meeting the following criteria: (1) article written in English or German; (2) digital psychosocial intervention; (3) SCI only; (4) treatment of individuals with SCI and not their relatives or caregivers. Records were screened by title and abstract and records meeting the inclusion criteria were obtained for full text screening. The references of identified articles were screened to find further relevant articles. The literature search was updated before submission. Risk of Bias was assessed by using the Cochrane risk-of-bias tool for randomized trials (RoB 2) and a narrative synthesis was conducted.
RESULTS
Ten randomized-controlled trials (RCT) and ten non-randomized-controlled trials were identified and compared in this review, evaluating twelve internet- and mobile-based interventions, five smartphone apps, and three virtual reality applications. The interventions were primarily used as stand-alone aftercare programs. While some were not based on any theory, cognitive behavioral therapy mostly served as the theoretical basis for the online interventions. The extent of human support also varied greatly between the studies. The number of intervention modules ranged between 2 and 72. There were also major differences in outcome variables and effects. A meta-analytical evaluation of the data was not conducted due to heterogeneity of studies.
CONCLUSION
Digital applications to promote the psychosocial health of individuals with SCI are an emerging field of research with many treatment approaches still to come. First high quality RCT studies report promising results. Unfortunately, not all studies are of high quality or the interventions have been insufficiently adapted to the needs of people with SCI. Therefore, more research is needed to further develop applications, and to generalize and test the effects found in the long term.
PubMed: 38317764
DOI: 10.3389/fpsyt.2024.1289138 -
Brain : a Journal of Neurology Jun 2024Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair...
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a systematic evidence-based review of a novel cohort of 23 new patients along with 95 reported individuals with PNPLA6 variants that implicate missense variants as a driver of disease pathogenesis. Measuring esterase activity of 46 disease-associated and 20 common variants observed across PNPLA6-associated clinical diagnoses unambiguously reclassified 36 variants as pathogenic and 10 variants as likely pathogenic, establishing a robust functional assay for classifying PNPLA6 variants of unknown significance. Estimating the overall NTE activity of affected individuals revealed a striking inverse relationship between NTE activity and the presence of retinopathy and endocrinopathy. This phenomenon was recaptured in vivo in an allelic mouse series, where a similar NTE threshold for retinopathy exists. Thus, PNPLA6 disorders, previously considered allelic, are a continuous spectrum of pleiotropic phenotypes defined by an NTE genotype:activity:phenotype relationship. This relationship, and the generation of a preclinical animal model, pave the way for therapeutic trials, using NTE as a biomarker.
Topics: Animals; Female; Humans; Male; Mice; Acyltransferases; Carboxylic Ester Hydrolases; Mutation, Missense; Phenotype; Phospholipases; Retinal Diseases
PubMed: 38735647
DOI: 10.1093/brain/awae055 -
CNS Neuroscience & Therapeutics Mar 2024Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia....
BACKGROUND
Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia. Multiple genes are associated with complex III defects. Among them, the mutation of TTC19 is a rare subtype.
METHODS
We screened a Chinese boy with weakness of limbs and his non-consanguineous parents by whole exome sequencing and targeted sequencing.
RESULTS
We report a Chinese boy diagnosed with mitochondrial complex III defect type 2 carrying a homozygous variant (c.719-732del, p.Leu240Serfs*17) of the TTC19 gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance. We provide his clinical manifestation.
CONCLUSIONS
A new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII-deficient diseases.
Topics: Male; Humans; Electron Transport Complex III; Membrane Proteins; Mutation; Peripheral Nervous System Diseases; Movement Disorders; Pedigree; Mitochondrial Diseases
PubMed: 37927170
DOI: 10.1111/cns.14425