Introduction
Spinocerebellar ataxia type 3 (SCA-ATXN3) is a genetic neurodegenerative disease characterized by progressive cerebellar ataxia and other variable findings, including Parkinsonian ...syndrome. There is no disease-modifying treatment for SCA-ATXN3, so symptom-based management predominates. We aim to illustrate the disease’s phenotypic variability and describe the effectiveness of advanced therapies in Parkinsonian symptoms.
Cases
We present two patients with a predominant levodopa-responsive Parkinsonian phenotype, combined with cerebellar features. We achieved an optimal control of Parkinsonian symptoms with a carbidopa-levodopa intestinal gel infusion pump.
Conclusions
We should suspect an SCA-ATXN3 etiology in patients with syndromes resembling an early-onset Parkinson disease with an autosomal dominant pattern. These patients could benefit from anti-Parkinsonian treatments, including levodopa intestinal gel infusion pump.
The objective of this review is to gather the newest advances in the surgical treatment of tremor and Parkinson's disease. We will briefly discuss the potential applications of the new technologies ...of deep brain stimulation (DBS), and we will focus on MRI-guided focused ultrasound (MRgFUS).
Novel DBS devices are being progressively adopted, particularly electrodes allowing a longer stimulating surface (suitable for multiple targets stimulation) and current radial steering (to minimize side effects of stimulation). New implantable pulse generators are also able to record neurons and are generating enough knowledge to advance the implementation of adaptive (closed-loop) DBS.Over the last years, 'minimally-invasive' neurosurgical approaches for the treatment of movement disorders have been developed: gamma knife radiosurgery and MRgFUS. Uncontrolled and recent controlled studies have shown the benefits of MRgFUS targeting the thalamus and pallidus for the treatment of tremor and Parkinson's disease.
The initial clinical data are certainly promising and have expanded the current portfolio of neurosurgical treatments of movement disorders. Many issues are yet to be addressed, particularly safety of MRgFUS-and how these new treatments compare with the existing ones.
The minimal clinically important difference (MCID) describes the smallest change in an outcome that is considered clinically meaningful. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) is the ...most frequently rating scale assessing the efficacy of deep brain stimulation therapy (DBS) for dystonia. To expand our understanding, we evaluated the MCID thresholds for the BFMDRS motor subscale (MS) using physician-reported outcomes.
We assessed the MCID thresholds for the BFMDRS using movement disorder specialist ratings of videotapes from patients with genetically determined dystonia (Tor1A and THAP1) who underwent bilateral globus pallidum internum (GPi) DBS. We calculated the effect size of the BFMDRS-MS change and determined the MCID thresholds using the Clinical Global Impression of Change (CGIC).
Twelve participants with a median age at DBS of 44.5 (range:27–68) had baseline and follow-up BFMDRS-MS with a median post-DBS follow-up of 5.5 years. Based on descriptive analysis, patients with good improvement after DBS according to the CGIC 8/12 (67%) had a median BFMDRS-MS score reduction of 77% Interquartile range (IQR):66.2;91.0) with an effect size of 0.39, and those with non-improvement 4/12 (33%), had a median BFMDRS-MS score reduction of 62% (IQR:36.6;83.6).
Our MCID estimates can be utilized in clinical practice in judging clinical relevance. However, further larger, powered studies are needed to simultaneously determine and compare MCID using patient and physician-reported outcomes in segmental and generalized dystonia in genetic and non-genetic populations.
•There is an ongoing need to assess Deep Brain Stimulation (DBS) meaningful clinical benefits in genetically determined populations with dystonia.•We described the minimal clinically important difference (MCID) thresholds for the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor scores (MS) for DBS therapy using physician-reported outcomes.•In this descriptive analysis, patients with good improvement after DBS had a median BFMDRS-MS score reduction of 77% with an effect size of 0.39.•Further larger studies are needed to determine the MCID using patient and physician-reported outcomes.
A Practical Overview on the Molecular Biology of Meningioma Delgado-López, Pedro David; Cubo-Delgado, Esther; González-Bernal, Jerónimo Javier ...
Current neurology and neuroscience reports,
11/2020, Letnik:
20, Številka:
12
Journal Article
Recenzirano
Purpose of Review
Meningioma is a common intracranial neoplasm currently classified in 15 histologic subtypes across 3 grades of malignancy. First-choice therapy for meningioma is maximum safe ...resection for grade I tumors, and surgery plus optional and mandatory adjuvant radiotherapy for grade II and III, respectively, given the increased rate of recurrence even in the event of complete resection. The WHO 2016 histopathologic grading of meningioma has been questioned due to subjectivity and its controversial predictive power for recurrence.
Recent Findings
Novel DNA methylation profiling has simplified classification into six classes that seem to improve prognostic accuracy.
Summary
We review five main topics of molecular biology research regarding tumorigenesis and natural history of meningioma from the clinician’s perspective: the histopathologic diagnostic features and pitfalls of the current tumor classification; the molecular integrated diagnosis supported by identification of genetic alterations and DNA methylation profiling; the general landscape of the various signaling pathways involved in meningioma formation; the pathogenic theories of the peri-tumoral edema present in meningioma and its therapy implications; and a summarized review on the current treatments and plausible targeted therapies directed to meningioma. It seems likely that molecular assessment will be introduced within the next update of the WHO classification of meningiomas, acknowledging the promising value of DNA methylation profiling. This integrated diagnostic protocol will simplify tumor subtype categorization and provide improved accuracy in predicting recurrence and outcome. Although much effort is being done in identifying key gene mutations, and elucidating specific intracellular signaling pathways involved in meningioma tumorigenesis, effective targeted therapies for recurrent meningiomas are still lacking.
As the global population grows, there is an increasing demand for neurologic consultation that prompts new ways to reach more patients. Telemedicine can provide an accessible, cost-effective, and ...high-quality healthcare services.
In this article, we highlight recent developments, achievements, and challenges regarding outcomes, clinical care, tele-education, teletreatment, teleresearch, and cybersecurity for telemedicine applied to Parkinson´s disease (PD) and other neurological conditions.
A growing body of evidence supports the feasibility and effectiveness of telemedicine tools for PD and other movement disorders. Outcome variables regarding satisfaction and efficacy in clinical care and specific issues about education, research, and treatment are reviewed. Additionally, a specific legal framework for teleconsultation has been developed in some centers worldwide. Yet, the implementation of telemedicine is conditioned by the limitations inherent to remote neurological examination, the variable computer usage literacy among patients, and the availability of a reliable internet connection. At present, telemedicine can be considered an additional tool in the clinical management of PD patients.
There is an increasing use of remote clinical practice regarding the management of PD and other neurological conditions. Telemedicine is a new and promising tool aimed at special settings and subpopulations.
Numerous interventions propose mindfulness training as a means of improving empathy. Our aim is to analyse the relationship between mindfulness practice and empathy through the mediating process of ...trait mindfulness. This sample comprised 264 undergraduate students (Formula: see text, SD = 11,39). The instruments used were Five Facet Mindfulness Questionnaire and Toronto Empathy Questionnaire. The indirect effect was calculated using 10.000 bootstrap samples for the bootstrap confidence intervals corrected for bias. Empathy improvement is mediated by changes in the cognitions derived from mindfulness (B = .346, p<.01). The direct effect of mindfulness practice on empathy disappears in presence of this mediator (B = .133, p>.05). Mindfulness interventions that aim to improve empathy should focus on three of its components; observing, describing and nonreactivity to inner experience. Given the significance of the results, the research must be extended to larger samples.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK