scholarly journals Identification of TH Variants in Chinese Dopa-Responsive Dystonia Patients and Long-Term Outcomes

2021 ◽  
Vol 12 ◽  
Author(s):  
Xin-yao Li ◽  
Ying-mai Yang ◽  
Li-bo Li ◽  
Meng-yu Zhang ◽  
Yang-yu Huang ◽  
...  
Keyword(s):  
Rating Scale ◽  
Age At Onset ◽  
Poor Response ◽  
Diurnal Fluctuation ◽  
Homozygous Mutation ◽  
Motor Symptoms ◽  
Long Term Outcomes ◽  
Whole Exome ◽  
Current Medication

Background: Dopa-responsive dystonia (DRD) is a movement disorder that is highly clinically and genetically heterogeneous. Our study summarizes clinical characteristics and long-term outcomes in patients with dopa-responsive dystonia with the aim of obtaining further knowledge on this disorder.Methods: Patients who met DRD genetic diagnostic criteria through whole-exome sequencing and took levodopa for over 3 years were included in our study. Detailed information was collected on these patients, including family history, age at onset, age and dosage at starting levodopa, current medication and dosage, levodopa duration, diurnal fluctuation, and other clinical features. The Burke–Fahn–Marsden Dystonia Rating Scale-Motor (BFMDRS-M) score was used to evaluate patients' dystonia and variation after levodopa. According to the long-term outcomes, patients were further graded as good (dystonia improved by more than 50% after levodopa, and no further motor symptoms appeared) and poor (dystonia improved by <50% after levodopa, or new motor symptoms appeared).Results: A total of 20 DRD patients were included (11 with GCH1 variants, 9 with TH variants). During long-term levodopa treatment, three patients with TH variants (3/20, 15%) developed motor symptoms, including body jerks and paroxysmal symptoms, and responded well to increasing levodopa doses. The patient with homozygous mutation c.1481C>T/p. Thr494Met harbored more serious symptoms and poor response to levodopa and showed decreased cardiac uptake in MIBG.Conclusions: Most DRD patients showed satisfactory treatment outcomes after long-term levodopa, whereas few patients with TH variants presented motor symptoms, which is considered to be related to dopamine insufficiency. For patients with motor symptoms after long-term levodopa, increasing the dose slowly might be helpful to relieve symptoms.

scholarly journals Pemphigus Vulgaris: A Clinical Study of 31 Cases (2004–2014) in Morocco

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Titou Hicham ◽  
Fatima Zahra Chahnoun ◽  
Tarik Hanafi ◽  
Naoufal Hjira ◽  
Boui Mohammed
Keyword(s):  
Oral Cavity ◽  
Age At Onset ◽  
Pemphigus Vulgaris ◽  
Direct Immunofluorescence ◽  
Long Term Outcomes ◽  
Prognosis Factors ◽  
Mucosal Involvement ◽  
Multiple Relapses

Background. Pemphigus vulgaris is a rare bullous autoimmune dermatosis whose evolution and prognosis are unpredictable. Aim. The objective was to analyze long-term outcomes in patients with pemphigus vulgaris by identifying the factors that are able to influence prognosis, in particular the phenotype of pemphigus vulgaris, age at onset, multiplicity of mucosal involvement, relapse and remission rates, and survival functions. Methods. A retrospective analysis of a cohort of 31 patients followed for pemphigus vulgaris during the period from January 2004 to January 2014. Inclusion criteria were a diagnosis of pemphigus vulgaris confirmed by histopathology and direct immunofluorescence (DIF) and a period of follow-up of at least five years from the diagnosis. The following information was collected by a single investigator. Results. In total, 67.7% of patients presented a mucocutaneous pemphigus vulgaris. Male-female sex ratio was 2.4. The median duration of patient’s follow-up was estimated at 7 (6–9) years. Multiple mucosal involvement in the oral cavity and at other mucosal sites was significantly associated with severe mucocutaneous pemphigus vulgaris (p=0.01). Multiple relapses were significantly associated with the disease severity (p=0.04). Conclusion. Poor prognosis factors were severe mucocutaneous type of pemphigus vulgaris and multiple mucosal involvement in the oral cavity and at other mucosal sites.

Factors involved in long-term efficacy of deep brain stimulation of the thalamus for essential tremor

2008 ◽  
Vol 109 (4) ◽  
pp. 640-646 ◽  
Author(s):  
Julie G. Pilitsis ◽  
Leo Verhagen Metman ◽  
John R. Toleikis ◽  
Lindsay E. Hughes ◽  
Sepehr B. Sani ◽  
...  
Keyword(s):  
Essential Tremor ◽  
Disease Progression ◽  
Rating Scale ◽  
Long Term Outcomes ◽  
Intraoperative Fluoroscopy ◽  
Duration Of Disease ◽  
Deep Brain ◽  
Stimulation Of

Object Although nucleus ventralis intermedius stimulation has been shown to be safe and efficacious in the treatment of essential tremor, there is a subset of patients who eventually lose benefit from their stimulation. Proposed causes for this phenomenon include tolerance, disease progression, and suboptimal location. The goal of this study was to assess the factors that may lead to both stimulation failure, defined as loss of meaningful tremor relief, and less satisfactory outcomes, defined as leads requiring voltages > 3.6 V for effective tremor control. Methods The authors present their clinical outcomes from 31 leads in 27 patients who had effective tremor control for > 1 year following nucleus ventralis intermedius stimulation. All patients postoperatively had a mean decrease in both the writing and drawing subscales of the Fahn-Tolosa-Marin Tremor Rating Scale (p < 0.001). Results After a mean follow-up of 40 months, 22 patients continued to have tremor control with stimulation. Four patients eventually lost efficacy of their stimulation at a mean of 39 months. There was no difference in age, duration of disease, or disease severity between the groups. Examination of perioperative factors revealed that suboptimal anteroposterior positioning as evidenced on intraoperative fluoroscopy occurred significantly more frequently in patients with stimulation failure (p = 0.018). In patients with less satisfactory outcomes, no difference was seen between group demographics. Fluoroscopy again revealed suboptimal positioning more frequently in these patients (p = 0.005). Conclusions This study provides further evidence that suboptimal lead position in combination with disease progression or tolerance may result in less satisfactory long-term outcomes.

scholarly journals The Effects of Long-Term 40-Hz Physioacoustic Vibrations on Motor Impairments in Parkinson’s Disease: A Double-Blinded Randomized Control Trial

Healthcare ◽  
2020 ◽  
Vol 8 (2) ◽  
pp. 113
Author(s):  
Abdullah Mosabbir ◽  
Quincy J. Almeida ◽  
Heidi Ahonen
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rating Scale ◽  
Controlled Trial ◽  
Motor Symptom ◽  
Therapeutic Effects ◽  
Motor Symptoms ◽  
Quantitative Evidence ◽  
40 Hz

Recent studies have suggested that vibration therapy may have a positive influence in treating motor symptoms of Parkinson’s disease (PD). However, quantitative evidence of the benefits of vibration utilized inconsistent methods of vibration delivery, and to date there have been no studies showing a long-term benefit of 40 Hz vibration in the PD population. The objective of this study was to demonstrate the efficacy of vibration administered via a physioacoustic therapy method (PAT) on motor symptoms of PD over a longer term, completed as a randomized placebo-controlled trial. Overall motor symptom severity measured by the Unified Parkinson’s Disease Rating Scale III showed significant improvements in the treatment group over 12 weeks. Specifically, all aspects of PD, including tremor, rigidity, bradykinesia, and posture and gait measures improved. To our knowledge, this is the first study to quantitatively assess 40-Hz vibration applied using the PAT method for potential long-term therapeutic effects on motor symptoms of PD.

scholarly journals The Cold Hand Sign in Multiple System Atrophy: Frequency-Associated Factors and Its Impact on Survival

2021 ◽  
Vol 13 ◽  
Author(s):  
Bei Cao ◽  
Yan Liang ◽  
Ling-Yu Zhang ◽  
Yan-Bing Hou ◽  
Ru-Wei Ou ◽  
...  
Keyword(s):  
Multiple System Atrophy ◽  
Disease Duration ◽  
Rating Scale ◽  
Age At Onset ◽  
Motor Symptom ◽  
Motor Symptoms ◽  
Symptom Scale ◽  
The Impact ◽  
Early Occurrence ◽  
Non Motor Symptoms

Background: Few studies have focused on the cold hand sign (CHS), a red flag symptom, in multiple system atrophy (MSA).Objective: This study aimed to investigate the frequency and correlative factors of CHS in patients with MSA and the impact of its early occurrence on the survival of these patients.Methods: A total of 483 patients with MSA were enrolled in this study, and the motor and non-motor symptoms between patients with MSA with and without CHS were compared. Moreover, patients with disease duration ≤ 3 years at baseline were followed, and the association between CHS and survival of patients with MSA was examined.Results: The frequencies of CHS in patients with MSA were 20, 15.4, and 25.3% in MSA, MSA-parkinsonian subtype (MSA-P), and MSA-cerebellar subtype (MSA-C), respectively. Higher Unified Multiple System Atrophy Rating Scale (UMSARS) scores and higher Non-Motor Symptom Scale (NMSS) scores at baseline were associated with CHS in MSA. CHS was associated with shorter survival after adjusting for baseline diagnosis subtype, age at onset, sex, orthostatic hypotension, disease duration, autonomic onset, UMSARS total score, and NMSS score (p = 0.001; HR = 3.701; 95% CI = 1.765–7.760).Conclusion: CHS is not rare in patients with MSA. Greater disease severity and more severe non-motor symptoms were associated with CHS in patients with MSA. Patients with early occurrence of CHS had a poor prognosis.

scholarly journals Decompression in Adult Lumbar Deformity Surgery Is Associated With Increased Perioperative Complications but Favorable Long-Term Outcomes

2017 ◽  
Vol 8 (2) ◽  
pp. 110-113
Author(s):  
Isaac O. Karikari ◽  
Keith H. Bridwell ◽  
Aladine A. Elsamadicy ◽  
Lawrence G. Lenke ◽  
Patrick Sugrue ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Spinal Stenosis ◽  
Rating Scale ◽  
Perioperative Complications ◽  
Leg Pain ◽  
Complication Rates ◽  
Long Term Outcomes ◽  
Lumbar Scoliosis ◽  
The Impact

Study Design: Retrospective cohort study. Objectives: To analyze the impact of performing a formal decompression in patients with adult lumbar scoliosis with symptomatic spinal stenosis on perioperative complications and long-term outcomes. Methods: Adult patients undergoing at least 5 levels of fusion to the sacrum with iliac fixation from 2002 to 2008 who had a minimum 5-year follow-up at one institution were studied. Patients who had 3-column osteotomy were excluded from the study. Perioperative complications and clinical outcomes (Scoliosis Research Society [SRS], Oswestry Disability Index [ODI], and Numerical Rating Scale [NRS] back/leg pain) were analyzed. Patients who underwent formal laminectomy/decompressions were compared with those who did not. Differences between the 2 groups were analyzed using Student’s t test. Results: A total of 147 patients were included in the study (Decompression: n = 55 [37%], No decompression: n = 92 [63%]). Average fusion levels for the decompression and no decompression groups were 11 and 12 levels, respectively ( P = .26). Mean improvements in SRS domains for decompression versus no decompression patients, respectively, were pain (1.1 vs 0.9, P = .3), function (0.7 vs 0.5, P = .09), self-image (1.1 vs 1.1, P = .9), and mental health (0.5 vs 0.4, P = .5). Furthermore, additional mean improvements were ODI (21 vs 21, P = .14), NRS-Back pain (3.0 vs 1.3, P = .16), and NRS-Leg pain (3.9 vs 0.5, P = .002). Complication rates between the decompression group and no decompression group differed in incidental durotomies (18.2% vs 0%) and cardiac-related (9.1% vs 1.1%). Conclusions: Performing a formal decompression in adult lumbar scoliosis with symptomatic spinal stenosis is associated with increased perioperative complications but favorable long-term clinical outcomes.

scholarly journals Long-Term Outcomes of Epidurals with Lidocaine With or Without Steroids for Lumbar Disc Herniation and Spinal Stenosis: A Meta-Analysis

2020 ◽  
Vol 4;23 (7;4) ◽  
pp. 365-373
Author(s):  
Jianxiong An
Keyword(s):  
Spinal Stenosis ◽  
Lumbar Disc Herniation ◽  
Disc Herniation ◽  
Rating Scale ◽  
Lumbar Disc ◽  
Meta Analysis ◽  
Numeric Rating Scale ◽  
Long Term Outcomes ◽  
Effective Pain Relief

Background: Previous meta-analyses examined only the short-term differences between lidocaine and steroids vs lidocaine alone in treating lumbar degenerative diseases. Long-term outcomes (1-2 years) in patients with lumbar disc herniation (LDH) and lumbar central spinal stenosis (LCSS) have not yet been systematically evaluated. Objective: The objective of our study was to assess quantitatively the difference in efficacy at 1 to 2 years between lidocaine alone vs lidocaine and steroids for the management of LDH or LCSS. Study Design: We conducted a meta-analysis. Methods: PubMed, EMBASE, and the Cochrane library were electronically searched up to July 22, 2016, for randomized controlled trials comparing lidocaine alone vs in combination with steroids for the treatment of LDH and LCSS. Effective pain relief (EPR), Numeric Rating Scale (NRS-11), Oswestry Disability Index (ODI), opioid intake (OI), and total employed increased rate (TEIR) were the endpoints. Risk ratios (RRs) or weighted mean difference (WMD) with 95% confidence intervals (CIs) were calculated, and the pooled analysis was conducted using RevMan 5.2. Results: Seven trials were included. EPR was not significantly different at 1 and 2 years, with RR = 1.08 (95% CI, 0.90-1.30; P = .39) and RR = 1.04 (95% CI, 0.92-1.18; P = .51), respectively, in patients treated with lidocaine alone vs in combination with steroids. The NRS11 was also similar at 1 and 2 years. ODI and OI were not significantly different at 1 and 2 years. A similar TEIR effect was also observed for the 2 treatments. Limitations: This meta-analysis relied on a small sample size of trials. Significant heterogeneity among studies was observed. Several significant differences in terms of age of the patients were reported in one included trial. Conclusion: This meta-analysis confirmed the similar effects associated with lidocaine alone vs in combination with steroids for the management of LDH and LCSS. Studies with longer follow-up periods are still recommended. Key words: Effective pain relief, lidocaine, long-term, lumbar central spinal stenosis, lumbar disc herniation, Numeric Rating Scale, opioid intake, Oswestry Disability Index, steroids, total employed increased rate

scholarly journals How Do Geriatric Scores Predict 1-Year Mortality in Elderly Patients with Suspected Pneumonia?

Geriatrics ◽  
2021 ◽  
Vol 6 (4) ◽  
pp. 112
Author(s):  
Alberto Nascè ◽  
Astrid Malézieux-Picard ◽  
Landry Hakiza ◽  
Thomas Fassier ◽  
Dina Zekry ◽  
...  
Keyword(s):  
Elderly Patients ◽  
Rating Scale ◽  
Nutritional Assessment ◽  
Univariate Analysis ◽  
Mini Nutritional Assessment ◽  
Functional Independence Measure ◽  
Functional Independence ◽  
Long Term Outcomes ◽  
Long Term Prognosis

Background: Pneumonia has an impact on long-term mortality in elderly patients. The risk factors associated with poor long-term outcomes are understated. We aimed to assess the ability of scores that evaluate patients’ comorbidities (cumulative illness rating scale—geriatric, CIRS-G), malnutrition (mini nutritional assessment, MNA) and functionality (functional independence measure, FIM) to predict 1-year mortality in a cohort of older patients having a suspicion of pneumonia. Methods: Our prospective study included consecutive patients over 65 years old and hospitalized with a suspicion of pneumonia enrolled in a monocentric cohort from May 2015 to April 2016. Each score was analysed in univariate and multivariate models and logistic regressions were used to identify contributors to 1-year mortality. Results: 200 patients were included (51% male, mean age 83.8 ± 7.7). Their 1-year mortality rate was 30%. FIM (p < 0.01), CIRS-G (p < 0.001) and MNA (p < 0.001) were strongly associated with poorer long-term outcomes in univariate analysis. CIRS-G (p < 0.05) and MNA (p < 0.05) were significant predictors of 1-year mortality in multivariate analysis. Conclusion: Long-term prognosis of patients hospitalized for pneumonia was poor and we identified that scores assessing comorbidities and malnutrition seem to be important predictors of 1-year mortality. This should be taken into account for evaluating elderly patients’ prognosis, levels and goals of care.

scholarly journals Milano–Torino Staging and Long-Term Survival in Chinese Patients with Amyotrophic Lateral Sclerosis

Cells ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1220
Author(s):  
Ruojie He ◽  
Minying Zheng ◽  
Ling Lian ◽  
Xiaoli Yao
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Disease Progression ◽  
Rating Scale ◽  
Age At Onset ◽  
Chinese Patients ◽  
Term Survival ◽  
Long Term Survival ◽  
Factors Affecting ◽  
Lateral Sclerosis

(1) Background: The aim of this longitudinal study was to evaluate the association between disease progression according to the Milano–Torino staging (MITOS) system and long-term survival in Chinese patients with amyotrophic lateral sclerosis (ALS). We also examined factors affecting MITOS progression. (2) Methods: Patients were enrolled and underwent follow-up at 6, 12, 18, and 24 months, and their demographic and clinical data, including the Milano–Torino stage, Amyotrophic Lateral Sclerosis Functional Rating Scale—Revised (ALSFRS-R) score and neuropsychiatric data, were evaluated. The sensitivity and specificity of predicting survival outcomes based on MITOS progression and ALSFRS-R score decline from baseline to 6 months were compared. The associations between MITOS progression from baseline to 6 months and survival outcome at 12, 18 and 24 months were examined, and factors associated with disease progression were evaluated with subgroup analyses. (3) Results: Among the 100 patients included, 74% were in stage 0 at baseline, and approximately 95% progressed to a higher stage of the MITOS system at 24 months. MITOS progression from baseline to 6 months and ALSFRS-R decline showed comparable value for predicting survival at 12, 18, and 24 months. MITOS progression from baseline to 6 months is strongly associated with death outcomes. Older age at onset and increased depression and anxiety scores may be related to disease progression. (4) Conclusions: MITOS progression during the early disease course could serve as a prognostic marker of long-term survival and may have utility in clinical trials. Age at onset and diagnosis and neuropsychiatric factors might be associated with disease progression.

Long-term Outcomes After Replacement of Percutaneous Leads With Paddle Leads in a Retrospective Cohort of Patients With Spinal Cord Stimulation Systems

Neurosurgery ◽  
2014 ◽  
Vol 75 (4) ◽  
pp. 430-436 ◽  
Author(s):  
Caio M. Matias ◽  
Amit Amit ◽  
Scott F. Lempka ◽  
John G. Ozinga ◽  
Sean J. Nagel ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Stimulation ◽  
Rating Scales ◽  
Rating Scale ◽  
Numerical Rating Scale ◽  
Pain Reduction ◽  
Long Term Outcomes ◽  
Coverage Area ◽  
Numerical Rating

Abstract BACKGROUND: Although the long-term outcomes for spinal cord stimulation (SCS) have been reported, long-term outcomes of patients who underwent revisions of the SCS with paddle leads are lacking. OBJECTIVE: To report the long-term outcomes of 39 patients who had percutaneous SCS revised with a new paddle lead. METHODS: Baseline and follow-up mail-in questionnaires assessed pain and disability levels with numerical rating scales, somatotopical overlap between SCS-related paresthesias and areas of chronic pain, and overall satisfaction. Analysis was performed with regard to age, sex, diagnosis, duration of disease, number of surgical revisions, complications, and interval between surgeries. RESULTS: After surgical revision, 20 patients (50%) had at least a 3-point reduction in the numerical rating scale. Greater pain reduction was correlated with better coverage (P = .001). Coverage area was greater in patients with a single revision than in patients with multiple revisions (P = .01). Good satisfaction was reported by 25 patients (62.5%) who indicated that they would undergo the procedure again in order to achieve the same results. These patients had significantly greater pain reduction (P = .001) and better coverage (P = .002) than patients who reported otherwise. No other major complication occurred. CONCLUSION: Revision of percutaneous SCS systems with implantation of a new paddle lead is safe and more effective in patients who have undergone not more than 1 prior revision.

Long-term effect of low frequency stimulation of STN on dysphagia, freezing of gait and other motor symptoms in PD

2018 ◽  
Vol 89 (9) ◽  
pp. 989-994 ◽  
Author(s):  
Tao Xie ◽  
Lisa Bloom ◽  
Mahesh Padmanaban ◽  
Breanna Bertacchi ◽  
Wenjun Kang ◽  
...  
Keyword(s):  
Rating Scale ◽  
Freezing Of Gait ◽  
Term Effect ◽  
Double Blind Study ◽  
Motor Symptoms ◽  
Swallowing Function ◽  
Long Term Effect ◽  
Swallowing Difficulty ◽  
Stimulation Of

ObjectiveTo evaluate the long-term effect of 60 Hz stimulation of the subthalamic nucleus (STN) on dysphagia, freezing of gait (FOG) and other motor symptoms in patients with Parkinson’s disease (PD) who have FOG at the usual 130 Hz stimulation.MethodsThis is a prospective, sequence randomised, crossover, double-blind study. PD patients with medication refractory FOG at 130 Hz stimulation of the STN were randomised to the sequences of 130 Hz, 60 Hz or deep brain stimulation off to assess swallowing function (videofluoroscopic evaluation and swallowing questionnaire), FOG severity (stand–walk–sit test and FOG questionnaire) and motor function (Unified PD Rating Scale, Part III motor examination (UPDRS-III)) at initial visit (V1) and follow-up visit (V2, after being on 60 Hz stimulation for an average of 14.5 months), in their usual medications on state. The frequency of aspiration events, perceived swallowing difficulty and FOG severity at 60 Hz compared with 130 Hz stimulation at V2, and their corresponding changes at V2 compared with V1 at 60 Hz were set as primary outcomes, with similar comparisons in UPDRS-III and its subscores as secondary outcomes.ResultsAll 11 enrolled participants completed V1 and 10 completed V2. We found the benefits of 60 Hz stimulation compared with 130 Hz in reducing aspiration frequency, perceived swallowing difficulty, FOG severity, bradykinesia and overall axial and motor symptoms at V1 and persistent benefits on all of them except dysphagia at V2, with overall decreasing efficacy when comparing V2 to V1.ConclusionsThe 60 Hz stimulation, when compared with 130 Hz, has long-term benefits on reducing FOG, bradykinesia and overall axial and motor symptoms except dysphagia, although the overall benefits decrease with long-term use.Clinical trial registrationNCT02549859; Pre-results.

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