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1.
J Neurosurg ; : 1-9, 2024 Apr 05.
Article in English | MEDLINE | ID: mdl-38579342

ABSTRACT

OBJECTIVE: Malignant cerebral edema (MCE) is a life-threatening complication of ischemic stroke. Few studies have evaluated MCE in patients with acute basilar artery occlusion (BAO) receiving endovascular treatment (EVT). Therefore, the authors investigated the incidence, predictors, and functional outcomes of MCE in BAO patients undergoing EVT. METHODS: This was a post hoc analysis of the Endovascular Treatment for Acute Basilar Artery Occlusion (ATTENTION) trial, a prospective, randomized, multicenter clinical trial that compared endovascular treatment with conventional care of patients with BAO at 36 centers in China. Brain edema was retrospectively assessed using the Jauss score for all available follow-up scans, and patients with a Jauss score ≥ 4 were classified as having MCE. Clinical functional independence was defined as a modified Rankin Scale (mRS) score of 0-2, and a good outcome was defined as an mRS score of 0-3 at the 90-day follow-up. Univariate and multivariate analyses were used to explore the predictors of MCE and the impact of MCE on prognosis. RESULTS: A total of 189 patients were analyzed, and 13.2% of patients developed MCE. Multivariate analysis showed that the baseline Glasgow Coma Scale (GCS) score (OR 0.722, 95% CI 0.548-0.950; p = 0.020) and the number of procedures (OR 1.594, 95% CI 1.051-2.419; p = 0.028) were significantly associated with MCE. After adjusting for confounding factors, the presence of MCE was significantly associated with a lower rate of functional independence (OR 0.115, 95% CI 0.023-0.563; p = 0.008), a lower rate of good outcome (OR 0.092, 95% CI 0.023-0.360; p = 0.001), and a higher rate of mortality (OR 5.373, 95% CI 2.055-14.052; p = 0.001) at the 90-day follow-up. CONCLUSIONS: MCE is not uncommon in BAO patients undergoing EVT and is associated with poor outcomes. Baseline GCS score and the number of procedures were predictors of MCE. In clinical practice, it is crucial that physicians identifying MCE after EVT in patients with BAO and identification of MCE will help in the selection of an appropriate pharmacological treatment strategy and close monitoring.

2.
J Thromb Thrombolysis ; 57(1): 124-131, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37605064

ABSTRACT

OBJECTIVE: This study aimed to summarize the clinical outcomes of endovascular treatment in patients with basilar artery occlusion (BAO) with different pathologic mechanisms. METHODS: Two independent reviewers searched PubMed/MEDLINE, Embase and Cochrane Library database up to December 2022, patients with different BAO pathological mechanisms (BAO with in situ atherosclerosis vs. embolism alone without vertebral artery steno-occlusion vs. embolism from tandem vertebral artery steno-occlusion) were collected and analyzed. We calculated the odds ratios (ORs) and 95% confidence intervals (CIs) to assess the associations between clinical outcomes and BAO pathological mechanisms. RESULTS: A total of 1163 participants from 12 studies were identified. Compared with embolism alone, patients with in situ atherosclerotic BAO had a lower favorable outcome rate (modified Rankin score [mRS] 0-2: 34.5% vs. 41.2%; OR 0.83, 95% CI 0.70-0.98; P = 0.03) and moderate outcome rate (mRS 0-3: 45.8% vs. 55.4%; OR 0.65, 95% CI 0.47-0.90; P = 0.01) at 3 months and a higher risk of mortality (29.9% vs. 27.2%; OR 1.31, 95% CI 0.96-1.79, P = 0.09; adjusted OR 1.46, 95% CI 1.08-1.96). Tandem BAO had a comparable mortality risk to that of in situ atherosclerotic BAO (OR 1.37, 95% CI 0.84-2.22; P = 0.48) or embolism alone (OR 1.44, 95% CI 0.65-3.21; P = 0.43), and there were no significant differences in favorable or moderate outcomes between tandem BAO and each of the other two BAO mechanisms. CONCLUSION: Among BAO patients with endovascular treatment, embolism mechanism had better clinical outcomes than in situ atherosclerosis, and atherosclerotic mechanism was associated with a higher mortality at 3 months. RCTs are needed to further confirm clinical outcomes of BAO by different mechanisms.


Subject(s)
Arterial Occlusive Diseases , Atherosclerosis , Embolism , Endovascular Procedures , Stroke , Vertebrobasilar Insufficiency , Humans , Basilar Artery , Vertebrobasilar Insufficiency/surgery , Vertebrobasilar Insufficiency/etiology , Thrombectomy/adverse effects , Stroke/etiology , Treatment Outcome , Atherosclerosis/therapy , Atherosclerosis/etiology , Retrospective Studies
3.
J Vasc Interv Radiol ; 34(3): 420-426, 2023 03.
Article in English | MEDLINE | ID: mdl-36509235

ABSTRACT

PURPOSE: To investigate whether preceding intravenous thrombolysis combined with tirofiban in patients with acute ischemic stroke undergoing endovascular treatment is safe and effective. MATERIALS AND METHODS: Consecutive data were identified for patients who experienced acute ischemic stroke and were admitted to 2 comprehensive stroke centers from January 2015 to August 2021. All patients were divided into 2 groups-a thrombolytic with tirofiban group and a tirofiban-alone group-on the basis of whether intravenous thrombolysis before emergency endovascular angioplasty was used. Multivariate regression and propensity adjustment analyses were performed to characterize differences in safety and clinical outcomes between the 2 groups. RESULTS: Of 373 eligible patients, 111 (29.7%) were treated with thrombolysis with tirofiban. There was a significant difference in the rate of any intracerebral hemorrhage (35.1% vs 24.8%; P = .04) but not in the rates of symptomatic intracerebral hemorrhage (16.2% vs 11.5%; P = .23) and reocclusion at 24 hours (5.4% vs 7.6%; P = .51) between the 2 groups. Multivariate regression analysis revealed that intravenous thrombolysis was not associated with any or symptomatic intracerebral hemorrhage, artery occlusion, functional outcome, or death at the 3-month follow-up (all adjusted P > .05). After propensity adjustment, the thrombolytic with tirofiban group showed nonsignificant rates of clinical and safety outcomes compared with those of the tirofiban-alone group (all P > .05). CONCLUSIONS: Tirofiban may be used without increasing the risk of adverse events in selected patients who experienced ischemic stroke and were treated with intravenous thrombolysis and endovascular therapy.


Subject(s)
Brain Ischemia , Ischemic Stroke , Stroke , Humans , Tirofiban , Brain Ischemia/therapy , Treatment Outcome , Stroke/therapy , Fibrinolytic Agents , Cerebral Hemorrhage/chemically induced , Cerebral Hemorrhage/drug therapy , Thrombolytic Therapy
4.
J Infect Chemother ; 27(11): 1596-1601, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34330638

ABSTRACT

INTRODUCTION: There are few studies concerning the differences between asymptomatic neurosyphilis (ANS) and symptomatic neurosyphilis (SNS). This study aimed to summarize clinical, laboratory and brain Magnetic Resonance Imaging (MRI) characteristics of HIV-negative patients with ANS and SNS. METHODS: Data from 43 HIV-negative patients with ANS and 59 HIV-negative patients with SNS were retrospectively collected from our hospital between December 2012 and December 2018. RESULTS: Compared with the ANS group, SNS group had more patients that were male, age≥45 years, had brain MRI abnormalities, and exhibited higher serum/cerebrospinal fluid (CSF) TRUST titer, CSF WBC count, CSF protein concentration (P < 0.05). Multivariate regression analysis revealed that male sex, age ≥45 years and CSF TRUST titer were risk factors for SNS [odds ratio (OR) = 7.946,P = 0.001;OR = 3.757, P = 0.041; OR = 2.713, P = 0.002; respectively]. The brain MRI findings of 78 patients without comorbidities showed that ischemic infarct lesions presented in 17/37 (45.95%) of patients with ANS; infarct ischemic stroke (73.17%) especially multiple cerebral infractions (46.34%), cerebral atrophy (48.78%) were also common presentations in the SNS group. CONCLUSIONS: Patients with HIV-negative ANS and SNS presented different clinical, laboratory and brain MRI features. Male sex, age ≥45 years and elevated CSF TRUST titer may have an increased risk of developing neurological symptoms. Brain MRI abnormalities may present prior to clinical symptoms. Multiple cerebral infarctions without explained reasons or cerebral atrophy should alert clinicians the possibility of SNS.


Subject(s)
HIV Infections , Neurosyphilis , Brain/diagnostic imaging , HIV Infections/complications , HIV Infections/diagnostic imaging , Humans , Laboratories , Magnetic Resonance Imaging , Male , Middle Aged , Neurosyphilis/diagnostic imaging , Neurosyphilis/epidemiology , Retrospective Studies
5.
Int J Stroke ; 16(5): 573-584, 2021 07.
Article in English | MEDLINE | ID: mdl-33459583

ABSTRACT

BACKGROUND: The COVID-19 pandemic led to profound changes in the organization of health care systems worldwide. AIMS: We sought to measure the global impact of the COVID-19 pandemic on the volumes for mechanical thrombectomy, stroke, and intracranial hemorrhage hospitalizations over a three-month period at the height of the pandemic (1 March-31 May 2020) compared with two control three-month periods (immediately preceding and one year prior). METHODS: Retrospective, observational, international study, across 6 continents, 40 countries, and 187 comprehensive stroke centers. The diagnoses were identified by their ICD-10 codes and/or classifications in stroke databases at participating centers. RESULTS: The hospitalization volumes for any stroke, intracranial hemorrhage, and mechanical thrombectomy were 26,699, 4002, and 5191 in the three months immediately before versus 21,576, 3540, and 4533 during the first three pandemic months, representing declines of 19.2% (95%CI, -19.7 to -18.7), 11.5% (95%CI, -12.6 to -10.6), and 12.7% (95%CI, -13.6 to -11.8), respectively. The decreases were noted across centers with high, mid, and low COVID-19 hospitalization burden, and also across high, mid, and low volume stroke/mechanical thrombectomy centers. High-volume COVID-19 centers (-20.5%) had greater declines in mechanical thrombectomy volumes than mid- (-10.1%) and low-volume (-8.7%) centers (p < 0.0001). There was a 1.5% stroke rate across 54,366 COVID-19 hospitalizations. SARS-CoV-2 infection was noted in 3.9% (784/20,250) of all stroke admissions. CONCLUSION: The COVID-19 pandemic was associated with a global decline in the volume of overall stroke hospitalizations, mechanical thrombectomy procedures, and intracranial hemorrhage admission volumes. Despite geographic variations, these volume reductions were observed regardless of COVID-19 hospitalization burden and pre-pandemic stroke/mechanical thrombectomy volumes.


Subject(s)
COVID-19 , Global Health , Hospitalization/trends , Intracranial Hemorrhages/therapy , Stroke/therapy , Thrombectomy/trends , Cross-Sectional Studies , Hospitals, High-Volume/trends , Hospitals, Low-Volume/trends , Humans , Intracranial Hemorrhages/diagnosis , Intracranial Hemorrhages/epidemiology , Registries , Retrospective Studies , Stroke/diagnosis , Stroke/epidemiology , Time Factors
6.
Exp Ther Med ; 21(3): 185, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33488794

ABSTRACT

The present study explored the associations of the neutrophil to lymphocyte ratio (NLR) and the serum toluidine red unheated serum test (TRUST) titer with neurosyphilis (NS). The present retrospective study examined 87 NS patients and 80 Non-NS patients from an HIV-negative cohort and 1:1 age- and gender-matched healthy controls. The results demonstrated that the NLR was increased in both NS and Non-NS groups compared with that in the healthy controls (P<0.001 and P=0.01, respectively). The NLR and serum TRUST titer in the NS group were significantly higher than those in the Non-NS group (P=0.004 and P<0.001, respectively). The NLR was positively correlated with the serum TRUST titer (r=0.298, P<0.001). Age, elevated NLR and serum TRUST titer were distinctly associated with NS by binomial logistic regression analysis [odds ratio (OR)=1.10, P<0.001; OR=1.36, P=0.028; OR=3.07, P<0.001; respectively]. The cut-off values for the NLR and serum TRUST titer were 1.97 and 1:8, respectively. A significantly higher sensitivity of 90.8% was obtained for screening out NS with a combination of the NLR and serum TRUST titer compared with each test alone. Age, elevated NLR and serum TRUST titer were associated with NS. The combination of NLR and serum TRUST titer is a potential predictor for NS, and the reduced NLR and serum TRUST titer at the 6-month follow up suggested that the NLR and serum TRUST titer were biomarkers for monitoring the disease course.

7.
Dermatol Ther (Heidelb) ; 10(2): 273-283, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32124253

ABSTRACT

INTRODUCTION: Many studies have explored the imaging characteristics of patients with neurosyphilis, but no systematic study has been made on the neuroimaging changes after anti-syphilitic treatment. The purpose of this study was to examine neuroimaging differences before and after treatment, comparing patients with asymptomatic and symptomatic neurosyphilis. METHODS: A total of 102 patients with neurosyphilis, including 60 cases of symptomatic neurosyphilis and 42 cases of asymptomatic neurosyphilis, were identified between December 2012 and June 2019. Their demographics, medical histories, serological tests of peripheral blood and cerebrospinal fluid, and especially neuroimaging features before and after anti-syphilitic treatment were collected and analyzed. RESULTS: The patients presented with variable clinical and neuroimaging features, including cerebral infarction or hemorrhage, atrophy, demyelination, arteritis, encephalitis, and hippocampal sclerosis. A total of 29 neuroradiological re-examinations were performed in 19 patients treated with anti-syphilitic medicine. The results indicated that some patients still presented neuroradiological progression after treatment, including 42.1% showing infarction lesions, 47.4% mild to severe brain atrophy, and 15.8% white matter demyelination. CONCLUSION: The clinical and neuroimaging features of neurosyphilis patients are diverse, and their follow-up neuroimaging continued to show progression even with standardized treatment.

8.
J Neuroradiol ; 47(6): 428-432, 2020 Nov.
Article in English | MEDLINE | ID: mdl-32035971

ABSTRACT

BACKGROUND AND PURPOSE: The aim of the study was to evaluate whether leukoaraiosis (LA) severity is associated with earlier neurological outcome in acute stroke patients undergoing mechanical thrombectomy. MATERIALS AND METHODS: In this retrospective multicenter study, we evaluated 273 acute stroke patients treated with mechanical thrombectomy. LA severity was graded as 0-2 (absent-to-moderate) versus 3-4 (severe) according to the van Swieten scale. The main clinical outcome was the proportion of early neurological improvement and early neurological deterioration. Early neurological improvement was defined as a decrease of≥4 points on the NIHSS, or an NIHSS score of zero 24hours after baseline assessment. Early neurological deterioration was defined as an increase of≥4 points on the NIHSS 24hours after baseline assessment. RESULTS: There was a significantly lower early neurological improvement rate (17.1% versus 39.2%; P=0.006) and non-significantly higher early neurological deterioration rate (29.3% versus 17.7%; P=0.084) in patients with severe LA (sLA) compared with patients with absent-to-moderate LA. In multivariable analysis, sLA was inversely associated with early neurological improvement (OR, 0.31; 95% CI, 0.13-0.78; P=0.012). There was no significant association of sLA with early neurological deterioration. However, in patients without symptomatic intracranial hemorrhage, sLA was an independent predictor of early neurological deterioration (OR, 2.65; 95% CI, 1.09-6.45; P=0.032). CONCLUSIONS: sLA is a significant negative predictor of early neurological improvement and is an independent predictor of early neurological deterioration in patients without symptomatic intracranial hemorrhage.


Subject(s)
Ischemic Stroke/surgery , Leukoaraiosis/diagnostic imaging , Neuroimaging/methods , Postoperative Complications/diagnostic imaging , Thrombectomy/methods , Aged , China , Female , Humans , Male , Middle Aged , Retrospective Studies , Severity of Illness Index
9.
BMC Neurol ; 19(1): 150, 2019 Jul 05.
Article in English | MEDLINE | ID: mdl-31277603

ABSTRACT

BACKGROUND: Mechanical thrombectomy has been proven as a standard care for moderate to severe ischemic stroke with anterior large vessel occlusion (LVO); however, whether it is equally effective in mild ischemic stroke (MIS) is controversial. METHODS: In this retrospective study, a total of 177 Chinese patients presenting with MIS (NIHSS ≤8) and LVO between January 2014 and September 2017 from seven comprehensive stroke centers were identified. Odds of good outcome with endovascular thrombectomy versus medical treatment were obtained by logistic regression analysis and propensity-score matching method, and a meta-analysis pooled results from six studies (n = 733). RESULTS: Good outcome (mRS: 0-1) was 58.2% (46/79) in the thrombectomy and 46.9% (46/98) in the medical group, which showed no statistical significance before adjustment (P = 0.13; OR = 1.57, 95% CI: 0.86 to 2.86). The adjusted ORs of thrombectomy versus medical group were 3.23 (95% CI, 1.35 to 7.73; P = 0.008) by multivariable logistic analysis, 2.78 (1.12 to 6.89; P = 0.02) by propensity score matching analysis, and 3.20 (1.22 to 8.37; P = 0.01) by propensity score matching analysis with additional adjustments, respectively. Thrombectomy treatment did not result in excessive mortality or symptomatic intracranial hemorrhage after adjustments. The meta-analysis did not confirm the associations between good outcome and endovascular treatment. CONCLUSIONS: The current study indicates that endovascular thrombectomy is associated with good functional outcome in MIS patients with LVO, and without additional risk of symptomatic intracranial hemorrhage and mortality. Although the meta-analysis failed to demonstrate its superiority compared to medical treatment, randomized clinical trials are needed.


Subject(s)
Brain Ischemia/surgery , Endovascular Procedures/statistics & numerical data , Stroke/surgery , Thrombectomy/statistics & numerical data , Aged , Asian People , Endovascular Procedures/adverse effects , Female , Humans , Intracranial Hemorrhages , Male , Middle Aged , Propensity Score , Retrospective Studies , Thrombectomy/adverse effects , Treatment Outcome
10.
Mol Genet Genomic Med ; 7(7): e00719, 2019 07.
Article in English | MEDLINE | ID: mdl-31124318

ABSTRACT

BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disease and amyotrophic lateral sclerosis. However, the contribution of initial symptoms to the phenotypes of SCA3 has been scarcely investigated. METHODS: In the present study, 143 SCA3 patients from China were recruited and divided into two groups of gait-onset and non-gait-onset. For determining the influences of initial symptoms on age at onset (AAO), the severity and progression of ataxia, and the possible factors affecting the initial symptoms, multivariable linear regression, and multivariate logistic regression were performed. RESULTS: We found that the frequency of gait-onset was 87.41%, and the frequency of non-gait-onset was 12.59% (diplopia: 7.69%, dysarthria: 4.20%, dystonia: 0.70%). Compared to the non-gait-onset group, the gait-onset group had significantly more severe ataxia (p = 0.046), while the initial symptoms had no effect on AAO (p = 0.109) and progression of ataxia (p = 0.265). We failed to find the existence of any factors affecting initial symptoms. CONCLUSION: These findings collectively suggested that initial symptoms influenced phenotypes in SCA3 and that neurodegeneration in different parts of brain may induce different disease severity in SCA3.


Subject(s)
Machado-Joseph Disease/pathology , Adult , Age of Onset , Aged , Female , Gait/physiology , Genotype , Humans , Linear Models , Logistic Models , Machado-Joseph Disease/genetics , Male , Middle Aged , Phenotype , Severity of Illness Index
11.
J Neurointerv Surg ; 11(2): 137-140, 2019 Feb.
Article in English | MEDLINE | ID: mdl-30045947

ABSTRACT

BACKGROUND AND PURPOSE: The aim of the study was to evaluate whether leukoaraiosis severity is associated with outcome in acute stroke patients undergoing mechanical thrombectomy with stent-retriever devices. METHODS: In this retrospective multicenter study, we evaluated 251 acute stroke patients (pretreatment National Institutes of Health Stroke Scale score ≥8) treated with stent-retriever devices. Leukoaraiosis severity was graded as 0-2 (absent-to-moderate) versus 3-4 (severe) according to the van Swieten scale. The main clinical outcome was the proportion of good functional outcome, defined as a modified Rankin Scale of 0-2 at 90 days. RESULTS: Significantly fewer patients in the severe LA group than in the absent-to-moderate LA group achieved a good functional outcome (18.4% vs 50.2%, P<0.001). In multivariable analysis, severe leukoaraiosis was a significant negative predictor of good functional outcome at 90 days (OR, 0.27; 95% CI 0.10-0.77; P=0.014). CONCLUSIONS: The severity of leukoaraiosis is independently associated with 90-day functional outcome in acute stroke patients undergoing mechanical thrombectomy with stent-retriever devices.


Subject(s)
Brain Ischemia/therapy , Leukoaraiosis/therapy , Mechanical Thrombolysis/trends , Severity of Illness Index , Stents , Stroke/therapy , Aged , Aged, 80 and over , Brain Ischemia/diagnostic imaging , Device Removal/methods , Device Removal/trends , Female , Humans , Leukoaraiosis/diagnostic imaging , Male , Mechanical Thrombolysis/methods , Middle Aged , Retrospective Studies , Stroke/diagnostic imaging , Thrombectomy/methods , Thrombectomy/trends , Treatment Outcome
12.
Stroke ; 49(12): 3075-3077, 2018 12.
Article in English | MEDLINE | ID: mdl-30571399

ABSTRACT

Background and Purpose- Acute ischemic stroke caused by cervical artery dissection tend to result in unfavorable outcomes even with appropriate medical treatment. This study evaluated the safety and effectiveness of endovascular thrombectomy in treating acute ischemic stroke associated with cervical artery dissection. Methods- Patients with acute ischemic stroke and with large artery occlusion associated with dissection were selected. Propensity score matching was performed to increase the comparability. Patients with a 90-day modified Rankin Scale score of 0 to 2 were defined as with favorable outcome. Results- Eighty patients with and 80 patients without thrombectomy were enrolled. After propensity score matching, 48 patients with and 48 patients without thrombectomy were matched for further analysis. Proportion of favorable outcome (modified Rankin Scale score of 0-2) was higher in patients with thrombectomy than in those without (66.7% versus 39.6%; P=0.008). There were no significance differences about the incidence of symptomatic intracranial hemorrhage (8.3% versus 4.2%; P=0.677) and the 90-day mortality (10.4% versus 6.3%; P=0.714) between matched patients with and without thrombectomy. Conclusions- Endovascular thrombectomy seems to be an effective treatment in selected patients with acute ischemic stroke associated with cervical artery dissection, but the safety of thrombectomy needs further research.


Subject(s)
Aortic Dissection/surgery , Brain Ischemia/surgery , Endovascular Procedures , Infarction, Middle Cerebral Artery/surgery , Thrombectomy , Adult , Aortic Dissection/complications , Brain Ischemia/etiology , Carotid Artery Diseases/etiology , Carotid Artery Diseases/surgery , Feasibility Studies , Female , Humans , Infarction, Middle Cerebral Artery/etiology , Intracranial Hemorrhages/epidemiology , Male , Middle Aged , Postoperative Hemorrhage/epidemiology , Propensity Score , Stroke/etiology , Stroke/surgery , Treatment Outcome
13.
Eur Neurol ; 79(5-6): 266-271, 2018.
Article in English | MEDLINE | ID: mdl-29763923

ABSTRACT

BACKGROUND: Spinocerebellar ataxia type 3 (SCA3), which is the most common subtype of SCA worldwide, exhibits common neuropsychological symptoms such as depression. However, the contribution of depression to the severity of SCA3 has not yet been thoroughly investigated. METHODS: The present study investigated the prevalence of depression using Beck depression inventory in 104 molecularly confirmed SCA3 patients from China. The putative risk factors for depression and whether the depression could affect the severity of ataxia were established by multivariable linear regression models. RESULTS: The frequency of depression in the study subjects was 57.69% (60/104), which was higher than that in SCA3 patients from a subset of other populations. The gender (p = 0.03) and severity (p < 0.01) of ataxia were those risk factors that could affect depression. Conversely, depression (p < 0.01) together with the duration (p < 0.01) of SCA3 could also play a positive role in the severity of ataxia. CONCLUSIONS: The extremely common depression results from motor disability caused by ataxia; it also affects the disease severity of SCA3. These findings suggested that depression was a part of neurodegeneration in SCA3 and necessitated intensive focus and interventions while caring for SCA3 patients.


Subject(s)
Depression/epidemiology , Depression/etiology , Machado-Joseph Disease/psychology , Adult , China , Female , Humans , Male , Middle Aged , Prevalence , Psychiatric Status Rating Scales
14.
J Neurol Sci ; 390: 111-114, 2018 07 15.
Article in English | MEDLINE | ID: mdl-29801869

ABSTRACT

BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCAs worldwide. SCA3 homozygote is defined as expanded CAG repeats in both alleles that might exhibit severe phenotype due to gene dosage effect. However, a study on the systematic comparison of clinical phenotypes between homozygotes and heterozygotes to indicate these verity of phenotypes of homozygotes is still lacking. METHODS: A total of 14 SCA3 homozygotes (3 Chinese participants and 11 participants from various ethnicity in different published studies) and 143 Chinese heterozygotes of SCA3 were recruited for this study. The 95% confidence intervals (CIs) of age at onset and disease severity expected from heterozygous patients were analyzed to detect the phenotypic differences between homozygotes and heterozygotes. RESULTS: Almost all the homozygotes (13 of 14) were found to present a significant earlier age at onset compared with heterozygotes, because age at onset of most homozygotes was lower than the 95% CIs of age at onset of heterozygotes. Also, the clinical severity in most of the homozygotes (3 of 4) with identified clinical phenotypes was higher than the 95% CIs of severity in heterozygotes, indicating more severe clinical phenotypes in SCA3 homozygotes. CONCLUSIONS: The homozygosity for SCA3 could lead to an earlier age of onset and putative severe clinical features. The findings of the present study suggested an influence of gene dosage on SCA3 phenotypes.


Subject(s)
Homozygote , Machado-Joseph Disease/genetics , Machado-Joseph Disease/physiopathology , Adolescent , Adult , Age of Onset , Child, Preschool , Female , Gene Dosage , Heterozygote , Humans , Machado-Joseph Disease/epidemiology , Male , Phenotype , Severity of Illness Index , Trinucleotide Repeat Expansion
15.
Cerebellum ; 17(4): 494-498, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29476441

ABSTRACT

Spinocerebellar ataxia type 3 (SCA3), the most common subtype of SCA worldwide, is caused by mutation of CAG repeats expansion in ATXN3. Body mass index (BMI) is an important modulatory factor in the progression of neurodegenerative disorders such as Huntington disease and amyotrophic lateral sclerosis. However, its relevance in SCA3 is not well understood. In this study, BMI was investigated in 134 molecularly confirmed SCA3 patients and 136 healthy controls from China. The multivariable linear regression models were performed to establish the putative risk factors for BMI, and whether BMI could affect the severity of ataxia. We found that BMI was significantly lower in the case group than that in the control group. The age at onset (positive correlation) and severity of ataxia (negative correlation) were the risk factors affecting BMI. Conversely, BMI along with the disease duration, the age at onset, and the numbers of CAG repeats could also have influence on the severity of ataxia. In conclusion, SCA3 patients had lower BMI than matched controls and BMI is a predictor of disease progression in SCA3. Nutritional intervention to promote weight gain could be a promising strategy to impede SCA3 progression.


Subject(s)
Body Mass Index , Machado-Joseph Disease/physiopathology , Adolescent , Adult , Age of Onset , Aged , Aged, 80 and over , Female , Humans , Machado-Joseph Disease/diagnosis , Machado-Joseph Disease/epidemiology , Male , Middle Aged , Risk Factors , Severity of Illness Index , Young Adult
16.
PLoS One ; 10(12): e0144301, 2015.
Article in English | MEDLINE | ID: mdl-26641254

ABSTRACT

BACKGROUND: Polymorphisms of the brain-derived neurotrophic factor (BDNF) have been investigated as candidate genes for post-stroke depression (PSD), and its receptor, neurotrophic tyrosine kinase receptor B (TrkB), has been associated with depression. However, no further data have yet reported the association between PSD and polymorphisms in TrkB. This study aims to investigate whether a relationship exists between TrkB polymorphisms and PSD. METHODS: A total of 312 depression patients (PSD patients) and 472 non-depression patient controls (NPSD patients) were recruited. All patients were evaluated using the Hamilton Rating Scale for Depression (HAMD) to determine depression severity, and PSD patients were diagnosed in accordance with DSM-V criteria. Three single-nucleotide polymorphisms (SNPs), namely, rs1187323, rs1212171, and rs1778929, in the TrkB gene were genotyped by high-resolution melt analysis. RESULTS: The SNP rs1778929 was significantly more associated with incident PSD in participants with the TT genotype than in those with CC (OR 0.482, 95% CI: 0.313-0.744). In terms of rs1187323, stroke was significantly more associated with incident depression in participants with the AC genotype than in those with AA (OR 0.500, 95% CI: 0.368-0.680). The minor allele (T) of rs1778929 (P = 0.024, OR = 0.725, 95% CI = 0.590-0.890) and the minor allele (C) of rs1187323 (P = 0.000, OR = 0.598, 95% CI = 0.466-0.767) were found to be significantly associated with PSD. Neither genotype nor allele frequencies of rs1212171 showed statistically significant differences between PSD and NPSD patients. CONCLUSIONS: The results suggest that rs1778929 and rs1187323 in the TrkB gene are significantly associated with post-stroke depression in the Chinese population. Further studies are necessary to confirm our findings.


Subject(s)
Depression/genetics , Membrane Glycoproteins/genetics , Polymorphism, Single Nucleotide , Protein-Tyrosine Kinases/genetics , Stroke/psychology , Aged , Asian People/genetics , Case-Control Studies , China , Depression/epidemiology , Depression/etiology , Female , Gene Frequency , Genetic Predisposition to Disease , Haplotypes , Humans , Male , Middle Aged , Receptor, trkB , Stroke/complications
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