The clinical features in Chinese patients with PRNP D178N mutation

2018 ◽  
Vol 138 (2) ◽  
pp. 151-155 ◽  
Author(s):  
S. Chen ◽  
S. He ◽  
X.-H. Shi ◽  
X.-J. Shen ◽  
K.-K. Liang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Chinese Patients ◽  
D178n Mutation

Clinical Features and Prognosis of Adult-onset Still’s Disease: 61 Cases from China

2009 ◽  
Vol 36 (5) ◽  
pp. 1026-1031 ◽  
Author(s):  
TING ZENG ◽  
YU-QIONG ZOU ◽  
MEI-FANG WU ◽  
CHENG-DE YANG
Keyword(s):  
Prognostic Factors ◽  
Clinical Features ◽  
Chinese Patients ◽  
Adult Onset Still’S Disease ◽  
Disease Course ◽  
Adult Onset ◽  
Still’S Disease ◽  
Laboratory Findings ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Objective.To describe the onset, clinical features, prognostic factors, and treatment of adult-onset Still’s disease (AOSD) in cases from China.Methods.Sixty-one Chinese patients with AOSD were analyzed retrospectively.Results.Common clinical features were fever (100.0%), rash (88.5%), and arthritis (82.0%). The laboratory findings were as follows: leukocytosis (83.6%), increased erythrocyte sedimentation rate (100.0%), elevated transaminase concentrations (23.0%), elevated ferritin levels (79.6%), negative antinuclear antibody (88.5%), and negative rheumatoid factor (88.5%). Of the 61 patients, 44.3% exhibited a monocyclic disease pattern, 29.5% experienced disease relapse at least once, 16.4% exhibited chronic articular course, and 9.8% died; most deaths were due to pulmonary infection and respiratory failure. Based on the disease course, we divided the 61 patients into 2 groups: those with favorable outcome (cyclic disease course, n = 45) and unfavorable outcome (chronic disease course or death, n = 16). We analyzed the prognostic factors for the 2 groups, and found that pleuritis, interstitial pneumonia, elevated ferritin levels, and failure of fever to subside after 3 days of prednisolone at 1 mg/kg/day were unfavorable prognostic factors for patients with AOSD.Conclusion.Patients with AOSD had complex symptoms with no specific laboratory findings. Our results indicate that AOSD is not a relatively benign disease, especially in cases that are refractory to high doses of prednisone.

Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations

2014 ◽  
Vol 36 (8) ◽  
pp. 676-681 ◽  
Author(s):  
Xiaojing Xu ◽  
Yuehua Zhang ◽  
Huihui Sun ◽  
Xiaoyan Liu ◽  
Xiaoling Yang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Dravet Syndrome ◽  
Chinese Patients

scholarly journals EGFR Mutations in Surgically Resected Fresh Specimens from 697 Consecutive Chinese Patients with Non-Small Cell Lung Cancer and Their Relationships with Clinical Features

2013 ◽  
Vol 14 (12) ◽  
pp. 24549-24559 ◽  
Author(s):  
Yuanyang Lai ◽  
Zhipei Zhang ◽  
Jianzhong Li ◽  
Dong Sun ◽  
Yong'an Zhou ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Small Cell Lung Cancer ◽  
Clinical Features ◽  
Cell Lung Cancer ◽  
Small Cell ◽  
Chinese Patients ◽  
Egfr Mutations ◽  
Small Cell Lung

Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome

2016 ◽  
Vol 54 (6) ◽  
pp. 1059-1063 ◽  
Author(s):  
Jie Song ◽  
Sushan Luo ◽  
Xin Cheng ◽  
Dongyue Yue ◽  
Wenhua Zhu ◽  
...  
Keyword(s):  
Clinical Features ◽  
Exercise Test ◽  
Chinese Patients

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants

2015 ◽  
Vol 11 (4) ◽  
pp. 358-365 ◽  
Author(s):  
Lian-Shu Han ◽  
Zhuo Huang ◽  
Feng Han ◽  
Jun Ye ◽  
Wen-Juan Qiu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Features ◽  
Methylmalonic Acidemia ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Allelic Variants ◽  
Mut Gene

scholarly journals Comparison of Clinical Features between Primary Aldosteronism and Essential Hypertension in Chinese Patients: A Case-Control Study

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Xiaoyu Huang ◽  
Shuang Yu ◽  
Huangmeng Xiao ◽  
Ling Pei ◽  
Yan Chen ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Insulin Secretion ◽  
Clinical Features ◽  
Primary Aldosteronism ◽  
Structural Damage ◽  
Case Control ◽  
Secondary Hypertension ◽  
Left Ventricular ◽  
Chinese Patients ◽  
Significant Difference

Primary aldosteronism (PA) is one of the most common forms of secondary hypertension. Recent studies suggest that, compared with essential hypertension (EH), PA presents more severe disorders of glycolipid metabolism and organ damages. This case-control retrospective study aimed to ascertain clinical features and metabolic parameters between Chinese patients of PA and EH. 174 PA patients and 174 matched EH patients were recruited. Their clinical features, biochemistry parameters, the ventricular septal thickness, and left ventricular mass index (LVMI) were compared. HOMA-β% and HOMA-IR were calculated to evaluate glucose metabolism. The results showed that there was no significant difference regarding BMI, waist-to-hip ratio, and blood pressure between the two groups. The blood potassium level was significantly lower in PA patients than those in EH patients. The abnormal glucose tolerance and the incidence of diabetes in the PA group were not significantly different from those in EH group, but the insulin secretion levels at 0 min and 30 min were significantly weaker than those in the EH group, and the HOMA-β% was also lower in the PA group than those in the EH group. Left ventricular structural abnormalities in PA patients were more severe than those in EH patients. Subtype analysis indicated that patient with aldosterone-producing adenoma (APA) has more serious hypokalemia and lower levels of HOMA-β% and HOMA-IR comparing to those in the idiopathic adrenal hyperplasia (IHA) patient. These findings demonstrated that PA patients showed more impaired insulin secretion function and more severe left ventricular structural damage compared with EH patients.

Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

2013 ◽  
Vol 37 (3) ◽  
pp. 399-404 ◽  
Author(s):  
Jianying Xi ◽  
Bing Wen ◽  
Jie Lin ◽  
Wenhua Zhu ◽  
Sushan Luo ◽  
...  
Keyword(s):  
Clinical Features ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Mutation Spectrum ◽  
Chinese Patients

scholarly journals Clinical Features and Cytokine Profile in Myositis Patients with Anti-EJ Autoantibodies Detected by a Novel Immunoprecipitation Assay

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Yang Yang ◽  
Yangtengyu Liu ◽  
Li Huang ◽  
Li Wang ◽  
Ke Liu ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Clinical Features ◽  
Serum Levels ◽  
Trna Synthetase ◽  
Cytokine Profile ◽  
Chinese Patients ◽  
The Novel ◽  
Skin Involvement ◽  
Immunoprecipitation Assay ◽  
Disease Remission

Objective. This study aimed to clarify the clinical features, the serum level of autoantibodies, and cytokine of myositis patients with anti-EJ antibody, which targets glycyl tRNA-synthetase (GlyRS). Methods. Sera of 236 Chinese patients with myositis were screened for anti-EJ by a novel immunoprecipitation assay of flag-tagged GlyRS. Anti-EJ positive patients are evaluated for the clinical features and cytokine profile. Results. The sera from 4 of 236 adult myositis patients were found to carry the anti-EJ using established novel immunoprecipitation assay and immunoblotting. The prevalence of anti-EJ in our cohorts is about 1.7%. The decline of anti-EJ level was detected in two patients during disease remission. Interstitial lung disease and muscle weakness, but not skin involvement, are common clinical features of anti-EJ positive patients. Moreover, using a cytokine profile analyses, we found that the serum levels of IP-10, IL-6, MCP-1, and VEGF were significantly elevated in patients with anti-EJ and gradually decreased during disease remission of two patients, whereas IL-8 level was obviously reduced in these patients. Conclusion. The novel immunoprecipitation assay is suitable to detect and monitor the levels of anti-EJ autoantibody. The serum levels of anti-EJ, IP-10, IL-6, MCP-1, and VEGF may be related to disease activity in myositis patients with anti-EJ antibodies.

Primary non-Hodgkin's lymphoma of the nose and nasopharynx: clinical features, tumor immunophenotype, and treatment outcome in 113 patients.

1998 ◽  
Vol 16 (1) ◽  
pp. 70-77 ◽  
Author(s):  
M M Cheung ◽  
J K Chan ◽  
W H Lau ◽  
W Foo ◽  
P T Chan ◽  
...  
Keyword(s):  
Clinical Features ◽  
Survival Rates ◽  
Chinese Patients ◽  
Female Ratio ◽  
Cd56 Expression ◽  
T Lymphomas ◽  
Hodgkin's Lymphomas ◽  
Male To Female ◽  
Disease Free

PURPOSE To study the clinical features and outcome for primary non-Hodgkin's lymphomas of the nose/nasopharynx (NNP-NHLs) according to immunophenotype. PATIENTS AND METHODS One hundred thirteen Chinese patients with primary NNP-NHLs that belonged to the categories E, F, G, or H according to the Working Formulation (WF), with full immunophenotypic data and complete clinical follow-up data, were analyzed in this retrospective study. RESULTS Ninety (79.6%) patients had localized (stage I or II) disease, while 23 (20.4%) had stage III or IV disease. The lymphomas in 51 (45.1%), 24 (21.3%), and 38 (33.6%) patients showed natural killer (NK)/T- (CD56-positive), T-cell, and B-cell immunophenotype, respectively. Seventy-three patients (65.8%) achieved a complete remission, of whom 34 (46.6%) subsequently relapsed. The median follow-up time for those alive was 88 months. The 5-year actuarial disease-free and overall survival rates were 34.4% and 37.9%, respectively. Multivariate analysis showed that only stage and immunophenotype were significant for survival. NK/T lymphomas were distinctive among the three immunophenotypes in the following aspects: the highest male-to-female ratio, more frequent involvement of the nasal cavity alone, higher risk of dissemination to the skin, more frequent development of hemophagocytic syndrome, and the worst prognosis (overall median survival, 12.5 months). CONCLUSION The three immunophenotypes studied are shown to exhibit different clinical patterns. Since the NK/T phenotype carries the worst prognosis, patients who present with NNP-NHL should have their tumors analyzed for CD56 expression.

scholarly journals Clinical features and long-term outcomes of moyamoya disease: a single-center experience with 528 cases in China

2015 ◽  
Vol 122 (2) ◽  
pp. 392-399 ◽  
Author(s):  
Xing-ju Liu ◽  
Dong Zhang ◽  
Shuo Wang ◽  
Yuan-li Zhao ◽  
Mario Teo ◽  
...  
Keyword(s):  
Clinical Features ◽  
Moyamoya Disease ◽  
Positive Impact ◽  
Chinese Patients ◽  
Single Center ◽  
Long Term Outcomes ◽  
Kaplan Meier ◽  
Significant Difference ◽  
Revascularization Procedures

OBJECT The aim of this study was to describe the baseline clinical features and long-term outcomes of patients with moyamoya disease (MMD) based on a 25-year period at a single center in China. METHODS  Data obtained in 528 consecutive patients with MMD treated at the authors' hospital from 1984 to 2010 were reviewed retrospectively. Events of transient ischemic attack, new infarction, and hemorrhage were included. The Kaplan-Meier risk of stroke was calculated. RESULTS  The mean (± SD) patient age was 26 ± 13 years (range 2–67 years), and the female/male ratio was 0.9:1. There were 332 cases of ischemia and 196 hemorrhages. Adults had a higher rate of bleeding than children (50.7% vs 14.0%, respectively; p < 0.001). One hundred twenty-two patients were treated conservatively, and 406 patients underwent revascularization procedures. Of 528 patients, 331 (62.7%) had at least 1 year of follow-up (median 39.5 months) and data from these patients were analyzed. Rebleeding and mortality rates in patients with hemorrhagic MMD (n = 104) were higher than in those with ischemic MMD (n = 227) (26.9% vs 2.2% [p < 0.001] and 4.8% vs 0.4% [p < 0.05], respectively). Twenty-five of 60 (41.7%) conservatively treated patients and 8 of 271 (2.9%) surgically treated patients experienced rebleeding events, a difference that was significant in the Kaplan-Meier curve of rebleeding (p < 0.01). An improvement in perfusion was found in 164 of 224 (73.2%) surgically treated patients 1 month after discharge. However, there was no significant difference in the rate of ischemic events in the surgical and conservative groups (18.8% and 28.3%, respectively; p = 0.09). Among the 104 hemorrhagic cases, rebleeding attacks were observed in 25 patients in the nonsurgical group (n = 60) and 3 patients in the surgical group (n = 44) (41.7% and 6.8%, respectively; OR 9.7 [95% CI 2.7–35.0]; p < 0.01). CONCLUSIONS  There was no difference in the sex distribution of Chinese patients with MMD. Patients with hemorrhagic MMD had a much higher rate of rebleeding and poorer prognosis than those with the ischemic type. Surgical revascularization procedures can improve cerebral perfusion and have a positive impact in preventing rebleeding in patients with hemorrhagic MMD.

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