Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients

2014 ◽  
Vol 59 (5) ◽  
pp. 256-261 ◽  
Author(s):  
Min Zhu ◽  
Xuan Zhu ◽  
Xueliang Qi ◽  
Ding Weijiang ◽  
Yajing Yu ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Patients ◽  
Mainland Chinese

Developing a nomogram for predicting intravesical recurrence after radical nephroureterectomy: a retrospective cohort study of mainland Chinese patients

2021 ◽  
Author(s):  
Shicong Lai ◽  
Xingbo Long ◽  
Pengjie Wu ◽  
Jianyong Liu ◽  
Samuel Seery ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Cox Regression ◽  
Upper Tract Urothelial Carcinoma ◽  
Chinese Patients ◽  
Clinicopathological Parameters ◽  
Radical Nephroureterectomy ◽  
Ki 67 ◽  
Data Set ◽  
Mainland Chinese ◽  
Upper Tract

Abstract Objective To evaluate the role of Ki-67 in predicting subsequent intravesical recurrence following radical nephroureterectomy and to develop a predictive nomogram for upper tract urothelial carcinoma patients. Methods This retrospective analysis involved 489 upper tract urothelial carcinoma patients who underwent radical nephroureterectomy with bladder cuff excision. The data set was randomly split into a training cohort of 293 patients and a validation cohort of 196 patients. Immunohistochemical analysis was used to assess the immunoreactivity of the biomarker Ki-67 in the tumor tissues. A multivariable Cox regression model was utilized to identify independent intravesical recurrence predictors after radical nephroureterectomy before constructing a nomographic model. Predictive accuracy was quantified using time-dependent receiver operating characteristic curve. Decision curve analysis was performed to evaluate the clinical benefit of models. Results With a median follow-up of 54 months, intravesical recurrence developed in 28.2% of this sample (n = 137). Tumor location, multifocality, pathological T stage, surgical approach, bladder cancer history and Ki-67 expression levels were independently associated with intravesical recurrence (all P < 0.05). The full model, which intercalated Ki-67 with traditional clinicopathological parameters, outperformed both the basic model and Xylinas’ model in terms of discriminative capacity (all P < 0.05). Decision-making analysis suggests that the more comprehensive model can also improve patients’ net benefit. Conclusions This new model, which intercalates the Ki-67 biomarker with traditional clinicopathological factors, appears to be more sensitive than nomograms previously tested across mainland Chinese populations. The findings suggest that Ki-67 could be useful for determining risk-stratified surveillance protocols following radical nephroureterectomy and in generating an individualized strategy based around intravesical recurrence predictions.

scholarly journals Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 336
Author(s):  
Guo-Min Yang ◽  
Rou-Min Wang ◽  
Nan Xia ◽  
Zi-Wei Zheng ◽  
Yi Dong ◽  
...  
Keyword(s):  
Geographical Distribution ◽  
Founder Effect ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Specific Distribution ◽  
The Common

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify whether the founder effect may account for their origins. We firstly summarized the frequency and geographical distribution of p.R778L, p.P992L and p.T935M in 715 WD patients. Then, to construct haplotypes associated with the three variants, Sanger sequencing and microsatellite typing at three dinucleotide-repeat markers (D13S314, D13S301, D13S316) flanking the ATP7B gene were performed in 102 WD families. An obvious regional-specific distribution feature was found in p.T935M. Linkage disequilibrium at the three markers was shown in all the three variants and we found the common haplotypes specific for p.R778L, p.P992L and p.T935M respectively, represented successively by 10-7-7, 10-9-5 and 12-4-8, which all exhibited great significance vs. the control chromosomes (p < 0.01). Meanwhile, haplotypes for the three variants differed from the studies in other regions to some extent. The common haplotypes we found indicate that three prevalent pathogenic variants emerge due to the founder effect. Furthermore, the study contributes to expand our knowledge of the genetic diversity of WD from a cross-regional perspective.

scholarly journals The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis

BMC Neurology ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Xiaobing Li ◽  
Sheng Yao ◽  
Yining Xiang ◽  
Xiaolei Zhang ◽  
Xiangbing Wu ◽  
...  
Keyword(s):  
Periodic Paralysis ◽  
Chinese Patients ◽  
Thyrotoxic Periodic Paralysis ◽  
Mainland Chinese ◽  
Genetic Features

Five mutations of ATP2A2 gene in Chinese patients with Darier’s disease and a literature review of 86 cases reported in China

2006 ◽  
Vol 298 (2) ◽  
pp. 58-63 ◽  
Author(s):  
Yun-Qing Ren ◽  
Min Gao ◽  
Yan-Hua Liang ◽  
Yan-Xia Hou ◽  
Pei-Guang Wang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Patients ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Atp2a2 Gene

Cerebral sparganosis in mainland Chinese patients

2013 ◽  
Vol 20 (11) ◽  
pp. 1514-1519 ◽  
Author(s):  
Daojun Hong ◽  
Huiqun Xie ◽  
Min Zhu ◽  
Hui Wan ◽  
Renshi Xu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Mainland Chinese ◽  
Cerebral Sparganosis

Low-dose imatinib in the treatment of severe systemic sclerosis: a case series of six Chinese patients and literature review

2012 ◽  
Vol 31 (9) ◽  
pp. 1395-1400 ◽  
Author(s):  
Li Guo ◽  
Xiao-xiang Chen ◽  
Yue-ying Gu ◽  
He-jian Zou ◽  
Shuang Ye
Keyword(s):  
Systemic Sclerosis ◽  
Literature Review ◽  
Low Dose ◽  
Case Series ◽  
Chinese Patients

Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China

2006 ◽  
Vol 155 (5) ◽  
pp. 1070-1073 ◽  
Author(s):  
X.Y. Zhao ◽  
S. Yang ◽  
H.L. Zhou ◽  
Y.G. Zhu ◽  
L. Wei ◽  
...  
Keyword(s):  
Literature Review ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Chinese Patients

HLA-A, B and HLA-DR phenotypes in Mainland Chinese patients with diabetes mellitus

2008 ◽  
Vol 22 (1) ◽  
pp. 92-95 ◽  
Author(s):  
T. D LEE ◽  
T ZHAO ◽  
Z CHI ◽  
H WONG ◽  
M SHEN ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Chinese Patients ◽  
Mainland Chinese ◽  
Hla Dr ◽  
Patients With Diabetes
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