Contingent triple-screening for Down syndrome in the second trimester: a feasibility study in Mainland Chinese population

2009 ◽  
Vol 30 (1) ◽  
pp. 74-76 ◽  
Author(s):  
Zhenwei Xie ◽  
Shiming Lu ◽  
Hui Li
Keyword(s):  
Down Syndrome ◽  
Feasibility Study ◽  
Chinese Population ◽  
Second Trimester ◽  
Mainland Chinese ◽  
Mainland Chinese Population

scholarly journals The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population

Brain ◽  
2020 ◽  
Vol 143 (7) ◽  
pp. 2220-2234 ◽  
Author(s):  
Yuwen Zhao ◽  
Lixia Qin ◽  
Hongxu Pan ◽  
Zhenhua Liu ◽  
Li Jiang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Age At Onset ◽  
Mainland China ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Disease Associated Genes ◽  
Mainland Chinese Population

Abstract This study aimed to determine the mutational spectrum of familial Parkinson’s disease and sporadic early-onset Parkinson’s disease (sEOPD) in a mainland Chinese population and the clinical features of mutation carriers. We performed multiplex ligation-dependent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with Parkinson’s disease in a mainland Chinese population, including 192 probands from families with autosomal-recessive Parkinson’s disease, 242 probands from families with autosomal-dominant Parkinson’s disease, and 1242 sEOPD patients (age at onset ≤ 50). According to standards and guidelines from the American College of Medical Genetics and Genomics, pathogenic/likely pathogenic variants in 23 known Parkinson’s disease-associated genes occurred more frequently in the autosomal-recessive Parkinson’s disease cohort (65 of 192, 33.85%) than in the autosomal-dominant Parkinson’s disease cohort (10 of 242, 4.13%) and the sEOPD cohort (57 of 1242, 4.59%), which leads to an overall molecular diagnostic yield of 7.88% (132 of 1676). We found that PRKN was the most frequently mutated gene (n = 83, 4.95%) and present the first evidence of an SNCA duplication and LRRK2 p.N1437D variant in mainland China. In addition, several novel pathogenic/likely pathogenic variants including LRRK2 (p.V1447M and p.Y1645S), ATP13A2 (p.R735X and p.A819D), FBXO7 (p.G67E), LRP10 (c.322dupC/p.G109Rfs*51) and TMEM230 (c.429delT/p.P144Qfs*2) were identified in our cohort. Furthermore, the age at onset of the 132 probands with genetic diagnoses (median, 31.5 years) was about 14.5 years earlier than that of patients without molecular diagnoses (i.e. non-carriers, median 46.0 years). Specifically, the age at onset of Parkinson’s disease patients with pathogenic/likely pathogenic variants in ATP13A2, PLA2G6, PRKN, or PINK1 was significantly lower than that of non-carriers, while the age at onset of carriers with other gene pathogenic/likely pathogenic variants was similar to that of non-carriers. The clinical spectrum of Parkinson’s disease-associated gene carriers in this mainland Chinese population was similar to that of other populations. We also detected 61 probands with GBA possibly pathogenic variants (3.64%) and 59 probands with GBA p.L444P (3.52%). These results shed insight into the genetic spectrum and clinical manifestations of Parkinson’s disease in mainland China and expand the existing repertoire of pathogenic or likely pathogenic variants involved in known Parkinson’s disease-associated genes. Our data highlight the importance of genetic testing in Parkinson’s disease patients with age at onset < 40 years, especially in those from families with a recessive inheritance pattern, who may benefit from early diagnosis and treatment.

Post-trauma growth in a mainland Chinese population with chronic skin disease

2013 ◽  
Vol 53 (4) ◽  
pp. 450-457 ◽  
Author(s):  
Jianxia Zhai ◽  
Ying Huang ◽  
Xudong Gao ◽  
Hong Jiang ◽  
Jinhua Xu
Keyword(s):  
Skin Disease ◽  
Chinese Population ◽  
Mainland Chinese ◽  
Chronic Skin ◽  
Mainland Chinese Population ◽  
Chronic Skin Disease

scholarly journals Clinical Outcomes of FP-7/8 Ahmed Glaucoma Valves in the Management of Refractory Glaucoma in the Mainland Chinese Population

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0127658 ◽  
Author(s):  
Yingting Zhu ◽  
Yantao Wei ◽  
Xuejiao Yang ◽  
Shuifeng Deng ◽  
Zuohong Li ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Chinese Population ◽  
Refractory Glaucoma ◽  
Mainland Chinese ◽  
Mainland Chinese Population

Adapting the Pyramids and Palm Trees Test and the Kissing and Dancing Test and developing other semantic tests for the Chinese population

2013 ◽  
Vol 35 (6) ◽  
pp. 1001-1019 ◽  
Author(s):  
QIHAO GUO ◽  
CHENXI HE ◽  
XIAOLIANG WEN ◽  
LUPING SONG ◽  
ZAIZHU HAN ◽  
...  
Keyword(s):  
Chinese Population ◽  
Normative Data ◽  
Semantic Knowledge ◽  
Culturally Appropriate ◽  
Behavioral Deficits ◽  
Mainland Chinese ◽  
Types Of Knowledge ◽  
Palm Trees ◽  
Mainland Chinese Population ◽  
Healthy Participants

ABSTRACTThe semantic system is a core component underlying many cognitive functions, and its deterioration can lead to various behavioral deficits. The Pyramids and Palm Trees Test (Howard & Patterson, 1992) and the Kissing and Dancing Test (Bak & Hodges, 2003) are among the most widely used semantic assessments, and they have been adapted into many languages and for many populations. We adapted these tests to the Mainland Chinese population by adopting culturally appropriate items and collecting normative data in healthy Chinese participants. In addition, accumulating research has shown that semantic representations have multidimensional structures that include various types of knowledge, and in the Pyramids and Palm Trees Test mainly evaluates associative relationships. Therefore, we developed additional tests to examine three other aspects of semantic knowledge: taxonomic, functional, and manipulative. We found significant correlations among all tests in healthy participants. Moreover, the level of education and age affected performance on the tests of associative relationships, taxonomic relationships, and manipulation similarity.

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