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  • Author: Hao Xue x
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Sirui Yang, Weihong Xu, Shibo Li, Shicheng Liu, Honghua Lu, Xiaosheng Hao, Feiyong Jia and Guiling Xue

Abstract

Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy.

Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family.

Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3).

Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3.

Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.

Open access

Qiaozhi Wang, Hao Xue, Fengjun Li, Dongwon Lee and Bo Luo

Abstract

With the growing popularity of online social networks, a large amount of private or sensitive information has been posted online. In particular, studies show that users sometimes reveal too much information or unintentionally release regretful messages, especially when they are careless, emotional, or unaware of privacy risks. As such, there exist great needs to be able to identify potentially-sensitive online contents, so that users could be alerted with such findings. In this paper, we propose a context-aware, text-based quantitative model for private information assessment, namely PrivScore, which is expected to serve as the foundation of a privacy leakage alerting mechanism. We first solicit diverse opinions on the sensitiveness of private information from crowdsourcing workers, and examine the responses to discover a perceptual model behind the consensuses and disagreements. We then develop a computational scheme using deep neural networks to compute a context-free PrivScore (i.e., the “consensus” privacy score among average users). Finally, we integrate tweet histories, topic preferences and social contexts to generate a personalized context-aware PrivScore. This privacy scoring mechanism could be employed to identify potentially-private messages and alert users to think again before posting them to OSNs.

Open access

Qi Huang, Xue-Feng Sun, Hong-Li Lin, Zhi-Min Zhang, Li-Rong Hao, Li Yao, Ji-Jun Li, De-Long Zhao, Yong Wang, Han-Yu Zhu and Xiang-Mei Chen

Abstract

Objective: The objective was to increase the understanding of vascular access in hemodialysis and evaluate hemodialysis-related anticoagulation treatments and the associated hemorrhagic or thrombotic complications. Materials and Methods: In this study, an epidemiological investigation was conducted in 1175 patients who underwent hemodialysis in seven blood purification centers in northern Chinese. The patients were divided into two groups based on the vascular access they used: Arteriovenous fistula (AVF) group and central venous catheter (CVC) group. The similarities and differences of anticoagulation and hemorrhagic, thrombotic complications were compared between two groups. Results: Arteriovenous fistula was the most frequently used vascular access, and heparin was the most commonly used anticoagulant. Patients in CVC group experienced significantly greater rates of low molecular weight heparin (LMWH) administration and had a higher rate in achieving thrombotic complications than those in AVF group. There were no significant differences in LMWH dosages in patients with thrombotic complications, as well as the proportion of patients who received anti-platelet drugs. Heparinized catheter lock solutions were excessively high in this study, which may lead to a risk of hemorrhage. Conclusion: Hemodialysis-related anticoagulation treatments in China require additional improvements, especially for the patients using CVC as vascular access. There is an urgent need to develop clinical evaluation studies of anticoagulation treatments for achieving more standardized and targeted treatments.