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ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures:A case report and review of literature

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World Journal of Clinical Cases 2021年第29期9卷 8789-8796页

作者： Wen-Xian Yang Hang-Hu Zhang Jia-Ni Hu Li Zhao Yan-Yun Li Xiao-Li Shao Department of Pediatrics Shaoxing University School of MedicineShaoxing 312000Zhejiang ProvinceChina Department of Pediatrics Shaoxing Peoples’HospitalThe First Affiliated Hospital of Shaoxing UniversityShaoxing 312000Zhejiang ProvinceChina Department of Radiology Shaoxing Peoples’HospitalThe First Affiliated Hospital of Shaoxing UniversityShaoxing 312000Zhejiang ProvinceChina

BACKGROUND ACTA2 gene is a specific gene that encodes actinα*** smooth muscle dysfunction syndrome(MSMDS)is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene *** have been many reports of cardiac,pulmonary and cerebrovascular lesions caused by MSMDS;however,few studies have focused on seizures caused by *** SUMMARY Our patient was a girl aged 7 years and 8 mo with recurrent cough,asthma and seizures for 7 *** was diagnosed with severe pneumonia,congenital heart disease,cardiac insufficiency,and malnutrition in the local *** ultrasonography revealed congenital heart disease,patent ductus arteriosus(with a diameter of 0.68 cm),left coronary arteriectasis,patent oval foramen(0.12 cm),tricuspid and pulmonary regurgitation,and pulmonary *** magnetic resonance imaging and magnetic resonance angiography indicated stiffness in the brain vessels,together with multiple aberrant signaling shadows in bilateral paraventricular regions.A heterozygous mutation(c.536G>A)was identified in the ACTA2 gene,resulting in generation of ***,the girl was diagnosed with MSMDS combined with *** patient had 4 episodes of seizures before treatment,and no onset of seizure was reported after oral administration of sodium valproate for 1 *** MSMDS has a variety of clinical manifestations and unique cranial imaging *** injury and white matter injury may lead to *** detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.

关键词： Multi-systemic smooth muscle dysfunction syndrome ACTA2 gene Seizures gene detection Case report

Comparison of Hematological Parameters and Critical Value Analysis in the Prevention and Control of Thalassaemia in Hainan Li and Han Nationalities

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Open Journal of Blood Diseases 2021年第2期11卷 46-56页

作者： Junjie Hu Xinping Chen Xiaojuan Li Weihua Xu Shengmiao Fu Department of Central Laboratory Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University Hainan Provincial Key Laboratory for Cell and Molecular Genetic Translational Medicine Haikou China

Objective: To compare the distribution of “mean corpuscular hemoglobin”-MCV, “mean corpuscular volume”-MCH, “hemoglobin”-HGB, “hemoglobin A”-HbA and “hemoglobin A2”-HbA2 in α and β thalassemia hematology screening between Li and Han nationality, and analyze the best diagnostic cut-off value. Methods: Select 7816 middle school students from Li nationality area as the research object, collect peripheral blood for blood cell analysis, hemoglobin electrophoresis and thalassaemia gene detection, and compare the difference in hematological parameters of common thalassemia genotype between Li and Han nationalities. Taking the genetic test results as the gold standard, construct the receiver operator characteristic curve (ROC curve) of relevant hematology parameters, calculate the Youden index and take its maximum diagnostic cut-off point as the best critical value. Results: Comparison of hematological parameters of common thalassemia genotypes showed that the average value of MCH and MCV of -α3.7/-α

The diagnosis and treatment process of one clinical case of juvenile glycogen storage disease in current medical model in china

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TMR Theory and Hypothesis 2018年第4期1卷 123-127页

作者： Li-Yuan Zhang Xiao-Shuang Hou Yan Huang Ruo-Bao Li Department of oncology Weifang Medical University Weifang China Department of endocrinology Weifang Medical UniversityWeifang China Department of oncology Affiliated Hospital of Weifang Medical Unikeyversity Weifang China Department of anatomy Weifang Medical University Weifang China

Glycogen storage disease type Ⅱ, also known as Pompe disease (PD), is a kind of congenital metabolic myopathy, the cause of this disease is the barrier of glycogen disintegration due to the shortage of acid alpha-1,4-glucosidase enzyme. The prevalence of PD ranges between 1:40,000 and 1:300,000 and is dependent on ethnic and geographical factors. The main clinical manifestation of this myopathy is the injury of muscle organization. According to the difference in age and developmental speed, we can divide this disease into three types: the infantile type, the juvenile type and the adult type, and the latter two types are called the late onset type. Because the symptom of the late onset form is not typical, the mutual mixture of the late onset type and some chronic myopathy always takes place, which can even cause evade diagnosis and misdiagnosis, thus it is supposed to be highly focused on. At present, there is a shortage of effective therapeutic methods to cope with this myopathy all over the world. The following part is a report about the clinical data and the rehabilitation intervention of a patient who caught the juvenile type of GSD-Ⅱ, which is combined to home and abroad literatures, the purpose of this report is to help enhance clinical physicians’ cognition of this disease in the future therapy. At the same time, we combine with the current medical mode and system in China to reflect on the prevention and treatment of such diseases.

关键词： Pompe disease Enzyme activity detection gene detection

Development of Array-based Technology for detection of HAV Using Gold-DNA Probes

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Development of Array-based Technology for Detection of HAV U...