Regulatory Mechanism and Function of Endoglin in Angiogenesis / 中国生物化学与分子生物学报

The formation of new blood vessels and homeostasis are important to ensure the normal physiological activities of cells. The blood vessel formation is strictly regulated by many factors for the stabilities and functions of internal environment and immune systems. Endoglin (ENG), a type I transmembrane glycoprotein mainly expressed on endothelial cells, plays an important role in angiogenesis and homeostasis by acting as a co⁃receptor of transforming growth factor β family. With more and more proteins interacting with ENG have been uncovered, such as matrix metalloproteinase 14 (MMP14), integrin, leucine⁃rich alpha⁃2⁃glycoprotein⁃1 (LRG1) and GAIP interacting protein C⁃terminus (GIPC), many new research progresses in molecular mechanism of ENG have been developing recently. However, the exquisite regulatory network between these proteins remains to be explored and combed. Understanding the characteristics of these proteins, their influences in signal transduction and their contribution to angiogenesis under patho⁃physiological conditions will be helpful for the development of novel therapeutics. This review summarized the interactions between ENG and TGF⁃β or non⁃TGF⁃β family associated proteins in regulating angiogenesis. We also proposed some suggestions for future study on ENG allowing us to better understand the mechanisms of ENG⁃associated diseases.

Gene identification in a family of hereditary hemorrhagic telangiectasia / 中华血液学杂志

Objective@#To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. @*Methods@#A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger. @*Results@#9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation: c.1502-1503insGG (p.Gly501GlyfsX18) , and mutations in ACVRL1 and SMAD4 genes were not detected. @*Conclusion@#The frameshift mutation c.1502-1503insGG (p.Gly501GlyfsX18) of the ENG gene is the genetic basis for the pathogenesis of this HHT family.

Gene identification in a family of hereditary hemorrhagic telangiectasia / 中华血液学杂志

Objective: To study the mutation of ENG, ACVRL1, and SMAD4 genes in one of a family of hereditary hemorrhagic telangiectasia (HHT) and explore its molecular pathogenesis. Methods: A family spectrum of a patient with a clinical diagnosis of HHT was surveyed. Peripheral blood samples from proband and their eldest were collected, and ENG, ACVRL1 and SMAD4 gene analysis was performed by chip capture high-throughput sequencing. The mutation detected was verified by Sanger. Results: 9 of the 71 family members were diagnosed with HHT with the main manifestation of recurrent nasal bleeding. Genetic analysis showed that the proband and the eldest son of ENG gene exon 9 frameshift mutation: c.1502-1503insGG (p.Gly501GlyfsX18) , and mutations in ACVRL1 and SMAD4 genes were not detected. Conclusion: The frameshift mutation c.1502-1503insGG (p.Gly501GlyfsX18) of the ENG gene is the genetic basis for the pathogenesis of this HHT family.

Genetics in heritable pulmonary arterial hypertension / 대한내과학회지

Pulmonary arterial hypertension is caused by vascular remodeling including muscularization of arteries, loss of small precapillary arteries, and formation of neointima and plexiform lesion, resulting in a progressive increase in pulmonary vascular resistance. About 70% of heritable pulmonary arterial hypertension and 10% to 40% of idiopathic pulmonary arterial hypertension patients possess mutations in bone morphogenetic protein receptor, type 2 (BMPR2), which is a type II receptor of TGF-beta superfamily. Very rarely, mutations in another receptors of TGF-beta superfamily, activin-like kinase-type 1 (ALK1) and endoglin (ENG) are found in pulmonary arterial hypertension patients with hereditary hemorrhagic telangiectasia. Genetic screening is useful to identify family members who are mutation carriers in heritable pulmonary arterial hypertension families.

Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that is characterized by abnormal communication between the arteries and veins in the skin, mucosa, and various organs. HHT has been reported to show significant phenotypic variability and genetic heterogeneity with wide ethnic and geographic variations. Although mutations in the endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes have been known to cause HHT for more than 10 yr, little is known about the clinical features or genetic background of Korean patients with HHT. In addition, mutations in mothers against decapentaplegic homolog 4 (SMAD4) are also seen in patients with the combined syndrome of juvenile polyposis and HHT. This study examined five Korean patients with the typical manifestations of HHT such as frequent epistaxis and pulmonary arteriovenous malformations. Direct sequencing of the ENG and ACVRL1 genes revealed one known mutation, ENG c.277C>T, in one patient and two novel mutations, ENG c.992-1G>C and ACVRL1 c.81dupT in two patients, respectively. The remaining two patients with negative results were screened for SMAD4 mutations as well as gross deletions of ENG and ACVRL1 using multiple ligation-dependent probe amplification, but none was detected. Despite the small number of patients investigated, we firstly report Korean patients with genetically confirmed HHT, and show the genetic and allelic heterogeneity underlying HHT.

Alternation of Saccadic System in Patients with Parkinson's Disease(review) / 中国康复理论与实践

@#The saccadic movement of patients with Parkinson's disease was abnormal and might be related to the severity of the disease.The abnormal saccadic movement was not related to the symptoms of Parkinson's disease directly,the accesses of controlling limbs' and eyes' movement are comparatively independent.

Study of the eye movements system of the patients with vertebral-basilar insufficiency / 中国康复理论与实践

@# ObjectiveTo investigate the characteristic and the function of the eye movements system of the patients with vertebral-basilar insufficiency (VBI).Methods83 patients with VBI and 57 healthy controls were tested with electronystagmogram instrument,include saccade test, Eye Tracking Test (ETT) and optokinetic test(OKN).Results and ConclusionDelay lower accuracy of saccade test, decreased gain of OKN, asymmetry of horizontal ETT were showed in the patients with VBI.

Advances in repair of compound tissue defects of limbs / 中华创伤骨科杂志

It is a clinically tough problem to repair compound tissue d efects of limbs. Application of microsurgical technique with autologous pedicel or free tissue grafts has saved numerous invalid limbs with tissue defects, and is still an essential method to restore compound tissue defects of limbs and res love effectively many difficult problems, such as larger solf tissue defects,seg mental bone defects, bone-skin compound defect, and etc. Microsurgical repair i n emergency has special value in treating compound tissue defects of hand. Altho ugh the resource of autologous tissue graft as donator is limited, tissue engine ering and gene technology hold the promise of revolutionary advances in repairin g compound tissue defects of limbs. Because of the achievements made in the fiel ds of trauma repair and tissue regeneration, both structure and function will be hopefully restored.

Evaluation of Compensation in Peripheral Vestibulopathy / 대한이비인후과학회지

The initial severe and disabling symptoms of vestibular dysfunction diminish gradually by a process of compensation. Although the process is complex and not fully understood, knowledge of the extent of compensation makes physicians to identify the causes and to determine treatment choices of the dysfunction. In this report we present 2 common cases of peripheral vestibulopathy that result from different disease processes, and review the physiologic and functional changes as the compensation proceeds that can be evaluated by vestibular function tests including electronystagmography(ENG), rotation chair, and dynamic posturography. These tests are valuable tools in the assessment of the degree of compensation as well as the side and site of lesions in vestibulopathy.

The Effect of Acupuncture Therapy on Abnormal Eye Movement in Wallenberg's Syndrome / 全日本鍼灸学会雑誌

INTRODUCTION<br>There have been very few reports on the effects of acupuncture on abnormal eye movements often seen in patients with central vertigo. Recently we had the opportunity to apply acupuncture to a case of Wallenberg's syndrome, which displays a peculiar nystagmus and vertigo. This case is reported because the effectiveness of acupuncture in improving the eye movement was proved by the electronystagmography (ENG) in collaboration with the Nihon University School of Medicine.<br>CASE REPORT<br>Patient: A 47 year old man. Diagnosis: Wallenberg's syndrome. Chief Complaint: Vertigo. Present Illness: In Nov. 1980, the patient noticed a loss of pain and temperature sense in his right limb, followed by vertigo. He was admitted to the Nihon Univ. Hospital in Dec. 1980. CT-examination of the whole body, a vertebral arteriogram, etc. indicated a circulatory failure in the left lateral area of the medulla oblongata.<br>In Mar. 1981, the patient visited our clinic with the chief complaint of vertigo. Present Condition: He complained of rotary vertigo. The orthostatic test was positive with both opened and closed eyes. A decrease in the pain and temperature sense on the right side of the body, except for the head, was observed.<br>COURSE<br>Acupuncture was applied to the posterior region of the neck, the back, and the lateral of the lower extremity in order to relax the muscles of these parts. After acupuncture the patient reported a decrease in his vertigo. After the twentieth session of acupuncture the symptoms improved to the extent that he could go out alone. After the twenty-second session, he returned to work. Although his vertigo and nystagmus did not completely disappear, an obvious improvement in these symptoms was seen after each session, and this improved condition remained for two or three days. With the ENG recorded before, shortly after, and 30min. after a session of acupuncture therapy, a decrease in abnormal eye movement after the session was confirmed.<br>CONCLUSION<br>Acupuncture therapy was applied to a case of Wallenberg's syndrome.<br>Result:<br>1. A short-term decrease in vertigo was observed.<br>2. A decrease in abnormal eye movement after acupuncture therapy was confirmed by electronystagmography.