VEXAS Syndrome

What does VEXAS mean? ; V · - vacuoles are often seen in cells identified in bone marrow biopsies from patients with VEXAS syndrome. ; E · - E1 ubiquitin activating enzyme, encoded by the UBA1 gene which is mutated in patients. ; X · - the UBA1 gene is located on the X chromosome.

[논문]Glutathione S-Transferase (GST) 유전자 다형성과 항정신병약물로 유발된 하지불안증후군의 연관 연구

목 적 : 하지불안증후군(restless legs syndrome ; RLS)의 병인은 아직 불명확하지만, 유전적 질환으로 알려져 있다. 산화스트레스는 RLS, 지연성운동장애, 파킨슨병, 뚜렛장애 등의 운동장애에서 주요한 원인 중의 하나로 생각되고 있다. 본 연구에서는 조현병환자에서 항정신병약물에 의해 유발된 RLS 증상이 산화손상의 해독효소인 glutathione S-transferase (GST) 유전자의 다형성과 연관이 있는...

상대정맥증후군(上大靜脈症候群-Superior vena cava syndrome, SVC)

상대정맥(上大靜脈-Superior vena cava )은 상반신(上半身-upper body)의 혈액을 심장으로 빠져나가게 하는 큰정맥(large vein)이 된다. 이 정맥에 압박(壓迫-compression)이나 폐색(閉塞-occlusion)이 있게 되면서...

Malignancy-related superior vena cava syndrome

INTRODUCTION · Superior vena cava (SVC) syndrome results from any condition that leads to obstruction of blood flow through the SVC. Malignant obstruction can be caused by direct invasion of tumor into the SVC, or by external compression of the SVC by an adjacent pathologic process involving the right lung, lymph nodes, and other mediastinal structures, leading to stagnation of flow and thrombosis [1-4]. In some cases, both external compression and thrombosis coexist. In addition, patients wit...

NAVER 학술정보 > Protein S deficiency, activated protein C resistance and sticky pla

BACKGROUND Coagulation disorders are common in young adults (age less than 55 years) with ischemic stroke. OBJECTIVES To describe a young woman with bilateral strokes of undetermined etiology who h...

Long QT syndrome

(U.S.) [6] Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a heartbeat, giving rise to an abnormally lengthy QT interval. [7] It results in an...

[PDF] Diagnosis and treatment of movement system impairment syndromes

Semantic Scholar extracted view of "Diagnosis and treatment of movement system impairment syndromes" by S. Sahrmann et al.

Staphylococcal Scalded Skin Syndrome - StatPearls - NCBI Bookshelf

Staphylococcal scalded skin syndrome (SSSS), also known as Ritter disease or pemphigus neonatorum, is a dangerous cutaneous infection caused by certain exotoxin-producing strains of Staphylococcus...

Frey's syndrome

^ a b c Prattico F, Perfetti P (July 2006). "Images in clinical medicine. Frey's syndrome". The New England Journal of... 29310 v t e Oral and maxillofacial pathology Lips Cheilitis Actinic...

Horner's syndrome

Find sources: "Horner's syndrome" – news · newspapers · books · scholar · JSTOR ( February 2022 ) (Learn how and when to remove this message ) Horner's syndrome Other names Bernard...