Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For this article, the literature on the pathophysiology, clinical features, natural history, prognosis, and management of the Eisenmenger syndrome in adults was reviewed. English-language articles from 1966 to the present were identified through a search of the MEDLINE database by using the terms Eisenmenger, congenital heart disease, and pulmonary hypertension. Selected cross-referenced articles were also included. Articles on the pathophysiology, clinical presentation, evaluation, natural history, complications, and treatment of the Eisenmenger syndrome in adults were selected, and descriptive and analytical data relevant to the practicing physician were manually extracted. The Eisenmenger syndrome is characterized by elevated pulmonary vascular resistance and right-to-left shunting of blood through a systemic-to-pulmonary circulation connection. Most patients with the syndrome survive for 20 to 30 years. The hemostatic changes associated with the syndrome may lead to thromboembolic events, cerebrovascular complications, or the hyperviscosity syndrome. Erythrocytosis is present in most patients, but excessive phlebotomy may cause microcytosis and exacerbate the symptoms of hyperviscosity. Other complications associated with the Eisenmenger syndrome include hemoptysis, gout, cholelithiasis, hypertrophic osteoarthropathy, and decreased renal function. Pregnancy or noncardiac surgery is associated with a high mortality rate in patients with the Eisenmenger syndrome. Because most pediatric patients with the Eisenmenger syndrome survive to adulthood, primary care physicians should have a thorough understanding of the syndrome; its associated complications; and medical and surgical management, especially with regard to the appropriate timing of phlebotomy and lung or heart-lung transplantation. In addition, patients with the syndrome should undergo routine follow-up at a tertiary care center that has physicians and nurses with special expertise in congenital heart disease. In patients with the Eisenmenger syndrome who are pregnant or require noncardiac surgery, a multidisciplinary approach should be used to reduce the excessive mortality associated with these conditions.
 ...
PMID:The Eisenmenger syndrome in adults. 955 69

Type 1a glycogen storage disease (GSD 1a), or von Gierke disease, is a rare, autosomal-recessive disease caused by a deficiency of glucose-6-phosphatase, which leads to glycogen accumulation in the liver, kidney, and intestinal mucosa. Clinical manifestations include hypoglycemia, growth retardation, hepatomegaly, lactic acidemia, hyperlipidemia, and hyperuricemia. Long-term complications include renal disease, gout, osteoporosis, pulmonary hypertension, short stature, and hepatocellular adenomas, which may undergo malignant transformation. Herein we have described the management and the clinical course of a GSD1a patient who underwent simultaneous preemptive liver- kidney transplantation (SPLKT), which solved the liver and renal disease. We confirmed the rapid normalization of glucose metabolism, and correction of hyperlipemia after liver transplantation. In our opinion uremic patients with GSD 1a with or without adenomas must be considered for SPLKT. To our knowledge this is the fifth case of SPLKT and the first preemptive one to be described in the literature.
 ...
PMID:Preemptive liver-kidney transplantation in von Gierke disease: a case report. 2162 87

Glycogen storage disease (GSD) type Ia is caused by a deficiency in glucose-6-phosphatase. Long-term complications, including renal disease, gout, osteoporosis and pulmonary hypertension, develop in patients with GSD type Ia. In the second or third decade, 22-75% of GSD type Ia patients develop hepatocellular adenoma (HCA). In some of these patients, the HCA evolves into hepatocellular carcinoma. However, little is known about GSD type Ia patients with HCA who develop cholangiocellular carcinoma (CCC). Here, we report for the first time, a patient with GSD type Ia with HCA, in whom intrahepatic CCC was developed.
...
PMID:Case of cholangiocellular carcinoma in a patient with glycogen storage disease type Ia. 2490 94

This review introduces the history of development, organizational structure, funding resources, data collection, and quality control of the Chinese Rheumatism Data Center (CRDC) and summarizes the collection of data. In 2009, Peking Union Medical College Hospital (PUMCH), together with several rheumatism centers, established the Chinese Systemic Lupus Erythematosus (SLE) Treatment and Research Group (CSTAR) to collect data on Chinese patients for the study of SLE disease characteristics. In 2011, CSTAR was extended with the formation of the CRDC at PUMCH with direction from the National Health and Family Planning Commission of the PRC. The CRDC currently includes 300 registration sites and 50 regional sites that have successively begun to collect data on 12 rheumatic diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), ankylosing spondylitis (AS), systemic sclerosis, dermatomyositis, Takayasu arteritis, IgG4-related diseases, ANCA-associated vasculitis, gout, polyarteritis nodosa, unclassified systemic vasculitis, and Behcet disease. To date, 17,224 patients have been enrolled in the CRDC. Based on the SLE patients registered in the CRDC, papers investigating basic demographic characteristics and first symptom in Chinese SLE patients, risk factors of pulmonary hypertension, correlations between autoantibodies and clinical manifestations, and factors related to fetal loss have been published. The CRDC is a national registry that provides real-life data to improve clinical decision-making. At the same time, without additional work for the clinician, the CRDC is a powerful research database. The CRDC database provides sufficient information for Chinese clinical studies on rheumatology. Moreover, a mobile device application ensures convenient and efficient data collection without compromising data quality, thereby providing strong evidence-based data for the diagnosis and treatment of Chinese rheumatic patients.
...
PMID:CRDC: a Chinese rheumatology research platform. 2616 Feb 65