Letter to the editor: Primary cardiac rhabdomyosarcoma

WOS: 000173435400022PubMed ID: 1181319

A Case of Marden-Walker Syndrome With Dandy-Walker Malformation

WOS: A1995QZ19800011PubMed ID: 7543036A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging

Lymphocyte Subsets and Plasma Il-1-Alpha, Il-2, and Tnf-Alpha Concentrations In Acute Rheumatic-Fever and Chronic Rheumatic Heart-Disease

WOS: A1995TB22800007PubMed ID: 7586724The distribution of CD3(+), CD4(+), CD8(+), CD19(+), CD16(+), and CD25(+) lymphocyte populations in peripheral blood as well as the plasma concentrations of interleukin-1 alpha (IL-1 alpha), and IL-2 and tumor necrosis factor alpha (TNF-alpha) were investigated in 25 children with acute rheumatic fever (ARF) at the time of admission and after 3 months and in 15 children with chronic rheumatic heart disease (CRHD) and in 15 children with streptoccocal pharyngitis (SP) in order to determine changes in lymphocyte subsets and cytokine concentrations occurring during different stages of the disease. The percentages and absolute counts of CD4(+), CD16(+), CD25(+) cells, the ratio of CD4/CD8 and plasma concentrations of IL-1 alpha and IL-2 in patients with ARF were significantly higher at admission than 3 months later. These levels were also significantly higher than in patients with CRHD, SP, or normal controls. Production of IL-2 in ARF and CRHD patients directly correlated with the percentages of CD4(+) and CD25(+) cells. According to our results, the evidences of increased cellular immune response in ARF are increased percentages CD4(+) and CD25(+) cells, CD4/CD8 ratio, and increased plasma concentrations of IL-1 alpha and IL-2. Furthermore, activation of cellular immune response was not present throughout all stages of rheumatic heart disease and also in SP. (C) 1995 Academic Press, Inc

Williams-Syndrome and Subaortic Stenosis

WOS: A1993ME54900013PubMed ID: 826165

No mutation in the SLC2A2 (GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome

WOS: 000182761800016PubMed ID: 12700970Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl who developed characteristic findings of FBS. However, no mutation was detected in the protein-coding region of the SLC2A2 gene. Therefore, we propose that further molecular analysis is needed to determine whether other genes are involved in FBS