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41.
Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2 总被引:2,自引:4,他引:2
Ho CY; Otterud B; Legare RD; Varvil T; Saxena R; DeHart DB; Kohler SE; Aster JC; Dowton SB; Li FP; Leppert M; Gilliland DG 《Blood》1996,87(12):5218-5224
Linkage analysis was performed on a large pedigree with an autosomal dominant platelet disorder and a striking propensity in affected family members to develop hematologic malignancy, predominantly acute myelogenous leukemia. We report the linkage of the autosomal dominant platelet disorder to markers on chromosome 21q22. Four genetic markers completely cosegregate with the trait and yield maximum logarithm of difference scores ranging from 4.9 to 10.5 (theta = .001). Two flanking markers, D21S1265 and D21S167, define a critical region for the disease locus of 15.2 centimorgan. Further analysis of this locus may identify a gene product that affects platelet production and function and contributes to the molecular evolution of hematologic malignancy. 相似文献
42.
Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency 总被引:14,自引:0,他引:14
Homocysteine can be methylated to form methionine by the cobalamin- (Cbl) and folate-dependent enzyme, methionine synthase; serum levels of total homocysteine are elevated in greater than 95% of patients with either Cbl or folate deficiency. Homocysteine can also condense with serine to form cystathionine in a pyridoxal phosphate-dependent reaction catalyzed by cystathionine beta-synthase. Cystathionine is subsequently cleaved to cysteine and alpha-ketobutyrate by the pyridoxal phosphate-dependent enzyme gamma-cystathionase. To assess levels of cystathionine in Cbl and folate deficiency, we developed a new capillary gas chromatographic-mass spectrometric assay and measured cystathionine in the serum of normal subjects and patients with clinically confirmed deficiencies of these vitamins. The normal range for serum cystathionine was 65 to 301 nmol/L (median = 126 nmol/L) for 50 normal blood donors. In 30 patients with clinically confirmed Cbl deficiency, values for cystathionine ranged from 208 nmol/L to 2,920 nmol/L (median = 816 nmol/L) and 26 (87%) had levels above the normal range. In 20 patients with clinically confirmed folate deficiency, cystathionine concentrations ranged from 138 nmol/L to 4,150 nmol/L (median = 1,560 nmol/L) and 19 (95%) had values above the normal range. Five homozygotes for cystathionine beta-synthase deficiency had high values for serum-total homocysteine and low or low-normal values for serum cystathionine that ranged from 30 nmol/L to 114 nmol/L even though they were on treatment with pyridoxine and had partially responded. One patient with a defect in the synthesis of 5-CH3- tetrahydrofolate and five patients with defects in the synthesis of CH3- Cbl had high values for serum-total homocysteine and high values for cystathionine that ranged from 311 nmol/L to 1,500 nmol/L even though they were on treatment with folic acid and Cbl, respectively, and had partially responded. We conclude that levels of cystathionine are evaluated in the serum of most patients with Cbl and folate deficiency and that they are useful in the differential diagnosis of an elevated serum-total homocysteine level. 相似文献
43.
44.
Congenital heart lesions involving the right ventricular outflow tract (RVOT) are a common problem in paediatric cardiology. These patients need multiple surgical interventions in the form of valved conduits over a lifetime. Surgical re-valvulation was the standard treatment option until the introduction of percutaneous pulmonary valves over a decade ago. These valves can be used to prolong the lifespan of conduits and reduce the number of re-operations. The Melody® valve (Medtronic, Minneapolis, MN, USA) was introduced as the first dedicated percutaneous pulmonary valve. Percutaneous pulmonary valves can be implanted successfully and have the advantage of short hospitalisations. We describe the first three Melody® valve implantations in Africa. 相似文献
45.
Stromal cell-associated erythropoiesis 总被引:5,自引:0,他引:5
A novel cover slip-transfer culture system was designed to study the functional roles of stromal cells in hemopoiesis, particularly erythropoiesis. Human bone marrow stromal cell colonies were allowed to develop on small glass cover slips in liquid medium. The cover slips, along with the stromal cell colonies and progenitors attached to them were then transferred to a new tissue culture dish and overlaid with methylcellulose culture medium. No exogenous colony-stimulating factors except erythropoietin were supplied. Large erythroid bursts, comprising multiple subcolonies, developed on the stromal cells. In order to determine if stromal fibroblasts together with erythropoietin and serum proteins could support erythroid development, human bone marrow cells depleted of monocytes, macrophages, and T lymphocytes were allowed to adhere to monolayers of a homogeneous fibroblastoid human stromal cell strain ST-1 grown on cover slips. The cover slips were then washed to remove nonadherent cells, transferred to a new culture dish, and overlaid with methylcellulose culture medium containing fetal calf serum and erythropoietin. In this modified system as well, primitive erythroid progenitors migrated extensively on and within the stroma to form huge colonies of hemoglobinized erythroblasts that proceeded to enucleate. Our results indicate that (1) ST-1 cells together with serum proteins and erythropoietin can support the development of large erythroid bursts; (2) erythroid progenitors and precursors adhere to and migrate on and within the extracellular matrix elaborated by ST-1 cells; (3) erythroid progenitors are more adherent to the ST-1 cells or the extracellular matrix than are the more mature cells and possibly the myeloid progenitors. 相似文献
46.
Monocyte antigen CD14 is a phospholipid anchored membrane protein 总被引:30,自引:1,他引:30
A cDNA clone encoding the human monocyte antigen CD14 was isolated by transient expression in COS cells of a cDNA library prepared from phorbol diester-treated HL60 cells. RNA blot analysis showed abundant expression of a single mRNA species in mature monocytes and an increased expression of the mRNA following induction of differentiation in leukemic cell lines. The DNA blot hybridization pattern was consistent with a single-copy gene. The predicted amino acid sequence lacks the characteristic transmembrane domain and stop transfer motif of conventionally anchored membrane proteins. COS cells transfected with the CD14 cDNA released virtually all CD14 protein in soluble form following treatment with glycosyl phosphatidylinositol-specific phospholipase C, and CD14 immunoreactivity was absent from the affected monocytes of a patient with paroxysmal nocturnal hemoglobinuria (PNH). The data show that, to the limit of experimental sensitivity, all monocyte CD14 is joined to the plasma membrane by a phosphatidylinositol phospholipid. 相似文献
47.
BACKGROUND & AIMS: Microvascular endothelial cells mediate leukocyte homing, angiogenesis, and inflammation and healing and show tissue- specific adhesion molecules and functions. The activation of human intestinal mucosal microvascular endothelial cells (HIMECs) was studied in vitro to uncover possible abnormalities associated with inflammatory bowel disease. METHODS: HIMECs were isolated from normal and inflammatory bowel disease mucosa and assessed for phenotypic and morphological features, proliferative response, leukocyte binding capacity, and adhesion molecule expression. RESULTS: Basal proliferation by HIMECs was less than that of human umbilical vein endothelial cells (HUVECs) but increased proportionally more in response to vascular endothelial growth factor. Proinflammatory stimuli induced an activated, spindle-shaped morphology in HIMEC monolayers. Compared with HUVECs, unstimulated HIMECs showed less adhesiveness for U937 and MOLT4 cells and neutrophils, but cytokines and lipopolysaccharide substantially increased the binding capacity of HIMECs. HIMECs derived from inflammatory bowel disease mucosa showed a markedly greater leukocyte-binding capacity than normal mucosal HIMECs. Patterns of intercellular adhesion molecule 1, vascular cell adhesion molecule 1 and E-selectin messenger RNA expression were distinct in HIMECs, HUVECs, and mucosal mesenchymal cells. CONCLUSIONS: HIMECs represent differentiated endothelial cells with unique functional properties. Their dramatically enhanced capacity to bind leukocytes in inflammatory bowel disease suggests that HIMECs play an important role in initiating or maintaining inflammation. (Gastroenterology 1997 Jun;112(6):1895-907) 相似文献
48.
JE Barberie DG Connell PL Munk DL Janzen 《Journal of Medical Imaging and Radiation Oncology》1999,43(3):355-357
Muscle and nerve injuries in the hand may be difficult to detect and diagnose clinically. Two cases are reported in which magnetic resonance imaging showed ulnar nerve injury and intrinsic hand muscle denervation. The clinical, anatomical and radiological features of injury to the deep motor branch of the ulnar nerve and associated muscle denervation are discussed and illustrated. 相似文献
49.
Mafee MF; Peyman GA; Grisolano JE; Fletcher ME; Spigos DG; Wehrli FW; Rasouli F; Capek V 《Radiology》1986,160(3):773-780
Twenty-one patients with intraocular disease were studied by magnetic resonance (MR) imaging and computed tomography (CT). In 13 cases, malignant uveal melanoma was considered the likely diagnosis. Both imaging methods were accurate in determining the location and size of uveal melanomas. MR imaging was superior for the assessment of possible associated retinal detachment, for assessment of vitreous change, and for differentiating uveal melanoma from choroidal hemangioma and choroidal detachment. A case of retinal gliosis could not be differentiated from uveal melanoma by either technique. Uveal melanomas appeared as hyperintense lesions on T1-weighted images and as hypointense lesions on T2-weighted images. High signal intensity of the vitreous was observed in patients with vitritis and in those who were thought to have protein leaking into the vitreous as a result of impairment of the retinal-blood barrier. 相似文献
50.
Brachial plexus: demonstration at US 总被引:5,自引:0,他引:5