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Nair S Li J Mitchell WB Mohanty D Coller BS French DL 《Thrombosis and haemostasis》2002,88(3):503-509
New mutations in the beta3 integrin subunit have been identified in two unrelated Glanzmann thrombasthenia patients originating from India and Bangladesh. Both patients had histories of excessive bleeding and were found to have Glanzmann thrombasthenia based on absent ADP-induced platelet aggregation. Immunoblotting of platelet lysates of Patient 1 demonstrated reduced levels of alphaIIb and an unexpected high Mr beta3 band of approximately 260,000, with little or no normal-sized beta3. Upon reduction, a weak beta3 band of normal Mr was observed. Platelet lysates of Patient 2 demonstrated undetectable levels of beta3. Sequence analyses identified homozygous mutations in the beta3 genes of both patients. Patient 1 had a C506Y missense mutation resulting in the expression of an unpaired cysteine; we propose that the Mr approximately 260,000 band is a disulfide-bonded beta3 dimer. Patient 2 had an insertion mutation resulting in a frameshift and premature termination. Both mutations affect biogenesis of platelet alphaIIbbeta3 receptors. 相似文献
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Boutin-Foster C Euster S Rolon Y Motal A BeLue R Kline R Charlson ME 《Health & social work》2005,30(2):117-125
Early identification of patients who need a social work evaluation is integral to effective discharge planning. This article describes the development and application of the Social Work Admission Assessment Tool (SWAAT), a six-item scale that identifies patients with complicated discharge needs who require a social work evaluation. It addresses ambulation, mental status, living situation, current social services, self-perceived need for additional services, and need for assistance in going home. Based on their scores, patients are categorized as having low, intermediate, or high need. A greater proportion of high-need patients were discharged with services and had prolonged hospitalizations (p = .0001). The SWAAT is a comprehensive needs assessment tool that may facilitate discharge planning and improve quality of care. 相似文献
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Sieglová Z Zilovcová S Cermák J Ríhová H Brezinová D Dvoráková R Marková M Maaloufová J Sajdová J Brezinová J Zemanová Z Michalová K 《Leukemia research》2004,28(10):1013-1021
Telomere length was evaluated by terminal repeat fragment method (TRF) in 50 patients with myelodysplastic syndromes (MDS) and acute myelogenous leukemia (AML) arising from MDS and in 21 patients with untreated primary AML to ascertain, whether telomere erosion was associated with progression of MDS towards overt leukemia. Heterogeneity of TRF among MDS FAB subgroups (P=0.004) originated from its shortening in increased number of patients during progression of the disease. Chromosomal aberrations were present in 32% MDS patients with more eroded telomeres (P=0.022), nevertheless a difference between mean TRF in the subgroups with normal and abnormal karyotype diminished during progression of MDS. A negative correlation between individual TRF and IPSS value (P=0.039) showed that telomere dynamics might serve as a useful prognostic factor for assessment of an individual MDS patient's risk and for decision of an optimal treatment strategy. 相似文献
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Hromadnikova I Houbova B Hridelova D Voslarova S Calda P Nekolarova K Kofer J Stejskal D Doucha J Cinek O Vavrirec J 《BMC pregnancy and childbirth》2002,2(1):4-5
BACKGROUND: We investigated fetal and total DNA levels in maternal plasma in patients bearing fetuses affected with Down syndrome in comparison to controls carrying fetuses with normal karyotype. METHODS: DNA levels in maternal plasma were measured using real-time quantitative PCR using SRY and beta-globin genes as markers. Twenty-one pregnant women with a singleton fetus at a gestational age ranging from 15 to 19 weeks recruited before amniocentesis (carried out for reasons including material serum screening and advanced material age), and 16 pregnant women bearing fetuses affected with Down syndrome between 17 to 22 weeks of gestation were involved in the study. RESULTS: The specificity of the system reaches 100% (no Y signal was detected in 14 women pregnant with female fetuses) and the sensitivity 91.7% (SRY amplification in 22 of 24 examined samples). The median fetal DNA levels in women carrying Down syndrome (n=11) and the controls (n=13) were 23.3 (range 0-58.5) genome-equivalents/ml and 24.5 (range 0-47.5) genome-equivalents/ml of maternal plasma, respectively (P = 0.62). The total median DNA levels in pregnancies with Down syndrome and the controls were 10165 (range 615-65000) genome-equivalents/ml and 7330 (range 1300-36750) genome-equivalents/ml, respectively (P = 0.32). The fetal DNA proportion in maternal plasma was 0%-6 % (mean 0.8%) in women carrying Down syndrome and 0%-2.6 % (mean 0.7 %) in the controls, respectively (P=0.86). CONCLUSIONS: Our study revealed no difference in fetal DNA levels and fetal DNA: maternal DNA ratio between the patients carrying Down syndrome fetuses and the controls. 相似文献
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The use of capnography has expanded over recent years. Currently, capnography is used in a variety of acute care settings. This article describes what capnography is and how it is used. The normal and abnormal capnogram or waveforms are described to assist in identifying various clinical situations. The multiplicity of clinical indications include detection of pulmonary embolism as well as malpositioned endotracheal/tracheal, gastric, and small bowel tubes. Capnography also provides clinicians with information regarding expiratory breathing patterns and assists in perfusion assessments such as those for cardiopulmonary resuscitation. Finally, case studies are provided to help the reader apply the concepts of capnography to a variety of acute care settings. 相似文献
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Marie Bicíková Jaroslava Tallová Sona Stanická Martin Hill Karel Vondra Richard Hampl 《Clinical chemistry and laboratory medicine》2002,40(10):1024-1027
Hypothyroidism is very often associated with cardiovascular diseases and neurological complications. Recently, homocysteine has been studied as an independent risk factor for atherosclerosis which negatively affects vascular endothelial cells. Because homocysteine metabolism is related to thyroid and steroid hormones, we studied these relationships in severe hypothyroidism and in euthyroid state. Homocysteine, testosterone and allopregnanolone concentrations were measured in the fasting plasma from 16 women who underwent total thyroidectomy, and who were either hypothyroid or euthyroid. Although all women used oral contraceptives, they were not protected against hyperhomocysteinemia during hypothyroid state. With the normalization of thyroid hormone concentrations homocysteine levels decreased to normal levels. There was a positive correlation between testosterone and homocysteine in the euthyroid state which suggests that not only estrogens but also androgen state should be considered in future studies on homocysteine. 相似文献