排序方式: 共有40条查询结果,搜索用时 15 毫秒
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Partha Sen Romana Gerychova Petr Janku Marta Jezova Iveta Valaskova Colby Navarro Iris Silva Claire Langston Stephen Welty John Belmont Pawel Stankiewicz 《European journal of human genetics : EJHG》2013,21(4):474-477
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have been reported. We have shown previously that mutations and deletions in FOXF1 are a cause of this disorder. Although most of the cases of ACD/MPV are sporadic, there have been infrequent reports of familial cases. We present a family with five out of six children affected with ACD/MPV. DNA analysis identified a missense mutation (c.416G>T; p.Arg139Leu) in the FOXF1 gene that segregated in the three affected siblings tested. The same variant is also present as a de novo mutation in the mother and arose on her paternally derived chromosome 16. The two tested affected siblings share the same chromosome 16 haplotype inherited from their maternal grandfather. Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human. 相似文献
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Ján Stasko Peter Galajda Jela Ivanková Pavol Holly Eva Rozborilová Peter Kubisz 《Clinical and applied thrombosis/hemostasis》2007,13(4):410-415
In several studies, hemodialysis (HD) patients treated with recombinant human erythropoietin (rHuEPO) because of renal anemia showed increased levels of soluble adhesion molecules. The purpose of the study was to investigate the changes of soluble P-selectin (sSELP) and its relationship to platelet activation during a single HD session in patients with long-term rHuEPO treatment. Fifty-two HD patients with chronic renal failure were involved--26 with rHuEPO treatment (EPO group) and 26 without (non-EPO group). Thirty healthy subjects served as the control group. The sSELP, beta-thromboglobulin, and platelet factor 4 plasma levels were measured before and after a single 4-hour HD session on a cuprophane dialyzer. The basal beta-thromboglobulin and platelet factor 4 plasma levels were significantly increased in both HD groups compared with healthy controls but did not change after a single HD session, except for a significant decrease of platelet factor 4 in the non-EPO group. The predialysis sSELP plasma levels did not differ significantly compared with those of the healthy controls, but there was a significant increase of sSELP levels after a single HD session in both groups (EPO, P < .005; non-EPO, P < .05, respectively). These results suppose that the increased sSELP level was released from platelets during the course of a single HD session. The more significant increase of the sSELP plasma levels in EPO group during HD indicates that platelets are more activated in patients with long-term rHuEPO treatment, and this fact could partially explain the suspected tendency for thrombosis in these patients. 相似文献
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Melichercíková J Brezinová J Zemanová Z Cermák J Michalová K 《Cancer Genetics and Cytogenetics》2007,179(2):150-155
Dedifferentiated liposarcoma of the pleura is an extremely rare malignancy mimicking a variety of tumors, such as other sarcomas, mesothelioma, and malignant solitary fibrous tumor of the pleura. Liposarcoma of the pleura can be combined with mediastinal involvement, and in most cases it may be impossible to be certain where the primary tumor originated. In this report, we describe a very rare occurence of a dedifferentiated liposarcoma of the pleura in a 76-year-old woman associated with a distinct second dedifferentiated liposarcoma of the mediastinum. Histologically, the pleural tumor demonstrated spindle cells arranged in a fascicular pattern, whereas the mediastinal tumor was mostly adipocytic with small areas of spindle cells. Vimentin and protein S100 were focally expressed by the tumor cells. The differential diagnosis of the pleural mass included malignant solitary fibrous tumor. Cytogenetic analysis showed supernumerary ring chromosomes in the pleural tumor, as well as strong amplification of MDM2 and CDK4 genes in both tumors. Array comparative genomic hybridization showed amplifications of chromosome arms 6q, 12q, and 15q, shared by both tumors and strongly pointing to a common origin. 相似文献
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Primary cardiac lymphoma is extremely rare. We present the case of a 70-year-old man with primary cardiac lymphoma involving
interatrial septum, presenting as atrial flutter and total heart block. The diagnosis was obtained by echocardiography-guided
transvenous endocardial biopsy which revealed diffuse large B-cell non-Hodgkin's lymphoma, CD 20+. After six courses of immunochemotherapy
the patient achieved complete remission. After 2 months he developed a series of epileptic attacks. Intracerebral lymphoma
extension was diagnosed. Two cycles of high-dose methotrexate and cranial irradiation were applied, resulting in a second
complete remission. 相似文献
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Peter Kubisz Ján Stasko Miroslava Dobrotová Jela Ivanková Dusan Mesko 《Clinical and applied thrombosis/hemostasis》2005,11(3):331-334
Patients with hemophilia demonstrate quite variable clinical phenotype even in cases with the same level of deficient factor or the same molecular abnormality. Different interacting factors including congenital and acquired alterations of coagulation inhibitors can modulate both clinical expression and severity of hemophilia. In this study, plasma levels of factor VIII (FVIII), factor IX (FIX) as well as protein C (PC), protein S (PS), and antithrombin (AT) plasma levels were measured in 80 patients with severe hemophilia A and B. Patients were divided into two groups according to the risk of bleeding: the first group (n = 32) with mild bleeding (< 2 bleeds/year), and the second group (n = 48) with severe bleeding (> or = 2 bleeds/year). Both hemophilia groups showed significantly decreased PC plasma levels compared to levels in healthy control subjects (the first group: p < 0.0001 and second group: p < 0.01). The difference in PC plasma levels between the first and second hemophilia group was significant (p < 0.05). Moreover, there was positive correlation between age and the functional PC in both hemophilia groups. Our results suggest that decreased PC plasma levels can testify to a slightly protective effect of the PC pathway on the severity and frequency of bleeding in patients with severe hemophilia A and B. 相似文献
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Mikus P Kubacak P Valaskova I Havranek E 《Methods and findings in experimental and clinical pharmacology》2006,28(9):595-599
Charged cyclodextrin-mediated capillary electrophoretic methods (capillary zone electrophoresis [CZE] and isotachophoresis [ITP]) in a hydrodynamically closed separation system with suppressed electroosmotic flow and UV absorbance photometric detection (for CZE) or conductivity detection (for ITP) were developed for a highly effective separation and quantitation of dimethindene enantiomers in various pharmaceutical formulations (solution, gel, capsules). Optimized electrolyte systems were based on low-mobility buffer constituents (epsilon-aminocaproic acid, beta-alanine, potassium acetate, acetic acid), negatively charged (at pH > 4.5) carboxyethyl-beta-cyclodextrin (CE-beta-CD), serving as chiral selector, and methylhydroxyethylcellulose, serving as an electroosmotic flow suppressor. Complete enantioseparations of dimethindene in the presence of low concentrations of CE-beta-CD (2.5 mg/ml in CZE, 6.0 mg/ml in ITP) clearly indicated a role of charge of this chiral selector in enantioresolution. It also outlined the potential of charged CD-derivatives as chiral selectors for various CE techniques. The proposed methods were successfully validated, appraising parameters of sensitivity, linearity, precision, accuracy/recovery, and robustness, and then, they were applied to pharmaceutical samples. Consistent results obtained by both CE methods indicate their usefulness for routine use. 相似文献
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Massive osteolysis in a girl with agenesis of thyroid C cells 总被引:13,自引:0,他引:13
M. Koršić Dražen Jelašić Kristina Potočki Zlatko Giljević Izet Aganović 《Skeletal radiology》1998,27(9):525-528
A rare case of massive osteolysis affecting the pelvis of a young girl is presented. The clinical, radiographic, and histopathological
features are described in detail. Septicemia complicated the clinical course and the patient eventually died. Histopathological
examination of the pelvic lesion revealed massive osteolysis characterized by prominent osteoclastic activity with extensive
bone resorption. A thorough post-mortem histological examination of the thyroid gland showed no C cells. This is an interesting
observation, since it is known that thyroid C cells are the primary source of calcitonin. Since the main biological effect
of calcitonin is to inhibit osteoclastic bone resorption, there is a possibility that massive osteolysis in our case could
have been related to the lack of this hormone. There is a clear need for further investigation regarding the role of thyroid
C cells and calcitonin in this puzzling disease. 相似文献
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Oda W Mistrikova J Stancekova M Dutia BM Nash AA Takahata H Jin Z Oka T Hayashi K 《Pathology international》2005,55(9):558-568
Murine gammaherpesvirus (MHV)-68-infected mice are well-known as models for Epstein-Barr virus (EBV)-related lymphoproliferative diseases. MHV-72 may be a relative of MHV-68, but any genetic comparison between the two (except for the M7 gene) has never been reported. The genetic compositions of MHV-72 and MHV-68 were compared and the pathology of MHV-72 infection studied in CB-17 severe combined immunodeficiency (scid/scid; SCID) and CB17 wild-type (CB17+/+) mice. The MHV-72 DNA sequence was almost identical to MHV-68 except for approximately 7000 bp corresponding to the MHV-68 M1-M3 genes. Twenty-seven of 30 MHV-72-infected SCID mice (90%) died from generalized infection with intranuclear viral inclusions for approximately 1 month, while MHV-72-infected CB17+/+ mice recovered from acute infection. Long observation and pathological study of 68 MHV-72-infected mice for up to 24 months revealed that the survival rate (29.4%) and survival time (21.3 months) of MHV-72-infected CB17+/+ mice were significantly lower (P = 0.0127) and shorter (P = 0.0065) than those of the controls (61.1% and 22.9 months), respectively. The malignancy development rate (60.3%) of the infected CB17+/+ mice was also significantly higher (P = 0.004) than those of the controls (22.2%). However, no MHV-72 DNA was detected in the tumors of infected mice. MHV-72 may have some tumor-promoting effects but the tumorigenesis in infected CB17+/+ mice is different from EBV-associated tumors. 相似文献
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Children with cow milk allergy are suspected to develop calcium metabolism disturbances. We observed increased markers of bone turnover in these children. Children with cow milk allergy are more prone to develop the disturbances of the bone mineralization even in the first year of life. 相似文献