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排序方式: 共有1054条查询结果,搜索用时 531 毫秒
61.
Manor E Shubinsky G Moser AM Gurevitch D Chatach F Yermiahu T Kapelushnik J 《Cancer Genetics and Cytogenetics》2003,147(2):110-114
Here we describe a cytogenetic and flow-cytometric study of a case in which a conversion of childhood acute lymphocytic leukemia (ALL) into juvenile myelomonocytic leukemia (JMML) occurred. A 3-year-old boy diagnosed CALLA+, pre-B-ALL with double t(12;21) (by fluorescence in situ hybridization analysis), was treated as per the BFM protocol. A cytogenetic analysis performed at 17 months into treatment showed no t(12;21) in bone marrow (BM) cells; however, a novel translocation, namely, t(4;11), involving the p12 locus on chromosome 4 and the MLL gene at 11q23 was detected in monocytes. No cytogenetic abnormalities were found either in Epstein-Barr virus-transformed B cells or in phytohemagglutinin-stimulated T-lymphoid cells. Flow-cytometric analysis demonstrated an asynchronous expression of the antigenic determinants in populations of granulocytic and monocytoid cells: 60% of monocytes expressed low levels of CD14, an unusually high level of CD15, and no CD13 or HLA-DR antigens; 74% of myeloid cells expressed no CD13. Our results indicate that the transformation from B-cell ALL to JMML in this case occurred most probably in the granulocyte-erythroid-macrophage-megakaryocyte progenitor cells without involving the lymphoid cell line. To date, the child is 10 months off therapy and asymptomatic, with t(4;11) in only 3% of the cells. 相似文献
62.
Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine. 相似文献
63.
Lambolez F Azogui O Joret AM Garcia C von Boehmer H Di Santo J Ezine S Rocha B 《The Journal of experimental medicine》2002,195(4):437-449
Gut intraepithelial CD8 T lymphocytes (T-IEL) are distinct from thymus-derived cells and are thought to derive locally from cryptopatch (CP) precursors. The intermediate stages of differentiation between CP and mature T-IEL were not identified, and the local differentiation process was not characterized. We identified and characterized six phenotypically distinct lineage-negative populations in the CP and the gut epithelium: (a) we determined the kinetics of their generation from bone marrow precursors; (b) we quantified CD3-epsilon, recombination activating gene (Rag)-1, and pre-Talpha mRNAs expression at single cell level; (c) we characterized TCR-beta, -gamma, and -alpha locus rearrangements; and (d) we studied the impact of different mutations on the local differentiation. These data allowed us to establish a sequence of T cell precursor differentiation in the gut. We also observed that the gut differentiation varied from that of the thymus by a very low frequency of pre-Talpha chain mRNA expression, a different kinetics of Rag-1 mRNA expression, and a much higher impact of CD3 epsilon/delta and pre-Talpha deficiencies. Finally, only 3% of CP cells were clearly involved in T cell differentiation, suggesting that these structures may have additional physiological roles in the gut. 相似文献
64.
Agbaria R Manor E Barak J Balzarini J 《Journal of acquired immune deficiency syndromes (1999)》2003,32(5):477-481
The present study compared the phosphorylation rate of 3'-azidothymidine (AZT) in isolated maternal and fetal peripheral blood mononuclear cells (PBMCs) with that in amniocytes obtained during gestation and at term. Maternal PBMCs were isolated from venous blood samples obtained from HIV-seronegative pregnant women during delivery. Immediately after delivery, cord blood specimens were collected, and fetal PBMCs were isolated. In a separate set of experiments, maternal and fetal PBMCs and amniocytes were obtained at 17-21 weeks of gestation. The fresh isolated PBMCs and amniocytes were maintained in RPMI 1640 medium until incubation with 10 microM tritiated AZT (10 microCi/mL). Thereafter, methanolic cell extracts were prepared for determination of AZT phosphates by high-performance liquid chromatography. Fetal PBMCs can efficiently convert AZT to its antivirally active metabolite. There were no significant differences after 6 or 12 hours of incubation with AZT between AZT phosphate levels in maternal and fetal PBMCs isolated at term or at 17-21 weeks of gestation: AZT monophosphate was found to be the major metabolite (about 95%). AZT phosphate levels in the amniocytes were up to sevenfold higher than those in the maternal or fetal PBMCs. These results show that during pregnancy and at term, fetal PBMCs-like maternal PBMCs-are able to take up AZT and to efficiently generate the active metabolite AZT triphosphate. These results are of major significance both in enabling efficient treatment of the fetuses of HIV-infected women and in the prediction and understanding of the efficacy and toxicity of AZT in pregnant women and their fetuses. 相似文献
65.
Basel-Vanagaite L Marcus N Klinger G Shohat M Levit O Karmazin B Taub E Sirota L 《American journal of medical genetics. Part A》2003,(2):200-206
We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes. MRI revealed a diffuse simplified gyral pattern with apparent agyria over the frontal lobes. Biochemical screening gave normal results. Her older sister had bilateral renal pelvic dilatation on prenatal ultrasound. She also developed severe convulsions on the first day of life, and she had to be artificially ventilated for 38 days. She had severe developmental retardation and neurological examination showed absence of spontaneous movements and Moro reflex, weak sucking reflex, and hypertonicity. CT scan of the brain showed a simplified gyral pattern. At 3 months, she developed hypocalcemia and hyperphosphatemia with normal levels of vitamin D and alkaline phosphatase, and parathyroid hormone level was low. Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome. 相似文献
66.
Gender gap in coronary artery disease: comparison of the extent, severity and risk factors in men and women aged 45-65 years 总被引:4,自引:0,他引:4
This retrospective study aimed to characterize coronary artery disease (CAD) and its risk factors among relatively young women, as compared to men in a similar age group. Confirmed cases of CAD were compared regarding their medical background, performance and outcome of coronary artery procedures, physical profile and lifestyle information. The study population included 179 women and 270 men aged 45-65 years who were hospitalized during the study period 1990-1995 in the Hadassah Medical Centers. Significantly more women presented with histories of prior myocardial infarction and a higher number of vessels occluded by 80% or more and required percutaneous transluminal coronary angioplasty for 3 or more arteries, and the women had a higher incidence of risk factors such as diabetes, hypertension and hypercholesterolemia than their male counterparts. 相似文献
67.
This paper investigates the effect of health selection and its contribution to the social class gradient in health. Both inter- and intra-generational mobility were examined. Longitudinal data on health and social class at three life stages (16, 23, 33 years) are from the 1958 British birth cohort. Individuals with poor health were more likely to move down and less likely to move up the social scale, especially at the inter-generational transition. The effect of health selection on the social gradient was variable, of modest size and cannot be regarded as a major explanation for inequalities in health in early adulthood. 相似文献
68.
Radiological features of glandular odontogenic cyst 总被引:2,自引:0,他引:2
OBJECTIVES: To present five new cases of glandular odontogenic cyst (GOC) and to review the radiological features at presentation as reported in the English literature. METHODS: From 1993 to 2002, five patients in our department were diagnosed with GOC based on histopathological findings and supported by radiography and CT. The radiographic features of the new GOC cases were analysed in addition to 51 literature cases. RESULTS: There were 31 male and 25 female patients, aged 14-90 years (mean 50 years). The mandible was involved in 80% and the maxilla in 20%; most of the lesions were located in the anterior jaw. Radiographically, 52% of the lesions were unilocular and 48% were multilocular; 94.5% showed well defined borders, which were sclerotic in 7.7% and scalloped in 13%. Information on cortical plate integrity was available in only 24 cases: 50% showed perforation, 8.3% erosion of the cortical plates and 8.3% thinning of the cortical plates. Root resorption was reported in 22% of patients and tooth displacement in 24.4%. CONCLUSIONS: Data collected indicate that GOC has potentially aggressive behaviour, with expansion and perforation in a significant number of cases. We recommend the use of multiple plane radiographs, with CT reserved for large lesions, especially those that are multilocular or involve extragnathic structures. 相似文献
69.
The authors imaged a lung cancer patient with an enlarging solitary pulmonary nodule and incidentally found intense activity in the right proximal humerus consistent with known Paget disease confirmed via plain film and computed tomography (CT) without change in the CT appearance or symptoms during the next 7 months. The alkaline phosphatase and alanine amino transferase (ALT) levels were in the normal ranges. Their findings of high uptake with normal alkaline phosphatase and ALT are contradictory to previous reports. The authors present a case of Paget disease that appeared "hot" on positron emission tomography initially thought to be a malignant transformation that typically demonstrated high uptake. 相似文献
70.
Livny O Reifen R Levy I Madar Z Faulks R Southon S Schwartz B 《European journal of nutrition》2003,42(6):338-345
Summary.
Background:
Carotenoids contribute to the beneficial effects of fruits
and vegetables consumption; however, the bioavailability of
these compounds from fresh or processed foods is not well
established.
Aim of the
study:
We evaluated the bioavailability of -carotene (15 mg)
from a single meal composed of cooked, pureed carrots and
compared it to raw, chopped carrots.
Methods:
Test meals were given to overnight-fastedileostomy
volunteers (n = 8) along with skimmed-milk yogurt containing 40
g of added sunflower oil. Blood and complete ileal effluent
samples were collected over a 24 h period. Samples were
solvent-extracted and the -carotene content measured by
HPLC.
Results:
Kinetics of excretion of cis and trans -carotene were
similar. More -carotene was absorbed from puree as compared to
raw carrots. Carotenoid mass-balance calculations indicated that
65.1 ± 7.4% of the -carotene was absorbed from cooked pureed
carrot meals, vs. 41.4 ± 7.4 % from raw, chopped carrot meals.
Gastrointestinal transit parameters did not differ significantly
among the volunteers. As expected, the calculated lag phase was
five times longer for raw vs. cooked carrots. Mean t-end, t-1/2
and rate of mass transit resulted in similar values for both raw
and cooked carrot meals. A moderate response in carotenoid plasma
profile was observed for cooked carrot test meals.
Conclusions:
Significantly more -carotene was absorbed from meals
containing cooked, pureed carrots than from meals containing the
raw vegetable. Moderate carotenoid plasma response was detected
within 6 h following the administration of cooked processed
carotenoid-containing single meal. 相似文献