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901.
目的确定家族性复发性葡萄胎(familial recurrent hydatidiform mole, FRHM)的染色体亲源性,并进行基因定位。方法对葡萄胎组织进行病理分析,并通过激光捕获显微切割 (laser capture microdissection,LCM)技术从蜡块组织切片中纯化葡萄胎组织,应用聚合酶链反应扩增微卫星标记,确定FRHM的染色体亲源性;用19q13.4区域的25个微卫星标记进行单倍型检测,确定这两个家系中致病基因是否为已报道的基因座。结果两个FRHM均为双亲来源的完全性葡萄胎(biparental complete hydatidiform mole,BiCHM),两个家系中的患者在19q13.4区域中的大多数遗传标记位点上表现为杂合。结论FRHM常常与BiCHM相关,这两例家系的致病基因不在19q13.4区域,FRHM存在遗传异质性。 相似文献
902.
Most CD8+ cells in skin lesions of CD3+ CD4+ mycosis fungoides are CD3+ T cells that lack CD11b, CD16, CD56, CD57, and human Hanukah factor mRNA.
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903.
Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution 总被引:15,自引:6,他引:15
904.
Pharmacokinetics of fenoterol in pregnant and nonpregnant women 总被引:3,自引:0,他引:3
R. Hildebrandt H. Weitzel K. Warnke U. Gundert-Remy 《European journal of clinical pharmacology》1993,44(3):275-277
Summary In a placebo-controlled double-blind study, we examined the effect of perioperative oral administration of 6 mg dexamethasone, given once 12 h before and once 12 h after osteotomy of two impacted molar teeth, on postoperative edema, limitation of jaw opening, and intensity of postoperative pain. On the first day after surgery the difference in the increase in cheek swelling was 54.3% (P<0.001) as measured with a tape, 46% (P<0.001) measured with a gauge in the first molar area and 29% (P0.056) by sonographic measurement of the cheek diameter in the molar area. The limitation in the jaw opening was reduced by 17.7% (P<0.002) after dexamethasone. Pain assessed by visual analog scale was reduced by dexamethasone by 50% (P<0.01). The amount of analgesics required postoperatively (codeine phosphate) was reduced by 37% (P=0.02) following dexamethasone administration. Seventy-six percent of our patients preferred perioperative medication of dexamethasone. 相似文献
905.
An intensive chemotherapy regimen (EVDAC), including high-dose epirubicin, vincristine, and dexamethasone followed by cyclophosphamide and high-dose cytarabine, was administered to 54 untreated adults with intermediate or high-grade non-Hodgkin's lymphomas (NHL). The median age was 59, 61% were Ann Arbor Stage IV, 57% had "B" symptoms, 50% had serum lactate dehydrogenase greater than 250 U/L, and 48% had masses greater than 7 cm (33% > 10 cm) in diameter. Seventy-six percent of patients attained complete or probable complete remissions. The Kaplan- Meier actuarial failure-free survival at 7 years is 50%, and 59% (32 of 54) of all patients started on therapy remain alive and in first remission at a median of 62+ (range, 49+ to 76+) months from completion of therapy. Nearly all patients developed severe neutropenia. Febrile episodes requiring hospitalization during neutropenia occurred after 56% of courses of epirubicin, vincristine, and dexamethasone and after 9% of courses of cyclophosphamide and cytarabine; 80% of patients were hospitalized at least once. Platelet count nadirs of less than 20,000/microL occurred after only 1 of 146 evaluable courses of epirubicin and after none of the cyclophosphamide/cytarabine courses. Although 8 patients had decreases of at least 0.12 in their left ventricular ejection fractions (5 to below normal levels), none have developed clinically evident congestive heart failure. Clinically significant mucositis occurred after only 8% of courses of high-dose epirubicin. Three deaths from infections and one from hyperkalemia with cardiac arrest occurred during therapy. These results confirm that high remission and sustained, failure-free survival rates can be achieved in patients with aggressive NHL, using high-dose anthracycline-containing chemotherapy regimens. Epirubicin appears to have an advantage over doxorubicin at high doses because of decreased toxicity at a therapeutically equivalent dose. These phase II study results need to be validated in a randomized phase III trial, and growth factors should be used to attempt to reduce the neutropenia-associated complications. 相似文献
906.
AMP deaminase as a cell-age marker in transient erythroblastopenia of childhood and its role in the adenylate economy of erythrocytes 总被引:1,自引:0,他引:1
Erythrocytes from 11 patients with presumptive diagnoses of transient erythroblastopenia of childhood were evaluated retrospectively (six) or prospectively (five) for a possible relationship between erythrocyte adenosine 5'-monophosphate aminohydrolase, adenylic acid deaminase (AMP deaminase) activity and intracellular concentrations of adenine nucleotides. Older red blood cell (RBC) cohorts in these patients consistently exhibited significantly decreased activities of AMP deaminase (approximately 5% to 70% of normal control mean) in association with increased concentrations (up to threefold) of adenosine triphosphate (ATP) and total adenine nucleotides. We postulate that the latter is a direct consequence of the former, since diminishing AMP deaminase activity in aging cells should reduce the drain on the adenine nucleotide pool imposed by irreversible deamination of AMP to inosine 5'-monophosphate. Consistent reductions in AMP deaminase activity indicate that this enzyme should also serve as a reliable marker of mean RBC age useful in diagnostic confirmation of transient erythroblastopenia. The observed increases in ATP and total adenine nucleotides in older RBCs require a reevaluation of the traditional view that age-related losses of these compounds mediate the ultimate demise of senescent erythrocytes. Similar alterations in the balance of degradative and salvage pathways in RBC nucleotide metabolism may also underlie certain cases of so-called "high ATP syndrome." 相似文献
907.
908.
909.
910.
Richard D Telford Ross B Cunningham Jonathan E Shaw David W Dunstan Antony RA Lafferty Graham J Reynolds Peter E Hickman Emma Southcott Julia M Potter Paul Waring Rohan M Telford 《Pediatric diabetes》2009,10(8):500-507
Background: Knowledge of individual changes in insulin resistance (IR) and longitudinal relationships of IR with lifestyle‐associated factors are of important practical significance, but little longitudinal data exist in asymptomatic children. We aimed to determine (a) changes in the homeostatic model of insulin resistance (HOMA‐IR) over a 2‐yr period and (b) comparisons of longitudinal and cross‐sectional relationships between HOMA‐IR and lifestyle‐related risk factors. Methods: Our subjects, 241 boys and 257 girls, were assessed at age 8.1 yr (SD 0.35) and again 2 yr later for fasting blood glucose and insulin, dual X‐ray absorptiometry‐assessed percentage of body fat (%BF), pedometer‐assessed physical activity (PA), and cardio‐respiratory fitness (CRF) by multistage running test. Results: HOMA‐IR was initially 9% greater in girls than boys and 27% greater 2 yr later. There was no evidence of longitudinal relationships between HOMA‐IR and %BF in boys or girls, despite significant cross‐sectional relationships (p < 0.001). In boys, there was evidence of a longitudinal relationship between HOMA‐IR and both PA (p < 0.001) and CRF (p = 0.05). In girls, we found a cross‐sectional relationship between HOMA‐IR and CRF (p < 0.001). Conclusions: HOMA‐IR increases between 8 and 10 yr of age and to a greater extent in girls. Longitudinal, unlike cross‐sectional, relationships do not support the premise that body fat has any impact on HOMA‐IR during this period or that PA or CRF changes affect HOMA‐IR in girls. These data draw attention to difficulties in interpreting observational studies in young children. 相似文献