We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients. 相似文献
OBJECTIVE: To evaluate radiotherapy dose and length of treatment in the
control of early stage nasopharyngeal carcinoma (NPC) treated with a
combination of external radiotherapy and brachytherapy, MATERIALS &
METHODS: We reviewed the records of 133 patients with early stage
nasopharyngeal carcinoma (stage I or II, AJC/UICC staging system) who
received definitive radiotherapy in Chang Gung Memorial Hospital from 1979
to 1991. The median follow-up time was 7.1 years with a minimum of 2 years.
All patients were treated with megavoltage external radiotherapy to the
nasopharynx area (63-72 Gy) followed by high dose rate intracavitary
brachytherapy (5-16.5 Gy in one to three fractions, spaced 1-2 weeks
apart). The median total dose and time of irradiation was 75 Gy (69.8-81.4
Gy) and 11.6 weeks (7.8-20 weeks) respectively. Survival analysis was used
to examine the effect of several variables on prognosis. RESULTS: The
5-year rates were 86.4% for local control, 84.7% for disease free survival,
88.5% for actuarial survival and 84.2% for overall survival. The treatment
group (combination of time and dose of irradiation) was the most important
prognostic factor according to Cox's proportional hazard model. Patients
receiving radiation at a total dose of < or = 75 Gy completed in < 12
weeks showed the best prognosis. CONCLUSION: Treatment time and total
treatment dose are both important factors in treating early stage NPC.
Decreasing the total radiation time to < 12 weeks and not exceeding a
radiation dose of 75 Gy gave the best results.
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We examined the relationship between a functional polymorphism (667C--
>T, ala-->val) of the methylenetetrahydrofolate reductase gene
(MTHFR) and the risk of colorectal adenomas in the prospective Nurses'
Health Study. Among 257 incident polyp cases and 713 controls, the MTHFR
val/val polymorphism [relative risk (RR) = 1.35, 95% confidence interval
(CI) 0.84-2.17] was not significantly associated with risk of adenomas.
This lack of association was observed for both small (RR = 1.36, 95% CI
0.76-2.45) and large (RR = 1.32, 95% CI 0.66-2.66) adenomas. Furthermore,
there was no significant interaction between this polymorphism and
consumption of either folate, methionine or alcohol. We also examined the
relationship of a newly identified polymorphism (asp919gly) of the
methionine synthase gene (MS) with the risk of colorectal adenomas in the
same population. The MS gly/gly polymorphism was also not significantly
associated with risk of colorectal adenomas (RR = 0.66, 95% CI 0.26-1.70).
These results, which need to be confirmed in other studies, suggest that
the MTHFR val/val polymorphism, which has been previously inversely
associated with risk of colorectal cancer, plays a role only in a late
stage (adenoma-- >carcinoma) of colorectal tumorigenesis, and/or may
protect against malignant transformation in the subset of benign adenomas,
which may progress to malignancy.
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Primary CD30(Ki-1)-positive anaplastic large-cell lymphoma (ALCL) is considered by some to be a distinct clinicopathologic entity associated with the t(2;5) (p23;q35). However, the specificity of t(2;5) for ALCL has not been carefully studied. Therefore, we performed a detailed analysis of all cases of ALCL with abnormal cytogenetics results in the Nebraska Lymphoma Study Group registry, as well as all other cases of non-Hodgkin's lymphoma with t(2;5) in the registry. We found the t(2;5) in only five of 10 cases of ALCL, four of whom were young patients. However, we also found the t(2;5) in 11 other cases of nonanaplastic lymphoma, including eight children with typical peripheral T-cell lymphomas of various types. The t(2;5) was also found in three older adults with B-cell lymphomas of various types. Thus, the t(2;5) was not specific for CD30+ ALCL. However, t(2;5) may define a clinicopathologic entity in children and young adults characterized by variable morphologies with a T-cell or indeterminate phenotype, CD30-positivity, nodal disease with frequent extranodal involvement, advanced stage, and an excellent response to therapy, including bone marrow transplantation for relapsed disease. The clinical relevance of the t(2;5) in older patients requires further study. 相似文献
Background: We conducted a meta-analysis to assess the overall risk of cardiac toxicity associated with trastuzumab treatment in elderly breast cancer patients.
Methods: We searched databases from PubMed, EMBASE and Cochrane Central Registry of Controlled Trials to identify relevant studies. Statistical analyses were conducted to calculate the incidence rate, overall hazard ratio (HR) and 95% CIs using a fixed effects model.
Results: A total of 116,342 and 360 elderly patients from five cohort studies and two randomized clinical trials (RCTs) were included for analysis. The pooled incidences of symptomatic congestive heart failure (CHF) and CHF/HF/CM were 6.4% (95% CI 4.1% – 9.4) and 16.4% (95% CI 16.19% – 16.61) in patients with median age of 67.5 years from two RCTs and in patients with median age of 67.5 (60 – 75), 71 (66 – 80+), 74.5 (65 – 89), 75 (66 – 81+) and 79.5 (60 – 99) from five cohort studies, respectively. Trastuzumab was significantly correlated with an increased risk of defined cardiac toxicities in five cohort studies (HR = 1.89, 95% CI 1.72 – 2.07, p < 0.00001) and two RCTs (HR = 3.00, 95% CI 1.71, 5.26, p < 0.00001). Sub-group analysis showed that the anthracycline-based chemotherapy increased the risk of CHF/HF and CM in patients among five cohort studies (HR = 2.16, 95% CI: 1.8 – 1.87, p < 0.00001).
Conclusion: Trastuzumab is likely associated with an increased risk of cardiac toxicity in elderly patients with HER-2-positive breast cancer. Carefully monitoring cardiac function in elderly patients receiving trastuzumab, particularly with concurrent use of anthracycline, is warranted. 相似文献
Congenital nonspherocytic hemolytic anemia in an adult male of Scandinavian ancestry was associated with virtual absence of G6PD activity in red cells. Characterization of G6PD purified from leukocytes using standard WHO techniques revealed diminished electrophoretic mobility, marked lability on heating at 46 degrees C, normal pH optimum and utilization of alternate substrates (2-deoxy G6P, D-amino NADP), elevated Km NADP, and striking susceptibility to NADPH inhibition. The variant G6PD, which appears to be unique, has been designated G6PD San Francisco. An unusual feature of the variant enzyme, susceptibility to inactivation by brief periods of dialysis, could be prevented by addition of 200 microM NADP to the dialysis solution. In red cells, where G6PD activity was essentially absent, regeneration of reduced glutathione was totally curtailed in vitro, while in leukocytes, where residual G6PD activity was approximately 60% of normal, hexose monophosphate shunt activity, oxygen consumption during phagocytosis, and bacterial killing were unimpaired. Thus, instability of the variant enzyme rather than its unfavorable kinetics appeared to be an important determinant of abnormal cell function. 相似文献