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1.
Thalassemia is one of the most common single gene diseases worldwide. Populations in southern China and Taiwan have high prevalence rates of alpha- and beta-thalassemias. This review summarizes the current status of molecular studies, carrier screening, and prenatal diagnosis of thalassemia in Chinese. There are three genotypes of alpha-thalassemia 1 and at least six of alpha-thalassemia 2 in Chinese. For alpha-thalassemia 1, the South-East Asian deletion is the most common, followed by the Thai then Philippino deletions. For alpha-thalassemia 2, the rightward deletion is the most common, followed by the leftward deletion, and the nondeletional defects Hb Constant Spring and Hb Quong Sze. Twenty-eight different beta-thalassemia mutations have been reported. Four mutations, IVS-II-654 (C-->T), codons 41/42 frameshift (-TCTT), and nonsense codons 17 (A-->T) and -28 (A-->G), account for more than 90% of mutant alleles. For detection of alpha-thalassemia, polymerase chain reaction-related techniques are mainly used. Southern blot hybridization is still useful, especially for prenatal diagnosis. For detection of beta-thalassemia mutations, analysis of amplification-created restriction sites and reverse dot blot hybridization have been extensively used. In Taiwan, a national screening program incorporating hematological and molecular biological methods for thalassemia detection in pregnant women has been in progress for 5 years. Prenatal diagnosis has been performed in more than 1,800 pregnancies, including 1,500 cases at risk for homozygous alpha-thalassemia 1 and 300 for beta-thalassemia major, resulting in early prenatal diagnosis and termination of pregnancies affected with homozygous alpha-thalassemia 1 and an approximately 70% decrease in the number of newborns affected with beta-thalassemia major. In mainland China, only one large-scale screening program is in place. Characterization of undefined alleles, a higher awareness of the disease among physicians and the general public, and improvement of the service network will be important for early prenatal diagnosis and prevention of the disease in the future.  相似文献   

2.
We present a case of central nervous system (CNS) infection due to Stomatococcus mucilaginosus involving a patient with leukemia and summarize 12 additional published reports of CNS infection due to this organism in immunocompromised hosts. The infection was diagnosed most commonly in the setting of hematologic malignancy accompanied by chemotherapy-induced neutropenia. S. mucilaginosus was recovered from blood prior to discovery of the CNS infection in 62% of cases. Signs or symptoms of CNS infection were observed in all patients. Although a number of patients responded to regimens containing intravenous vancomycin, the addition of intrathecal vancomycin appeared to be of benefit in some cases.  相似文献   

3.
One hundred and sixteen cases of stage I ovarian cancer from 6 hospitals in China were investigated for their lymph node metastasis from September, 1982 to April 1991. Of them, 70 had epithelial tumor, 36 malignant germ cell tumor, 8 gonadal stroma, and 2 undifferentiated tumor. Ovarian tumor confined to one ovary (stage Ia) in 89 patients, both ovaries involved (stage IIb) in 6, and documented stage Ic in 21. Systemic lymphadenectomy involving all pelvic groups of node together with aortic lymph node was accomplished in 82 patients. In the remaining 34 patients, pelvic lymph node dissection was performed. The incidence of lymphatic metastasis was 10.3% in this series. Serous cystadenocarcinoma was the most common lesion. All patients were followed up for at least half year. The mortality rate in patients with and without lymph node metastasis was 8.3% and 2.8% respectively. The clinical significance of retroperitoneal lymphadenectomy in early ovarian carcinoma was discussed.  相似文献   

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5.
A case of juvenile thyroid carcinoma with metastasis to the bilateral cervical lymph nodes in a 9-year-old male is reported. The clinical picture of juvenile thyroid carcinoma is characterized by early metastasis to the lungs and cervical lymph nodes. In Europe, there have been many reports of thyroid carcinoma after radiation. However, our patient had received no radiation. Surgery consisted of subtotal thyroidectomy and right modified neck dissection. The tumor was a papillary adenocarcinoma and metastasis was seen in 24 out of 38 lymph nodes removed. The serum thyroglobulin level, determined by radioimmunoassay, was 184 ng/ml preoperatively, but by 8 months postoperatively the level fell to 48 ng/ml. No signs of recurrence have been found to date (30 months after the operation).  相似文献   

6.
Reports on successful surgical treatment of patients with non-small lung carcinoma and adrenal metastasis are infrequent. For this reason the Authors believe interesting to report a case of a patient with non-small lung cancer and single adrenal metastasis who underwent lung superior lobectomy and, after chemotherapy, adrenalectomy. A relapse was observed one year later in the lumbar region and the patient was reoperated undergoing removal of the recurrence associated to splenectomy and pancreas tail resection; thereafter the patient was treated with local radiotherapy. Forty-one months after the first operation the patient is well and disease free.  相似文献   

7.
Cadherins are Ca2+-dependent cell-cell adhesion molecules, and are involved in the formation and maintenance of the organocellular architecture. Using a combination of molecular biologic and biochemical methods, we analyzed cadherins expressed on cultured human malignant lymphoma cell lines (adult T cell lymphomas, human T cell leukemia virus type 1-negative T cell lines, and thymus-derived lymphoma cell lines), and obtained evidence that N-cadherin is the major cadherin expressed on these cells. These cells were found to form cell aggregates in a Ca2+-dependent manner, and more importantly to coaggregate and adhere with cells expressing N-cadherin, suggesting that N-cadherin on lymphoma cells is functionally active. Therefore, N-cadherin expressed on lymphoma cells could underlie the frequent invasion of these cells into the mesenchymal tissue in the skin and the central nervous system.  相似文献   

8.
1. Mice were given sodium valproate (0.71%) in the drinking fluid for 21 days. The antinociceptive activity, locomotor activity and body temperature changes were recorded at 7, 14 and 21 days. The possible carryover antinociceptive effects were also determined after valproate withdrawal for up to 3 days after 7-, 14- and 21-day treatment. 2. The antinociceptive activity was present only on days 7, 14 and 21 and, on withdrawal of the drug, the antinociceptive activity disappeared. 3. Thus, with this regimen of valproate administration, there was no persistent antinociceptive activity (carryover effect). There were essentially no effects of valproate on the locomotor activity and body temperature of mice. The antinociceptive effects were due to the presence of the drug and disappeared on valproate's withdrawal.  相似文献   

9.
BACKGROUND: Modern hair restoration procedures may involve, individually or in combinations, flaps, grafts consisting of plugs, slits, strips, minigrafts, or micrografts, with or without alopecia reduction. OBJECTIVE: To review the density achieved using mini-micrografting technique compared with that accomplished by plug methodology. METHODS: Hair counts per square centimeter were done on both mini-micrografted and plug cases from the author's practice. RESULTS: Comparable density (terminal hair per square centimeter) was noted to occur with either technique but accomplished with fewer sessions using mini-micrografting methodology and relatively dense packing of grafts. CONCLUSION: The density issue is a nonissue if comparable numbers of hair are transplanted per square centimeter.  相似文献   

10.
Cardiac metastasis of uterine cervical carcinoma is rare. We describe a patient with a past history of uterine cervical carcinoma who presented with metastasis to the heart, lungs and distant lymph nodes 3 yr after surgery and chemotherapy. Since the patient complained of chest pain and demonstrated electrocardiogram abnormalities, we performed echocardiography, electron beam CT and MRI, which revealed a tumor in the right ventricular wall. The tumor was assessed by 67Ga scintigraphy and 18F-fluorodeoxyglucose (FDG) PET scanning. The mean differential 18F-FDG uptake ratio of the tumor was 7.9, suggesting malignancy, which was later confirmed by myocardial biopsy. Information about the extent of the tumor and partial necrosis within it was provided by 18F-FDG PET. Although both radionuclide imaging techniques also detected metastatic lesions in the lungs and lymph nodes, 18F-FDG PET scanning detected small lesions more sensitively than 67Ga scintigraphy.  相似文献   

11.
BACKGROUND: Monitoring health targets is often undertaken using questionnaire surveys of lifestyle risk factors. Non-response bias is recognized but rarely quantified. METHODS: Following a questionnaire survey on a random sample of 6009 residents of Somerset with a response rate of 57.6 per cent, a telephone survey was undertaken on a random sample of 400 non-responders. A small number of the more important questions from the questionnaire were put to the non-responders over the phone. RESULTS: Fifty-nine per cent of the sample were contacted and agreed to participate. Statistically significant differences between responders and non-responders to the original questionnaire were detected for current smoking, hazardous alcohol consumption and lack of moderate or vigorous activity. CONCLUSIONS: Lifestyle questionnaire surveys need to include an assessment of the non-response bias.  相似文献   

12.
A rapid bioluminometric technique for real-time detection of known single-base changes is presented. The concept relies on the measurement of the difference in primer extension efficiency by a DNA polymerase of a matched over a mismatched 3' terminal. The rate of the DNA polymerase-catalyzed primer extension is measured by an enzymatic luminometric inorganic pyrophosphate (PPi) detection assay (ELIDA) (P. Nyrén (1987) Anal. Biochem. 167, 235-238). The PPi formed in the polymerization reaction is converted to ATP by ATP sulfurylase and the ATP production is continuously monitored by the firefly luciferase. In the single-base detection assay, immobilized single-stranded DNA fragments are used as template. Two detection primers differing with one base at the 3' end are designed, one precisely complementary to the nonmutated DNA sequence and the other precisely complementary to the mutated DNA sequence. The primers are hybridized with the 3'-termini over the base of interest and the primer extension rates are, after incubation with DNA polymerase and deoxynucleotides, measured with the ELIDA. We show that the relative mismatch extension efficiency is strongly decreased by substituting the alpha-thiotriphosphate analog for the next correct natural deoxynucleotide after the 3'-mismatch termini. The possibility of using the technique for studies of mismatch extension kinetics for two polymerases lacking exonucleolytic activity is shown.  相似文献   

13.
AIMS AND BACKGROUND: The metastatic spread of squamous cell carcinoma of the head and neck (SCCHN) to the cervical lymph nodes is a negative prognostic factor in terms of survival. We have used multivariate analysis to identify the possible prognostic significance of a number of clinical and pathological characteristics in relation to possible involvement of the cervical lymph nodes in a series of 396 patients. METHOD: 396 patients with SCCHN were studied. Variables regarding the patient, the carcinoma and histology were analysed by multivariate analysis using BMDP's PLR programme. RESULTS: Some variables appear to represent predisposing factors for tumor spread to the lymph nodes: tumor site (supraglottic larynx: P = 0.005; base of the tongue: P = 0.02; hypopharynx: P = 0.02), grading (P = 0.001), and a number of histological parameters (lower degree of histological differentiation: P = 0.001; vascular permeation: P = 0.04; perineural invasion: P < 0.05; prevalently plasmocytic infiltrate: P < 0.05). CONCLUSION: The identification of cases at risk for metastasis can be improved by the assessment of prognostic factors, with a consequent improvement in treatment strategies.  相似文献   

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15.
BACKGROUND: Metastatic disease of the breast is often an unexpected diagnosis in a female presenting with a breast mass. The most common metastatic cancer to involve the breast is melanoma. Among gynecologic tumors, the most common primary is ovarian carcinoma. Carcinoma of the cervix metastasizing to the breast is extremely rare. CASE: A 45-year-old female developed multiple bilateral breast masses during a course of radiotherapy for carcinoma of the cervix. Cytologic smears of the breast masses revealed adenocarcinomatous cells as well as keratinizing and nonkeratinizing malignant squamous cells, consistent with a histopathologic diagnosis of metastasizing adenosquamous carcinoma of the breast from primary cervical cancer. CONCLUSION: Fine needle aspiration cytology diagnosis of malignancy metastatic to the breast is important to differentiate it from a second primary tumor and avoid an unnecessary mastectomy.  相似文献   

16.
A 43-year-old female with a thymic carcinoma spreading to the extrathorac region is reported. She had received radiation and chemotherapy, after that thymic carcinoma was extirpated. Five months later, the patient was noticed to have a right side hemiparesis, following consciousness disturbance. CT and MRI revealed a left thalamic mass with a heterogenous enhancement effect. The tumor was diminished dramatically due to radiation. Metastasis of thymic carcinoma to the central nervous system is discussed.  相似文献   

17.
BACKGROUND: Pulmonary metastasis is the commonest site of extrahepatic spread from hepatocellular carcinoma (HCC). The aim of the present study was to evaluate the efficacy of surgical management in patients with solitary pulmonary metastases from HCC. METHODS: This was a retrospective study of patients with HCC admitted for hepatectomy from July 1972 to June 1995. The records of patients who had a pulmonary resection for histologically proven pulmonary recurrence after curative hepatectomy were selected for analysis. RESULTS: In the study interval, 380 patients with HCC underwent hepatectomy. Some 48 patients (12.6 per cent) developed pulmonary metastases documented pathologically or radiologically. Nine (seven men and two women) were suitable for curative pulmonary resection. The median disease-free survival between hepatectomy and appearance of the lung metastasis was 21 months. The median survival after pulmonary resection was 42 months, and the 1-, 2- and 5-year survival rates were 100, 78 and 67 per cent respectively. CONCLUSION: Pulmonary resection for metastases from HCC resulted in long-term survival in these highly selected patients.  相似文献   

18.
OBJECTIVE: The aim of this study was to evaluate the effects of surgical treatments for patients with stage IV-A hepatocellular carcinoma (HCC) without lymph node metastasis. SUMMARY BACKGROUND DATA: Nonsurgical therapy for highly advanced HCC patients has yielded poor long-term survival. Surgical intervention has been initiated in an effort to improve survival. METHODS: The outcome of 150 patients who underwent hepatic resection was studied. Survival analysis was made by stratifying stage IV-A HCC patients into two groups-those with and those without involvement of a major branch of the portal or hepatic veins. Those with involvement were further divided into subgroups according to major vascular invasions. RESULTS: Patients who had multiple tumors in more than one lobe without vascular invasion had a significantly better 5-year survival rate (20%) than those with vascular invasion (8%) (p < 0.01). The survival rate of patients with hepatic vein tumor thrombi (10%) was better than the rate for those with tumor thrombi in the inferior vena cava (0%), in whom no patients survived more than 2 years, although the survival rate for those with portal vein tumor thrombi in the first branch (11%) was no different from the rate for that in the portal trunk (4%). The operative mortality decreased from 14.3% in the first 6 years to 1.4% in the following 5 years. CONCLUSIONS: Surgical intervention for stage IV-A HCC patients brought longer survival rates for some patients. We recommend surgical intervention as an effective therapeutic modality for patients with advanced HCC.  相似文献   

19.
Vitronectin (VN) is an obligatory cofactor for the inhibition of thrombin by plasminogen activator inhibitor 1 (PAI-1). It accelerates the rate of association between thrombin and PAI-1 more than two orders of magnitude. In contrast, VN does not accelerate the association between tissue-type plasminogen activator (t-PA) and PAI-1. Previously, we reported that the anti-PAI-1 monoclonal antibody (MoAb) CLB-2C8 binds to a short stretch of amino acids of PAI-1, located between residues 128 and 145, and prevents PAI-1 binding to VN. Furthermore, MoAb CLB-2C8 fully blocks the inhibitory activity of PAI-1 towards t-PA, emphasizing the importance of this area for the interaction with t-PA. Here, we show that this area is also required for the interaction between thrombin and PAI-1, since MoAb CLB-2C8 fully prevents inhibition of thrombin by PAI-1. In spite of similar structural requirements for the interaction between t-PA, PAI-1 and VN and between thrombin, PAI-1 and VN, the intermediate reaction products are clearly distinct. By employing surface plasmon resonance (SPR), using the BIAcore equipment, and by immunoprecipitation we demonstrate that, in the presence of VN, t-PA and PAI-1 form exclusively equimolar binary t-PA/PAI-1 complexes. Thrombin, PAI-1 and VN generate equimolar, binary thrombin/PAI-1 complexes and in addition equimolar, ternary complexes and multimers.  相似文献   

20.
Clear cell odontogenic tumors are rare. Review of the literature showed 9 cases with a prominent clear cell component. These lesions have exhibited an aggressive behavior characterized by an infiltrative local growth pattern, recurrence, or metastases. We report a case of an odontogenic tumor that exhibited a biphasic pattern and was characterized by lymph node involvement identical histologically to the primary tumor. We conclude that the presence of a clear cell component in an ameloblastomatous tumor should be viewed as a sign of de-differentiation, and that a malignancy with or without metastases should be considered and ruled out in such cases.  相似文献   

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