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291.
Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development 下载免费PDF全文
Robbert DA Weren Ramprasath Venkatachalam Jean‐Baptiste Cazier Henner F Farin C Marleen Kets Richarda M de Voer Lilian Vreede Eugène TP Verwiel Monique van Asseldonk Eveline J Kamping Lambertus A Kiemeney Kornelia Neveling Katja KH Aben Luis Carvajal‐Carmona Iris D Nagtegaal Hans K Schackert Hans Clevers Marc van de Wetering Ian P Tomlinson Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Ad Geurts van Kessel Roland P Kuiper 《The Journal of pathology》2015,236(2):155-164
Heritable genetic variants can significantly affect the lifetime risk of developing cancer, including polyposis and colorectal cancer (CRC). Variants in genes currently known to be associated with a high risk for polyposis or CRC, however, explain only a limited number of hereditary cases. The identification of additional genetic causes is, therefore, crucial to improve CRC prevention, detection and treatment. We have performed genome‐wide and targeted DNA copy number profiling and resequencing in early‐onset and familial polyposis/CRC patients, and show that deletions affecting the open reading frame of the tumour suppressor gene FOCAD are recurrent and significantly enriched in CRC patients compared with unaffected controls. All patients carrying FOCAD deletions exhibited a personal or family history of polyposis. RNA in situ hybridization revealed FOCAD expression in epithelial cells in the colonic crypt, the site of tumour initiation, as well as in colonic tumours and organoids. Our data suggest that monoallelic germline deletions in the tumour suppressor gene FOCAD underlie moderate genetic predisposition to the development of polyposis and CRC. © 2015 Authors. Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland. 相似文献
292.
Relationship between hip muscle imbalance and occurrence of low back pain in collegiate athletes: a prospective study 总被引:2,自引:0,他引:2
Nadler SF Malanga GA Feinberg JH Prybicien M Stitik TP DePrince M 《American journal of physical medicine & rehabilitation / Association of Academic Physiatrists》2001,80(8):572-577
OBJECTIVE: To assess whether athletes with strength imbalance of the hip musculature would be more likely to require treatment for low back pain (LBP) over the ensuing year. DESIGN: The study population included 163 National Collegiate Athletic Association Division I college athletes (100 males and 63 females) undergoing preparticipation sports physicals. Institutional review board approval was obtained to acquire and analyze hip muscle strength data. A commercially available dynamometer (Chatillon, Lexington, KY) incorporated into a specially designed anchoring station was used for testing the hip extensors and abductors. The maximum force generated for the hip abductors and extensors was used to calculate a percentage difference between the right and left hip extensors and abductors. Treatment of athletes by the athletic trainers for LBP unrelated to blunt trauma over the ensuing year was recorded. RESULTS: Of all athletes, 5 of 63 females and 8 of 100 males required treatment for LBP. Logistic regression analysis indicated that for female athletes, the percentage difference between the right and left hip extensors was predictive of whether treatment for LBP was required over the ensuing year (P = 0.05). There was no significant association noted for the percentage difference between the right and left hip abductors in females and for the percentage difference between both the right and left hip abductors and right and left hip extensors in males requiring treatment for LBP. CONCLUSIONS: These data support our results from our previous cohort study, adding validity to the concept of hip muscle imbalance being associated with LBP occurrence in female athletes. This research further supports the need for the assessment and treatment of hip muscle imbalance in individuals with LBP. 相似文献
293.
DC Kandiloros MD PHD GA Goletsos MD PHD TP Nikolopoulos MD PhD EA Ferekidis MD PhD AS Tsomis MD PhD GK Adamopoulos MD PHD 《International journal of clinical practice》1997,51(2):69-70
SUMMARY In this study we investigated the possible relationship of laryngeal cancer and subclinical lead intoxication, using the depression of aminolevulinic acid dehydratase (ALAD) activity in blood as indicator. Twenty-six patients with laryngeal cancer and 53 normal controls met the criteria to enter the study. Blood ALAD activity values in the patients with laryngeal cancer ranged from 27.1 to 75.3 U/l with a mean of 50.79 U/l. The respective values in the control group ranged from 36.2 to 98 U/l with a mean of 59.76 U/l. There was a statistically significant difference between the two means (0.001 <p<0.01), whereas blood lead concentrations in all patients were within normal limits. These findings support the hypothesis that low level lead intoxication (subclinical blood lead levels), from cars, industries and products, may contribute to the risk of laryngeal cancer. Further investigation is needed to clarify the exact relationship between lead and cancer of the larynx. 相似文献
294.
BACKGROUND: DIDS (4,4′-diisothiocyanatostilbene-2,2′-disulfonic acid) inhibits the formation of serum-or plasma-induced rouleaux through its ability to bind to band 3 on red cell membranes. This property of DIDS was evaluated in the serologic testing of specimens exhibiting rouleaux. STUDY DESIGN and METHODS: Optimal test conditions for DIDS treatment of reagent red cells were determined by varying the volume and concentration of DIDS solution and the incubation temperature and duration and comparing the results of antibody screening procedures using specimens that exhibit macroscopically visible rouleaux. Blind titration studies compared untreated and DIDS-treated red cells to evaluate the maintenance of antigen integrity. The use of DIDS-treated red cells for antibody detection and identification was evaluated by comparing the results in donor specimens containing antibodies with those in untreated and DIDS-treated selected panel cells. In addition, 4-percent (wt/vol) dextran in serum was used to induce rouleaux formation as a way of determining the capability of DIDS to resolve ABO serum grouping discrepancies. RESULTS: Complete inhibition of rouleaux formation occurred when reagent red cells were treated by incubation at 37 degrees C for 10 minutes with 150 microliter (approx. 5 drops) of 0.05 mg per mL of DIDS in 0.9-percent NaCl. There were no significant differences in titration scores of untreated and DIDS-treated red cells tested with the 19 antisera used to assess antigen integrity. Antibody identification studies showed that DIDS-treated reagent red cells reacted similarly to untreated reagent red cells. In addition, DIDS resolved dextran-induced ABO serum grouping discrepancies. CONCLUSION: DIDS effectively resolved the serologic problems associated with the presence of rouleaux, without affecting the results of the test system itself. Implementation of this method to inhibit the rouleaux-forming properties of serum and plasma specimens can be useful in serologic testing. 相似文献
295.
Population based standards for pulmonary function in non-smoking adults in Singapore 总被引:1,自引:0,他引:1
Abstract Ethnic differences in lung function are well recognized, hence the use of normative data should therefore be based on reference equations that are derived specifically for different ethnic groups. We have collected data ( n =406) for population-based reference values of lung function from randomly selected samples of healthy non-smoking adults of both gender (aged 20–79 years) for each of the three major ethnic groups (Chinese, Malay and Indians) in Singapore. Lung function forced expiratory volume in 1 second (FEV1 ), forced vital capacity (FVC), FEV1 /FVC, diffusion capacity (transfer factor) for carbon monoxide (DLCO), total lung capacity (TLC), residual volume (RV), RV/TLC and functional residual capacity (FRC) was measured using standardization procedures and acceptability criteria recommended by the American Thoracic Society. Lung function values were predicted from age, height, weight, body mass index (BMI) and transformed variables of these anthropometric measures, using multiple regression techniques. Ethnic differences were demonstrated, with Chinese having the largest lung volumes and flow rates, and Indians the smallest. These prediction equations provide improved and additional (TLC, RV, RV/TLC, FRC) population-based reference values for assessment of pulmonary health and disease in Singapore 相似文献
296.
小檗碱对局灶性脑缺血大鼠血小板聚集及血浆TXB2和6-keto-PGF1a水平的影响 总被引:3,自引:0,他引:3
以大鼠可逆性大脑中动脉梗塞(MCAO)致局灶性脑缺血为模型,观察小檗碱对大鼠MCAO24h后血小板粘附、聚集、血栓形成及血浆TXB2和PGI2生成的影响。结果表明,小檗碱20mg·kg-1·d-1ipl,3或5d,明显降低MCAo24h后血小板粘附性及ADP、胶原和花生四烯酸诱导的血小板聚集率,抑制血浆TXB2水平。同剂量ip3或5d,则抑制血栓形成。提示小檗碱可能通过其抗血小板粘附和聚集及影响花生四烯酸代谢而发挥抗脑缺血作用。 相似文献
297.