Revista do Hospital das Clinicas最新文献

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Fetal programming and future disease. 胎儿规划和未来疾病。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600002
Mário Cícero Falcão
{"title":"Fetal programming and future disease.","authors":"Mário Cícero Falcão","doi":"10.1590/s0041-87812004000600002","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600002","url":null,"abstract":"","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"319-20"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adverse life events and coping skills in panic disorder. 惊恐障碍的不良生活事件和应对技能。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600005
Mariângela Gentil Savoia, Márcio Bernik
{"title":"Adverse life events and coping skills in panic disorder.","authors":"Mariângela Gentil Savoia,&nbsp;Márcio Bernik","doi":"10.1590/s0041-87812004000600005","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600005","url":null,"abstract":"<p><strong>Unlabelled: </strong>Research literature and clinical experience shows that panic patients are often able to identify stressors that preceded the onset of their first attacks. In this study we investigated the relation between life events, coping skills, and panic disorder.</p><p><strong>Methods: </strong>Forty-tree panic patients were compared with 29 control subjects regarding the occurrence and the impact of stressful life events in a 1-year period preceding the onset of panic attacks using the Social Readjustment Rating Scale and London Life Event and Difficulty Schedule. Coping skills were measured using the Ways of Coping Questionnaire.</p><p><strong>Results: </strong>No differences were observed between panic patients and controls regarding the number of reported stressful life events in the previous year. Panic patients compared to controls reported loss of social support as the most meaningful class of events significantly more often. In response to stressful situations, panic patients more often used coping skills judged as ineffective.</p><p><strong>Conclusions: </strong>The present study suggests that the type of life event and the coping skills used in response to them, more than the occurrence of stressful events itself, may be associated with the onset of panic disorder.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"337-40"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic factors in locally advanced colon cancer treated by extended resection. 局部晚期结肠癌扩大切除术的预后因素分析。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600009
René A C Vieira, Ademar Lopes, Paulo A C Almeida, Benedito M Rossi, Wilson T Nakagawa, Fabio O Ferreira, Celso A Melo
{"title":"Prognostic factors in locally advanced colon cancer treated by extended resection.","authors":"René A C Vieira,&nbsp;Ademar Lopes,&nbsp;Paulo A C Almeida,&nbsp;Benedito M Rossi,&nbsp;Wilson T Nakagawa,&nbsp;Fabio O Ferreira,&nbsp;Celso A Melo","doi":"10.1590/s0041-87812004000600009","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600009","url":null,"abstract":"<p><strong>Unlabelled: </strong>The impact of clinical, pathologic, and surgical variables on the postoperative morbidity, mortality, and survival of patients undergoing extended resections of colon carcinoma were evaluated.</p><p><strong>Methods: </strong>The medical records of 95 patients who underwent extended resections for colon carcinoma between 1953 and 1996 were reviewed. In all cases, in addition to colectomy, 1 or more organs and/or structures were resected en bloc due to a macroscopically based suspicion of tumor invasion. The clinical, pathologic, and surgical parameters were analyzed. Overall survival rates were analyzed according to the method of Kaplan and Meier. Multivariate analysis was performed using the Cox proportional hazards model.</p><p><strong>Results: </strong>Eighty-six patients were treated by curative surgeries and the remaining by palliative resections. Invasion of the organs and/or adjacent structures and regional lymph nodes was found microscopically in 48 and 31 patients, respectively. The median follow-up without postoperative mortality was 47.7 months. The 5-year overall survival rates was 52.6%. The 5-year overall survival rates for patients undergoing curative and palliative surgeries was 58.3% and 0%, respectively. The mean survival time in the palliative surgery group was 3.1 months. Multivariate analysis showed that Karnofsky performance status was strongly related to the risk of postoperative complications (P = .01), and postoperative deaths were associated with the type of surgery and Karnofsky performance status at the time of admission (P = .001).</p><p><strong>Conclusions: </strong>Some patients with locally advanced colon adenocarcinomas undergoing extended resections have a 5-year overall survival rates of 58.3%. Patients could benefit from palliative-intent procedures, but these measures should cautiously be indicated and avoided in patients with low Karnofsky performance status due to high rates of postoperative mortality and poor survival.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"361-8"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 22
Retrospective evaluation of bone pain palliation after samarium-153-EDTMP therapy. 钐-153- edtmp治疗后骨痛缓解的回顾性评价。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600003
Marcelo Tatit Sapienza, Carla Rachel Ono, Maria Inês Cury Guimarães, Tomoco Watanabe, Paulo Aguirre Costa, Carlos Alberto Buchpiguel
{"title":"Retrospective evaluation of bone pain palliation after samarium-153-EDTMP therapy.","authors":"Marcelo Tatit Sapienza,&nbsp;Carla Rachel Ono,&nbsp;Maria Inês Cury Guimarães,&nbsp;Tomoco Watanabe,&nbsp;Paulo Aguirre Costa,&nbsp;Carlos Alberto Buchpiguel","doi":"10.1590/s0041-87812004000600003","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600003","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to evaluate the degree of metastatic bone pain palliation and medullar toxicity associated with samarium-153-EDTMP treatment.</p><p><strong>Methods: </strong>Seventy-three patients with metastatic bone pain having previously undergone therapy with samarium-153-EDTMP (1 mCi/kg) were retrospectively evaluated. Routine follow-up included pain evaluation and blood counts for 2 months after treatment. Pain was evaluated using a subjective scale (from 0 to 10) before and for 8 weeks after the treatment. Blood counts were obtained before treatment and once a week for 2 months during follow-up. Dosimetry, based upon the urinary excretion of the isotope, was estimated in 41 individuals, and the resulting radiation absorbed doses were correlated with hematological data.</p><p><strong>Results: </strong>Reduction in pain scores of 75% to 100% was obtained in 36 patients (49%), with a decrease of 50% to 75%, 25% to 50%, and 0% to 25% in, respectively, 20 (27%), 10 (14%), and 7 (10%) patients. There was no significant relationship between the pain response and location of the primary tumor (breast or prostate cancer). Mild to moderate myelosuppression was noted in 75.3% of patients, usually with hematological recovery at 8 weeks. The mean bone marrow dose was 347 +/- 65 cGy, and only a weak correlation was found between absorbed dose and myelosuppression (Pearson coefficient = .4).</p><p><strong>Conclusions: </strong>Samarium-153-EDTMP is a valuable method for metastatic bone pain palliation. A mild to moderate and transitory myelosuppression is the main toxicity observed after samarium therapy, showing a weak correlation with dosimetric measures.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"321-8"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 25
Effects of medical therapy, alcohol, smoking, and endocrine disruptors on male infertility. 药物治疗、酒精、吸烟和内分泌干扰物对男性不育的影响。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600011
Fábio Firmbach Pasqualotto, Antônio Marmo Lucon, Bernardo Passos Sobreiro, Eleonora Bedin Pasqualotto, Sami Arap
{"title":"Effects of medical therapy, alcohol, smoking, and endocrine disruptors on male infertility.","authors":"Fábio Firmbach Pasqualotto,&nbsp;Antônio Marmo Lucon,&nbsp;Bernardo Passos Sobreiro,&nbsp;Eleonora Bedin Pasqualotto,&nbsp;Sami Arap","doi":"10.1590/s0041-87812004000600011","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600011","url":null,"abstract":"<p><p>Infertility affects up to 15% of the sexually active population, and in 50% of cases, a male factor is involved, either as a primary problem or in combination with a problem in the female partner. Because many commonly encountered drugs and medications can have a detrimental effect on male fertility, the medical evaluation should include a discussion regarding the use of recreational and illicit drugs, medications, and other substances that may impair fertility. With the knowledge of which drugs and medications may be detrimental to fertility, it may be possible to modify medication regimens or convince a patient to modify habits to decrease adverse effects on fertility and improve the chances of achieving a successful pregnancy. Concern is growing that male sexual development and reproduction have changed for the worse over the past 30 to 50 years. Although some reports find no changes, others suggest that sperm counts appear to be decreasing and that the incidence of developmental abnormalities such as hypospadias and cryptorchidism appears to be increasing, as is the incidence of testicular cancer. These concerns center around the possibility that our environment is contaminated with chemicals--both natural and synthetic--that can interact with the endocrine system.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"375-82"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 93
Hypertension in employees of a University General Hospital. 某大学总医院职工高血压调查。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/S0041-87812004000600004
Decio Mion, Angela M G Pierin, Alberto P Bambirra, Jorge H Assunção, Juliana M Monteiro, Roberta Y Chinen, Roger B Coser, Vânia N Aikawa, Fernanda M Cação, Mariana Hausen, Marcelo F Vilibor, Nádia E Aikawa, Sérgio N Konno, Roger B Coser
{"title":"Hypertension in employees of a University General Hospital.","authors":"Decio Mion,&nbsp;Angela M G Pierin,&nbsp;Alberto P Bambirra,&nbsp;Jorge H Assunção,&nbsp;Juliana M Monteiro,&nbsp;Roberta Y Chinen,&nbsp;Roger B Coser,&nbsp;Vânia N Aikawa,&nbsp;Fernanda M Cação,&nbsp;Mariana Hausen,&nbsp;Marcelo F Vilibor,&nbsp;Nádia E Aikawa,&nbsp;Sérgio N Konno,&nbsp;Roger B Coser","doi":"10.1590/S0041-87812004000600004","DOIUrl":"https://doi.org/10.1590/S0041-87812004000600004","url":null,"abstract":"<p><strong>Purpose: </strong>To find out the prevalence of hypertension in employees of the Hospital and relate it to social demographic variables.</p><p><strong>Methods: </strong>Blood pressure measurement was performed with a mercury sphygmomanometer, using an appropriate cuff size for arm circumference, weight, and height in a population sample of 864 individuals out of the 9,905 employees of a University General Hospital stratified by gender, age, and job position.</p><p><strong>Results: </strong>Hypertension prevalence was 26% (62% of these reported being aware of their hypertension and 38% were unaware but had systolic/diastolic blood pressures of >140 and/or >90 mm Hg at the moment of the measurement). Of those who were aware of having hypertension, 51% were found to be hypertensive at the moment of the measurement. The prevalence was found to be 17%, 23%, and 29% (P <.05) in physicians, nursing staff, and \"others\", respectively. The univariate analysis showed a significant odds ratio for the male gender, age >50 years, work unit being the Institute of Radiology and the Administration Building, educational level <elementary school, length of work >10 years, and body mass index >30 kg/m2. The multivariate logistic regression model revealed a statistically significant association of hypertension with the following variables: gender, age, skin color, family income, and body mass index.</p><p><strong>Conclusions: </strong>Hypertension prevalence was high, mainly in those who were not physicians or members of the nursing staff. High-risk groups (obese, non-white, men, low family income) should be better advised of prevention and early diagnosis of hypertension by means of special programs.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"329-36"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/S0041-87812004000600004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 75
Natural history of stenosis in the iliac arteries in patients with intermittent claudication undergoing clinical treatment. 接受临床治疗的间歇性跛行患者髂动脉狭窄的自然病史。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600006
Fernando Bocchino Ferrari, Nelson Wolosker, Ruben Aizyn Rosoky, Giuseppe D'Ippolito, Angela Maria Borri Wolosker, Pedro Puech-Leão
{"title":"Natural history of stenosis in the iliac arteries in patients with intermittent claudication undergoing clinical treatment.","authors":"Fernando Bocchino Ferrari,&nbsp;Nelson Wolosker,&nbsp;Ruben Aizyn Rosoky,&nbsp;Giuseppe D'Ippolito,&nbsp;Angela Maria Borri Wolosker,&nbsp;Pedro Puech-Leão","doi":"10.1590/s0041-87812004000600006","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600006","url":null,"abstract":"<p><strong>Purpose: </strong>Inspite of the long experience with the treatment of intermittent claudication, little is known about the natural history of stenotic lesions in the iliac segment. With the advent of endovascular treatment, this knowledge has become important.</p><p><strong>Methods: </strong>Fifty-two stenosis, diagnosed using arteriography, in 38 claudicant patients were analyzed. After a minimum time interval of 6 months, a magnetic resonance angiography was performed to determine whether there was arterial occlusion. The primary factors that could influence the progression of a stenosis were analyzed, such as risk factors (smoking, hypertension, diabetes, sex, and age), compliance with clinical treatment, initial degree of stenosis, site of the stenosis, and length of follow-up.</p><p><strong>Results: </strong>The average length of follow-up was 39 months. From the 52 lesions analyzed, 13 (25%) evolved to occlusion. When occlusion occurred, there was clinical deterioration in 63.2% of cases. This association was statistically significant (P = .002). There was no statistically significant association of the progression of the lesion with the degree or site of stenosis, compliance with treatment, or length of follow-up. Patients who evolved to occlusion were younger (P = .02). The logistic regression model showed that the determinant factors for clinical deterioration were arterial occlusion and noncompliance with clinical treatment.</p><p><strong>Conclusions: </strong>The progression of a stenosis to occlusion, which occurred in 25% of the cases, caused clinical deterioration. Clinical treatment was important, but it did not forestall the arterial occlusion. Prevention of occlusion could be achieved by early endovascular intervention or with the development of drugs that might stabilize the atherosclerotic plaque.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"341-8"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Human identification and analysis of DNA in bones. 人类骨骼DNA鉴定与分析。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600012
Edna Sadayo Miazato Iwamura, José Arnaldo Soares-Vieira, Daniel Romero Muñoz
{"title":"Human identification and analysis of DNA in bones.","authors":"Edna Sadayo Miazato Iwamura,&nbsp;José Arnaldo Soares-Vieira,&nbsp;Daniel Romero Muñoz","doi":"10.1590/s0041-87812004000600012","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600012","url":null,"abstract":"<p><p>The introduction of molecular biology techniques, especially of DNA analysis, for human identification is a recent advance in legal medicine. Substantial effort has continuously been made in an attempt to identify cadavers and human remains after wars, socio-political problems and mass disasters. In addition, because of the social dynamics of large cities, there are always cases of missing people, as well as unidentified cadavers and human remains that are found. In the last few years, there has also been an increase in requests for exhumation of human remains in order to determine genetic relationships in civil suits and court action. The authors provide an extensive review of the literature regarding the use of this new methodology for human identification of ancient or recent bones.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"383-8"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 51
Bethanecol chloride for treatment of clomipramine-induced orgasmic dysfunction in males. 氯比萘酚治疗氯米帕明诱导的男性性高潮障碍。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600008
Márcio Bernik, Antonio Hélio Guerra Vieira, Paula Villela Nunes
{"title":"Bethanecol chloride for treatment of clomipramine-induced orgasmic dysfunction in males.","authors":"Márcio Bernik,&nbsp;Antonio Hélio Guerra Vieira,&nbsp;Paula Villela Nunes","doi":"10.1590/s0041-87812004000600008","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600008","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate whether bethanecol chloride may be an alternative for the clinical management of clomipramine-induced orgasmic dysfunction, reported to occur in up to 96% of male users.</p><p><strong>Methods: </strong>In this study, 12 fully remitted panic disorder patients, complaining of severe clomipramine-induced ejaculatory delay, were randomly assigned to either bethanecol chloride tablets (20 mg, as needed) or placebo in a randomized, double-blind, placebo-controlled, two-period crossover study. A visual analog scale was used to assess severity of the orgasmic dysfunction.</p><p><strong>Results: </strong>A clear improvement was observed in the active treatment period. No placebo or carry-over effects were observed.</p><p><strong>Conclusion: </strong>These findings suggest that bethanecol chloride given 45 minutes before sexual intercourse may be useful for clomipramine-induced orgasmic dysfunction in males.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"357-60"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 13
Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency. 使用非放射性标记检测21-羟化酶缺乏症的大基因重排。
Revista do Hospital das Clinicas Pub Date : 2004-12-01 Epub Date: 2005-01-11 DOI: 10.1590/s0041-87812004000600010
Priscilla Cukier, Tânia A S S Bachega, Berenice B Mendonça, Ana Elisa C Billerbeck
{"title":"Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency.","authors":"Priscilla Cukier,&nbsp;Tânia A S S Bachega,&nbsp;Berenice B Mendonça,&nbsp;Ana Elisa C Billerbeck","doi":"10.1590/s0041-87812004000600010","DOIUrl":"https://doi.org/10.1590/s0041-87812004000600010","url":null,"abstract":"<p><strong>Purpose: </strong>To establish the Southern blotting technique using hybridization with a nonradioactive probe to detect large rearrangements of CYP21A2 in a Brazilian cohort with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21OH).</p><p><strong>Method: </strong>We studied 42 patients, 2 of them related, comprising 80 non-related alleles. DNA samples were obtained from peripheral blood, digested by restriction enzyme Taq I, submitted to Southern blotting and hybridized with biotin-labeled probes.</p><p><strong>Results: </strong>This method was shown to be reliable with results similar to the radioactive-labeling method. We found CYP21A2 deletion (2.5%), large gene conversion (8.8%), CYP21AP deletion (3.8%), and CYP21A1P duplication (6.3%). These frequencies were similar to those found in our previous study in which a large number of cases were studied. Good hybridization patterns were achieved with a smaller amount of DNA (5 mug), and fragment signs were observed after 5 minutes to 1 hour of exposure.</p><p><strong>Conclusions: </strong>We established a non-radioactive (biotin) Southern blot/hybridization methodology for CYP21A2 large rearrangements with good results. Despite being more arduous, this technique is faster, requires a smaller amount of DNA, and most importantly, avoids problems with the use of radioactivity.</p>","PeriodicalId":76453,"journal":{"name":"Revista do Hospital das Clinicas","volume":"59 6","pages":"369-74"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/s0041-87812004000600010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24908744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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