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1.
Br J Anaesth ; 122(2): 269-276, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30686313

RESUMO

BACKGROUND: Recruitment manoeuvres generate a transient increase in trans-pulmonary pressure that could open collapsed alveoli. Recruitment manoeuvres might generate very high inspiratory airflows. We evaluated whether recruitment manoeuvres could displace respiratory secretions towards the distal airways and impair gas exchange in a porcine model of bacterial pneumonia. METHODS: We conducted a prospective randomised study in 10 mechanically ventilated pigs. Pneumonia was produced by direct intra-bronchial introduction of Pseudomonas aeruginosa. Four recruitment manoeuvres were applied randomly: extended sigh (ES), maximal recruitment strategy (MRS), sudden increase in driving pressure and PEEP (SI-PEEP), and sustained inflation (SI). Mucus transport was assessed by fluoroscopic tracking of radiopaque disks before and during each recruitment manoeuvre. The effects of each RM on gas exchange were assessed 15 min after the intervention. RESULTS: Before recruitment manoeuvres, mucus always cleared towards the glottis. Conversely, mucus was displaced towards the distal airways in 28.6% ES applications and 50% of all other recruitment manoeuvres (P=0.053). Median mucus velocity was 1.26 mm min-1 [0.48-3.89] before each recruitment manoeuvre, but was reversed (P=0.007) during ES [0.10 mm min-1 [-0.04-1.00]], MRS [0.10 mm min-1 [-0.4-0.48]], SI-PEEP [0.02 mm min-1 [-0.14-0.34]], and SI [0.10 mm min-1 [-0.63-0.75]]. When PaO2 failed to improve after recruitment manoeuvre, mucus was displaced towards the distal airways in 68.7% of the cases, compared with 31.2% recruitment manoeuvres associated with improved PaO2 (odds ratio: 4.76 (95% confidence interval: 1.13-19.97). CONCLUSIONS: Recruitment manoeuvres dislodge mucus distally, irrespective of airflow generated by different recruitment manoeuvres. Further investigation in humans is warranted to corroborate these pre clinical findings, as there may be limited benefits associated with lung recruitment in pneumonia.


Assuntos
Manuseio das Vias Aéreas/métodos , Intubação Intratraqueal/métodos , Muco , Pneumonia Bacteriana/complicações , Animais , Modelos Animais de Doenças , Feminino , Pico do Fluxo Expiratório , Estudos Prospectivos , Pseudomonas aeruginosa , Troca Gasosa Pulmonar , Respiração Artificial , Mecânica Respiratória , Sus scrofa , Suínos
2.
Med Intensiva (Engl Ed) ; 45(2): 88-95, 2021 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31477342

RESUMO

OBJECTIVE: Based on some of the recommendations of the SEMICYUC working groups, we developed a checklist and applied it in 2 periods, analyzing their behavior as a tool for improving safety. DESIGN: A comparative pre- and post-intervention longitudinal study was carried out. SETTING: The Intensive Care Unit (ICU) of a 400-bed university hospital. PATIENTS: Random cases series in 2 periods separated by 6 months. INTERVENTIONS: We developed a checklist with 24 selected indicators that were randomly applied to 50 patients. Verification was conducted by a professional not related to care (prompter). We analyzed the results and compliance index and carried out corrective measures with training. With 6 months of preparation, we again applied the random checklist to 50 patients (post-intervention period) and compared the compliance indexes between the two timepoints. RESULTS: There were no differences in demographic characteristics or evolution between the periods. The compliance index at baseline was 0.86±0.12 versus 0.91±0.52 in the post-intervention period (P=.023). An acceptable compliance index was obtained with the 24 indicators, though at baseline the compliance index was<0.85 for 5 recommendations. These detected non-compliances were worked upon through training in the second phase of the study. The post-intervention checklist evidenced improvement in compliance with the recommendations. CONCLUSIONS: The checklist used to assess compliance with a selection of recommendations of the SEMICYUC applied and moderated by a prompter was seen to be a useful instrument allowing us to identify points for improvement in the management of Intensive Care Unit patients, increasing the quality and safety of care.

3.
J Cell Biol ; 74(3): 698-706, 1977 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20446

RESUMO

Washed mature spermatozoa from bulls incorporate ribonucleoside triphosphates into RNA using an endogenous template. Maximum incorporation was observed at 31 degrees C in the presence of MgCl2, all four ribonucleoside triphosphates, beta-mercaptoethanol, and glycine sodium hydroxide buffer at pH 9.0. The amount of synthesis was linearly dependent upon the concentration of spermatozoa and continued for at least 4 h. Digestion studies revealed the RNA to be present in a protected (intracellular?) location in the spermatozoa. The RNA synthesis was inhibited by ethidium bromide, rifampicin, acriflavine, actinomycin D, and caffeine, but not by alpha-amanitine or rifamycin SV. Fractionation of the spermatozoa by sonication and separation of the heads and tails by centrifugation through a discontinuous gradient revealed that more than half of the total RNA polymerase activity was associated with the tail fraction.


Assuntos
RNA Polimerases Dirigidas por DNA/metabolismo , Espermatozoides/enzimologia , Acriflavina/farmacologia , Amanitinas/farmacologia , Animais , Bovinos , Fracionamento Celular , Dactinomicina/farmacologia , Etídio/farmacologia , Concentração de Íons de Hidrogênio , Masculino , RNA/biossíntese , Rifampina/farmacologia , Cabeça do Espermatozoide/enzimologia , Cauda do Espermatozoide/enzimologia
4.
Rehabilitacion (Madr) ; 53(3): 169-180, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31370944

RESUMO

The standing devices are used as a preventive therapy for hip dislocation in patients with cerebral palsy. This review seeks to assess the effectiveness of standing devices in the prevention of hip dislocation of patients under 18 years old with a diagnosis of spastic cerebral palsy, GMFCS III-V. A systematic search was conducted in 10 biomedical databases, selecting randomized, quasi-experimental clinical trials and cohort studies. The use of standing devices with physical therapy, orthosis and/or soft tissue surgeries was compared. The percentage of migration of the femoral head was considered as the main result. The risk of bias was assessed using the Rob 2.0 and Robins I guidelines. As a result of the analysis of 6 primary studies, it is obtained that the use of standing devices maintained the percentage of migration of the femoral head within normal limits (MP:13-23%, p<.01), increased vertebral trabecular volumetric bone mineral density (8.16mg/cm3, p=.01), bone mineral content (p=.010) and hamstring muscle length (phase B1 p<.01 and B2 p=.03). However, the risk of bias in these studies was categorized as of some concern to moderate. In conclusion, it is stated that there is limited evidence of the effectiveness of the use of standing devices in the prevention of hip dislocation in the study population, due to the methodological heterogeneity and risk of bias of the included studies. A greater number of studies with a high level of evidence are required in order to generate a recommendation for its use. Registration in PROSPERO: CRD42018087641.


Assuntos
Paralisia Cerebral/complicações , Órtoses do Pé , Luxação do Quadril/prevenção & controle , Adolescente , Densidade Óssea , Criança , Estudos de Coortes , Cabeça do Fêmur , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Amplitude de Movimento Articular , Valores de Referência
5.
Clin Transl Oncol ; 9(8): 513-20, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17720654

RESUMO

Surgeons have routinely removed ipsilateral axillary lymph nodes from women with breast cancer for over 100 years. The procedure provides important staging information, enhances regional control of the malignancy and may improve survival. As screening of breast cancer has increased, the mean size of newly diagnosed primary invasive breast cancers has steadily decreased and so has the number of women with lymph node metastases. Recognising that the therapeutic benefit of removing normal nodes may be low, alternatives to the routine level I/II axillary lymph node dissection have been sought. A decade ago sentinel lymph node biopsy (SLNB) was introduced. Because of its high accuracy and relatively low morbidity, this technique is now widely used to identify women with histologically involved nodes prior to the formal axillary node dissection. Specifically, SLNB has allowed surgeons to avoid a formal axillary lymph node biopsy in women with histologically uninvolved sentinel nodes, while identifying women with involved sentinel nodes who derive the most benefit from a completion axillary node dissection. Despite the increasing use of SLNB for initial management of the axilla in women with breast cancer, important questions remain regarding patient selection criteria and optimal surgical methods for performing the biopsy. This article discusses the evolution of axillary node surgery for women with breast cancer.


Assuntos
Neoplasias da Mama/cirurgia , Excisão de Linfonodo , Axila/patologia , Axila/cirurgia , Neoplasias da Mama/fisiopatologia , Feminino , Humanos , Linfonodos/fisiopatologia , Linfonodos/cirurgia , Metástase Linfática/patologia , Estadiamento de Neoplasias , Biópsia de Linfonodo Sentinela
6.
Eur J Med Genet ; 49(6): 511-5, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16824814

RESUMO

Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families reported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callosum and psychomotor delay. The identification of recombinant individuals contribute to calculate a precise risk for inv (19) carriers and to provide a more accurate genetic counselling.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Inversão Cromossômica , Cromossomos Humanos Par 19/genética , Agenesia do Corpo Caloso , Anormalidades Craniofaciais/genética , Feminino , Retardo do Crescimento Fetal/genética , Cardiopatias Congênitas/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Microcefalia/genética , Mães , Gravidez , Transtornos Psicomotores/genética
7.
Med. intensiva (Madr., Ed. impr.) ; 45(2): 88-95, Marzo 2021. tab
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-221863

RESUMO

Objetivo Con algunas de las recomendaciones de los grupos de trabajo de la SEMICYUC elaboramos un checklist y lo aplicamos en 2 periodos. Analizamos su comportamiento como herramienta de mejora en la seguridad. Diseño Estudio longitudinal, comparativo pre- y postintervención. Ámbito Unidad de Cuidados Intensivos de un hospital universitario de 400 camas. Pacientes Serie de casos aleatorios en 2 periodos separados por 6 meses. Intervenciones Elaboramos un checklist con 24 indicadores seleccionados que aplicamos de forma aleatoria a 50 pacientes. La verificación fue conducida por un profesional no relacionado con el cuidado (prompter). Analizamos los resultados y el índice de cumplimiento y realizamos medidas correctoras con formación. Con 6 meses de preparación, aplicamos de nuevo el checklist aleatorio a 50 pacientes (periodo postintervención) y comparamos el índice de cumplimiento entre ambos. Resultados No observamos diferencias en características demográficas ni en la evolución entre periodos. El índice de cumplimiento en el periodo basal fue de 0,86±0,12 y en el periodo de postintervención de 0,91±0,52; p=0,023. Obtuvimos un índice de cumplimiento aceptable de los 24 indicadores, pero en el basal en 5 recomendaciones el índice de cumplimiento fue menor a 0,85. Estos incumplimientos detectados se trabajaron formativamente en la segunda fase. En el checklist postintervención observamos una mejoría en el cumplimiento de las recomendaciones. Conclusiones El checklist utilizado para comprobar el cumplimiento de una selección de recomendaciones de la SEMICYUC aplicado y moderado por un prompter fue un instrumento útil que permitió establecer puntos de mejora en la atención de los pacientes de una unidad de cuidados intensivos, aumentando la calidad y la seguridad. (AU)


Objective Based on some of the recommendations of the SEMICYUC working groups, we developed a checklist and applied it in 2 periods, analyzing their behavior as a tool for improving safety. Design A comparative pre- and post-intervention longitudinal study was carried out. Setting The Intensive Care Unit (ICU) of a 400-bed university hospital. Patients Random cases series in 2 periods separated by 6 months. Interventions We developed a checklist with 24 selected indicators that were randomly applied to 50 patients. Verification was conducted by a professional not related to care (prompter). We analyzed the results and compliance index and carried out corrective measures with training. With 6 months of preparation, we again applied the random checklist to 50 patients (post-intervention period) and compared the compliance indexes between the two timepoints. Results There were no differences in demographic characteristics or evolution between the periods. The compliance index at baseline was 0.86±0.12 versus 0.91±0.52 in the post-intervention period (P=.023). An acceptable compliance index was obtained with the 24 indicators, though at baseline the compliance index was<0.85 for 5 recommendations. These detected non-compliances were worked upon through training in the second phase of the study. The post-intervention checklist evidenced improvement in compliance with the recommendations. Conclusions The checklist used to assess compliance with a selection of recommendations of the SEMICYUC applied and moderated by a prompter was seen to be a useful instrument allowing us to identify points for improvement in the management of Intensive Care Unit patients, increasing the quality and safety of care. (AU)


Assuntos
Humanos , 34002 , Segurança , Lista de Checagem
9.
Int J Radiat Oncol Biol Phys ; 19(2): 371-5, 1990 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-2394616

RESUMO

The frequency and types of chromosome aberrations induced by ionizing radiation in cancer patients were evaluated in 24 cases studied just before and immediately after radiotherapy. The incidence of aberrant metaphases prior to treatment was 9.98% and increased significantly after treatment to 32.8%. The frequency of chromosome aberrations before radiotherapy was, with the exception of the cases of breast cancer and seminoma, significantly higher than that in our laboratory controls. A comparison of chromosome abnormalities observed before and after treatment indicated that dicentric translocations, rings, and reciprocal translocations increased by a factor of 23, 13, and 11, respectively, after radiotherapy. Ionizing radiation produces more asymmetrical than symmetrical chromosome aberrations and more two-break than one-break anomalies.


Assuntos
Aberrações Cromossômicas , Neoplasias/radioterapia , Adulto , Idoso , Neoplasias da Mama/genética , Neoplasias da Mama/radioterapia , Disgerminoma/genética , Disgerminoma/radioterapia , Feminino , Doença de Hodgkin/genética , Doença de Hodgkin/radioterapia , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/radioterapia , Masculino , Pessoa de Meia-Idade , Neoplasias/genética , Neoplasias Testiculares/genética , Neoplasias Testiculares/radioterapia , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/radioterapia
10.
Cytogenet Genome Res ; 106(2-4): 165-72, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15292587

RESUMO

In humans, the presence of supernumerary chromosomes is an unusual phenomenon, which is often associated with developmental abnormalities and malformations. In contrast to most animal and plant species, the extensive knowledge of the human genome and the ample set of molecular and cytogenetic tools available have permitted to ascertain not only that most human supernumerary chromosomes (HSCs) derive from the A chromosome set, but also the specific A chromosome from which most of them arose. These extra chromosomes are classified into six types on the basis of morphology and size. There are both heterochromatic and euchromatic HSCs, the latter being more detrimental. Most are mitotically stable, except some producing individual mosaicism. No information is available on the HSC transmission rate since extensive familial studies are not usually performed generally because of death of the relatives or lack of cooperation. The main B chromosome property failing in HSCs seems to be their population spread as polymorphisms, since most HSCs seem to correspond to extra A chromosomes or centric fragments spontaneously arisen in the analysed individual or one of his/her parents. However, we cannot rule out at this moment, that more intensive studies on population distribution and frequency of those HSCs most closely resembling B chromosomes (i.e. those heterochromatic and thus less detrimental) would reveal possible HSCs polymorphisms. Although HSCs cannot be considered B chromosomes, some of them might be a source for future B chromosomes. The best candidates would be heterochromatic HSCs, which might manage to drive in either sex. To ascertain this possibility, research on inheritance and population studies would be very helpful in combination with the powerful cytogenetic and molecular tools available for our species.


Assuntos
Cromossomos Humanos/genética , Humanos
11.
Pediatrics ; 79(2): 235-8, 1987 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-3543832

RESUMO

The prevalence rate of Chlamydia trachomatis in the vagina of prepubertal sexually abused children was examined. Additionally, the culture technique was compared to direct immunofluorescence assay (DFA) for diagnosing chlamydial infections in the vaginas of prepubertal children. The study group included 50 consecutive prepubertal girls examined for sexual abuse in an urban pediatric hospital's emergency room. Vaginal swabs were obtained for culture and direct immunofluorescence assays of C trachomatis and for gonorrhea culture. Of these, 8/47 (17%) of the Chlamydia cultures, 4/43 (9.3%) of the direct immunofluorescence assay specimens, and 0/49 gonorrhea cultures were positive for Chlamydia. All patients with positive findings by direct immunofluorescence assay also had positive chlamydial cultures. Of the four other patients with positive cultures for Chlamydia, two had negative findings by direct immunofluorescence assay and two had inconclusive results reported. Twenty-nine patients had a syphilis serologic study performed, and all had negative results. There was no significant difference between the Chlamydia-positive and -negative groups with regards to age, race, nature of the abuse, frequency of abuse, and symptoms or findings on physical examination. Although not statistically significant, children with cultures positive for C trachomatis reported rectal penetration five times and vaginal penetration twice as often as those children with C trachomatis-negative results. This study demonstrates a significant prevalence of vaginal chlamydial infections in sexually abused children. Vaginal cultures for C trachomatis should be included in the medical evaluation of sexually abused girls. The culture technique was superior to the direct immunofluorescence assay in this group of patients.


Assuntos
Abuso Sexual na Infância , Infecções por Chlamydia/microbiologia , Chlamydia trachomatis/isolamento & purificação , Vagina/microbiologia , Técnicas Bacteriológicas , Criança , Pré-Escolar , Feminino , Imunofluorescência , Humanos
12.
Am J Med Genet ; 104(1): 37-41, 2001 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-11746025

RESUMO

This report describes the fourth case of heritable 18p monosomy, which was ascertained by prenatal diagnosis. Cytogenetic analysis of amniotic fluid cells by G-banding showed an apparently distal 18p chromosome deletion and a derivative X chromosome resulting from a translocation between the X and Y chromosomes. Analysis of peripheral blood lymphocytes from the parents by G-banding revealed the same chromosome 18 deletion in the mother, who did not have the X/Y translocation. Comparative genomic hybridization (CGH) studies confirmed the loss of chromosome region 18p11.3-pter previously detected, and eliminated the presence of unbalanced reorganizations of other chromosome regions. No subtle translocation was detected by fluorescence in situ hybridization (FISH) studies using whole chromosome specific painting probes. This is a new report of a heritable 18p monosomy. Although in our case the mother had several minor congenital malformations, the loss of 18p11.3 band was not associated with any obvious phenotypic alteration in the fetus.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Adulto , Amniocentese , Feminino , Humanos , Cariotipagem , Hibridização de Ácido Nucleico , Gravidez , Translocação Genética , Cromossomo X , Cromossomo Y
13.
Am J Med Genet ; 101(2): 106-13, 2001 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-11391652

RESUMO

We have investigated the preferential bending of some chromosome sites in blood cultures from normal and chromosomally abnormal subjects. A total of 2,262 centromeric and 2,718 non-centromeric bends were recorded, and 69 non-centromeric sites were found not to bend at random. 15q11-13 bending was found to be the most frequent non-random autosomal bend. Bends on chromosomes may be remnants of a folded chromosome state in the nucleus, and may facilitate the preferential involvement of some chromosomal bands in structural reorganizations such as the isoacentric fragments, or contribute to the high frequency of interstitial deletions and isodicentric inversion duplications involving the 15q11-13 region.


Assuntos
Cromossomos Humanos/fisiologia , Células Sanguíneas/citologia , Células Cultivadas , Centrômero/genética , Centrômero/fisiologia , Bandeamento Cromossômico , Cromossomos Humanos/genética , Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 15/fisiologia , Feminino , Humanos , Masculino , Metáfase , Mitose , Modelos Biológicos
14.
Arch Pediatr Adolesc Med ; 154(2): 173-9, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10665605

RESUMO

OBJECTIVE: To determine whether pediatricians in managed care settings adhere to national guidelines concerning the provision of clinical preventive services. DESIGN: Surveys were mailed between September 1996 and April 1997 to all pediatricians practicing in a California group-model health maintenance organization. The survey asked pediatricians about their screening and education practices on 34 recommended services and the actions taken with adolescent patients who have engaged in risk behavior. RESULTS: The response rate was 66.2% (N = 366). Pediatricians, on average, screened 92% of their adolescent patients for immunization status and blood pressure; 85% for school performance; 60% to 80% for obesity, sexual intercourse, cigarette use, alcohol use, drug use, and seat belt and helmet use; 30% to 47% for access to handguns, suicide, eating disorders, depression, and driving after drinking alcohol; fewer than 20% for use of smokeless tobacco, sexual orientation, sexual and physical abuse, and riding a bike or swimming after drinking alcohol; and 26% to 41% for close friends' engagement in risk behavior. Pediatricians' assessment and education with adolescent patients who screened positive for risk behavior was particularly low. Female physicians, physicians who saw a greater proportion of older adolescents, and recent medical school graduates were more likely to provide preventive services. CONCLUSIONS: Pediatricians in this health maintenance organization provide preventive services to adolescent patients at rates below recommendations but at rates greater than physicians in other practice settings. Improvement is especially needed in the areas that contribute most to adolescent mortality and for patients who screen positive for a risk behavior.


Assuntos
Serviços de Saúde do Adolescente/estatística & dados numéricos , Educação de Pacientes como Assunto/estatística & dados numéricos , Pediatria/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Serviços Preventivos de Saúde/estatística & dados numéricos , Adolescente , Comportamento do Adolescente , California , Coleta de Dados , Sistemas Pré-Pagos de Saúde , Humanos , Assunção de Riscos
15.
Cancer Genet Cytogenet ; 58(2): 152-4, 1992 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-1551079

RESUMO

In a study of chromosome fragility carried out under folate and thymidine deficiency conditions, we observed a seven- to ninefold increase of the incidence of premature centromere divisions (PCDs) affecting all chromosomes. This early separation of centromeres is clearly a culture effect and distinct from PCD and centromere splitting (CS), which imply a defect in the centromere of one or more chromosomes.


Assuntos
Centrômero/ultraestrutura , Fragilidade Cromossômica , Metotrexato/farmacologia , Células Cultivadas , Centrômero/efeitos dos fármacos , Bandeamento Cromossômico , Sítios Frágeis do Cromossomo , Humanos , Cariotipagem , Valores de Referência , Timidina/metabolismo
16.
Cancer Genet Cytogenet ; 100(2): 111-3, 1998 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-9428353

RESUMO

A sequential fluorescence in situ hybridization (FISH) technique is described. This method allows the detection of up to eighteen chromosome pairs in consecutive hybridizations (8 steps) on the same metaphase using centromeric, whole chromosome painting, and single copy DNA probes with different fluorochromes. The technique may be used with diagnostic purposes in cases with poor cytogenetic material.


Assuntos
Citogenética , Hibridização in Situ Fluorescente/métodos , Células Cultivadas , Humanos , Neoplasias/genética , Diagnóstico Pré-Natal
17.
Cancer Genet Cytogenet ; 49(1): 107-11, 1990 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-2397463

RESUMO

The relationship between the presence of a high frequency of chromosome aberrations and a predisposition to cancer has been well established in the so-called chromosome instability syndromes. Chromosome instability is also present in a variety of patients affected by cancer, and sometimes in their healthy relatives. We present a cytogenetic study carried out in lymphocytes from 13 untreated bladder carcinoma patients (only four of them had a history of occupational exposure to mutagens). Percentages of aberrant metaphases were significantly higher in cancer patients than in controls. Of the total number of chromosome aberrations in cancer patients, 67.16% corresponded to major structural chromosome abnormalities, while 25.37% were gaps or breaks. Numerical abnormalities represented 7.46% of the total. The bands more frequently involved in chromosome rearrangements were 5q31 and 1q32. Our results tentatively indicate that a significant proportion of patients with bladder carcinoma may have an underlying inherent chromosome instability. An age effect cannot be excluded, but we did not find significant differences between patients over 50 years of age and patients under 50 years of age.


Assuntos
Fragilidade Cromossômica , Neoplasias da Bexiga Urinária/genética , Adulto , Idoso , Bandeamento Cromossômico , Suscetibilidade a Doenças , Feminino , Humanos , Cariotipagem , Masculino
18.
Cancer Genet Cytogenet ; 41(1): 61-70, 1989 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-2766252

RESUMO

A total of 660 breakpoints were identified in the chromosome aberrations detected in lymphocytes from cancer patients after radiotherapy. The results show that chromosomes 1, 3, and 7 were significantly more affected than other chromosomes by ionizing radiation in vivo. Chromosome arms 1p, 1q, 7q, and 11p were also significantly more affected. Some bands also showed a special sensitivity to radiation, and band 1q32 was the most affected. This band is proposed as a "hot point" for the clastogenic effect of ionizing radiation. A significant clustering of breakpoints in G bands was also found, especially at the telomeres, as previously described by other authors. Clustering of breakpoints was also observed in bands where fragile sites, protooncogenes, breakpoints involved in chromosomal cancer rearrangements, and breakpoints involved in chromosomal evolution of the Hominoidea are located.


Assuntos
Aberrações Cromossômicas/efeitos da radiação , Neoplasias/radioterapia , Adulto , Idoso , Bandeamento Cromossômico , Feminino , Marcadores Genéticos , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Neoplasias/genética
19.
Cancer Genet Cytogenet ; 127(1): 59-63, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11408067

RESUMO

We used comparative genomic hybridization to analyze 10 primary tumor samples from patients with transitional cell carcinoma of the renal pelvis. The most frequent loss was located at 9q, that is, in 50% of the tumors. Gains of DNA sequences were most frequently observed in chromosome regions 1q21 approximately q23, 2p23 approximately p25, 8q21.1 approximately q22 and in the whole chromosome 20. High level amplifications at 1q21 approximately q25, 6p22 approximately p23, 8q21 approximately q22, 8q22 approximately q24.1, 11q13, and 12q14 approximately q21 were detected. Most of these regions have previously been reported to be involved in transitional cell carcinoma of the bladder, thus confirming the importance of an increasing number of chromosome imbalances in the development and progression of this type of tumors.


Assuntos
Carcinoma de Células de Transição/genética , Aberrações Cromossômicas/genética , Neoplasias Renais/genética , Pelve Renal , Hibridização de Ácido Nucleico/genética , Idoso , Idoso de 80 Anos ou mais , Transtornos Cromossômicos , Citogenética/métodos , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias
20.
Early Hum Dev ; 26(2): 93-9, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1743121

RESUMO

Human fragile sites are only very rarely expressed spontaneously. In this paper we report the presence of non-random spontaneous chromosome lesions (CL) in chorionic villus samples and their coincidence with fragile site (FS) bands. The average number of CL was about 9% both in RPMI-1640 and in Chang media. To determine any possible influence of external factors other than culture media, the results were grouped according to age of gestation. No differences were observed among the different groups. A total of 101 chromosome lesions could be precisely identified by sequential Leishman Staining/Wright G-banding; 76.2% of them coincided with FS-bands. The most affected region was at 1q12-1q21.1 (15.8% of total CL); other FS with a clustering of breakpoints in our study were 1p36, 1q44, 2q37, 3p24, 3q27, 10q22 and 16q23. These results suggest that spontaneous expression of some FS could be a characteristic of embryonic tissues.


Assuntos
Vilosidades Coriônicas/embriologia , Fragilidade Cromossômica , Células Cultivadas , Vilosidades Coriônicas/ultraestrutura , Sítios Frágeis do Cromossomo , Feminino , Idade Gestacional , Humanos , Cariotipagem , Gravidez
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