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C Lopes

Publications and source records attributed to C Lopes.

54 records · Page 3Linked to original sources
PubMed1994

An integrated YAC-overlap and 'cosmid-pocket' map of the human chromosome 21.

We describe here the construction of an ordered clone map of human chromosome 21, based on the identification of ordered sets of YAC clones covering > 90% of the chromosome, and their use to identify groups of cosmid clones (cosmid pockets) localised to subregions defined by the YAC clone map. This is to our knowledge the highest resolution map of one human chromosome to date, localising 530 YAC clones covering both arms of the chromosome, spanning > 36 Mbp, and localising more than 6300 cosmids to 145 intervals on both arms of the chromosome. The YAC contigs have been formed by hybridising a 6.1 equivalents chromosome 21 enriched YAC collection displayed on arrayed nylon membranes to a series of 115 DNA markers and Alu-PCR products from YACs. Forty eight mega-YACs from the previously published CEPH-Genethon map of sequence tagged sites (STS) have also been included in the contig building experiments. A YAC tiling path was then size-measured and confirmed by gel-fingerprinting. A minimal tiling path of 70 YACs were then used as probes against the 7.5 genome equivalents flow sorted chromosome 21 cosmid library in order to identify the lists of cosmids mapping to alternating shared--non-shared intervals between overlapping YACs ('cosmid pockets'). For approximately 1/5 of the minimal tiling path of YACs, locations and non-chimaerism have been confirmed by fluorescence in situ hybridisation (FISH), and approximately 1/5 of all cosmid pocket assignments have independent, confirmatory marker hybridizations in the ICRF cosmid reference library system. We also demonstrate that 'pockets' contain overlapping sets of cosmids (cosmid contigs). In addition to being an important logical intermediate step between the YAC maps published so far and a future map of completely ordered cosmids, this map provides immediately available low-complexity cosmid material for high resolution FISH mapping of chromosomal aberrations on interphase nuclei, and for rapid positional isolation of transcripts in the highly resolved regions of genetic interest.

Chromosome Mapping↗
PubMed1994

[Treatment of acute promyelocytic leukemia with trans-retinoic acid. Experience of the Santa Maria Hospital, Medical School of Lisbon].

Acute promyelocytic leukemia (APL) is a rare subtype of acute myelogenous leukemia that is usually associated with a fatal hemorrhagic diathesis. All trans-retinoic acid (ATRA) is an active metabolite of vitamin A that differentiates the malignant cell clone, corrects the coagulopathy, and induces complete remission in the vast majority of patients with APL. Between June 1992 and September 1993, 8 patients with APL (4 previously untreated, 3 in first relapse and 1 in second relapse) received ATRA. Complete remission was achieved in 7 patients; in 5 with ATRA alone and in 2 with ATRA followed by cytotoxic chemotherapy due to the development of asymptomatic hyperleukocytosis. The earliest signs of response were the correction of the coagulopathy and an increase in the white blood cell count. Sequential morphological and immunophenotypical analyses of the bone marrow revealed differentiation of the malignant cell clone, in the absence of bone marrow hypoplasia. 4 of 5 patients treated only with ATRA until complete remission had late leukopenia. The most frequent adverse effects were dryness of skin and mucosae, hypertrigliceridemia and hypercholesterolemia, and a moderate increase in liver transaminases. An increase in the white blood cell count was common, and in two cases exceeded 35.0 x 10(9)/l. One of these patients developed multiple thrombosis of the extremities after cytotoxic chemotherapy. We frequently observed an increase in lactic dehydrogenase levels that was concomitant with the peak in the white blood cell count. The only patient on whom complete remission was not achieved was 60 years old, had chronic obstructive pulmonary disease, and died in the third week of therapy with a pulmonary distress syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

[Free thrombi in the left atrium. Report of a clinical case].

The authors describe a case of a floating thrombus in the left atrium, detected by a 2D echocardiography in a female patient suffering from dilated cardiomyopathy. At the follow-up, it was found that the mass was no longer detected inside the left atrium. This occurrence was not associated to any major embolic phenomena. A transesophageal echocardiographic study revealed the presence of a thrombus in the left atrial appendage.

Echocardiography, Transesophageal↗
PubMed1992

Immunohistochemical analysis of ras oncogene p21 product in human gastric carcinomas and their adjacent mucosas.

In an attempt to clarify the relationship between ras oncogene expression and the clinico-pathological features of malignant and pre-malignant lesions of the stomach we undertook the immunohistochemical study of the expression of ras gene p21 product in a series of eighty gastric carcinomas and their respective adjacent mucosas. In two cases the mRNA of Ha-ras was also studied by in situ hybridization. The majority of gastric carcinomas as well as their adjacent non-neoplastic mucosas expressed ras gene product. There was a significant relationship between the expression of ras gene p21 product and the morphologic pattern of the tumours. An enhanced ras expression was found in several conditions regarded as precursor lesions of intestinal and/or diffuse types of gastric carcinoma (dysplasia, foveolar hyperplasia and even the neck zone of normal-appearing gastric glands, namely in the mucosa adjacent to diffuse carcinomas). Ras expression was actually more prominent in most of these conditions than in their respective adjacent carcinomas. No significant relationship was found between ras expression and invasiveness of the wall, nodal metastases and venous invasion.

DNA, Neoplasm↗
PubMed1992

[Spinal brucellosis. 4 years of experience].

The Authors retrospectively studied 17 patients who have been admitted to the Infectious Diseases Clinic of Coimbra University Hospital during a four year period and whose final diagnosis was brucellar spondylitis. Clinical, epidemiological, laboratory and imaging features are analyzed, as well as those related to the therapeutic schedules and outcome. Females were more often affected (70.58%) and the mean age was 53.35 +/- 13.82 years. Lumbar spine was most frequently involved and an unusual elevated incidence of paravertebral soft tissue swelling was noticed (23.52%). Two patients were also suffering from neurobrucellosis (11.76%). The preferred therapeutic schedule was rifampin and doxycycline and surgery was performed in one patient. Finally, several comments are made regarding basically the incidence, laboratory and imaging diagnosis, therapeutic aspects and evolution of the disease. The imaging similarities and differences between tuberculous, pyogenic and brucellar spondylitis are briefly approached.

Adult↗
PubMed1991

Familial gastric polyposis revisited. Autosomal dominant inheritance confirmed.

We update and review a large pedigree originally described by Santos and Magalhães with familial gastric polyposis and a high incidence of gastric cancer. The present observation of male-to-male transmission of the disease clearly demonstrates the autosomal dominant pattern of inheritance. The histologic review of the polyps present in several members of the family allowed the diagnosis of hyperplastic polyposis. Eight members of the family (two with concomitant gastric pathology) have severe cutaneous psoriasis. This finding may represent the existence of two different disorders segregating in the family or, alternatively, pleiotropic manifestations of the same gene.

Adenocarcinoma, Mucinous↗
PubMed1987

Prenatal screening and pregnant women's attitudes toward the abortion of defective fetuses.

We studied the attitudes of 490 pregnant women toward the abortion of defective fetuses. Three hundred of these women were participating in a prenatal screening program for neural tube defects. Although theoretical accounts of the effects of behavior on attitude would suggest that participation in a screening program would affect abortion attitudes, evidence in support of such an association was weak. The overwhelming majority of women, regardless of whether they had participated in the screening program, believed that women are justified in having an abortion in the face of fetal abnormality. There was a sharp increase in the number of screening program participants who said they would have an abortion when the probability of the fetus being affected with a neural tube defect rose from 95 per cent to 100 per cent.

Abortion, Induced↗
PubMed1977

Pancreatic ascites. Calcification as a clue to diagnosis.

Pancreatic ascitis in a 31-year old black male is described. The diagnosis was suspected by the presence of pancreatic calcifications and confirmed by an elevated ascitic fluid amylase and protein content. Ascites was successfully treated by caudal pancreatectomy followed by a Roux-en-y pancreatojejunostomy.

Adult↗
PubMedDate not supplied

[Phlebectasis of the external jugular vein].

Phlebactasia of the external jugular vein is a rare nosological entity. Few reports appeared in the world literature. Clinically it presents as a cervical mass enlarging with a Valsalva maneuver. The Authors present one clinical case, emphasizing the possibilities of Computed Tomography (CT) in a precise diagnosis, etiological and topographical, without using other invasive modalities.

Dilatation, Pathologic↗
PubMedDate not supplied

[Collapse of the aortic valve in dilated myocardiopathies: echocardiographic study].

In order to clarify the early systolic partial closure (notching) of aortic valve in patients (pts) with dilated cardiomyopathy (DC), authors (AA) evaluated the M-mode echocardiograms corresponding to 41 pts with DC. Pts were separated in two groups, according to the presence of systolic notching: group A (18 pts) presenting systolic notching; group B (23 pts) in which no systolic notching was observed. For each group, the same echocardiographic parameters were evaluated related to aortic root, left atrium, left ventricule (LV), aortic valve and mitral valve. Both groups were compared statistically. Results--Group A presented a reduced motion of aortic root and greater initial maximal aortic cuspids separation. AA therefore conclude that in pts with DC the systolic notching has no eventual relation with mitral regurgitation. In this setting no conclusions about LV function can be inferred, and it is suggested that systolic notching may bear some relation with differences in the distribution of transvalvular aortic flow.

Adult↗
PubMedDate not supplied

[Familial cancer of the breast].

Genetic, cultural and environmental factors are influences shared in familial breast cancer. The objective of this study was to evaluate the prevalence of familial breast cancer and its association with social and clinical characteristics of women. A hospital-based descriptive study was made, and 300 patients with the diagnosis of breast cancer, made in 1992, were investigated. 17,4% of the women had a history of familial breast cancer. The presence of a positive history for familial breast cancer was associated with high social level for post-menopausal women. Age at diagnosis was older for women whose affected relative was their sister, not their mother. The need for the continuing efforts of epidemiologists, pathologists and geneticists to recognize the explanatory model of the disease is emphasized.

Breast Neoplasms↗