PubMed Health⌕ Search

Biomedical subjects

M Robledo

Publications and source records attributed to M Robledo.

72 records · Page 4Linked to original sources
PubMed1982

Host defense against experimental paracoccidioidomycosis.

An experimental model for the study of paracoccidioidomycosis was established in BALB/c mice. Both normal and athymic nu/nu animals were challenged intraperitoneally and intratracheally with yeastlike cells of Paracoccidioides brasiliensis. After challenge, all immunologically intact (+/+) mice survived, whereas nu/nu mice gradually succumbed. The latter had focal peritoneal, liver, spleen, and lung lesions consisting of P. brasiliensis with inflammation, polymorphonuclear leukocytes, monocytes, and histiocytic reactions, but no granuloma formation. Thymus transplantation heightened resistance of nu/nu mice to P. brasiliensis. These studies indicate that the nu/nu mouse develops progressive lethal paracoccidioidomycosis after intraperitoneal and intratracheal challenge, and that thymus-dependent immune mechanisms mediate host defense.

Animals↗
PubMed1976

Pathogenesis of paracoccidioidomycosis: a model based on the study of 46 patients.

Forty-six Paracoccidioidomycosis patients were studied with emphasis on lung pathology. It was found that the greatest clinical involvement of the reticuloendothelial system occurred in younger individuals. On the other hand, the frequency of tegumentary lesions was low in young patients and increased with age. Lung involvement was nearly always demonstrated when searched for and showed no relationship to the patient's age. In the young patients the disease was acute while in the older individuals its course was chronic. The findings from this study permitted formulation of a model for the pathogenesis of paracoccidioidomycosis in which the respiratory tract is accepted as the primary site of infection. Based on this model, a classification of the various forms of the entity is proposed.

Adolescent↗
PubMed1976

The gamut of paracoccidioidomycosis.

Paracoccidioidomycosis is a systemic mycosis of importance in Latin America. Because of its polymorphic manifestations, it is not always suspected and patients are sometimes misdiagnosed. Case histories of patients with paracoccidioidomycosis are presented in order to illustrate its various manifestations, with emphasis on the primary pulmonary localization.

Acute Disease↗
PubMed1976

Lobomycosis. Report of the eighth Colombian case and review of the literature.

The eighth Colombian case of lobomycosis and the one hundredth in the world literature is reported here. The patient was a 38-year-old female who showed a bilobed mass on the left forearm which had appeared at the site from where a similar lesion had been excised 19 years previously. She had always lived in a rural area, located in the humid subtropical forest. The tissue reactions to the fungus as well as the fruitless attempts to culture it are described. An analysis of the relevant literature is made and suggestions for experimental animal models are given in the text.

Adult↗
PubMedDate not supplied

Ketoconazole: a new drug for the treatment of paracoccidioidomycosis.

Ketoconazole was administered orally to 13 patients with paracoccidioidomycosis. Therapy consisted of 200 mg per day for periods ranging from three to 12 months. All patients improved markedly, with healing of pulmonary, mucosal, and skin lesions. Patients exhibiting the latter two manifestations began to improve two weeks after therapy, and healing occurred within three months. Pulmonary lesions regressed at a slower pace and healed by fibrosis. Mycologic tests have corroborated the clinical improvement. Adverse effects were not observed; monitoring of renal, hematologic, and hepatic functions did not reveal any abnormalities. Five patients completed a year of therapy and were free of symptoms when therapy was discontinued. Of these patients, four were followed for several months and had no relapses; the fifth patient developed tuberculosis and died. The results indicate that ketoconazole is a safe and effective drug for therapy in the treatment of paracoccidioidomycosis.

Adult↗
PubMedDate not supplied

Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosed in the second trimester.

OBJECTIVE: To describe the ultrasound findings and its relationship with the cytogenetic study and the origin of the extra haploid chromosome set in four 69,XXX cases. METHODS: Four pregnant women were referred because of abnormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were performed. RESULTS: All cases presented asymmetrical intrauterine growth retardation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set. CONCLUSIONS: At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to establish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin.

Adult↗
PubMedDate not supplied

Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.

OBJECTIVE: To analyse the discrepancy between the karyotype in direct preparations of chorionic villus sampling (CVS) and the fetal karyotype and its possible fetal phenotypic repercussion. METHODS: The karyotype was obtained from direct and cultured preparations of CVS. FISH was performed in direct CVS preparations and in four different areas of term placenta. RESULTS: Karyotype and FISH analysis in CVS revealed a 46,XX/47,XX,+i(11q) cell line. Cultured CVS preparations showed a 46,XX karyotype. Cytogenetic studies in term placenta did not reveal the abnormal cell line. Molecular studies did not detect uniparental disomy for chromosome 11 in the fetus. CONCLUSION: The fetus, at birth, had no phenotypic abnormalities. IUGR was not present during gestation, in accordance with the low proportion of aneuploid cells in term placenta, and UPD for chromosome 11 was not observed.

Adult↗
PubMedDate not supplied

[Spinocerebellar ataxia type VII (AEC 7). Report of a Spanish family with the disease].

INTRODUCTION: The dominant autosomic ataxias are a group of neurodegenerative disorders caused by expansion of a CAG triplet in different genes, found along the genome. The dominant autosomic ataxias present very varied clinical findings. However, genetic studies are being done to establish the genotype-phenotype relationship of the different autosomal dominant ataxias. CLINICAL CASE: A 50 year old man had alterations in gait, dysarthria and visual changes (retinal degeneration). Study of the different genes known to be responsible for the dominant autosomic ataxias have an expansion of the superior CAG of more than 37 repetitions of the gene SCA 7, whilst in the normal control population there are 9-18 repetitions of this gene. Other members of the family had similar clinical findings, although the age of onset varied. One did not have retinal degeneration but did have expansion of the SCA 7 gene. CONCLUSIONS: The non-pathological range of SCA 7 in the Spanish population, according to our study, is between 9-18 repetitions of triplet CAG, whilst in members of the patient's family they were over 37. The clinical findings, which were similar in all patients were found in all patients except for one, who did not have retinal degeneration. We observed the phenomenon of genetic anticipation in the family studied.

Aged↗
PubMedDate not supplied

[Identification of a de novo mutation in a patient without von Hippel-Lindau syndrome: clinical and diagnostic implications].

Von Hippel-Lindau (VHL) disease is characterized by a high predisposition to develop retinal angiomas, hemangioblastomas of the central nervous systems, renal cysts and renal carcinomas, pheochromocytomas, pancreatic cysts, and cystadenomas of the epididymis. The VHL gene was isolated in 1993; this fact allows to carry out presymptomatic diagnostic of this disease. We report on the case of patient with the suspicious++ and of hereditary VHL, although she had not familial history. By means of sequence the VHL gene was studied a mutation in exon 2 (GTT130CTT) that results in an amino acid change was found. This mutation could not be detected in her parents, pointing out that this is a de novo case. Patient has two sons, of 18 and 13 years old. The genetic analysis of the youngest showed that he was not a mutation carrier; while the eldest denied to be explored. The genetic study allows, in cases without familial history, to determine if they have the hereditary form of the disease and to study the siblings periodically until the beginning of the disease.

Adult↗