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Biomedical subjects

F Richard

Publications and source records attributed to F Richard.

268 records · Page 15Linked to original sources

beta-O-thalassemia from Algeria: genetic and molecular characterization.

beta-Thalassemia is a major public health problem in Algeria. During a survey, a family including two cases of betaO-thalassemia was studied. The family study indicated that two of the affected siblings had homozygous beta-thalassemia; there were also both normal and heterozygous siblings, and both parents had beta-thalassemia trait. In the two cases of betaO-thalassemia there was no hemoglobin A in the peripheral blood, and no beta-globin chain synthesis in whole cell incubations. Hybridization of purified complementary DNA specific for alpha- and beta-globin messenger RNAs demonstrated less than 1% mRNAbeta relative to mRNAalpha in circulating reticulocytes, and for one case in total RNA from bone marrow. There is no apparent beta-globin gene deletion as determined by hybridization in globin cDNAbeta sequence excess. Therefore the Algerian cases studied are similar in molecular pathology to some Southern Italian and Asian cases described previously, and differ from other Italian and Chinese betaO-thalassemias, in which hybridizable mRNAbeta has been demonstrated, and from deltabetaO-thalassemia, which is caused by a gene deletion.

Algeria↗

Effect of the angiotensin I-converting enzyme I/D polymorphism on cognitive decline. The EVA Study Group.

Several clinical, epidemiological, and pathological observations suggest that vascular risk factors are associated with cognitive performances. The renin-angiotensin system components, major determinants of the cardiovascular system, are expressed in the brain. To estimate their potential impact on cognitive performances, we studied the association between cognitive functioning and an insertion/deletion (I/D) polymorphism of the angiotensin I-converting enzyme (ACE) gene. In a sample of 1168 highly performing subjects (59-71 years), DD homozygotes had the lowest cognitive scores as evaluated by the Mini-Mental State Examination. Cognitive decline at 4-year follow-up (defined as the loss of at least 3 points in Mini-Mental State Examination score) was more prevalent in these subjects, the odds ratio being equal to 1.53 (95% CI: 1.04-2.24) with subjects ID as reference class. Moreover, the combined effect of the presence of at least one APOE epsilon4 allele and ACE DD homozygosity was a risk factor for cognitive decline. This report reinforces the hypothesis of an influence of cardiovascular risk factors on cognitive performances.

Age Distribution↗

[Malignant fibrous histiocytoma of soft tissue: atypical presentations. Value of combined surgery and chemotherapy].

The authors report five cases of malignant fibrous histiocytoma of the soft tissues, some of them with atypical presentation (necrotizing tumor, hypereosinophilic syndrome, dermatomyositis). This is the first case of polymyositis associated with malignant fibrous histiocytoma. The tumor occurs between the fifth and the seventh decade, principally as a mass on the proximal lower limb. Local recurrence and metastasis occurs in 50% of patients. Prognosis is dependent on both the surgical possibilities and the characteristics of the tumor (site, size, histologic grade). Surgery alone is inadequate. Adjuvant chemotherapy improves the 5-year survival.

Adult↗

[Ureteral manifestations of collagen diseases (author's transl)].

Ureteral lesions are rarely observed during the course of collagen diseases, and when they do occur, are specific localizations of these disorders. Diagnosis is made by intravenous urography. This usually demonstrates uni- or bi-lateral segmentary stenoses that may be calcified, with the lesions being most frequently present in the lumbar region. In rare cases there is dilatation of the "necklace of pearls" type. The stenosis usually increases in severity, especially when corticotherapy is reduced, and resection of the affected ureteral segments may be necessary.

Adolescent↗

[Cis-platinum in the treatment of disseminated testicular neoplasms resistant to classical chemotherapy].

Seven patients with advanced testicular tumors, resistant to existing chemotheurapeutic agents, were treated with a new antitumor agent, the Cisplatinum (associated to mannitol induced hyperdiuresis). There were 3 objective remissions (1 complete and 2 partial). Major toxicity was gastrointestinal. There was little renal and hematologic toxicity in our serie. The drug may have use in combination therapy in advanced non seminomatous testicular tumors.

Adult↗

[Adaptation and validation in the French language of the International Score of Symptoms of Benign Prostatic Hypertrophy].

The International Prostate Symptom Score, which was proposed during the First Consultation on Benign Prostatic Hyperplasia in June 1991, was culturally adapted and linguistically validated in French. In a first step, the English version, adapted from the questionnaire developed by the American Urological Association, was translated into French. In a second step, the French version was submitted to a multidisciplinary group who made linguistic improvements. In a third step, the refined version was tested in 30 persons and amended. Finally, the questionnaire was submitted to a linguistic validation study in a representative sample of 100 men aged 65 to 80. The use of this index will allow standardized measurements of urinary symptoms status in patients with benign prostatic hyperplasia.

Aged↗

[Palliative chemotherapy with 5 FU and CPM in cancer of the prostate with bone metastases resistant to oestrogens. A clinical trial (author's transl)].

The efficacy of an association of cyclophosphamide (CPM) and 5-fluorouracil was studied in 15 patients with prostate cancer not responding to oestrogen therapy, and more particularly its effect on pain due to bone metastases. No objective improvement was noted with this association, but there was a definitite reduction in bone metastases pain in 5 of the patients, with an average remission time of 4 months. Half of the patients had nausea and vomiting, but in spite of this digestive intolerance those patients who obtained pain relief for 4 months considered the treatment to be of positive value. This therapy is recommended only fater the failure of castration, anti-androgens, and oestrogens, together with nitrogen mustard (Estracyt) and corticotherapy.

Bone Neoplasms↗