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M Pons

Publications and source records attributed to M Pons.

155 records · Page 9Linked to original sources
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Chimeric receptors as a tool for luminescent measurement of biological activities of steroid hormones.

Some applications of chimeric cellular models are presented to study the biological activities of steroid hormones. We have used several chimeric constructs encoding the DNA binding domain of Gal4 yeast protein fused to the hormone binding domain of various steroid receptors (MR, PR, GR and ER). Interactions of these chimeric receptors with a 17-mer DNA sequence, specific for Gal-4, control expression of the firefly luciferase as a reporter gene. Stable transfected cell lines expressing the firefly luciferase under the control of different steroids were established and an efficient and easy sub-cloning was allowed with the help of an imaging system using a single-photon-counting camera. In the cell lines obtained, the bioluminescent response can be easily measured and thus used to measure specific biological activities of steroid agonists or antagonists. We observed that the responses are effector-concentration-dependent and their biological activities will be compared to those of native receptors.

Animals↗
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An atypical French form of pyruvate carboxylase deficiency.

A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described. The initial neonatal symptoms started with respiratory distress, severe metabolic acidosis and a tendency to hypoglycemia. However, the clinical course was not rapidly deteriorating. At the age of 6 months he presented acute neurological symptoms, respiratory difficulty, lactic acidosis and hyperammonemia. Amino and organic acid abnormalities strongly suggested pyruvate carboxylase deficiency, which was confirmed by enzymatic studies in cultured fibroblasts and liver necropsy. Progressive deterioration and bronchopneumonia with cardiac failure and renal insufficiency led to death. Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed. The neonatal clinical presentation, biochemical abnormalities, and the presence of periventricular cysts suggested a French phenotype. However, the clinical course was less severe, suggesting a residual enzymatic activity and a possible milder mutation.

Amino Acids↗
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The action of Triton X-100 and sodium dodecyl sulphate on lipid layers. Effect on monolayers and liposomes.

The action of two detergents, Triton X-100 and sodium dodecyl sulphate (SDS), on large, unilamellar liposomes was determined as liposome size variation, polydispersity and ability to release a soluble marker from liposomes. Triton X-100 produced stronger effects than SDS. Nevertheless, these differences in behaviour of such detergents could not be deduced from the interaction of the detergents with monolayers of the same composition as liposomes.

1,2-Dipalmitoylphosphatidylcholine↗
PubMedDate not supplied

[Neurofibromatosis type 2 as a result of a de novo mutation: a case report].

INTRODUCTION: Neurofibromatosis type 2 is a dominant autosomic hereditary disease which courses with distinct tumours of the central nervous system and scant cutaneous manifestations. The increased knowledge of the natural history and the genetics of NF 2 acquired over the past few years has shown that clinical onset possibly occurs during the paediatric age and an early diagnosis of these patients can be decisive in the final outcome. CLINICAL CASE: A 12 year old girl who visited the clinic because of a month old presentation of cervical tumour, otalgia and dysphonia. Exploration revealed signs of cranial nerve disorder and the magnetic resonance (MR) showed bilateral schwannomas of the eighth cranial nerves. The extension study showed ocular, auditory, troncoencephalic and cervical spinal cord disorders. The patient died three months after hospital admission. The genetic study showed a de novo mutation in the NF 2 gene (chromosome 22q12). DISCUSSION: The identification of the various mutations that cause NF 2 has enabled the early diagnosis of the patient s relatives. However, there are still patients who have not been confirmed genetically. Furthermore, de novo mutations are not predictable. NF 2 diagnosis is still clinical. In the last few years, two disease phenotypes have been defined: mild and moderate/serious, which is associated with an early onset and de novo mutations. The high incidence rate of cataracts and other associated tumours, such as those affecting paraspinal and cutaneous areas together with meningiomas, which up until now could have gone unnoticed, has also been observed. Clinical onset in the paediatric age is more frequent than was expected and shows distinct and subtle symptoms.

Adult↗
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Offices of cures.

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Balneology↗
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Anastrozole as neoadjuvant therapy for patients with hormone-dependent, locally-advanced breast cancer.

BACKGROUND: We investigated the efficacy and safety of anastrozole as neoadjuvant therapy in a group of postmenopausal patients with locally-advanced breast cancer. PATIENTS AND METHODS: This was an open-label trial, which recruited patients with histopathologically-confirmed unilateral, locally-advanced, estrogen-receptor-positive breast cancer (stage IIIA/B). All patients received anastrozole 1 mg/day for 3 months, after which the clinical response was evaluated. All patients with a complete or partial clinical response (cCR or cPR) underwent surgery (radical modified mastectomy), after which patients continued with the same therapy for two years or until progression. Primary end points were clinical response rate (cCR + cPR), surgery rate, pathological complete response rate and tolerability profile. RESULTS: cCR and cPR were seen in 61/112 (54.5%) and 32/112 (28.6%) patients (n=112), respectively, giving an objective response rate of 93/112 (83%) patients. Following surgery in responding patients, 14/61 patients (23%) had a pathological CR and 47/61 (77%) patients had a pathological PR. CONCLUSION: Neoadjuvant anastrozole treatment was highly effective and well-tolerated in postmenopausal women with hormone-dependent locally-advanced breast cancer.

Aged↗
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[Preoperative chemotherapy and total parenteral nutrition in colon cancer].

AIM: The objective of this study was to determine the effect of TPN after surgery in patients with colon carcinoma and preoperative chemotherapy. MATERIAL AND METHOD: The study included 27 patients, 16 men and 11 women, with a mean age of 62.1 +/- 11.2 years. The patients were divided into two groups according to whether they had undergone chemotherapy (Group A; n = 11) or not (Group B, control; n = 16) prior to surgery. Almost two thirds of the patients were in stage III of the disease. Among those receiving this treatment, 60% were given 5-fluorouracil plus leucovorin at a dose of 5.5 +/- 2.7 cycles/patient and the others received different regimens. TPN was established early with a mean of 11.7 +/- 9.2 days. The clinical and nutritional assessment was performed before surgery and at the end of TPN administration. RESULTS: The mean body mass index (BMI) was 24.1 +/- 2.2 kg/m2. Comparison between the groups before the start of TPN showed statistically significant differences in red blood cell and platelet counts (P = .013 and P = .02, respectively). These differences had disappeared at completion of TPN, suggesting that this treatment can reverse the hematological changes induced by chemotherapy. CONCLUSION: In patients who receive chemotherapy before surgery and in whom TPN it was indicated the combination of these two treatments could be beneficial.

Colonic Neoplasms↗
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[Evaluation of 1200 venous catheterizations in reanimation].

The authors present a series of 1247 venous catheterizations during resuscitation, the latter being carried out under particularly strict aseptic conditions. This series contains especially: - 364 internal jugular catheterizations; - 223 subclavian catheterizations; - 130 femoral catheterizations. The total number of days of infusion is 6300, of which 3,619 were of prolonged parenteral feeding. 79.5 p. 100 of the catheters cultured proved to be sterile; in the case of those cultures which were positive, 6.5 p. 100 were due to pathogenic organisms, 13.9 p. 100 were due to saprophytes. On the whole, 7 septicemies of venous origin (0.56 p. 100 of all of the catheterizations) were observed. The détailed study of each route shows that the frequency of cultures of pathogen positive catheters is practically the same in all cases. On the other hand, the frequency of cultures of catheters positive with saprophytes is evidently higher for the internal jugular vein; this being particularly true in the male where the role of the beard as a contaminating factor is evoked. The importance of asepsis in the procedure of putting venous catheters in place and in their maintenance seems to be welle demonstrated by the results presented.

Catheterization↗