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4.
J Endocrinol Invest ; 31(7): 607-9, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18787377

RESUMEN

Here we report for the first time the results of the molecular study of 17 unrelated patients with salt-wasting (SW) congenital adrenal hyperplasia (CAH) belonging to a Sicilian ethnic group, as corroborated by patients' pedigree taken to include 2 generations in the paternal and maternal lineage. The aim of this report was to confirm that genetic basis of CAH may be characterized by population differences. In our series, the overall predominant mutation was IVS2A/C>G, that was detected in 50% of alleles and in 58.8% of patients. The allelic and homozygous frequencies of IVS2A/C>G, Del8bpE3, and R356W mutations were significantly higher in our series than in other populations. Our study population included 2 cases with 2 different mutations that have been recently reported for the first time, 3 cases with a double mutation on the same allele, and 1 case with homozygous de novo mutation. We concluded that: a) in a Sicilian ethnic group the most frequent genotype in SW CAH is IVS2A/C>G homozygocity; b) surprisingly Del8bpE3 and R256W homozygocity are also well represented.


Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Etnicidad/genética , Sodio/sangre , Esteroide 21-Hidroxilasa/genética , Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/etnología , Análisis Mutacional de ADN , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Fenotipo , Mutación Puntual , Sicilia , Cloruro de Sodio Dietético
6.
Cancer ; 78(2): 244-51, 1996 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-8673999

RESUMEN

BACKGROUND: A previous pilot study from our group suggested that: (1) adoptive immunotherapy (A1) with tumor-infiltrating lymphocytes (TIL) and recombinant interleukin-2 (rIL-2) may be applied with safety to more than 80% of the patients who had surgery for Stage III nonsmall cell lung carcinoma (NSCLC); and (2) AI could be useful in patients with locally advanced disease. The present randomized study was planned to assess the efficacy of AI in the postoperative treatment of Stage II, IIIa, or IIIb NSCLC: METHODS: TIL were expanded in vitro from tissue samples obtained from the surgically removed specimens of 131 patients. Eighteen cultures yielded no growth of TIL. The remaining 113 patients were stratified according to disease stage and randomized to receive AI or standard chemoradiotherapy. TIL were infused intravenously 6 to 8 weeks after surgery, rIL-2 was administered subcutaneously at escalating doses for 2 weeks, and then at reduced doses for 2 weeks and then for 2 to 3 months. RESULTS: Three-year survival was significantly better (P < 0.05) for patients who underwent AI than for controls. AI was of no benefit to patients with Stage II NSCLC, potentially useful to patients with Stage IIIa NSCLC (P = 0.06), and significantly advantageous to patients with Stage IIIb (T4) NSCLC (P < 0.01). For patients with Stage III NSCLC, local relapse (but not distant relapse) was significantly reduced following AI (P < 0.05). CONCLUSIONS: AI should be considered when designing future adjuvant therapy protocols for the treatment of NSCLC:


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/terapia , Inmunoterapia Adoptiva , Interleucina-2/uso terapéutico , Neoplasias Pulmonares/terapia , Linfocitos Infiltrantes de Tumor/inmunología , Neumonectomía , Antineoplásicos/uso terapéutico , Carcinoma de Pulmón de Células no Pequeñas/radioterapia , Carcinoma de Pulmón de Células no Pequeñas/cirugía , Terapia Combinada , Estudios de Seguimiento , Humanos , Infusiones Intravenosas , Inyecciones Subcutáneas , Interleucina-2/administración & dosificación , Interleucina-2/efectos adversos , Neoplasias Pulmonares/radioterapia , Neoplasias Pulmonares/cirugía , Persona de Mediana Edad , Análisis Multivariante , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/prevención & control , Estadificación de Neoplasias , Neoplasia Residual , Cuidados Posoperatorios , Tasa de Supervivencia , Resultado del Tratamiento
7.
J Thorac Cardiovasc Surg ; 109(6): 1212-7, 1995 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-7776685

RESUMEN

This study assesses the feasibility and toxicity of adoptive immunotherapy with tumor infiltrating lymphocytes and recombinant interleukin-2 in 29 patients who underwent resection for stage III non-small-cell lung cancer. In five patients cultures yielded no growth of tumor infiltrating lymphocytes. In the remaining 24 patients (stage IIIa, 14 cases; stage IIIb, 10 cases) tumor infiltrating lymphocytes were in vitro expanded from surgically obtained tissue samples, including samples from both the tumor and surrounding lung. A number of tumor infiltrating lymphocytes, ranging from 4 to 70 billion cells, were reinfused intravenously 4 to 6 weeks after operation. Interleukin-2 was administered subcutaneously at escalating does for 2 weeks and then at reduced doses for 2 to 3 months. Median survival was 14 months, and the 2-year survival was 40%. Three patients remain alive and disease-free at more than 2 years after operation. Two of these patients did not have complete resection at thoracotomy. Multivariate analysis showed no correlation between the factor of incomplete resection and survival. Intrathoracic recurrence without concomitant distant failure was documented in two patients only and none of the patients with incomplete resection (12 cases) had relapse within the thorax. The present experience demonstrates that adoptive immunotherapy may be applied with safety in patients operated on for stage III non-small-cell lung cancer and suggests that it can be useful, notably in patients with locally advanced disease.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/terapia , Inmunoterapia Adoptiva , Interleucina-2/uso terapéutico , Neoplasias Pulmonares/terapia , Linfocitos Infiltrantes de Tumor , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Carcinoma de Pulmón de Células no Pequeñas/cirugía , Terapia Combinada , Estudios de Factibilidad , Femenino , Humanos , Inmunoterapia Adoptiva/efectos adversos , Inmunoterapia Adoptiva/métodos , Neoplasias Pulmonares/mortalidad , Neoplasias Pulmonares/cirugía , Masculino , Persona de Mediana Edad , Análisis Multivariante , Proyectos Piloto , Proteínas Recombinantes/uso terapéutico , Tasa de Supervivencia
8.
Oncol Rep ; 1(2): 373-4, 1994 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21607368

RESUMEN

We describe a case in whom recurrent pneumonia was the presenting manifestation of a benign cystic teratoma of the mediastinum. Although the symptoms had developed over a 15-year period, the mass was not identified on the chest roentgenograrns up to the age of 22 years. CT demonstrated the extent of the mass, but failed in clarifying the cystic nature of the tumor and in providing diagnosis. The lesion could be safely approached through an antero-lateral thoracotomy, saving major chest wall muscles. However, surgical removal of the mass was difficult because of firm adherence to surrounding structures.

9.
Minerva Med ; 83(7-8): 415-9, 1992.
Artículo en Italiano | MEDLINE | ID: mdl-1522964

RESUMEN

Serum tissue polypeptide antigen (TPA) has been determined in 271 patients with pleural or pulmonary neoplastic diseases (131) or with benign lung diseases (140). Using a cut-off of 95 U/L, TPA has a sensitivity and specificity of 65%. Therefore, TPA serum determination can suggest a diagnosis of malignancy, but its evaluation, as a single test, is not useful to differentiate between malignant or benign disease. TPA can be useful as an ancillary test in the follow-up of lung cancer therapy.


Asunto(s)
Antígenos de Neoplasias/sangre , Biomarcadores de Tumor/sangre , Enfermedades Pulmonares/diagnóstico , Neoplasias Pulmonares/diagnóstico , Péptidos/sangre , Diagnóstico Diferencial , Estudios de Evaluación como Asunto , Femenino , Humanos , Neoplasias Pulmonares/secundario , Masculino , Enfermedades Pleurales/diagnóstico , Neoplasias Pleurales/diagnóstico , Neoplasias Pleurales/secundario , Sensibilidad y Especificidad , Antígeno Polipéptido de Tejido
10.
J Antimicrob Chemother ; 19(6): 791-3, 1987 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-3497151

RESUMEN

To evaluate the possible influence of a bacampicillin on the immune response, 16 subjects, out of a group of 60 patients with bacterial respiratory tract infections, had various tests of immune function determined, before and after treatment. The peripheral mononuclear blastogenic index (ratio between PHA-induced and spontaneous proliferation), PHA-induced interferon-gamma production, percentages of T and B lymphocytes, serum immunoglobulins (IgG, IgM, IgA) levels, failed to show any significative differences before and after the treatment with bacampicillin. The PHA-induced interleukin-2 production increased after treatment but just failed to reach statistical significance (0.1 less than P less than 0.05; t = 1.9). The clinical condition of 56 of the sixty (93.3%) treated patients improved and neither side-effects nor alterations of liver or kidney function were observed. This study has shown no inhibitory effect of bacampicillin on the immune response while confirming its clinical efficacy.


Asunto(s)
Ampicilina/análogos & derivados , Inmunidad/efectos de los fármacos , Adolescente , Adulto , Anciano , Ampicilina/farmacología , Femenino , Humanos , Interleucina-2/biosíntesis , Activación de Linfocitos/efectos de los fármacos , Masculino , Persona de Mediana Edad
11.
Respiration ; 50 Suppl 2: 240-4, 1986.
Artículo en Inglés | MEDLINE | ID: mdl-2951814

RESUMEN

The effect of the combination fenoterol-ipratropium bromide (Duovent) as a bronchodilator drug versus salbutamol and placebo was investigated in 20 patients with chronic obstructive lung disease in a random cross-over trial. Our study was performed not only to evaluate the bronchodilator response, but especially to quantify the possibly more prolonged action of Duovent versus salbutamol, based on registration of prevention of asthma attacks, time effects and protective activity, management and tolerance. Each patient received therapy for 3 weeks; in each week only one of the preparations: salbutamol, Duovent or placebo was used. Respiratory function tests were determined every week on the 3rd, 5th and 7th days at the same time exactly at 30 and 60 min after drug inhalation. Additionally we registered, for each patient, daily symptomatology (e.g., asthma attacks, cough, additional daily puff use, adverse reactions) by using a personal clinical diary. The results and analysis of the pulmonary tests (especially FEV1 and peak expiratory flow) confirmed the bronchodilator effect of both drugs, higher for Duovent but not sufficient to reach statistical significance. Clinical condition, regarding number, severity of asthma crises and additional puff use, showed a significant statistical variation for each symptom either as regards advantage of Duovent and salbutamol versus placebo, or advantage of Duovent versus salbutamol. Therefore, the results of this trial reveal an excellent bronchodilator effect of both drugs and confirm a higher clinical efficacy of Duovent if used in long-term treatment, with good tolerability.


Asunto(s)
Albuterol/uso terapéutico , Derivados de Atropina/uso terapéutico , Fenoterol/uso terapéutico , Ipratropio/uso terapéutico , Enfermedades Pulmonares Obstructivas/prevención & control , Resistencia de las Vías Respiratorias , Combinación de Medicamentos/efectos adversos , Combinación de Medicamentos/uso terapéutico , Tolerancia a Medicamentos , Fenoterol/efectos adversos , Volumen Espiratorio Forzado , Humanos , Ipratropio/efectos adversos , Enfermedades Pulmonares Obstructivas/fisiopatología , Ápice del Flujo Espiratorio , Factores de Tiempo
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