RESUMEN
AIM: The aim of this study was to develop a pharmacogenetic- (PGx) driven approach for a controlled ovarian hyperstimulation (COH) treatment protocol used for in vitro fertilization procedures. The enrolled patients were genotyped for a single nucleotide polymorphism (SNP) N680S, within the FSHR. METHODS: Seventy-eight women, who had previously received at least two COH cycles without positive fertilization with FSH and AMH values <10 mUI/mL and >0.3 ng/mL respectively were enrolled. They were genotyped for N680S and then categorized in high (HR), intermediate (IR), and poor responders (PR). Each subgroup received a tailored FSH treatment of 100, 225, and 400 UI/mL, respectively. The response was evaluated considering differences with previous COH cycle in terms of number of follicles (FR), oocytes (OR), and embryos produced (EMB). RESULTS: With regards to the endpoint considered comparing the non-PGx with the PGx approach, for what regards the FR a statistically significant increase of their numbers was observed with the PGx-tailored approach (HR P<0.0001; IR P=0.00892; PR P=0.0032). Similar statistical significant results were also achieved for OR but only for HR (P<0.0001) and IR (P=0.00169). Last but not least for the EMB (HR P<0.001; IR P=0.00670 and PR P<0.0001) all the different genotype considered achieved a statistical significance. CONCLUSION: This study, although with a limited number of enrolled patients, showed that a FSH treatment with a PGx-driven approach might have the potential to improve COH clinical outcome.
Asunto(s)
Fertilización In Vitro/métodos , Hormona Folículo Estimulante/administración & dosificación , Inducción de la Ovulación/métodos , Receptores de HFE/genética , Adulto , Relación Dosis-Respuesta a Droga , Femenino , Genotipo , Humanos , Oocitos/metabolismo , Folículo Ovárico/metabolismo , Farmacogenética , Polimorfismo de Nucleótido Simple , Resultado del TratamientoRESUMEN
We analyzed 37 samples of endometrial adenocarcinoma for loss of heterozygosity (LOH) by using a panel of 44 microsatellites located in 29 chromosomal regions. The aim of our study was to investigate the existence of a possible preferential involvement of some tumor suppressor genes in endometrial carcinogenesis. The analysis was performed on tumoral tissue and on a corresponding normal tissue by the use of polymerase chain reaction (PCR) and the comparison of the amplified alleles. We observed significative LOH (>20%) in the chromosomal regions of 2q14 (33.33%), 7q35 (24.00%), 10q22.1 (37. 50%), 11q13-q14 (44.12%), 15q26 (40.63%), 17p13 (25.71%), and 17q21. 3 (37.04%). We defined a 1-cM minimal common deletion in 11q13-q14 between D11S911 and D11S937 markers. A statistical analysis revealed a positive correlation between LOH of 11q13-q14 and clinicopathological data.
Asunto(s)
Adenocarcinoma/genética , Cromosomas Humanos Par 11 , Neoplasias Endometriales/genética , Pérdida de Heterocigocidad , Adenocarcinoma/patología , Adulto , Anciano , Neoplasias Endometriales/patología , Femenino , Humanos , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Sensibilidad y EspecificidadRESUMEN
We analyzed 25 oral and oropharyngeal epithelial carcinomas for loss of heterozygosity (LOH) and microsatellite instability by using 55 oligonucleotide repeat markers located in 45 chromosomal regions. The aim was to identify which chromosomal regions and tumor-suppressor genes (TSGs) are preferentially lost in these tumors and to relate LOH at specific loci to clinicopathologic data. The analysis was performed on tumor tissue and on a corresponding normal tissue (blood lymphocytes) with the use of the polymerase chain reaction technique followed by microsatellite allele separation with denaturing gel electrophoresis. Thirty-two of 45 chromosomal regions demonstrated a significant (>/=20%) incidence of LOH. An allelic loss of >/=50% was found in 9p21 (77.8%), 8p22-23 (70%), 3p12 (61.5%), 1p36.1 and 12q22 (60%), 3q28 (57.1%), 5q23.3 (54.5%), 3p25-26, 3p24, and 7q35 (50%). We did not find any microsatellite instability. Our results suggest that in addition to a group of TSGs, pleiotropic for several tumor types, other suppressor genes are specifically involved in oral and oropharyngeal carcinogenesis.
Asunto(s)
Carcinoma de Células Escamosas/genética , Pérdida de Heterocigocidad/genética , Neoplasias de la Boca/genética , Neoplasias Orofaríngeas/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/secundario , Distribución de Chi-Cuadrado , Femenino , Frecuencia de los Genes/genética , Genes Supresores de Tumor/genética , Humanos , Metástasis Linfática/genética , Metástasis Linfática/patología , Linfocitos/metabolismo , Masculino , Repeticiones de Microsatélite/genética , Persona de Mediana Edad , Neoplasias de la Boca/patología , Estadificación de Neoplasias , Neoplasias Orofaríngeas/patologíaRESUMEN
The Authors carried on a study in a group of 31 patients with acute myocardial infarction (AMI). The controled particularly the following dates: myoglobinemia (MG) with RIA and myocardial necrosis enzymes with traditional methods. Blood has been drawn from patients every 90 min, during the first 8 h of admission and every 4 h during the following 4 days. Important variations of MG have been detected in 80.6% of cases. These is an early increase in MG (within 4 h in 25.8% and within 8 h in 45.1% of cases) and normal values are reached in a time not longer the 72 h. The maximum value is reached in a shorter time than that creatine phosphokinase (CPK). We can therefore confirm that MG is a useful data in the early diagnosis of myocardial infarction in preenzymatic stage.