RESUMEN
During 1992-2001, 673 Down syndrome patients were referred to the Department of Human Genetics in Alexandria. Regular (free) trisomy 21 constituted 95.4% of cases; Robertsonian translocation 2.7%; and mosaicism 0.7%. In 8 cases, regular trisomy 21 was associated with structural or numerical chromosome anomalies. Translocation was parentally inherited for 33.3% of cases and maternal transmission was twice as common as paternal. Two translocated Down syndrome fetuses were diagnosed prenatally in a t(14;21) carrier mother. Mean maternal age was high in regular trisomy 21 (38.2 years) but not in translocation (25.3 years). There was an excess of males in all groups except the mosaic group where the male:female ratio was 0.67. Cytogenetic investigations assist in patient management and family counselling.
Asunto(s)
Citogenética , Síndrome de Down/epidemiología , Síndrome de Down/genética , Adulto , Citogenética/métodos , Síndrome de Down/prevención & control , Egipto/epidemiología , Femenino , Frecuencia de los Genes , Asesoramiento Genético , Hospitales Universitarios , Humanos , Recién Nacido , Cariotipificación , Masculino , Edad Materna , Epidemiología Molecular , Mosaicismo/estadística & datos numéricos , Edad Paterna , Linaje , Derivación y Consulta/estadística & datos numéricos , Estudios Retrospectivos , Factores de Riesgo , Distribución por Sexo , Translocación Genética/genéticaRESUMEN
During 1992-2001, 673 Down syndrome patients were referred to the Department of Human Genetics in Alexandria. Regular [free] trisomy 21 constituted 95.4% of cases; Robertsonian translocation 2.7%; and mosaicism 0.7%. In 8 cases, regular trisomy 21 was associated with structural or numerical chromosome anomalies. Translocation was parentally inherited for 33.3% of cases and maternal transmission was twice as common as paternal. Two translocated Down syndrome fetuses were diagnosed prenatally in at [14;21] carrier mother. Mean maternal age was high in regular trisomy 21 [38.2 years] but not in translocation [25.3 years]. There was an excess of males in all groups except the mosaic group where the male:female ratio was 0.67. Cytogenetic investigations assist in patient management and family counselling
Asunto(s)
Epidemiología Molecular , Frecuencia de los Genes , Asesoramiento Genético , Hospitales Universitarios , Recién Nacido , Cariotipificación , Edad Materna , Mosaicismo , Derivación y Consulta , CitogenéticaRESUMEN
BACKGROUND: Although radical prostatectomy for localized disease is considered as a standard of care, external-beam radiotherapy and brachytherapy are equally effective. We report on the technique and preliminary results of high-dose-rate (HDR) brachytherapy using a temporary iridium-192 implant technique. METHODS: The authors reviewed the literature on the techniques, treatment protocols, and results of HDR brachytherapy in the treatment of carcinoma of the prostate, and they report their own protocols, technique, and results. RESULTS: The combination of HDR brachytherapy and external irradiation has been well tolerated by all 200 patients in our series, with less than 3% grade 3 late complications and with 95% PSA relapse-free survival with a median follow-up of 24 months. CONCLUSIONS: HDR brachytherapy may be the most conformal type of irradiation in the treatment of carcinoma of the prostate regardless of tumor size, anatomical distortion, and organ mobility.
Asunto(s)
Adenocarcinoma/radioterapia , Braquiterapia/métodos , Radioisótopos de Iridio/uso terapéutico , Neoplasias de la Próstata/radioterapia , Adenocarcinoma/inmunología , Adenocarcinoma/patología , Anciano , Anciano de 80 o más Años , Braquiterapia/efectos adversos , Supervivencia sin Enfermedad , Relación Dosis-Respuesta en la Radiación , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Antígeno Prostático Específico/sangre , Neoplasias de la Próstata/inmunología , Neoplasias de la Próstata/patología , Dosificación Radioterapéutica , Factores de Tiempo , Resultado del TratamientoRESUMEN
The study aimed to evaluate the role of nucleolus organizer region (NOR) heteromorphism as an etiological factor for parental nondisjunction in Down syndrome by comparing 25 patients affected by Down syndrome, and their parents with a control group of 80 non-affected Egyptians. All parents had normal karyotypes. The average modal number per parent of Ag-positive NORs was significantly higher in parents than controls. A significant difference in the size of the double-NOR variants (dNORs) was found. The mean maternal and paternal ages were significantly lower, with a significant increase in spontaneous abortions, for dNOR(+) couples compared with dNOR(-) couples.
Asunto(s)
Síndrome de Down/genética , No Disyunción Genética , Región Organizadora del Nucléolo/genética , Región Organizadora del Nucléolo/ultraestructura , Aborto Espontáneo/genética , Adulto , Estudios de Casos y Controles , Preescolar , Egipto , Femenino , Humanos , Lactante , Recién Nacido , Cariotipificación , Masculino , Edad Materna , Persona de Mediana Edad , Padres , Linaje , EmbarazoRESUMEN
The study aimed to evaluate the role of nucleolus organizer region [NOR] heteromorphism as an etiological factor for parental nondisjunction in Down syndrome by comparing 25 patients affected by Down syndrome, and their parents with a control group of 80 non-affected Egyptians. All parents had normal karyotypes. The average modal number per parent of Ag-positive NORs was significantly higher in parents than controls. A significant difference in the size of the double-NOR variants [dNORs] was found. The mean maternal and paternal ages were significantly lower, with a significant increase in spontaneous abortions, for dNOR[+] couples compared with dNOR[-] couples