RESUMEN
This is a unique case of intrachromosomal triplication of the X chromosome q arm detected with cytogenetic and spectral karyotyping in a 21-year-old woman with primary amenorrhea, who had been referred because of primary hypergonadotropic hypogonadism and Mullerian hypoplasia. Intrachromosomal triplications are rare rearrangements resulting in partial tetrasomy. Since 1993, at least 34 cases of intrachromosomal triplications involving 9 different chromosomes have been reported. The vast majority of the reported triplications are on the 15th chromosome, arised de novo and had middle inverted repetitions. In this report the genotype-fenotype correlation in a case of primary amenorrhea associated with triplication of the X chromosome q arm and the possible mechanisms of this rearrangement are discussed. Further the clinical usability of SKY analysis as a molecular cytogenetic tool in searching for genomic instability arising from cytogenetic rearrangements is highlighted.
Asunto(s)
Amenorrea/genética , Aberraciones Cromosómicas , Cromosomas Humanos X/genética , Anomalías Craneofaciales/genética , Análisis Citogenético/métodos , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Discapacidad Intelectual/genética , Anomalías Múltiples/genética , Adulto , Bandeo Cromosómico , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Aberraciones Cromosómicas Sexuales , Cariotipificación Espectral , Turquía , Adulto JovenRESUMEN
OBJECTIVE: To compare the efficacy and complications of intravaginal misoprostol for induction of labor in patients with and without toxemia of pregnancy. METHODS: Forty-two patients with toxemia of pregnancy (group 1) and 59 women at term without toxemia (group 2) with Bishop scores of < or = 6 were treated with 50 microg intravaginal misoprostol given four times at 4-h intervals. Labor and neonatal outcomes, and any complications, were recorded. Mann-Whitney U-, Student's t- and chi(2)-tests were used for statistical analyses. P < or = 0.05 was considered significant. RESULTS: The rates of vaginal delivery were 73.8% and 84.6%, oxytocin augmentation were 4.8% and 5.1% and the mean insertion to delivery times were 12.5 and 13.8 h in group 1 and 2, respectively, with no significant differences between the groups. Neonatal outcomes, rates of uterine contraction abnormalities and gastrointestinal symptoms were similar in both groups. CONCLUSIONS: Intravaginal misoprostol is an equally effective and safe method of induction of labor in patients with toxemia of pregnancy and in normal pregnant women.
Asunto(s)
Trabajo de Parto Inducido , Misoprostol/uso terapéutico , Oxitócicos/uso terapéutico , Preeclampsia , Administración Intravaginal , Adulto , Femenino , Edad Gestacional , Humanos , Recién Nacido , Primer Periodo del Trabajo de Parto/efectos de los fármacos , Misoprostol/administración & dosificación , Misoprostol/efectos adversos , Náusea/inducido químicamente , Complicaciones del Trabajo de Parto/inducido químicamente , Oxitócicos/administración & dosificación , Oxitócicos/efectos adversos , Paridad , Embarazo , Resultado del Embarazo , Contracción Uterina/efectos de los fármacos , Vómitos/inducido químicamenteRESUMEN
Class II, division 1 cases are treated by many different techniques depending on the age of the patient and cause of the malocclusion. To overcome the undesirable effects of headgear on anchor teeth, a removable appliance, the maxillary traction splint, is used with extraoral forces. In this study, 15 patients with maxillary dentoalveolar protrusions and Class II, division 1, malocclusions were treated with a maxillary traction splint. Cephalograms taken before and after treatment and the sagittal skeletal and dental changes were evaluated and quantified. The results showed that use of the maxillary traction splint prior to fixed appliance therapy is effective in correcting dentoalveolar protrusion in growing patients.
