49 research outputs found

    Incidental ameloblastoma diagnosed after treatment for childhood tumor

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    Abstract Ameloblastoma is a rare odontogenic neoplasm accounting for 1% of all tumors of the jaws. It is rarely diagnosed in pediatric and adolescent age. Cancer treatment is a well-known risk factor for the onset of secondary malignancies among childhood cancer survivors, but any link between ameloblastoma and prior cancer treatments has yet to be explored. Here we report on two cases of ameloblastoma diagnosed in patients previously treated for tumors in pediatric age

    Considerations regarding a case of leiomyoma of the urinary bladder

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    In spite of its rarity, leiomyoma of the bladder deserves to be better known as its diagnosis is not always obvious, depending as it does mainly on urography confirmed by anatomo-pathological examination, and particularly because its treatment is simple and the prognosis always favourable, a fact worthy of note in dealing with a tumour of the bladder

    Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis

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    Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation

    Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis

    Get PDF
    Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation

    Effect of a combination of ethinylestradiol 30 mu g and drospirenone 3 mg on tolerance, cycle control, general well-being and fluid-related symptoms in women with premenstrual disorders requesting contraception

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    Purpose: Positive effects on premenstrual symptoms have been observed with low-dose oral contraceptives. Drospirenone is a synthetic progestogen with antiandrogenic and antimineralocorticoid effects. This open-label, multicenter study evaluated the effects of a combination of ethinylestradiol 30 mu g and drospirenone 3 mg on safety, cycle control, general well-being and fluid-related symptoms in women with premenstrual disorders requesting contraception.Materials and methods: A total of 241 healthy volunteers with symptoms of premenstrual disorder was enrolled in the study. of the final sample, 203 completed the six-cycle treatment and were included in the efficacy analysis whereas 236 were included in the tolerability analysis. the subjects recruited to the study were required to fill up the Psychological General Well-Being Index (PGWBI).Results: There was no significant change in body weight or blood pressure throughout the treatment. Adverse events reported by patients during treatment consisted of those already known to be associated with oral contraceptive use. PGWBI scores were significantly higher after six cycles of treatment compared with baseline values (p < .0001). A total of 198 (84.2%) subjects reported a great improvement in premenstrual symptoms.Conclusions: the results of this study confirm that oral use of a combination of ethinylestradiol 30 mu g and drospirenone 3 mg provides good cycle control, is well tolerated and has a positive impact on symptoms of premenstrual disorder. (c) 2006 Elsevier Inc. All rights reserved.Univ Fed Minas Gerais, Hosp Clin, Lab Reprod Humana, Belo Horizonte, MG, BrazilCtr Estudos & Pesquisas Reprod Humana & Fertiliza, Curitiba, Parana, BrazilSanta Casa Misericordia, Dept Ginecol & Obstet, São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Obstet, BR-04023062 São Paulo, BrazilUniversidade Federal de São Paulo, Fac Med Ribeirao Preto, Dept Obstet, BR-04023062 São Paulo, BrazilUniversidade Federal de São Paulo, Fac Med Ribeirao Preto, Hosp Clin, Dept Ginecol & Obstet, BR-04023062 São Paulo, BrazilCtr Med Reprod Dr Carlos Isaia Filho, Porto Alegre, RS, BrazilPontificia Univ Catolica Rio Grande Sul, Dept Ginecol & Obstet, Rio Grande do Sul, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Obstet, BR-04023062 São Paulo, BrazilUniversidade Federal de São Paulo, Fac Med Ribeirao Preto, Dept Obstet, BR-04023062 São Paulo, BrazilUniversidade Federal de São Paulo, Fac Med Ribeirao Preto, Hosp Clin, Dept Ginecol & Obstet, BR-04023062 São Paulo, BrazilWeb of Scienc
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