V Professor adjunto, UPE. A esterilidade se apresentava como imagem da morte 4. A infertilidade pode evocar poderosas e assustadoras fantasias, atingindo a personalidade como um todo O desespero de lidar com a infertilidade assemelha-se ao desespero de lidar com eventos devastadores, tais como a perda de um parceiro Embora a capacidade de procriar seja postergada para a vida adulta, precocemente associamo-nos com ela. Em algumas brincadeiras infantis, percebemos um tipo de ensaio para o futuro desempenho da parentalidade.

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Familial amyloid polyneuropathy FAP , Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin TTR protein.

A genetic diagnosis was developed using fluorescent single cell polymerase chain reaction PCR on lymphocytes from patients and controls. Ovarian stimulation and oocyte retrieval were carried out using conventional protocols in a couple in whom the female was heterozygous for the mutation TTR V30M.

Blastomere biopsy was performed on day 3 after intracytoplasmic sperm injection. The transfer of three embryos at day 4 resulted in a twin pregnancy, confirmed as healthy females by amniocentesis at 16 weeks of gestation; the birth took place at 37 weeks of gestation. With this report, FAP, TTR related, joins the lengthening list of genetic conditions for which preimplantation genetic diagnosis has been successfully carried out. This site needs JavaScript to work properly.

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Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease familial amyloid polyneuropathy. Lopes R, et al. Reprod Biomed Online. Epub Oct Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.

Martens B, et al. Acta Neurol Belg. Epub Mar 9. PMID: Review. A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.

Kono S, et al. Intern Med. Epub Jun Show more similar articles See all similar articles. Liao CH, et al. Diagnostics Basel. Corino de Andrade disease: mechanisms and impact on reproduction. Lopes RA, et al. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.

Schmidt HH, et al. Muscle Nerve. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Obici L, et al. Curr Opin Neurol. Does transthyretin function as one of contributors for preeclampsia? Chen Y, Zhang Z. Chen Y, et al. Med Hypotheses. Epub Sep 9. Publication types Case Reports Actions. MeSH terms Adult Actions. Embryo Transfer Actions. Female Actions. Heterozygote Actions.

Humans Actions. Infant, Newborn Actions. Male Actions. Pregnancy Actions. Sperm Injections, Intracytoplasmic Actions. Substances Prealbumin Actions. Full-text links [x] Elsevier Science. Copy Download.


Infertilidade masculina é desvendada em dois novos estudos

As mulheres manifestaram sentimentos negativos perante a infertilidade, enquanto os homens assumiram uma postura de suporte e apoio. Las mujeres manifestaron sentimientos negativos ante la infertilidad, mientras que los hombres asumieron una postura de soporte y apoyo. Tratou-se de uma pesquisa observacional, descritiva, de desenho transversal e prospectivo. Esses dados corroboram os achados do presente estudo Tabelas 1 e 2. Quando a etiologia da infertilidade se deve a um fator masculino os homens tendem a participar mais do tratamento The social epidemiology of coping with infertility. Hum Reprod.


Crianças e câncer


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