73 documents found, page 1 of 8
Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...
Simão, Laurentino; Pedro, Sónia; Marques, Bárbara; Serafim, Sílvia; Ferreira, Cristina; Tarelho, Ana; Brito, Filomena; Silva, Marisa; Alves, CristinaDistal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.
Diagnóstico e Impacto do Sistema de Avaliação de Desempenho da Verdy
Marques, Bárbara; Ferreira, Ana PaulaAs organizações, cada vez mais, deixam de olhar para os seus colaboradores como sendo simples recursos, com determinadas competências para executar determinadas tarefas, passando a considerá-los pessoas com valores, crenças, atitudes, aspirações e objetivos individuais. Portanto, gerir pessoas é mais do que controlar e seguir procedimentos e rotinas. Gerir pessoas, para Sousa et al. (2006), implica a envolvênci...
Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report
Ferreira, Cristina; Tarelho, Ana; Marques, Bárbara; Serafim, Sílvia; Pedro, Sónia; Granja, Carla; Mata, Rodrigo; Martins, Ana Teresa; Carvalho, InêsBeckwith-Wiedemann syndrome (BWS) is the most common overgrowth disease. Phenotypically and genetically heterogeneous, it is linked with epigenetic/genetic aberrations on 11p15.4p15.5 chromosome region and the majority of cases are diagnosed after birth with prenatal diagnosis being difficult and depending on the identification of specific ultrasound (US) anomalies. Here we present a case of a fetus from a heal...
15q11.2q13.1 interstitial gain in a fetus with an increased risk for T21: When ...
Serafim, Sílvia; Pedro, Sónia; Marques, Bárbara; Tarelho, Ana; Viegas, Mónica; Simão, Laurentino; Ferreira, Cristina; Carvalho, Inês; Cohen, ÁlvaroIntroduction: Copy number variants (CNV) of the 15q11.2q13.1 region are associated to recurrent microdeletion/microduplication syndromes in which the phenotype is dependent on the parental origin of the CNV. We report the case of a fetus from a healthy 39-year-old G6P3A2 woman, with an increased risk for trisomy 21 in the 1st trimester prenatal screening. Chromosomal microarray analysis (CMA) was requested and ...
Deleção intersticial 7q33q34 em fetos de gravidez gemelar monocoriónica diamnió...
Simão, Laurentino; Marques, Bárbara; Ferreira, Cristina; Serafim, Sílvia; Alves, Cristina; Silva, Marisa; Viegas, Mónica; Peliano, RicardoIntrodução: O acompanhamento de gestações gemelares pode revelar-se desafiante se houver alterações ecográficas e discrepâncias entre os fetos. Deleções intersticiais 7q, abrangendo diferentes regiões e apresentando tamanho variável, são raras, e encontram-se quase exclusivamente descritas em pós-natal. Objectivos: Apresentamos o caso de uma gestante, de 32 anos, com gravidez gemelar monocoriónica e diamniótica...
Morte súbita neonatal num recém-nascido com perturbação do desenvolvimento inte...
Furtado Gomes, Inês; Martins, Marta; Marques, Bárbara; Correia, Hildeberto; Sanchez, BrunoIntrodução: A perturbação do desenvolvimento intelectual ligada ao X (PDIX) tipo Nascimento é uma síndrome genética rara caracterizada por défice intelectual, dismorfismos craniofaciais característicos e anomalias congénitas, nomeadamente defeitos cardíacos e do tracto génito-urinário. Descrição do caso: Recém-nascido do sexo masculino, admitido com 12 horas de vida na Unidade de Cuidados Intensivos Neonatais p...
Venetoclax: A New Hope for Elderly Patients with Acute Myeloid Leukemia
Marques, Bárbara; Afonso, Carolina; Cortesão, EmíliaAcute myeloid leukemia (AML) is a hematopoietic malignancy characterized by clonal proliferation, with increased incidence with advancing age. AML with myelodysplasia-related changes (AML-MRC) represents an AML subtype with a poor prognosis and challenging treatment, particularly in elderly patients. We report the case of a 77-year-old patient diagnosed with high-risk AML-MRC, ineligible for intensive chemother...
Prenatal Diagnosis of Congenital Heart Disease IN A Fetus with A 8p23.1 Interst...
Simão, Laurentino; Marques, Bárbara; Serafim, Sílvia; Alves, Ana; Pedro, Sónia; Brito, Filomena; Ferreira, Cristina; Peliano, Ricardo; Silva, MarisaIntroduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term births, and it is ten times higher in preterm infants (8.3%). The atrioventricular septum defect (AVDS) is the most common CHD detectable in utero. AVSD is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndr...
Duplication of the long arm of chromosome 1 in primary myelofibrosis is a malig...
Silva, Maria do Céu; Ambrósio, Ana Paula; Marques, Bárbara; Ventura, Catarina; Silva, Elizabeth; Trindade, Maria do Céu; Correia, HildebertoPrimary myelofibrosis (PMF) is one of the Myeloproliferative neoplasms (MPN), which presents a preferential proliferation of megakaryocytes and granulocytes in the bone marrow (BM). One of the causes of morbidity and mortality in PMF is the progression to Acute Myeloid Leukemia (AML). We present a clinical case, of a female individual, 68 years old at the time of the initial diagnosis, who presented moderate an...
DNA Methylation Is Correlated with Oxidative Stress in Myelodysplastic Syndrome...
Gonçalves, Ana Cristina; Alves, Raquel; Baldeiras, Inês; Marques, Bárbara; Oliveiros, Bárbara; Pereira, Amélia; Costa, José Manuel NascimentoOxidative stress and abnormal DNA methylation have been implicated in cancer, including myelodysplastic syndromes (MDSs). This fact leads us to investigate whether oxidative stress is correlated with localized and global DNA methylations in the peripheral blood of MDS patients. Sixty-six MDS patients and 26 healthy individuals were analyzed. Several oxidative stress and macromolecule damage parameters were anal...