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1.
Rev Med Liege ; 76(2): 69-70, 2021 Feb.
Artigo em Francês | MEDLINE | ID: mdl-33543849

RESUMO

Cystic adenomatoid malformations are part of localized malformations of lung tissue. They are characterized by the presence of cysts. The diagnosis is typically made during the second trimester of pregnancy. Altough ultrasound of the third trimester can show normalization, it is essential to complete the medical investigation during the first months of life with a computed tomography of the chest. In asymptomatic forms, performing surgical resection is a matter of discussion and, when a conservative treatment is chosen, radiological monitoring should be performed during the entire life.


Les malformations adénomatoïdes kystiques font partie des malformations localisées du tissu pulmonaire. Elles se caractérisent par la présence de kystes. Le diagnostic est souvent posé précocement durant le 2ème trimestre de la grossesse. Bien que l'échographie du 3ème trimestre puisse se normaliser, il est indispensable de compléter le bilan durant les premiers mois de vie par une tomodensitométrie thoracique. Dans les formes asymptomatiques, la réalisation d'une exérèse chirurgicale est discutée, et lors du choix d'un traitement conservateur, une surveillance radiologique doit être réalisée à vie.


Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão , Cistos , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Feminino , Humanos , Pulmão , Gravidez , Tomografia Computadorizada por Raios X , Ultrassonografia
2.
Clin Genet ; 89(2): 193-7, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25827434

RESUMO

Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy-Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy-Walker anomaly or another brain dysgenesis.


Assuntos
Carnitina O-Palmitoiltransferase/deficiência , Erros Inatos do Metabolismo/diagnóstico , Adulto , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez
3.
Rev Med Brux ; 33(2): 97-104, 2012.
Artigo em Francês | MEDLINE | ID: mdl-22812055

RESUMO

For nearly 50 years, the strategy of screening and the diagnostic criteria for gestational diabetes have been the subject of endless controversies. They differ between countries and from one center to another, mainly because of the lack of hard data allowing to define glycemic thresholds at which a therapeutic management is needed. Recently, a large observational study has demonstrated the existence of a robust relationship between maternal blood sugar and several fetomaternal perinatal complications. This relationship is linear, with no clear threshold that would define gestational diabetes unambiguously. Meanwhile, two randomized intervention trials have shown that the therapeutic management of mild gestational diabetes was associated with improved perinatal outcomes. Based on these data, the " International Association of Diabetes and Pregnancy Study Group "(IADPSG) released new recommendations on screening methods and diagnostic criteria for gestational diabetes. Although already endorsed by several international associations and implemented in some countries, these recommendations still raise questions and criticisms. This is why the "Groupement des Gynécologues Obstétriciens de Langue Française de Belgique " (GGOLFB) organized a meeting between diabetologists and gynecologists which allowed to reach a consensus on the strategy that we intend to implement in our respective centers. The purpose of this paper is to briefly overview the recent advances in gestational diabetes and more particularly to make our key conclusions known to the medical community. This will enable the standardization of the management of gestational diabetes in the French-speaking part of Belgium.


Assuntos
Diabetes Gestacional/diagnóstico , Conferências de Consenso como Assunto , Feminino , Humanos , Programas de Rastreamento , Gravidez , Resultado da Gravidez
4.
Rev Med Liege ; 67(4): 179-85, 2012 Apr.
Artigo em Francês | MEDLINE | ID: mdl-22670444

RESUMO

For nearly 50 years, the strategy of screening and the diagnostic criteria for gestational diabetes have been the subject of endless controversies. They differ between countries and from one center to another, mainly because of the lack of hard data allowing to define glycemic thresholds at which a therapeutic management is needed. Recently, a large observational study has demonstrated the existence of a robust relationship between maternal blood sugar and several fetomaternal perinatal complications. This relationship is linear, with no clear threshold that would define gestational diabetes unambiguously. Meanwhile, two randomized intervention trials have shown that the therapeutic management of mild gestational diabetes was associated with improved perinatal outcomes. Based on these data, the "International Association of Diabetes and Pregnancy Study Group" (IADPSG) released new recommendations on screening methods and diagnostic criteria for gestational diabetes. Although already endorsed by several international associations and implemented in some countries, these recommendations still raise questions and criticisms. This is why the "Groupement des Gynécologues Obstétriciens de Langue Française de Belgique" (GGOLFB) organized a meeting between diabetologists and gynecologists which allowed to reach a consensus on the strategy that we intend to implement in our respective centers. The purpose of this paper is to briefly overview the recent advances in gestational diabetes and more particularly to make our key conclusions known to the medical community. This will enable the standardization of the management of gestational diabetes in the French-speaking part of Belgium.


Assuntos
Diabetes Gestacional/diagnóstico , Conferências de Consenso como Assunto , Diabetes Gestacional/terapia , Feminino , Humanos , Programas de Rastreamento , Gravidez , Sociedades Médicas
5.
Biochem Biophys Res Commun ; 215(2): 713-20, 1995 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-7488013

RESUMO

Coordinated expression of genes involved in development, differentiation and malignant transformation is regulated by transcription factors including homeodomain-containing proteins. However, most of their cDNA sequences are still unknown. We report here the molecular characterization of three newly cloned HOXA1 transcripts from human breast cancer cells. In addition, we provide evidence that these alternatively spliced transcripts encode one homeodomain-containing protein and two products lacking the conserved DNA-binding domain. Moreover, we demonstrate that all three HOXA1 transcripts are induced by retinoic acid in MCF7 cells. Taken together, our results suggest that HOXA1 gene may be a key element in the establishment of the breast cancer cell phenotype.


Assuntos
Proteínas de Homeodomínio/biossíntese , Fatores de Transcrição/biossíntese , Transcrição Gênica/efeitos dos fármacos , Tretinoína/farmacologia , Actinas/biossíntese , Processamento Alternativo , Sequência de Aminoácidos , Sequência de Bases , Neoplasias da Mama , Linhagem Celular , Clonagem Molecular , Sequência Conservada , Primers do DNA , Feminino , Genes Homeobox , Humanos , Dados de Sequência Molecular , Família Multigênica , Reação em Cadeia da Polimerase , Células Tumorais Cultivadas
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