ABSTRACT
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.
Subject(s)
Cystic Adenomatoid Malformation of Lung, Congenital , Cysts , Cystic Adenomatoid Malformation of Lung, Congenital/diagnostic imaging , Cystic Adenomatoid Malformation of Lung, Congenital/surgery , Female , Humans , Lung , Pregnancy , Tomography, X-Ray Computed , UltrasonographyABSTRACT
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.
Subject(s)
Carnitine O-Palmitoyltransferase/deficiency , Metabolism, Inborn Errors/diagnosis , Adult , Fatal Outcome , Female , Humans , Infant, Newborn , Male , PregnancyABSTRACT
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.
Subject(s)
Diabetes, Gestational/diagnosis , Consensus Development Conferences as Topic , Female , Humans , Mass Screening , Pregnancy , Pregnancy OutcomeABSTRACT
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.
Subject(s)
Diabetes, Gestational/diagnosis , Consensus Development Conferences as Topic , Diabetes, Gestational/therapy , Female , Humans , Mass Screening , Pregnancy , Societies, MedicalABSTRACT
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.