Publications by authors named "Mariana Doria"

Article Synopsis
  • The study examines the effectiveness of two different growth charts (Fenton Curve and Portuguese Curve) in classifying birthweights of babies born to mothers with gestational diabetes.
  • There were notable differences in the classification of birthweights: the Fenton Chart indicated a higher percentage of small for gestational age (SGA) babies, while the Portuguese Chart showed a higher percentage of large for gestational age (LGA) babies.
  • The Portuguese Curve was found to have a better correlation with important maternal and neonatal outcomes, emphasizing the need for tailored growth charts for specific populations to avoid misclassification and its potential consequences.
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Aims: Women diagnosed with Gestational Diabetes Mellitus (GDM) should be evaluated postpartum with an Oral Glucose Tolerance Test (OGTT). Nevertheless, women frequently fail to it. We intend to evaluate the performance of third trimester HbA1c in the prediction of postpartum diabetes mellitus (PDM).

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Background: Both obesity and gestational diabetes mellitus (GDM) are independent risk factors for adverse maternal and fetal outcomes. The Institute of Medicine (IOM) recommends different targets for an adequate gestational weight gain (GWG), depending on the prepregnancy body mass index, but they have been questioned. We aim to compare obese pregnant women with GDM according to GWG stratification (insufficient, adequate and excessive) with regard to maternal and neonatal outcomes and to clarify whether insufficient GWG can be associated with better outcomes.

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Skull fractures are rare in newborns and normally caused by maternal abdominal trauma or complicated deliveries. However, in rare cases, these fractures are found in neonates born after an uneventful pregnancy and delivery. We report a case of a primigravida who underwent cesarean delivery due to failure of descent and malpositioning of the fetal head.

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Objective: The purpose of this work was to characterize the Met34Thr variant in a group of patients with nonsyndromic hearing loss, in order to establish a genotype-phenotype correlation.

Methods: 13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant.

Results: Met34Thr variant was identified in 11/13 cases.

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Objective: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients.

Methods: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of "Hereditary Hearing-loss" in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss.

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