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- Prenatal diagnosis of Beckwith Wiedemann syndrome: a case reportPublication . Ferreira, Cristina; Tarelho, Ana; Marques, Bárbara; Serafim, Sílvia; Pedro, Sónia; Granja, Carla; Mata, Rodrigo; Martins, Ana Teresa; Carvalho, Inês; Correia, HildebertoBeckwith-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 healthy 21-year-old primiparous woman, with a low risk in the first trimester aneuploidy screening and bilaterally increase in renal volume detected in the second trimester US. An amniotic fluid (AF) sample was collected at 24 weeks. Rapid aneuploidy diagnosis by QF-PCR and sequencing of a multigene panel for renal dysplasia were performed with a normal result for common aneuploidies and detection of a variant with uncertain significance, respectively. The pregnant was referred to a differentiated prenatal diagnosis center and a detailed US at 30 weeks and 3 days showed multiple features suggestive of BWS: macroglossia, weight estimation at P100, significantly enlarged kidneys without corticomedullary differentiation, hepatomegaly, prenasal and cervical subcutaneous thickening, and suspected cardiomegaly without structural heart disease. The methylation pattern study of 11p15 region by MS-MLPA revealed hypermethylation of H19/GF2: IG differentially methylated region (DMR), confirming the Beckwith-Wiedemann diagnosis. In contrast to postnatal cases that can be diagnosed by phenotypic scoring, prenatal diagnosis of BWS is relatively challenging because some common features cannot be detected by US and other features appear only after 30 weeks of gestation and may be missed on second-trimester morphological ultrasound. Omphalocele is the most common prenatal phenotypic BWS-associated feature, and is the first and most easily identified in prenatal screening, but there are other features that may suggest BWS such as macroglosia, macrosomia, placental mesenchymal dysplasia, polyhydramnios, and visceromegaly. Routine molecular testing of all fetuses with one or more prenatal BWS-associated features is of utmost importance, as early diagnosis is significantly beneficial for prenatal counselling, perinatal management allowing for better birth planning and postnatal care for neonatal hypoglycemia, respiratory distress, and risk of malignancy.
- The effect of TB patient delay on loss to follow-up in PortugalPublication . Marques, J.; Rocha, J.V.; Soares, Patricia; Leite, Andreia; Duarte, R.; Nunes, C.BACKGROUND: Early identification of TB cases, followed by treatment to completion, are essential for controlling and preventing the disease. Previous studies have found some factors associated with both loss to follow-up (LTFU) and patient delay. We aim to build a causal model to investigate the association between TB patient delay and LTFU.METHODS: Pulmonary TB cases were identified using the national surveillance system in Portugal between 2008 and 2017. A directed acyclic graph was used to identify the minimal set of variables to adjust for when studying the association between delay (exposure) and LTFU (outcome). Crude and adjusted hazard were estimated using Cox regression.RESULTS: Nearly 4% of the patients did not follow up treatment. There was no association between patient delay and LTFU, even after adjustment with the minimal set of covariates. Factors associated with a higher risk of LTFU were being younger, being unemployed, living in urban areas, having HIV and the abuse of alcohol and drugs.CONCLUSION: Patient delay was not associated with LTFU, while social conditions were. Future research should investigate the underlying reasons why patients discontinue TB treatment and use these findings to develop targeted interventions that can support patients in completing their treatment regimen.