Browsing by Author "Morais, Mariana"
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- Linear and non-linear analysis of uterine contraction signals obtained with tocodynamometry in prediction of operative vaginal deliveryPublication . Gonçalves, Hernâni; Morais, Mariana; Pinto, Paula; Ayres-de-Campos, Diogo; Bernardes, JoãoThe aim of this study was to explore whether linear and non-linear analysis of uterine contraction (UC) signals obtained with external tocodynamometry can predict operative vaginal delivery (OVD).Materials and methods: The last 2 h before delivery (H1 and H2) of 55 UC recordings acquired with external tocodynamometry in the labour ward of a tertiary care hospital were analysed. Signal processing involved the quantification of UCs/segment (UCN), and the linear and non-linear indices: Sample Entropy (SampEn) measuring signal irregularity; interval index (II) measuring signal variability, both of which may be associated with uterine muscle fatigue, and high frequency (HF), associated with maternal breathing movements. Thirty-two women had normal deliveries and 23 OVDs. Statistical inference was performed using 95% confidence intervals (95% CIs) for the median, and areas under the receiver operating curves (auROCs), with univariate and bivariate analyses. Results: A significant association was found between maternal body mass index (BMI) and UC signal quality in H1, with moderate/poor signal quality being more frequente with higher maternal BMI. There was an overall increase in contraction frequency (UCN), signal regularity (SampEn), signal variability (II), and maternal breathing (HF) from H1 to H2. The OVD group exhibited significantly higher values of signal irregularity and variability (SampEn and II) in H1, and higher contraction frequency (UCN) and maternal breathing (HF) in H2. Modest auROCs ere obtained with these indices in the discrimination between normal and OVDs. Conclusions: The results of this exploratory study suggest that analysis of UC signals obtained with tocodynamometry, using linear and non-linear indices associated with muscle fatigue and maternal breathing, identifies significant changes occurring during labour, and diferences between normal and OVDs, but their discriminative capacity between the two types of delivery is modest. Further refinement of this analysis is needed before it may be clinically useful.
- Rotor Syndrome Presenting as Dubin-Johnson SyndromePublication . Morais, Mariana; Couvert, Philippe; Jéru, Isabelle; Machado, Mariana VerdelhoA 42-year-old man with no relevant past medical history presented with intermittent mild icterus and no signs of chronic liver disease. Laboratory tests were notable for hyperbilirubinemia (total 7.97 mg/dL, direct 5.37 mg/dL), bilirubinuria, no signs of hemolysis, normal liver tests and lipids profile. Abdominal ultrasound was unremarkable. A panel of chronic liver diseases was negative except for increased serum (147.4 μg/dL) and urinary (179 μg/24 h) copper, with normal ceruloplasmin. No other Leipzig criteria for Wilson’s disease were found, including a negative test for ATP7B gene mutations (by exome sequencing). Total urinary coproporphyrin was normal with predominance of isomer I (86% of total urinary coproporphyrin output). Clinical and laboratorial profile was compatible with Dubin-Johnson syndrome; however, exome sequencing and search for deletions in the ABBC2 gene (encoding MRP2) only found a heterozygous potentially pathogenic variant (c.1483A>G – p.Lys495Glu). Additional extended molecular analysis of genes implicated in bilirubin metabolism found a homozygous deletion of a region encompassing exons 4–16 of SLCO1B3 gene (encoding OATP1B3) and all SLCO1B1 exons (encoding OATP1B1), thereby establishing Rotor syndrome diagnosis. Rotor and DubinJohnson syndromes are rare autosomal recessive liver diseases characterized by chronic conjugated hyperbilirubinemia, caused by the absence of the hepatic function OATP1B1/B3 (leading to impaired hepatic bilirubin reuptake and storage) and MRP2 transporters (leading to impaired hepatic bilirubin excretion), respectively. We report a case of compound hereditary hyperbilirubinemia with a misleading presentation with special focus on its diagnosis, particularly the advantage of extensive unbiased genetic testing by dedicated laboratories. With this case, we aim to highlight the necessity of establishing a diagnosis, reassuring the patient, and avoiding unnecessary invasive and costly diagnostic procedures.