Publications by authors named "E J Valente"

Introduction: In patients with chronic coronary syndromes (CCS), the benefit of percutaneous coronary intervention (PCI) added to optimal medical therapy (OMT) remains unclear. The indication to PCI may be driven either by angiographic evaluation or ischemia assessment, thus depicting different potential strategies which have not yet been thoroughly compared.

Methods: Randomized controlled trials (RCTs) comparing OMT versus PCI angio-guided or versus PCI non-invasive or invasive ischemia guided were identified and compared via network meta-analysis.

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Objectives: To examine quality of maternal and newborn care (QMNC) around childbirth in facilities in Belgium during the COVID-19 pandemic and trends over time.

Design: A cross-sectional observational study.

Setting: Data of the Improving MAternal Newborn carE in the EURO region study in Belgium.

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Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'. Recessive pathogenic variants in the gene are associated with hydrolethalus syndrome (HLS), a severe disorder characterised by multiple developmental defects leading to intrauterine or perinatal death. However, biallelic variants were also reported in three individuals with JS.

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Background and study goal Epidural analgesia is effective for postoperative pain control but carries risks of infection, including bacterial colonization. This study aimed to determine the incidence of epidural catheter colonization and infection in a Portuguese hospital, identify common microorganisms and antibiotic resistance profiles, and assess potential risk factors. Materials and methods We conducted a prospective observational study from November 2022 to March 2023 in a Portuguese secondary care center.

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Objectives: To report a novel imaging finding of bilateral dentate nuclei hyperintensities in a case of childhood-onset GAA--related ataxia (spinocerebellar ataxia 27B, SCA27B) and response to 4-aminopyridine (4-AP).

Methods: A 53-year-old woman with unsolved progressive cerebellar ataxia of childhood onset underwent clinical and imaging assessment and extensive genetic investigation.

Results: After excluding Friedreich ataxia, most common spinocerebellar ataxia-related expansions, and pathogenic variants in ataxia-related genes through exome sequencing, targeted long-range PCR and repeat-primed PCR analysis revealed a heterozygous pathogenic (GAA) expansion in Brain MRI showed bilateral dentate nuclei hyperintensities and peridentate white matter degeneration, a feature never reported before in SCA27B.

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