Browsing by Author "Oliveira, Jorge"
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- 3% polidocanol foam sclerotherapy versus hemorrhoidal artery ligation with recto anal repair in hemorrhoidal disease grades II-III: a randomized, pilot trialPublication . Neves, Sara; Falcao, Daniela; Povo, Ana; Castro-Poças, Fernando; Oliveira, Jorge; Salgueiro, PauloPurpose: Polidocanol foam sclerotherapy (SP) versus doppler-guided hemorrhoidal artery ligation with recto-anal repair (HAL-RAR) in the treatment of hemorrhoidal disease (HD) was analyzed. Methods: A prospective, randomized study including patients with HD grades II and III was performed. Participants were randomly assigned (1:1) into SP or HAL-RAR, during a recruitment period between September 2019 and February 2020. Therapeutic success (Sodergren's and bleeding scores) was the primary outcome. Other outcomes evaluated included complications and implication in the professional life. Efficacy and safety outcomes were evaluated during the 8 weeks after surgery or the final SP session. Results: Forty-six patients were allocated either to SP (n=22) or HAL-RAR (n=24). Most patients achieved therapeutic success (SP 100% vs. HAL-RAR 90.9%, p=0.131). Complete success was higher in the SP group (91.7% vs. 68.2%, p=0.045) and SP patients had less complications (25% vs. 68.2%, p=0.003). HAL-RAR had a greater negative impact on work activity of the patient. Conclusion: SP was more effective and safer than HAL-RAR. SP patients had less impact on their work activity. Clinical trials identifier NCT04675177.
- Forma rara de distrofia muscular (ligada ao gene CHKB) identificada através da sequenciação completa do exomaPublication . Oliveira, Jorge; Negrão, Luís; Fineza, Isabel; Gonçalves, Ana Rita; Froufe, Hugo; Egas, Conceição; Sousa, Mário; Santos, Rosário
- αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrumPublication . Morais, Sara; Oliveira, Jorge; Lau, Catarina; Pereira, Mónica; Gonçalves, Marta; Monteiro, Catarina; Gonçalves, Ana; Matos, Rui; Sampaio, Marco; Cruz, Eugénia; Freitas, Inês; Santos, Rosário; Lima, MargaridaBackground: Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia. Objectives: To describe a series of patients with familial macrothrombocytopenia and decreased expression of αIIbβ3 integrin due to defects in the ITGA2B or ITGB3 genes. Methods: We reviewed the clinical and laboratory records of 10 Portuguese families with GTLS (33 patients and 11 unaffected relatives), including the functional and genetic defects. Results: Patients had absent to moderate bleeding, macrothrombocytopenia, low αIIbβ3 expression, impaired platelet aggregation/ATP release to physiological agonists and low expression of activation-induced binding sites on αIIbβ3 (PAC-1) and receptor-induced binding sites on its ligand (bound fibrinogen), upon stimulation with TRAP-6 and ADP. Evidence for constitutive αIIbβ3 activation, occurred in 2 out of 9 patients from 8 families studied, but also in 2 out of 12 healthy controls. We identified 7 missense variants: 3 in ITGA2B (5 families), and 4 in ITGB3 (5 families). Three variants (αIIb: p.Arg1026Trp and p.Arg1026Gln and β3: p.Asp749His) were previously reported. The remaining (αIIb: p.Gly1007Val and β3: p.Thr746Pro, p.His748Pro and p.Arg760Cys) are new, expanding the αIIbβ3 defects associated with GTLS. The integration of the clinical and laboratory data allowed the identification of two GTLS subgroups, with distinct disease severity. Conclusions: Previously reported ITGA2B and ITGB3 variants related to thrombocytopenia were clustered in a confined region of the membrane-proximal cytoplasmic domains, the inner membrane clasp. For the first time, variants are reported at the outer membrane clasp, at the transmembrane domain of αIIb, and at the membrane distal cytoplasmic domains of β3. This is the largest single-center series of inherited macrothrombocytopenia associated with αIIbβ3 variants published to date.