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  • 2022-11Other Open access Show more
  • Hepatobiliary and Pancreatic: an Unusual Cause of Biliary Obstruction
    Publication . Saraiva, R; Gamelas, V; Canha, MI; Carvalho, D; Loureiro, R; Coimbra, J
    2022-11Journal article Open access Show more
  • Endovascular Treatment for Anterior Circulation Large-Vessel Occlusion Ischemic Stroke with Low ASPECTS: a Systematic Review and Meta-Analysis
    Publication . Safouris, A; Palaiodimou, L; Szikora, I; Kargiotis, O; Magoufis, G; Psychogios, K; Paraskevas, G; Spiliopoulos, S; Brountzos, E; Nardai, S; Goyal, N; Aguiar de Sousa, D; Strbian, D; Caso, V; Alexandrov, A; Tsivgoulis, G
    Background: Endovascular treatment (EVT) for acute ischemic stroke (AIS) patients presenting with Alberta Stroke Program Early CT Score (ASPECTS) 0-5 has not yet proven safe and effective by clinical trials. Objectives: The aim of the study was to assess whether EVT in AIS patients presenting with low ASPECTS is beneficial. Design: Systematic review and meta-analysis of available studies in accordance with the PRISMA statement. Data sources and methods: We have searched MEDLINE, the Cochrane Central Register of Controlled Trials, and reference lists of articles published until 28 May 2022 with the aim to calculate (1) modified Rankin scale (mRS) score 0-3 at 3 months, (2) mRS score 0-2 at 3 months, (3) symptomatic intracranial hemorrhage (sICH), and (3) mortality at 3 months. Results: Overall, 24 eligible studies were included in the meta-analysis, comprising a total of 2539 AIS patients with ASPECTS 0-5 treated with EVT. The pooled proportion of EVT-treated patients achieving mRS 0-3 at 3 months was calculated at 38.4%. The pooled proportion of EVT-treated patients achieving mRS 0-2 at 3 months was 25.7%. Regarding safety outcomes, sICH occurred in 12.8% of patients. The 3-month pooled mortality was 30%. In pairwise meta-analysis, patients treated with EVT had a higher likelihood of achieving mRS 0-3 at 3 months compared with patients treated with best medical therapy (BMT, OR: 2.41). sICH occurred more frequently in EVT-treated patients compared with the BMT-treated patients (OR: 2.30). Mortality at 3 months was not different between the two treatment groups (OR: 0.71). Conclusion: EVT may be beneficial for AIS patients with low baseline ASPECTS despite an increased risk for sICH. Further data from randomized-controlled clinical trials are needed to elucidate the role of EVT in this subgroup of AIS patients. Registration: The protocol has been registered in the International Prospective Register of Ongoing Systematic Reviews PROSPERO; Registration Number: CRD42022334417.
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  • A Multinational Study of Acute and Long‐Term Outcomes of Type 1 Galactosemia Patients Who Carry the S135L (c.404C > T) Variant of GALT
    Publication . Katler, Q; Stepien, K; Paull, N; Patel, S; Adams, M; Balci, M; Berry, G; Bosch, A; DeLaO, A; Demirbas, D; Edman, J; Ficicioglu, C; Goff, M; Hacker, S; Knerr, I; Lancaster, K; Li, H; Mendelsohn, B; Nichols, B; Rezende Pinto, W; César Rocha, J; Rubio‐Gozalbo, ME; Saad‐Naguib, M; Scholl‐Buergi, S; Searcy, S; Souza, P; Wittenauer, A; Fridovich‐Keil, J
    Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and long-term outcomes of 12 patients homozygous for S135L, 25 patients compound heterozygous for S135L, and 105 patients homozygous for two GALT-null (G) alleles. This is the largest cohort of S135L patients characterized to date. Acute disease following milk exposure in the newborn period was common among patients in all 3 comparison groups in our study, as were long-term complications in the domains of speech, cognition, and motor outcomes. In contrast, while at least 80% of both GALT-null and S135L compound heterozygous girls and women showed evidence of an adverse ovarian outcome, prevalence was only 25% among S135L homozygotes. Further, all young women in this study with even one copy of S135L achieved spontaneous menarche; this is true for only about 33% of women with classic galactosemia. Overall, we observed that while most long-term outcomes trended milder among groups of patients with even one copy of S135L, many individual patients, either homozygous or compound heterozygous for S135L, nonetheless experienced long-term outcomes that were not mild. This was true despite detection by newborn screening and both early and life-long dietary restriction of galactose. This information should empower more evidence-based counseling for galactosemia patients with S135L.
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  • Management of Asymptomatic Sporadic Non-Functioning Pancreatic Neuroendocrine Neoplasms No Larger Than 2 Cm: Interim Analysis of Prospective ASPEN Trial
    Publication . Partelli, S; Massironi, S; Zerbi, A; Niccoli, P; Kwon, W; Landoni, L; Panzuto, F; Tomazic, A; Bongiovanni, A; Kaltsas, G; Sauvanet, A; Bertani, E; Mazzaferro, V; Caplin, M; Armstrong, T; Weickert, M; Ramage, J; Segelov, E; Butturini, G; Staettner, S; Cives, M; Frilling, A; Moulton, C; He, J; Boesch, F; Selberheer, A; Twito, O; Castaldi, A; De Angelis, C; Gaujoux, S; Holzer, K; Wilson, C; Almeamar, H; Vigia, E; Muffatti, F; Lucà, M; Lania, A; Ewald, J; Kim, H; Salvia, R; Rinzivillo, M; Smid, A; Gardini, A; Tsoli, M; Hentic, O; Colombo, S; Citterio, D; Toumpanakis, C; Ramsey, E; Randeva, H; Srirajaskanthan, R; Croagh, D; Regi, P; Gasteiger, S; Invernizzi, P; Ridolfi, C; Giovannini, M; Jang, JY; Bassi, C; Falconi, M
    2022-11Journal article Open access Show more