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  • Pregnancy in Patients With McArdle's Disease
    Publication . Rodrigues Dos Santos, J; Távora, C; Nogueira da Fonseca, I; Cruz, D
    The influence of hereditary disorders of metabolism in pregnancy can be unclear, probably due to their rarity. McArdle's disease does not have an impact on fertility; therefore, some cases of pregnancy have been reported in patients with McArdle's disease. This article reviews published cases of pregnant women with McArdle's disease, focusing on the period of pregnancy, delivery, and postpartum. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), the authors conducted a literature search of PubMed, Web of Science, and Dialnet, as well as the journal Ata Portuguesa de Ginecologia e Obstetrícia (Journal of the Portuguese Societies of Gynecology and Obstetrics). The authors searched for articles in Portuguese, English, French, and Spanish using the combination of keywords "pregnancy" and any of the following: "McArdle's Disease", "Type V Glycogenosis", or "Myophosphorylase", available as of February 18, 2023. Thirteen articles corresponded to the search criteria, describing a total of 26 patients with McArdle's disease and 37 pregnancies (one of them a twin pregnancy). No case reports or case series were excluded. The objective was to evaluate obstetric index, comorbidities, gestational age, description of pregnancy evolution, mode of delivery, intrapartum pharmacological measures, and clinical evolution in the postpartum period. Of the 16 cases in which age of the patient was mentioned, the mean age was 27.75 years. Of the 18 cases in which the obstetric index was mentioned, 13 (72.2%) pregnancies were first pregnancies and 5 (27.8%) were second pregnancies. In addition to McArdle's disease, some patients had other comorbidities: one had Crohn's disease; one had dilated cardiomyopathy; one had grade II obesity; one had arterial hypertension, dyslipidemia, gastroesophageal reflux disease, and grade III obesity; and one had recurrent tonsillitis and allergic rhinitis. The mean age of pregnant women was 27.75 years. In most cases (75.7%), there was no mention of complications during pregnancy. There were four (10.8%) cases of rhabdomyolysis (two triggered by infectious diseases, one by exercise, and one with no evident trigger). Two women developed gestational diabetes, one had pre-eclampsia, one patient with dilated cardiomyopathy had worsening complaints of heart failure, and one patient developed idiopathic thrombocytopenia, which resolved after delivery. Of the 18 patients questioned about tolerance to exercise, two (11.1%) reported worsening of myalgia during pregnancy, while the rest reported symptomatic improvement. In 16 cases, it was necessary to perform a cesarean section. The remaining 22 deliveries were vaginal. Of the 14 cases in which anesthesia was specified, 12 (85.7%) patients were given epidural and 2 patients were given general anesthesia. There were three reported cases of rhabdomyolysis after childbirth. Pregnancy in patients with McArdle's disease does not seem to be associated with more complications than pregnancy in women without the disease, and there may even be an improvement of the symptoms during pregnancy. This review will help physicians provide such patients with better counseling and take measures to prevent complications. Implementing protocols designed specifically for pregnancy, delivery, and postpartum in patients with McArdle's disease could be beneficial, reducing the episodes of rhabdomyolysis.
  • Blood-borne virus testing in European emergency departments: current evidence and service considerations
    Publication . Smout, E; Ruf, M; Buti, M; Pinto, IV; Nebbia, G; Hunter, L; Aldersley, MA; Esteves, C; Medina, D; Llaneras, J; Douthwaite, S; Page, EE
    Innovative testing approaches are needed to meet global targets for the blood-borne viruses (BBVs) HIV, hepatitis B virus (HBV) and hepatitis C virus (HCV). We conducted a systematic review of BBV testing in emergency departments (EDs) in Europe to evaluate prevalence, effectiveness of ED testing and linkage to care (LTC). We searched PubMed, Embase and Cochrane Library for articles on ED BBV testing published between January 2012 and July 2022. Studies conducted outside Europe or prior to 2012 were excluded owing to epidemiological and healthcare service variation, together with studies that did not report core parameters. Reference lists from included articles were manually searched. Seventeen original articles met the inclusion criteria. Seven studies reported on HIV testing only. ED prevalence: HIV Ab, 0.0%-1.1%; HBsAg, 0.2%-0.9%; and HCV RNA, 0.2%-3.9%. BBV testing uptake varied by policy and offer methodology: opt-out, provider-initiated: 9.7%-44.2%; electronic health record (EHR) modification: 52.1%-88.9%; and opt-in, provider-initiated: 3.9%-37.7%. LTC rates were 8.1%-100% and varied by BBV, generally highest for HIV and lowest for HCV. There was variable detail in outcome reporting and description of clinical LTC pathways. ED BBV testing in Europe is feasible and identifies high numbers of infections (including, where reported, new diagnoses and disengaged patients), often among marginalized populations who use open-access EDs for healthcare. Factors associated with higher levels of sustained testing uptake included opt-out testing (vs opt-in), EHR (vs provider-initiated) and integration of community services. We propose a toolkit of components necessary for a high-performing ED BBV testing programme.
  • Advancing Access to Intestinal Microbiota Transplant: Bridging the Gap Between National Practices and the European Strategy
    Publication . Dinis, L; Pinheiro, H; Póvoa, P; Calhau, C; Pestana, D; Marques, C
    Clostridioides difficile is an opportunistic pathogen that can cause a range of conditions, from asymptomatic carriage to severe illness, posing a significant public health threat due to its high mortality rates and substantial healthcare costs. Traditional treatment options, including antibiotics, often fail to eradicate the infection, leading to recurrent cases that severely impact patients' lives. Intestinal microbiota transplant (IMT) has emerged as an effective strategy for decolonizing pathogenic agents, demonstrating safety and efficacy, particularly in treating recurrent Clostridioides difficile infection (rCDI). Despite its potential, access to IMT is limited due to safety concerns, logistical challenges, and a lack of proper guidance, underscoring the urgent need for structured intestinal microbiota banks (IMBs). These organized facilities are crucial for the collection, screening, processing, and distribution of intestinal microbiota preparations, thereby facilitating the clinical application of IMT. In this narrative review, we discuss the relevance of applying IMT for the treatment of rCDI in Europe, with a focus on Portugal. We highlight the existence and distribution of IMBs across Europe and their importance in improving access to IMT. This review also addresses the challenges in creating an IMB and the development of such a structure in Portugal as a centralized repository for high-quality, standardized microbiota preparations, making IMT accessible for national hospitals. Additionally, it emphasizes the need to raise awareness among healthcare providers and the public to support the broader adoption of IMT.
  • Emergency department contribution to HCV elimination in the Iberian Peninsula
    Publication . Buti, M; Vaz-Pinto, I; Magno Pereira, V; Casado, M; Llaneras, J; Barreira, A; Esteves, C; Guimarães, M; Gorgulho, A; Mourão, T; Xavier, E; Jasmins, L; Reis, AP; Faria, N; Freitas, B; Andrade, G; Camelo-Castillo, A; Rodríguez-Maresca, MÁ; Carrodeguas, A; Medina, D; Esteban, R
    Background: Undiagnosed cases of hepatitis C virus (HCV) infection result in significant morbidity and mortality, further transmission, and increased public health costs. Testing in emergency departments (EDs) is an opportunity to expand HCV screening. The goal of this project was to increase the proportion of eligible patients screened for HCV in urban areas. Methods: An opportunistic automated HCV screening program was implemented in the EDs of 4 public hospitals in Spain and Portugal at different periods between 2018 and 2023. HCV prevalence was prospectively evaluated, and single-step or reflex testing was used for confirmation in the same sample. Results: More than 90% of the population eligible for testing were screened in the participating centers. We found HCV antibody seroprevalence rates ranging from 0.6 to 3.9%, with between 19 and 53% of viremic individuals. Conclusions: Opportunistic HCV screening in EDs is feasible, does not disrupt ED activities, is highly effective in increasing diagnosis, and contributes to WHO's HCV elimination goals.
  • Increasing and sustaining blood-borne virus screening in Spain and Portugal throughout the COVID-19 pandemic: a multi-center quality improvement intervention
    Publication . Vaz-Pinto, I; Ortega, E; Chivite, I; Butí, M; Turnes-Vázquez, J; Magno-Pereira, V; Rocha, M; Garrido, J; Esteves-Santos, C; Guimaraes, M; Mourão, T; Martínez Roma, M; Guilera, V; Llaneras-Artigues, J; Barreira-Díaz, A; Pérez Cachafeiro, S; Daponte Angueira, S; Xavier, E; Vicente, M; Garrido, G; Heredia, MT; Medina, D; García Deltoro, M
    Background: Around 57,000 people in Spain and Portugal currently living with HIV or chronic hepatitis C are unaware of their infection. The COVID-19 pandemic severely disrupted screening efforts for these infections. We designed an intervention to increase and sustain opportunistic blood-borne virus (BBV) screening and linkage to care (SLTC) by implementing the TEST model. Methods: The Plan Do Study Act (PDSA) method of quality improvement (QI) was implemented in 8 healthcare organizations (HCOs), including four hospitals, two clusters of community health centers, and two community-based organizations (CBOs). Baseline assessment included a review of BBV SLTC practices, testing volume, and results 12 months before the intervention. Changes in BBV testing rates over time were measured before, during, and after the COVID-19 lockdowns in 2020. A mixed ANOVA model was used to analyze the possible effect on testing volumes among HCOs over the three study periods. Intervention: BBV testing was integrated into normal clinical flow in all HCOs using existing clinical infrastructure and staff. Electronic health record (EHR) systems were modified whenever possible to streamline screening processes, implement systemic institutional policy changes, and promote QI. Results: Two years after the launch of the intervention in screening practices, testing volumes increased by 116%, with formal healthcare settings recording larger increases than CBOs. The start of the COVID-19 lockdowns was accompanied by a global 60% decrease in testing in all HCOs. Screening emergency department patients or using EHR systems to automate screening showed the highest resilience and lowest reduction in testing. HCOs recovered 77% of their testing volume once the lockdowns were lifted, with CBOs making the fullest recovery. Globally, enhanced screening techniques enabled HCOs to diagnose a total of 1,860 individuals over the research period. Conclusions: Implementation of the TEST model enabled HCOs to increase and sustain BBV screening, even during COVID-19 lockdowns. Although improvement in screening was noted in all HCOs, additional work is needed to develop strong patient linkage to care models in challenging times, such as global pandemics.