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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
Get PDFPhosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, d-galactose, which has been shown to improve many of the patients' symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts' opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.info:eu-repo/semantics/acceptedVersio
Impacto da pandemia COVID-19 na qualidade de imagem na radiografia do tórax em Unidade de Cuidados Intensivos
No full textImaging in the Intensive Care Unit (ICU) plays a crucial role in patient care, chest radiography is the
most requested exam for COVID – 19 patients in ICU context. The high risk of exposure to the virus may
influence the quality of the exams. The objective of this study is to compare the fulfillment of the criteria for
good performance in chest radiography in the ICU, before and during the critical phase of the pandemic COVID – 19. Thirty-two images were evaluated, sixteen before the pandemic and sixteen to COVID –19 patients, according to a scale of 8 items, scored 8 to 25 points, inversely proportional to the degree of compliance. There were no significant differences in the mean values between the groups, except in the presence of artifacts, showing that the images performed on COVID - 19 patients met these criteria better/more effectively. The results suggest that, in spite of the increased stress resulting from exposure to the new virus, the quality standard in the ICU exams is maintained.A imagem nas Unidade de Cuidados Intensivos (UCI) desempenha um papel crucial na assistência ao
paciente, sendo a radiografia ao tórax o exame mais requisitado aos pacientes COVID-19 em contexto de UCI. O elevado risco de exposição ao vírus poderá influenciar a qualidade de execução dos exames. O objetivo deste estudo é comparar o cumprimento dos critérios de boa realização em radiografia do tórax em UCI, antes e durante a fase crítica da pandemia COVID-19. Avaliaram-se 32 imagens, 16 realizadas antes da pandemia e 16 a doentes COVID-19, de acordo com uma escala de 8 itens, com pontuação entre 8 e 25 pontos, inversamente proporcional ao grau de cumprimento. Não se observaram diferenças significativas ao nível dos valores médios entre os grupos, exceto na presença de artefactos, constatando-se que os exames realizados a doentes COVID-19 cumpriram melhor/mais eficazmente este critério. Os resultados sugerem que, apesar do acréscimo de stress derivado à exposição ao novo vírus, se mantém o padrão de qualidade na realização de exames em UCI.info:eu-repo/semantics/publishedVersio
Preparing to Perform Trauma and Orthopaedic Surgery on Patients with COVID-19
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Development and preliminary validation of the Behçet’s syndrome Overall Damage Index (BODI)
Get PDFObjective: To develop and validate the evidence-based and consensus-based Behçet's Syndrome Overall Damage Index (BODI).
Methods: Starting from 120 literature-retrieved preliminary items, the BODI underwent multiple Delphi rounds with an international multidisciplinary panel consisting of rheumatologists, internists, ophthalmologists, neurologists, and patient delegates until consensus was reached on the final content. The BODI was validated in a cross-sectional multicentre cohort of 228 patients with Behçet's syndrome (BS) through the study of (a) correlation between BODI and Vasculitis Damage Index (VDI) and (b) correlation between BODI and disease activity measures (ie, Behçet's Disease Current Activity Form (BDCAF), Physician Global Assessment (PGA), Patient Global Assessment (PtGA)), c) content and face validity and (d) feasibility.
Results: The final BODI consists of 4 overarching principles and 46 unweighted-items grouped into 9 organ domains. It showed good to excellent reliability, with a mean Cohen's k of 0.84 (95% CI 0.78 to 0.90) and a mean intra-class correlation coefficient of 0.88 (95% CI 0.80 to 0.95). Overall, 128 (56.1%) patients had a BODI score ≥1, with a median score of 1.0 (range 0-14). The BODI significantly correlated with the VDI (r=0.693, p<0.001), demonstrating to effectively measure damage (construct validity), but had greater sensitivity in identifying major organ damage and did not correlate with disease activity measures (ie, BDCAF: p=0.807, PGA: p=0.820, PtGA: p=0.794) discriminating damage from the major confounding factor. The instrument was deemed credible (face validity), complete (content validity) and feasible by an independent group of clinicians.
Conclusions: Pending further validation, the BODI may be used to assess organ damage in patients with BS in the context of observational and controlled trials.info:eu-repo/semantics/publishedVersio
Remaining kidney volume indexed to weight as a strong predictor of estimated glomerular filtration rate at 1 year and mid‐term renal function after living‐donor nephrectomy ‐ a retrospective observational study
Get PDFThe donors' estimated glomerular filtration rate (eGFR) after living nephrectomy has been a concern, particularly in donors with smaller kindeys. Therefore, we developed this retrospective observational study in 195 donors to determine the ability remaining kidney volume indexed to weight (RKV/W) to predict eGFR at 1 year through multivariate linear regression and to explore this relationship between annual eGFR change from 1 to 4 years postdonation evaluated by a linear mixed model. Comparing RKV/W tertiles (T1, T2, T3), RKV/W was a good predictor of 1-year eGFR which was significantly better in T3 donors. Gender, predonation eGFR, and RKV/W were independent predictors of eGFR at 1-year. In a subgroup with predonation eGFR < 90mL/min/1.73 m2 , a significant prediction of eGFR < 60mL/min/1.73 m2 was detected in males with RKV/W ≤ 2.51cm3 /kg. Annual eGFR (ml/min/year) change from 1 to 4 years was + 0.77. RKV/W divided by tertiles (T1-T3) was the only significant predictor: T2 and T3 donors had an annual eGFR improvement opposing to T1. RKV/W was a good predictor of eGFR at 1 year, independently from predonation eGFR. A higher RKV/W was associated with improved eGFR at 1 year. A decline in eGFR on the four years after surgery was only noticeable in donors with RKV/W ≤ 2.13cm3 /kg.info:eu-repo/semantics/publishedVersio
Comorbidoma na Insuficiência Cardíaca Aguda: O Impacto de Tudo o Resto
Get PDFIntroduction: Heart failure frequently coexists with several comorbidities. Our aim is to evaluate the prognostic role of various comorbidities in the risk of acute heart failure development.
Material and methods: Comorbidities of patients with acute heart failure were, retrospectively, compared to a control group of patients with chronic heart failure admitted to an Internal Medicine unit in a 2-year period. Logistic regression models were constructed to determine their association with acute heart failure and to develop a comorbidome.
Results: We identified 229 patients with acute heart failure and 201 patients with chronic heart failure. Age and female gender were higher in acute heart failure group (p < 0.001) as was the number of comorbidities (4.0 ± 3.0 vs 4.0 ± 2.0, p = 0.044). Hyperuricemia (odds ratio 2.46, confidence interval 95% 1.41 - 4.31, p = 0.002), obesity (odds ratio 2.22, confidence interval 95% 1.31 - 3.76, p = 0.003), atrial fibrillation (odds ratio 1.93, confidence interval 95% 1.31 - 2.87, p = 0.001), peripheral artery disease (odds ratio 2.12, confidence interval 95% 1.01 - 4.42, p = 0.046) and chronic kidney disease (odds ratio 2.47, confidence interval 95% 1.65 - 3.71, p < 0.001) were associated with acute heart failure. Obesity, atrial fibrillation, peripheral artery disease and chronic kidney disease were identified as independent risk factors. Patients with multiple comorbidities had a superior risk of hospitalization due to heart failure: zero comorbidities - odds ratio 0.43, 95% confidence interval 0.28 - 0.67, p < 0.001; one comorbidity - odds ratio 0.69, 95% confidence interval 0.47 - 1.01, p = 0.057; two comorbidities - odds ratio 1.85, 95% confidence interval 1.11 - 3.08, p = 0.019; ≥ three comorbidities - odds ratio 5.81, 95% confidence interval 2.77 - 12.16, p < 0.001.
Discussion: This study shows an association between several comorbidities and hospital admission due to acute heart failure. The association seems to strengthen in the presence of multiple comorbidities.
Conclusion: A comorbidome is a useful tool to identify comorbidities associated with higher risk of acute heart failure. The identification of vulnerable patients may allow multidimensional interventions to minimize future hospital admissions.info:eu-repo/semantics/publishedVersio
Exophiala Keratitis following Descemet Stripping Automated Endothelial Keratoplasty
Get PDFPurpose: To report a case with Exophiala spp. keratitis in a Portuguese patient.
Methods: A case report with deep corneal brown-pigmented infiltrates that developed 2 months after a Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) for pseudophakic bullous keratopathy.
Results: Diagnosis was established by positive direct examination and cultures from the surgically obtained corneal button. Slit-lamp images and anterior segment optical coherence tomography (AS-OCT) scans were obtained.
Conclusion: This is the first described case of fungal keratitis caused by Exophiala spp. in Portugal and, to our knowledge, the first case following DSAEK in the literature.info:eu-repo/semantics/publishedVersio
Violência no namoro – conhecimentos e atitudes dos adolescentes e avaliação da efetividade de uma intervenção breve em alunos do ensino secundário
Get PDFTeen’s inexperience and willingness to please others make them especially susceptible to violent behaviour in relationships, which they accept as natural and as manifestations of love.
This study determines the prevalence of dating violence (DV) in a sample of adolescents from a high school in the northern region of Portugal, their knowledge and attitudes about DV, as well as the effectiveness of a brief intervention to empower adolescents to deal with DV.
This longitudinal, interventional study randomly selected adolescents from a high school and divided them into six groups. Three of the six groups were subject to an intervention about DV. CADRI (Conflict in Adolescent Dating Relationships Inventory) and ADV (Attitudes Toward Dating Violence) surveys were filled out, of which the latter was repeated in the intervention group.
138 adolescents from regular and professional education were included. 75.5% of these adolescents resorted to abusive conflict resolution strategies, 33% to severe violence and 40.6% were victims of severe violence. Males revealed higher legitimization of emotional, physical and sexual violence perpetrated by both males (EVM, PVM, SVM) and females (EVF, PVF, SVF). 69 adolescents participated in the intervention, whereby girls had a non-significant decrease in the legitimacy of SVF, whereas boys showed a non-significant decrease in the legitimacy of EVM.
A high percentage of adolescents used abusive conflict resolution and severe violence strategies. Despite the active participation of adolescents during the intervention, its impact was lower than expected.info:eu-repo/semantics/publishedVersio
Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort
Get PDFA key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognition within the Genetic Frontotemporal Dementia Initiative (GENFI), a large familial FTD cohort of C9orf72, GRN, and MAPT mutation carriers. 627 participants undertook at least one of the tasks, and were separated into mutation-negative healthy controls, presymptomatic mutation carriers (split into early and late groups) and symptomatic mutation carriers. Groups were compared using a linear regression model with bootstrapping, adjusting for age, sex, education, and for the FP recognition test, language. Neural correlates of social cognition deficits were explored using a voxel-based morphometry (VBM) study. All three of the symptomatic genetic groups were impaired on both tasks with no significant difference between them. However, prior to onset, only the late presymptomatic C9orf72 mutation carriers on the FER test were impaired compared to the control group, with a subanalysis showing differences particularly in fear and sadness. The VBM analysis revealed that impaired social cognition was mainly associated with a left hemisphere predominant network of regions involving particularly the striatum, orbitofrontal cortex and insula, and to a lesser extent the inferomedial temporal lobe and other areas of the frontal lobe. In conclusion, theory of mind and emotion processing abilities are impaired in familial FTD, with early changes occurring prior to symptom onset in C9orf72 presymptomatic mutation carriers. Future work should investigate how performance changes over time, in order to gain a clearer insight into social cognitive impairment over the course of the disease.info:eu-repo/semantics/publishedVersio