Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG. Methods A set of keywords related to epidemiology and CDG was defined. The keywords were combined through a custom Python script, search through the MEDLINE database, using PubMed as the search engine. The script retrieved the correspondent MEDLINE data from each article, and the relevant information was exported. Next, inclusion and exclusion criteria were set and applied during the selection phase. Finally, epidemiology-related information was extracted and compiled. Results One hundred sixty-five papers on CDG epidemiology were included in this literature review. Most of them reported on the frequency of symptoms in CDG patients followed in cohort studies, on pathogenic variant allelic frequency, and on the prevalence of the disorder in populations. According to this review, the most reported CDG was phosphomannomutase-2 deficiency (PMM2-CDG) followed in descending order by FKTN-CDG, EXT1/EXT2-CDG, ALG6-CDG, and PIGA-CDG. Conclusions We provide an overview on epidemiological data regarding 93 CDG by compiling information from the literature. Generating epidemiological data on CDG is important to appropriately target resources for CDG research and drug development and to support public health decision-making.

When the left cardinal vein fails to involute during fetal life, a persistent left superior vena cava (PLSVC) develops. PLSVC is a rare vascular anomaly, and the reported incidence is 0.3-0.5% in healthy individuals. It is usually asymptomatic and does not cause hemodynamic disturbances unless associated with cardiac malformations. If the PLSVC drains adequately into the right atrium and there are no cardiac abnormalities, catheterization of this vessel, including temporary and cuffed HD catheter insertion, is deemed safe. We present the case of a 70-year-old woman with acute kidney injury (AKI), in which the necessity to place an HD central venous catheter (CVC) through the left internal jugular vein led to the discovery of a PLSVC. Once it was shown that the vessel was adequately draining into the right atrium, this catheter was changed to a cuffed tunneled HD catheter, which was successfully utilized for HD sessions for three months and removed after the recuperation of renal function without complications.

The chapter focuses on the reflection around the relationship between entrepreneurial empowerment and regional development, based on the assumptions, methodology and results of a self-sustained supramunicipal project in entrepreneurship education, promoted by a wide network of partners representing all the municipalities of Baixo Alentejo, Portugal, and coordinated by the Polytechnic Institute of Beja (IPBeja). The project Promoting Entrepreneurship Education at the Schools of Baixo Alentejo (PEEBA) was carried out in collaboration with Elementary Schools (1st to 2nd Ciclos) and kindergartens of Baixo Alentejo with the objective to nurture entrepreneurial competencies in children and youngsters aged 3-12 through practical and experiential entrepreneurship education. It provided them with entrepreneurial skills and attitudes that will increase their opportunities, by helping them face their lives with more initiative and confidence and/or be more proactive at work, or even start their own business in a near future, in the hope that this may eventually contribute to reduce the brain drain in Baixo Alentejo.With the motto the socioeconomic future of our region will be shaped by the students we are educating now, the PEEBA is innovative and unique, since it consists in a platform that brings together all the key stakeholders in the field of entrepreneurship education within all the municipalities of a NUTS, in this particular case Baixo Alentejo, who show an interest in working collaboratively for a common goal: to create a shared ecosystem favourable to entrepreneurship and entrepreneurial capacity.

Supportive care in patients with chronic kidney disease refers to the application of palliative medicine principles and practices in nephrology. The main purpose is to reduce suffering by managing symptoms, helping with decision making and providing holistic support to the patient and family/caregiver in clinical, social, spiritual or nutritional distress, with a multidisciplinary team. We present the case of a 92-year-old male patient with chronic kidney disease of unknown etiology since 2004. In 2019, he was referred to our kidney disease supportive care program, presenting a serum creatinine of 5.44 mg/dL (estimated glomerular filtration rate of 9 mL/ min/1.73 m2). During the following three years, the patient lived at home independently, maintained good control of his chronic kidney diseaseassociated symptoms and preserved his functional status. We present this case as a practical example of how to approach an autonomous elderly, chronic kidney disease patient, with few comorbidities, who opted for supportive care.

Pneumatosis intestinalis (PI) and aeroportia have been rarely described in hemodialysis patients. We present a case of a 64-year-old woman on regular hemodialysis who presented with abdominal pain, vomiting, and diarrhea. Abdominal CT showed pneumatosis intestinalis and aeroportia suggestive of ischemic abnormalities. In this case, given the absence of transmural necrosis or bowel perforation, aeroportia seemed to be caused by nonocclusive mesenteric ischemia (NOMI), an increasingly recognized complication in hemodialysis patients. The patient was proposed for emergent exploratory laparotomy; however, she had a fatal outcome. Hemodialysis-dependent patients should be considered at risk of the "low-flow syndrome" of mesenteric arterial circulation. Prevention is crucial, and early detection of these entities is important for prompt diagnosis and management of mesenteric ischemia.

Background and aims Despite therapeutic advances, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) carry poor renal and survival outcomes. Prognostic elements are needed to guide treatment. Several studies explored determinants of AAV outcomes, but predictive factors are not well established. Poor prognosis factors have been lower glomerular filtration rate, lower serum C3, C3 deposition on immunofluorescence (IF), and recently platelet count below 250 × 109/L. Histopathological lesions have also been related to renal outcomes. In this study we aim to correlate serum immune and inflammatory biomarkers with renal histological lesions’ severity. Methods We retrospectively analysed histopathological findings of adults with biopsy-proven AAV renal involvement through Berden's histopathological classification (BHC) classes, Brix's renal risk score (BRS), interstitial fibrosis and tubular atrophy (IFTA) and crescentic glomeruli percentages (%), C3 positive IF and presence of interstitial hemorrhage (IH). Patients’ ANCA titer (ANCAd) measured by ELISA, serum C3 and C-reactive protein (CRP) were documented at diagnosis. ANCA titer was also registered at last follow-up date (ANCAf). Univariate statistical analysis was used to correlate every biomarker with every histologic variable mentioned. C3 and CRP were used as continuous variables and ANCA titers as continuous and categorical variables. As a continuous variable, ANCA titers above laboratorial detection were not considered (i.e. >134). Seronegative AAV were not considered for titer analysis. BRS was considered as continuous variable for its score and as categorical for its risk group. Multivariate analysis was used to identify independent predictors renal biopsy findings. Results We included 46 patients with biopsy-proven AAV kidney involvement from January 2006 to January 2023, 65.2% male (n = 30), median age 66.5 (60.75-74.5), 78.3% (36) MPO, 15.2% (7) PR3 and 6.5% (3) seronegative; and 6.5% (3) had concomitant anti-GBM+ (all MPO). Categorization by ANCAd revealed 7.7% (3) 0-19 UI/mL, 7.7% (3) 20-39, 7.7% (3) 40-59, 20.5% (8) 60-99, 12.8% (5) 100-134 and 43.6% >134. According to BHC, biopsies were: 17.4% (8) global sclerotic, 28.3% (13) mixed, 39.1% (18) crescentic, and 15.2% (7) focal. According to BRS, 2.2% (1) had low risk, 28.3% (13) medium risk and 58.7% (27) high risk of ESKD. 5 biopsies had incomplete information for a score result. Median BRS was 9 – high risk. IF C3 was positive 28.3% (16) biopsies, and IH in 10.9% (5). Median % IFTA was 40% and median %crescentic was 33%. In univariate analysis, ANCAd did not correlate to BHC class both as continuous and categorical variable (p = 0.477 and p = 0.685 respectively), nor to %IFTA (p = 0.935, p = 0.938), nor %crescents (p = 0.975, p = 0.938), nor C3 IF staining (p = 0.690, p = 0.344), nor IH presence (p = 0.773, p = 0.897), nor to BRS risk groups (p = 0.339, p = 0.584). ANCAd titer did not correlate to BRS score value (p = 0.072, r = 0.372), both as continous variables. However, ANCAf did correlate to BRS´s risk groups (p = 0.037), with ANCAf values higher in the high-risk compared to the medium-risk group (p = 0.016). In multivariate analysis including age and gender, ANCAf persists as a predictor of BRS´s risk groups (p<0.001, model p<0.001). C3 levels at diagnosis did not have statistically significant correlation with neither histological finding: BHC class (p = 0.282), BRS score (p = 0.683), % IFTA (p = 0.753), % crescents (p = 0.989), C3 on IF (p = 0.472) and IH (p = 0.773). No significant correlation was seen when considering CRP at diagnosis: BHC class (p = 0.162), BRS (p = 0.276), %IFTA (p = 0.343), %crescents (p = 0.071), C3 on IF (p = 0.657) and IH (p = 0.951). Conclusions ANCA titer at diagnosis, serum C3 and CRP did not correlate with histological severity and chronicity lesions in our population. Nonetheless, larger cohorts, systematization of biopsy findings and studies on newer biomarkers might bring helpful information to expected prognosis and initial therapeutic approaches. A positive correlation between ANCA levels at the last follow-up date and medium and high-risk BRS groups on initial biopsy might be further explored in larger studies.

A alimentação é uma questão importante do Património Cultural Imaterial. A sua dimensão de saber e saber-fazer, transmitidos de geração em geração, alicerçados principalmente nas tradições orais e centrados nas práticas culturais e sociais, conferem poder, identidade e continuidade temporal às comunidades. Em 2000, o Conselho de Ministros de Portugal emanou uma resolução que visa estudar e preservar “o  receituário  tradicional  português,  assente,  designadamente,  em  matérias-primas  de fauna  e  flora  utilizadas  ao  nível  nacional,  regional  ou local, bem como em produtos agroalimentares produzidos em Portugal, e que, pelas suas características próprias, revele interesse do ponto de vista, histórico, etnográfico,   social   ou   técnico,   evidenciando   valores   de memória,  antiguidade,  autenticidade,  singularidade  ou exemplaridade” (RCM Nº 96/2000). Assim, a lei estabelece diversas regras com o objetivo de preservar e desenvolver a promoção de uma gastronomia nacional como elemento representativo do património cultural português. O processo de definição das bases do patrimônio é uma construção das elites e possui uma dimensão política e ideológica que não pode ser escamoteada e que determina o que deve ser valorizado, num determinado momento temporal e contexto político. Neste sentido, os territórios são quebra-cabeças políticos que refletem identidades desejadas e transitórias, ao mesmo tempo cristalizadas e transformadas no tempo. O património é dotado de uma dimensão política determinante na identidade gastronómica e alimentar, no que se refere ao local, regional e global. Já as instituições de governança local buscam estimular os territórios sob a sua influência, por meio da aceitação e / ou promoção de ações de marketing e “rótulos” geradores de marcas locais que, muitas vezes, reforçam símbolos de identidade ou os (re) inventam. Os processos de turistificação dos lugares históricos e centros das cidades estão pouco distantes dessas atitudes e, tal como nestes casos, a intenção inicial de preservação dos sistemas alimentares, pode resultar na adulteração dos pratos servidos

Background and Aims Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) are systemic autoimmune diseases that involve small- and medium-sized blood vessels. AAV compromises the overall survival of patients, and its kidney involvement can lead to end-stage kidney disease (ESKD). Our aim was to determine whether the serum C3, C-reactive protein (CRP) and ANCA levels could predict kidney survival. Method We retrospectively reviewed patients with AAV and kidney involvement (n = 62) from 2006 to 2022. Demographic, clinical and laboratory data were collected. Patients’ ANCA title were measured by ELISA, and Glomerular Filtration Rate (GFR) was estimate by CKD-EPI equation. ANCA, C3 and CRP were measure at diagnosis, remission, and last follow-up. ANCA was analyzed as continuous and categorical variable. We analyzed factors associated with dialysis dependency at diagnosis and evolution to ESKD. Multivariable adjusted Cox regression analysis was performed for assessing predictive variables associated with dialysis outcome. Results The cohort included 62 total patients, with median age of 69 (63-77) years old, 44% were female, 35.5% (n = 22) presented with alveolar haemorrhage, 82.3% (n = 51) were MPO-ANCA+ and 4 patients had concomitant anti-GBM+. At admission, the median ANCA title was 80.5 UI/mL (36.75- 112.25), C3 was 108.5 mg/dL (90-130.25) and CRP 7.5 mg/dL (2.14-14.34). The GFR was 11.17±11.16 at admission and 24% of patients required dialysis at admission (n = 15). At 3 months 30% (n = 19) required dialysis, 10% at 6 months (n = 6) and 5% at 1 year (n = 3). The median time until dialysis was 488.98 (0-5702) days. Twenty (32.3%) patients died during the study period. The title of ANCA at admission, as categorical variable, did not associate with requirement of kidney replacement therapy during follow-up (p = 0.870) nor as a continuous variable (p = 0.523). Considering C3 and CRP, only low C3 at last follow-up correlates with ESKD (p = 0.028). Median C3 at last follow-up was 91.5 mg/dl (79.5-107) in ESKD patients and 114.5 mg/dl (92-142.75) in patients that do not require dialysis. In the cox regression analysis of kidney survival, C3 levels at last follow-up were significantly associated with a shorter time until dialysis (p = 0.006). In a multivariate analysis, including age and gender, C3 levels at last follow-up lost significance to predict time until ESKD (p = 0.083, model p = 0.005). Initial GFR was not correlated with ANCA title at admission (r = 0.220, p = 0.205) nor as a categorical variable (p = 0.592). At remission, GFR was not correlated with ANCA title (r = 0.383, p = 0.349). Considering factors associated with the need for dialysis at admission, only CRP levels at admission were significantly higher (p = 0.035) in those who required dialysis. ANCA title and C3 at admission did not correlate with dialysis at admission (p = 0.875, p = 0.702). In multivariate analysis, including age and gender, CRP maintain its significancy (p = 0.036, model p = 0.044). Conclusion C3 and CRP levels have been studied as possible factors predicting kidney survival, however, results are not consistent. CRP is a marker of inflammation and C3 represents complement activity, these serologic markers could be important to identify patients at risk for ESKD. In our study CRP levels seems to be related to dialysis requirement at admission. These patients should be followed more closely and carefully to improve kidney survival.