Browsing by Author "Ferreira, AC"
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- ABO-Incompatible Liver Transplantation in Acute Liver Failure: A Single Portuguese Center StudyPublication . Mendes, M; Ferreira, AC; Ferreira, A; RemĂŠdio, F; Aires, I; Cordeiro, A; Mascarenhas, A; Martins, A; Pereira, P; GlĂłria, H; Perdigoto, R; Veloso, J; Ferreira, P; Oliveira, J; Silva, M; Barroso, E; Nolasco, FINTRODUCTION: ABO-incompatible liver transplantation (ABOi LT) is considered to be a rescue option in emergency transplantation. Herein, we have reported our experience with ABOi LT including long-term survival and major complications in these situations. PATIENT AND METHODS: ABOi LT was performed in cases of severe hepatic failure with imminent death. The standard immunosuppression consisted of basiliximab, corticosteroids, tacrolimus, and mycophenolate mofetil. Pretransplantation patients with anti-ABO titers above 16 underwent plasmapheresis. If the titer was above 128, intravenous immunoglobulin (IVIG) was added at the end of plasmapheresis. The therapeutic approach was based on the clinical situation, hepatic function, and titer evolution. A rapid increase in titer required five consecutive plasmapheresis sessions followed by administration of IVIG, and at the end of the fifth session, rituximab. RESULTS: From January 2009 to July 2012, 10 patients, including 4 men and 6 women of mean age 47.8 years (range, 29 to 64 years), underwent ABOi LT. At a mean follow-up of 19.6 months (range, 2 days to 39 months), 5 patients are alive including 4 with their original grafts. One patient was retransplanted at 9 months. Major complications were infections, which were responsible for 3 deaths due to multiorgan septic failure (2 during the first month); rejection episodes (4 biopsy-proven of humoral rejections in 3 patients and 1 cellular rejection) and biliary. CONCLUSION: The use of ABOi LT as a life-saving procedure is justifiable in emergencies when no other donor is available. With careful recipient selection close monitoring of hemagglutinins and specific immunosuppression we have obtained acceptable outcomes.
- Acroparestesias, Diarreia e Dor Abdominal Recorrente â a Importância do âAwarenessâ no DiagnĂłstico da Doença RaraPublication . Freitas, J; Ferreira, AC; Vieira, JP; Candeias, F; Brito, MJ; Ramos, M; Farela Neves, J; Oliveira, L; Antunes, D; Sequeira, SIntrodução: A doença de Anderson-Fabry ĂŠ uma doença hereditĂĄria ligada ao cromossoma X causada pela deficiĂŞncia da enzima lisossomal alfa-galactosidase com acumulação de globotriaosilceramida e comprometimento multissistĂŠmico progressivo. No sexo masculino, manifesta-se geralmente na infância e adolescĂŞncia com acroparestesias, angioqueratomas e sintomas gastrointestinais, evoluindo na idade adulta precoce com complicaçþes cardĂacas, neurolĂłgicas e renais. Caso clĂnico: Jovem de 14 anos, sexo masculino, internado por infeção respiratĂłria. Na histĂłria clĂnica constatou-se quadro com cinco anos de evolução de dor abdominal intermitente, diarreia crĂłnica e episĂłdios recorrentes de dor nas mĂŁos e pĂŠs, tipo queimadura, agravados pela febre. O tio materno tinha um quadro clĂnico semelhante. Foi feita investigação reumatolĂłgica, gastrointestinal, auto-imune, neurolĂłgica e genĂŠtica, mas foi o âawarenessâ diagnĂłstico para esta entidade que motivou o pedido da atividade enzimĂĄtica da alfa-galactosidase A e confirmou o diagnĂłstico de doença de Anderson-Fabry. O estudo molecular do gene GLA revelou, em hemizigotia, a mutação c.195-1G>A. O estudo familiar confirmou a doença no tio materno e em mais um familiar do sexo masculino e trĂŞs do sexo feminino ComentĂĄrios: O diagnĂłstico da doença de Anderson-Fabry ĂŠ frequentemente tardio devido Ă raridade da doença, inespecificidade das manifestaçþes iniciais e ao vasto espectro de diagnĂłsticos diferenciais. O diagnĂłstico precoce ĂŠ importante pela intervenção na progressĂŁo da doença com terapĂŞutica enzimĂĄtica de substituição. O rastreio familiar ĂŠ fundamental para a detecção de casos prĂŠ-sintomĂĄticos e sintomĂĄticos ainda nĂŁo diagnosticados.
- Anemia, Thrombocytopenia and Acute Kidney Injury. A Diagnostic ChallengePublication . Cardoso Fernandes, S; Ferreira, AC; GĂłis, M; Viana, H; Nolasco, F
- AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with PolymicrogyriaPublication . Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brås, J; Duarte, ST; Guerreiro, RHereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have been reported in HSPs.1 Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S mutations. The disease is characterized by neonatal hypotonia that progresses to hypertonia and spasticity in early childhood, developmental delay, mental retardation, and poor or absent speech. Febrile or afebrile seizures may also occur.
- Apresentação ClĂnica da Intolerância HereditĂĄria Ă Frutose PrĂŠvia Ă Diversificação Alimentar. O Papel dos ExcipientesPublication . Dias, F; Tapadinhas, F; Ferreira, AC; Sequeira, SOs autores descrevem um caso de intolerância hereditĂĄria Ă frutose com apresentação clĂnica prĂŠvia de diversificação alimentar num lactente de dois meses, que apresentou um primeiro episĂłdio de hipoglicemia sintomĂĄtica (crise convulsiva generalizada), durante uma infecção respiratĂłria febril dispneizante, sob terapĂŞutica com claritromicina e betametasona orais. Aos 9 meses apresentou um segundo episĂłdio de hipoglicemia apĂłs ingestĂŁo de iogurte de aromas. A evidĂŞncia de hepatomegalia e os achados laboratoriais sugeriam o diagnĂłstico de doença de Von Gierke, nĂŁo confirmado por estudos moleculares. Posteriormente, a mĂŁe relatou episĂłdios de repetidos vĂłmitos, duas horas apĂłs a ingestĂŁo de certos alimentos, o que levou Ă suspeita clĂnica de intolerância hereditĂĄria Ă frutose, confirmada por anĂĄlise genĂŠtica. Poucos casos estĂŁo descritos de descompensação metabĂłlica de intolerância hereditĂĄria Ă frutose prĂŠvia Ă diversificação alimentar, sobretudo em lactentes exclusivamente amamentados. Conclui-se que algumas formulaçþes pediĂĄtricas de utilização comum contĂŞm excipientes que podem estar na origem de descompensação metabĂłlica da intolerância hereditĂĄria Ă frutose.
- Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as Hemolytic Uremic SyndromePublication . Navarro, D; Azevedo, A; Sequeira, S; Ferreira, AC; Carvalho, F; Fidalgo, T; Vilarinho, L; Santos, MC; Calado, J; Nolasco, FThrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.
- Biochemical and Anthropometric Outcomes in Paediatric Patients with Heterozygous Familial Hypercholesterolemia after COVID-19 Pandemic Lockdowns: An Exploratory AnalysisPublication . Peres, M; Moreira-RosĂĄrio, A; Padeira, G; Gaspar Silva, P; Correia, C; Nunes, A; Garcia, E; Faria, A; Teixeira, D; Calhau, C; Pereira-da-Silva, L; Ferreira, AC; CĂŠsar Rocha, JThe COVID-19 pandemic lockdowns affected the lifestyles of children and adolescents, leading to an increase in childhood obesity. Paediatric patients with familial hypercholesterolemia (FH) may be more susceptible to lockdown effects due to their increased cardiovascular risk. However, data are lacking. We investigated the effect of lockdowns on the metabolic profile of paediatric patients with FH. Blood lipids and anthropometry measured in September 2021-April 2022 were retrospectively compared with pre-pandemic values. Thirty participants were included (1-16 years; 57% female). From baseline to post-pandemic, median [P25, P75] blood LDL-C concentration was 125 [112, 150] mg/dL vs. 125 [100, 147] mg/dL (p = 0.894); HDL-C was 58 [52, 65] mg/dL vs. 56 [51, 61] mg/dL (p = 0.107); triglycerides were 64 [44, 86] mg/dL vs. 59 [42, 86] mg/dL (p = 0.178). The BMI z-score did not change significantly (0.19 [-0.58, 0.89] vs. 0.30 [-0.48, 1.10], p = 0.524). The lack of deterioration in metabolic profiles during lockdowns is positive, as some deterioration was expected. We speculate that patients and caregivers were successfully educated about healthy lifestyle and dietary habits. Our results should be interpreted with caution since the study sample was small and heterogeneous. Multicentre research is needed to better understand the impact of lockdowns on this population.
- Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Patients with PhenylketonuriaPublication . Luengo-PĂŠrez, LM; FernĂĄndez-Bueso, M; Ambrojo, A; Guijarro, M; Ferreira, AC; Pereira-da-Silva, L; Moreira-RosĂĄrio, A; Faria, A; Calhau, C; Daly, A; MacDonald, A; Rocha, JCCardiovascular diseases are the main cause of mortality worldwide. Patients with phenylketonuria (PKU) may be at increased cardiovascular risk. This review provides an overview of clinical and metabolic cardiovascular risk factors, explores the connections between body composition (including fat mass and ectopic fat) and cardiovascular risk, and examines various methods for evaluating body composition. It particularly focuses on nutritional ultrasound, given its emerging availability and practical utility in clinical settings. Possible causes of increased cardiometabolic risk in PKU are also explored, including an increased intake of carbohydrates, chronic exposure to amino acids, and characteristics of microbiota. It is important to evaluate cardiovascular risk factors and body composition in patients with PKU. We suggest systematic monitoring of body composition to develop nutritional management and hydration strategies to optimize performance within the limits of nutritional therapy.
- Bone Densitometry Versus Bone Histomorphometry in Renal Transplanted Patients: A CrossâSectional StudyPublication . Ferreira, AC; Mendes, M; Silva, C; Cotovio, P; Aires, I; Navarro, D; Caeiro, F; Salvador, R; Correia, B; Cabral, G; Nolasco, F; Ferreira, ABone loss leads to increase risk of fractures in renal transplantation. The aim of this study was to analyse the relationship between bone densitometry (DXA) findings, bone histomorphometry and bone-related molecules 1-year after renal transplantation. We performed a cross-sectional study of de novo renal transplanted patients that agreed to perform a bone biopsy and a DXA examination 1 year after transplantation. All patients underwent a laboratory evaluation, bone biopsy, DXA examination and cardiac CT 1 year after transplantation. 67 patients were included, 16 had a normal examination, and 18 patients were classified as having osteoporosis by DXA. Correlations between bone mineral density and T-scores of total femur and femoral neck were the ones that best correlated with bone volume assessed by a bone biopsy. The sensitivity of DXA for osteoporosis diagnosis was 47.0%, and the specificity was 81.2%. The positive predictive value was 50.0%, and the negative predictive value (NPV) was 80.0%. DXA parameters also correlated with klotho and sclerostin serum levels. In this population, a normal examination excluded the presence of osteoporosis, helping in identifying patients that would not benefit from therapy. Overall, densitometry in total femur and femoral neck correlated well with bone volume measured by bone biopsy.
- Bone Mineral Disease After Kidney TransplantationPublication . Torregrosa, JV; Ferreira, AC; Cucchiari, D; Ferreira, AChronic kidney disease-mineral bone disorder (CKD-MBD) after kidney transplantation is a mix of pre-existing disorders and new alterations. The final consequences are reflected fundamentally as abnormal mineral metabolism (hypercalcemia, hypophosphatemia) and bone alterations [high or low bone turnover disease (as fibrous osteitis or adynamic bone disease), an eventual compromise of bone mineralization, decrease bone mineral density and bone fractures]. The major cause of post-transplantation hypercalcemia is the persistence of severe secondary hyperparathyroidism, and treatment options include calcimimetics or parathyroidectomy. On turn, hypophosphatemia is caused by both the persistence of high blood levels of PTH and/or high blood levels of FGF23, with its correction being very difficult to achieve. The most frequent bone morphology alteration is low bone turnover disease, while high-turnover osteopathy decreases in frequency after transplantation. Although the pathogenic mechanisms of these abnormalities have not been fully clarified, the available evidence suggests that there are a number of factors that play a very important role, such as immunosuppressive treatment, persistently high levels of PTH, vitamin D deficiency and hypophosphatemia. Fracture risk is four-fold higher in transplanted patients compared to general population. The most relevant risk factors for fracture in the kidney transplant population are diabetes mellitus, female sex, advanced age (especially > 65 years), dialysis vintage, high PTH levels and low phosphate levels, osteoporosis, pre-transplant stress fracture and high doses or prolonged steroids therapy. Treatment alternatives for CKD-MBD after transplantation include minimization of corticosteroids, use of calcium and vitamin D supplements, antiresorptives (bisphosphonates or Denosumab) and osteoformers (synthetic parathyroid hormone). As both mineral metabolism and bone disorders lead to increased morbidity and mortality, the presence of these changes after transplantation has to be prevented (if possible), minimized, diagnosed, and treated as soon as possible.