Mauriac Syndrome: A Rare Hepatic Glycogenosis in Poorly Controlled Type 1 Diabetes

Background: Hepatic glycogenosis (HG) is a complication of poorly controlled type 1 diabetes mellitus (T1DM), characterized by glycogen accumulation in hepatocytes. Mauriac syndrome (MS) is a glycogenic hepatopathy, initially described in 1930, characterized by growth failure, delayed puberty, cushingoid appearance, hepatomegaly with abnormal liver enzymes, and hypercholesterolemia. HG is a condition with good prognosis and fast resolution after adequate glycemic control (although it has potential for relapse), with no case of evolution to end-stage liver disease described. Case: We describe a 26-year-old female, with T1DM complicated by severe retinopathy. The patient maintained poor glycemic control since childhood, presenting glycated hemoglobin persistently higher than 10% and recurrent episodes of ketoacidosis. In adolescence, she developed hepatomegaly and fluctuating elevation of aminotransferases and triglycerides. A small, nonrepresentative hepatic biopsy suggested macrovacuolar steatosis and mild fibrosis. After 15 years of diabetes, the patient was referred for gastroenterology clinic due to chronic diarrhea and exuberant hepatomegaly. Laboratory showed persistent elevation of aminotransferases and triglycerides. Bilirubin, iron metabolism, and coagulation were normal; viral serologies and autoimmune study were negative. Upper endoscopy, ileocolonoscopy, and enteroscopy presented no lesions. Abdominal magnetic resonance imaging displayed massive hepatomegaly. Liver biopsy was repeated showing marked nuclear glycogenization, mild steatosis, and no fibrosis; electron microscopy revealed very large deposits of glycogen and pleomorphic mitochondria with an unusually dense matrix, described for the first time in this entity. The diagnosis of MS variant and diarrhea due to autonomic neuropathy were assumed. Conclusion: Currently, HG is a well-recognized disease that occurs at any age and can be present without the full spectrum of features initially described for MS. In the era of insulin therapy, this entity represents a rare complication, caused by low therapeutic compliance

Soluble human Suppression of Tumorigenicity 2 is associated with endoscopic activity in patients with moderate-to-severe ulcerative colitis treated with golimumab

Suppressor of Tumorigenicity 2 (ST2) is an IL33 receptor detected in the mucosa and serum of ulcerative colitis (UC) patients. We evaluated soluble ST2 (sST2) as a surrogate biomarker of disease outcome and therapeutic response, in moderate-to-severe UC patients treated with golimumab.Agência financiadora Merck Sharp and Dohme, Lda, Portugal MK8259-22info:eu-repo/semantics/publishedVersio

Inflammatory bowel disease, alpha-synuclein aggregates and Parkinson’s disease: the InflamaSPark protocol

Communication abstract: Proceedings of the 5th International Congress of CiiEM - Reducing inequalities in Health and Society, held at Egas Moniz’ University Campus in Monte de Caparica, Almada, from June 16th to 18th, 2021.This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.The hallmark of Parkinson’s disease (PD) is the accumulation of alpha-synuclein (AS) aggregates. Prior to the central nervous system involvement, PD establishes itself in the gut as a result of the complex interplay between microbiota, the host’s immune/neural systems and increased intestinal permeability. Inflammatory Bowel Disease (IBD) patients present a higher number of AS aggregates in the intestinal wall and an increased risk of developing PD. By studying AS aggregates in gut biopsy specimens of IBD patients and controls, this project aims to further clarify the pathophysiology of PD and to explore the potential of gut a biopsy for AS aggregates as a biomarker for prodromal PD.info:eu-repo/semantics/publishedVersio

How many biomarker measurements are needed to predict prognosis in Crohn's disease patients under infliximab?—A prospective study

BackgroundTimely stratification of Crohn's disease (CD) is essential for patients' management. The use of noninvasive accurate biomarkers is key to monitor treatment and to pursue mucosal healing, the ultimate treatment endpoint in CD. ObjectiveWe aimed to evaluate the performance of readily available biomarkers and develop risk matrices to predict CD progression. MethodsData from 289 CD patients receiving infliximab (IFX) maintenance therapy for 2 years was collected; those patients were included in DIRECT, a prospective multicenter observational study. Disease progression was evaluated using two composite outcomes incorporating clinical and drug-related factors, the first including IFX dose and/or frequency adjustments. Univariate and multivariable logistic regressions were used to calculate the odds ratios (OR) and to develop risk matrices. ResultsThe isolated presence of anemia at least once during follow-up was a significant predictor of disease progression (OR 2.436 and 3.396 [p 10.0 mg/L) and fecal calprotectin (FC; >500.0 mu g/g) in at least one visit were also significant predictors, while milder elevations (3.1-10.0 mg/L and 250.1-500.0 mu g/g) were only relevant when detected in at least two visits (consecutive or not). The combination of biomarkers in risk matrices had good ability to predict progression; patients simultaneously presenting anemia, highly elevated CRP and FC at least once had 42%-63% probability of achieving the composite outcomes. ConclusionThe combined evaluation of hemoglobin, CRP, and FC in at least one time point and their incorporation into risk matrices seems to be the optimal strategy for CD management, as data from additional visits did not meaningfully influence the predictions and may delay decision-making.Portuguese Group of Studies in Inflammatory Bowel Disease (GEDII)info:eu-repo/semantics/publishedVersio

Dadores com critérios expandidos na transplantação renal

Trabalho final de mestrado integrado em medicina área científica de Nefrologia, apresentado á Faculdade de Medicina da Universidade de CoimbraA doença renal crónica é um problema de saúde pública em todo o mundo e, actualmente, o transplante renal é amplamente reconhecido como o tratamento de escolha em pacientes que necessitam de terapia renal substitutiva, por apresentar melhores resultados em termos de esperança média de vida comparando com doentes de risco equivalente em diálise. No entanto, a falta de dadores, a par do crescente número de potenciais beneficiários, tem contribuído para aumentar a lacuna entre a oferta e a procura de órgãos viáveis para transplantação, com o consequente aumento das listas de espera em todo o mundo. Tal disparidade tem estimulado o desenvolvimento de estratégias alternativas por parte dos profissionais ligados à transplantação, de forma a proporcionar maior disponibilidade de órgãos. Com este objectivo foram desenvolvidos critérios clínicos menos restritivos na selecção de dadores para transplante renal. Surgiram assim os dadores com critérios expandidos (também conhecidos como dadores marginais ou sub-óptimos), que se podem definir como dadores cadáver que apresentam uma idade igual ou superior a 60 anos ou que, tendo uma idade compreendida entre os 50 e os 59 anos, possuem pelo menos duas de três comorbilidades específicas - história pessoal de hipertensão; óbito em decorrência de acidente cerebrovascular; níveis de creatinina sérica superiores a 1,5 mg/dL antes da recolha do rim. Com o recurso a dadores de idades mais extremas e com comorbilidades, como é o caso dos dadores com critérios expandidos, é esperado um risco acrescido de função diminuída do enxerto renal no pós-transplante. No entanto, o aumento significativo da idade média dos potenciais dadores renais, a par do desejo de diminuir o tempo que os doentes permanecem em lista de espera, tem levado alguns centros de transplantação a recorrer a esta classe de dadores. Os resultados publicados em diversos estudos acerca das consequências da aceitação destes critérios permanecem algo controversos, assim como a forma de optimizar o seu uso. Com este trabalho propomo-nos realizar uma revisão bibliográfica actualizada acerca da influência da idade e das comorbilidades do dador na função e sobrevida do enxerto renal.Chronic kidney disease is a worldwide public health problem, and currently kidney transplant is widely recognised as a first choice treatment on patients who need substitutive kidney therapy, as it achieves better results in terms of average life expectancy compared to equivalent risk patients going through dialysis. However, the lack of donors, as well as the growing number of potential beneficiaries has contributed to increase the gap between the offer and the demand of viable organs for transplantation leading to a consequent increase of worldwide waiting lists. Such gap has thus stimulated the development of alternative strategies developed by the professionals working within the transplant community in order to deliver a greater availability of organ. With this purpose, less restrictive criteria in the selection of donors for kidney transplant have been developed. Thus, expanded criteria donors have emerged (also known as marginal or sub optimal donors) who can be defined as cadaveric donors aged 60 or over, or that, being between 50 and 59, hold at least two of three specific comorbidities – personal history of high blood pressure, having died as a consequence of a cerebral and vascular incident, serum creatinine level higher than 1,5 mg/dL prior to the kidney extraction. With the resource to older aged donors possessing a comorbidity, as it is the case of expanded criteria donors, it is expected an increased risk of a decreased function in the renal graft after transplant. However the significant increase on the average age of the potential donor together with the wish to reduce the time length in which patients are kept in the waiting lists, has led to the use of this group of donors in some transplantation centres. The results on the consequences of the acceptance of these criteria, which have been published in several studies, remain somewhat controversial, as well as the way to optimize their use. With this study we propose to carry out an updated bibliographical revision about the influence of age and of donor comorbidity in the function and survival after kidney transplant

Adult Celiac Disease: The Importance of Extraintestinal Manifestations

Celiac disease (CD) is a chronic immune-mediated enteropathy driven by gluten and affecting individuals of all ages. The diagnosis of CD in adulthood is emerging and patients often present with nonclassical extraintestinal manifestations. We report the case of a 53-year-old man presenting with neuromuscular symptoms, skin rash, inconspicuous chronic diarrhea, marked weight loss, and biochemical markers of malabsorption. A strong clinical suspicion led to the diagnosis of CD with clinical recovery after the initiation of a gluten-free diet. Clinical presentation with atypical symptoms in adult CD patients is the rule and not the exception. Most of the extraintestinal manifestations depend on background autoimmune phenomena and micronutrient malabsorption. A gluten-free diet re-establishes homeostasis and prevents long-term complications