19 documents found, page 1 of 2

Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and...

Background: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic informatio...

Rare Case of Sarcomatoid Squamous Cell Carcinoma Arising in an Ovarian Mature T...

Although mature cystic teratoma (MCT) is benign, malignant transformation (MT) occurs in ∼ 1% to 2% of all cases, and usually consists of squamous cell carcinoma (SCC), which accounts for ∼ 80% of the cases. Spindle-cell (sarcomatoid) carcinoma (SCSC) is an uncommon type of SCC, comprising up to 3% of all cases. The lack of characteristic symptoms and specific imaging findings may lead to preoperative misdiagno...

Modelling patterns in continuous streams of data

The untapped source of information, extracted from the increasing number of sensors, can be explored to improve and optimize several systems. Yet, hand in hand with this growth goes the increasing difficulty to manage and organize all this new information. The lack of a standard context representation scheme is one of the main struggles in this research area, conventional methods for extracting knowledge from d...

Groove Pancreatitis with Biliary and Duodenal Stricture: An Unusual Cause of Ob...

INTRODUCTION: Groove pancreatitis is an uncommon cause of chronic pancreatitis that affects the groove anatomical area between the head of the pancreas, duodenum, and common bile duct. CLINICAL CASE: A 67-year-old man with frequent biliary colic and an alcohol consumption of 30-40 g/day was admitted to the hospital complaining of jaundice and pruritus. Laboratory analysis revealed cholestasis and the ultrasound...

Finding and tracing human MSC in 3D microenvironments with the photoconvertible...

Mesenchymal Stem/Stromal Cells (MSC) are a promising cell type for cell-based therapies - from tissue regeneration to treatment of autoimmune diseases - due to their capacity to migrate to damaged tissues, to differentiate in different lineages and to their immunomodulatory and paracrine properties. Here, a simple and reliable imaging technique was developed to study MSC dynamical behavior in natural and bioeng...

Recomendações para o diagnóstico da forma tardia da doença de Pompe

INTRODUCTION: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. OBJECTIVE: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. MATERIAL AND METHODS: Bibliographic review a...

O C-erb-B2/HER2 no Cancro Gástrico: Importância Fisiopatológica em Época de Nov...

Clinical Dilemma in the Treatment of a Patient with Microangiopathic Haemolytic...

While haemolytic uraemic syndrome in children is predominantly associated with Shiga toxin -producing Escherichia coli (typically 0157:H7), some cases occur without associated diarrhoea, or as the manifestation of an underlying disorder other than infection. Haemolytic uraemic syndrome is characterised by microangiopathic anaemia, thrombocytopaenia and renal failure, on occasion accompanied by severe hypertensi...

Epigastralgias por osso espetado na parede gástrica

Meningitis in a patient with previously undiagnosed Crohn's disease