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Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechani...

Primary familial and congenital polycythaemia (PFCP) is a disease characterized by increased red blood cell mass, and can be associated with mutations in the intracellular region of the erythropoietin (EPO) receptor (EPOR). Here we explore the mechanisms by which EPOR mutations induce PFCP, using an experimental system based on chimeric receptors between epidermal growth factor receptor (EGFR) and EPOR. The des...

Evolutionary Constraints in the b-Globin Cluster: The Signature of Purifying Se...

Human hemoglobins, the oxygen carriers in the blood, are composed by two α-like and two β-like globin monomers. The β-globin gene cluster located at 11p15.5 comprises one pseudogene and five genes whose expression undergoes two critical switches: the embryonic-to-fetal and fetal-to-adult transition. HBD encodes the δ-globin chain of the minor adult hemoglobin (HbA2), which is assumed to be physiologically irrel...

An unusual cause of acute cardiogenic shock in the operating room

A 51-year-old man with a renal carcinoma with inferior vena cava (IVC) invasion was referred to our hospital for the performance of a radical nephrectomy with IVC thrombus excision. To prevent embolism, an IVC filter was implanted the day before surgery below the suprahepatic veins. On nephrectomy completion, the clinical status of the patient started to deteriorate and an unsuccessful attempt was made to excis...

MÓDULO 8 - Pediatria do Internamento de Medicina e Subespecialidades

MÓDULO 1 - Urgência, Laboratório e Radiologia

Physics of Seismo-electromagnetic Phenomena

The seismo-electromagnetic phenomena (SEMG) are integrated in a relatively recent research field that studies diverse phenomena such as: unusual seismo-electrical signals [1], abnormal ultra-low-frequency (ULF) seismo-electromagnetic emissions [2], very-low-frequency (VLF) and low-frequency (LF) radiobroadcast anomalies associated with ionosphere perturbations [3], variation of total electron content of the ion...

Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydroge...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp d...

VEGF/Ang-2 imbalance: the crosslinking between methylglyoxal and vascular dysfu...

Purpose Accumulation of methylglyoxal (MGO) in retinas of diabetic rats has been implicated in the formation of acellular capillaries, suggesting an important role for MGO in the vascular dysfunction observed in diabetes. In this study, we hypothesize that increased levels of MGO in retinal pigment epithelium (RPE) cells disturbs the balance VEGF/Ang2 secreted to the extracellular milieu, promoting apoptotis an...

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the d...

Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet hyperserotonemia in a proportion of patients and its heritability within affected families suggest that genes involved in the serotonin system play a role in this disorder. The role in autism etiology of seven candidate genes in the serotonin metabolic and neurotransmission pathways and mapping to autism linkage regi...

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients

Mutations in the coding sequence of the methyl-CpG-binding protein 2 gene (MECP2), which cause Rett syndrome (RTT), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been established. In this study, the MECP2 gene was scanned in a Portuguese autistic population, hypothesizing that the phenotypic spectrum of mutations extends beyond the traditional diag...