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Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and hypercalciuria. The WNK4 protein encodes a protein kinase involved in the regulation of various renal ion channels. In order to elucidate the contribution of WNK4 genetic variants to hypertension and/or osteoporosis, we analyzed 271 control individuals and a cohort of 448 hypertensive and 372 osteoporosis patients from the Portuguese population. Ten genetic variants were detected in 4.3% of the population under study, none of which revealed any significant association to the hypertension phenotype. In contrast, a rare missense alteration in a highly conserved arginine residue in exon 17 showed an association to the osteoporosis group. Our data suggest that WNK4 polymorphism rs56116165 i...
Acute liver failure is rarely secondary to lymphoma or leukaemia and it is extremely uncommon as the initial presentation of malignancy. We report a case of a young adult patient with severe acute liver failure referred for liver transplant, in which a Burkitt acute lymphoblastic leukaemia was diagnosed by bone marrow examination. A complete recovery and long remission were obtained with chemotherapy.
The authors present the case of a 44-year-old female patient with Systemic Lupus Erythematosus diagnosed 4 years earlier. She presented with constitutional symptoms and back pain and one month later a diagnosis of Non Hodgkin Lymphoma was established (subtype Diffuse Large B Cells Lymphoma). The risk of malignancy associated to SLE is discussed.
The westernmost occurrence of Caulerpa prolifera on the Atlantic European coast has been accepted in recent decades, to be Huelva province, southern Spain. In April 2011, this species was found in Ria Formosa, southern Portugal, extending its westernmost limit along the Iberian Peninsula coastline. In the course of research into this species it was discovered that this alga had been found in Ria Formosa in the 19th century by the naturalist Welwitsch and subsequently in the 1930s by others but it was never found in the many field studies conducted in Ria Formosa during the past few decades. The species had therefore either become extinct in the area or persisted as a cryptic undetected stage. In order to investigate the source of colonization and to verify the genetic identity, a partial cpDNA region (tufA gene) was sequenced. Comparis...
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