pelizaeus-merzbacher disease/albúmina

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Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.

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Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder of central nervous system (CNS) myelination typically affecting males. A genomic duplication of variable size at Xq22.2, containing the entire proteolipid protein 1 gene (PLP1), is responsible for approximately 60-70% of PMD cases.

Anti-inflammatory activities of human lactoferrin in acute dextran sulphate-induced colitis in mice.

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In this study, we investigated the anti-inflammatory effects of orally administered human lactoferrin (hLF) and two peptides, based on the bactericidal region of hLF (HLD1 and HLD2), on the course of experimental colitis. Acute colitis was induced in C57Bl/6 mice by giving 5% dextran sulphate (DX)

Studies on the pre-alpha-lipoprotein in patients with familial lecithin: cholesterol acyltransferase deficiency.

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The present study shows that regular alpha1- and pre-alpha-lipoproteins cannot be detected in serum of patients with familial lecithin: cholesterol acyltransferase (LCAT) deficiency. After electrophoresis on agarose gel only one single band of albumin mobility was observed in the

Impact of the preoperative body composition indexes on intraoperative blood loss in patients undergoing pancreatoduodenectomy

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Purposes: This study sought to identify any significant predictors of blood loss during pancreatoduodenectomy (PD) among preoperative variables, including the body composition indexes. Methods:

Correlation of mammographic density and serum calcium levels in patients with primary breast cancer.
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Percentage mammographic breast density (PMD) is one of the most important risk factors for breast cancer (BC). Calcium, vitamin D, bisphosphonates, and denosumab have been considered and partly confirmed as factors potentially influencing the risk of BC. This retrospective observational study

[RI angiocardiography of idiopathic cardiomyopathy (author's transl)].
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This study was aimed to evaluate the noninvasive method of radioisotopic angiocardiography for detecting a disproportionate thickning of the interventricular septum relative to the left ventricular free wall in the patient with idiopathic hypertrophic cardiomyopathy. The experimental study was

[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
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OBJECTIVE The authors sought to investigate the clinical features and characteristics of genetic mutation in patients with aspartylglucosaminuria. METHODS Clinical data of two pediatric siblings in a family were analyzed retrospectively and relative literature was reviewed in order to study the

Higher mortality of patients on haemodialysis with pancreatic diabetes compared to type 2-diabetes.
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In rare cases (1-8%) diabetic patients with end-stage renal disease (ESRD) suffer from diabetic nephropathy (dNP) due to pancreatic diabetes mellitus (PDM). Aim of this study was to investigate differences in the outcome of patients with PDM and those with type 2 diabetes.In a retrospective study we

Menetrier disease and Cytomegalovirus infection in paediatric age: report of three cases and a review of the literature
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Paediatric Menetrier disease (PMD) is a protein-losing gastropathy, presenting with generalized oedema and abdominal symptoms. PMD commonly has an acute course and may be associated with Cytomegalovirus (CMV) infection. The aim of this retrospective study is to assess the epidemiological and

Tissue culture model of Krabbe's disease: psychosine cytotoxicity in rat oligodendrocyte culture.
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Krabbe's disease (globoid cell leukodystrophy) is a progressive cerebral degenerative disease of infancy characterized by severe myelin loss and the presence of globoid bodies in the white matter. Previous studies have suggested that psychosine is the causative agent for the pathogenesis of Krabbe's

Hypoalbuminemia as a marker of protein metabolism disarrangement in patients with stable chronic heart failure.
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Despite therapeutic advances, chronic heart failure (CHF)-related mortality and hospitalization is still unacceptable high. Evidence shows that muscular wasting, sarcopenia, cachexia are independent predictors of mortality and morbidity in CHF and are signs of protein metabolism

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