Search results for " Storage"

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…

2006

Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…

Comment: Why are females with Fabry disease affected?

2019

Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early‐Onset Parkinsonism

2021

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3×3 Technique for RGB Snapshot Mapping of Skin Chromophores

2015

Three monochromatic spectral images have been extracted from a single RGB image data set at simultaneous illumination of skin by 473nm, 532nm and 609nm spectral lines. They were further transformed into distribution maps of three skin chromophores - melanin, oxy-hemoglobin and deoxy-hemoglobin, related to pigmented and vascular skin malformations. Performance and clinical potential of the proposed 3×3 technique is discussed.

Gadolinium accumulation after contrast-enhanced magnetic resonance imaging: Which implications in patients with Crohn's disease?

2017

Crohn's disease (CD) is a chronic inflammatory condition of the bowel, characterized by an alternation of remission and relapse phases, leading to a progressive intestinal damage with loss of function. Magnetic resonance enterography has been widely used in the past for the evaluation of fistulizing disease, but its use increased over time, being considered helpful in different moments of disease course. Intravenous injection of Gadolinium-based contrast agents has been demonstrated to be crucial to assess mucosal inflammation, transmural involvement, and extraintestinal disease. Recently, Gadolinium accumulation in human tissues has been increasingly reported, although clinical implication…

Clinical and ultrastructural findings in three patients with geleophysic dysplasia

1996

Geleophysic dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a “happy-looking” facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided add…

G.P.232

2014

Spinal muscular atrophy (SMA) and Pompe disease (PD) are common neuromuscular disorders during childhood causing progressive weakness of proximal muscles with gait disturbances, loss of ambulation and breathing difficulties. Whereas SMA is the result of a neurogenic atrophy caused by mutations in the SMN1 gene, PD is a lysosomal glycogen storage disease (type II) due to mutations of the GAA gene responsible for the enzyme activity of acid alpha-1,4-glucosidase. PD is treatable by enzyme replacement therapy, but in SMA there is no established curable therapy. We report on a child with genetically proven SMA type III and PD caused by mutations in the SMN1 and GAA genes. A 3 years old girl pre…

The addition of simvastatin administration to cold storage solution of explanted whole liver grafts for facing ischemia/reperfusion injury in an area…

2018

Abstract Background Liver transplantation is the best treatment for end-stage liver disease. The interruption of the blood supply to the donor liver during cold storage damages the liver, affecting how well the liver will function after transplant. The drug Simvastatin may help to protect donor livers against this damage and improve outcomes for transplant recipients. The aim of this study is to evaluate the benefits of treating the donor liver with Simvastatin compared with the standard transplant procedure. Patient and methods We propose a prospective, double-blinded, randomized phase 2 study of 2 parallel groups of eligible adult patients. We will compare 3-month, 6-month, and 12-month g…

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possi…

2009

Pompe disease is a rare, autosomal-recessive disorder which results from a defect in the lysosomal enzyme acid alpha-glucosidase (GAA). The onset of this disease is highly variable, with infantile types being the most severe. Traditionally, lymphocytes, fibroblasts or muscle biopsies were necessary for enzyme activity measurement, because these materials do not express maltase-glucoamylase (MGA) that interferes with the assay. Recently, acarbose was found to inhibit MGA activity selectively, so that dried blood became accessible for GAA assessment.To evaluate the diagnostic efficacy of GAA measurement in dried blood specimens (DBSs) in comparison with lymphocytes. If DBSs provided reliable …

Smartphone single-snapshot mapping of skin chromophores

2016

Suitability of smartphone for single-snapshot mapping of skin melanin, oxy-hemoglobin and deoxy-hemoglobin under 3-wavelengths illumination was demonstrated. Simultaneous 448-532-659 nm illumination was provided by a portable laser-based prototype.