Search results for "orage"

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.

Long-term enzyme-replacement therapy (ERT) with alglucosidase alfa: Evolution of two siblings with juvenile late-onset Pompe disease

2015

Recombinant FVIII Products (Turoctocog Alfa and Turoctocog Alfa Pegol) Stable Up to 40°C

2021

Mariasanta Napolitano,1 Arne Agerlin Olsen,2 Anne Mette Nøhr,2 Hermann Eichler3 1Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo Reference Regional Center for Thrombosis and Hemostasis, Hematology Unit, Palermo, Italy; 2Novo Nordisk A/S, Biopharm Manufacturing Development, Gentofte, Denmark; 3Saarland University and Saarland University Hospital, Institute of Clinical Haemostaseology and Transfusion Medicine, Homburg (Saar), GermanyCorrespondence: Anne Mette NøhrBiopharm Manufacturing Development, Novo Nordisk A/S, Nybrovej 80, Gentofte 2820, DenmarkTel +45 3075 1619Email amnq@novonordisk.…

Snapshot Spectral Imaging

2018

This chapter describes an application of the spline-based wavelet frames to the spectral imaging. It presents a method that enables to convert a regular digital camera into a snapshot spectral imager by equipping the camera with a dispersive diffuser and with a compressed sensing-based algorithm for digital processing. The method relies on the assumption that typical images can be sparsely represented in the frame domain. The solution is found from the constrained \(l_{1}\) minimization of a functional by Bregman iterations. Results of optical experiments are reported. The chapter is based on the paper (Golub et al., Appl. Opt. 55, 432–443, (2016), [11]).

Patient preferences in the treatment of hemophilia A: impact of storage conditions on product choice

2018

Bernd Tischer,1 Renato Marino,2 Mariasanta Napolitano3 1Kantar Health, Munich, Germany; 2Haemophilia and Thrombosis Centre, University Hospital of Bari, Apulia, Italy; 3University of Palermo, Reference Regional Center for Thrombosis and Hemostasis Hematology Unit, Palermo, Italy Objectives: To gain insights into the usage of factor VIII (FVIII) products by patients diagnosed with moderate/severe hemophilia A, and to assess the impact and perceived importance of product storage.Methods: In this study, 200 patients diagnosed with moderate or severe hemophilia A across seven countries participated. Data were collected via a 30-minute, face-to-face interview in six countries and via a web-based…

Instability of misoprostol tablets stored outside the blister: a potential serious concern for clinical outcome in medical abortion.

2014

IntroductionMisoprostol (Cytotec) is recognised to be effective for many gynaecological indications including termination of pregnancy, management of miscarriage and postpartum haemorrhage. Although not licensed for such indications, it has been used for these purposes by millions of women throughout the world. Misoprostol tablets are most often packaged as multiple tablets within an aluminium strip, each within an individual alveolus. When an alveolus is opened, tablets will be exposed to atmospheric conditions.ObjectiveTo compare the pharmaco technical characteristics (weight, friability), water content, misoprostol content and decomposition product content (type A misoprostol, type B mis…