Search results for "ATAL"

Lonoctocog alfa (rVIII-SingleChain) for the treatment of haemophilia A

2017

Introduction: The administration of factor VIII (FVIII) concentrates on-demand or on long-term prophylaxis is the effective and safe standard of care of patients with hemophilia A (HA). Development of neutralizing antibodies against exogenous FVIII and the short half-life of the current available products remain major challenges. There is currently a great interest towards newer FVIII products with the goal of reducing the inhibitor risk and increasing the half-life. Area covered: In this review, the authors describe the efficacy and safety of rVIII-SingleChain (Lonoctocog alfa), the first and only single chain recombinant FVIII (rFVIII) molecule developed for the prevention and treatment o…

Audiological Findings in Children With Mucopolysaccharidoses Type I–IV

2017

Abstract Objective The aim of our study is to reflect hearing impairment of 23 children diagnosed with mucopolysaccharidosis (MPS) type I, II, III and IV. Methods Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23 children diagnosed with MPS type I, II, III and IV followed at a Tertiary Referral Hospital between 1997 and 2015. Results Six cases of MPS I, 8 of MPS II, 4 of MPS III and 5 of MPS IV were reviewed. 71.2% of patients had secretory otitis media (SOM) and 54% of patients had some type of hearing loss (HL). The behaviour of hearing loss was variable in each of the subgroups of MPS, finding greater involvement and variability in types…

BARDET-BIEDL SYNDROME – CASE PRESENTATION

2015

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypo-genitalism.

Pathogen safety of long-term treatments for bleeding disorders: still relevant to current practice

2013

Hemophilia defines a group of hereditary bleeding disorders: hemophilia A (deficiency of Factor VIII, FVIII), hemophilia B (deficiency of FIX), and para-hemophilia (deficiency of FV). These result from mutations in clotting factor genes. As in the large majority of bleeding disorders ([Table 1][1

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

2015

Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining n…

Random Forest Analysis: A New Approach for Classification of Beta Thalassemia

2020

In recent years, Thalassemia care providers started classifying patients as transfusion-dependent-Thalassemia (TDT) or non-transfusion-dependent-Thalassemia (NTDT) owing to the established role of transfusion therapy in defining the clinical complication profile, although this classification was also based on expert opinion and is limited by reliance on patients’current transfusion status. Starting from a vast set of variables indicating severity phenotype, through the use of both classification and clustering techniques we want to explore the presence of two (TDT vs NTDT) or more clusters, in order to approaching to a new definition for the classification of Beta-Thalassemia in Thalassemia…

Exciton and multiexciton optical properties of single InAs/GaAs site-controlled quantum dots

2013

We have studied the optical properties of InAs site-controlled quantum dots (SCQDs) grown on pre-patterned GaAs substrates. Since InAs nucleates preferentially on the lithography motifs, the location of the resulting QDs is determined by the pattern, which is fabricated by local oxidation nanolithography. Optical characterization has been performed on such SCQDs to study the fundamental and excited states. At the ground state different exciton complex transitions of about 500 μeV linewidth have been identified and the fine structure splitting of the neutral exciton has been determined (≈65 μeV). The observed electronic structure covers the demands of future quantum information technologies.…

Cyclobutane Pyrimidine Photodimerization of DNA/RNA Nucleobases in the Triplet State

2010

The photoinduced formation of cyclobutane pyrimidine dimers in the triplet excited state of the DNA/RNA pyrimidine nucleobases pairs has been studied at the CASPT2 level of theory. A stepwise mechanism through the triplet state of the homodimer is proposed for the pairs of nucleobases cytosine, thymine, and uracil involving a singlet−triplet crossing intermediary structure of biradical character representing the most favorable triplet state conformation of the nucleobases as found in the DNA environment. The efficiency of the mechanism will be modulated by two factors: the effectiveness of the triplet−triplet energy transfer process from a donor photosensitizer molecule, which relates to th…

2015

Study que Stion What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Method S This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries betwe…

In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models

2011

6 pages, 5 figures. PMID:21730182[PubMed] PMCID: PMC3141925[Available on 2012/1/19]