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Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and

In this review we explore the similarities between spinocerebellar ataxias and dystonias, and suggest potentially shared molecular pathways using a gene co-expression network approach. The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. The dystonias are another group of neurological movement diso

Background: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges, benefits and pitfalls associated with screening for ultra-rare inborn errors of metabolism (IEMs). A comprehensive, non-sys

Background: The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes. Objectives: The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical characteristics in patients with progressive myoclonus ataxia and with isola

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a

Grouping is a widespread form of predator defence, with individuals in groups often performing evasive collective movements in response to attack by predators. Individuals in these groups use behavioural rules to coordinate their movements, with visual cues about neighbours' positions and orientations often informing movement decisions. Although the exact visual cues individuals use to coordinate

Land use is affecting 70% of global ecosystems and their functioning. Forest management is a regionally dominant land use and affects forest ecosystems by changing both structure and functioning, but its impact on primary productivity is not well known. Here we investigated the effect of forest management on primary productivity by comparing managed secondary forests with relatively pristine unman

The present study recorded 36 genera and 115 species of the lichen family Teloschistaceae in India. Three species, i.e. Caloplaca rajasthanica S. Y. Kondr., Upreti et G. P. Sinha, Huriella upretiana S. Y. Kondr., G. K. Mishra, Nayaka et A. Thell, and Squamulea uttarkashiana S. Y. Kondr., Upreti, Nayaka et A. Thell, are described as new species. Seven new combinations, i.e. Fulgogasparrea awasthii

The present study looked at the extent to which 2-year-old children benefited from information conveyed by viewing a hiding event through an opening in a cardboard screen, seeing it as live video, as pre-recorded video, or by way of a mirror. Being encouraged to find the hidden object by selecting one out of two cups, the children successfully picked the baited cup significantly more often when th

The isoxazol leflunomide (N-(4-trifluoromethylphenyl)-5-methylisoxazol-4-carboxamide) and its active metabolite A77-1726 (N-(4-trifluoromethyl)-phenyl-2-cyano-3-hydroxy-crotonic acidamide) are promising disease-modifying antirheumatic drugs now in clinical trials. The malononitrilamides MNA279 (2-cyano-3-cyclopropyl-3-oxo-(4-cyanophenyl)propionamide) MNA715(N-(4-trifluoromethyl)-phenyl-2-cyano-3-h

Fast kicker systems are required for the proposed upgrade of ALS to a diffraction-limited light source (ALS-U). The main approach is to have multiple stripline kicker magnets driven by inductive adders. The design details of the kicker structures and the inductive adder options will be discussed.

Fluid therapy is the most important component involved in the stabilization of postrenal azotemia, however there is not yet a consensus about the ideal rate of fluid therapy after relief of urethral obstruction. Fifteen adult cats were divided in two groups: High Rate Group (HRG) and Low Rate Group (LRG). At predetermined time points was assessed venous blood pH, pCO2, pO2, bicarbonate concentrati

Background: The FreeStyle Libre glucose sensor has caused many cases of allergic contact dermatitis, and isobornyl acrylate (IBOA) in this sensor has been identified as one of the culprit allergens. Objectives: To report on the presence of IBOA in devices produced by Medtronic, namely, Enlite sensor and insulin infusion set Paradigm MiniMed Quick-set. Patients and Methods: Five patients reacting t

Brain structure and function are tightly correlated across all animals. While these relations are ultimately manifestations of differently wired neurons, many changes in neural circuit architecture lead to larger-scale alterations visible already at the level of brain regions. Locating such differences has served as a beacon for identifying brain areas that are strongly associated with the ecologi

Polyamines are cationic molecules synthesized via a highly regulated pathway, obtained from the diet or produced by the gut microbiota. They are involved in general molecular and cellular phenomena that play a role also in vascular disease. Bicuspid aortic valve (BAV) is a congenital malformation associated to a greater risk of thoracic ascending aorta (TAA) aneurysm, whose pathogenesis is not yet

The subject of this dissertation is the regulation of banks. The enquiry is built around three overreaching research questions:1. What is a bank?2. Why do banks have to be regulated?3. How should banks be regulated? Each of these three questions is dedicated a separate and comprehensive section, each consisting of several chapters. Even though the subject is jurisprudence, the perspective of the

Measurement of the burning velocity of unstretched laminar hydrogen/air premixed flames suffers from large uncertainties owing to the highly diffusive nature of hydrogen that can give rise to flame instability. This paper reports on a numerical study of the structures and stability of laminar premixed CH4/O2/CO2 flames and H2/O2/N2 flames anchored to a heat-flux burner using a high-order numerical

OBJECTIVE: To describe the epidemiology of illness at the Rio 2016 Summer Paralympic Games.METHODS: A total of 3657 athletes from 78 countries, representing 83.5% of all athletes at the Games, were monitored on the web-based injury and illness surveillance system (WEB-IISS) over 51 198 athlete days during the Rio 2016 Summer Paralympic Games. Illness data were obtained daily from teams with their