Search results for "NBO"
showing 10 items of 266 documents
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malfor…
2021
Abstract Background Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of c…
Intraepidermal morphologic manifestations in lysosomal diseases.
1989
This paper reports the ultrastructural findings for the epidermis of biopsied skin specimens in numerous lysosomal diseases, which can be grouped as follows: a) presence of vacuolar lysosomal residual bodies in mucopolysaccharidoses I, II and III, Salla disease, GM 2 -gangliosidoses and infantile type II glycogenosis; b) avacuolar lysosomal residual bodies in Niemann-Pick disease type C, mucolipidosis IV, Farber disease, Fabry disease, and late infantile and juvenile neuronal ceroid-lipofuscinoses; c) absence of lysosomal residual bodies in GM 2 -gangliosidoses, metachromatic leukodystrophy, Gaucher disease and sialidosis type III Whenever possible, a biopsy of the skin for morphological di…
Synthesis, X-ray structure, Hirshfeld analysis, and DFT studies of a new Pd(II) complex with an anionic s-triazine NNO donor ligand
2020
A new Pd(II) complex, [Pd(Triaz)Cl], with the hydrazono-s-triazine ligand, 2,4-di-tert-butyl-6-((2-(4-morpholino-6-(phenylamino)-1,3,5-triazin-2-yl)hydrazono)methyl)phenol, was synthesized by the reaction of PdCl2 with the organic ligand (1:1) in acetone under isothermal conditions. The molecular structure of the [Pd(Triaz)Cl] complex was determined using FTIR and 1H NMR spectroscopic techniques, and single-crystal X-ray diffraction. Moreover, using Hirshfeld surface analysis, the percentages of the intermolecular interactions were determined. The obtained values were 60.6%, 11.6%, 8.1%, 3.6%, and 5.0% for the H⋯H, C⋯H, O⋯H, N⋯H, and Cl⋯H interactions, respectively. Among them, the O⋯H, C⋯H…
Occurrence and pathogenicity of Yersinia ruckeri at fish farms in northern and central Finland
1992
. Salmonid fish at fish farms in northern and central Finland and perch, Perca fluviatilis L., roach, Rutilus rutilus (L.), and whitefish, Coregonus sp., from four lakes in central Finland were studied between 1985 and 1990 for the occurrence of Yersinia ruckeri. The bacteria were found in fish from both areas, but in most cases, only single diseased salmon, Salmo salar L., brown trout, S. trutta L., rainbow trout, Oncorhynchus mykiss (Walbaum), whitefish and perch were encountered and were always connected with stress conditions. One clinical outbreak occured in salmon fingerlings in northern Finland, and the fish were successfully treated with trimethoprim-sulpha. Monthly monitoring of la…
Temperature effects on anaesthesia with clove oil in six temperate-zone fishes
2004
The potential use of clove oil (eugenol) as an anaesthetic for Atlantic salmon Salmo salar, brown trout Salmo trutta, rainbow trout Oncohynchus mykiss, whitefish Coregonus lavaretus, perch Perca fluviatilis and roach Rutilus rutilus was examined at 5, 10, 15 and 20°C using three anaesthetic concentrations (varying from 20 to 200 mg l -1 ) at each temperature. Substantial species differences in sensitivity to clove oil were observed, even amongst congeners, and there may be some disadvantages (slow recovery and possibly mortality) with using clove oil for 0+ year whitefish and at low temperatures for perch and roach.
Study of the structure of the Hoyle state by refractive α-scattering
2014
α + 12C elastic and inelastic to the Hoyle state (0+ 2, 7.65 MeV) differential cross-sections were measured at the energies 60 and 65 MeV with the aim of testing the microscopic wave function [1] widely used in modern structure calculations of 12C. Deep rainbow (Airy) minima were observed in all four curves. The minima in the inelastic angular distributions are shifted to the larger angles relatively those in the elastic ones, which testify the radius enhancement of the Hoyle state. In general, the DWBA calculations failed to reproduce the details of the cross sections in the region of the rainbow minima in the inelastic scattering data. However, by using the phenomenological density with r…
Coordination polymers undergoing spin crossover and reversible ligand exchange in the solid
2006
Here we report the synthesis and characterisation of a polymer made up of a system of parallel 2-D grids of Fe(II) ions linked by [Au(CN)2]– bridges and its transformation into a new system of three interpenetrated 3-D coordination open frameworks with the NbO topology. Reversibility of this crystal-to-crystal transformation is evidenced by X-ray crystallographic data and from their spin crossover properties. Real Cabezos, Jose Antonio, Jose.A.Real@uv.es
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
2006
New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevat…
Response of rainbow trout transcriptome to model chemical contaminants.
2004
We used high-density cDNA microarray in studies of responses of rainbow trout fry at sublethal ranges of beta-naphthoflavone, cadmium, carbon tetrachloride, and pyrene. The differentially expressed genes were grouped by the functional categories of Gene Ontology. Significantly different response to the studied compounds was shown by a number of classes, such as cell cycle, apoptosis, signal transduction, oxidative stress, subcellular and extracellular structures, protein biosynthesis, and modification. Cluster analysis separated responses to the contaminants at low and medium doses, whereas at high levels the adaptive reactions were masked with general unspecific response to toxicity. We fo…
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN
2022
Primary ciliary dyskinesia; Rare genetic disorder; Lung diseases Discinesia ciliar primaria; Trastorno genético raro; Enfermedades pulmonares Discinesia ciliar primària; Trastorn genètic rar; Malalties pulmonars Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facili…