Search results for "NBO"
showing 10 items of 266 documents
Weak commutation relations of unbounded operators and applications
2011
Four possible definitions of the commutation relation $[S,T]=\Id$ of two closable unbounded operators $S,T$ are compared. The {\em weak} sense of this commutator is given in terms of the inner product of the Hilbert space $\H$ where the operators act. Some consequences on the existence of eigenvectors of two number-like operators are derived and the partial O*-algebra generated by $S,T$ is studied. Some applications are also considered.
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
2015
Summary Background Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. Methods In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous…
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle
2015
12 páginas, 4 figuras, 2 tablas.
Occurrence of Yersinia ruckeri infection in farmed whitefish, Coregonus peled Gmelin and Coregonus muksun Pallas, and Atlantic salmon, Salmo salar L.…
1986
Yersinia ruckeri, the aetiological agent of enteric redmouth disease (ERM), is now generally recognized to be distributed worldwide. The pathology and epizootiology of the disease was first described by Rucker (1966) and although rainbow trout, Salmo gairdneri Richardson, has been the most frequently affected species, all salmonids are now considered to be potential hosts for the organism (McDaniel 1979). The present paper reports the first confirmed occurrence of Y. ruckeri infection in farmed whitefish and Atlantic salmon, Salmo salar L., in Finland, with the known host range being extended to include the whitefish Coregonus peled Gmelin and Coregonus muksun Pallas . The outbreaks of infe…
Cruise tourists on the mainland. Itineraries and interactions.
2017
This study is based on fieldwork conducted using participant observation – including both direct observation of/participation in the activities of informers by the researcher, several interviews, and the analysis of pictures and various material – accomplished aboard some cruises (in the Mediterranean Sea) and on the mainland (in some of the destinations). It takes into account the case of cruise passengers who decide to self-manage a destination visit. During fieldwork, I could study some particular forms of interaction taking place on two different levels: the forms of interaction established between passengers and destinations – focusing particularly on Palermo, Italy – and the system of…
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
2020
We previously observed an unexpected fivefold (35 vs. 200 days) difference in the survival of respiratory chain complex III (CIII) deficient Bcs1lp.S78G mice between two congenic backgrounds. Here, we identify a spontaneous homoplasmic mtDNA variant (m.G14904A, mt-Cybp.D254N), affecting the CIII subunit cytochrome b (MT-CYB), in the background with short survival. We utilize maternal inheritance of mtDNA to confirm this as the causative variant and show that it further decreases the low CIII activity in Bcs1lp.S78G tissues to below survival threshold by 35 days of age. Molecular dynamics simulations predict D254N to restrict the flexibility of MT-CYB ef loop, potentially affecting RISP dyna…
BioTIME: A database of biodiversity time series for the Anthropocene
2018
Abstract Motivation The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene. Main types of variables included The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive. In addition, th…
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
2019
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities. Aim: The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify ‘at-risk’ patients who may benefit from diagnostic testing. Methods: An anonymous, three-round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managin…
Extracerebral biopsies in neurodegenerative diseases of childhood
1999
Abstract Among the numerous neurodegenerative diseases in children few may allow morphological diagnosis by extracerebral biopsy. These encompass neurometabolic conditions, foremost lysosomal disorders, but also peroxisomal and mitochondrial diseases marked by disease- or group-specific organelles. Largely, these neurometabolic conditions can also be diagnosed by biochemical and increasingly by molecular genetic techniques. However, there are a few neurodegenerative diseases which do not allow either biochemical or molecular genetic diagnosis and, thus, rely on biopsy of extracerebral tissues, so-called ‘essential’ biopsies to achieve a diagnosis during the patient's life. Among these few d…
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
2016
Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…