Search results for "NBO"

Two-year-old girl with tuberous xanthomas.

2018

A 2-year-old girl was referred for evaluation because she had two nodular lesions located on both heels, and another elongated lesion in the intergluteal cleft. On physical examination, two yellow to orange well-defined nodules, suggestive of xanthomas, were bilaterally located on the Achilles tendon areas (figure 1A). Moreover, another yellowish, slightly raised lesion with band-like morphology was seen in the intergluteal cleft (figure 1B). There were no other anomalies on physical examination. Figure 1 (A) Tuberous xanthoma located on the left heel. (B) Planar xanthoma located in the intergluteal cleft. (C) Peripheral blood smear examination showing numerous red cells and two macrothromb…

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

Contrasting coping styles meet the wall: A dopamine driven dichotomy in behavior and cognition

2017

Individual variation in the ability to modify previously learned behaviour is an important dimension of trait correlations referred to as coping styles, behavioral syndromes or personality. These trait clusters have been shaped by natural selection, and underlying control mechanisms are often conserved throughout vertebrate evolution. In teleost fishes, behavioral flexibility and coping style have been studied in the high (HR) and low-responsive (LR) rainbow trout lines. Generally, proactive LR trout show a behaviour guided by previously learned routines, while HR trout show a more flexible behaviour relying on environmental cues. In mammals, routine dependent vs flexible behavior has been …

Frames and weak frames for unbounded operators

2020

In 2012 G\u{a}vru\c{t}a introduced the notions of $K$-frame and of atomic system for a linear bounded operator $K$ in a Hilbert space $\mathcal{H}$, in order to decompose its range $\mathcal{R}(K)$ with a frame-like expansion. In this article we revisit these concepts for an unbounded and densely defined operator $A:\mathcal{D}(A)\to\mathcal{H}$ in two different ways. In one case we consider a non-Bessel sequence where the coefficient sequence depends continuously on $f\in\mathcal{D}(A)$ with respect to the norm of $\mathcal{H}$. In the other case we consider a Bessel sequence and the coefficient sequence depends continuously on $f\in\mathcal{D}(A)$ with respect to the graph norm of $A$.

Structure of locally convex quasi C * -algebras

2008

There are examples of C*-algebras A that accept a locally convex *-topology τ coarser than the given one, such that Ã[τ] (the completion of A with respect to τ) is a GB*-algebra. The multiplication of A[τ] may be or not be jointly continuous. In the second case, Ã[*] may fail being a locally convex *-algebra, but it is a partial *-algebra. In both cases the structure and the representation theory of Ã[τ] are investigated. If Ã+ τ denotes the τ-closure of the positive cone A+ of the given C*-algebra A, then the property Ā+ τ ∩ (-Ā+ τ) = {0} is decisive for the existence of certain faithful *-representations of the corresponding *-algebra Ã[τ]

El bienestar del menor por nacer: ¿un interés a ponderar en el acceso a las técnicas de reproducción asistida?

2020

La necesidad de aproximar las legislaciones de los distintos Estados europeos en el ámbito de la reproducción asistida, para evitar el llamado “turismo reproductivo”; así como la conveniencia de realizar una valoración previa de las personas que solicitan ser receptoras de estas técnicas con fines reproductivos, en orden a acercar las distintas formas de filiación, hace que nos planteemos en el presente trabajo la introducción del “bienestar del menor por nacer” como un “interés” más a ponderar para acceder a las técnicas de reproducción asistida. The need to approximate the legislation of the different European States in the field of assisted reproduction, in order to prevent the so-called…

Comparative column chromatographic estimations of phenylalanine in plasma, whole blood, native and paper-dried capillary blood of healthy children an…

1984

The concentration of phenylalanine in plasma, whole venous and capillary blood, and paper-dried blood of 75 probands (25 healthy adults, 27 healthy children, and 23 patients with hyperphenylalaninaemia) were measured by use of a sensitive short column chromatography method. The comparison of the values in each group of probands by several statistic methods showed an excellent correlation of the phenylalanine concentration in paper-dried whole blood to those measured in venous plasma. Evaluation of the analytical method revealed a high sensitivity and accuracy by use of a sample volume of 50 microliter. We would therefore suggest that the estimation of phenylalanine for the diagnosis and the…

Bowel Dilation Diagnosed Prenatally.

2017

Functional characterization of hepatocytes for cell transplantation: customized cell preparation for each receptor.

2009

The first indication of hepatocyte transplantation is inborn liver-based metabolic disorders. Among these, urea cycle disorders leading to the impairment to detoxify ammonia and Crigler-Najjar Syndrome type I, a deficiency in the hepatic UDP-glucuronosyltransferase 1A1 present the highest incidence. Metabolically qualified human hepatocytes are required for clinical infusion. We proposed fast and sensitive procedures to determine their suitability for transplantation. For this purpose, viability, attachment efficiency, and metabolic functionality (ureogenic capability, cytochrome P450, and phase II activities) are assayed prior to clinical cell infusion to determine the quality of hepatocyt…

In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages

2010

Abstract Background In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Alveolar Proteinosis (PAP), in which alveolar spaces are filled with lipoproteinaceous material because of the impaired surfactant clearance by resident macrophages. The pathogenesis of LPI-associated PAP remains still obscure. The present study investigates for the first time the expression and function of y+LAT1 in monocytes and macrophages isolated from a patient affected by LPI-associated PAP. A comparison with mesenchymal cells from the same subject has been a…