Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

Med Clin (Barc). 2006 Jun 17;127(3):81-5. [Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier] [Article in Spanish] Ormazabal A, García Cazorla A, Pérez Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández Alvarez E, Campistol J, Artuch R. Hospital Sant Joan de Déu, Esplugues, Barcelona, España. Abstract BACKGROUND AND OBJECTIVE: In the last few years, it has been described inborn errors of neurotransmitter and pterin metabolism and defects in folate and glucose transport across blood brain barrier. All these defects are classified as rare diseases and needs cerebrospinal fluid (CSF) sample analysis for diagnosis. Our aim was to evaluate the results of the application of a CSF analysis protocol in a pediatric population from Spain and Portugal presenting with neurological disorders of unknown origin. PATIENTS AND METHOD: We studied CSF samples from and 283 patients with neurological disorders of unknown origin and 127 controls. Neurotransmitters were analysed by HPLC with electrochemical detection, and pterins and 5-methyltetrahydrofolate were determined by HPLC with fluorescence detection. RESULTS: We diagnosed 3 patients with tyrosine hidroxylase deficiency, 2 with dopa responsive dystonia, 14 with GTP-ciclohydrolase deficiency, 2 with glucose transport deficiency and 43 with cerebral folate deficiency. CONCLUSIONS: This study allowed us to diagnose new patients, and more importantly, the establishment in all of them of a pharmacological or nutritional treatment. The most frequent defect found was CSF 5-methyltetrahydrofolate deficiency, which was present in different groups of patients. PMID: 16827996 [PubMed - indexed for MEDLINE

Propuesta de curva S-N de diseño para chapas de acero estructural con agujeros cortados por láser

Este artículo presenta una propuesta de curva de diseño a fatiga para chapas de acero estructural con agujeros cortados por láser. El corte por láser se encuadra, junto al oxicorte y al corte por plasma, dentro de los métodos de corte térmico. En relación con la vida en fatiga de componentes con agujeros obtenidos mediante corte térmico la práctica totalidad de las normas de diseño no cubre este tipo de detalle estructural, limitándose a proporcionar curvas de diseño para agujeros taladrados o punzonados. Por este motivo, y por el hecho de que de entre todos los métodos de corte térmico el láser proporciona las mejores tolerancias geométricas en el corte de agujeros, se presenta en este documento un programa experimental de fatiga (S-N) sobre cuatro aceros (S355M, S460M, S690Q y S890Q) con agujeros cortados por láser. Los resultados obtenidos para cada una de las 40 probetas ensayadas se han usado para determinar la correspondiente clase FAT del Eurocódigo.This paper presents a proposal of fatigue design curves for structural steel plates containing laser cut holes. Laser cutting is, together with flame cutting and plasma cutting, one of the thermal cutting technologies. Concerning the fatigue performance of thermally cut structural components, design standards do not generally provide design curves for thermally cut holes, covering just drilled or punched holes. For this reason, and also because among the thermal cutting methods it is laser cutting the one providing the best geometric tolerances, this document presents a fatigue experimental program (S-N) with four steels (S355M, S460M, S690Q y S890Q) presenting laser cut holes. The obtained results in the 40 tested specimens have been used to derive the corresponding Eurocode FAT class.Los autores de este trabajo desean agradecer a la Comisión Europea la financiación del proyecto HIPERCUT: “High Performance Cut Edges in Structural Steel Plates for Demanding Aplications” (RFSR-CT-2012-00027), de cuyos resultados se deriva este artículo

Food loss and waste metrics: a proposed nutritional cost footprint linking linear programming and life cycle assessment

Purpose: The main purpose of this article is to assess the nutritional and economic efficiency of food loss and waste (FLW) along the supply of 13 food categories included in the Spanish food basket by means of the definition of a new method which combines two indexes. Methods: The nutrient-rich foods index and the economic food loss and waste (EFLW) index were combined by means of linear programming to obtain the nutritional cost footprint (NCF) indicator under a life cycle perspective. The functional unit used was the daily supply of food for a Spanish citizen in year 2015. Results and discussion: Results showed that vegetables and cereals were the food categories most affected by the inefficiencies in the food supply chain under a nutritional perspective, being agricultural production and household consumption the main stages in which the nutritional content of food is lost or wasted. Moreover, according to the NCF index, vegetables represented 27% of total nutritional-economic wastage throughout the entire Spanish agri-food chain. They are followed by fruits, which add up to 19%. Hence, specific food waste management strategies should be established for these specific products and supply stages. Finally, the sensitivity analysis performed highlighted that results were mostly independent from the importance attributed to either nutritional or economic variables. Conclusions: The methodology described in this study proposes an indicator quantifying the nutritional-economic cost of different food categories in the Spanish food basket. This NCF indicator makes it possible to define reduction strategies to promote the use of food waste fractions for waste-to-energy valorization approaches or the extraction of different types of pharmacological, chemical, or cosmetic compounds.The authors are grateful for the funding of the Spanish Ministry of Economy and Competitiveness through the Ceres-Procom: Food production and consumption strategies for climate change mitigation (CTM2016-76176-C2-1-R) (AEI/FEDER, UE)

Gut microbiota composition and arterial stiffness measured by pulse wave velocity: Case-control study protocol (MIVAS study)

[Introduction]: Intestinal microbiota is arising as a new element in the physiopathology of cardiovascular diseases. A healthy microbiota includes a balanced representation of bacteria with health promotion functions (symbiotes). The aim of this study is to analyse the relationship between intestinal microbiota composition and arterial stiffness. [Methods and analysis]: An observational case—control study will be developed. Cases will be defined by the presence of at least one of the following: carotid-femoral pulse wave velocity (cf-PWV), Cardio-Ankle Vascular Index (CAVI), brachial ankle pulse wave velocity (ba or ba-PWV) above the 90th percentile, for age and sex, of the reference population. Controls will be selected from the same population as cases. The study will be developed in Primary Healthcare Centres. We will select 500 subjects (250 cases and 250 controls), between 45 and 74 years of age. Cases will be selected from a database that combines data from EVA study (Spain) and Guimarães/Vizela study (Portugal). Measurements: cf-PWV will be measured using the SphygmoCor system, CAVI, ba-PWV and Ankle-Brachial Index will be determined using VaSera device. Gut microbiome composition in faecal samples will be determined by 16S ribosomal RNA sequencing. Lifestyle will be assessed by food frequency questionnaire, adherence to the Mediterranean diet and IPAQ (International Physical Activity Questionnaire). Body composition will be evaluated by bioimpedance. [Ethics and dissemination]: The study has been approved by ‘Committee of ethics of research with medicines of the health area of Salamanca’ on 14 December 2018 (cod. 2018-11-136) and the ’Ethics committee for health of Guimaraes’ (Portugal) on 15 October 2019 (ref: 67/2019).All study participants will sign an informed consent form agreeing to participate in the study, in compliance with the Declaration of Helsinki and the WHO standards for observational studies. The results of this study will allow a better description of gut microbiota in patients with arterial stiffness.The project has been funded by the Carlos III Health Institute (Spain) through the Network of preventive activities and health promotion (redIAPP, RD16/0007), co-financed with European funds for regional development (FEDER) and the Autonomous Government of Castilla y León (GRS 1820/B/18; GRS 1944/B/19 and intensification programme)

A Measurement of B Meson Production and Lifetime Using D`− Events in Z0 Decays

A study of B meson decays into D l- X final states is presented. In these events, neutral and charged D mesons originate predominantly from B+ and B0 decays, respectively. The dilution of this correlation due to D** production has been taken into account. From 263700 hadronic Z0 decays collected in 1991 with the DELPHI detector at the LEP collider, 92 D0 --> K- pi+, 35 D+ --> K- pi+ pi+ and 61 D*+ --> D0 pi+ followed by D0 --> K- pi+ or D0 --> K- pi+ pi+ pi-, are found with an associated lepton of the same charge as the kaon. From the D0 l- and D*+ l-, the probability f(d) that a b quark hadronizes into a B- (or B0BAR),meson is found to be 0.44 +/-0.08 +/-0.09, corresponding to a total (B(s) + LAMBDA(b)) hadronization fraction of 0.12(-0.12)+0.24 .By reconstructing the energy of each B meson, the b quark fragmentation is directly measured for the first time. The mean value of the B meson energy fraction is: [X(E)(B)] = 0.695+/-0.015(stat.)+/-0.029(syst.) Reconstructing D-lepton vertices, the following B life-times are measured: tau(B) = 1.27(-0.18)+0.22(stat.)+/-0.15(syst.) ps, where bBAR --> D0 l- X, tau(B) = 1.18(-0.27)+0.39(stat.)+/-0.15(syst.) ps, where BBAR --> D+ l- X, T(B) = 1.19(-0.19)+0.25(stat.)+/-0.15(syst.) ps where BBAR --> D*+ l- X, and an average tau(B) = 1.23(-0.13)+0.14(stat.)+/-0.15(syst.) ps is found. Allowing for decays into D** l- vBAR, the B+ and B0 lifetimes are: tau(B+)= 1.30(0.29)+0.33(stat.)+/-0.15(syst. exp.) +/-0.05(syst. D**) ps, tau(B0)= 1.17(-0.23)+0.29(stat.)+/-0.15(syst. exp.) +/-0.05 (syst. D**) ps, tau(B+)/tau(B0) = 1.11(0.39)+0.51(stat.)+/-0.05(syst. exp.) +/-0.10(syst. D**) ps

Measurement of the triple-gluon vertex from 4-JET events at LEP

From the combined data of 1990 and 1991 of the DELPHI experiment at LEP, 13057 4-jet events are obtained and used for determining the contribution of the triple-gluon vertex. The relevant variables are the generalized Nachtmann Reiter angle theta(NR)* and the opening angle of the two least energetic jets. A fit to their two-dimensional distribution yields C(A)/C(F)=2.12+/-0.35 and N(C)/N(A)=0.46+/-0.19, where C(A)/C(F) is the ratio of the coupling strength of the triple-gluon vertex to that of gluon bremsstrahlung from quarks, and N(C)/N(A), the ratio of the number of quark colours to the number of gluons. This constitutes a convincing model-independent proof of the existence of the triple-gluon vertex, since its contribution is directly proportional to C(A)/C(F). The results are in agreement with the values expected from QCD: C(A)/C(F)=2.25, and N(C)/N(A)=3/8

Automatic imagine analyzer to assess retinal vessel caliber (Altair) tool validation for the analysis of retinal vessels

Objective: To assess the reliability and validity of the tool Automatic image analyzer to assess retinal vessel caliber (ALTAIR) to analyze the vascularization of the retina and cardiovascular risk prediction. Design and method: Cross-sectional of tools validation study. We included 250 subjects in total, aged 62 +/- 9 years, 51% males. We have made a validation of reliability analyzing the intraclass correlation (ICC) intra observer, inter observer and inter device (compared with AVindex calculator) to the thickness, area and length of arteries and veins of the retina in 3 concentric circles from the disc in 120 retinographies. The concurrent validity was performed with 250 subjects and 497 retinographies, analyzing the relationship with age, blood pressure, parameters of vascular structure and function, renal function and cardiovascular risk estimated with scales. Results: In the sample, the 32% are obese, 68% hypertensive and 17% diabetic. The interobserver ICC for thickness, area and length of veins and arteries ranged from 0.809 to length of arteries to 0.916 to veins area. The intra observer ICC for intra thickness, area and length of veins and arteries ranged from 0.640 for the length of the veins and 0.906 for the area of the arteries and the inter device ICC was for arteriovenous ratio (AVR) 0.887, thickness of arteries 0.590 and veins thickness 0.677. We found a moderate correlation of the age (r between 0.30 and 0.50, p < 0.001) with the retinal vascular parameters analyzed. In multiple linear regression analysis after adjusting for age and sex, the association of AVR and arterial thickness with the diastolic blood pressure and albumin creatinine ratio and arterial area and length with systolic arterial blood pressure and carotid intima-media thickness remains. Also the thickness area and length of the vessels show an association with cardiovascular risk estimated SCORE scale. Conclusions: The ALTAIR tool shows a good reliability in the concordance inter observers, intra observer and inter device measurements and a concordant validity to show an association with vascular parameters, target organ damage and cardiovascular risk

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders

Challenges in QCD matter physics - The Compressed Baryonic Matter experiment at FAIR

Substantial experimental and theoretical efforts worldwide are devoted to explore the phase diagram of strongly interacting matter. At LHC and top RHIC energies, QCD matter is studied at very high temperatures and nearly vanishing net-baryon densities. There is evidence that a Quark-Gluon-Plasma (QGP) was created at experiments at RHIC and LHC. The transition from the QGP back to the hadron gas is found to be a smooth cross over. For larger net-baryon densities and lower temperatures, it is expected that the QCD phase diagram exhibits a rich structure, such as a first-order phase transition between hadronic and partonic matter which terminates in a critical point, or exotic phases like quarkyonic matter. The discovery of these landmarks would be a breakthrough in our understanding of the strong interaction and is therefore in the focus of various high-energy heavy-ion research programs. The Compressed Baryonic Matter (CBM) experiment at FAIR will play a unique role in the exploration of the QCD phase diagram in the region of high net-baryon densities, because it is designed to run at unprecedented interaction rates. High-rate operation is the key prerequisite for high-precision measurements of multi-differential observables and of rare diagnostic probes which are sensitive to the dense phase of the nuclear fireball. The goal of the CBM experiment at SIS100 (sqrt(s_NN) = 2.7 - 4.9 GeV) is to discover fundamental properties of QCD matter: the phase structure at large baryon-chemical potentials (mu_B > 500 MeV), effects of chiral symmetry, and the equation-of-state at high density as it is expected to occur in the core of neutron stars. In this article, we review the motivation for and the physics programme of CBM, including activities before the start of data taking in 2022, in the context of the worldwide efforts to explore high-density QCD matter.Comment: 15 pages, 11 figures. Published in European Physical Journal

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport or degradation of neurotransmitters or co-factors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter (DAT) deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders, and b) previously underreported behavioral traits