Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles

Background. Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy. Alpha-1- antitrypsin deficiency (AAT Deficiency) is one of the most common serious hereditary diseases in the world, but its prevalence varies markedly from one country to another. AAT Deficiency affects at least 120.5 million carriers and deficient subjects worldwide for the two most prevalent deficiency alleles PIS and PIZ. This genetic disease is known to exist in Italy and is related to a high risk for development of jaundice in infants, liver disease in children and adults, and pulmonary emphysema in adults. Methods. Studies on the genetic epidemiology of AAT Deficiency has resulted in the development of a unique database that permits a unique analysis of the geographic distribution in 14 different regions located at random from Piemonte to Sicilia. Results. The use of Hardy-Weinberg statistical analysis to evaluate the distribution of these two deficiency alleles has demonstrated striking differences in the frequencies of these two deficiency alleles in these 14 different regions with 23/84 pair wise combinations significantly different (P=0.05) for PIS, and 5/84 combinations for PIZ. Conclusions. These findings demonstrate differences that impact the standards of care and diagnosis of AAT Deficiency in Italy since the prevalence of these deficiency alleles is not uniform throughout the country

Dolomite crystal morphologies in dolocretes and lacustrine deposits from the Madrid and Almazán basins

Comunicación presentada en el IX Congreso Geológico de España, Huelva, 12-14 septiembre 2016.[ES] Este trabajo describe morfologías de cristales de dolomita, observados tanto en microscopio petrográfico como electrónico, de dolocretas y de depósitos carbonático-evaporíticos de ambientes lacustres someros, tanto del Paleógeno de la Cuenca de Almazán como del Mioceno de la Cuenca de Madrid. Se han identificado 6 morfotipos: 1) Tubos de dolomita; 2) Cilindros de dolomita vacuolar; 3) Romboedros de dolomita; 4) Cristales de dolomita esferoidal; 5) Cristales de dolomita con forma de capullo; y 6) Dolomita en mancuerna. Las morfologías dominantes en dolocretas son los romboedros, los esferoides, y las mancuernas. Por otro lado, en los depósitos lacustres la variedad de morfologías es mucho mayor, siendo las más comunes: los tubos, los cilindros de dolomita vacuolar, los esferoides y los cristales de dolomita con forma de capullo. La morfología de los cristales de dolomita puede ser un indicador de procesos bióticos o abióticos en su precipitación, aunque han de tenerse en cuenta otros indicadores para comprender la influencia de dichos procesos.[EN] This paper describes the dolomite crystal morphologies, observed under petrographic microscope and SEM, from dolocretes and carbonate-evaporitic lacustrine deposits. Samples analysed come from the Paleogene of the Almazán basin and the Miocene of the Madrid basin. Six morphotypes have been identified: 1) Dolomite tubes; 2) Vacuolar dolomite cylinders; 3) Rhombohedral dolomite crystals; 4) Spheroidal dolomite crystals; 5) Cocoon-shaped dolomite crystals; and 6) Dolomite dumbbells. Dominant morphotypes in dolocretes are: rhomboids; spheroids, and dumbbells. In lacustrine deposits the variety is higher and includes tubes, vacuolar dolomite cylinders, spheroids and cocoon-shaped dolomite crystals. Dolomite crystal morphology can be indicative of biotic or abiotic processes in dolomite precipitation, but other evidences must be taken into account to understand the influence of the mentioned processes.Este trabajo ha sido financiado por los proyectos de investigación CGL-2011-27826-CO2-02 y CGL2014- 54818-P del Ministerio de Economía y Competitividad.Peer reviewe

Global Antifungal Profile Optimization of Chlorophenyl Derivatives against Botrytis cinerea and Colletotrichum gloeosporioides

Twenty-two aromatic derivatives bearing a chlorine atom and a different chain in the para or meta position were prepared and evaluated for their in vitro antifungal activity against the phytopathogenic fungi Botrytis cinerea and Colletotrichum gloeosporioides. The results showed that maximum inhibition of the growth of these fungi was exhibited for enantiomers S and R of 1-(40-chlorophenyl)- 2-phenylethanol (3 and 4). Furthermore, their antifungal activity showed a clear structure-activity relationship (SAR) trend confirming the importance of the benzyl hydroxyl group in the inhibitory mechanism of the compounds studied. Additionally, a multiobjective optimization study of the global antifungal profile of chlorophenyl derivatives was conducted in order to establish a rational strategy for the filtering of new fungicide candidates from combinatorial libraries. The MOOPDESIRE methodology was used for this purpose providing reliable ranking models that can be used later

PI S and PI Z Alpha-1 antitrypsin deficiency worldwide. A review of existing genetic epidemiological data

Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects. Therefore, information on accurate estimates of the magnitude of alpha-1 antitrypsin deficiency in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk. Method. Genetic epidemiological studies for alpha-1 antitrypsin deficiency made by others have been used to determine the percentages and estimates of the numbers in each of the five phenotypic classes (PI MS, PI MZ, PI SS, PI SZ, and PI ZZ) of the most common deficiency alleles: PI S and PI Z in each of 69 countries worldwide and also when grouped into 13 major geographic regions. Results. Our studies have demonstrated striking differences between these estimates when comparisons were made in numeric tables, maps and figures. Conclusions. Our studies demonstrated striking differences in the prevalences of both the PIS and PIZ alleles among these 69 countries and the numbers at risk for AAT Deficiency in a given country in specific geographic regions. Data on the prevalence of the two major deficiency alleles as well as the numbers in those phenotypic classes known to be at risk for AAT Deficiency is considered critical for the identification of individuals at risk for adverse health effects associated with AAT Deficiency as well as the treatment and management of those individuals identified in a given country

Estimates of PI*S and PI*Z Alpha-1 antitrypsin deficiency alleles prevalence in the Caribbean and North, Central and South America

Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of individuals with this deficiency to both lung and liver disease as well as other several adverse health effects. Studies to develop accurate estimates of the magnitude of this genetic disorder in any given country is critical for the development of screening programs for detection, diagnosis, and treatment of those individuals and/or families at risk. In the present study, estimates of the prevalence of the two major deficiency alleles PI S and PI Z were estimated for 25 countries in the Caribbean and North, Central, and South America to supplement our previous studies on 69 countries worldwide. Method. Using data on the prevalence of the two most common deficiency alleles PI S and PIZ in the mother countries that provided the majority of immigrants to these 25 countries, as well as genetic epidemiological studies on various genetic subgroups indigenous to the Caribbean and North, Central and South America it was possible to develop new formulas to estimate the numbers in each of five phenotypic classes, namely PI MS, PI MZ, PI SS, PI SZ and PI ZZ for each country. Results. When these 25 countries were grouped into six different geographic regions, the present study demonstrated striking differences when comparisons were made in numeric tables, maps and figures. Highly significant numbers of individuals at risk for AAT Deficiency were found in both the European, Mestizo and Mulatto populations for most of the 25 countries studied in the Caribbean and North, Central and South America. Conclusions. Our studies demonstrated striking differences in the prevalence of both the PIS and PIZ alleles among these 25 countries in the Caribbean and North, Central and South America and significant numbers of individuals at risk for adverse health effects associated with AAT Deficiency in a given country. When these data are added to the results from our earlier studies on 69 countries, we now have data on AAT Deficiency in 94 of the 193 countries worldwide listed in the CIA FactBook

Effect of the relative position of the face milling tooltowards the workpiece on machined surfaceroughness and milling dynamics

In face milling one of the most important parameters of the process quality is the roughness of the machined surface. In many articles, the influence of cutting regimes on the roughness and cutting forces of face milling is considered. However, during flat face milling with the milling width B lower than the cutter's diameter D, the influence of such an important parameter as the relative position of the face mill towards the workpiece and the milling kinematics (Up or Down milling) on the cutting force components and the roughness of the machined surface has not been sufficiently studied. At the same time, the values of the cutting force components can vary significantly depending on the relative position of the face mill towards the workpiece, and thus have a different effect on the power expended on the milling process. Having studied this influence, it is possible to formulate useful recommendations for a technologist who creates a technological process using face milling operations. It is possible to choose such a relative position of the face mill and workpiece that will provide the smallest value of the surface roughness obtained by face milling. This paper shows the influence of the relative position of the face mill towards the workpiece and milling kinematics on the components of the cutting forces, the acceleration of the machine spindle in the process of face milling (considering the rotation of the mill for a full revolution), and on the surface roughness obtained by face milling. Practical recommendations on the assignment of the relative position of the face mill towards the workpiece and the milling kinematics are given95sem informaçãosem informaçã

Efectividad de las placas oclusales estabilizadoras en el manejo de la sintomatología temporomandibular

Object: determinate the effectivity of the stabilizing occlusive plates in the managing of the symptomatology tempolomandibular. Materials and method: 50 patients were selected of the clinics of post degree of the university Colombian college, 33 women and 17 men, by ages between 18 to 70 years, the plates occlusive were stabilized in agreement to the requirements of every patient especially, being used for 24 hours a day for 6 weeks, with controls for8, 21, 45 days to have been started the treatment. The painful muscular simptomatology and to articulated was felt and evaluated by the analogous visual scale of pain, the articular noise was auscultated by means of the fonendoscopy, the evaluation of the diversion and ranges of pertaining to the mandibular movement was realized by means of a milimetric rule. Results: Than muscular pain as articulate diminished significantly in 89% and 97% respectively, in the behaviour of the articulate noise type pop there was decrease of 45.63%, whereas in the crepitation type there was no variation. The ranges of the mandibular movements were increased 8.08% while the diversion in the pertaining to the mandibular movement does not present changes. Conclusion: The occlusive’s stabilizing plates were effective solving the tempolamandibular symptomatology.Objetivo: Determinar la efectividad de las placas oclusales estabilizadoras en el manejo de la sintomatología temporomandibular. Materiales y método: 50 pacientes fueron seleccionados de las clínicas de postgrado del Colegio Universitario Colombiano, 33 mujeres y 17 hombres, con edades entre 18 y 70 años, a los cuales se les diseñaron placas oclusales estabilizadas de acuerdo a los requerimientos de cada paciente en particular, usándose durante 24 horas al día por 6 semanas, con controles a los 8, 21 y 45 días de haber sido iniciado el tratamiento. La sintomatología dolorosa muscular y articular fue palpada y evaluada por medio de la Escala Visual Análoga del Dolor, el ruido articular fue auscultada por medio del fonendoscopio, la evaluación de la desviación y rangos de movimiento mandibular se realizó por medio de una regla milimetrada. Resultados: El dolor muscular y articular disminuyo significativamente en un 89% y 97% respectivamente, en el comportamiento del ruido articular tipo chasquido hubo disminución del 45.63%, mientras que en el tipo crepitación no hubo ninguna variación. Los rangos del movimiento mandibular aumentaron en un 8.08%, mientras la desviación en el movimiento mandibular no presentó cambios. Conclusión: La placa oclusal estabilizadora fue efectiva para resolver la sintomatología temporomandibular. (Duazary 2007; 1: 19 - 24

Comparative assessment of satellite- and drone-based vegetation indices to predict arthropod biomass in shrub-steppes

Arthropod biomass is a key element in ecosystem functionality and a basic food item for many species. It must be estimated through traditional costly field sampling, normally at just a few sampling points. Arthropod biomass and plant productivity should be narrowly related because a large majority of arthropods are herbivorous, and others depend on these. Quantifying plant productivity with satellite or aerial vehicle imagery is an easy and fast procedure already tested and implemented in agriculture and field ecology. However, the capability of satellite or aerial vehicle imagery for quantifying arthropod biomass and its relationship with plant productivity has been scarcely addressed. Here, we used unmanned aerial vehicle (UAV) and satellite Sentinel-2 (S2) imagery to establish a relationship between plant productivity and arthropod biomass estimated through ground-truth field sampling in shrub steppes. We UAV-sampled seven plots of 47.6–72.3 ha at a 4-cm pixel resolution, subsequently downscaling spatial resolution to 50 cm resolution. In parallel, we used S2 imagery from the same and other dates and locations at 10-m spatial resolution. We related several vegetation indices (VIs) with arthropod biomass (epigeous, coprophagous, and four functional consumer groups: predatory, detritivore, phytophagous, and diverse) estimated at 41–48 sampling stations for UAV flying plots and in 67–79 sampling stations for S2. VIs derived from UAV were consistently and positively related to all arthropod biomass groups. Three out of seven and six out of seven S2-derived VIs were positively related to epigeous and coprophagous arthropod biomass, respectively. The blue normalized difference VI (BNDVI) and enhanced normalized difference VI (ENDVI) showed consistent and positive relationships with arthropod biomass, regardless of the arthropod group or spatial resolution. Our results showed that UAV and S2-VI imagery data may be viable and cost-efficient alternatives for quantifying arthropod biomass at large scales in shrub steppes. The relationship between VI and arthropod biomass is probably habitat-dependent, so future research should address this relationship and include several habitats to validate VIs as proxies of arthropod biomassBBVA Foundation, BBVA Dron Ricoti project; European Commission, Grant/ Award Number: LIFE15-NAT-ES-000802; REMEDINAL-3 from CAM; European Comission, Grant/Award Number: LIFE20-NAT-ES-00013

Long-term augmentation therapy with Alpha-1 Antitrypsin in an MZ-AAT severe persistent asthma

A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she was under a strong antiasthmatic treatment. Given her declining health status and the significant chronic corticoid administration- related side-effects (including high reduction of muscle mass and bone density), a clinical trial with commercial intravenous AAT was proposed by the patient’s doctors, and accepted by the Spanish Ministry of Health, although it this therapy was not approved for MZ phenotypes yet. This new therapy quickly stopped lung function decline rate, dramatically reduced the number of hospital admissions of the patient, suppressed the oral administration of prednisone, reversed the corticosteroid-related health adverse effects, significantly improving her quality of life. Thus, although AAT replacement therapy is not approved nor indicated for the treatment of bronchial asthma in MZ patients, its favourable effects observed in this isolated case support the hypothesis that bronchial asthma could be due to pathogenic mechanisms related to a protease- antiprotease imbalance, what which could open new perspectives for future research on the field

Frequency of tuberculous and non-tuberculous mycobacteria in HIV infected patients from Bogota, Colombia

BACKGROUND: The prevalence of infections by Mycobacterium tuberculosis and non-tuberculous Mycobacterium species in the HIV-infected patient population in Colombia was uncertain despite some pilot studies. We determined the frequency of isolation of Mycobacterium tuberculosis and of non-tuberculous Mycobacterium species in diverse body fluids of HIV-infected patients in Bogota, Colombia. METHODS: Patients who attended the three major HIV/AIDS healthcare centres in Bogota were prospectively studied over a six month period. A total of 286 patients were enrolled, 20% of them were hospitalized at some point during the study. Sixty four percent (64%) were classified as stage C, 25% as stage B, and 11% as stage A (CDC staging system, 1993). A total of 1,622 clinical samples (mostly paired samples of blood, sputum, stool, and urine) were processed for acid-fast bacilli (AFB) stain and culture. RESULTS: Overall 43 of 1,622 cultures (2.6%) were positive for mycobacteria. Twenty-two sputum samples were positive. Four patients were diagnosed with M. tuberculosis (1.4%). All isolates of M. tuberculosis were sensitive to common anti-tuberculous drugs. M. avium was isolated in thirteen patients (4.5%), but only in three of them the cultures originated from blood. The other isolates were obtained from stool, urine or sputum samples. In three cases, direct AFB smears of blood were positive. Two patients presented simultaneously with M. tuberculosis and M. avium. CONCLUSIONS: Non-tuberculous Mycobacterium infections are frequent in HIV infected patients in Bogota. The diagnostic sensitivity for infection with tuberculous and non-tuberculous mycobacteria can be increased when diverse body fluids are processed from each patient