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Search Results: 1 - 10 of 11302 matches for " Sergio; Herrero "
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Detección de un caso de síndrome de Williams-Beuren por MLPA Detection of a Williams Beuren syndrome case by MLPA
Sergio Laurito,Teresita Branham,Gustavo Herrero,Silvana Marsa
Medicina (Buenos Aires) , 2013,
Abstract: El síndrome de Williams-Beuren (WBS) es un trastorno del desarrollo neurológico que incluye diferentes manifestaciones clínicas como estenosis aórtica supravalvular, lesiones cerebrovasculares, retraso en el crecimiento, rasgos faciales "élficos" y retraso mental. Es causado por una microdeleción heterocigótica de genes contiguos en la banda cromosómica 7q11.23, generando un cambio en el número de copias (CNV) de esta región crítica. Los pacientes presentan una amplia manifestación clínica y variada expresión fenotípica. La confirmación de la sospecha clínica es esencial para el seguimiento clínico del paciente y el asesoramiento genético de la familia. La técnica estándar para la detección de WBS es la hibridización fluorescente in situ. En los últimos a os la metodología MLPA (Multiplex Ligation dependent Probe Amplification) ha sido incorporada a los laboratorios diagnósticos para la detección de CNV relacionados con distintas enfermedades, incluyendo WBS. El objetivo de este trabajo fue confirmar el diagnóstico clínico de WBS en un ni o, utilizando la técnica de MLPA. Los ensayos por MLPA permitieron detectar la deleción de los genes CYLN2, FZD9, STX1A, ELN, LIMK1y RFC2. En regiones geográficas donde la determinación por FISH (Fluorescence In Situ Hybridization) no está disponible para esta enfermedad, la metodología MLPA ha permitido confirmar el diagnóstico clínico y detectar los genes involucrados en la alteración. Hasta nuestro conocimiento no hay otros casos publicados sobre síndrome de WB detectado por la técnica MLPA en la Argentina. Williams-Beuren syndrome (WBS) is a rare developmental disorder characterized by distinctive facial, neurobehavioral, and cardiovascular features. WBS is caused by a heterozygous contiguous gene microdeletion of the WBS crítical region on chromosome 7q11.23. Confirmation of clinical suspicion is essential for clinical monitoring of the patient and genetic counseling of the family. Fluorescence in situ hybridization (FISH) is considered the gold standard technique for detecting WBS. Multiplex ligation-dependent probe amplification (MLPA) has been introduced into DNA diagnostic laboratories for the detection of copy number variations in several diseases including WBS. The objective of this study was to confirm, by MLPA, the clinical diagnosis of WBS in a pediatric patient. This technique allowed to detect the deletion of CYLN2, FZD9, STX1A, ELN, LIMK1 and RFC2 genes. In geographic regions were the detection by F ISH is not available for this disease, the MLPA methodology allowed to confirm the clinic diagnostic of
Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies
Jose M Vidal-Taboada, Mercedes Cucala, Sergio Mas Herrero, Amalia Lafuente, Albert Cobos
BMC Medical Genetics , 2006, DOI: 10.1186/1471-2350-7-45
Abstract: Blood samples were collected on DNA-cards. The quality and quantity of DNA recovered were analyzed. Investigators were questioned regarding their general interest, previous experience, safety issues, preferences and perceived patient satisfaction.151 patients' blood samples were collected. Genotyping of GST polymorphisms was achieved in all samples (100%). 28 investigators completed the survey. Investigators perceived patient satisfaction as very good (60.7%) or good (39.3%), without reluctance to finger puncture. Investigators preferred this method, which was considered safer and better than the usual methods. All investigators would recommend using it in future genetic studies.Within the clinical trial setting, the DNA-cards method was very well accepted by investigators and patients (in perception of investigators), and was preferred to conventional methods due to its ease of use and safety.Pharmacogenetic studies are essential both for understanding the variability of drug response observed among patients and furthering the development of personalized medicine [1-3]. Peripheral blood sample collection from patients is a critical step in obtaining DNA for genetic or pharmacogenetic studies. This may require the involvement of different centres, couriers and laboratory resources. A lack of laboratory resources or specialized personnel can restrict the participation of some medical centres [4,5].Blood samples obtained by venepuncture (the standard DNA collection method) often cannot be used due to medical, logistical or cultural reasons. Occasionally, use of such samples is feasible, but prohibitively expensive. This method is a labour-intensive way of obtaining DNA at the doctor's office and is associated with potential security problems. The sample must either be delivered rapidly to the central laboratory or frozen at the doctor's office. Logistical difficulties in managing liquid or frozen samples are associated with high costs [6, 7].Recently, a new method has
Detección de un caso de síndrome de Williams-Beuren por MLPA
Laurito,Sergio; Branham,Teresita; Herrero,Gustavo; Marsa,Silvana; Garro,Fernanda; Roqué,María;
Medicina (Buenos Aires) , 2013,
Abstract: williams-beuren syndrome (wbs) is a rare developmental disorder characterized by distinctive facial, neurobehavioral, and cardiovascular features. wbs is caused by a heterozygous contiguous gene microdeletion of the wbs crítical region on chromosome 7q11.23. confirmation of clinical suspicion is essential for clinical monitoring of the patient and genetic counseling of the family. fluorescence in situ hybridization (fish) is considered the gold standard technique for detecting wbs. multiplex ligation-dependent probe amplification (mlpa) has been introduced into dna diagnostic laboratories for the detection of copy number variations in several diseases including wbs. the objective of this study was to confirm, by mlpa, the clinical diagnosis of wbs in a pediatric patient. this technique allowed to detect the deletion of cyln2, fzd9, stx1a, eln, limk1 and rfc2 genes. in geographic regions were the detection by f ish is not available for this disease, the mlpa methodology allowed to confirm the clinic diagnostic of wbs. to our knowledge this is the first report demonstrating the confirmation of wbs by mlpa in argentina.
Cutting ability of nickel-titanium rotary systems ProTaper, Mtwo and K3
Sergio Herrero Moraes,Marcelo Gon?alves,Mário Tanomaru Filho,Idomeo Bonetti Filho
RSBO , 2012,
Abstract: Introduction: Nickel-titanium rotatory systems should remove dentin during the root canal preparation to promote the enlargement and tapered shape with continuously narrowing towards the apex. Objective: The aim of this study was to analyze the cutting ability of three NiTi rotatory systems (n = 12): ProTaper (group 1), Mtwo (group 2), and K3 (group 3). Material and methods: Thirty six maxillary molar teeth were weighted on an analytical balance before and after the rotatory preparation of the mesio-buccal root canal. Data was statistically analyzed by ANOVA and Tukey’s test with a significance level of 5%. Results: The results revealed the following mass differences (g) before and after the root canal preparation: ProTaper (group 1 – 0.0159 ± 0.004), Mtwo (group 2 – 0.0125 ± 0.002), and K3 (group 3 – 0.007 ± 0.003). Conclusion: ProTaper showed the highest cutting ability among the three tested nickeltitanium rotatory systems followed by Mtwo and K3.
Open cluster Dolidze 25: Stellar parameters and the metallicity in the Galactic Anticentre
Ignacio Negueruela,Sergio Simón-Díaz,Javier Lorenzo,Norberto Castro,Artemio Herrero
Physics , 2015, DOI: 10.1051/0004-6361/201526784
Abstract: The young open cluster Dolidze 25, in the direction of the Galactic Anticentre, has been attributed a very low metallicity, with typical abundances between $-0.5$ and $-0.7$ dex below solar. We intend to derive accurate cluster parameters and accurate stellar abundances for some of its members. We have obtained a large sample of intermediate- and high-resolution spectra for stars in and around Dolidze 25. We used the FASTWIND code to generate stellar atmosphere models to fit the observed spectra. We derive stellar parameters for a large number of OB stars in the area, and abundances of oxygen and silicon for a number of stars with spectral types around B0. We measure low abundances in stars of Dolidze 25. For the three stars with spectral types around B0, we find $0.3$ dex (Si) and $0.5$ dex (O) below the values typical in the solar neighbourhood. These values, even though not as low as those given previously, confirm Dolidze 25 and the surrounding H II region Sh2-284 as the most metal-poor star-forming environment known in the Milky Way. We derive a distance $4.5\pm0.3\:$kpc to the cluster ($r_{\textrm{G}}\approx12.3\:$kpc). The cluster cannot be older than $\sim3\:$Myr, and likely is not much younger. One star in its immediate vicinity, sharing the same distance, has Si and O abundances at most $0.15\:$dex below solar. The low abundances measured in Dolidze 25 are compatible with currently accepted values for the slope of the Galactic metallicity gradient, if we take into account that variations of at least $\pm0.15\:$dex are observed at a given radius. The area traditionally identified as Dolidze 25 is only a small part of a much larger star-forming region that comprises the whole dust shell associated with Sh2-284 and very likely several other smaller H II regions in its vicinity.
Spot Reading of the Absolute Paleointensity of the Geomagnetic Field Obtained from Potsherds (Age Ca. 500-430 AD) in Teotihuacan, Mexico  [PDF]
Emilio Herrero-Bervera
Archaeological Discovery (AD) , 2015, DOI: 10.4236/ad.2015.32008
Abstract: Archaeointensity data have been obtained successfully using the Thellier-Coe protocol from twelve potsherds recovered from the vicinity of the “Piramide del Sol”, Teotihuacan, Mexico. In order to understand the magnetic behavior of the samples, we have conducted low-field versus temperature (k-T) experiments to determine the magnetic carriers of the pre-Columbian artefacts, as well as Saturation Isothermal Remanent Magnetization (SIRM), hysteresis loops and back-fields TESTS. The Curie temperatures indicate the presence of at least three magnetic mineral phases (238°C - 276°C, 569°C - 592°C, and 609°C - 624°C). The predominant Curie temperatures for these samples are typical of Ti-poor magnetite. The results of the magnetic grain size analyses indicate that if the magnetic mineral in a sample is only magnetite, the distribution on the modified Day et al. (1977) diagram yields specimens in the Single (SD), Pseudo (PSD) and Superparamagnetic (SP) domain ranges. The successfully absolute paleointensity determinations in this study using the Thellier-Coe protocol have yielded an average paleointensity of 38.871 +/- 1.833 m-Teslas (N = 12), and a virtual geomagnetic dipole moment of 8.682 +/- 0.402 × 1022 A/m2 which is slightly lower than the present field strength and which corresponds to an age interval between 500 and 430 AD. Thus, our results correlate well with the recently published CALS3K.4 curve and the incipient archaeointensity reference curve for the Mesoamerican paleo-field results. Therefore, the age of the artefacts would correlate well with absolute the early classic Teotihuacan cultural period.
On the Possibility of Obtaining a High Resolution Relative Paleointensity Record of the Pringle Falls Excursion at the Type Locality of Pringle Falls, Oregon, USA  [PDF]
Emilio Herrero-Bervera
Natural Science (NS) , 2016, DOI: 10.4236/ns.2016.83015
Abstract: In order to further understand the full vector excursional details of the geomagnetic field, a paleomagnetic and rock magnetic study of four sites has been conducted at the type locality of Pringle Falls, Oregon where 827 samples were drilled and spaced along a distance of 5 km, for their detailed directional and relative paleointensity studies. The profiles have registered a high-reso- lution (>10 cm/kyr) paleomagnetic record of the excursion (ca. 211+/13 ka) as recorded by diatomaceous lacustrine sediments. Remanence as well as induced magnetization experiments to investigate the reproducibility of the signal throughout the profiles have been conducted. In addition, low-field susceptibility vs. temperature analysis was performed indicating that the main magnetic carrier is pure magnetite (Curie point 575 ℃). The magnetic grain size also has indicated Single Domain-Multi-Domain (SD-MD) magnetite. The demagnetization was done by alternating field (a.f.) experiments, and the mean directions were determined by principal component analyses. In addition, induced magnetic tests were done, such as magnetic susceptibility (x) analyses, saturation IRM, anhysteretic remanent magnetization (ARM70) as well as the normalization of J17.5 mT/ARM70 to attempt to obtain relative paleointensity records of these sediments in question. The results of the induced rock magnetic tests such as the normalization studies indicate a direct correlation between the decrease of the relative paleointensity variations (i.e. lows) with respect to the directional changes. The detailed behavior of the paleosignal is highly consistent, since they are rapidly deposited sediments providing a detailed representation of the paleofield. The dissected VGP paths in 3 different phases are highly internally consistent and are defined by clockwise and anticlockwise loops traveling from the high northern latitudes over eastern North America and the North Atlantic to South America and then to high southern latitudes. They then return to the high northern latitudes through the Pacific and over to Kamchatka. This VGP behavior defines the geomagnetic signature of the Pringle Falls excursion as recorded at the type locality.
Desirability of a standard notation for fisheries assessment  [PDF]
Sergio Ragonese, Sergio Vitale
Agricultural Sciences (AS) , 2013, DOI: 10.4236/as.2013.48057

The worldwide increase of the publications concerning the assessment of marine renewable living resources is highlighting long-standing problems with symbols and annotations. Starting from the symbols presented within the classic fisheries masterpieces produced, mainly in the fifty of the last century, a first “Milestone” list was organised. Thereafter, the pertinent literature was (not exhaustively) browsed in order to integrate this Milestone list on the base of a set of decisional criteria. The present contribution consists in using the Latin letters as well established symbols for the corresponding parameters, leaving free to specific use (with few historical exceptions) the Greek letters in view to open a discussion among all the fisheries scientists and bodies in order to move towards a common language and better communication standards.

Polytypic chromosomal variation in Triturus boscai (Urodela: Salamandridae)
P Herrero
Genetics Selection Evolution , 1991, DOI: 10.1186/1297-9686-23-4-263
El movimiento ecologista ante el deterioro global: retos y utopías
Intervención Psicosocial , 2006, DOI: 10.4321/S1132-05592006000200003
Abstract: the present environmental crisis is derived from exceeding the limits of the planet with regard to its carrying capacity and to its role as a waste drain. this overcoming is a consequence of a social and economic model based on the maximization of monetary benefits, decoupled from materials and energy flows. the environmental movement reports the decline of natural and human ecosystems and sets several proposals addressed to switch the course, presently heading towards collapse, in order to walk towards sustainability.
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