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1.
Chem Biodivers ; 21(6): e202400333, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38502786

RESUMEN

The essential oils prepared by hydrodistillation of twenty-one brands of German chamomile (S1-S21) commercialized in Mexico were analyzed by GS-MS. Altogether, twenty-four different compounds were identified in the analyzed samples, varying from 77 to 100 % of the total composition. Multivariate analyses were applied to explore similarity/dissimilarity and correlation between all samples; the results revealed a strong correlation among samples S4, S5, and S7-S21 due to the presence of (Z)-en-yn-dicycloether [(Z)-tonghaosu], α-bisabolol, ß-farnesene, ß-eudesmol, and xanthoxylin. The samples S1-S3 and S6 were clustered separately. Samples S1, S3, and S6 were characterized by their higher content of bisabolol oxide A (38.78 %, 51.84 %, and 70.46 %, respectively) as most known chemotypes of German chamomile, but only S1 and S3 contained chamazulene. Finally, S2 differed from the others because of its high content of (E)-anethole (62.28 %), suggesting a case of adulteration or substitution of the crude drug employed for manufacturing the product.


Asunto(s)
Cromatografía de Gases y Espectrometría de Masas , Matricaria , Aceites Volátiles , Aceites Volátiles/química , México , Matricaria/química , Sesquiterpenos/química , Sesquiterpenos/análisis , Sesquiterpenos Monocíclicos/química , Derivados de Alilbenceno/química
2.
Int J Nurs Stud ; 120: 103955, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34051585

RESUMEN

BACKGROUND: Caregivers of patients with chronic conditions or disability experience fatigue, burden and poor health-related quality of life. There is evidence of the effectiveness of support interventions for decreasing this impact. However, little is known about the benefits of home-based nursing intervention in primary health care. OBJECTIVES: To evaluate the effectiveness of a home-based, nurse-led-intervention (CuidaCare) on the quality of life of caregivers of individuals with disabilities or chronic conditions living in the community, measured at 12-month follow-up. METHODS: A pragmatic, two-arm, cluster-randomized controlled trial with a 1-year follow-up period was performed between June 2013 and December 2015. Consecutive caregivers aged 65 years or older, all of whom assumed the primary responsibility of caring for people with disabling conditions for at least 6 months a year, were recruited from 22 primary health care centers. Subsequently, 11 centers were randomly assigned to usual care group, and 11 were assigned to the intervention group. The caregivers in the intervention group received the usual care and additional support (cognitive restructuring, health education and emotional support). The primary outcome was quality of life, assessed with the EQ-5D instrument (visual analog scale and utility index score); the secondary outcome variables were perception of burden, anxiety, and depression. Data were collected at baseline, at the end of the intervention, and at the 6- and 12-month follow-up visits. We analyzed the primary outcome as intention-to-treat, and missing data were added using the conditional mean single imputation method. RESULTS: A total of 224 caregivers were included in the study (102 in the intervention group and 122 in the usual care group). Generalized Estimating Equation models showed that the CuidaCare intervention was associated with a 5.46 point (95% CI: 2.57; 8.35) change in the quality of life, as measured with the visual analog scale adjusted for the rest of the variables at 12 months. It also produced an increase of 0.04 point (95% CI: 0.01; 0.07) in the utilities. No statistically significant differences were found between the two groups at 12 months with respect to the secondary outcomes. CONCLUSIONS: The findings suggest that incorporating a home-based, nurse-led-intervention for caregivers into primary care can improve the health-related quality of life of caregivers of patients with chronic or disabling conditions.


Asunto(s)
Cuidadores , Calidad de Vida , Cognición , Análisis Costo-Beneficio , Humanos , Atención Primaria de Salud
3.
Molecules ; 25(12)2020 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-32630475

RESUMEN

A magnetic solid phase extraction technique followed by liquid chromatography with a fluorescence detector for naproxen analysis in human urine samples was developed. The method includes the extraction of naproxen with a magnetic solid synthetized with magnetite and poly 4-vinylpriridine, followed by the magnetic separation of the solid phase and desorption of the analyte with methanol. Under optimal conditions, the linear range of the calibration curve was 0.05-0.60 µg L-1, with a limit of detection of 0.02 µg L-1. In all cases values of repeatability were lower than 5.0% with recoveries of 99.4 ± 1.3%. Precision and accuracy values are adequate for naproxen (Npx) analysis in urine samples.


Asunto(s)
Cromatografía Líquida de Alta Presión/métodos , Magnetismo , Naproxeno/orina , Polímeros/química , Polivinilos/química , Extracción en Fase Sólida/métodos , Humanos
4.
Sensors (Basel) ; 20(7)2020 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-32218108

RESUMEN

The importance of the monitoring of thickness and rate deposition is indispensable for the fabrication of thin film sensors, such as SPR sensors. The sensitivity of SPR responses varies with the thickness of the film, as well as the linear range. Thus, in the present work, we presented an experimental study of the plasmonic response of Cr/Au thin films deposited onto glass slides by evaporation, based on both a rotation and no-rotation system. The results show that the thickness of the gold film varies from 240 to 620 Å, depending on the glass slide position. The SPR response curves obtained experimentally were compared with simulated plasmonic responses and different parameters such as resonance angle, and the depth, slope and half-width of the SPR curve were analysed.

5.
Anal Bioanal Chem ; 411(14): 3209-3218, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30976896

RESUMEN

A method was developed for the simultaneous determination of two groups of personal care products, namely UV filters (oxybenzone, 3-(4-methylbenzylidene)camphor, padimate-O, 2-ethylhexyl-4-methoxycinnamate, and octocrylene) and polycyclic aromatic musks (galaxolide and tonalide), in fish by in vivo solid-phase microextraction followed by gas chromatography-mass spectrometry. The in vivo method was validated by carrying out in vitro experiments; the method validation parameters were linearity (r2 > 0.98), interday precision (relative standard deviations < 35.50%), limits of detection and quantification ranging from 2 to 25 ng g-1 and 5 to 70 ng g-1, respectively. The calibrations in vivo and in vitro were determined using a pre-equilibrium sampling rate calibration method. In vivo sampling rate (Rs) was greater than that in vitro; therefore in vivo Rs was applied to the uptake and elimination tracing under controlled laboratory conditions to avoid quantitation error. All analytes were bioaccumulated in muscle tissue over the 5-day exposure in different grades depending on their molecular structure and physicochemical properties; the most absorbed compound was tonalide and the least absorbed compound was padimate-O. The elimination rate was initially high with a rapid decrease of the analyte concentrations for the first 24 h; thereafter, the rate of elimination tended to decrease which indicated that the target analytes were bioaccumulated. To our knowledge, this is the first time that UV filters have been analyzed with in vivo SPME-GC-MS. The proposed method is a simple, miniaturized, and non-lethal alternative for the determination of personal care products in living organisms. Graphical abstract.


Asunto(s)
Benzopiranos/análisis , Cosméticos/análisis , Peces , Cromatografía de Gases y Espectrometría de Masas/métodos , Microextracción en Fase Sólida/métodos , Protectores Solares/análisis , Tetrahidronaftalenos/análisis , Animales , Calibración , Límite de Detección , Reproducibilidad de los Resultados
6.
Sensors (Basel) ; 19(3)2019 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-30678119

RESUMEN

Black Sigatoka is a disease that occurs in banana plantations worldwide. This disease is caused by the hemibiotrophic fungus Pseudocercospora fijiensis, whose infection results in a significant reduction in both product quality and yield. Therefore, detection and identification in the early stages of this pathogen in plants could help minimize losses, as well as prevent the spread of the disease to neighboring cultures. To achieve this, a highly sensitive SPR immunosensor was developed to detect P. fijiensis in real samples of leaf extracts in early stages of the disease. A polyclonal antibody (anti-HF1), produced against HF1 (cell wall protein of P. fijiensis) was covalently immobilized on a gold-coated chip via a mixed self-assembled monolayer (SAM) of alkanethiols using the EDC/NHS method. The analytical parameters of the biosensor were established, obtaining a limit of detection of 11.7 µg mL-1, a sensitivity of 0.0021 units of reflectance per ng mL-1 and a linear response range for the antigen from 39.1 to 122 µg mL-1. No matrix effects were observed during the measurements of real leaf banana extracts by the immunosensor. To the best of our knowledge, this is the first research into the development of an SPR biosensor for the detection of P. fijiensis, which demonstrates its potential as an alternative analytical tool for in-field monitoring of black Sigatoka disease.


Asunto(s)
Ascomicetos/aislamiento & purificación , Ascomicetos/patogenicidad , Técnicas Biosensibles/métodos , Resonancia por Plasmón de Superficie/métodos
7.
J Sep Sci ; 41(10): 2253-2260, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29457872

RESUMEN

A simple method for the simultaneous determination of personal care product ingredients: galaxolide, tonalide, oxybenzone, 4-methylbenzyliden camphor, padimate-o, 2-ethylhexyl methoxycinnamate, octocrylene, triclosan, and methyl triclosan in lettuce by ultrasound-assisted extraction combined with solid-phase microextraction followed by gas chromatography with mass spectrometry was developed. Lettuce was directly extracted by ultrasound-assisted extraction with methanol, this extract was combined with water, extracted by solid-phase microextraction in immersion mode, and analyzed by gas chromatography with mass spectrometry. Good linear relationships (25-250 ng/g, R2  > 0.9702) and low detection limits (1.0-25 ng/g) were obtained for analytes along with acceptable precision for almost all analytes (RSDs < 20%). The validated method was applied for the determination of personal care product ingredients in commercial lettuce and lettuces grown in soil and irrigated with the analytes, identifying the target analytes in leaves and roots of the latter. This procedure is a miniaturized and environmentally friendly proposal which can be a useful tool for quality analysis in lettuce.


Asunto(s)
Cosméticos/análisis , Contaminación de Alimentos/análisis , Lactuca/química , Contaminantes Químicos del Agua/análisis , Acrilatos/análisis , Benzofenonas/análisis , Benzopiranos/análisis , Alcanfor/análogos & derivados , Alcanfor/análisis , Cinamatos/análisis , Cromatografía de Gases y Espectrometría de Masas , Límite de Detección , Espectrometría de Masas , Reproducibilidad de los Resultados , Suelo/química , Microextracción en Fase Sólida , Tetrahidronaftalenos/análisis , Triclosán/análogos & derivados , Triclosán/análisis , Ultrasonido , para-Aminobenzoatos/análisis
8.
J Chromatogr Sci ; 55(9): 946-953, 2017 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-29048490

RESUMEN

A simple method was developed using ultrasound-assisted extraction (UAE) combined with solid-phase microextraction (SPME) coupled with gas chromatography-mass spectrometry (GC-MS) for the simultaneous determination of eight different pharmaceuticals and personal care products (PPCPs) (ibuprofen, 2-benzyl-4-chlorophenol, naproxen, triclosan, ketoprofen, diclofenac, bisphenol A and estrone) in river sediment. UAE conditions were optimized involving extraction variables such as extraction solvent, extraction time, sample amount, extraction temperature, pH and salt addition. A 100 mg of sediment was extracted by optimized UAE process using 7 mL deionized water (pH 3) + 1% methanol as solvent, room temperature and 1 min extraction at 70% of amplitude. A 5 mL of supernatant was subsequently extracted by SPME; the extracted analytes were derivatized on fiber in head-space mode with N-methyl-N-(tertbutyldimethylsilyl) trifluoroacetamide and then analyzed by GC-MS. The developed method was evaluated by testing: precision (CV < 8%), linearity (R  > 0.98), recoveries (56-108%), limits of detection (<0.25 ng/g) and quantitation (<0.8 ng/g). Finally, the method was successfully applied to sediment samples collected from Tula River, Hidalgo, Mexico (one of the most polluted river) in which naproxen and triclosan were identified at ng/g concentration levels. Quantitative results were compared with Tula River water samples, showing PPCPs distribution rate between water and sediment. The method is robust, simple and environmentally friendly, and provides straightforward analyses of these trace organic pollutants in sediment samples.


Asunto(s)
Cromatografía de Gases y Espectrometría de Masas/métodos , Preparaciones Farmacéuticas/análisis , Ríos/química , Microextracción en Fase Sólida/métodos , Contaminantes Químicos del Agua/análisis , Sedimentos Geológicos/química , Límite de Detección , Modelos Lineales , Preparaciones Farmacéuticas/química , Preparaciones Farmacéuticas/aislamiento & purificación , Reproducibilidad de los Resultados , Sonicación , Contaminantes Químicos del Agua/química , Contaminantes Químicos del Agua/aislamiento & purificación
9.
BMC Nurs ; 13(1): 2, 2014 Jan 27.
Artículo en Inglés | MEDLINE | ID: mdl-24467767

RESUMEN

BACKGROUND: In Spain, family is the main source of care for dependent people. Numerous studies suggest that providing informal (unpaid) care during a prolonged period of time results in a morbidity-generating burden. Caregivers constitute a high-risk group that experiences elevated stress levels, which reduce their quality of life.Different strategies have been proposed to improve management of this phenomenon in order to minimize its impact, but definitive conclusions regarding their effectiveness are lacking. METHODS/DESIGN: A community clinical trial is proposed, with a 1-year follow-up period, that is multicentric, controlled, parallel, and with randomized allocation of clusters in 20 health care centers within the Community of Madrid. The study's objective is to evaluate the effectiveness of a standard care intervention in primary health care (intervention CuidaCare) to improve the quality of life of the caregivers, measured at 0, 6, and 12 months after the intervention.One hundred and forty two subjects (71 from each group) ≥65 years, identified by the nurse as the main caregivers, and who provide consent to participate in the study will be included.The main outcome variable will be perceived quality of life as measured by the Visual Analogue Scale (VAS) of EuroQol-5D (EQ-5D). The secondary outcome variables will be EQ-5D Dimensions, EQ-5D Index, nursing diagnosis, and Zarit's test. Prognostic variables will be recorded for the dependent patient and the caregiver.The principle analysis will be done by comparing the average change in EQ-5D VAS value before and after intervention between the two groups. All statistical tests will be performed as intention-to-treat. Prognostic factors' estimates will be adjusted by mixed-effects regression models. Possible confounding or effect-modifying factors will be taken into account. DISCUSSION: Assistance for the caregiver should be integrated into primary care services. In order to do so, incorporating standard, effective interventions with relevant outcome variables such as quality of life is necessary. Community care nurses are at a privileged position to develop interventions like the proposed one. TRIAL REGISTRATION: This trial has been registered in ClinicalTrials.gov under code number NCT 01478295.

10.
Anal Chim Acta ; 805: 60-9, 2013 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-24296144

RESUMEN

Dispersive liquid-liquid microextraction with solidification of floating organic drop (DLLME-SFO) is one of the most interesting sample preparation techniques developed in recent years. Although several applications have been reported, the potentiality and limitations of this simple and rapid extraction technique have not been made sufficiently explicit. In this work, the extraction efficiency of DLLME-SFO for pollutants from different chemical families was determined. Studied compounds include: 10 polycyclic aromatic hydrocarbons, 5 pesticides (chlorophenoxy herbicides and DDT), 8 phenols and 6 sulfonamides, thus, covering a large range of polarity and hydrophobicity (LogKow 0-7, overall). After optimization of extraction conditions using 1-dodecanol as extractant, the procedure was applied for extraction of each family from 10-mL spiked water samples, only adjusting sample pH as required. Absolute recoveries for pollutants with LogKow 3-7 were >70% and recovery values within this group (18 compounds) were independent of structure or hydrophobicity; the precision of recovery was very acceptable (RSD<12%) and linear behavior was observed in the studied concentration range (r(2)>0.995). Extraction recoveries for pollutants with LogKow 1.46-2.8 were in the range 13-62%, directly depending on individual LogKow values; however, good linearity (r(2)>0.993) and precision (RSD<6.5%) were also demonstrated for these polar solutes, despite recovery level. DLLME-SFO with 1-dodecanol completely failed for extraction of compounds with LogKow≤1 (sulfa drugs), other more polar extraction solvents (ionic liquids) should be explored for highly hydrophilic pollutants.

11.
Rev Esp Salud Publica ; 86(1): 85-99, 2012.
Artículo en Español | MEDLINE | ID: mdl-22991032

RESUMEN

BACKGROUND: Morbidity associated to partner violence against women (PVAW) justify these patients repeated visits to Health Services. Primary Care is the ideal place for detectión and first aid, due to its easy accesibility and continuated assistance. Nevertheless, numbers show important difficulties to achieve this goal. Our aim is to find out the level of knowledge, opinions, awareness about organizacional barriers and improvement proposals suggested by the workers of primary care. METHOD: Cross-sectional descriptive study using an anonymous and voluntary survey during the months of August and September 2010, targeted to all professionals who perform their work in a Primary Care Area of Madrid. We made a descriptive analysis of variables and used chi(2) to compare the answers. RESULTS: Answer rate is 170 (21.4%). There are stereotypes regarding battered woman and perpetrador. 118 (70.7%) professionals believe that this is a major problem and 154 (91.7%) that usually goes unnoticed. 91 (55.2%) know their legal commitments. 73 (51.8%) think that there are organizational barriers, among them: the burden of care 50(29%), lack of specific training 40(23.5), lack of knowledge about the procedure to be followed 20(11.8%) and about the professional responsabilities 12 (7%). CONCLUSIONS: All profesional categoríes showed an average level of knowledge, except for social workers that was high. Primary Care workers think that PVAW is an important issue that usually goes unnoticed. Half of them know the legal commitments o detección. There are organizacional barriers and stereotypes.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Personal de Salud , Atención Primaria de Salud , Maltrato Conyugal , Adolescente , Adulto , Anciano , Estudios Transversales , Femenino , Encuestas de Atención de la Salud , Humanos , Masculino , Persona de Mediana Edad , España , Maltrato Conyugal/diagnóstico , Maltrato Conyugal/legislación & jurisprudencia , Maltrato Conyugal/psicología , Maltrato Conyugal/terapia , Adulto Joven
12.
J Agric Food Chem ; 57(12): 5578-85, 2009 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-19473003

RESUMEN

In contrast to the hydrolysis of reserve carbohydrates in most plant-derived alcoholic beverage processes carried out with enzymes, agave fructans in tequila production have traditionally been transformed to fermentable sugars through acid thermal hydrolysis. Experiments at the bench scale demonstrated that the extraction and hydrolysis of agave fructans can be carried out continuously using commercial inulinases in a countercurrent extraction process with shredded agave fibers. Difficulties in the temperature control of large extraction diffusers did not allow the scaling up of this procedure. Nevertheless, batch enzymatic hydrolysis of agave extracts obtained in diffusers operating at 60 and 90 degrees C was studied at the laboratory and industrial levels. The effects of the enzymatic process on some tequila congeners were studied, demonstrating that although a short thermal treatment is essential for the development of tequila's organoleptic characteristics, the fructan hydrolysis can be performed with enzymes without major modifications in the flavor or aroma, as determined by a plant sensory panel and corroborated by the analysis of tequila congeners.


Asunto(s)
Fructanos/química , Proteínas Fúngicas/química , Glicósido Hidrolasas/química , Pinus/química , Vino/análisis , Aspergillus niger/enzimología , Fermentación , Hidrólisis
13.
J Agric Food Chem ; 57(5): 1933-9, 2009 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-19216532

RESUMEN

Five agave plants typically used in Mexico for making mezcal in places included in the Denomination of Origin (Mexican federal law that establishes the territory within which mezcal can be produced) of this spirit were analyzed: Agave salmiana ssp. crassispina, A. salmiana var. salmiana, Agave angustifolia, Agave cupreata, and Agave karwinskii. Fatty acid and total simple lipid profiles of the mature heads of each plant were determined by means of a modified Bligh-Dyer extraction and gas chromatography. Sixteen fatty acids were identified, from capric to lignoceric, ranging from 0.40 to 459 microg/g of agave. Identified lipids include free fatty acids, beta-sitosterol, and groups of mono-, di-, and triacylglycerols, their total concentration ranging from 459 to 992 microg/g of agave. Multivariate analyses performed on the fatty acid profiles showed a close similarity between A. cupreata and A. angustifolia. This fact can be ascribed to the taxa themselves or differences in growing conditions, an issue that is still to be explored. These results help to characterize the agaves chemically and can serve to relate the composition of mezcals from various states of Mexico with the corresponding raw material.


Asunto(s)
Agave/química , Ácidos Grasos/análisis , Agave/clasificación , Cromatografía de Gases
14.
J Chromatogr A ; 1216(14): 2843-7, 2009 Apr 03.
Artículo en Inglés | MEDLINE | ID: mdl-19100557

RESUMEN

A simple method for the analysis of capsaicin and dihydrocapsaicin in peppers and pepper sauces by solid phase microextraction-gas chromatography-mass spectrometry has been developed. A novel device was designed for direct extraction solid phase microextraction in order to avoid damage to the fiber. The analysis was performed without derivatization for the gas chromatography-mass spectrometry analysis. Selection fiber, extraction temperature, extraction time and pH, were optimized. The method was linear in the range 0.109-1.323 microg/mL for capsaicin and 0.107-1.713 microg/mL for dihydrocapsaicin with correlation coefficient up to r=0.9970 for both capsaicinoids. The precision of the method was less than 10%. The method was applied to the analysis of 11 varieties of peppers and four pepper sauces. A broad range of capsaicin (55.0-25 459 microg/g) and dihydrocapsaicin (93-1 130 microg/g) was found in the pepper and pepper sauces samples (4.3-717.3 and 1.0-134.8 microg/g), respectively.


Asunto(s)
Capsaicina/análogos & derivados , Capsaicina/análisis , Capsicum/química , Cromatografía de Gases y Espectrometría de Masas/métodos , Microextracción en Fase Sólida/métodos , Capsaicina/aislamiento & purificación
15.
Anal Biochem ; 373(2): 272-80, 2008 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-17920028

RESUMEN

Silica glasses doped with 500-700 microg of bovine serum albumin were prepared by the sol-gel method; two pH conditions (pH 5 and 7) were assayed for protein encapsulation. Both biomaterials showed a highly porous structure, with pore sizes in the range 5-28 nm. Columns packed with the ground biogels were on-line coupled to a C18 HPLC column for evaluation of the entrapped protein binding properties using propranolol. Binding capacities (at saturation) were approximately 3.7 and 7.1 microg of propranolol (drug-protein molar ratios 1.4 and 2.7) for the biogels prepared at pH 5 and 7, respectively. The significant difference indicates increased albumin denaturation upon encapsulation at pH 5. A frontal analysis study was then performed in cartridges packed with biogel prepared at pH 7 to evaluate the protein interaction with naproxen at low concentrations (

Asunto(s)
Naproxeno/química , Propranolol/química , Unión Proteica , Albúmina Sérica Bovina/química , Animales , Bovinos , Geles , Vidrio
16.
J Chromatogr A ; 1134(1-2): 291-7, 2006 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-16996530

RESUMEN

Solid phase microextraction and capillary gas chromatography-mass spectrometry were used for the determination of seven terpenes in tequila. The method was selected based on the following parameters: coating selection (PA, PDMS, CW/DVB, and PDMS/DVB), extraction temperature, addition of salt, and extraction time profile. The extraction conditions were: PDMS/DVB fiber, Headspace, 100% NaCl, 25 degrees C extraction temperature, 30 min extraction time and stirring at 1200 rpm. The calibration curves (50-1000 ng/ml) for the terpenes followed linear relationships with correlation coefficients (r) greater than 0.99, except for trans,trans-farnesol (r = 0.98). RSD values were smaller than 10% confirmed that the technique was precise. Samples from 18 different trade brands of "Aged" tequila analyzed with the developed method showed the same terpenes in different concentrations. The analytical procedure used is selective, robust (more than 100 analyses with the same fiber), fast and of low-cost.


Asunto(s)
Bebidas Alcohólicas/análisis , Cromatografía de Gases y Espectrometría de Masas/métodos , Microextracción en Fase Sólida/métodos , Terpenos/análisis , Dimetilpolisiloxanos , Temperatura , Terpenos/química , Terpenos/aislamiento & purificación , Factores de Tiempo
17.
Am J Med Genet A ; 137A(3): 255-8, 2005 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-16088916

RESUMEN

Molecular testing for mutations in the gene encoding connexin-26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non-syndromic hearing impairment (ARNSHI). The spectrum of mutations in GJB2 varies considerably among the populations, different alleles predominating in different ethnic groups. A cohort of 34 families of Spanish Romani (gypsies) with ARNSHI was screened for mutations in GJB2. We found that DFNB1 deafness accounts for 50% of all ARNSHI in Spanish gypsies. The predominating allele is W24X (79% of the DFNB1 alleles), and 35delG is the second most common allele (17%). An allele-specific PCR test was developed for the detection of the W24X mutation. By using this test, carrier frequencies were determined in two sample groups of gypsies from different Spanish regions (Andalusia and Catalonia), being 4% and 0%, respectively. Haplotype analysis for microsatellite markers closely flanking the GJB2 gene revealed five different haplotypes associated with the W24X mutation, all sharing the same allele from marker D13S141, suggesting that a founder effect for this mutation is responsible for its high prevalence among Spanish gypsies.


Asunto(s)
Conexinas/genética , Genes Recesivos/genética , Pérdida Auditiva/genética , Mutación , Romaní/genética , Cromosomas Humanos Par 13/genética , Codón sin Sentido , Conexina 26 , Salud de la Familia , Femenino , Frecuencia de los Genes , Genotipo , Haplotipos , Pérdida Auditiva/etnología , Pérdida Auditiva/patología , Humanos , Masculino , Repeticiones de Microsatélite , Prevalencia , España/epidemiología , Síndrome
18.
J Chromatogr A ; 1027(1-2): 131-6, 2004 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-14971494

RESUMEN

Steam distillation (SD) extraction-solid-phase microextraction coupled to GC-MS was developed for the determination of terpenes and Bligh-Dyer extraction-derivatization coupled with GC for the determination of fatty acids such as ethyl esters were used. It was found that the three different Agave species have the same profile of fatty acids; the quantity of these compounds is different in each Agave variety. On the other hand, different terpenes were identified in the three Agave plants studied: nine in A. salmiana, eight in A. angustifolia and 32 in A. tequilana Weber var. azul.


Asunto(s)
Agave/química , Cromatografía de Gases y Espectrometría de Masas/métodos , Agave/clasificación , Esterificación , Especificidad de la Especie , Terpenos/análisis
19.
Am J Hum Genet ; 73(6): 1452-8, 2003 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-14571368

RESUMEN

Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%-50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12, was shown to be the accompanying mutation in approximately 50% of these deaf GJB2 heterozygotes in a cohort of Spanish patients, thus becoming second only to 35delG at GJB2 as the most frequent mutation causing prelingual hearing impairment in Spain. Here, we present data from a multicenter study in nine countries that shows that the deletion is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%-20.9% after screening for the del(GJB6-D13S1830) mutation. Our results also suggest that additional mutations remain to be identified, either in DFNB1 or in other unlinked genes involved in epistatic interactions with GJB2. Analysis of haplotypes associated with the deletion revealed a founder effect in Ashkenazi Jews and also suggested a common founder for countries in Western Europe. These results have important implications for the diagnosis and counseling of families with DFNB1 deafness.


Asunto(s)
Conexinas/genética , Evolución Molecular , Pérdida Auditiva/genética , Conexina 26 , Cartilla de ADN , Europa (Continente) , Efecto Fundador , Frecuencia de los Genes , Pruebas Genéticas , Haplotipos/genética , Humanos , Israel , Judíos/genética , Repeticiones de Microsatélite/genética , Mutación/genética , Estados Unidos
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