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1.
2.
Mol Psychiatry ; 22(11): 1604-1614, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-27457812

RESUMEN

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1-3% of the general population. Although research into the genetic causes of ID has recently gained momentum, identification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predominantly due to non-availability of sizeable families. Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes. Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bioinformatics analyses. In another eight families segregation of multiple pathogenic variants was observed, affecting 19 genes that were either known or are novel candidates for ID. Transcriptome profiles of normal human brain tissues showed that the novel candidate ID genes formed a network significantly enriched for transcriptional co-expression (P<0.0001) in the frontal cortex during fetal development and in the temporal-parietal and sub-cortex during infancy through adulthood. In addition, proteins encoded by 12 novel ID genes directly interact with previously reported ID proteins in six known pathways essential for cognitive function (P<0.0001). These results suggest that disruptions of temporal parietal and sub-cortical neurogenesis during infancy are critical to the pathophysiology of ID. These findings further expand the existing repertoire of genes involved in ARID, and provide new insights into the molecular mechanisms and the transcriptome map of ID.


Asunto(s)
Discapacidad Intelectual/genética , Alelos , Consanguinidad , Exoma/genética , Familia , Frecuencia de los Genes/genética , Estudios de Asociación Genética/métodos , Humanos , Mutación , Pakistán , Linaje , Secuenciación del Exoma/métodos
3.
Ultrasound Obstet Gynecol ; 52(4): 488-493, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29418032

RESUMEN

OBJECTIVE: To investigate the influence of ethnicity, fetal gender and placental dysfunction on birth weight (BW) in term fetuses of South Asian and Caucasian origin. METHODS: This was a retrospective study of 627 term pregnancies assessed at two public tertiary hospitals in Spain and Sri Lanka. All fetuses underwent biometry and Doppler examinations within 2 weeks of delivery. The influences of fetal gender and ethnicity, gestational age (GA) at delivery, cerebroplacental ratio (CPR) and maternal age, height, weight and parity on BW were evaluated by multivariable regression analysis. RESULTS: Fetuses born in Sri Lanka were smaller than those born in Spain (mean BW = 3026 ± 449 g vs 3295 ± 444 g; P < 0.001). Multivariable regression analysis demonstrated that GA at delivery, maternal weight, CPR, maternal height and fetal gender (estimates = 0.168, P < 0.001; 0.006, P < 0.001; 0.092, P = 0.003; 0.009, P = 0.002; 0.081, P = 0.01, respectively) were associated significantly with BW. Conversely, no significant association was noted for maternal ethnicity, age or parity (estimates = -0.010, P = 0.831; 0.005, P = 0.127; 0.035, P = 0.086, respectively). The findings were unchanged when the analysis was repeated using INTERGROWTH-21st fetal weight centiles instead of BW (log odds, -0.175, P = 0.170 and 0.321, P < 0.001, respectively for ethnicity and CPR). CONCLUSION: Fetal BW variation at term is less dependent on ethnic origin and better explained by placental dysfunction. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.


Asunto(s)
Retardo del Crecimiento Fetal/diagnóstico por imagen , Feto/irrigación sanguínea , Arteria Cerebral Media/diagnóstico por imagen , Madres , Insuficiencia Placentaria/diagnóstico por imagen , Arterias Umbilicales/diagnóstico por imagen , Adulto , Circulación Cerebrovascular/fisiología , Femenino , Retardo del Crecimiento Fetal/etnología , Feto/diagnóstico por imagen , Humanos , Recién Nacido , Arteria Cerebral Media/embriología , Arteria Cerebral Media/fisiopatología , Insuficiencia Placentaria/fisiopatología , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Flujo Pulsátil , Estudios Retrospectivos , España/epidemiología , Sri Lanka/epidemiología , Ultrasonografía Doppler , Ultrasonografía Prenatal , Arterias Umbilicales/embriología , Arterias Umbilicales/fisiopatología
4.
J Appl Microbiol ; 124(1): 209-219, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29024331

RESUMEN

AIMS: To set up a practical method to detect latent infections of Colletotrichum sp., the causal agent of olive anthracnose, on olives before the onset of disease symptoms. METHODS AND RESULTS: Freezing, sodium hydroxide (NaOH), ethanol and ethylene treatments were evaluated to detect latent infections on inoculated and naturally infected olive fruit by Colletotrichum sp. as non-hazardous alternatives to paraquat. Treatments were conducted using fruit of cultivars Arbequina and Hojiblanca. The disease incidence and T50 were calculated. Dipping in NaOH 0·05% solution and the paraquat method were the most effective treatments on both inoculated and naturally infected fruit, although the value of T50 was lower for the NaOH method than for the paraquat method in one of the experiments. Subsequently, the dipping time in NaOH 0·05% was evaluated. Longer dipping times in NaOH 0·05% were better than shorter ones in cultivar Arbequina, with 72 h being the most effective in cultivar Hojiblanca. CONCLUSIONS: NaOH solution is a practical method to detect latent infections of Colletotrichum sp. on immature olive fruit. SIGNIFICANCE AND IMPACT OF THE STUDY: This study is relevant because we set up a viable, non-hazardous alternative to paraquat to detect latent infections of Colletotrichum sp. using NaOH. The use of NaOH is a simple and eco-friendly tool that allows the determination of the level of latent infections by Colletotrichum in olives. Therefore, our method will be useful in decision-making processes for disease management before the appearance of the first visible symptoms.


Asunto(s)
Colletotrichum/fisiología , Olea/microbiología , Enfermedades de las Plantas/microbiología , Colletotrichum/genética , Colletotrichum/aislamiento & purificación , Frutas/microbiología
5.
J Eur Acad Dermatol Venereol ; 32(4): 581-586, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28796927

RESUMEN

BACKGROUND: Every actinic keratosis (AK) starts with atypia at the basal layers of the epidermis (AK I). Progression into invasive squamous cell carcinoma (iSCC) may occur following two main pathways, classical and differentiated. In the former, iSCC only occurs after involvement of the upper epidermal layers by atypical cells (AK III), while in the latter iSCC develops directly from AK I. In the anogenital mucosa, these two pathways are associated with differential expression of p53 and p16. OBJECTIVE: To explore differences between both pathways in the pathogenesis of AK, focusing on Ki67, p53, p16 and molecules that reveal epithelial-mesenchymal transition (EMT). METHODS: Tissue microarrays representative of superficial and deep portions of 80 consecutive iSCCs (53 DP/27CP) were studied immunohistochemically using antibodies against Ki67, p53, p16, vimentin, E-cadherin, ß-catenin and D2-40. The evaluation was performed by three researchers and the results compared to consensus. RESULTS: Invasive squamous cell carcinomas originated through the differentiated pathway exhibited significantly lower proliferative activity (Ki67) (30% vs 46%, P = 0.003) and significantly lower expression of vimentin (P < 0.001), E-cadherin (P < 0.001) and membranous ß-catenin (P < 0.001) than iSCCs developed through the classical pathway. The expression of E-cadherin and membranous ß-catenin was significantly correlated (Pearson's r = 0.386, Spearman's Rho < 0.001). There were no significant differences regarding the expressions of p53, p16 and D2-40. CONCLUSION: Epithelial-mesenchymal transition participates in transformation from AK I into iSCC (differentiated pathway), whereas a higher proliferative capacity facilitates intraepidermal extension in the classical pathway. Podoplanin, which is also involved in tumour invasion, does not seem to play a differential role in either pathway. Finally, the absence of differences in p53 and p16 expressions is at variance with other epithelia where the classical pathway is associated with human papillomavirus infection and can be explained by the fact that both AK pathways share identical mechanisms of actinic oncogenesis.


Asunto(s)
Carcinoma de Células Escamosas/patología , Diferenciación Celular , Proliferación Celular , Transición Epitelial-Mesenquimal , Queratosis Actínica/patología , Invasividad Neoplásica , Neoplasias Cutáneas/patología , Anticuerpos Monoclonales de Origen Murino/metabolismo , Cadherinas/metabolismo , Carcinoma de Células Escamosas/metabolismo , Genes p16 , Humanos , Queratosis Actínica/metabolismo , Antígeno Ki-67/metabolismo , Neoplasias Cutáneas/metabolismo , Análisis de Matrices Tisulares , Proteína p53 Supresora de Tumor/metabolismo , Vimentina/metabolismo , beta Catenina/metabolismo
6.
Ann Oncol ; 27(7): 1235-41, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27029707

RESUMEN

BACKGROUND: A minority of early breast cancer (EBC) patients treated with adjuvant or neoadjuvant chemotherapy have sufficient baseline vitamin D (vitD) level. This randomized phase III study assessed the safety and efficacy of a tailored, high-dose, oral vitD supplementation in restoring a normal 25-hydroxy vitD (25OHD) level in this population. PATIENTS AND METHODS: Participants received a 6-month conventional (C) vitD and calcium supplementation or a 6-month high-dose oral vitD regimen tailored on the deficiency (T) and a conventional calcium supplementation. The primary end point was the 6-month percentage of 25OHD serum level normalization. RESULTS: A total of 215 patients including 197 patients with vitD deficiency were recruited, and 195 patients were randomized (T, 100; C, 95). Compliance to the daily oral supplementation was 68.4% and 67% in the C and T arms, respectively. Discontinuous high-dose vitD compliance appeared higher in the T arm (77%). At 6 months, more patients presented with a normalized vitD level in the T arm (30% versus 12.6%; P = 0.003). Supplementation was well tolerated, and no significant difference in the treatment-related toxicity between the two arms was reported. Fifty-two patients without vitD normalization from the C arm switched to the T arm after 6 months. At 12 months, 44% of these patients achieved vitD normalization. CONCLUSION: A tailored high-dose oral vitD supplementation safely allows a higher percentage of the serum 25OHD level normalization compared with a conventional regimen in chemotherapy-treated EBC patients. As compliance to a daily oral supplementation remains poor in this setting, an adaptation of the treatment schedule is warranted. CLINICAL TRIAL NUMBER: NCT01480869.


Asunto(s)
Neoplasias de la Mama/dietoterapia , Suplementos Dietéticos , Deficiencia de Vitamina D/dietoterapia , Vitamina D/administración & dosificación , Adulto , Anciano , Neoplasias de la Mama/sangre , Neoplasias de la Mama/patología , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/patología , Femenino , Humanos , Persona de Mediana Edad , Estadificación de Neoplasias , Calidad de Vida , Vitamina D/análogos & derivados , Vitamina D/sangre , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/patología
7.
Plant Dis ; 99(1): 58-64, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30699745

RESUMEN

The evaluation of the relative susceptibility of new cultivars to the main diseases of a crop is a key point to consider prior to their release to the nursery industry. This study provides a rigorous characterization of the resistance of 15 new olive cultivars and their genitors ('Arbequina,' 'Frantoio,' and 'Picual') to the three main aerial diseases, peacock spot, anthracnose, and cercosporiosis caused by Spilocaea oleagina, Colletotrichum acutatum, and Pseudocercospora cladosporioides, respectively. To do so, developing leaves and detached green-yellowish fruit were inoculated in laboratory tests with S. oleagina and C. acutatum, respectively, using conidial suspensions of both pathogens. Additionally, a previously validated rating scale was used to assess the incidence of leaves with symptoms of S. oleagina or P. cladosporioides and the fruit rot incidence of C. acutatum in the trees for four years under field conditions. As a result, only two of the cultivars were susceptible to peacock spot, most likely because these new cultivars were previously screened for resistance to the disease on previous phases of the breeding program. Conversely, the 15 cultivars were susceptible or moderately susceptible to cercosporiosis. Five of the 15 new cultivars were classified as resistant to anthracnose, with four of them descendants of 'Frantoio' × 'Picual' crosses. In addition, the cultivars resistance to C. acutatum showed a negative linear correlation with the total phenols content of olive oil. This information regarding disease reaction of the new olive cultivars is essential for nursery industry and growers.

8.
Plant Dis ; 97(4): 556, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30722223

RESUMEN

Species in the Botryosphaeriaceae are known to produce cankers, dieback, blights, and leaf spots on many hosts, mainly under stress conditions. Several Botryosphaeria spp. may also cause pre- or post-harvest decay of stone fruit, such as peaches (2). In June 2012, fruit of plum (Prunus domestica cv. Golden Japan) showing soft, brown, and slightly sunken necrotic lesions were observed in several orchards affected by hail in Cordoba province (southern Spain). Symptomatic fruit were collected and incubated at 25°C and 100% relative humidity. Isolations were done on potato dextrose agar (PDA). Mycelium and black pycnidia developed on the surface of incubated fruit and on PDA plates. Conidia were hyaline, aseptate, and fusoid. According to morphological criteria, the fungus was identified as Fusicoccum aesculi, the anamorph of Botryosphaeria dothidea (3). The internal transcribed spacer (ITS) region of rDNA was amplified with primers ITS4/ITS5 and sequenced. BLAST analysis of the 528-bp fragment showed 100% homology with the sequence of B. dothidea. Pathogenicity tests were performed on immature healthy fruit (2 weeks before harvest) of the same cultivar from the same orchards. Fruit were washed in deionized water with Tween 20 (Polyoxyethylene 20 sorbitan monolaureate 99%, 0.1 ml/liter) and surface sterilized in 10% sodium hypochlorite for 1 min. Twenty-four fruit were inoculated using mycelial-agar discs. Twelve fruit were previously wounded with a sterile 0.5-mm-diameter needle. The same number of fruit, wounded and unwounded, served as a control. All fruit were incubated at 25°C and 100% relative humidity. Seven days after inoculation, 83% of wounded inoculated fruit showed rot symptoms. After 9 days, fruit rot symptoms started to appear on unwounded inoculated fruit. Twenty days after inoculation, 100% of wounded and unwounded fruit showed rot symptoms that led to mummification of the fruit. Pycnidia developed on inoculated fruit and the fungus was reisolated. No symptoms developed on control fruit. These results demonstrate that B. dothidea is pathogenic on plum and that wounds favor infection, although they are not needed. To our knowledge this is the first report of B. dothidea causing fruit rot of plum in Spain. This pathogen is well known in southern Spain causing a serious fruit rot of olive (1) and could have a great impact on plum production in this region, especially when there is damage to the fruits as occurred this year with hail. References: (1) J. Moral et al. Phytopathology 100:1340, 2010. (2) J. M. Ogawa et al. Compendium of Stone Fruit Diseases. APS Press, St. Paul, MN, 1995. (3) B. Slippers et al. Mycologia 96:83, 2004.

9.
Plant Dis ; 97(12): 1549-1556, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30716819

RESUMEN

Olive scab caused by the mitosporic fungus Spilocaea oleagina is the most important foliar disease of olive. Limited information is available on pathogen survival and disease epidemiology; however, this information is essential for development of new control strategies. Pathogen survival and inoculum production on infected olive leaves and conidial dispersal were evaluated during 4 years in an olive orchard of the susceptible 'Picual' in southern Spain. Infected leaves in the tree canopy were important for pathogen survival and conidia production. The number of conidia per square centimeter of scab lesion and their viability varied greatly throughout the seasons and between years; conidial density in lesions was highest (about 1 to 5 × 105 conidia cm-2) from November to February in favorable years. Conidial density declined sharply in other periods of the year (becoming zero in summer) or in less favorable years. The pathogen did not form new conidia in scab lesions, although some pseudothecia-like structures and chlamydospores were detected on fallen leaves. Under humid conditions, the pathogen could not be detected on fallen leaves after 3 months because the leaves were colonized by saprophytic fungi. The dispersal of conidia as a function of distance from infected leaves in the tree canopy was well described by an exponential model which, together with the lack of conidia in a Burkard spore trap, showed that conidia were mainly rain-splash dispersed. Some trapped conidia were attached to olive leaf trichomes, suggesting that detached trichomes might enhance wind dispersal of conidia.

10.
Artículo en Inglés | MEDLINE | ID: mdl-37541328

RESUMEN

BACKGROUND AND OBJECTIVE: There is a growing body of evidence that the equations used to estimate the glomerular filtration rate (GFR) are not suitable in critically ill patients, a population whose GFR fluctuates continuously. Glomerular filtration is usually estimated by measuring urine creatinine clearance (CrCl) at various time points. The aim of our study was to evaluate the performance of the most widely used GFR calculators in the subpopulation of critically ill patients admitted for severe trauma, and to compare the results against determinations of CrCl in urine collected over a 4-h period (4h-CrCl). MATERIAL AND METHODS: Observational study in patients hospitalized for severe trauma. We measured the 4h-CrCl and estimated GFR using the Cockcroft-Gault, modified Jelliffe, MDRD, t-MDRD, and CKD-EPI equations, adjusting the results for body surface area (BSA) (ml/min/1.73m2). Data were analysed using R version 4.0.4. RESULTS: A total of 85 patients were included. Median age was 51 years, and 68 were men (78.82%). The mean BSA-adjusted 4h-CrCl (4h-ClCr/1.73m2) was 84.5 ml/min/1.73m2. We found that GFR estimated using the t-MDRD equation correlated significantly with 4h-CrCl/1.73m2. The Cockcroft-Gault equation correlated significantly with 4h-CrCl/1.73m2 when GFR was greater than 130ml/min/m2. CONCLUSIONS: In ICU patients, glomerular filtration can be reliably estimated by determining urine CrCl, but GFR calculators are not accurate in this population.


Asunto(s)
Enfermedad Crítica , Masculino , Humanos , Persona de Mediana Edad , Femenino , Tasa de Filtración Glomerular , Creatinina/orina
11.
Cancer Radiother ; 26(1-2): 104-107, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34953712

RESUMEN

The aim of this review is to present the specificities of clinical research in radiation oncology. Objectives are similar to all research in oncology: to improve the efficacy and to decrease toxic effects. Phase III trials remain the main methodology to demonstrate an improvement in efficiency, but phase I-II and registers are also important tools to validate an improvement in the therapeutic index with new technologies. In this article we discuss the special features of end-points, selection of population, and design for radiation oncology clinical trials. Quality control of delivered treatments is an important component of these protocols. Financial issues are also discussed, in the particular context of France.


Asunto(s)
Investigación Biomédica , Ensayos Clínicos como Asunto/métodos , Oncología por Radiación , Radioterapia , Proyectos de Investigación , Investigación Biomédica/economía , Francia , Física Sanitaria , Humanos , Selección de Paciente , Supervivencia sin Progresión , Control de Calidad , Calidad de Vida , Radioterapia/normas , Dosificación Radioterapéutica , Apoyo a la Investigación como Asunto
12.
Plant Dis ; 94(3): 382, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30754236

RESUMEN

Pistachio (Pistacia vera L.) trees in the Castilla La Mancha and Andalusia regions of central and southern Spain are grown close to olive orchards, which are often severely affected by Verticillium dahliae. During the last decade, wilt and death of one or several branches have been observed on pistachio (cv. Kerman) scions grafted on rootstock (P. terebinthus). Discoloration of vascular tissue was occasionally observed. In five surveyed orchards, incidence of affected trees was less than 2%. Wood chips with the bark removed from symptomatic trees were washed in running tap water, surface disinfested in 0.5% sodium hypochlorite for 1 min, and placed onto potato dextrose agar plates incubated at 25°C in the dark. Isolates were identified as V. dahliae on the basis of the characteristics of microsclerotia, conidiophores, and conidia. V. dahliae isolate V117 from olive was used as reference (1). The fungus was also isolated from soil in pistachio orchards using wet sieving and a modified sodium polypectate agar medium (1). Inoculum density varied from 0 to 4.73 microsclerotia per gram of soil. P. terebinthus seedlings were inoculated with two isolates of V. dahliae from pistachio trees by injecting the stems with 50 µl of a conidial suspension (107 conidia per ml) (2). Wilt symptoms of varying severity developed in 12 and 15 seedlings of the 20 pistachio seedlings inoculated with each of two isolates. No symptoms developed on the control seedlings. The pathogen was recovered from stem tissues of inoculated plants. To our knowledge, this is the first report of Verticillium wilt of pistachio in Spain. This study demonstrates the susceptibility of certain rootstocks to V. dahliae and the importance of using resistant rootstocks, such as UCBI (2), in pistachio plantations established on soils infested by V. dahliae. References: (1) F. J. López-Escudero and M. A. Blanco-López. Plant Dis. 91:1372, 2007. (2) D. P. Morgan et al. Plant Dis. 76:310, 1992.

13.
Methods Find Exp Clin Pharmacol ; 32 Suppl A: 15-7, 2010 Dec.
Artículo en Español | MEDLINE | ID: mdl-21381283

RESUMEN

In the last decade there has been increasing awareness of the importance of thymus gland function in the reconstitution of host immunity following hematopoietic transplantation. A functional thymus contributes to foster T compartment reconstitution, with an increased diversity of T receptor rearrangement, and a more physiological distribution of the functional subpopulations. Palifermin, a keratinocyte growth factor (KGF) approved for reducing the incidence and severity of oral mucositis, has been proposed as a possible strategy for improving thymus function and immune reconstitution after hematopoietic transplantation. In vitro and animal models show palifermin to protect the thymus from chemo-/radiotherapy induced damage, increasing thymic production, accelerating immune reconstitution, improving response to vaccines, and reducing the incidence of graft-versus-host disease in animal models. To date, no studies have analyzed this possible application in humans. This study reports preliminary data on immune reconstitution in 50 autologous transplant recipients (30 treated with palifermin and 20 controls). The results suggest that palifermin at the doses and involving the regimens indicated for the prevention of oral mucositis has no effect upon thymus gland function in adult patients, and induces no changes in T immune recovery (either CD4 or CD8) or in the percentage of functional T subpopulations or T helper lymphocytes.


Asunto(s)
Factor 7 de Crecimiento de Fibroblastos/uso terapéutico , Trasplante de Células Madre Hematopoyéticas , Factores Inmunológicos/uso terapéutico , Estomatitis/prevención & control , Subgrupos de Linfocitos T/efectos de los fármacos , Timo/efectos de los fármacos , Animales , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Estomatitis/etiología , Subgrupos de Linfocitos T/inmunología , Timo/inmunología , Trasplante Autólogo , Resultado del Tratamiento
14.
Anal Chim Acta ; 1109: 69-77, 2020 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-32252907

RESUMEN

Many industrial enzymes exhibit macro- and micro-heterogeneity due to co-occurring post-translational modifications. The resulting proteoforms may have different activity and stability and, therefore, the characterization of their distributions is of interest in the development and monitoring of enzyme products. Protein glycosylation may play a critical role as it can influence the expression, physical and biochemical properties of an enzyme. We report the use of hydrophilic interaction liquid chromatography-mass spectrometry (HILIC-MS) to profile intact glycoform distributions of high mannose-type N-glycosylated proteins, using an industrially produced fungal lipase for the food industry as an example. We compared these results with conventional reversed phase LC-MS (RPLC-MS) and sodium dodecyl sulfate-polyacrylamide gel-electrophoresis (SDS-PAGE). HILIC appeared superior in resolving lipase heterogeneity, facilitating mass assignment of N-glycoforms and sequence variants. In order to understand the glycoform selectivity provided by HILIC, fractions from the four main HILIC elution bands for lipase were taken and subjected to SDS-PAGE and bottom-up proteomic analysis. These analyses enabled the identification of the most abundant glycosylation sites present in each fraction and corroborated the capacity of HILIC to separate protein glycoforms based on the number of glycosylation sites occupied. Compared to RPLC-MS, HILIC-MS reducted the sample complexity delivered to the mass spectrometer, facilitating the assignment of the masses of glycoforms and sequence variants as well as increasing the number of glycoforms detected (69 more proteoforms, 177% increase). The HILIC-MS method required relatively short analysis time (<30 min), in which over 100 glycoforms were distinguished. We suggest that HILIC(-MS) can be a valuable tool in characterizing bioengineering processes aimed at steering protein glycoform expression as well as to check the consistency of product batches.


Asunto(s)
Lipasa/metabolismo , Manosa/metabolismo , Aspergillus niger/enzimología , Cromatografía Liquida , Glicosilación , Interacciones Hidrofóbicas e Hidrofílicas , Lipasa/química , Manosa/química , Espectrometría de Masas
15.
Rehabilitacion (Madr) ; 53(2): 116-120, 2019.
Artículo en Español | MEDLINE | ID: mdl-31186093

RESUMEN

Patients with spinal cord injuries above the C5 vertebrae have a high risk of respiratory complications, and complete spinal cord injures can require support with mechanical ventilation. In selected patients, implantation of a diaphragmatic pacemaker offers the possibility of breathing without mechanical support and reduces respiratory complications, increasing the patient's independence. Ultrasonography is a simple and non-invasive technique that may be useful in the differential diagnosis of thoracic diseases. We present the case of a patient with a traumatic cervical spinal cord injury, who underwent diaphragmatic pacemaker implantation. The use of ultrasound allowed rapid and reliable diagnosis of device malfunction. M-mode diaphragmatic ultrasonography is a simple and non-invasive technique that can be incorporated into routine clinical practice to diagnose diaphragm movement disorders.


Asunto(s)
Falla de Equipo , Marcapaso Artificial , Trastornos Respiratorios/cirugía , Vértebras Cervicales , Diafragma/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Trastornos Respiratorios/etiología , Traumatismos de la Médula Espinal/complicaciones , Ultrasonografía
16.
J Cell Physiol ; 213(3): 759-67, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17559061

RESUMEN

Many environmental signals, including ionizing radiation and UV rays, induce activation of Egr-1 gene, thus affecting cell growth and apoptosis. The paucity and the controversial knowledge about the effect of electromagnetic fields (EMF) exposure of nerve cells prompted us to investigate the bioeffects of radiofrequency (RF) radiation on SH-SY5Y neuroblastoma cells. The effect of a modulated RF field of 900 MHz, generated by a wire patch cell (WPC) antenna exposure system on Egr-1 gene expression, was studied as a function of time. Short-term exposures induced a transient increase in Egr-1 mRNA level paralleled with activation of the MAPK subtypes ERK1/2 and SAPK/JNK. The effects of RF radiations on cell growth rate and apoptosis were also studied. Exposure to RF radiation had an anti-proliferative activity in SH-SY5Y cells with a significant effect observed at 24 h. RF radiation impaired cell cycle progression, reaching a significant G2-M arrest. In addition, the appearance of the sub-G1 peak, a hallmark of apoptosis, was highlighted after a 24-h exposure, together with a significant decrease in mRNA levels of Bcl-2 and survivin genes, both interfering with signaling between G2-M arrest and apoptosis. Our results provide evidence that exposure to a 900 MHz-modulated RF radiation affect both Egr-1 gene expression and cell regulatory functions, involving apoptosis inhibitors like Bcl-2 and survivin, thus providing important insights into a potentially broad mechanism for controlling in vitro cell viability.


Asunto(s)
Ciclo Celular/efectos de la radiación , Proteína 1 de la Respuesta de Crecimiento Precoz/metabolismo , Expresión Génica/efectos de la radiación , Microondas/efectos adversos , Neuroblastoma/patología , Apoptosis/efectos de la radiación , Western Blotting , Técnicas de Cultivo de Célula , Línea Celular Tumoral , Supervivencia Celular/efectos de la radiación , Relación Dosis-Respuesta en la Radiación , Citometría de Flujo , Humanos , Neuroblastoma/metabolismo , Propidio/metabolismo , Dosis de Radiación , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
17.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 49(3): 100768, Jul - Sep 2022. tab
Artículo en Español | IBECS (España) | ID: ibc-205911

RESUMEN

Antecedentes: La disfunción sexual en la mujer es un problema multicausal y multidimensional, poco estudiado en la consulta de Ginecología. El objetivo de este trabajo fue estimar la calidad de vida sexual mediante el test de Índice de Función Sexual Femenina en las mujeres que acudieron a la consulta de Ginecología e identificar qué variables se asociaban a esta. Material y métodos: Estudio observacional descriptivo que incluye a las pacientes que acudieron a la consulta de Ginecología entre marzo y agosto 2019. Las pacientes rellenaron anónimamente el test de Índice de Función Sexual Femenina y se recogieron variables sociodemográficas y clínicas. Para establecer las características que pudieron estar asociadas con la calidad de la salud sexual se elaboró un modelo de regresión lineal múltiple. Resultados: Del total de pacientes encuestadas un 39,4% presentaban disfunción sexual con un valor medio del test de 27,2. Si excluimos pacientes que no tenían relaciones en el momento de la encuesta, este porcentaje descendió al 19,2%. La variable que más descendió el valor del Índice de Función Sexual Femenina fue la menopausia. Asimismo la edad y el tener 3 o más hijos también disminuyó el valor del test. Por el contrario, los estudios universitarios mejoraron significativamente el resultado de dicho test. Conclusiones: La disfunción sexual femenina es un problema multifactorial. Dado que afecta de forma significativa la salud global de las mujeres, se hace patente la necesidad de abordar la problemática en las consultas de Ginecología de manera real y eficaz.(AU)


Background and objective: Female sexual dysfunction is a multicausal and multidimensional pathology, often underestimated in gynaecology care. The aim of this study was to estimate the quality of sexual life using the Female Sexual Function Index test in women who attended the gynaecology practice and to identify which variables were associated with sexual dysfunction. Material and methods: Descriptive observational study that includes patients who attended routine gynaecology care between March and August 2019. The patients filled out the Female Sexual Function Index anonymously and sociodemographic and clinical variables were collected. To establish the characteristics that could be associated with the quality of sexual health, a multiple linear regression model was developed. Results: Of the total of patients surveyed, 39.4% presented sexual dysfunction with a mean value of 27.2. After excluding patients without sexual intercourse at the time of the survey, this percentage dropped to 19.2%. Menopause was the variable that most lowered the Female Sexual Function Index value. Likewise, age and having 3 or more children also decreased the test score. Nevertheless, having a university education significantly improved womeńs sexual health. Conclusions: Female sexual dysfunction is a multifactorial problem that greatly affects women's well-being. It is important to assess this problem in routine gynaecology care in order to improve female sexual and global health.(AU)


Asunto(s)
Humanos , Femenino , Salud Sexual , Salud de la Mujer , Disfunciones Sexuales Fisiológicas , Encuestas y Cuestionarios , Ginecología , Obstetricia
20.
Eur Phys J C Part Fields ; 75(5): 218, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26005369

RESUMEN

We calculate the shape of the [Formula: see text] and [Formula: see text] invariant mass distributions in the [Formula: see text] and [Formula: see text] decays that are dominated by the [Formula: see text] resonance. The weak interaction part is the same for both processes and the hadronization into the different meson-baryon channels in the final state is given by symmetry arguments. The most important feature is the implementation of the meson-baryon final-state interaction using two chiral unitary models from different theoretical groups. Both approaches give a good description of antikaon-nucleon scattering data, the complex energy shift in kaonic hydrogen and the line shapes of [Formula: see text] in photoproduction, based on the two-pole scenario for the [Formula: see text]. We find that this reaction reflects more the higher mass pole and we make predictions of the line shapes and relative strength of the meson-baryon distributions in the final state.

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