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1.
J Virol ; : e0083124, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38856119

RESUMEN

Fungi harbor a vast diversity of mobile genetic elements (MGEs). Recently, novel fungal MGEs, tentatively referred to as 'ambiviruses,' were described. 'Ambiviruses' have single-stranded RNA genomes of about 4-5 kb in length that contain at least two open reading frames (ORFs) in non-overlapping ambisense orientation. Both ORFs are conserved among all currently known 'ambiviruses,' and one of them encodes a distinct viral RNA-directed RNA polymerase (RdRP), the hallmark gene of ribovirian kingdom Orthornavirae. However, 'ambivirus' genomes are circular and predicted to replicate via a rolling-circle mechanism. Their genomes are also predicted to form rod-like structures and contain ribozymes in various combinations in both sense and antisense orientations-features reminiscent of viroids, virusoids, ribozyvirian kolmiovirids, and yet-unclassified MGEs (such as 'epsilonviruses,' 'zetaviruses,' and some 'obelisks'). As a first step toward the formal classification of 'ambiviruses,' the International Committee on Taxonomy of Viruses (ICTV) recently approved the establishment of a novel ribovirian phylum, Ambiviricota, to accommodate an initial set of 20 members with well-annotated genome sequences.

2.
Phytopathology ; : PHYTO10230362R, 2024 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-38079350

RESUMEN

The genus Coguvirus, a recently established genus in the family Phenuiviridae, includes several species whose members infect both woody and herbaceous hosts, suggesting a broader host range and wider distribution than previously. To gain insights into the epidemiology and biology of coguviruses, a polyvalent reverse transcription-PCR assay using degenerate primers was developed. The specificity of the assay for coguviruses was confirmed by testing citrus and apple plants infected by previously reported coguviruses and/or several unrelated viruses. The expected 236-bp amplicon was obtained from citrus, apple, pear, watermelon, and several species of the family Brassicaceae. Sequencing of the PCR amplicons allowed the identification, for the first time in Italy and/or Europe, of several coguviruses in multiple hosts, confirming the effectiveness of the assay. Moreover, a new virus, tentatively named Brassica oleracea Torzella virus 1 (BoTV1), was detected in several plants of Torzella cabbage. The complete +genome of BoTV1, determined by high-throughput sequencing and 5' rapid amplification of cDNA ends, revealed that it has the typical molecular features of coguviruses and fulfils the current criteria to be classified as a member of a new species, for which the tentative name Coguvirus torzellae is proposed. The same polyvalent assay was also used to investigate and confirm that BoTV1 is transmitted through seeds in black cabbage, thus providing the first evidence on the relevance of this natural transmission mode in the epidemiology of coguviruses. [Formula: see text] Copyright © 2024 The Author(s). This is an open access article distributed under the CC BY 4.0 International license.

3.
New Phytol ; 239(1): 240-254, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37148189

RESUMEN

Chlorosis is frequently incited by viroids, small nonprotein-coding, circular RNAs replicating in nuclei (family Pospiviroidae) or chloroplasts (family Avsunviroidae). Here, we investigated how chrysanthemum chlorotic mottle viroid (CChMVd, Avsunviroidae) colonizes, evolves and initiates disease. Progeny variants of natural and mutated CChMVd sequence variants inoculated in chrysanthemum plants were characterized, and plant responses were assessed by molecular assays. We showed that: chlorotic mottle induced by CChMVd reflects the spatial distribution and evolutionary behaviour in the infected host of pathogenic (containing a UUUC tetranucleotide) and nonpathogenic (lacking such a pathogenic determinant) variants; and RNA silencing is involved in the initiation of the chlorosis in symptomatic leaf sectors through a viroid-derived small RNA containing the pathogenic determinant that directs AGO1-mediated cleavage of the mRNA encoding the chloroplastic transketolase. This study provides the first evidence that colonization of leaf tissues by CChMVd is characterized by segregating variant populations differing in pathogenicity and with the ability to colonize leaf sectors (bottlenecks) and exclude other variants (superinfection exclusion). Importantly, no specific pathogenic viroid variants were found in the chlorotic spots caused by chrysanthemum stunt viroid (Pospiviroidae), thus establishing a clear distinction on how members of the two viroid families trigger chlorosis in the same host.


Asunto(s)
Chrysanthemum , Viroides , Viroides/genética , Interferencia de ARN , Enfermedades de las Plantas , Chrysanthemum/genética , ARN Mensajero , ARN Viral/genética
4.
Scand J Psychol ; 64(1): 53-59, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36057793

RESUMEN

Resilience refers to the process by which individuals use the ability to cope with challenges to successfully adapt to adverse situations, inclining towards the future and hope. The main aim of this study was to analyze the relation between resilience, personality traits, and hopelessness. Furthermore, we conducted comparisons between two age groups: young and older adults. The sample comprised 439 Spanish participants (66.7% women; M = 43.73, SD = 26.41; age range = 18-98 years). The Connor-Davidson Resilience Scale, NEO-Five Factor Inventory, and Beck Hopelessness Scale were used to measure the main study variables. The results revealed a negative relation between resilience and neuroticism, and a positive association with the other personality traits. Additionally, levels of resilience were found to be negatively related to hopelessness. The group of older adults showed significantly lower resilience levels than the young adults, although age was not a significant predictor of resilience. Neuroticism, extraversion, openness, and hopelessness were the only predictors of resilience for the current study. This work contributes to the study of resilience and related factors, by attempting to understand the role of resilience and resistance to risk and how individuals tackle challenges over time, with important implications for mental health.


Asunto(s)
Personalidad , Autoimagen , Adulto Joven , Humanos , Femenino , Anciano , Adolescente , Adulto , Persona de Mediana Edad , Anciano de 80 o más Años , Masculino , Afecto , Neuroticismo , Salud Mental , Inventario de Personalidad
5.
Scand J Psychol ; 63(3): 191-198, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35286756

RESUMEN

Sleep is a support for cognitive development in childhood. Most of the studies in the field have focused on school-age children and sleep problems, but less research focuses on the relation between the normative course of sleep and executive functions in preschoolers. Thus, the aim of the present study was to analyze the association between nighttime sleep duration and executive functioning in a 158 non-clinical sample of Spanish participants (Mage = 56.35 months, SD = 11.24; ages 38-78 months; 48.1% girls). Sleep habits were measured by parents' self-reports; Shape School task was applied to assess inhibition and cognitive flexibility; Word Span task was used to assess working memory; and Vocabulary subtest from the Wechsler Preschool and Primary Scale of Intelligence-III was used to assess verbal ability. The findings revealed that the relation between sleep and executive functioning was only significant in the cases of inhibition and working memory. Further, age and verbal ability were related and were predictors of inhibition, working memory, and cognitive flexibility. We consider it necessary to continue researching in this area given the importance of forming a correct sleep habit during the preschool age and its impact on health, cognition, and well-being in childhood. In short, our results represent the first approach to the subject under study, which should be completed with objective sleep measures.


Asunto(s)
Cognición , Función Ejecutiva , Niño , Preescolar , Función Ejecutiva/fisiología , Femenino , Humanos , Inhibición Psicológica , Masculino , Memoria a Corto Plazo , Sueño
6.
Rev Esp Enferm Dig ; 2022 Nov 25.
Artículo en Inglés | MEDLINE | ID: mdl-36426849

RESUMEN

A 73-year-old male patient presented to the Emergency Department with history of weight loss, dysphagia, and recurrent fever. The initial chest radiograph showed a mediastinal hypotransparency and to the complaints of dysphagia the patient did a barium swallow test that revealed a giant Zenker diverticulum. Apart from mildly elevated inflammatory markers and despite the extensive investigation of recurrent fever, no other relevant features were found either in blood analysis, microbiological cultures or computerized tomography. He was submitted to surgical intervention, with no recurrence of fever afterwards. It was assumed that food debris and possible microaspirations were responsible for the recurrence of fever and elevation of inflammatory markers. The patient eventually died due to late complications of surgery. Although recurrent fever is frequently linked to systemic disease, the presence of such a giant diverticulum was probably causing an inflammatory response that is usually not seen in these conditions.

7.
Arch Virol ; 166(10): 2829-2834, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34319452

RESUMEN

Watermelon crinkle leaf-associated virus 1 and watermelon crinkle leaf-associated virus 2 (WCLaV-1 and WCLaV-2), two unclassified members of the order Bunyavirales, are phylogenetically related to members of the genus Coguvirus (family Phenuiviridae). The genome of both viruses was reported previously to be composed of three RNA segments. However, the terminal sequences of two genomic RNA segments, namely those encoding the putative movement protein (MP) and the nucleocapsid (NP) protein, remained undetermined. High-throughput sequencing of total RNA and small RNA preparations, combined with reverse transcription PCR amplification followed by sequencing, revealed that the WCLaV-1 and WCLaV-2 possess a bipartite genome consisting of a negative-sense RNA1, encoding the RNA-dependent RNA polymerase, and an ambisense RNA2, encoding the putative movement (MP) and nucleocapsid (NP) proteins. The two open reading frames of RNA2 are in opposite orientations and are separated by a long AU-rich intergenic region (IR) that may assume a hairpin conformation. RNA1 and RNA2 of both viruses share almost identical 5' and 3' termini, which are complementary to each other up to 20 nt. This genome organization is typical of members of the genus Coguvirus, with which WCLaV-1 and WCLaV-2 also share similar terminal 5' and 3' sequences of RNA1 and RNA2. These molecular features, together with phylogenetic reconstructions support the classification of WCLaV-1 and WCLaV2 as members of two new species in the genus Coguvirus.


Asunto(s)
Citrullus/virología , Genoma Viral/genética , Virus ARN de Sentido Negativo/genética , Secuencia de Aminoácidos , Virus ARN de Sentido Negativo/clasificación , Proteínas de la Nucleocápside/genética , Filogenia , Enfermedades de las Plantas/virología , Hojas de la Planta/virología , Proteínas de Movimiento Viral en Plantas/genética , ARN Viral/genética , ARN Polimerasa Dependiente del ARN/genética , Análisis de Secuencia de ADN
8.
Andrologia ; 53(6): e14026, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33871908

RESUMEN

Sperm aneuploidy is a result of mis-segregation during meiosis and correlates with male infertility. Among the types of aneuploidy, nullisomy has been reported to be more prevalent in human spermatozoa than disomy; however, nullisomy is not always assessed by FISH, and its relation with basic semen parameters is almost unknown. To establish an association between nullisomy and semen parameters and pathologies, we evaluated the potential clinical value of semen analysis and assessed the diagnosis of sperm nullisomy. A prospective study including a total of 130 patients and 25 donors aged 30-50 years with a normal karyotype was carried out. Sperm FISH analyses were performed, and basic semen parameters and ART outcome data were collected. There were no associations between sperm nullisomy of chromosomes 13, 15, 18, 21, 22, X and Y and basic semen parameters. The odds of nullisomy of chromosomes 13, 15, 16, 17, 18, 21, 22, X and Y were not related to semen pathologies. However, sperm nullisomy had a negative impact on ART outcomes, with significant decreases in fertilisation, blastocyst, pregnancy and implantation rates after ICSI. Sperm nullisomy diagnoses are not detected in semen analyses and are a possible cause of idiopathic male infertility and unexplained recurrent pregnancy loss.


Asunto(s)
Infertilidad Masculina , Semen , Aneuploidia , Femenino , Humanos , Infertilidad Masculina/diagnóstico , Infertilidad Masculina/terapia , Masculino , Embarazo , Estudios Prospectivos , Inyecciones de Esperma Intracitoplasmáticas , Espermatozoides
9.
Int J Mol Sci ; 22(7)2021 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-33918424

RESUMEN

Viroids are infectious non-coding RNAs that infect plants. During infection, viroid RNAs are targeted by Dicer-like proteins, generating viroid-derived small RNAs (vd-sRNAs) that can guide the sequence specific cleavage of cognate host mRNAs via an RNA silencing mechanism. To assess the involvement of these pathways in pathogenesis associated with nuclear-replicating viroids, high-throughput sequencing of sRNAs and degradome analysis were carried out on tomato and Nicotiana benthamiana plants infected by potato spindle tuber viroid (PSTVd). Both hosts develop similar stunting and leaf curling symptoms when infected by PSTVd, thus allowing comparative analyses. About one hundred tomato mRNAs potentially targeted for degradation by vd-sRNAs were initially identified. However, data from biological replicates and comparisons between mock and infected samples reduced the number of bona fide targets-i.e., those identified with high confidence in two infected biological replicates but not in the mock controls-to only eight mRNAs that encode proteins involved in development, transcription or defense. Somewhat surprisingly, results of RT-qPCR assays revealed that the accumulation of only four of these mRNAs was inhibited in the PSTVd-infected tomato. When these analyses were extended to mock inoculated and PSTVd-infected N. benthamiana plants, a completely different set of potential mRNA targets was identified. The failure to identify homologous mRNA(s) targeted by PSTVd-sRNA suggests that different pathways could be involved in the elicitation of similar symptoms in these two species. Moreover, no significant modifications in the accumulation of miRNAs and in the cleavage of their targeted mRNAs were detected in the infected tomato plants with respect to the mock controls. Taken together, these data suggest that stunting and leaf curling symptoms induced by PSTVd are elicited by a complex plant response involving multiple mechanisms, with RNA silencing being only one of the possible components.


Asunto(s)
Interacciones Huésped-Patógeno , Interferencia de ARN , Viroides/fisiología , Solanum lycopersicum , ARN Mensajero/metabolismo , Nicotiana
10.
BMC Oral Health ; 21(1): 204, 2021 04 23.
Artículo en Inglés | MEDLINE | ID: mdl-33892689

RESUMEN

BACKGROUND: The aim of the present investigation was to evaluate the literature recurrence of peripheral giant cell granuloma and pyogenic granuloma associated with dental implants. It's important to know the characteristics present in these lesions and possible effects on the prognosis of dental implants. METHODS: An electronic search without time restrictions was done in the databases: PubMed/Medline. With the keywords "Granuloma" OR "Granuloma, Giant Cell" OR "peripheral giant cell" OR "Granuloma, Pyogenic" AND "Dental implants" OR "Oral implants". RESULTS: After applying the inclusion and exclusion criteria, a total of 20 articles were included, which reported 32 lesions (10 pyogenic granulomas, 21 peripheral giant cell granulomas and one peripheral giant cell granuloma combined with peripheral ossifying fibroma, all associated with implants). According to our review, these lesions are more frequent in males and in the posterior region of the mandible. Both excision and curettage of the lesion, compared to only excision, presented similar recurrences (40%). Explantation of the implant was performed in 41% of cases without additional recurrences. The results are not statistically significant when comparing one lesion to the other in terms of explantation (p = 0.97), recurrence (p = 0.57) or bone loss (p = 0.67). CONCLUSIONS: The main therapeutic approach is tissue excision. The lesions show a high recurrence rate (34.4%), which often requires explantation of the associated implant. This recurrence rate is not affected by curettage after excision.


Asunto(s)
Implantes Dentales , Granuloma de Células Gigantes , Granuloma Piogénico , Implantes Dentales/efectos adversos , Granuloma de Células Gigantes/epidemiología , Granuloma Piogénico/epidemiología , Granuloma Piogénico/etiología , Humanos , Masculino , Recurrencia Local de Neoplasia , Prevalencia
11.
J Evid Based Dent Pract ; 21(2): 101569, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34391560

RESUMEN

BACKGROUND: Coronary disease and Hypertension are highly prevalent health problems worldwide, with the latter being one of the most common diseases in patients visiting dental clinics. Local anesthetics (LAs) with vasoconstrictor agents (VC) are known to be commonly used in dental practice. For the above-mentioned reasons, dentists should know how to adapt and treat patients with these hazardous conditions. OBJECTIVE: The aim of this study was to find out if the use of local anesthetics (LAs) in combination with vasoconstrictor (VC) agents in dental treatment presents a risk in patient with a known history of Hypertension and/or Coronary disease. MATERIALS AND METHODS: This systematic review was conducted in accordance with The PRISMA guidelines and registered on the PROSPERO database (CRD42020187369). The search strategy was based on Mesh terms, Boolean operator AND, and the PICO model. It was designed to identify all the randomized clinical trials (RCTs) published in the last 30 years, which assessed whether the use of LA with VC agents in dental treatment produces a significant increase/decrease in hemodynamics in patients with known history of Hypertension and/or Coronary disease. The Cochrane Collaboration's tool was used to assess risk of bias of the included RCTs. RESULTS: An initial electronic search resulted in 87 papers; however only 9 RCTs met the inclusion criteria. There was a total of 482 subjects (N = 482), of which 412 had a known history of Hypertension or Coronary disease. CONCLUSIONS: According to the literature reviewed, the use of 1 to 2 cartridges of local anesthetics with 1:80,000, 1:100,000 or 1:200,000 epinephrine in patients with controlled Hypertension and/ or Coronary disease is safe. Randomized clinical trials are essential in determining the safety or risks associated with the use of LAs with VC agents in patients with poorly controlled Hypertension and Coronary disease.


Asunto(s)
Enfermedad de la Arteria Coronaria , Hipertensión , Anestésicos Locales , Atención Odontológica , Humanos , Hipertensión/tratamiento farmacológico , Vasoconstrictores
12.
Breast Cancer Res Treat ; 179(3): 755-762, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31776828

RESUMEN

OBJECTIVE: Mammographic breast density (BDen), the ratio of glandular volume (GVol) to breast volume (BVol), is the second most prevalent risk factor for breast cancer (BC). Newly developed photon counting technology allows precise and systematic measurements in clinical practice. Our objective is to see how these parameters change with age in women with and without cancer. MATERIALS AND METHODS: This retrospective study analyzed results of BDen, GVol, and BVol in 64,182 mammograms performed with photon counting technology on 32,448 consecutive women from April 2014 to December 2015. Only their first study was included. We excluded women with incomplete data or with breast implants. RESULTS: Mean age of women without BC diagnosed during the study period was 52.1 ± 9.9. BC and was found in 263 women (0.81%). Mean age was 53.0 ± 10.4. BDen, GVol, and BVol were 14%, 24%, and 2% greater in women with BC (P < 0.001 for BDen and GVol and P = 0.02 for BVol). BDen and GVol diminished following similar patterns across age in both groups, with soft slopes before and after a steep drop from 50 to 60, probably due to menopause. CONCLUSION: BDen diminishes with age in women with or without BC, but it is generally higher in women with BC. GVol could be a more robust indicator associated with BC risk than BDen. This technology can ease the way to studies of interventions to diminish BDen (or GVol) in the hope of diminishing BC incidence or predict if longitudinal changes are indicative of impending cancer.


Asunto(s)
Densidad de la Mama , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/epidemiología , Glándulas Mamarias Humanas/diagnóstico por imagen , Glándulas Mamarias Humanas/patología , Mamografía , Absorciometría de Fotón/métodos , Absorciometría de Fotón/normas , Adulto , Anciano , Neoplasias de la Mama/terapia , Estudios Transversales , Análisis de Datos , Femenino , Humanos , Mamografía/métodos , Persona de Mediana Edad , Estudios Retrospectivos , Carga Tumoral
13.
Environ Manage ; 66(2): 232-247, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32419050

RESUMEN

Since the beginning of the Syrian war, Lebanon has experienced a major population change and has become the country with the highest number of refugees per capita. The authors apply a macromarketing perspective to study the effects of this population growth on the environmental management of Lebanon, with implications for the Levant and broader Middle East. An analysis of several factors, including geography, climate, population, economics, and politics, offers a holistic and integrative assessment of resource management, quality-of-life (QOL), economic diversification, and inclusive employment. Attention is given to social dilemmas in Lebanon's consociational politics, and how these dilemmas may be affecting policy making and ultimately sustainable development-locally, nationally, and regionally. The authors share a systemic framework to facilitate understanding and solutions via cooperation and constructive engagement of catalytic institutions, consideration for all stakeholders, and innovative projects that include refugees for best practices to promote sustainable and equitable development, and ultimately peace and prosperity in Lebanon and the Middle East.


Asunto(s)
Calidad de Vida , Refugiados , Humanos , Líbano , Política , Crecimiento Demográfico
14.
J Evid Based Dent Pract ; 20(2): 101407, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32473798

RESUMEN

BACKGROUND: It has been shown that the risk of developing oral cancer is closely related to the intensity and duration of exposure to alcohol and tobacco. Even so, the use of mouthwashes with alcohol in their compositions and the increased risk of oral cancer has been a source of controversy for decades. OBJECTIVE: This study proposes a systematic review and a meta-analysis of the literature, to assess the possible relationship between the use of mouthwashes with alcohol and the development of oral and pharyngeal cancers. MATERIALS AND METHODS: A systematic search was done using the Medline and PubMed databases. Exclusion criteria were as follows: articles published in languages other than English or Spanish, systematic reviews, and expert opinions. No limitations were used for publication date. RESULTS: A total of 14 articles were obtained, 11 case-control studies and 3 clinical trials. Three case-control studies found no statistically significant evidence between the relationship of mouthwash use and oral cancer and the remaining 8 case-control studies found statistically significant evidence. The 3 clinical trials observed a relationship between the use of mouthwashes with alcohol and the possibility of developing cancer due to the genotoxicity and mutagenic capacity of alcohol in chronic contact with oral tissues and mucous membranes. The meta-analysis resulted in an OR = 1.480 and a P-value = .161 (95% CI: 0.855; P-value = 2.561) for the analysis of studies of cancer risk and consumption of mouthwashes with alcohol and OR = 1.057 0.364 (95% CI: 0.951; P-value = 1.174) for studies that related the risk of cancer and mouthwash use without taking into account the presence of alcohol. CONCLUSIONS: There is no sufficient evidence to accept the proposition that the use of mouthwashes containing alcohol can influence the development of oral cancer.


Asunto(s)
Neoplasias de la Boca , Antisépticos Bucales , Carcinogénesis , Estudios de Casos y Controles , Humanos
15.
RNA Biol ; 16(7): 906-917, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30990352

RESUMEN

Understanding how viruses and subviral agents initiate disease is central to plant pathology. Whether RNA silencing mediates the primary lesion triggered by viroids (small non-protein-coding RNAs), or just intermediate-late steps of a signaling cascade, remains unsolved. While most variants of the plastid-replicating peach latent mosaic viroid (PLMVd) are asymptomatic, some incite peach mosaics or albinism (peach calico, PC). We have previously shown that two 21-nt small RNAs (PLMVd-sRNAs) containing a 12-13-nt PC-associated insertion guide cleavage, via RNA silencing, of the mRNA encoding a heat-shock protein involved in chloroplast biogenesis. To gain evidence supporting that such event is the initial lesion, and more specifically, that different chloroses have different primary causes, here we focused on a PLMVd-induced peach yellow mosaic (PYM) expressed in leaf sectors interspersed with others green. First, sequencing PLMVd-cDNAs from both sectors and bioassays mapped the PYM determinant at one nucleotide, a notion further sustained by the phenotype incited by other natural and artificial PLMVd variants. And second, sRNA deep-sequencing and RNA ligase-mediated RACE identified one PLMVd-sRNA with the PYM-associated change that guides cleavage, as predicted by RNA silencing, of the mRNA encoding a thylakoid translocase subunit required for chloroplast development. RT-qPCR showed lower accumulation of this mRNA in PYM-expressing tissues. Remarkably, PLMVd-sRNAs triggering PYM and PC have 5'-terminal Us, involving Argonaute 1 in what likely are the initial alterations eliciting distinct chloroses.


Asunto(s)
Interacciones Huésped-Patógeno/genética , Enfermedades de las Plantas/virología , Virus de Plantas/genética , Plastidios/virología , Polimorfismo de Nucleótido Simple/genética , Replicación Viral/genética , Secuencia de Aminoácidos , Secuencia de Bases , Hojas de la Planta/ultraestructura , Hojas de la Planta/virología , Proteínas de Plantas/química , Proteínas de Plantas/metabolismo , Subunidades de Proteína/metabolismo , Prunus persica/ultraestructura , Prunus persica/virología , ARN Mensajero/genética , ARN Mensajero/metabolismo , Tilacoides/metabolismo
16.
J Peripher Nerv Syst ; 24(1): 131-138, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30569560

RESUMEN

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. This study involves the entire known CMT patient registry in Gran Canaria, represented by 256 patients belonging to 79 unrelated families, who were clinically and genetically characterized, along with physical and neurophysiological evaluation on 181 and 165 patients, respectively. Complete genotyping showed an estimated prevalence of CMT disease of 30.08/100 000 (95% confidence interval [CI] = 26.5;33.9), corresponding mainly (78.5%) to CMT1A (23.6/100 000) and hereditary neuropathy with liability to pressure palsies [HNPP] 17.5%; 5.29/100 000). Most patients (198) with CMT1A carried the 17p11.2 duplication including the PMP22 gene, 45 patients with HNPP were all affected by deletion of the 17p11.2 locus, and 10 patients presented with axonal phenotypes: CMT2A (MFN2), CMT2N (AARS), and CMT1X (GJB1). Despite showing a classical CMT1A phenotype, we found a much earlier age of onset in our CMT1A patients, along with increased frequency of appearance of postural hand tremor. Bilateral tongue atrophy was an additional phenotype observed. Being this CMT1A group, one of the largest cohorts known to date, this study provided a unique opportunity to further define the clinical phenotype of CMT1A patients carrying the 17p11.2 duplication in a homogeneous ethnic group.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/epidemiología , Enfermedad de Charcot-Marie-Tooth/genética , Adolescente , Adulto , Edad de Inicio , Enfermedad de Charcot-Marie-Tooth/patología , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Niño , Cromosomas Humanos Par 17/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mosaicismo , Proteínas de la Mielina/genética , Linaje , Fenotipo , España/epidemiología , Trisomía/genética , Adulto Joven
18.
Thorax ; 72(5): 460-471, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-27701117

RESUMEN

BACKGROUND: Pulmonary hypertension (PH) is frequently observed in patients with acute respiratory distress syndrome (ARDS) and it is associated with an increased risk of mortality. Both acid sphingomyelinase (aSMase) activity and interleukin 6 (IL-6) levels are increased in patients with sepsis and correlate with worst outcomes, but their role in pulmonary vascular dysfunction pathogenesis has not yet been elucidated. Therefore, the aim of this study was to determine the potential contribution of aSMase and IL-6 in the pulmonary vascular dysfunction induced by lipopolysaccharide (LPS). METHODS: Rat or human pulmonary arteries (PAs) or their cultured smooth muscle cells (SMCs) were exposed to LPS, SMase or IL-6 in the absence or presence of a range of pharmacological inhibitors. The effects of aSMase inhibition in vivo with D609 on pulmonary arterial pressure and inflammation were assessed following intratracheal administration of LPS. RESULTS: LPS increased ceramide and IL-6 production in rat pulmonary artery smooth muscle cells (PASMCs) and inhibited pulmonary vasoconstriction induced by phenylephrine or hypoxia (HPV), induced endothelial dysfunction and potentiated the contractile responses to serotonin. Exogenous SMase and IL-6 mimicked the effects of LPS on endothelial dysfunction, HPV failure and hyperresponsiveness to serotonin in PA; whereas blockade of aSMase or IL-6 prevented LPS-induced effects. Finally, administration of the aSMase inhibitor D609 limited the development of endotoxin-induced PH and ventilation-perfusion mismatch. The protective effects of D609 were validated in isolated human PAs. CONCLUSIONS: Our data indicate that aSMase and IL-6 are not simply biomarkers of poor outcomes but pathogenic mediators of pulmonary vascular dysfunction in ARDS secondary to Gram-negative infections.


Asunto(s)
Hipertensión Pulmonar/metabolismo , Interleucina-6/metabolismo , Interleucina-6/farmacología , Arteria Pulmonar/metabolismo , Esfingomielina Fosfodiesterasa/metabolismo , Esfingomielina Fosfodiesterasa/farmacología , Animales , Hidrocarburos Aromáticos con Puentes/farmacología , Células Cultivadas , Ceramidasas/metabolismo , Modelos Animales de Enfermedad , Técnica del Anticuerpo Fluorescente , Humanos , Interleucina-1beta/metabolismo , Lipopolisacáridos , Masculino , Músculo Liso Vascular/citología , Norbornanos , Ratas , Ratas Wistar , Tiocarbamatos , Tionas/farmacología , Vasoconstricción/efectos de los fármacos
19.
Nucleic Acids Res ; 43(4): 2313-25, 2015 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-25662219

RESUMEN

While biogenesis of viroid RNAs is well-known, how they decay is restricted to data involving host RNA silencing. Here we report an alternative degradation pathway operating on potato spindle tuber viroid (PSTVd), the type species of nuclear-replicating viroids (family Pospiviroidae). Northern-blot hybridizations with full- and partial-length probes revealed a set of PSTVd (+) subgenomic (sg)RNAs in early-infected eggplant, some partially overlapping and reaching levels comparable to those of the genomic circular and linear forms. Part of the PSTVd (+) sgRNAs were also observed in Nicotiana benthamiana (specifically in the nuclei) and tomato, wherein they have been overlooked due to their low accumulation. Primer extensions of representative (+) sgRNAs failed to detect a common 5' terminus, excluding that they could result from aborted transcription initiated at one specific site. Supporting this view, 5'- and 3'-RACE indicated that the (+) sgRNAs have 5'-OH and 3'-P termini most likely generated by RNase-mediated endonucleolytic cleavage of longer precursors. These approaches also unveiled PSTVd (-) sgRNAs with features similar to their (+) counterparts. Our results provide a mechanistic insight on how viroid decay may proceed in vivo during replication, and suggest that synthesis and decay of PSTVd strands might be coupled as in mRNA.


Asunto(s)
Enfermedades de las Plantas/virología , Estabilidad del ARN , ARN Viral/metabolismo , Viroides/genética , Núcleo Celular/virología , Genoma Viral , ARN Viral/química , Solanum melongena/virología , Viroides/fisiología , Replicación Viral
20.
Cir Esp ; 95(1): 24-29, 2017 Jan.
Artículo en Inglés, Español | MEDLINE | ID: mdl-28041689

RESUMEN

INTRODUCTION: The objective of this survey is to find out the cumulated experience and the current situation of video-assisted thoracic surgery (VATS) for anatomical lung resections in Spain. METHODS: This is a descriptive study performed from two independent surveys designed through the Survey Monkey® web platform. The first survey was aimed at 53 thoracic surgery departments from the public and state-assisted national health system. The second survey, of a personal nature, was directed at 315 thoracic surgeons in active service, including physicians at their residency program. The surveys were kept operative from 18/11/2014 to 15/01/2015. RESULTS: The first survey was answered by 32 (60%) departments and the second by 167 (53%) professionals. A total of 29 (91%) of the thoracic surgery departments represented recognized having some level of experience in this technique. However, a great proportion of departments, 15 (52%), counted less than 100 procedures and the cumulated time of experience was lower than 5 years in 19 (66%) departments. Among all the individual respondents, 126 (77%) admitted having performed the procedure at some point. Of those without any experience, at least 36 (95%) of them recognized that future training in this technique is one of their future professional objectives. CONCLUSIONS: Waiting for future prospective national registries contribute further information about the expansion of this technique in our country, the results of the current survey show, up to now, the best reflection of clinical practice and opinion of the surgeons involved in the development of VATS.


Asunto(s)
Actitud del Personal de Salud , Neumonectomía/métodos , Cirugía Torácica Asistida por Video , Encuestas de Atención de la Salud , Humanos , Sociedades Médicas , España , Cirugía Torácica
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