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1.
PLoS One ; 18(6): e0287113, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37315091

RESUMO

Food festivals have been a growing tourism sector in recent years due to their contributions to a region's economic, marketing, brand, and social growth. This study analyses the demand for the Bahrain food festival. The stated objectives were: i) To identify the motivational dimensions of the demand for the food festival, (ii) To determine the segments of the demand for the food festival, and (iii) To establish the relationship between the demand segments and socio-demographic aspects. The food festival investigated was the Bahrain Food Festival held in Bahrain, located on the east coast of the Persian Gulf. The sample consisted of 380 valid questionnaires and was taken using social networks from those attending the event. The statistical techniques used were factorial analysis and the K-means grouping method. The results show five motivational dimensions: Local food, Art, Entertainment, Socialization, and Escape and novelty. In addition, two segments were found; the first, Entertainment and novelties, is related to attendees who seek to enjoy the festive atmosphere and discover new restaurants. The second is Multiple motives, formed by attendees with several motivations simultaneously. This segment has the highest income and expenses, making it the most important group for developing plans and strategies. The results will contribute to the academic literature and the organizers of food festivals.


Assuntos
Férias e Feriados , Atividades de Lazer , Barein , Atmosfera , Alimentos
2.
Rev. esp. patol ; 56(2): 88-96, Abr-Jun 2023. tab, ilus, graf
Artigo em Inglês | IBECS | ID: ibc-219163

RESUMO

Introduction: Anaplastic lymphoma kinase (ALK) rearrangement located on the short arm of chromosome 2, region 2 and band 3 is frequent in lung cancer patients who respond to targeted therapies with ALK inhibitors Therefore, their identification has become a standard diagnostic test in patients with advanced NSCLS, as such chromosomal alterations may lead to the activation of important signalling pathways involved in cell survival and proliferation. Methods: To investigate the ALK gene status, we performed FISH and IHC assays in 18 lung adenocarcinoma patients, 12 women and 6 men, aged between 29 and 85 years. Paraffin-embedded samples were analyzed in the Pathology Department of the Hospital Universitario San Ignacio. Results: Results between the two techniques in 5 patients showed discordant patterns, being positive for FISH and negative for IHC. The borderline to define ALK positivity was set at 15%, These results present experimental evidence that the techniques differ in specific situations. Conclusions: Our findings show that it is advisable to investigate the ALK gene status in patients with suspected lung cancer using both FISH and IHC in combination.(AU)


Introducción: La reorganización de la (anaplastic lymphoma kinase) ALK ubicada en el brazo corto del cromosoma 2, región 2 y banda 3 es frecuente en los pacientes con cáncer de pulmón que responden a terapias dirigidas con inhibidores de la ALK. Por ello, su identificación se ha establecido como una prueba diagnóstica estándar en pacientes con CPCNP, ya que dichas alteraciones cromosómicas puedan determinar la activación de importantes vías de señalización implicadas en la supervivencia y proliferación celulares. Métodos: Para determinar el estatus de gen ALK se realizaron pruebas FISH e IHC en 18 pacientes con adenocarcinoma pulmonar, 12 mujeres y 6 varones, con edades comprendidas entre 29 y 85 años. Las muestras fueron analizadas en el Departamento de Anatomía Patológica del Hospital Universitario San Ignacio. Resultados: Los resultados entre ambas técnicas mostraron patrones discordantes en 5 pacientes, con positividad de FISH y negatividad con IHC. El límite para definir la positividad de ALK se estableció en el 15%. Estos resultados muestran evidencia experimental que dichas técnicas difieren en situaciones específicas. Conclusiones: Este estudio recomienda la investigación del estatus del gen ALK en los pacientes con sospecha de cáncer de pulmón, mediante la combinación de FISH e IHC.(AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Imuno-Histoquímica , Manejo de Espécimes , Hibridização in Situ Fluorescente , Adenocarcinoma de Pulmão , Neoplasias Pulmonares , Espanha , Estudos de Coortes
3.
Rev Esp Patol ; 56(2): 88-96, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37061247

RESUMO

INTRODUCTION: Anaplastic lymphoma kinase (ALK) rearrangement located on the short arm of chromosome 2, region 2 and band 3 is frequent in lung cancer patients who respond to targeted therapies with ALK inhibitors Therefore, their identification has become a standard diagnostic test in patients with advanced NSCLS, as such chromosomal alterations may lead to the activation of important signalling pathways involved in cell survival and proliferation. METHODS: To investigate the ALK gene status, we performed FISH and IHC assays in 18 lung adenocarcinoma patients, 12 women and 6 men, aged between 29 and 85 years. Paraffin-embedded samples were analyzed in the Pathology Department of the Hospital Universitario San Ignacio. RESULTS: Results between the two techniques in 5 patients showed discordant patterns, being positive for FISH and negative for IHC. The borderline to define ALK positivity was set at 15%, These results present experimental evidence that the techniques differ in specific situations. CONCLUSIONS: Our findings show that it is advisable to investigate the ALK gene status in patients with suspected lung cancer using both FISH and IHC in combination.


Assuntos
Adenocarcinoma de Pulmão , Adenocarcinoma , Neoplasias Pulmonares , Feminino , Humanos , Quinase do Linfoma Anaplásico/genética , Imuno-Histoquímica , Receptores Proteína Tirosina Quinases/genética , Receptores Proteína Tirosina Quinases/metabolismo , Hibridização in Situ Fluorescente/métodos , Adenocarcinoma/patologia , Adenocarcinoma de Pulmão/genética , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia
4.
PLoS One ; 18(3): e0281100, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36862677

RESUMO

This study examines the comments posted on tourism-related YouTube videos during the Covid-19 pandemic to establish sustainable development strategies in destinations. Its objectives were: (i) to identify the topics of discussion, (ii) to establish the perceptions of tourism in a pandemic crisis, and (iii) to identify the destinations mentioned. The data was collected between January and May 2020. 39,225 comments were extracted in different languages and globally through the YouTube API. The data processing was carried out using the word association technique. The results show that the most discussed topics were: "people," "country," "tourist," "place," "tourism," "see," "visit," "travel," "covid-19," "life," and "live," which are the focus of the comments made on the perceptions found and represent the attraction factors shown by the videos and the emotions perceived in the comments. The findings show that users' perceptions are related to risks since the "Covid-19" pandemic is associated with the impact on tourism, people, destinations, and affected countries. The destinations in the comments were: India, Nepal, China, Kerala, France, Thailand, and Europe. The research has theoretical implications concerning tourists' perceptions of destinations since new perceptions associated with destinations during the pandemic are shown. Such concerns involve tourist safety and work at the destinations. This research has practical implications since, during the pandemic, companies can develop prevention plans. Also, governments could implement sustainable development plans that contain measures so that tourists can make their trips during a pandemic.


Assuntos
COVID-19 , Mídias Sociais , Humanos , Turismo , COVID-19/epidemiologia , Pandemias , Viagem
5.
Cell Host Microbe ; 31(1): 112-123.e4, 2023 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-36521488

RESUMO

The parasite Cryptosporidium hominis is a leading cause of the diarrheal disease cryptosporidiosis, whose incidence in the United States has increased since 2005. Here, we show that the newly emerged and hyper-transmissible subtype IfA12G1R5 is now dominant in the United States. In a comparative analysis of 127 newly sequenced and 95 published C. hominis genomes, IfA12G1R5 isolates from the United States place into three of the 14 clusters (Pop6, Pop13, and Pop14), indicating that this subtype has multiple ancestral origins. Pop6 (IfA12G1R5a) has an East Africa origin and has recombined with autochthonous subtypes after its arrival. Pop13 (IfA12G1R5b) is imported from Europe, where it has recombined with the prevalent local subtype, whereas Pop14 (IfA12G1R5c) is a progeny of secondary recombination between Pop6 and Pop13. Selective sweeps in invasion-associated genes have accompanied the emergence of the dominant Pop14. These observations offer insights into the emergence and evolution of hyper-transmissible pathogens.


Assuntos
Criptosporidiose , Cryptosporidium , Humanos , Estados Unidos , Cryptosporidium/genética , Criptosporidiose/parasitologia , DNA de Protozoário/genética , Genoma , Recombinação Genética , Genótipo , Fezes/parasitologia
6.
Peptides ; 157: 170863, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36028074

RESUMO

Vascular dysfunction induced by angiotensin-II can result from direct effects on vascular and inflammatory cells and indirect hemodynamic effects. Using isolated and functional cultured aortas, we aimed to identify the effects of angiotensin-II on cyclooxygenase (COX) and inducible nitric oxide synthase (iNOS) and evaluate their impact on vascular reactivity. Aortic rings from mice were incubated overnight in culture medium containing angiotensin-II (100 nmol/L) or vehicle to induce vascular disfunction. Vascular reactivity of cultured arteries was evaluated in a bath chamber. Immunofluorescence staining for COX-1 and COX-2 was performed. Nitric oxide (NO) formation was approached by the levels of nitrite, a NO end product, and using a fluorescent probe (DAF). Oxidative and nitrosative stress were determined by DHE fluorescence and nitrotyrosine staining, respectively. Arteries cultured with angiotensin-II showed impairment of endothelium-dependent relaxation, which was reversed by the AT1 receptor antagonist. Inhibition of COX and iNOS restored vascular relaxation, suggesting a common pathway in which angiotensin-II triggers COX and iNOS, leading to vasoconstrictor receptors activation. Moreover, using selective antagonists, TP and EP were identified as the receptors involved in this response. Endothelium-dependent contractions of angiotensin-II-cultured aortas were blunted by ibuprofen, and increased COX-2 immunostaining was found in the arteries, indicating endothelium release of vasoconstrictor prostanoids. Angiotensin-II induced increased reactive oxygen species and NO production. An iNOS inhibitor prevented NO enhancement and nitrotyrosine accumulation in arteries stimulated with angiotensin-II. These results confirm that angiotensin-II causes vascular inflammation that culminates in endothelial dysfunction in an iNOS and COX codependent manner.


Assuntos
Angiotensina II , Óxido Nítrico , Angiotensina II/metabolismo , Angiotensina II/farmacologia , Animais , Ciclo-Oxigenase 2 , Endotélio Vascular , Corantes Fluorescentes/farmacologia , Ibuprofeno/farmacologia , Camundongos , Óxido Nítrico/metabolismo , Óxido Nítrico Sintase Tipo II/metabolismo , Nitritos/metabolismo , Nitritos/farmacologia , Prostaglandinas , Espécies Reativas de Oxigênio/metabolismo , Vasoconstritores/farmacologia
7.
Antibiotics (Basel) ; 12(1)2022 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-36671265

RESUMO

Background: It has been suggested that Mycobacterium avium, Mycobacterium intracellulare, and M. chimaera have differential drug susceptibility patterns. We prospectively analyzed and compared the drug susceptibility patterns among these species over an 8.5-year period. Methods: A microdilution method (Slomyco®) was performed for drug susceptibility testing of 402 M. avium, 273 M. intracellulare, and 139 M. chimaera clinical isolates. Results: M. avium showed significantly higher resistance to moxifloxacin, ciprofloxacin, rifampicin, ethambutol, streptomycin, linezolid, cotrimoxazole, and clarithromycin. M. avium also showed higher minimum inhibitory concentrations (MIC) than M. intracellulare and M. chimaera against all drugs except ethionamide, to which M. intracellulare and M. chimaera showed greater resistance. Conclusions: Our series demonstrated differential drug resistance patterns among the most frequent M. avium complex species. M. avium was more resistant than M. intracellulare and M. chimaera versus eight antibiotics and showed greater MIC values to most of the antibiotics studied. These data suggest that knowledge of the local distribution and susceptibility profiles of these pathogens is essential for adequate clinical management.

8.
Rev Esp Cardiol (Engl Ed) ; 75(9): 709-716, 2022 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34896031

RESUMO

INTRODUCTION AND OBJECTIVES: HeartLogic is a multiparametric algorithm incorporated into implantable cardioverter-defibrillators (ICD). The associated alerts predict impending heart failure (HF) decompensations. Our objective was to analyze the association between alerts and clinical events and to describe the implementation of a protocol for remote management in a multicenter registry. METHODS: We evaluated study phase 1 (the investigators were blinded to the alert state) and phases 2 and 3 (after HeartLogic activation, managed as per local practice and with a standardized protocol, respectively). RESULTS: We included 288 patients from 15 centers. In phase 1, the median observation period was 10 months and there were 73 alerts (0.72 alerts/patient-y), with 8 hospitalizations and 2 emergency room admissions for HF (0.10 events/patient-y). There were no HF hospitalizations outside the alert period. In the active phases, the median follow-up was 16 (95%CI, 15-22) months and there were 277 alerts (0.89 alerts/patient-y); 33 were associated with HF hospitalizations or HF death (n=6), 46 with minor decompensations, and 78 with other events. The unexplained alert rate was 0.39 alerts/patient-y. Outside the alert state, there was only 1 HF hospitalization and 1 minor HF decompensation. Most alerts (82% in phase 2 and 81% in phase 3; P=.861) were remotely managed. The median NT-proBNP value was higher within than outside the alert state (7378 vs 1210 pg/mL; P <.001). CONCLUSIONS: The HeartLogic index was frequently associated with HF-related events and other clinically relevant situations, with a low rate of unexplained events. A standardized protocol allowed alerts to be safely and remotely detected and appropriate action to be taken on them.


Assuntos
Desfibriladores Implantáveis , Insuficiência Cardíaca , Algoritmos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/terapia , Hospitalização , Humanos , Sistema de Registros
9.
Biomed Rep ; 15(3): 74, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34405046

RESUMO

Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation-dependent probe amplification and next-generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow-up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition.

10.
Exp Ther Med ; 22(2): 902, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34257715

RESUMO

The placenta can be affected by environmental factors, such as exposure to cigarette smoke. This exposure in the fetal context is considered a risk factor for the development of short-term postnatal diseases, such as asthma. Asthma is an inflammatory disease characterized by predominant acquisition of CD4 T lymphocytes (TLs) of the Th2 type. Transcription factors such as GATA binding protein 3 (GATA3) and STAT6 actively participate in the differentiation of virgin TLs towards the Th2 profile, while transcription factors such as STAT1, T-Box transcription factor 21 (T-BET), RUNX1 and RUNX3 participate in their differentiation towards the Th1 profile. The objective of the current study was to evaluate the impact of exposure to cigarette smoke on the gene expression of STAT1, T-BET, GATA3, IL-4, RUNX1 and RUNX3 during the gestation period, and to determine whether the expression levels of these genes are associated with changes in global methylation. STAT1, GATA3, RUNX1 and RUNX3 protein and mRNA expression levels in the placental tissue of women smokers and non-smoking women were determined via immunohistochemistry and quantitative PCR (qPCR) respectively. Additionally, T-BET and IL-4 mRNA expression levels were determined by qPCR. On the other hand, global methylation was determined via ELISA. In the present study, significant increases were observed in RUNX1 transcription factor expression in placentas from women smokers when compared with placentas of non-smoking women. Similarly, significant increases in the expression of GATA3, IL-4 and RUNX3 mRNA were observed. The changes in gene expression were not associated with changes in the global methylation levels. Finally, a higher frequency of low-birth-weight infants were identified in cases of exposure to cigarette smoke during pregnancy when compared with infants not exposed to cigarette smoke during pregnancy. Thus, the data of the present study contributed to the understanding of the genetic and clinical impacts of exposure to cigarette smoke during pregnancy and its importance in maternal and fetal health.

11.
Mol Genet Genomic Med ; 8(11): e1503, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32959501

RESUMO

BACKGROUND: Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X-linked gene dosage as a contributing factor for disease susceptibility. Escape from X-inactivation and X-linked imprinting can result in transcriptional differences between normal men and women as well as in patients with sex chromosome abnormalities. OBJECTIVE: To identify differentially expressed genes among patients with Turner (45,X) and Klinefelter (46,XXY) syndrome using bioinformatics analysis. METHODOLOGY: Two gene expression data sets of Turner (45,X) and Klinefelter syndrome (47,XXY) were obtained from the Gene Omnibus Expression (GEO) database of the National Center for Biotechnology Information (NCBI). Statistical analysis was performed using R Bioconductor libraries. Differentially expressed genes (DEGs) were determined using significance analysis of microarray (SAM). The functional annotation of the DEGs was performed with DAVID v6.8 (The Database for Annotation, Visualization, and Integrated Discovery). RESULTS: There are no genes over-expressed simultaneously in both diseases. However, when crossing the list of under-expressed genes for 45,X cells and the list of over-expressed genes for 47,XXY cells, there are 16 common genes: SLC25A6, AKAP17A, ASMTL, KDM5C, KDM6A, ATRX, CSF2RA, DHRSX, CD99, ZBED1, EIF1AX, MVB12B, SMC1A, P2RY8, DOCK7, DDX3X, eight of which are involved in the regulation of gene expression by epigenetic mechanisms, regulation of splicing processes and protein synthesis. CONCLUSION: Of the 16 identified as under-expressed in 45,X cells and over-expressed in 47,XXY cells, 14 are located in X chromosome and 2 in autosomal chromosome; 8 of these genes are involved in the regulation of gene expression: 5 genes are related to epigenetic mechanisms, 2 in regulation of splicing processes, and 1 in the protein synthesis process. Our results are limited by it being the product of a bioinformatic analysis from mRNA isolated from whole blood, this makes necessary further exploration of the relationships between these genes and Turner syndrome and Klinefelter syndrome in the future.


Assuntos
Síndrome de Klinefelter/genética , Transcriptoma , Síndrome de Turner/genética , Montagem e Desmontagem da Cromatina , Metilação de DNA , Epigênese Genética , Perfilação da Expressão Gênica , Loci Gênicos , Humanos , Síndrome de Klinefelter/metabolismo , Splicing de RNA , Síndrome de Turner/metabolismo , Regulação para Cima
12.
Commun Biol ; 3(1): 454, 2020 08 19.
Artigo em Inglês | MEDLINE | ID: mdl-32814801

RESUMO

Barrier-to-Autointegration Factor (BAF) is a conserved nuclear envelope (NE) component that binds chromatin and helps its anchoring to the NE. Cycles of phosphorylation and dephosphorylation control BAF function. Entering mitosis, phosphorylation releases BAF from chromatin and facilitates NE-disassembly. At mitotic exit, PP2A-mediated dephosphorylation restores chromatin binding and nucleates NE-reassembly. Here, we show that in Drosophila a small fraction of BAF (cenBAF) associates with centromeres. We also find that PP4 phosphatase, which is recruited to centromeres by CENP-C, prevents phosphorylation and release of cenBAF during mitosis. cenBAF is necessary for proper centromere assembly and accurate chromosome segregation, being critical for mitosis progression. Disrupting cenBAF localization prevents PP2A inactivation in mitosis compromising global BAF phosphorylation, which in turn leads to its persistent association with chromatin, delays anaphase onset and causes NE defects. These results suggest that, together with PP4 and CENP-C, cenBAF forms a centromere-based mechanism that controls chromosome segregation and mitosis progression.


Assuntos
Centrômero/genética , Centrômero/metabolismo , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Mitose , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Animais , Biomarcadores , Cromatina/genética , Cromatina/metabolismo , Imunofluorescência , Regulação da Expressão Gênica , Modelos Biológicos , Fosforilação , Ligação Proteica , Transporte Proteico
14.
Cir Cir ; 88(3): 325-330, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32538987

RESUMO

OBJECTIVE: The objective of the study was to analyze the results of endoscopic laser microsurgery for early glottic carcinoma treatment (Stages I and II) at a Tertiary Center in Mexico City. MATERIALS AND METHODS: Descriptive, retrospective review of 40 patients with early glottic carcinoma who were treated with endoscopic laser microsurgery with curative intent at our institution from November 2003 to December 2013. RESULTS: The study yielded 4 pTis, 19 pT1a, 8 pT1b, and 9 pT2 patients. Mean patient follow-up time was 7.4 years (range 3-12.9 years). Post-operative bleeding requiring surgical intervention occurred in 1 (2.5%) patient. Kaplan-Meier results at 3 and 5-year estimates were as follows: overall survival was 92.5 and 87%, respectively; laser only local control was 94.9 and 91.6%, respectively; and disease specific survival and ultimate local control rate were 97.5% for both time periods. We found a 97.5% (39/40) organ preservation rate. CONCLUSIONS: Laser microsurgery for glottic carcinoma treatment is an emerging technique in Mexico. Our results are promising as reported by other authors in Europe and United States of America, which support the replicability of the surgical technique refined by Dr. Wolfgang Steiner.


OBJETIVO: Analizar los resultados del tratamiento del carcinoma glótico temprano (estadios I y II) con microcirugía láser en un hospital de tercer nivel en Ciudad de México. MÉTODO: Estudio descriptivo y retrospectivo en 40 pacientes con cáncer glótico temprano tratados con microcirugía láser de noviembre de 2003 a diciembre de 2013. RESULTADOS: Se estudiaron 4 pTi, 19 pT1a, 8 pT1b y 9 pT2. El tiempo promedio de seguimiento fue de 7.4 años (rango: 3 - 12.9). Se presentó un sangrado posoperatorio con revisión quirúrgica (2.5%). Las curvas de Kaplan-Meier de estimación a 3 y 5 años mostraron una sobrevida total del 92.5 y 87%, respectivamente; control local solo con láser del 94.9 y 91.6%, respectivamente; sobrevida específica de la enfermedad y control local global del 97.5%, para ambos periodos de tiempo. El porcentaje de conservación del órgano fue del 97.5% (39/40). CONCLUSIONES: La microcirugía láser para el tratamiento del cáncer glótico temprano es una técnica que se aplica paulatinamente en México. Nuestros resultados son prometedores y equiparables a los reportados por otros autores en Europa y en los Estados Unidos de América, lo que sustenta la reproducibilidad de la técnica quirúrgica implementada por el Dr. Wolgang Steiner.


Assuntos
Glote/cirurgia , Neoplasias Laríngeas/cirurgia , Terapia a Laser/métodos , Microcirurgia/métodos , Cirurgia Endoscópica por Orifício Natural/métodos , Idoso , Causas de Morte , Intervalo Livre de Doença , Feminino , Hospitais Urbanos/estatística & dados numéricos , Humanos , Intubação Intratraqueal , Estimativa de Kaplan-Meier , Neoplasias Laríngeas/mortalidade , Neoplasias Laríngeas/patologia , Terapia a Laser/instrumentação , Tempo de Internação/estatística & dados numéricos , Masculino , México , Microcirurgia/instrumentação , Pessoa de Meia-Idade , Boca , Cirurgia Endoscópica por Orifício Natural/instrumentação , Recidiva Local de Neoplasia/epidemiologia , Hemorragia Pós-Operatória/epidemiologia , Estudos Retrospectivos , Centros de Atenção Terciária/estatística & dados numéricos , Resultado do Tratamento
16.
Genes (Basel) ; 11(4)2020 04 22.
Artigo em Inglês | MEDLINE | ID: mdl-32331208

RESUMO

Anisakiosis is a fish-borne disease with gastrointestinal and/or allergic symptoms caused by the consumption of raw or undercooked fish parasitized with nematode larvae of the genus Anisakis. In Europe, Anisakis pegreffii has been detected as the causative agent, although the sibling species Anisakis simplex sensu stricto (s.s.) is also known to cause the disease in other parts of the world, and discrepancies exist regarding their respective pathogenic potential. In Spain a high number of cases has been recorded, with marinated anchovies being the main source of infection, although no specific diagnosis has been documented in humans. In this study, we analyzed three cases of anisakiosis in patients from Barcelona (Spain) who had consumed undercooked hake. All patients described epigastric pain and several larval nematodes were removed endoscopically from their stomachs. Larvae were morphologically characterized as third-stage larvae of Anisakis simplex sensu lato (s.l.) and molecularly identified as A. simplex (s.s.) by means of PCR RFLP of the ITS region of the rDNA and sequencing of the elongation factor1 alpha1 (EF1 α-1) nDNA gen. This study represents the first specific identification of Anisakis larvae in clinical cases of anisakiosis reported in Spain. Specific molecular diagnosis is of crucial importance for assessing the health risk of Anisakis sibling species. Hake consumption stands out as a risk factor for anisakiosis, since this fish species can be highly parasitized.


Assuntos
Anisaquíase/diagnóstico , Anisakis/isolamento & purificação , Doenças Transmitidas por Alimentos/diagnóstico , Gadiformes/parasitologia , Gastropatias/diagnóstico , Adulto , Animais , Anisaquíase/parasitologia , Anisakis/genética , Feminino , Doenças Transmitidas por Alimentos/parasitologia , Humanos , Masculino , Pessoa de Meia-Idade , Espanha , Gastropatias/parasitologia , Adulto Jovem
17.
Curr Urol ; 13(4): 169-178, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31998049

RESUMO

Disorders of sexual development (DSD) are conditions with an atypical chromosomal, gonadal or phenotypic sex, which leads to differences in the development of the urogenital tract and different clinical phenotypes. Some genes have been implicated in the sex development during gonadal and functional differentiation where the maintenance of the somatic sex of the gonad as either male or female is achieved by suppression of the alternate route. The diagnosis of DSD requires a structured approach, involving a multidisciplinary team and different molecular techniques. We discuss the dimorphic genes and the specific pathways involved in gonadal differentiation, as well as new techniques for genetic analysis and their diagnostic value including epigenetic mechanisms, expanding the evidence in the diagnostic approach of individuals with DSD to increase knowledge of the etiology.

18.
Mol Syndromol ; 11(5-6): 271-283, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33505230

RESUMO

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

19.
Sex Dev ; 14(1-6): 12-20, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33677455

RESUMO

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

20.
Medicine (Baltimore) ; 98(48): e18129, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31770244

RESUMO

BACKGROUND: This study aims to assess the effect of Balint training (BT) in gastroenterology intern nurse practitioners (GINP) systematically. METHODS: This study will search EMBASE, MEDLINE, PsycINFO, Web of Science, Cochrane Library, Cumulative Index to Nursing and Allied Health Literature, Allied and Complementary Medicine Database, and China National Knowledge Infrastructure from inception to the September 30, 2019 with no language limitation. In addition, we will also search grey records, such as conference abstracts and dissertations. Study quality will be checked using Cochran risk of bias tool. Statistical analysis will be performed using RevMan 5.3 software. RESULTS: This study will systematically evaluate the effect of BT in GINP and will provide evidence to judge whether BT is effective for GINP clinically. CONCLUSION: The results of this study may provide helpful evidence of BT in GINP in the clinical training.


Assuntos
Gastroenterologia/educação , Profissionais de Enfermagem/educação , Terapia Psicanalítica/educação , Avaliação Educacional , Humanos , Projetos de Pesquisa , Revisões Sistemáticas como Assunto
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