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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.
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Férias e Feriados , Atividades de Lazer , Barein , Atmosfera , AlimentosRESUMO
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.
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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/patologiaRESUMO
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.
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COVID-19 , Mídias Sociais , Humanos , Turismo , COVID-19/epidemiologia , Pandemias , ViagemRESUMO
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.
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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/farmacologiaRESUMO
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.
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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.
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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.
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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 CimaRESUMO
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.
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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 TratamentoRESUMO
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.
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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.
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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.
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ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
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Humanos , Masculino , Adulto , Fenótipo , Transtorno 46,XY do Desenvolvimento Sexual/genética , Homozigoto , Mutação , Síndrome , Neoplasias Testiculares/cirurgia , Neoplasias Testiculares/genética , Seminoma/cirurgia , Seminoma/genética , Colômbia , Análise Citogenética , Criptorquidismo/cirurgia , Criptorquidismo/genética , Hormônio Antimülleriano/genética , Transtorno 46,XY do Desenvolvimento Sexual/cirurgia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgiaRESUMO
The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
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Transtorno 46,XY do Desenvolvimento Sexual/genética , Homozigoto , Mutação , Fenótipo , Adulto , Hormônio Antimülleriano/genética , Colômbia , Criptorquidismo/genética , Criptorquidismo/cirurgia , Análise Citogenética , Transtorno 46,XY do Desenvolvimento Sexual/cirurgia , Humanos , Masculino , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Seminoma/genética , Seminoma/cirurgia , Síndrome , Neoplasias Testiculares/genética , Neoplasias Testiculares/cirurgiaRESUMO
RESUMO Objetivo: Avaliar a eficácia e a segurança da oxigenoterapia com uso de cânula nasal de alto fluxo no tratamento da insuficiência respiratória hipercápnica moderada em pacientes que não conseguem tolerar ou têm contraindicações para ventilação mecânica não invasiva. Métodos: Estudo prospectivo observacional de 13 meses envolvendo participantes admitidos a uma unidade de terapia intensiva com insuficiência respiratória hipercápnica ou durante o processo de seu desenvolvimento. Os parâmetros clínicos e de troca gasosa foram registrados em intervalos regulares durante as primeiras 24 horas. Os parâmetros finais foram saturação de oxigênio entre 88 e 92%, juntamente da redução do esforço respiratório (frequência respiratória) e da normalização do pH (≥ 7,35). Os participantes foram considerados não responsivos em caso de necessidade de utilização de suporte ventilatório. Resultados: Trinta participantes foram tratados utilizando oxigenoterapia com cânula nasal de alto fluxo. Esta foi uma população mista com exacerbação de doença pulmonar obstrutiva crônica, edema pulmonar cardiogênico agudo, e insuficiência respiratória aguda pós-operatória e pós-extubação. Observou-se melhora não significante na frequência respiratória (28,0 ± 0,9 versus 24,3 ± 1,5; p = 0,22), que foi aparente nas primeiras 4 horas do tratamento. Ocorreu melhora do pH, embora só se tenham obtido níveis normais após 24 horas de tratamento com cânula nasal de alto fluxo (7,28 ± 0,02 versus 7,37 ± 0,01; p = 0,02). A proporção de não responsivos foi de 13,3% (quatro participantes), dos quais um necessitou e aceitou ventilação mecânica não invasiva, e três necessitaram de intubação. A mortalidade na unidade de terapia intensiva foi de 3,3% (um participante), e um paciente morreu após a alta para a enfermaria (mortalidade hospitalar de 6,6%). Conclusão: O oxigenoterapia com cânula nasal de alto fluxo é eficaz para a insuficiência respiratória hipercápnica moderada e ajuda a normalizar os parâmetros clínicos e de troca gasosa, com taxa aceitável de não responsivos que necessitaram de suporte ventilatório.
ABSTRACT Objective: To assess the efficacy and safety of high-flow nasal cannula oxygen therapy in treating moderate hypercapnic respiratory failure in patients who cannot tolerate or have contraindications to noninvasive mechanical ventilation. Methods: A prospective observational 13-month study involving subjects admitted to an intensive care unit with or developing moderate hypercapnic respiratory failure. Clinical and gas exchange parameters were recorded at regular intervals during the first 24 hours. The endpoints were a oxygen saturation between 88 and 92% along with a reduction in breathing effort (respiratory rate) and pH normalization (≥ 7.35). Subjects were considered nonresponders if they required ventilatory support. Results: Thirty subjects were treated with high-flow nasal cannula oxygen therapy. They consisted of a mixed population with chronic obstructive pulmonary disease exacerbation, acute cardiogenic pulmonary edema, and postoperative and postextubation respiratory failure. A nonsignificant improvement was observed in respiratory rate (28.0 ± 0.9 versus 24.3 ± 1.5, p = 0.22), which was apparent in the first four hours of treatment. The pH improved, although normal levels were only reached after 24 hours on high-flow nasal cannula therapy (7.28 ± 0.02 versus 7.37 ± 0.01, p = 0.02). The rate of nonresponders was 13.3% (4 subjects), of whom one needed and accepted noninvasive mechanical ventilation and three required intubation. Intensive care unit mortality was 3.3% (1 subject), and a patient died after discharge to the ward (hospital mortality of 6.6%). Conclusion: High-flow nasal cannula oxygen therapy is effective for moderate hypercapnic respiratory failure as it helps normalize clinical and gas exchange levels with an acceptable rate of nonresponders who require ventilatory support.
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Humanos , Masculino , Feminino , Idoso , Oxigenoterapia/métodos , Insuficiência Respiratória/terapia , Hipercapnia/terapia , Unidades de Terapia Intensiva , Oxigênio/administração & dosagem , Oxigênio/metabolismo , Oxigenoterapia/efeitos adversos , Troca Gasosa Pulmonar , Estudos Prospectivos , Resultado do Tratamento , Cânula , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To assess the efficacy and safety of high-flow nasal cannula oxygen therapy in treating moderate hypercapnic respiratory failure in patients who cannot tolerate or have contraindications to noninvasive mechanical ventilation. METHODS: A prospective observational 13-month study involving subjects admitted to an intensive care unit with or developing moderate hypercapnic respiratory failure. Clinical and gas exchange parameters were recorded at regular intervals during the first 24 hours. The endpoints were a oxygen saturation between 88 and 92% along with a reduction in breathing effort (respiratory rate) and pH normalization (≥ 7.35). Subjects were considered nonresponders if they required ventilatory support. RESULTS: Thirty subjects were treated with high-flow nasal cannula oxygen therapy. They consisted of a mixed population with chronic obstructive pulmonary disease exacerbation, acute cardiogenic pulmonary edema, and postoperative and postextubation respiratory failure. A nonsignificant improvement was observed in respiratory rate (28.0 ± 0.9 versus 24.3 ± 1.5, p = 0.22), which was apparent in the first four hours of treatment. The pH improved, although normal levels were only reached after 24 hours on high-flow nasal cannula therapy (7.28 ± 0.02 versus 7.37 ± 0.01, p = 0.02). The rate of nonresponders was 13.3% (4 subjects), of whom one needed and accepted noninvasive mechanical ventilation and three required intubation. Intensive care unit mortality was 3.3% (1 subject), and a patient died after discharge to the ward (hospital mortality of 6.6%). CONCLUSION: High-flow nasal cannula oxygen therapy is effective for moderate hypercapnic respiratory failure as it helps normalize clinical and gas exchange levels with an acceptable rate of nonresponders who require ventilatory support.
OBJETIVO: Avaliar a eficácia e a segurança da oxigenoterapia com uso de cânula nasal de alto fluxo no tratamento da insuficiência respiratória hipercápnica moderada em pacientes que não conseguem tolerar ou têm contraindicações para ventilação mecânica não invasiva. MÉTODOS: Estudo prospectivo observacional de 13 meses envolvendo participantes admitidos a uma unidade de terapia intensiva com insuficiência respiratória hipercápnica ou durante o processo de seu desenvolvimento. Os parâmetros clínicos e de troca gasosa foram registrados em intervalos regulares durante as primeiras 24 horas. Os parâmetros finais foram saturação de oxigênio entre 88 e 92%, juntamente da redução do esforço respiratório (frequência respiratória) e da normalização do pH (≥ 7,35). Os participantes foram considerados não responsivos em caso de necessidade de utilização de suporte ventilatório. RESULTADOS: Trinta participantes foram tratados utilizando oxigenoterapia com cânula nasal de alto fluxo. Esta foi uma população mista com exacerbação de doença pulmonar obstrutiva crônica, edema pulmonar cardiogênico agudo, e insuficiência respiratória aguda pós-operatória e pós-extubação. Observou-se melhora não significante na frequência respiratória (28,0 ± 0,9 versus 24,3 ± 1,5; p = 0,22), que foi aparente nas primeiras 4 horas do tratamento. Ocorreu melhora do pH, embora só se tenham obtido níveis normais após 24 horas de tratamento com cânula nasal de alto fluxo (7,28 ± 0,02 versus 7,37 ± 0,01; p = 0,02). A proporção de não responsivos foi de 13,3% (quatro participantes), dos quais um necessitou e aceitou ventilação mecânica não invasiva, e três necessitaram de intubação. A mortalidade na unidade de terapia intensiva foi de 3,3% (um participante), e um paciente morreu após a alta para a enfermaria (mortalidade hospitalar de 6,6%). CONCLUSÃO: O oxigenoterapia com cânula nasal de alto fluxo é eficaz para a insuficiência respiratória hipercápnica moderada e ajuda a normalizar os parâmetros clínicos e de troca gasosa, com taxa aceitável de não responsivos que necessitaram de suporte ventilatório.
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Hipercapnia/terapia , Unidades de Terapia Intensiva , Oxigenoterapia/métodos , Insuficiência Respiratória/terapia , Idoso , Cânula , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Oxigênio/administração & dosagem , Oxigênio/metabolismo , Oxigenoterapia/efeitos adversos , Estudos Prospectivos , Troca Gasosa Pulmonar , Resultado do TratamentoRESUMO
Lung cancer has a high mortality rate in men and women worldwide. Approximately 15% of diagnosed patients with this type of cancer do not exceed the 5-year survival rate. Unfortunately, diagnosis is established in advanced stages, where other tissues or organs can be affected. In recent years, lineage-specific transcription factors have been associated with a variety of cancers. One such transcription factor possibly regulating cancer is RUNX2, the master gene of early and late osteogenesis. In thyroid and prostate cancer, it has been reported that RUNX2 regulates expression of genes important in tumor cell migration and invasion. In this study, we report on RUNX2/ p57 overexpression in 16 patients with primary non-small cell lung cancer and/or metastatic lung cancer associated with H3K27Ac at P1 gene promoter region. In some patients, H3K4Me3 enrichment was also detected, in addition to WDR5, MLL2, MLL4, and UTX enzyme recruitment, members of the COMPASS-LIKE complex. Moreover, transforming growth factor-ß induced RUNX2/ p57 overexpression and specific RUNX2 knockdown supported a role for RUNX2 in epithelial mesenchymal transition, which was demonstrated through loss of function assays in adenocarcinoma A549 lung cancer cell line. Furthermore, RUNX2 increased expression of epithelial mesenchymal transition genes VIMENTIN, TWIST1, and SNAIL1, which reflected increased migratory capacity in lung adenocarcinoma cells.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma Pulmonar de Células não Pequenas/secundário , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Epigênese Genética , Transição Epitelial-Mesenquimal , Neoplasias Pulmonares/patologia , Regiões Promotoras Genéticas , Adulto , Idoso , Idoso de 80 Anos ou mais , Apoptose , Biomarcadores Tumorais/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/metabolismo , Estudos de Casos e Controles , Movimento Celular , Proliferação de Células , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Prognóstico , Células Tumorais CultivadasRESUMO
Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9-SF1.
Assuntos
Receptor Nuclear Órfão DAX-1/genética , Disgenesia Gonadal/genética , Processos de Determinação Sexual/genética , Adolescente , Criança , Receptor Nuclear Órfão DAX-1/metabolismo , Variações do Número de Cópias de DNA , Proteínas de Ligação a DNA/genética , Feminino , Dosagem de Genes/genética , Duplicação Gênica , Disgenesia Gonadal 46 XY/genética , Gonadoblastoma/genética , Humanos , Linhagem , Análise para Determinação do Sexo/métodos , Diferenciação Sexual , Maturidade Sexual/genética , Irmãos , Teratoma , Testículo/anormalidadesRESUMO
BACKGROUND AND AIM: Sleep deprivation (SD) may result in perceptual and cognitive alterations in healthy subjects. Our objective was to compare whether psychoacoustics and neurophysiological variables in healthy subjects were altered after SD of 30-36 h. METHOD: We examined 22 subjects by means of several psychoacoustics tests, P300 and mismatch negativity (MMN) recordings, and brainstem auditory evoked potentials (BAEP) before and after 30-36 h of SD. RESULTS: In the psychoacoustics tests, we found that after SD, difficulties were experienced by the left ear in the discrimination of words in noise and by the right ear in music discrimination. In the neurophysiological tests, we found delayed latencies of P300 and MMN wave; there was a delay of wave I in both ears, and wave V in the right ear in BAEP. We found significant correlations with positive direction between P300 latency and words in noise and music discrimination in the right ear. CONCLUSIONS: SD results in alterations of central auditory processing perception and delays of brain neurophysiological responses, with some correlations between the psychoacoustics and neurophysiological tests. These alterations may relate to other cognitive alterations that deserve more research in future studies.