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1.
Ann Bot ; 131(6): 1025-1037, 2023 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-37148364

RESUMO

BACKGROUND AND AIMS: Studying the relationship between phenotypic and genetic variation in populations distributed across environmental gradients can help us to understand the ecological and evolutionary processes involved in population divergence. We investigated the patterns of genetic and phenotypic diversity in the European crabapple, Malus sylvestris, a wild relative of the cultivated apple (Malus domestica) that occurs naturally across Europe in areas subjected to different climatic conditions, to test for divergence among populations. METHODS: Growth rates and traits related to carbon uptake in seedlings collected across Europe were measured in controlled conditions and associated with the genetic status of the seedlings, which was assessed using 13 microsatellite loci and the Bayesian clustering method. Isolation-by-distance, isolation-by-climate and isolation-by-adaptation patterns, which can explain genetic and phenotypic differentiation among M. sylvestris populations, were also tested. KEY RESULTS: A total of 11.6 % of seedlings were introgressed by M. domestica, indicating that crop-wild gene flow is ongoing in Europe. The remaining seedlings (88.4 %) belonged to seven M. sylvestris populations. Significant phenotypic trait variation among M. sylvestris populations was observed. We did not observe significant isolation by adaptation; however, the significant association between genetic variation and the climate during the Last Glacial Maximum suggests that there has been local adaptation of M. sylvestris to past climates. CONCLUSIONS: This study provides insight into the phenotypic and genetic differentiation among populations of a wild relative of the cultivated apple. This might help us to make better use of its diversity and provide options for mitigating the impact of climate change on the cultivated apple through breeding.


Assuntos
Malus , Malus/genética , Teorema de Bayes , Europa (Continente) , Evolução Biológica , Variação Genética
2.
Eur J Pediatr ; 182(9): 3973-3981, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37368006

RESUMO

Lung ultrasound (LU) has emerged as a valuable tool for assessing pulmonary aeration noninvasively, rapidly, and reliably in different neonatal conditions. However, its role in the preoperative and postoperative evaluation in congenital diaphragmatic hernia (CDH) is still poorly analyzed. We present a cohort of 8 patients diagnosed with CDH who underwent lung ultrasound examinations at various time points before and after surgical correction. The lung ultrasound patterns were compared between two groups: mechanical ventilation ≤ 7 days (MV ≤ 7) and mechanical ventilation > 7 days (MV > 7). The ultrasound findings were also compared to CT scans and chest X-ray images to assess its diagnostic capacity for identifying postoperative complications: pneumothorax, pleural effusion, and pneumonia. Group MV ≤ 7 exhibited a normal pattern even at 48 h postsurgery, while group MV > 7 presented interstitial or alveolointerstitial pattern in both lungs for prolonged periods (2-3 weeks). Furthermore, contralateral LU pattern may be predictive of respiratory evolution.  Conclusion: Lung ultrasound is a valuable tool for evaluating the progressive reaeration of the lung following surgical correction in CDH patients. It demonstrates the ability to diagnose common postoperative complications without the need for radiation exposure while offering the advantages of quick and serial assessments. These findings highlight the potential of lung ultrasound as an effective alternative to conventional imaging methods in the management of CDH. What is Known: • Lung ultrasound evaluates lung aeration and predicts respiratory outcomes in neonatal patients. What is New: • Lung ultrasound is useful in the postsurgical management of congenital diaphragmatic hernia patients, detecting reaeration and respiratory complications.


Assuntos
Hérnias Diafragmáticas Congênitas , Pneumotórax , Recém-Nascido , Humanos , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/cirurgia , Seguimentos , Pulmão/diagnóstico por imagem , Ultrassonografia
3.
Climacteric ; 26(6): 577-582, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37477988

RESUMO

OBJECTIVE: This study aimed to investigate the association between overweight and obesity in postmenopausal women and different aspects related to health such as quality of life, physical activity, sleep quality and level of physical activity. METHODS: An observational cross-sectional study was carried out during 2021-2022 in Spain in postmenopausal women. Health-related quality of life was assessed using the 12-item short-form survey (SF-12). The Pittsburgh Sleep Quality Index (PSQI) was used to determine sleep quality, and the International Physical Activity Validated Questionnaire (IPAQ) was used for physical activity. A multivariate analysis was conducted using binary logistic regression to control the confounding bias. RESULTS: A total of 395 postmenopausal women participated: 64.6% (n = 255) were overweight or obese. Obesity was associated with higher odds of having a lower quality of life (adjusted odds ratio [aOR] = 2.88; 95% confidence interval [CI]: 1.51-5.49), including alterations in physical role and function, pain and vitality. Postmenopausal women with overweight/obesity had higher odds of cardiovascular problems (aOR = 2.09; 95% CI: 1.04-4.19/aOR = 4.44; 95% CI: 2.12-9.31), and women with obesity were more likely to develop endocrine problems (aOR = 2.29; 95% CI: 1.10-4.75). Finally, women with obesity had higher odds of suffering urinary incontinence (aOR = 2.10; 95% CI: 1.10-4.01) or fecal incontinence (aOR = 2.70; 95% CI: 1.35-5.39), and pelvic pain (aOR = 2.33; 95% CI: 1.18-4.59). CONCLUSIONS: Obesity in postmenopausal women negatively affects perceived quality of life, sleep quality, physical activity, the development of cardiovascular problems and pelvic floor-related problems.


Assuntos
Sobrepeso , Qualidade de Vida , Feminino , Humanos , Sobrepeso/complicações , Sobrepeso/epidemiologia , Pós-Menopausa , Estudos Transversais , Obesidade/complicações , Obesidade/epidemiologia
4.
Biochim Biophys Acta Rev Cancer ; 1868(1): 93-108.A, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28254527

RESUMO

Osteopontin (OPN) is an extracellular matrix protein that is overexpressed in various cancers and promotes oncogenic features including cell proliferation, survival, migration, and angiogenesis, among others. OPN can participate in the regulation of the tumor microenvironment, affecting both cancer and neighboring cells. Here, we review the roles of OPN splice variants (a, b, c) in cancer development, progression, and prognosis, and also discuss the identities of isoforms 4 and 5. We also discussed how single-nucleotide polymorphisms (SNPs) of the OPN gene are an additional factor influencing the level of OPN in individuals, modulating the risks of cancer development and outcome.


Assuntos
Neoplasias/genética , Neoplasias/patologia , Osteopontina/genética , Polimorfismo Genético/genética , Splicing de RNA/genética , Sequência de Aminoácidos , Sequência de Bases , Progressão da Doença , Humanos , Prognóstico
5.
Genes Dev ; 26(15): 1679-84, 2012 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-22855830

RESUMO

TDP-43 is a critical RNA-binding factor associated with pre-mRNA splicing in mammals. Its expression is tightly autoregulated, with loss of this regulation implicated in human neuropathology. We demonstrate that TDP-43 overexpression in humans and mice activates a 3' untranslated region (UTR) intron, resulting in excision of the proximal polyA site (PAS) pA(1). This activates a cryptic PAS that prevents TDP-43 expression through a nuclear retention mechanism. Superimposed on this process, overexpression of TDP-43 blocks recognition of pA(1) by competing with CstF-64 for PAS binding. Overall, we uncover complex interplay between transcription, splicing, and 3' end processing to effect autoregulation of TDP-43.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Poli A/metabolismo , Splicing de RNA , RNA Mensageiro/metabolismo , Transcrição Gênica , Processamento Alternativo , Animais , Sequência de Bases , Linhagem Celular , Fator Estimulador de Clivagem/química , Fator Estimulador de Clivagem/metabolismo , Proteínas de Ligação a DNA/genética , Homeostase , Humanos , Íntrons , Camundongos , Dados de Sequência Molecular , Ligação Proteica , Sítios de Splice de RNA , Proteínas de Ligação a RNA/química , Proteínas de Ligação a RNA/metabolismo
6.
J Urol ; 202(4): 742-747, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31163007

RESUMO

PURPOSE: Stage IS testicular cancer is defined by the persistence of elevated serum tumor markers, including α-fetoprotein and/or ß-human chorionic gonadotropin, after orchiectomy without radiological evidence of metastatic disease. Current treatment recommendations include cisplatin based chemotherapy up front but the recommendations are based on limited single center series. MATERIALS AND METHODS: We retrospectively analyzed clinical and pathological characteristics, and long-term outcomes in 110 patients uniformly treated with primary chemotherapy between 1994 and 2016. The primary objective was to evaluate long-term disease-free survival. We also explored factors associated with the need for additional treatment. RESULTS: The elevated prechemotherapy tumor markers were α-fetoprotein in 48% of cases, ß-human chorionic gonadotropin in 14%, and α-fetoprotein and ß-human chorionic gonadotropin in 38%. Median α-fetoprotein and ß-human chorionic gonadotropin values were 71 ng/ml and 80 mIU/ml, respectively. The IGCCCG (International Germ Cell Cancer Collaborative Group) prognostic classification was good in 94% of cases. Mixed nonseminomatous germ cell tumor was found in 78% of cases. Of the patients 103 achieved a complete response to chemotherapy. In 6 patients radiological signs of progressive disease developed during chemotherapy, while 8 experienced relapse after an initial complete response. At a median followup of 108 months 108 patients were alive and disease-free. Five and 10-year disease-free survival rates were 87% and 85%, respectively. The predominance of embryonal carcinoma in the primary tumor was the only factor associated with the probability of needing additional therapy. CONCLUSIONS: Stage IS testicular cancer is more commonly associated with elevated α-fetoprotein, an IGCCCG good prognosis and mixed nonseminomatous germ cell tumor. Treatment with cisplatin based chemotherapy leads to cure in most cases. However, a proportion of patients require the integration of additional therapies, including more frequently when embryonal carcinoma is not predominant.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Embrionário/tratamento farmacológico , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Embrionárias de Células Germinativas/terapia , Orquiectomia , Neoplasias Testiculares/terapia , Adulto , Carcinoma Embrionário/sangue , Carcinoma Embrionário/mortalidade , Quimioterapia Adjuvante/métodos , Gonadotropina Coriônica Humana Subunidade beta/sangue , Intervalo Livre de Doença , Seguimentos , Humanos , Masculino , Recidiva Local de Neoplasia/prevenção & controle , Neoplasias Embrionárias de Células Germinativas/sangue , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias Testiculares/sangue , Neoplasias Testiculares/mortalidade , Testículo/diagnóstico por imagem , Testículo/patologia , Adulto Jovem , alfa-Fetoproteínas/análise
7.
Limnol Oceanogr ; 64(4): 1423-1441, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31598006

RESUMO

Glaciers along the western Antarctic Peninsula are retreating at unprecedented rates, opening up sublittoral rocky substrate for colonization by marine organisms such as macroalgae. When macroalgae are physically detached due to storms or erosion, their fragments can accumulate in seabed hollows, where they can be grazed upon by herbivores or be degraded microbially or be sequestered. To understand the fate of the increasing amount of macroalgal detritus in Antarctic shallow subtidal sediments, a mesocosm experiment was conducted to track 13C- and 15N-labeled macroalgal detritus into the benthic bacterial, meiofaunal, and macrofaunal biomass and respiration of sediments from Potter Cove (King George Island). We compared the degradation pathways of two macroalgae species: one considered palatable for herbivores (the red algae Palmaria decipiens) and other considered nonpalatable for herbivores (the brown algae Desmarestia anceps). The carbon from Palmaria was recycled at a higher rate than that of Desmarestia, with herbivores such as amphipods playing a stronger role in the early degradation process of the Palmaria fragments and the microbial community taking over at a later stage. In contrast, Desmarestia was more buried in the subsurface sediments, stimulating subsurface bacterial degradation. Macrofauna probably relied indirectly on Desmarestia carbon, recycled by bacteria and microphytobenthos. The efficient cycling of the nutrients and carbon from the macroalgae supports a positive feedback loop among bacteria, microphytobenthos, and meiofaunal and macrofaunal grazers, resulting in longer term retention of macroalgal nutrients in the sediment, hence creating a food bank for the benthos.

8.
Dis Aquat Organ ; 124(2): 117-129, 2017 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-28425425

RESUMO

Reared Senegalese sole Solea senegalensis Kaup show a high incidence of vertebral anomalies; however, little is known about its skeletal anomaly profile in the later farming phases. The purpose of this study was to provide a detailed description and quantification of the most common skeletal anomalies in reared Senegalese sole in the juvenile stage by means of computed radiography. A total of 374 Senegalese sole were classified according to the external morphology of the fish as normal or altered and then radiographed in latero-lateral and in dorso-ventral projections. Radiographic evaluation of anomalies focused especially on vertebral body anomalies (VBA) and vertebral column deviations (VCD). The 2 orthogonal projections provided a more complete visualization of the skeleton. Approximately 75% of the individuals showed at least 1 anomaly, while VBA and/or VCD were detected in 48.9% of the specimens. Regarding external morphology, 88% of the fish were categorized as normal, although about 72% of these normal fish displayed abnormalities in radiographies. The most frequent anomalies consisted of deformations of the caudal complex plates (hypurals, parhypural and epural), preurals and caudal vertebrae. Scoliosis was the most prevalent among VCD, affecting the caudal area in almost 15% of the individuals. The anomaly profile at the juvenile stages showed some differences compared to what has been reported previously in earlier stages of development. In light of these results, further investigation into the progression of skeletal anomalies over time and the causative factors at later stages is required.


Assuntos
Doenças do Desenvolvimento Ósseo/veterinária , Doenças dos Peixes/diagnóstico por imagem , Linguados/anormalidades , Coluna Vertebral/anormalidades , Animais , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem
9.
J Fish Dis ; 40(8): 987-1000, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28000918

RESUMO

Senegalese sole (Solea senegalensis, Kaup) is a promising flatfish species in aquaculture. However, skeletal anomalies are still a great concern in sole farming. Investigation of this issue is crucial to improving larval quality and optimizing production. The aim of this study was to thoroughly assess anomalies in the rachis of reared sole at early developmental stages. Sole (n = 507) were sampled at 31 or 32 days after hatching (dah). The specimens were stained with alcian blue and alizarin red and evaluated for the detection of vertebral deformities. Most fish presented 9:34:3 vertebrae in abdominal, caudal and caudal complex regions, respectively. Remarkably, all specimens showed at least one spinal anomaly. Alterations of neural/haemal elements, as well as deformities of hypurals, parhypural and epural, were recurrent. Vertebral body anomalies and/or vertebral column deviations were identified in 52% of the individuals. Vertebral deformations and fusions were common, especially in caudal complex. 'Minor' anomalies were predominant, and some of the detected disorders might be a result of non-/low-pathological processes. These results contribute a new insight into the main skeletal anomalies affecting cultured sole larvae. Further research is required to determine their impact on fish welfare and external appearances at commercial stages.


Assuntos
Doenças dos Peixes/congênito , Linguados/anormalidades , Doenças da Coluna Vertebral/veterinária , Coluna Vertebral/anormalidades , Animais , Aquicultura , Doenças da Coluna Vertebral/congênito
10.
Nucleic Acids Res ; 42(5): 3362-71, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24369426

RESUMO

TDP-43 is a nuclear protein involved in many aspects of RNA metabolism. To ensure cellular viability, its expression levels within cells must be tightly regulated. We have previously demonstrated that TDP-43 autoregulation occurs through the activation of a normally silent intron in its 3'-UTR sequence that results in the use of alternative polyadenylation sites. In this work, we analyse which is the dominant event in autoregulation: the recognition of the splice sites of 3'-UTR intron 7 or the intrinsic quality of the alternative polyadenylation sites. A panel of minigene constructs was tested for autoregulation functionality, protein production and subcellular messenger RNA localization. Our data clearly indicate that constitutive spliceosome complex formation across intron 7 does not lead to high protein production but, on the contrary, to lower TDP-43 messenger RNA and protein levels. This is due to altered nucleocytoplasmic distribution of the RNA that is mostly retained in the nucleus and degraded. This study provides a novel in-depth characterization of how RNA binding proteins can autoregulate their own levels within cells, an essential regulatory process in maintaining cellular viability.


Assuntos
Proteínas de Ligação a DNA/genética , Poliadenilação , Splicing de RNA , Proteínas de Ligação a RNA/genética , Núcleo Celular/metabolismo , Citoplasma/metabolismo , Proteínas de Ligação a DNA/metabolismo , Células HEK293 , Homeostase , Humanos , Íntrons , Sítios de Splice de RNA , Transporte de RNA , RNA Mensageiro/metabolismo , Proteínas de Ligação a RNA/metabolismo , Spliceossomos/metabolismo
11.
Enferm Intensiva ; 27(4): 155-167, 2016.
Artigo em Espanhol | MEDLINE | ID: mdl-26803376

RESUMO

INTRODUCTION: Safe analgesia and sedation strategies are necessary in order to avoid under or over sedation, as well as improving the comfort and safety of critical care patients. OBJECTIVES: To compare and contrast a multidisciplinary protocol of systematic evaluation and management of analgesia and sedation in a group of critical care patients on mechanical ventilation with the usual procedures. MATERIALS AND METHODS: A cohort study with contemporary series was conducted in a tertiary care medical-surgical ICU February to November during 2013 and 2014. The inclusion criteria were mechanical ventilation ≥ 24h and use of sedation by continuous infusion. Sedation was monitored using the Richmond agitation-sedation scale or bispectral index, and analgesia were measured using the numeric rating scale, or behavioural indicators of pain scale. The study variables included; mechanical ventilation time, weaning time, ventilation support time, artificial airway time, continuous sedative infusion time, daily dose and frequency of analgesic and sedative drug use, hospital stay, and ICU and hospital mortality, Richmond agitation-sedation scale, bispectral index, numeric rating scale, and behavioural indicators of pain scale measurements. Kruskal Wallis and Chi2, and a significance of p<.05 were used. RESULTS: The study included 153 admissions, 75 pre-intervention and 78 post-intervention, with a mean age of 55.7±13 years old, and 67% men. Both groups showed similarities in age, reason for admission, and APACHE. There were non-significant decreases in mechanical ventilation time 4 (1.4-9.2) and 3.2 (1.4-8.1) days, respectively; p= 0.7, continuous sedative infusion time 6 (3-11) and 5 (3-11) days; p= 0.9, length of hospital stay 29 (18-52); 25 (14-41) days; p= 0.1, ICU mortality (8 vs. 5%; p= 0.4), and hospital mortality (10.6 vs. 9.4%: p= 0.8). Daily doses of midazolam and remifentanil decreased 347 (227-479) mg/day; 261 (159-358) mg/day; p= 0.02 and 2175 (1427-3285) mcg/day; 1500 (715-2740) mcg/day; p= 0.02, respectively. There were increases in the use of remifentanil (32% vs. 51%; p= 0.01), dexmedetomidine (0 vs.6%; p= 0.02), dexketoprofen (60 vs. 76%; p= 0.03), and haloperidol (15 vs.28%; p= 0.04). The use of morphine decreased (71 vs. 54%; p= 0.03). There was an increase in the number of measurements and Richmond agitation-sedation scale scores 6 (3-17); 21 (9-39); p< 0.0001, behavioural indicators of pain scale 6 (3-18); 19(8-33); p< 0.001 and numeric rating scale 4 (2-6); 8 (6-17); p< 0.0001. CONCLUSIONS: The implementation of a multidisciplinary protocol of systematic evaluation of analgesia and sedation management achieved an improvement in monitoring and adequacy of dose to patient needs, leading to improved outcomes.


Assuntos
Analgesia , Sedação Consciente , Sedação Profunda , Respiração Artificial , Estudos de Coortes , Estado Terminal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento
12.
Med Intensiva ; 40(8): 483-490, 2016 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27017441

RESUMO

OBJECTIVE: To improve critical patient safety in the prevention of venous thromboembolic disease, using failure mode and effects analysis as safety tool. DESIGN: A contemporaneous cohort study covering the period January 2014-March 2015 was made in 4 phases: phase 1) prior to failure mode and effects analysis; phase 2) conduction of mode analysis and implementation of the detected improvements; phase 3) evaluation of outcomes, and phase 4) (post-checklist introduction impact. SETTING: Patients admitted to the adult polyvalent ICU of a third-level hospital center. PATIENTS: A total of 196 patients, older than 18 years, without thromboembolic disease upon admission to the ICU and with no prior anticoagulant treatment. INTERVENTIONS: A series of interventions were implemented following mode analysis: training, and introduction of a protocol and checklist to increase preventive measures in relation to thromboembolic disease. VARIABLES OF INTEREST: Indication and prescription of venous thrombosis prevention measures before and after introduction of the measures derived from the failure mode and effects analysis. RESULTS: A total of 59, 97 and 40 patients were included in phase 1, 3 and 4, respectively, with an analysis of the percentage of subjects who received thromboprophylaxis. The failure mode and effects analysis was used to detect potential errors associated to a lack of training and protocols referred to thromboembolic disease. An awareness-enhancing campaign was developed, with staff training and the adoption of a protocol for the prevention of venous thromboembolic disease. The prescription of preventive measures increased in the phase 3 group (91.7 vs. 71.2%, P=.001). In the post-checklist group, prophylaxis was prescribed in 97.5% of the patients, with an increase in the indication of dual prophylactic measures (4.7, 6.7 and 41%; P<.05). There were no differences in complications rate associated to the increase in prophylactic measures. CONCLUSIONS: The failure mode and effects analysis allowed us to identify improvements in the prevention of thromboembolic disease in critical patients. We therefore consider that it may be a useful tool for improving patient safety in different processes.


Assuntos
Análise do Modo e do Efeito de Falhas na Assistência à Saúde , Trombose Venosa , Anticoagulantes , Lista de Checagem , Estudos de Coortes , Cuidados Críticos , Hospitalização , Humanos
13.
EMBO J ; 30(2): 277-88, 2011 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-21131904

RESUMO

TAR DNA-binding protein (TDP-43) is an evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) involved in RNA processing, whose abnormal cellular distribution and post-translational modification are key markers of certain neurodegenerative diseases, such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration. We generated human cell lines expressing tagged forms of wild-type and mutant TDP-43 and observed that TDP-43 controls its own expression through a negative feedback loop. The RNA-binding properties of TDP-43 are essential for the autoregulatory activity through binding to 3' UTR sequences in its own mRNA. Our analysis indicated that the C-terminal region of TDP-43, which mediates TDP-43-hnRNP interactions, is also required for self-regulation. TDP-43 binding to its 3' UTR does not significantly change the pre-mRNA splicing pattern but promotes RNA instability. Moreover, blocking exosome-mediated degradation partially recovers TDP-43 levels. Our findings demonstrate that cellular TDP-43 levels are under tight control and it is likely that disease-associated TDP-43 aggregates disrupt TDP-43 self-regulation, thus contributing to pathogenesis.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Retroalimentação Fisiológica/fisiologia , Regulação da Expressão Gênica/genética , Processamento Pós-Transcricional do RNA/genética , RNA Mensageiro/metabolismo , Sequência de Bases , Northern Blotting , Linhagem Celular , Proteínas de Ligação a DNA/genética , Biblioteca Gênica , Humanos , Immunoblotting , Imunoprecipitação , Dados de Sequência Molecular , Plasmídeos/genética , Reação em Cadeia da Polimerase , Interferência de RNA , Análise de Sequência de DNA
14.
Eur J Clin Microbiol Infect Dis ; 34(2): 385-93, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25236396

RESUMO

Interleukin-7 (IL-7) is a critical factor in maintaining or inducing effective antiviral CD4+ and CD8+ T-cell responses. The aim of this study was to examine the association of interleukin-7 receptor-α (IL7RA) polymorphisms with a sustained virologic response (SVR) after hepatitis C virus (HCV) therapy with pegylated interferon-alpha plus ribavirin (pegIFNα/ribavirin) in 177 human immunodeficiency virus (HIV)/HCV-coinfected patients. We performed a retrospective study in 177 naïve patients who started HCV treatment. The IL7RA rs6897932, rs987106, and rs3194051 polymorphisms were genotyped by the GoldenGate® assay. An SVR was defined as undetectable HCV viral load through 24 weeks after the end of HCV treatment. The highest SVR rate was found in patients with the rs6897932 CC (p = 0.029) and rs3194051 GG (p = 0.002) genotypes, and HCV genotypes 2/3 (GT2/3) infected patients with the rs987106 AA genotype (p = 0.048). Additionally, carriers of the rs3194051 GG genotype had a higher likelihood of achieving an SVR [adjusted odds ratio (aOR) = 5.32; 95 % confidence interval (CI) = 1.07-26.94; p = 0.040] than patients with the rs3194051 AA/AG genotype, while rs6897932 CC (aOR = 0.63; p = 0.205) and rs987106 AA (aOR = 0.60; p = 0.213) were not significant. Moreover, three major haplotypes were found: 46.6 % for CTA, 32.4 % for CAG, and 20.7 % for TAA haplotypes. Patients infected with GT2/3 and carriers of the CTA haplotype had lower odds of achieving an SVR (aOR = 0.08; p = 0.004) and the CAG haplotype (favorable alleles) had higher odds of achieving an SVR than other haplotypes (aOR = 21.96; p < 0.001). IL7RA polymorphisms seem to play a significant role in the virological response to pegIFNα/ribavirin therapy in HIV/HCV-coinfected patients, in particular among patients infected with HCV GT2/3.


Assuntos
Antivirais/uso terapêutico , Infecções por HIV/tratamento farmacológico , Hepacivirus/efeitos dos fármacos , Hepatite C/tratamento farmacológico , Interleucina-7/genética , Polimorfismo Genético , Adulto , Alelos , Coinfecção , Quimioterapia Combinada , Feminino , Genótipo , Infecções por HIV/virologia , Haplótipos , Hepatite C/virologia , Humanos , Interferon alfa-2 , Interferon-alfa/uso terapêutico , Masculino , Razão de Chances , Polietilenoglicóis/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Estudos Retrospectivos , Ribavirina/uso terapêutico
15.
Neurologia ; 30(4): 240-6, 2015 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-22658456

RESUMO

INTRODUCTION: People have been interested in movement analysis in general, and gait analysis in particular, since ancient times. Aristotle, Hippocrates, Galen, Leonardo da Vinci and Honoré de Balzac all used observation to analyse the gait of human beings. The purpose of this study is to compare Honoré de Balzac's writings with a scientific analysis of human gait. SOURCES: Honoré de Balzac's Theory of walking and other works by that author referring to gait. DEVELOPMENT: Honoré de Balzac had an interest in gait analysis, as demonstrated by his descriptions of characters which often include references to their way of walking. He also wrote a treatise entitled Theory of walking (Théorie de la demarche) in which he employed his keen observation skills to define gait using a literary style. He stated that the walking process is divided into phases and listed the factors that influence gait, such as personality, mood, height, weight, profession and social class, and also provided a description of the correct way of walking. CONCLUSIONS: Balzac considered gait analysis to be very important and this is reflected in both his character descriptions and Theory of walking, his analytical observation of gait. In our own technology-dominated times, this serves as a reminder of the importance of observation.


Assuntos
Marcha , Literatura Moderna/história , Medicina na Literatura , Pessoas Famosas , Marcha/fisiologia , História do Século XIX , Ciências Humanas/história , Humanos , Masculino , Caminhada/história
16.
Neurologia ; 29(7): 433-40, 2014 Sep.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-21889823

RESUMO

INTRODUCTION: Medicine and literature have been linked from ancient times; proof of this shown by the many doctors who have made contributions to literature and the many writers who have described medical activities and illnesses in their works. An example is The Egyptian, the book by Mika Waltari that provides a masterly narration of the protagonist's medical activity and describes the trepanation technique. DEVELOPMENT: The present work begins with the analysis of trepanations since prehistory and illustrates the practice of the trepanation in The Egyptian. The book mentions trepanation frequently and illustrates how to practice it and which instruments are required to perform it. Trepanation is one of the oldest surgical interventions carried out as treatment for cranial trauma and neurological diseases, but it also had the magical and religious purpose of expelling the evil spirits which caused the mental illness, epilepsy, or migraine symptoms. CONCLUSIONS: Trepanation is a surgical practice that has been carried out since prehistory to treat post-traumatic epilepsy, migraine, and psychiatric illness. The Egyptian is a book that illustrates the trepan, the trepanation technique, and the required set of instruments in full detail.


Assuntos
Literatura Moderna/história , Medicina na Literatura , Crânio/cirurgia , Trepanação/história , Traumatismos Craniocerebrais/história , Traumatismos Craniocerebrais/cirurgia , História do Século XX , História Antiga , Humanos , Crânio/anatomia & histologia
17.
Arch Soc Esp Oftalmol (Engl Ed) ; 99(6): 248-251, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38309660

RESUMO

Intrastromal antibiotic injections are a type of treatment that can be very useful in bacterial keratitis refractory to topical antibiotics. We present the case of a 44-year-old woman with an infiltrate in a laser in situ keratomiuleusis (LASIK) flap and growth of Achromobacter xylosoxidans, who was treated with topical ceftazidime for 1 month. However, after discontinuation of the antibiotic, there was a worsening with growth of the same germ. Topical treatment was reintroduced and, due to suspicion of germ reservoir, it was decided to give three cycles of intrastromal ceftazidime injections, the last one also with moxifloxacin, with good results. After 4 months asymptomatic and without treatment at the moment, no signs of recurrence have been observed. This case supports the usefulness of intraestromal injections in refractory cases to the topical medication.


Assuntos
Achromobacter denitrificans , Antibacterianos , Ceftazidima , Infecções por Bactérias Gram-Negativas , Ceratomileuse Assistida por Excimer Laser In Situ , Retalhos Cirúrgicos , Humanos , Feminino , Adulto , Achromobacter denitrificans/isolamento & purificação , Infecções por Bactérias Gram-Negativas/tratamento farmacológico , Antibacterianos/uso terapêutico , Antibacterianos/administração & dosagem , Ceratomileuse Assistida por Excimer Laser In Situ/efeitos adversos , Ceftazidima/uso terapêutico , Ceftazidima/administração & dosagem , Moxifloxacina/uso terapêutico , Moxifloxacina/administração & dosagem , Infecções Oculares Bacterianas/tratamento farmacológico , Ceratite/tratamento farmacológico , Ceratite/microbiologia , Substância Própria , Complicações Pós-Operatórias/tratamento farmacológico , Fluoroquinolonas/uso terapêutico , Fluoroquinolonas/administração & dosagem
18.
Rev Neurol ; 79(3): 77-88, 2024 Aug 01.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-39007859

RESUMO

INTRODUCTION: The use of YouTube® has spread among patients with chronic diseases such as multiple sclerosis (MS). These patients consult the available videos to learn more about their disease in terms of diagnosis and making decisions about treatments, including rehabilitation. The aim of this study was to evaluate the content, educational value, and quality analysis of MS videos about neurorehabilitation on YouTube® using quantitative instruments. MATERIALS AND METHODS: A search was conducted on YouTube®. The first 30 videos that met the inclusion criteria were reviewed. The videos were classified according to the upload source and the content. All videos included in the review were assessed by the DISCERN questionnaire, the JAMA benchmark, the global quality scale (GQS) and the video information and quality index (VIQI). RESULTS: The mean scores were: 28.3 (±9.33) in DISCERN, 2 (±0.81) in JAMA, 2.57 (±1.22) in GQS, and 11.73 (±4.06) in VIQI. JAMA score statistically significantly differed according to upload source (p = 0.002), video content (p = 0.023) and the speaker (p = 0.002). The DISCERN, JAMA, GQS, and VIQI scores showed significant correlations with each other. CONCLUSIONS: The analyzed videos about neurorehabilitation in people with MS on YouTube® were quite old since the upload, with a moderate duration and number of views, but with a poor quality of the content, educational value, and quality analysis of the videos. Our research showed that there were statistically significant differences in terms of quality, transparency, and reliability of the information, depending on the upload source, video content and the speaker.


TITLE: Análisis de contenido, valor educativo y calidad de los vídeos sobre neurorrehabilitación de la esclerosis múltiple en YouTube®.Introducción. El uso de YouTube® se ha extendido entre los pacientes con enfermedades crónicas como la esclerosis múltiple (EM). Estos pacientes tienden a consultar los vídeos disponibles para aprender más sobre su enfermedad, en términos de diagnóstico y toma de decisiones sobre tratamientos, incluida la rehabilitación. El objetivo de este estudio fue evaluar el contenido, el valor educativo y el análisis de la calidad de los vídeos sobre neurorrehabilitación de la EM en la plataforma YouTube®, empleando instrumentos cuantitativos validados. Materiales y métodos. Se realizó una búsqueda en la plataforma YouTube®. Se revisaron los 30 primeros vídeos que cumplían los criterios de inclusión establecidos. Los vídeos se clasificaron según la fuente de subida y el contenido. Todos los vídeos incluidos en la revisión se evaluaron mediante el cuestionario DISCERN, el índice de referencia JAMA, la escala de calidad global (GQS) y el índice de información y calidad de vídeo (VIQI). Resultados. Las puntuaciones medias fueron: 28,3 (±9,33) en DISCERN, 2 (±0,81) en JAMA, 2,57 (±1,22) en GQS y 11,73 (±4,06) en VIQI. La puntuación en la escala JAMA difirió de forma estadísticamente significativa según la fuente de carga (p = 0,002), el contenido del vídeo (p = 0,023) y el perfil de la persona que lo ejecutaba (p = 0,002). Las puntuaciones en DISCERN, JAMA, GQS y VIQI mostraron correlaciones significativas entre sí. Conclusiones. Los vídeos analizados sobre neurorrehabilitación en personas con EM y que aparecen en la plataforma YouTube® eran bastante antiguos desde su fecha de subida, con una duración y un número de visualizaciones moderados, y con una calidad deficiente en su contenido, en su valor educativo y en el propio análisis de los mismos. Nuestra investigación mostró que había diferencias estadísticamente significativas en términos de calidad, transparencia y fiabilidad de la información, dependiendo de la fuente de subida, el contenido del vídeo y el perfil de la persona que lo ejecutaba.


Assuntos
Esclerose Múltipla , Reabilitação Neurológica , Mídias Sociais , Gravação em Vídeo , Esclerose Múltipla/reabilitação , Humanos , Reabilitação Neurológica/métodos , Educação de Pacientes como Assunto
19.
Artigo em Inglês | MEDLINE | ID: mdl-39033039

RESUMO

Acute liver failure is a rare but serious syndrome, with an incidence of approximately 2,000 to 3,000 cases per year in North America. Its pathophysiology and clinical course vary, depending on the cause of the primary liver injury, and can lead to high morbidity and mortality or the need for liver transplantation, despite available therapies. This syndrome involves excessive activation of the immune system, with damage in other organs, contributing to its high mortality rate. The most accepted definition includes liver injury with hepatic encephalopathy and coagulopathy within the past 26 weeks in a patient with no previous liver disease. The main causes are paracetamol poisoning, viral hepatitis, and drug-induced liver injury, among others. Identifying the cause is crucial, given that it influences prognosis and treatment. Survival has improved with supportive measures, intensive therapy, complication prevention, and the use of medications, such as N-acetylcysteine. Liver transplantation is a curative option for nonresponders to medical treatment, but adequate evaluation of transplantation timing is vital for improving results. Factors such as patient age, underlying cause, and severity of organ failure influence the post-transplant outcomes and survival.

20.
Hernia ; 27(6): 1607-1610, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37548798

RESUMO

INTRODUCTION: Post-inguinal pain after a hernia surgery is prevalent and can be quite frustrating for the surgeon and patient alike. There are several sources for possible post-operative inguinal pain after a successful hernia repair; however, in the setting where a recurrent inguinal hernia is not present, it is likely related to the nerves in the inguinal canal or pelvis. Chronic inguinal groin pain after hernia repairs have been reported in a high percentage of patients following inguinal hernia surgery despite being one of the most common procedures performed annually in the USA and worldwide. MATERIALS AND METHODS: We present ten of the basic concepts utilized by peripheral nerve surgeons to limit nerve injury, which can easily be applied to open inguinal hernia surgery with or without mesh, starting with the firm understanding of the inguinal anatomy to addressing the nerves, meticulous placement of the mesh and the active revision of the surrounding structures and nerve position before closure. CONCLUSIONS: Understanding the proper handling of the inguinal nerves during hernia surgery can decrease the incidence of post-operative chronic pain by employing microsurgical concepts to day-to-day surgical procedures and prevent complications in an extensive set of patients.


Assuntos
Dor Crônica , Hérnia Inguinal , Humanos , Hérnia Inguinal/complicações , Virilha/cirurgia , Herniorrafia/efeitos adversos , Herniorrafia/métodos , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle , Dor Pós-Operatória/cirurgia , Nervos Periféricos/cirurgia , Dor Crônica/etiologia , Dor Crônica/prevenção & controle , Telas Cirúrgicas/efeitos adversos
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