154 research outputs found
Depressão em pacientes com doença pulmonar obstrutiva crÎnica: uma breve revisão integrativa da literatura
Introduction: Chronic Obstructive Pulmonary Disease (COPD) is a disease characterized by persistent or partially reversible air level obstruction associated with comorbidities. It is a preventable disease and little associated with genetic deficiency. A number of factors increase COPD incidence, such as environmental and occupational pollution, smoking and the delay in implementing public policies aimed at prevention. Objective: The propose of this work was to perform a comprehensive study about recurrent lung disease and understand the impacts on the life quality of people with COPD through an integrative literature review. Methods: The following data sources were searched between 2011 to 2021: Scielo, PubMed, Medline, UpToDate and Google Scholar and the health descriptors (DECS) were anxiety, depression. quality of life and Chronic obstructive pulmonary disease. Results: After careful review of the research, the number of article selected in this review was five and the process used to narrow down the study relevance to COPD in the life quality. Conclusion: Upon concluding the literature review, we found that COPD is a disabling lung disease that affects the patient's daily life and the majority of the patients showed severe levels of anxiety with a predominance of moderate levels of depression. Therefore, the research conducted aimed to contribute to the medical community in the diagnosis, clinical and laboratory characteristics of COPD. In addition to elucidating treatments and the best practices to be followed by health professionals. Future studies may relate the involvement family caregivers on the improving outcomes of the patients with COPD.Introdução: A Doença Pulmonar Obstrutiva CrĂŽnica (DPOC) Ă© uma enfermidade caracterizada pela obstrução do nĂvel aĂ©reo persistente ou parcialmente reversĂvel associados a comorbidades. Ă uma doença evitĂĄvel e pouco associada Ă deficiĂȘncia genĂ©tica. Diversos fatores aumentam a sua incidĂȘncia, como poluição ambiental e ocupacional, tabagismo e a demora de implementação das polĂticas pĂșblicas visando a prevenção. Objetivo: Compreender os impactos na qualidade de vida dos portadores de DPOC, analisar e compilar conteĂșdos de conhecimentos cientĂficos que discorram sobre a temĂĄtica investigada. MĂ©todos: Este artigo Ă© uma revisĂŁo integrativa sobre DPOC e foi realizada por meio de consulta das publicaçÔes indexadas no banco de dados eletrĂŽnicos: Scielo, PubMed, Medline, UpToDate e o Google AcadĂȘmico no perĂodo de 2011 a 2021 com os descritores em saĂșde: Ansiedade; DepressĂŁo; Qualidade de vida, DPOC. Resultados: ApĂłs anĂĄlise minuciosa, cinco artigos foram selecionados, o processo utilizado para a selecionar os artigos foi a relevĂąncia da COPD na qualidade de vida do paciente. ConclusĂŁo: A DPOC Ă© uma pneumopatia incapacitante que repercute no cotidiano, a maioria dos pacientes foi classificada com nĂvel grave de ansiedade e nĂveis moderados de depressĂŁo. Esse trabalho visa despertar a atenção e contribuir com a comunidade mĂ©dica no diagnĂłstico, na descrição das caracterĂsticas clĂnicas e laboratoriais da DPOC, alĂ©m de elucidar sobre tratamentos e melhores condutas a serem seguidas pelos profissionais da saĂșde. Pesquisas futuras poderĂŁo ser propostas a fim de investigar os efeitos do envolvimento de cuidadores familiares na melhor recuperação dos pacientes com DPOC
The âHypertension Approaches in the Elderly: a Lifestyle studyâ multicenter, randomized trial (HAEL Study): rationale and methodological protocol
Background: Hypertension is a clinical condition highly prevalent in the elderly, imposing great risks to
cardiovascular diseases and loss of quality of life. Current guidelines emphasize the importance of
nonpharmacological strategies as a first-line approach to lower blood pressure. Exercise is an efficient lifestyle tool
that can benefit a myriad of health-related outcomes, including blood pressure control, in older adults. We herein
report the protocol of the HAEL Study, which aims to evaluate the efficacy of a pragmatic combined exercise
training compared with a health education program on ambulatory blood pressure and other health-related
outcomes in older individuals.
Methods: Randomized, single-blinded, multicenter, two-arm, parallel, superiority trial.
A total of 184 subjects (92/center), â„60 years of age, with no recent history of cardiovascular events, will be
randomized on a 1:1 ratio to 12-week interventions consisting either of a combined exercise (aerobic and
strength) training, three times per week, or an active-control group receiving health education intervention,
once a week. Ambulatory (primary outcome) and office blood pressures, cardiorespiratory fitness and
endothelial function, together with quality of life, functional fitness and autonomic control will be measured
in before and after intervention.
Discussion: Our conceptual hypothesis is that combined training intervention will reduce ambulatory blood
pressure in comparison with health education group. Using a superiority framework, analysis plan prespecifies
an intention-to-treat approach, per protocol criteria, subgroups analysis, and handling of missing data. The
trial is recruiting since September 2017. Finally, this study was designed to adhere to data sharing practices.
Trial registration: NCT03264443. Registered on 29 August, 2017
Evaluation of SHOX defects in the era of nextâgeneration sequencing
Short stature homeobox (SHOX) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of SHOX mutations continues to be performed using standard methods, including multiplex ligationâdependent probe amplification (MLPA) followed by Sanger sequencing. We designed a targeted panel of genes associated with growth impairment, including SHOX genomic and enhancer regions, to improve the resolution of nextâgeneration sequencing for SHOX analysis. We used two software packages, CONTRA and Nexus Copy Number, in addition to visual analysis to investigate the presence of copy number variants (CNVs). We evaluated 15 patients with previously known SHOX defects, including point mutations, deletions and a duplication, and 77 patients with idiopathic short stature (ISS). The panel was able to confirm all known defects in the validation analysis. During the prospective evaluation, we identified two new partial SHOX deletions (one detected only by visual analysis), including an intragenic deletion not detected by MLPA. Additionally, we were able to determine the breakpoints in four cases. Our results show that the designed panel can be used for the molecular investigation of patients with ISS, and it may even detect CNVs in SHOX and its enhancers, which may be present in a significant fraction of patients.Copy number variants analyses and Sanger sequencing of breakpoint regions in Case 11, which has a heterozygous deletions involving exons 4, 5, and 6a of short stature homeobox (SHOX).Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/151254/1/cge13587.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/151254/2/CGE_13587-sup-0001-Supinfo.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/151254/3/cge13587_am.pd
The Echinococcus canadensis (G7) genome: A key knowledge of parasitic platyhelminth human diseases
Background: The parasite Echinococcus canadensis (G7) (phylum Platyhelminthes, class Cestoda) is one of the causative agents of echinococcosis. Echinococcosis is a worldwide chronic zoonosis affecting humans as well as domestic and wild mammals, which has been reported as a prioritized neglected disease by the World Health Organisation. No genomic data, comparative genomic analyses or efficient therapeutic and diagnostic tools are available for this severe disease. The information presented in this study will help to understand the peculiar biological characters and to design species-specific control tools. Results: We sequenced, assembled and annotated the 115-Mb genome of E. canadensis (G7). Comparative genomic analyses using whole genome data of three Echinococcus species not only confirmed the status of E. canadensis (G7) as a separate species but also demonstrated a high nucleotide sequences divergence in relation to E. granulosus (G1). The E. canadensis (G7) genome contains 11,449 genes with a core set of 881 orthologs shared among five cestode species. Comparative genomics revealed that there are more single nucleotide polymorphisms (SNPs) between E. canadensis (G7) and E. granulosus (G1) than between E. canadensis (G7) and E. multilocularis. This result was unexpected since E. canadensis (G7) and E. granulosus (G1) were considered to belong to the species complex E. granulosus sensu lato. We described SNPs in known drug targets and metabolism genes in the E. canadensis (G7) genome. Regarding gene regulation, we analysed three particular features: CpG island distribution along the three Echinococcus genomes, DNA methylation system and small RNA pathway. The results suggest the occurrence of yet unknown gene regulation mechanisms in Echinococcus. Conclusions: This is the first work that addresses Echinococcus comparative genomics. The resources presented here will promote the study of mechanisms of parasite development as well as new tools for drug discovery. The availability of a high-quality genome assembly is critical for fully exploring the biology of a pathogenic organism. The E. canadensis (G7) genome presented in this study provides a unique opportunity to address the genetic diversity among the genus Echinococcus and its particular developmental features. At present, there is no unequivocal taxonomic classification of Echinococcus species; however, the genome-wide SNPs analysis performed here revealed the phylogenetic distance among these three Echinococcus species. Additional cestode genomes need to be sequenced to be able to resolve their phylogeny.Fil: Maldonado, Lucas Luciano. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; ArgentinaFil: Assis, Juliana. FundaciĂłn Oswaldo Cruz; BrasilFil: Gomes AraĂșjo, FlĂĄvio M.. FundaciĂłn Oswaldo Cruz; BrasilFil: Salim, Anna C. M.. FundaciĂłn Oswaldo Cruz; BrasilFil: Macchiaroli, Natalia. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; ArgentinaFil: Cucher, Marcela Alejandra. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; ArgentinaFil: Camicia, Federico. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; ArgentinaFil: Fox, Adolfo. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; ArgentinaFil: Rosenzvit, Mara Cecilia. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; ArgentinaFil: Oliveira, Guilherme. Instituto TecnolĂłgico Vale; Brasil. FundaciĂłn Oswaldo Cruz; BrasilFil: Kamenetzky, Laura. Consejo Nacional de Investigaciones CientĂficas y TĂ©cnicas. Oficina de CoordinaciĂłn Administrativa Houssay. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones en MicrobiologĂa y ParasitologĂa MĂ©dica; Argentin
An oxalate-bridged oxidovanadium(iv) binuclear complex that improves the in vitro cell uptake of a fluorescent glucose analog
The centrosymmetric oxidovanadium(IV) complex (Et 3NH) 2[{VO(OH 2)(ox)} 2(ÎŒâox)] (I), where ox 2â = oxalate, was synthesized and characterized by X-ray diffraction (single-crystal and powder, PXRD), thermogravimetric (TGA), magnetic susceptibility (at room temperature) and spectroscopic analyses (infrared, Raman and electron paramagnetic resonance, EPR, spectroscopies). In the solid state, each vanadium center is coordinated by the oxygen atoms of a bis-bidentate oxalate bridging ligand, a terminal oxalate, an oxo group and one water molecule. The electronic structure of the binuclear complex was investigated by density functional theory (DFT) calculations, both in vacuum and in a simulated aqueous environment, employing the ÏB97XD functional and the def2TZVP basis set. The cytotoxicity of I was evaluated in vitro in the human hepatocellular carcinoma cell line HepG2, giving an IC 50 value of 15.67 ”mol L â1 after incubation for 24 h. The EPR analysis of I in aqueous solution suggested the maintenance of the binuclear structure, while in the hyperglycemic medium DMEM the complex suffers dissociation to give a mononuclear oxidovanadium(IV) species. HepG2 cell treatment with 0.10 and 0.50 ”mol L â1 of I in DMEM increased 2-NBDG (2-[N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino]-2-deoxy-D-glucose) uptake significantly (up to 91% as compared to HepG2 in hyperglycemic condition, 59%). These results indicate a promising activity of I to be investigated further in additional antidiabetic studies
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Aim: Congenital hypopituitarism has an incidence of 1:3500â10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of hypopituitarism poses difficulties to select the order of genes to analyse. The objective of our study is to screen hypopituitarism genes (candidate and previously related genes) simultaneously using a target gene panel in patients with congenital hypopituitarism.
Methods: Screening of 117 subjects with congenital hypopituitarism for pathogenic variants in 26 genes associated with congenital hypopituitarism by massively parallel sequencing using a customized target gene panel.
Results: We found three novel pathogenic variants in OTX2 c.295C>T:p.Gln99*, GLI2 c.1681G>T:p.Glu561* and GHRHR c.820_821insC:p.Asp274Alafs*113, and the previously reported variants in GHRHR c.57+1G>A and PROP1 [c.301_302delAG];[c.109+1G>A].
Conclusions: Our results indicate that a custom-designed panel is an efficient method to screen simultaneously variants of biological and clinical relevance for congenital GH deficiency. A genetic diagnosis was possible in 5 out of 117 (4%) patients of our cohort. We identified three novel pathogenic variants in GHRHR, OTX2 and GLI2 expanding the spectrum of variants associated with congenital hypopituitarism
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