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1.
Curr Cardiol Rep ; 2024 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-39340601

RESUMO

PURPOSE OF REVIEW: Hypoplastic left heart syndrome (HLHS) is a critical congenital heart defect characterized by the underdevelopment of left-sided heart structures, leading to significant circulatory challenges, and necessitating multiple surgeries for survival. Despite advancements in surgical interventions, long-term outcomes often involve heart failure, highlighting the need for a deeper understanding of HLHS pathogenesis. Current in vivo and in vitro models aim to recapitulate HLHS anatomy and physiology, yet they face limitations in accuracy and complexity. RECENT FINDINGS: In vivo models, including those in chick, lamb, and mouse, provide insights into hemodynamic and genetic factors influencing HLHS. In vitro models using human induced pluripotent stem cells offer valuable platforms for studying genetic mutations and cellular mechanisms. This review evaluates these models' utility and limitations, and proposes future directions for developing more sophisticated models to enhance our understanding and treatment of HLHS.

2.
Mol Psychiatry ; 27(12): 5020-5027, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36224258

RESUMO

Tourette Syndrome (TS) is a heritable, early-onset neuropsychiatric disorder that typically begins in early childhood. Identifying rare genetic variants that make a significant contribution to risk in affected families may provide important insights into the molecular aetiology of this complex and heterogeneous syndrome. Here we present a whole-genome sequencing (WGS) analysis from the 11-generation pedigree (>500 individuals) of a densely affected Costa Rican family which shares ancestry from six founder pairs. By conducting an identity-by-descent (IBD) analysis using WGS data from 19 individuals from the extended pedigree we have identified putative risk haplotypes that were not seen in controls, and can be linked with four of the six founder pairs. Rare coding and non-coding variants present on the haplotypes and only seen in haplotype carriers show an enrichment in pathways such as regulation of locomotion and signal transduction, suggesting common mechanisms by which the haplotype-specific variants may be contributing to TS-risk in this pedigree. In particular we have identified a rare deleterious missense variation in RAPGEF1 on a chromosome 9 haplotype and two ultra-rare deleterious intronic variants in ERBB4 and IKZF2 on the same chromosome 2 haplotype. All three genes play a role in neurodevelopment. This study, using WGS data in a pedigree-based approach, shows the importance of investigating both coding and non-coding variants to identify genes that may contribute to disease risk. Together, the genes and variants identified on the IBD haplotypes represent biologically relevant targets for investigation in other pedigree and population-based TS data.


Assuntos
Neurogênese , Síndrome de Tourette , Pré-Escolar , Humanos , Costa Rica , Haplótipos , Linhagem , Transdução de Sinais , Síndrome de Tourette/genética , Neurogênese/genética , Polimorfismo Genético , Sequenciamento Completo do Genoma , Fator 2 de Liberação do Nucleotídeo Guanina/genética
3.
Allergol Immunopathol (Madr) ; 50(1): 99-103, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34965644

RESUMO

BACKGROUND: The novel disease caused by the new coronavirus SARS-CoV-2 has caused an unprecedented global pandemic. Care providers of asthmatic children are increasingly con-cerned; as viral infections are one of the primary triggers of asthma flare-up. However, the effect of SARS-CoV-2 as well as the generated worldwide lockdown on asthmatic children is unknown. OBJECTIVE: The aim of this study was to analyze the effects of pandemic SARS-CoV-2 in pediat-ric asthma control. MATERIAL AND METHODS: A retrospective, open, transversal study was performed at five ter-tiary hospitals. Recruited patients were aged <18 years and had physician-diagnosed asthma. Information regarding the 2019 and 2020 seasons were provided. RESULTS: Data were collected from 107 children (age range: 3-18 years, mean age: 12 years). Well-controlled asthma was observed in 58 (54.2%) patients in 2020 versus 30 (28%) in 2019, and 15 (14%) patients had poorly controlled asthma in 2020 versus 28 (26.2%) in 2019. In 2020, a decrease in exacerbations caused by allergies to pollen, dust mites, molds, and through other causes not related to SARS-CoV-2 infection was observed. An increase in exacerbations was observed due to animal dander, stress, physical exercise, and SARSCoV-2 infection. Children had a reduced need for asthma-controlling medication, made fewer visits to healthcare providers and had lesser need of treatment with oral corticosteroids if compared with the same season of 2019. CONCLUSION: Pediatric asthma control improved, the need for controller medication declined, and fewer visits to healthcare providers were made during the pandemic if compared with the 2019 season.


Assuntos
Asma , COVID-19 , Adolescente , Asma/tratamento farmacológico , Asma/epidemiologia , Criança , Pré-Escolar , Gerenciamento Clínico , Humanos , Pandemias , Estudos Retrospectivos
4.
Mol Psychiatry ; 24(4): 523-535, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-29955165

RESUMO

As it is likely that both common and rare genetic variation are important for complex disease risk, studies that examine the full range of the allelic frequency distribution should be utilized to dissect the genetic influences on mental illness. The rate limiting factor for inferring an association between a variant and a phenotype is inevitably the total number of copies of the minor allele captured in the studied sample. For rare variation, with minor allele frequencies of 0.5% or less, very large samples of unrelated individuals are necessary to unambiguously associate a locus with an illness. Unfortunately, such large samples are often cost prohibitive. However, by using alternative analytic strategies and studying related individuals, particularly those from large multiplex families, it is possible to reduce the required sample size while maintaining statistical power. We contend that using whole genome sequence (WGS) in extended pedigrees provides a cost-effective strategy for psychiatric gene mapping that complements common variant approaches and WGS in unrelated individuals. This was our impetus for forming the "Pedigree-Based Whole Genome Sequencing of Affective and Psychotic Disorders" consortium. In this review, we provide a rationale for the use of WGS with pedigrees in modern psychiatric genetics research. We begin with a focused review of the current literature, followed by a short history of family-based research in psychiatry. Next, we describe several advantages of pedigrees for WGS research, including power estimates, methods for studying the environment, and endophenotypes. We conclude with a brief description of our consortium and its goals.


Assuntos
Família/psicologia , Transtornos Mentais/genética , Alelos , Frequência do Gene/genética , Variação Genética/genética , Genótipo , Humanos , Saúde Mental , Linhagem , Fenótipo , Projetos de Pesquisa , Tamanho da Amostra , Análise de Sequência de DNA/métodos , Sequenciamento Completo do Genoma/métodos
5.
Neurol Psychiatry Brain Res ; 35: 38-41, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32863597

RESUMO

BACKGROUND: Imprecision of the psychiatric phenotype might partially explain the failure of genetic research to identify genes that contribute to susceptibility of anxiety disorders. Previous research concluded two underlying constructs, worry and rumination, might explain anxiety sub-syndromic symptoms in Costa Rican patients with history of mania. The goal of the current study is to explore the presence of latent constructs for quantitative anxiety in a group of subjects with a wide diagnostic phenotype and non-affected individuals. METHODS: We conducted an exploratory factor analysis of anxiety trait in 709 subjects. Our sample was comprised by 419 subjects with psychiatric disorders and 290 non-affected individuals. We used principal factors extraction method with squared multiple correlations of the STAI (trait subscale). RESULTS: We found the following preliminary results: a three-factor solution with a good simple structure and statistical adequacy was obtained with a KMO of 0.92 (>0.6) and Bartlett's Test of Sphericity of 5644,44 (p<0.05). The STAI items were grouped into three factors: anxiety-absent, worry and rumination based on the characteristics of the symptoms. CONCLUSION: Two underlying constructs, worry and rumination may explain anxiety sub-syndromic symptoms in Costa Rican subjects. Our proposed underlying structure of subsyndromal anxiety in individuals should be considered as an important factor in defining better phenotypic characterizations on a broader diagnostic concept. Worry and rumination as a phenotypic characterization may assist in genotyping; however, its predictive value on actual illness outcome still requires more research. The Genome-Wide QTL analysis for anxiety trait in the same sample is ongoing.

6.
Sensors (Basel) ; 19(15)2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31374987

RESUMO

In this paper, a review of the state-of-the-art chipless radiofrequency identification (RFID) technology is carried out. This recent technology may provide low cost tags as long as these tags are not equipped with application specific integrated circuits (ASICs). Nevertheless, chipless-RFID presents a series of technological challenges that have been addressed by different research groups in the last decade. One of these challenges is to increase the data storage capacity of tags, in order to be competitive with optical barcodes, or even with chip-based RFID tags. Thus, the main aim of this paper is to properly clarify the advantages and disadvantages of chipless-RFID technology. Moreover, since the coding information is an important aspect in such technology, the different coding techniques, as well as the main figures of merit used to compare different chipless-RFID tags, will be analyzed.

7.
Sensors (Basel) ; 19(14)2019 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-31331078

RESUMO

A microstrip defect ground structure (DGS) based on a pair of dumbbell-shaped slots is used for sensing. The device is a differential sensor consisting of a pair of mirrored lines loaded with a dumbbell-shaped DGS, and the output variable is the cross-mode transmission coefficient. Such a variable is very sensitive to asymmetries in the line pair, e.g., caused by an asymmetric dielectric load in the dumbbell-shaped DGSs. Therefore, the sensor is of special interest for the dielectric characterization of solids and liquids, or for the measurement of variables related to complex permittivity changes. It is shown in this work that by adding fluidic channels on top of the dumbbell-shaped DGSs, the device is useful for liquid characterization, particularly for the measurement of solute concentration in very diluted solutions. A sensitivity analysis useful for sensor design is carried out in this paper.

8.
Am J Med Genet B Neuropsychiatr Genet ; 180(3): 213-222, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30779416

RESUMO

We previously identified bipolar disorder (BD) susceptibility loci on 8q24, 14q32, and 2q12-14 in a genome-wide nonparametric linkage screen in a Latino cohort. We now perform a fine mapping analysis using a dense map of additional SNPs to identify BD susceptibility genes within these regions. One thousand nine hundred and thirty-eight individuals with Latino ancestry (880 individuals with BD Type I or Schizoaffective, Bipolar Type) from 416 Latino pedigrees from the United States, Mexico, Costa Rica, and Guatemala were genotyped with 3,074 SNPs to provide dense coverage of the 8q24 (11.5 cM), 14q32 (7.5 cM), and 2q12-14 (6.5 cM) chromosomal loci. Single-marker association tests in the presence of linkage were performed using the LAMP software. The top linkage peak (rs7834818; LOD = 5.08, p = 3.30E - 5) and associated single marker (rs2280915, p = 2.70E - 12) were located within FBXO32 on 8q24. On chromosome 2, the top linkage peak (rs6750326; LOD = 5.06, p = 3.50E - 5) and associated single marker (rs11887088, p = 2.90E - 6) were located in intragenic regions near ACTR3 and DPP10. None of the additional markers in the region around chromosome 14q32 met significance levels for linkage or association. We identified six SNPs on 2q12-q14 and one SNP in FBXO32 on 8q24 that were significantly associated with BD in this Latino cohort.


Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 2/genética , Transtornos Psicóticos/genética , Proteína 3 Relacionada a Actina/genética , Proteína 3 Relacionada a Actina/metabolismo , Adulto , Transtorno Bipolar/psicologia , Mapeamento Cromossômico/métodos , Costa Rica , Dipeptidil Peptidases e Tripeptidil Peptidases/genética , Dipeptidil Peptidases e Tripeptidil Peptidases/metabolismo , Feminino , Ligação Genética/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Genótipo , Guatemala , Hispânico ou Latino/genética , Humanos , Escore Lod , Masculino , México , Pessoa de Meia-Idade , Proteínas Musculares/genética , Proteínas Musculares/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Transtornos Psicóticos/psicologia , Proteínas Ligases SKP Culina F-Box/genética , Proteínas Ligases SKP Culina F-Box/metabolismo , Estados Unidos
9.
Sensors (Basel) ; 18(4)2018 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-29587460

RESUMO

In this paper, an analytical method to estimate the complex dielectric constant of liquids is presented. The method is based on the measurement of the transmission coefficient in an embedded microstrip line loaded with a complementary split ring resonator (CSRR), which is etched in the ground plane. From this response, the dielectric constant and loss tangent of the liquid under test (LUT) can be extracted, provided that the CSRR is surrounded by such LUT, and the liquid level extends beyond the region where the electromagnetic fields generated by the CSRR are present. For that purpose, a liquid container acting as a pool is added to the structure. The main advantage of this method, which is validated from the measurement of the complex dielectric constant of olive and castor oil, is that reference samples for calibration are not required.

10.
Sensors (Basel) ; 18(4)2018 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-29642560

RESUMO

A chipless radio-frequency identification (chipless-RFID) and sensing system, where tags are read by proximity (near-field) through a switch, is presented. The tags consist of a set of identical resonant elements (split-ring resonators or SRRs), printed or etched at predefined and equidistant positions, forming a linear chain, each SRR providing a bit of information. The logic state ('1' or '0') associated with each resonator depends on whether it is present or not in the predefined position. The reader is an array of power splitters used to feed a set of SRR-loaded transmission lines (in equal number to the number of resonant elements, or bits, of the tag). The feeding (interrogation) signal is a harmonic (single-tone) signal tuned to a frequency in the vicinity of the fundamental resonance of the SRRs. The set of SRR-loaded lines must be designed so that the corresponding SRRs are in perfect alignment with the SRRs of the tag, provided the tag is positioned on top of the reader. Thus, in a reading operation, as long as the tag is very close to the reader, the SRRs of the tag modify (decrease) the transmission coefficient of the corresponding reader line (through electromagnetic coupling between both SRRs), and the amplitude of the output signal is severely reduced. Therefore, the identification (ID) code of the tag is contained in the amplitudes of the output signals of the SRR-loaded lines, which can be inferred sequentially by means of a switching system. Unlike previous chipless-RFID systems based on near-field and sequential bit reading, the tags in the proposed system can be merely positioned on top of the reader, conveniently aligned, without the need to mechanically place them across the reader. Since tag reading is only possible if the tag is very close to the reader, this system can be also used as a proximity sensor with applications such as target identification. The proposed chipless-RFID and sensing approach is validated by reading a designed 4-bit tag. For identification purposes, this system is of special interest in applications where a low number of bits suffice, and tag reading by proximity is acceptable (or even convenient). Applications mostly related to secure paper, particularly involving a limited number of items (e.g., exams, ballots, etc.), in order to provide authenticity and avoid counterfeiting, are envisaged. As a proximity sensor, the system may be of use in detecting and distinguishing different targets in applications such as smart packaging.

11.
Gac Med Mex ; 154(1): 62-67, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-29420527

RESUMO

Cutaneous vasculities (CV) represents a diagnostic challenge, occurs as primary cutaneous disorder or as a manifestation of other entities. Objective: To search the cause of CV. Methods: Patients with CV were prospectively evaluated. In all patients, skin biopsies were drawn, and direct immunofluorescence was done in most of the patients. American College of Rheumatology (ACR) and Chapel Hill Consensus Conference Criteria (CHCC) were used for classification. Results: 32 patients were studied. There was female predominance (71.8%). Children presented drug-associated CV or Schönlein-Henoch púrpura (SHP). Adults presented more frequently SHP, systemic lupus erythematosus or paraneoplastic vasculitis, other diagnosis as polyarteritis nodosa, microscopic polyangiitis, thrombotic vasculitis (post-puerperal), antiphospholipid syndrome, Churg-Strauss syndrome, and drug-associated CV were presented. Using the ACR and CHCC criteria, 50% of cases were classified. Discussion: In our institution, during this work the etiologic diagnostic of CV increased more than twice. However, in the case of HSV or LA and SHP none of the proposed criteria had high specificity; other parameters were used to discern between both. Six patients remained as not classified. In our view, cryoglobulins and hepatitis serology do not seem useful unless patient's history supports they need to be done. Unclassified patients were followed-up closely for 2 years.


Las vasculitis cutáneas (VC), primarias o como manifestación de enfermedades sistémicas, constituyen un reto diagnóstico. Objetivo: Determinar las causas de VC. Métodos: Se incluyeron pacientes con diagnóstico de CV, a los cuales se les realizó valoración clínica, biopsia cutánea y exámenes de laboratorio. En la mayoría de los casos se realizó inmunofluorescencia directa. Los casos se clasificaron con los criterios del American College of Rheumatology (ACR) y la Chapel Hill Consensus Conference (CHCC). Resultados: Se incluyeron 32 pacientes; la frecuencia fue mayor en mujeres (71.8%). Los niños presentaron VC asociadas a medicamentos o púrpura de Schönlein-Henoch (PSH). En adultos se reportó con más frecuencia PSH, vasculitis asociada a lupus eritematoso sistémico y vasculitis paraneoplásicas; otros diagnósticos etiológicos incluyeron poliarteritis nodosa (PAN), poliangeítis microscópica (PAM), vasculitis trombótica (pospuerperal), síndrome antifosfolípidos (SAF), síndrome de Churg-Strauss (SCS) y VC asociada a medicamentos. Utilizando los criterios del ACR y la CHCC para vasculitis se clasificó el 50% de los casos. Discusión: En el Hospital Gea, durante este trabajo, el diagnóstico etiológico de las CV se incrementó más del doble. Sin embargo, en relación a los diagnósticos vasculitis por hipersensibilidad (VHS) y PSH ninguna de las clasificaciones utilizadas contaba con criterios específicos. Seis pacientes permanecieron sin clasificar. Observamos que los estudios de crioglobulinas y serología para hepatitis no son útiles como estudios iniciales, salvo que la historia clínica del paciente lo sugiera. Los pacientes sin clasificar se siguieron por dos años.


Assuntos
Dermatopatias Vasculares/etiologia , Vasculite/etiologia , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
12.
Bipolar Disord ; 18(6): 520-527, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27759212

RESUMO

OBJECTIVES: Recent genome-wide association studies (GWASs) have identified numerous putative genetic polymorphisms associated with bipolar disorder (BD) and/or schizophrenia (SC). We hypothesized that a portion of these polymorphisms would also be associated with BD in the Latino American population. To identify such regions, we tested previously identified genetic variants associated with BD and/or SC and ancestral haploblocks containing these single nucleotide polymorphisms (SNPs) in a sample of Latino subjects with BD. METHODS: A total of 2254 Latino individuals were genotyped for 91 SNPs identified in previous BD and/or SC GWASs, along with selected SNPs in strong linkage disequilibrium with these markers. Family-based single marker and haplotype association testing was performed using the PBAT software package. Empirical P-values were derived from 10 000 permutations. RESULTS: Associations of eight a priori GWAS SNPs with BD were replicated with nominal (P≤.05) levels of significance. These included SNPs within nuclear factor I A (NFIA), serologically defined colon cancer antigen 8 (SDCCAG8), lysosomal associated membrane protein 3 (LAMP3), nuclear factor kappa B subunit 1 (NFKB1), major histocompatibility complex, class I, B (HLA-B) and 5'-nucleotidase, cytosolic II (NT5C2) and SNPs within intragenic regions microRNA 6828 (MIR6828)-solute carrier family 7 member 14 (SLC7A14) and sonic hedgehog (SHH)-long intergenic non-protein coding RNA 1006 (LINC01006). Of the 76 ancestral haploblocks that were tested for associations with BD, our top associated haploblock was located in LAMP3; however, the association did not meet statistical thresholds of significance following Bonferroni correction. CONCLUSIONS: These results indicate that some of the gene variants found to be associated with BD or SC in other populations are also associated with BD risk in Latinos. Variants in six genes and two intragenic regions were associated with BD in our Latino sample and provide additional evidence for overlap in genetic risk between SC and BD.


Assuntos
Transtorno Bipolar , Fatores de Transcrição Kruppel-Like/genética , Proteínas de Membrana Lisossomal/genética , Subunidade p50 de NF-kappa B/genética , Proteínas de Neoplasias/genética , Esquizofrenia , Adulto , Transtorno Bipolar/etnologia , Transtorno Bipolar/genética , Costa Rica/epidemiologia , Feminino , Predisposição Genética para Doença , Testes Genéticos , Estudo de Associação Genômica Ampla , Guatemala/epidemiologia , Haplótipos , Hispânico ou Latino/genética , Hispânico ou Latino/estatística & dados numéricos , Humanos , Desequilíbrio de Ligação , Masculino , México/epidemiologia , Polimorfismo de Nucleotídeo Único , Esquizofrenia/etnologia , Esquizofrenia/genética , Estados Unidos/epidemiologia
13.
Sensors (Basel) ; 16(12)2016 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-27999399

RESUMO

In this paper, several configurations of splitter/combiner microstrip sections loaded with stepped impedance resonators (SIRs) are analyzed. Such structures are useful as sensors and comparators, and the main aim of the paper is to show that the proposed configurations are useful for the optimization of sensitivity and discrimination. Specifically, for comparison purposes, i.e., to determine anomalies, abnormalities or defects of a sample under test (SUT) in comparison to a reference sample, it is shown that up to three samples can be simultaneously tested. Simple models of the proposed structures are presented, and these models are validated through electromagnetic simulation and experiment. Finally, the principle of operation is validated through a proof-of-concept demonstrator.

14.
Rheumatology (Oxford) ; 54(4): 647-54, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25239881

RESUMO

OBJECTIVE: Cardiac involvement in SSc is characterized by myocardial fibrosis, arrhythmias and pericarditis. Prevalence studies have shown variable results. The objective of this study was to determine the prevalence of cardiac involvement in SSc patients using the non-invasive, highly sensitive diagnostic methods of cardiac MRI and coronary angiotomography. METHODS: We included 62 SSc patients and excluded those with heart disease prior to the onset of SSc, renal failure, diabetes mellitus, hyperlipidaemia, arterial hypertension, untreated thyroid disease, cor pulmonale, pregnancy or contraindications to performing cardiac MRI. All underwent clinical and laboratory evaluation, ECG, coronary angiotomography and cardiac MRI. RESULTS: The prevalence of myocardial fibrosis was 45% and was higher in dcSSc (59%) than in lcSSc patients (33%; P = 0.04). The mean left ventricular ejection fraction (LVEF) was lower in patients with myocardial fibrosis (56%) than in those without fibrosis (63%; P = 0.0009); myocardial fibrosis on MRI was more frequent in the basal-septal segments of the LV. Seventy-nine per cent of patients had subendocardial perfusion defects and these were associated with higher ultrasensitive serum CRP values. There was no association of myocardial fibrosis or microvascular damage with atherosclerosis. CONCLUSION: The prevalence of myocardial fibrosis on MRI attributable to SSc is 45%, is more frequent and severe in dcSSc patients, is associated with lower LVEF and affects mainly basal LV walls. Microvascular damage in SSc is common and is associated with elevated ultrasensitive CRP levels. Cardiac damage due to SSc is not associated with coronary artery disease.


Assuntos
Doença da Artéria Coronariana/diagnóstico , Microvasos/patologia , Miocárdio/patologia , Esclerodermia Difusa/diagnóstico , Esclerodermia Limitada/diagnóstico , Adulto , Técnicas de Imagem Cardíaca , Angiografia Coronária , Doença da Artéria Coronariana/etiologia , Doença da Artéria Coronariana/fisiopatologia , Estudos Transversais , Eletrocardiografia , Feminino , Fibrose , Cardiopatias/diagnóstico , Cardiopatias/etiologia , Cardiopatias/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Microvasos/diagnóstico por imagem , Pessoa de Meia-Idade , Imagem de Perfusão do Miocárdio , Esclerodermia Difusa/complicações , Esclerodermia Limitada/complicações , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico , Volume Sistólico , Tomografia Computadorizada por Raios X
15.
Cochrane Database Syst Rev ; (11): CD010017, 2015 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-26598969

RESUMO

BACKGROUND: Psoriasis is a chronic skin disease that may develop at any age. Estimates for the United States and Europe suggest that psoriasis accounts for 4% of skin diseases in children. In most cases, the condition is mild and can be treated with creams. However, a small percentage of children have moderate to severe disease that requires drugs, such as ciclosporin or methotrexate, and some will require injections with newer biological agents, such as anti-TNF (tumour necrosis factor) drugs. Anti-TNF drugs (among them etanercept, infliximab, and adalimumab) are designed to reduce inflammation in the body caused by tumour necrosis factor. Evidence for the safety and efficacy of these biological agents in paediatric psoriasis is lacking. OBJECTIVES: To assess the efficacy and safety of anti-TNF agents for the treatment of paediatric psoriasis. SEARCH METHODS: We searched the following databases up to July 2015: the Cochrane Skin Group Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL; 2015, Issue 6), MEDLINE (from 1946), Embase (from 1974), and LILACS (from 1982). We also searched 13 trials registers and checked the reference lists of included studies and key review articles for further references to relevant randomised controlled trials (RCTs). We handsearched conference proceedings and attempted to contact trial authors and relevant pharmaceutical manufacturers. We searched the US Food and Drug Administration's and European Medicines Agency's adverse effects databases. SELECTION CRITERIA: All relevant RCTs that evaluated the efficacy and safety of anti-TNF agents for the treatment of chronic plaque psoriasis in individuals less than 18 years of age. DATA COLLECTION AND ANALYSIS: Two review authors independently checked titles and abstracts and performed data extraction and 'Risk of bias' assessment of the included studies. One review author entered data into Review Manager (RevMan), and a second review author checked the data. We also attempted to obtain unclear data from the trial authors where possible.Our primary outcomes were investigator-assessed number of participants achieving a 75% improvement in Psoriasis Area and Severity Index-75 (PASI 75) compared to baseline, improvement in quality of life using an instrument such as Children's Dermatology Life Quality Index (CDLQI), and adverse effects. Our secondary outcomes included the proportion of participants achieving PASI 50 and the Physician's Global Assessment (PGA). MAIN RESULTS: We included one study with 211 participants (median age 13 years), in which etanercept (dosage ranged from 0.8 to 50 mg per kilogram of body weight) was compared to placebo. Follow-up was over a 48-week period.At week 12, 57% versus 11% who received etanercept or placebo, respectively, achieved the PASI 75 (risk ratio 4.95, 95% confidence interval (CI) 2.83 to 8.65; high-quality evidence). Absolute risk reduction and the number needed to treat to obtain a benefit with etanercept was 45% (95% CI 33.95 to 56.40) and 2 (95% CI 1.77 to 2.95), respectively.The percentage improvement from baseline of the CDLQI scores at week 12 was better in the etanercept group than the placebo group (52.3% versus 17.5%, respectively (P = 0.0001)). Analysis between the groups showed an effect size that was clinically important (mean difference 2.30, 95% CI 0.85 to 3.75; high-quality evidence). However, means, medians, and minimal important difference results and results of the Pediatric Quality of Life Inventory, Stein Impact on Family Scale, and Harter Self-Perception Profile for Children scores must be interpreted with caution, as they were not prespecified outcomes.Three serious adverse events were reported, but they were resolved without sequelae. Deaths or other events such as malignant tumours, opportunistic infections, tuberculosis, or demyelination were not reported in the included study.Also, 13% of participants in the placebo group and 53% in the etanercept group had a PGA of clear or almost clear (risk ratio 3.96, 95% CI 2.36 to 6.66; high-quality evidence) at week 12. AUTHORS' CONCLUSIONS: This review found only one RCT evaluating the use of this type of biological therapy. Although the risk of publication bias was high, as we included only one industry-sponsored RCT, the risk of allocation, selection, performance, attrition, and selective reporting biases for all outcomes (except for CDLQI) was low, and no short-term serious adverse events were found.We can conclude, based on this single included study, that etanercept seems to be efficacious and safe (at least in the short term) for the treatment of paediatric psoriasis. However, as the GRADE approach refers not to individual studies but to a body of evidence, we shall wait for the results of the ongoing studies in a future update of this review. In addition, future studies should evaluate quality-of-life endpoints established a priori and standardise primary outcome measures such as PASI 75, and should include the PGA as a secondary endpoint. Also, collating and reporting adverse events uniformly is required to better evaluate safety.


Assuntos
Anti-Inflamatórios não Esteroides/uso terapêutico , Etanercepte/uso terapêutico , Psoríase/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adolescente , Anti-Inflamatórios não Esteroides/efeitos adversos , Criança , Etanercepte/efeitos adversos , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
16.
Sensors (Basel) ; 15(12): 29938-49, 2015 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-26633403

RESUMO

A MATLAB/SIMULINK software simulation model (structure and component blocks) has been constructed in order to view and analyze the potential of the PSD (Position Sensitive Detector) array concept technology before it is further expanded or developed. This simulation allows changing most of its parameters, such as the number of elements in the PSD array, the direction of vision, the viewing/scanning angle, the object rotation, translation, sample/scan/simulation time, etc. In addition, results show for the first time the possibility of scanning an object in 3D when using an a-Si:H thin film 128 PSD array sensor and hardware/software system. Moreover, this sensor technology is able to perform these scans and render 3D objects at high speeds and high resolutions when using a sheet-of-light laser within a triangulation platform. As shown by the simulation, a substantial enhancement in 3D object profile image quality and realism can be achieved by increasing the number of elements of the PSD array sensor as well as by achieving an optimal position response from the sensor since clearly the definition of the 3D object profile depends on the correct and accurate position response of each detector as well as on the size of the PSD array.

17.
Rev Panam Salud Publica ; 36(4): 266-9, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25563152

RESUMO

The World Health Organization (WHO) Mental Health Action Plan 2013-2020 urges its Member States to strengthen leadership in mental health, ensure mental and social health interventions in community-based settings, promote mental health and strengthen information systems, and increase evidence and research for mental health. Although Costa Rica has strongly invested in public health and successfully reduced the burden of nutritional and infectious diseases, its transitional epidemiological pattern, population growth, and immigration from unstable neighboring countries has shifted the burden to chronic disorders. Although policies for chronic disorders have been in place for several decades, mental disorders have not been included. Recently, as the Ministry of Health of Costa Rica developed a Mental Health Policy for 2013-2020, it became evident that the country needs epidemiological data to prioritize evidence-based intervention areas. This article stresses the importance of conducting local epidemiological studies on mental health, and calls for changes in research funding priorities by public and private national and international funding agencies in order to follow the WHO Mental Health Action Plan.


Assuntos
Saúde Mental , Apoio à Pesquisa como Assunto , Pesquisa/economia , Costa Rica , Países em Desenvolvimento , Financiamento Governamental , Organização do Financiamento , Promoção da Saúde , Necessidades e Demandas de Serviços de Saúde , Financiamento da Assistência à Saúde , Humanos , Transtornos Mentais/epidemiologia , Transtornos Mentais/prevenção & controle , Transtornos Mentais/reabilitação , Transtornos Mentais/terapia , Serviços de Saúde Mental/provisão & distribuição , Formulação de Políticas , Psiquiatria , Pesquisa/tendências , Apoio à Pesquisa como Assunto/tendências , Previdência Social/economia , Recursos Humanos , Organização Mundial da Saúde
18.
Am J Med Genet B Neuropsychiatr Genet ; 165B(6): 479-91, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25044503

RESUMO

A genome-wide nonparametric linkage screen was performed to localize Bipolar Disorder (BP) susceptibility loci in a sample of 3757 individuals of Latino ancestry. The sample included 963 individuals with BP phenotype (704 relative pairs) from 686 families recruited from the US, Mexico, Costa Rica, and Guatemala. Non-parametric analyses were performed over a 5 cM grid with an average genetic coverage of 0.67 cM. Multipoint analyses were conducted across the genome using non-parametric Kong & Cox LOD scores along with Sall statistics for all relative pairs. Suggestive and significant genome-wide thresholds were calculated based on 1000 simulations. Single-marker association tests in the presence of linkage were performed assuming a multiplicative model with a population prevalence of 2%. We identified two genome-wide significant susceptibly loci for BP at 8q24 and 14q32, and a third suggestive locus at 2q13-q14. Within these three linkage regions, the top associated single marker (rs1847694, P = 2.40 × 10(-5)) is located 195 Kb upstream of DPP10 in Chromosome 2. DPP10 is prominently expressed in brain neuronal populations, where it has been shown to bind and regulate Kv4-mediated A-type potassium channels. Taken together, these results provide additional evidence that 8q24, 14q32, and 2q13-q14 are susceptibly loci for BP and these regions may be involved in the pathogenesis of BP in the Latino population.


Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 8/genética , Ligação Genética , Loci Gênicos/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Hispânico ou Latino/genética , Família , Humanos , Modelos Genéticos , Fenótipo , Análise de Sequência de DNA , Estatísticas não Paramétricas
19.
Stem Cell Res ; 80: 103526, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39121650

RESUMO

Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare congenital heart defect that causes a significant decrease of blood outflow from the heart and is fatal if left untreated. iPSC line NCHi013-A was produced from peripheral blood mononuclear cells from a male child with PA/IVS using Sendai virus reprogramming. NCHi013-A displayed normal stem cell morphology, expressed markers for pluripotency, and presented ability to differentiate into cells of endoderm, ectoderm, and mesoderm lineages. The iPSC line also maintained normal karyotype, was validated for cell identity, and tested negative for transgenes and mycoplasma contamination.


Assuntos
Células-Tronco Pluripotentes Induzidas , Atresia Pulmonar , Masculino , Atresia Pulmonar/patologia , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Pré-Escolar , Diferenciação Celular , Cardiopatias Congênitas/patologia , Linhagem Celular
20.
Brain Sci ; 14(6)2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38928547

RESUMO

BACKGROUND AND OBJECTIVES: Spinal surgery, particularly for cervical pathologies such as myelopathy and radiculopathy, requires a blend of theoretical knowledge and practical skill. The complexity of these conditions, often necessitating surgical intervention, underscores the need for intricate understanding and precision in execution. Advancements in neurosurgical training, especially with the use of low-cost 3D models for simulating cervical spine tumor removal, are revolutionizing this field. These models provide the realistic and hands-on experience crucial for mastering complex neurosurgical techniques, filling gaps left by traditional educational methods. MATERIALS AND METHODS: This study aimed to assess the effectiveness of 3D-printed cervical vertebrae models in enhancing surgical skills, focusing on tumor removal, and involving 20 young neurosurgery residents. These models, featuring silicone materials to simulate the spinal cord and tumor tissues, provided a realistic training experience. The training protocol included a laminectomy, dural incision, and tumor resection, using a range of microsurgical tools, focusing on steps usually performed by senior surgeons. RESULTS: The training program received high satisfaction rates, with 85% of participants extremely satisfied and 15% satisfied. The 3D models were deemed very realistic by 85% of participants, effectively replicating real-life scenarios. A total of 80% found that the simulated pathologies were varied and accurate, and 90% appreciated the models' accurate tactile feedback. The training was extremely useful for 85% of the participants in developing surgical skills, with significant post-training confidence boosts and a strong willingness to recommend the program to peers. CONCLUSIONS: Continuing laboratory training for residents is crucial. Our model offers essential, accessible training for all hospitals, regardless of their resources, promising improved surgical quality and patient outcomes across various pathologies.

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