RESUMO
We report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries. INTRODUCTION: Our current understanding of the clinical presentation and natural history of X-linked hypophosphatemia (XLH) comes mainly from cohorts from developed countries, with limited data on the clinical and genetic abnormalities of XLH patients in South America. OBJECTIVE: To describe the clinical, biochemical, and molecular presentation of patients with XLH in Chile. METHODS: Patients with XLH referred by endocrinologist throughout Chile were included. Demographic data and clinical presentation were obtained from a clinical interview. Surveys were applied for quality of life (QoL), pain, and functionality. FGF23 was measured by ELISA, and genetic testing was performed. Imaging studies were conducted to assess skeletal and renal involvement. RESULTS: We included 26 patients, aged 2-64 years, from 17 unrelated Chilean families. All pediatric patients but only 40% of adults were receiving conventional therapy, while 65% of all patients had elevated alkaline phosphatase. All patients had mutations in PHEX, including 5 novel variants. Radiographic skeletal events (RSE) and enthesopathies in adults were frequent (34% and 85%, respectively). The duration of treatment was associated with fewer RSE (p < 0.05). Most adults reported pain and impaired QoL, and 50% had impaired physical capacity. The number of enthesopathies was associated with worse pain and stiffness scores (p < 0.05). CONCLUSION: Chilean patients with XLH have a high prevalence of musculoskeletal burden associated with pain and impaired physical capacity and QoL, especially in adults who were generally undertreated. These data identify a significant unmet need, inform our understanding of the current status of patients, and can guide care for XLH patients in similarly socioeconomically defined countries.
Assuntos
Raquitismo Hipofosfatêmico Familiar , Qualidade de Vida , Adulto , Criança , Chile/epidemiologia , Raquitismo Hipofosfatêmico Familiar/epidemiologia , Raquitismo Hipofosfatêmico Familiar/genética , Fator de Crescimento de Fibroblastos 23 , Testes Genéticos , Humanos , MutaçãoRESUMO
AIM: To quantitatively and qualitatively compare the host proteomic profile in samples of symptomatic and asymptomatic apical periodontitis (AP) using nano-liquid chromatography-electron spray tandem mass spectrometry. METHODOLOGY: Samples were obtained from 18 patients with radiographically evident AP, divided into symptomatic and asymptomatic groups (nine per group) according to clinical characteristics. After sample collection, protein extraction, purification and quantification of the samples were performed, which were analysed by reverse-phase liquid chromatography coupled to mass spectrometry. Label-free quantitative proteomic analysis was performed by Protein Lynx Global Service software. Differences in expression of proteins between the groups were calculated using the Monte Carlo algorithm, considering P < 0.05 for down-regulated proteins and 1 - P > 0.95 for up-regulated proteins. Proteins were identified with the embedded ion accounting algorithm in the software and a search of the Homo sapiens UniProt database. RESULTS: A total of 853 individual human proteins were identified. In the quantitative analysis, common proteins to both groups accounted for 143 proteins. Differences in expression between groups resulted in 51 up-regulated proteins (1 - P > 0.95) in the symptomatic group, including alpha-1-antitrypsin, protein S100-A8, myeloperoxidase, peroxiredoxin and lactotransferrin. This group also had 43 down-regulated proteins (P < 0.05), comprising immunoglobulin, neutrophil defensin, pyruvate kinase and alpha-enolase. The qualitative analysis considered only the exclusive proteins of each group. For the symptomatic group, 318 complete proteins and 29 fragments were identified, such as dedicator of cytokinesis protein, intersectin, prostaglandin, phospholipase DDHD2 and superoxide dismutase. For the asymptomatic group, 326 complete proteins and 37 fragments were identified, including azurocidin, C-reactive protein, collagen alpha, cathepsin, heat shock and laminin. CONCLUSIONS: Quantitative differences in the expression of common proteins in cases of symptomatic and asymptomatic AP were found, which were mostly related to host immune response in both groups. Exclusive proteins in the symptomatic group were mainly related to the host response to the presence of viruses in endodontic infections, oxidative stress and proteolytic enzymes. The results provide a basis for a better understanding of cellular and molecular pathways involved in AP, establishing specific proteomic profiles for symptomatic and asymptomatic conditions.
Assuntos
Periodontite Periapical , Proteômica , Humanos , FosfolipasesRESUMO
AIM: To analyze the frequency of use of the Montreal Cognitive Assessment (MoCA) as a cognitive screening instrument, cross-cultural adaptation, the existence of normative data and clinical validation studies in Latin America Hispanic countries. SUBJECTS AND METHODS: The Medline, PsycINFO, Web of Science, Scopus and Scielo databases were consulted between April and June 2017 according to the PRISMA methodology. We included all studies referencing the MoCA as an instrument to evaluate cognitive deterioration conducted in Latin America and that included normative and psychometric data, as well as its clinical validation. RESULTS: Of the 80 studies identified, 19 met the inclusion criteria. Most of the studies mentioned the use of the Spanish version of the MoCA and reported a statistically significant effect of gender, age and, most of all, education on the performance of this test. Only five studies presented with a detailed analysis of the psychometric characteristics of the test, and in most articles cut-off scores for the diagnosis of cognitive impairment were the same as the original study. CONCLUSIONS: The small number of articles identified may reflect a late start of the use of MoCA in Latin America. A tendency towards the use of this test without making a cross-cultural adaptation and the use of international norms was observed in this region. The present systematic review demonstrates the need for future research tackling the development of a linguistically adapted version of the MoCA to Latin America and the study of its psychometric properties, with the aim of improving cognitive assessment.
TITLE: Uso del test de evaluacion cognitiva de Montreal (MoCA) en America Latina: revision sistematica.Objetivo. Analizar la frecuencia del uso del test de evaluacion cognitiva de Montreal (MoCA) como instrumento de cribado cognitivo, su adaptacion transcultural, la existencia de baremos y estudios de validacion clinica en paises de habla hispana en America Latina. Sujetos y metodos. Se ha realizado una revision sistematica de todos los estudios desarrollados en America Latina, con referencia al MoCA, que incluyan datos normativos, datos psicometricos y estudios de baremacion o de validacion clinica. Fueron consultadas sistematicamente, entre abril y junio de 2017, las bases de datos Medline, PsycINFO, Web of Science, Scopus y Scielo, conforme a la metodologia PRISMA. Resultados. De los 80 estudios encontrados, 19 cumplieron los criterios de inclusion. La mayoria de los estudios menciona el uso de la version española y comunica un efecto significativo del sexo, la edad y la escolaridad. El punto de corte adoptado por la mayoria de los autores para el diagnostico de deterioro cognitivo es el mismo del estudio original. Conclusiones. El reducido numero de articulos identificados refleja posiblemente un inicio tardio de la utilizacion del MoCA en America Latina. Esto pone de manifiesto una tendencia en la region a utilizar la prueba sin hacer una adaptacion transcultural de la version original y sin recurrir a normas internacionales para el diagnostico. La presente revision sistematica demuestra la necesidad de trabajos futuros de investigacion que puedan ofrecer una version linguisticamente adaptada del MoCA para America Latina y un estudio de sus propiedades psicometricas, con miras a una evaluacion cognitiva de mayor calidad.
Assuntos
Disfunção Cognitiva/diagnóstico , Demência/diagnóstico , Testes de Estado Mental e Demência , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/psicologia , Assistência à Saúde Culturalmente Competente , Demência/epidemiologia , Demência/psicologia , Diagnóstico Precoce , Escolaridade , Feminino , Humanos , América Latina/epidemiologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Utilização de Procedimentos e Técnicas , Psicometria , Reprodutibilidade dos Testes , TraduçõesRESUMO
Polineuropatia periférica (PNP) tem sido descrita na doença de Parkinson idiopática (DP), porém a prevalência e os fatores de risco não estão bem definidos. Objetivo: Investigar a prevalência e os fatores de risco para PNP na DP, em comparação com a população geral. Método: Participaram 36 pacientes com DP recrutados no ambulatório de Neurologia do Hospital Universitário Alcides Carneiro (HUAC) da Universidade Federal de Campina Grande (UFCG), Paraíba, e 30 sujeitos controles. Todos os participantes foram submetidos a caracterização clínica da PNP, ao estudo de neurocondução (ENC) dos nervos peroneal e sural bilateral e as dosagens de vitamina B12, homocisteina, ácido metilmalônico e ácido fólico. A Escala Unificada de Avaliação da Doença de Parkinson - III e a de Hoehn-Yahr foram utilizadas na avaliação motora do grupo Parkinson (GP). Resultados: Sinais e sintomas neuropáticos foram mais frequentes no GP (61%). Alterações nos parâmetros do ENC foram observadas em 44,4% do GP e 26,7% do grupo controle, sendo a PNP confirmada em três pacientes e um controle. Análise de regressão revelou associação significativa entre os sintomas neuropáticos e a DP, sem associação com aspectos clínicos e bioquímicos. Conclusão: Pacientes com DP possuem maiores escores neuropáticos e maior prevalência de PNP que controles. Os dados sugerem a própria DP como fator de risco para o desenvolvimento da PNP, minimizando o papel da vitamina B12 e de seus metabólitos neste processo.(AU)
Peripheral neuropathy (PN) has been described in idiopathic Parkinson disease (PD) however the prevalence and the risk factors are not well established. Objective: To assess the prevalence of PN and the risk factors for neuropathy in PD against the general population. Method: Participated in the study 36 PD patients recruited from Neurology Outpatient Unit of Hospital Universitário Alcides Carneiro of the Federal University of Campina Grande, Paraíba, and 30 controls. All the participants were submitted to clinical characterization of PN, nerve conduction study (NCS) and biochemical dosages (B12 vitamin, homocysteine, methylmalonic acid and folic acid). Results: Neuropathic signs and symptoms were more frequent in PD (61%). Alterations in parameters of NCS were observed in 44.4% of Parkinson group and 26.7% of control group, and PN was confirmed in 3 PD patients and 1 control. Regression analyses showed a significant association between symptoms of PN and PD, without association with clinical and biochemical features. Conclusion: PD patients have higher neuropathic scores and frequency of PN than controls. Data suggests the PD by itself as a risk factor for development of PN, reducing the role of B12 vitamin and its metabolites in this process.(AU)
Assuntos
Humanos , Masculino , Feminino , Idoso , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Doença de Parkinson/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/epidemiologia , Vitamina B 12/uso terapêutico , Brasil/epidemiologia , Levodopa/efeitos adversos , Levodopa/uso terapêutico , Prevalência , Fatores de Risco , Exame Neurológico/métodos , Antiparkinsonianos/uso terapêuticoRESUMO
The purpose of this paper is to present the postoperative results obtained after full temporomandibular joint (TMJ) reconstruction employing the Biomet/Lorenz Microfixation TMJ replacement system (Jacksonville, FL, USA) in 300 patients (201 unilateral, 99 bilateral). Objective data (maximum inter-incisal opening; MIO) and subjective data (function and speech, diet, and pain) were collected preoperatively and at postoperative evaluations performed over a 10-year period (mean 3.5, standard deviation 2.1 years). The MIO measures were obtained using a calliper rule. Subjective data were evaluated using a visual analogue scale with scores ranging from 0 to 5 for each variable. The results were analyzed with the paired t-test (two-sided, α=5%). Each patient showed significant improvements for all of the variables at evaluation on postoperative day 7. The results for MIO, function and speech, and diet, showed improvements at each postoperative evaluation over a maximum of 3 years, with stabilization of the results from the fourth year. Complaints of pain decreased considerably up to the 1-month postoperative evaluation, and no patient reported severe pain at 6 months after surgery. The results presented show that the reconstruction of the TMJ through the installation of the Biomet/Lorenz system prosthesis is a safe and effective option for proper reestablishment of the joint and stomatognathic system function; significant long-term improvements in mandibular range of motion are promoted and pain levels decrease.
Assuntos
Artroplastia de Substituição/métodos , Prótese Articular , Articulação Temporomandibular/cirurgia , Adulto , Ligas , Artroplastia de Substituição/instrumentação , Parafusos Ósseos , Ligas de Cromo/química , Materiais Revestidos Biocompatíveis/química , Dieta , Feminino , Seguimentos , Humanos , Prótese Articular/classificação , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Medição da Dor , Dor Pós-Operatória/etiologia , Gases em Plasma/química , Polietilenos/química , Desenho de Prótese , Amplitude de Movimento Articular/fisiologia , Segurança , Fala/fisiologia , Transtornos da Articulação Temporomandibular/cirurgia , Titânio/química , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVES: To compare the efficacy and safety of three orthodontic treatment modalities for agenesis of maxillary lateral incisors: 1) closing the space with the reshaped canine substituting the lateral incisor, 2) opening the space with placement of a conventional fixed bridge, and 3) opening the space with placement of a single-unit implant and an implant-supported crown. SETTING: Brazilian Cochrane Center and Universidade Federal de São Paulo, Brazil. MATERIAL AND METHODS: The following databases were investigated: Cochrane Register of Controlled Trials (Edition 12, 2011), EMBASE (from 1974 to December 2011), MEDLINE (from 1965 to December 2011), LILACS (from 1966 to November 2011), and Odontology Brazilian Bibliography Database (from 1966 to November 2011). Conference abstracts, main Brazilian dissertations and theses databases, and reference lists were handsearched. This systematic review included randomized or quasi-randomized controlled trials (RCTs) including women aged 15 years or over and men aged 21 years or over who received one of the interventions stated above. Two observers independently evaluated all the studies regarding eligibility criteria and assessed the risk of bias of included studies. RESULTS: No studies were included in the review as no RCTs were found. Most of the evidence comes from case reports and narrative reviews on case reports and from three studies with a single post-intervention evaluation and non-comparable control groups with high risk of bias. CONCLUSIONS: There is no scientific evidence for any of the three most common types of treatment for agenesis of the maxillary lateral incisors. RCTs into this issue are still necessary.
Assuntos
Anodontia/terapia , Incisivo/anormalidades , Coroas , Implantes Dentários para Um Único Dente , Prótese Dentária Fixada por Implante , Prótese Parcial Fixa , Humanos , Fechamento de Espaço Ortodôntico , Técnicas de Movimentação DentáriaRESUMO
Avaliou-se o efeito da relação volumoso:concentrado e do tipo de volumoso nos rendimentos de carcaça e dos cortes comerciais, e sobre a composição dos tecidos e musculosidade da perna de 32 cordeiros Ile de France, terminados em confinamento, alimentados com silagem de milho ou cana-de-açúcar, em duas relações volumoso:concentrado: de 60:40 ou 40:60. Os cordeiros foram abatidos aos 32kg de peso corporal; calcularam-se o peso e o rendimento da carcaça quente (PCQ e RCQ). Após 24 horas de refrigeração, obtiveram-se o peso e o rendimento da carcaça fria (PCF e RCF), o rendimento verdadeiro e as perdas por resfriamento. As carcaças foram divididas em cinco cortes comerciais, paleta, lombo, perna, costelas e pescoço, e a perna foi dissecada em músculo, osso e gordura, calculando-se as relações músculo:osso e músculo:gordura, além do índice de musculosidade da perna. Os cordeiros alimentados com silagem de milho apresentaram maiores PCQ (16,05kg), PCF (15,61kg), RCQ (50,4 por cento) e RCF (49,0 por cento). O rendimento de lombo foi menor nos cordeiros alimentados com cana-de-açúcar (9,1 por cento). A cana-de-açúcar e a silagem de milho nas duas relações volumoso:concentrado estudadas não afetaram as proporções de osso, músculo e gordura e musculosidade da perna, e podem constituir a dieta desses animais sem diminuir as proporções desses tecidos, responsáveis pela qualidade da carne.(AU)
The effects of roughage:concentrate ratio and type of roughage were evaluated on the carcass yield and commercial cuts, and tissue composition and leg muscularity of 32 Ile de France lambs finished in feedlot and fed corn silage or sugar cane in two roughage:concentrate ratios: 60:40 or 40:60. The lambs were slaughtered with 32kg of body weight and the weight and yield of hot carcass (WHC and YHC) were determined. After refrigerated for 24h in cold camera, the weight and yield of cold carcass (WCC and YCC), real yield, and weight loss for cooling were obtained. The carcass was divided in five commercial cuts (shoulder, loin, leg, ribs, and neck), and the leg was dissected on muscle, bone, and fat, and the relations muscle:bone and muscle:fat and also the leg muscularity index were calculated. The lambs fed corn silage showed higher WHC (16.05kg), WCC (15.61kg), YHC (50.42 percent), and YCC (49.03 percent). The loin yield was lower in lambs fed sugar cane (9.11 percent). The sugar cane and corn silage in this two roughage:concentrate ratios did not affect the proportions of muscle, bone, and fat, and leg muscularity. Therefore, they can be used in diets for animals without reducing the proportions of these tissues, that are related to meat quality.(AU)
Assuntos
Animais , Ração Animal , Indústria Agropecuária , Silagem , Zea mays , Saccharum , OvinosRESUMO
Avaliou-se o efeito da relação volumoso:concentrado e do tipo de volumoso nos rendimentos de carcaça e dos cortes comerciais, e sobre a composição dos tecidos e musculosidade da perna de 32 cordeiros Ile de France, terminados em confinamento, alimentados com silagem de milho ou cana-de-açúcar, em duas relações volumoso:concentrado: de 60:40 ou 40:60. Os cordeiros foram abatidos aos 32kg de peso corporal; calcularam-se o peso e o rendimento da carcaça quente (PCQ e RCQ). Após 24 horas de refrigeração, obtiveram-se o peso e o rendimento da carcaça fria (PCF e RCF), o rendimento verdadeiro e as perdas por resfriamento. As carcaças foram divididas em cinco cortes comerciais, paleta, lombo, perna, costelas e pescoço, e a perna foi dissecada em músculo, osso e gordura, calculando-se as relações músculo:osso e músculo:gordura, além do índice de musculosidade da perna. Os cordeiros alimentados com silagem de milho apresentaram maiores PCQ (16,05kg), PCF (15,61kg), RCQ (50,4 por cento) e RCF (49,0 por cento). O rendimento de lombo foi menor nos cordeiros alimentados com cana-de-açúcar (9,1 por cento). A cana-de-açúcar e a silagem de milho nas duas relações volumoso:concentrado estudadas não afetaram as proporções de osso, músculo e gordura e musculosidade da perna, e podem constituir a dieta desses animais sem diminuir as proporções desses tecidos, responsáveis pela qualidade da carne.
The effects of roughage:concentrate ratio and type of roughage were evaluated on the carcass yield and commercial cuts, and tissue composition and leg muscularity of 32 Ile de France lambs finished in feedlot and fed corn silage or sugar cane in two roughage:concentrate ratios: 60:40 or 40:60. The lambs were slaughtered with 32kg of body weight and the weight and yield of hot carcass (WHC and YHC) were determined. After refrigerated for 24h in cold camera, the weight and yield of cold carcass (WCC and YCC), real yield, and weight loss for cooling were obtained. The carcass was divided in five commercial cuts (shoulder, loin, leg, ribs, and neck), and the leg was dissected on muscle, bone, and fat, and the relations muscle:bone and muscle:fat and also the leg muscularity index were calculated. The lambs fed corn silage showed higher WHC (16.05kg), WCC (15.61kg), YHC (50.42 percent), and YCC (49.03 percent). The loin yield was lower in lambs fed sugar cane (9.11 percent). The sugar cane and corn silage in this two roughage:concentrate ratios did not affect the proportions of muscle, bone, and fat, and leg muscularity. Therefore, they can be used in diets for animals without reducing the proportions of these tissues, that are related to meat quality.
Assuntos
Animais , Ração Animal , Indústria Agropecuária , Silagem , Saccharum , Ovinos , Zea maysRESUMO
The objective of this study was the evaluation of the genetic diversity found in HBV circulating among Venezuelan Amerindians and the general population in Colombia. Phylogenetic analysis of the S region in 194 isolates showed that genotype F is highly predominant in Colombia and Venezuela. This might be related to the genetic background of the population. F3 is the main subgenotype which circulates in both countries. Phylogenetic analysis of 61 complete genome sequences of HBV American genotypes confirms the presence of two genotypes F and H, and 4 F subgenotypes. In Venezuela, subgenotypes F1, F2, and F3 circulate in East and West Amerindians, while only F3 was found among South Amerindians. Japreira community derived from Yucpa Amerindians around 150 years ago. However, several Japreira HBV sequences were forming a clade that can be classified as subgenotype 2b, differing from Yucpa sequences that belong mainly to subgenotype F3. The apparent absence of correlation between the phylogenetic groupings of HBV isolates with the ethnical origin in aboriginal populations might be suggesting a recent origin of HBV American subgenotypes, or a genetic drift effect.