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1.
Pest Manag Sci ; 80(4): 2154-2161, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38153938

RESUMEN

BACKGROUND: Rice is one of the most consumed cereals in the world. Productivity losses are caused by different biotic stresses. One of the most common is the phytophagous mite Schizotetranychus oryzae Rossi de Simons (Acari: Tetranychidae), which inhibits plant development and seed production. The identification of plant defense proteins is important for a better understanding of the mite-plant interaction. We previously detected a high expression of Osmotin1 protein in mite-resistant rice cultivars, under infested conditions, suggesting it could be involved in plant defense against mite attack. We therefore aimed to evaluate the responses of three rice lines overexpressing Osmotin1 (OSM1-OE) and three lines lacking the Osmotin1 gene (osm1-ko) to mite attack. RESULTS: The numbers of individuals (adults, immature stages, and eggs) were significantly lower in OSM1-OE lines than those in wild-type (WT) plants. On the other hand, the osm1-ko lines showed larger numbers of mites per leaf than WT plants. When plants reached the full maturity stage, two out of the three infested OSM1-OE lines presented lower plant height than WT, while the three osm1-ko lines (infested or not) presented higher plant height than WT. The reduction in seed number caused by mite infestation was lower in OSM1-OE lines (12-19%) than in WT plants (34%), while osm1-ko lines presented higher reduction (24-54%) in seed number than WT plants (13%). CONCLUSION: These data suggest that Osmotin1 is involved in rice resistance to S. oryzae infestation. This is the first work showing increased plant resistance to herbivory overexpressing an Osmotin gene. © 2023 Society of Chemical Industry.


Asunto(s)
Infestaciones por Ácaros , Ácaros , Oryza , Tetranychidae , Humanos , Animales , Tetranychidae/genética , Tetranychidae/metabolismo , Oryza/genética , Oryza/metabolismo , Ácaros/fisiología , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo
2.
PLoS One ; 18(9): e0289362, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37676872

RESUMEN

Waste management practices are vital for human health and the environment in a world where natural resources stress is expected to increase with the growth of population. Our study aimed to evaluate the potential use of crop-livestock residue as a bulking agent associated with the ideal level of hydrated lime for the stabilization and sanitization of urban sewage sludge through the alkalization-composting process. Therefore, we determined the alkalization efficiency on the heavy metal concentration in urban sewage sludge, quantified the viable eggs of helminths in pure and alkalized sludge, and measured the rate of earthworms (Eisenia fetida) surviving in the vermicomposting process using different levels of alkalized urban sewage sludge associated with crop-livestock residue. Four sequential trials were carried out in a completely randomized design with three replicates. The lime alkalization reduced the levels of Ba, As, Pb, Cu, Cr, Mo, Ni, and Zn compared to the pure urban sewage sludge. Using 30% w/w of lime in the urban sewage sludge (SS-30) for composting process reduced the viable helminth eggs by 71, 72, and 69% for sugarcane bagasse (Saccharum officinarum; SB), fresh chopped Napier-grass (Pennisetum purpureum; NG), and bovine ruminal content (BR), respectively. The ideal level of hydrated lime for stabilization and sanitization of urban sewage sludge was found to be 30%, which was able to reduce the heavy metals. The residues have the potential as a bulking agent for the composting of urban sewage sludge when associated with alkalization. The lime alkalization decreases the total number of helminth eggs and the number of viable eggs. The possibility of starting a vermicomposting using the mixtures is promising, evidenced by the earthworm survival in composting urban sewage sludge mixed with crop-livestock residues after 45 days of composting. The earthworm survival is maintained by an association of at least 80% of the crop-livestock residues.


Asunto(s)
Cenchrus , Compostaje , Oligoquetos , Saccharum , Animales , Bovinos , Humanos , Celulosa , Ganado , Aguas del Alcantarillado
3.
Cerebellum ; 22(4): 708-718, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35796998

RESUMEN

Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research. The number of ataxics under current care per 100,000 inhabitants was subtracted from the expected overall prevalence of 6/100,000, to estimate the prevalence of uncovered ataxic patients. Local Human Development Indexes (HDI) were used to measure socio-economic factors. Twenty-six sites participated. Twelve sites had very high, 13 had high, and one site had medium HDI. Participants reported on 2239 and 602 patients with spinocerebellar ataxias and recessive forms under current care. The number of patients under current care per inhabitants varied between 0.14 and 12/100,000. The estimated prevalence of uncovered ataxic patients was inversely proportional to HDIs (rho = 0.665, p = 0.003). Access to diagnosis, pre-symptomatic tests, and rehabilitation were associated with HDIs. More and better molecular diagnostic tools, protocols and guidelines, and professional training for ataxia care were the top priorities common to all respondents. Evidence of inequalities was confirmed. Lower HDIs were associated with high potential numbers of uncovered ataxic subjects, and with lack of molecular diagnosis, pre-symptomatic testing, and rehabilitation. More and better diagnostic tools, guidelines, and professional training were priorities to all sites. PAHAN consortium might help with the last two tasks.


Asunto(s)
Ataxia Cerebelosa , Ataxias Espinocerebelosas , Degeneraciones Espinocerebelosas , Humanos , Ataxia , Degeneraciones Espinocerebelosas/epidemiología , Ataxias Espinocerebelosas/diagnóstico , Ataxias Espinocerebelosas/epidemiología , Ataxias Espinocerebelosas/genética , Región del Caribe/epidemiología
4.
PLoS One ; 17(11): e0277036, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36395102

RESUMEN

Pain is an experience of a subjective nature, interpreted in a personal way and according to an extensive palette of factors unique to each individual. Orofacial pain can be acute or chronic and it is usually the main reason for the patient to seek dental care. Pain perception varies widely among individuals. This variability is considered a mosaic of factors, which include biopsychosocial factors and genetic factors. Understanding these differences can be extremely beneficial for pain management in a personalized and more efficient way. We performed association studies to investigate phenotypes associated with genetic markers in pain-related genes in two groups of patients who received more or less anesthesia during dental treatment. The study group was comprised of 1289 individuals participating in the Dental Registry and DNA Repository Project (DRDR) of the University of Pittsburgh, with 900 participants in the group that received the most anesthesia and 389 constituting the comparison group that received less anesthesia. We tested 58 phenotypes and genotypic data of seven SNPs in genes that are associated with pain perception, pain modulation and response to drugs used in pain treatment: COMT (rs4818 and rs6269), GCH1 (rs3783641), DRD2 (rs6276), OPRM1 (rs1799971), SCN9A (rs6746030) and SCN10A (rs6795970). The analysis revealed a protective effect of rs1799971 on asthma in the total sample. rs3783641 was associated with salivary secretion disorders in females who received more anesthesia. rs1799971 was also associated with periodontitis in Whites who received less anesthesia. rs4818 was associated with disease and other tongue conditions in the group composed of Blacks who received less anesthesia. In conclusion, our study implicated variants in pain-related genes in asthma and oral phenotypes.


Asunto(s)
Asma , Catecol O-Metiltransferasa , Femenino , Humanos , Catecol O-Metiltransferasa/genética , Salud Bucal , Genética Inversa , Percepción del Dolor , Dolor/genética , Asma/genética , Canal de Sodio Activado por Voltaje NAV1.7/genética
6.
J Sports Sci ; 40(13): 1458-1466, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35678190

RESUMEN

The objective of this study was to identify parameters that best discriminate between selected and non-selected players for the Brazilian under-19 men's volleyball team and propose mathematical models to identify high-performance players. To this end, 18 selected (16.89±0.96 years) and 138 non-selected (16.91±0.74 years) players for the under-19 team were assessed for the training profile, anthropometric profile, and physical performance level. The discriminant function analysis was used to build the models, with a significance of α<0.05. The spike jump reach showed a greater correlation with the discriminant scores obtained in the two models (r=0.701; r=0.782). The 10 variables included in Model 1 helped identify 88.9% of the players selected in their group of origin; Model 2 - obtained by the spike jump reach and duration of playing experience - identified 83.3% of the players selected. Therefore, coaches should be aware that differences between the selected and non-selected players are multi-factorial, with the spike jump reach being the most relevant assessment factor. Furthermore, good players for the selection can be identified using the two models: Model 1 promises greater success with ten assessments, whereas Model 2 allows the identification of suitable players for the under-19 men's volleyball team with only two simple assessments.


Asunto(s)
Rendimiento Atlético , Voleibol , Antropometría , Brasil , Humanos , Masculino , Modelos Teóricos
7.
J Am Nutr Assoc ; 41(4): 352-359, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-33683168

RESUMEN

OBJECTIVE: To analyze the impact of the CHILD-2 diet on the lipid profile of Brazilian children and adolescents with dyslipidemia. METHODS: This is a quasi-experimental study, where 149 participants (5-17 years) with mild-to-moderate hypercholesterolemia were divided into two groups (GI: low or normal weight; n = 58 and GII: overweight; n = 91). Both groups underwent the CHILD-2 diet, characterized by 25-30% total fat and less than 7% of low-saturated fat (SF) for 6 months. Changes from baseline in the lipid profile, including Total cholesterol (TC), LDL-C, triacylglycerols and glucose concentrations, dietary and anthropometric data were examined at 3 and 6 months. Longitudinal analyses were performed using linear mixed-effects models in SAS. RESULTS: Serum LDL-C concentrations reduced over time compared with baseline (Δ = -5.1 mg/dL; p < 0.01), with no difference between groups (p = 0.35). TC concentrations decreased by -2.0 mg/dL (p < 0.01); but no difference was observed between groups. We found no significant changes in body mass index/age Z scores after a dietary intervention compared with baseline in both groups (p = 0.94). CONCLUSION: Despite the modest reduction, our findings confirm that children with dyslipidemia can benefit from the CHILD-2 diet combined with a healthy lifestyle.


Asunto(s)
Dislipidemias , Adolescente , Brasil/epidemiología , Niño , LDL-Colesterol , Dieta con Restricción de Grasas , Humanos , Estilo de Vida
8.
Mol Syndromol ; 12(4): 219-233, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34421500

RESUMEN

Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the SHH, SIX3, ZIC2, and TGIF1 genes explain ∼25% of the known causes of nonchromosomal HPE. We studied these 4 genes and clinically described 27 Latin American families presenting with nonchromosomal HPE. Three new SHH variants and a third known SIX3 likely pathogenic variant found by Sanger sequencing explained 15% of our cases. Genotype-phenotype correlation in these 4 families and published families with identical or similar driver gene, mutated domain, conservation of residue in other species, and the type of variant explain the pathogenicity but not the phenotypic variability. Nine patients, including 2 with SHH pathogenic variants, presented benign variants of the SHH, SIX3, ZIC2, and TGIF1 genes with potential alteration of splicing, a causal proposition in need of further studies. Finding more families with the same SIX3 variant may allow further identification of genetic or environmental modifiers explaining its variable phenotypic expression.

9.
Orphanet J Rare Dis ; 16(1): 238, 2021 05 22.
Artículo en Inglés | MEDLINE | ID: mdl-34022924

RESUMEN

BACKGROUND: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme ß-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. METHODS: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the "MPS Brazil Network" who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. CONCLUSIONS: This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.


Asunto(s)
Mucopolisacaridosis VII , Brasil/epidemiología , Humanos , Mucopolisacaridosis VII/genética , Mutación , Estudios Retrospectivos
10.
Am J Med Genet C Semin Med Genet ; 187(3): 349-356, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33960103

RESUMEN

Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity and a complex genotype-phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020. We genotyped 280 of these patients (55.9%), which were assigned to 206 different families. Point mutations were present in 70% of our patients, being missense variants the most frequent. We correlated the IDS pathogenic variants identified with the phenotype (neuronophatic or non-neuronopathic). Except for two half-brothers, there was no discordance in the genotype-phenotype correlation among family members, nor among MPS II patients from different families with the same single base-pair substitution variant. Mothers were carriers in 82.0% of the cases. This comprehensive study of the molecular profile of the MPS II cases in Brazil sheds light on the genotype-phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, enabling the provision of a more refined genetic counseling to the affected families.


Asunto(s)
Mucopolisacaridosis II , Brasil , Genotipo , Humanos , Masculino , Mucopolisacaridosis II/genética , Mutación , Fenotipo
11.
Crit Rev Biotechnol ; 41(6): 809-826, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33622142

RESUMEN

Pigments from microorganisms have triggered great interest in the market, mostly by their "natural" appeal, their favorable production conditions, in addition to the potential new chemical structures or naturally overproducing strains. They have been used in: food, feed, dairy, textile, pharmaceutical, and cosmetic industries. The high rate of pigment production in microorganisms recovered from Antarctica in response to selective pressures such as: high UV radiation, low temperatures, and freezing and thawing cycles makes this a unique biome which means that much of its biological heritage cannot be found elsewhere on the planet. This vast arsenal of pigmented molecules has different functions in bacteria and may exhibit different biotechnological activities, such as: extracellular sunscreens, photoprotective function, antimicrobial activity, biodegradability, etc. However, many challenges for the commercial use of these compounds have yet to be overcome, such as: the low stability of natural pigments in cosmetic formulations, the change in color when subjected to pH variations, the low yield and the high costs in their production. This review surveys the different types of natural pigments found in Antarctic bacteria, classifying them according to their chemical structure. Finally, we give an overview of the main pigments that are used commercially today.


Asunto(s)
Bacterias , Biotecnología , Regiones Antárticas
12.
Braz J Cardiovasc Surg ; 36(3): 388-396, 2021 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-33355811

RESUMEN

INTRODUCTION: The present study intends to systematically review the literature on the use of extracorporeal membrane oxygenation (ECMO) in patients with coronavirus disease 2019 (COVID-19). METHODS: The research was carried out according to the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA). Studies were selected from PubMed/MEDLINE and LILACS databases between December 2019 and May 17 2020, using the descriptors "ECMO AND COVID-19", "Extracorporeal Membrane Oxygenation AND COVID-19", "ECLS AND COVID-19", and "Extracorporeal Life Support AND COVID-19". Exclusion criteria were government epidemiological bulletins, comments, literature reviews, and articles without full access to content. RESULTS: Two hundred and thirty-three scientific productions were found, however only 18 did not met the exclusion criteria and could be included in this study, amouting to a total of 911 patients - 624 (68.5%) men, 261 (28.6%) women, and 26 (2.8%) without sex information. The mean age of the patients was 53.7 years. ECMO was necessary in 274 (30.1%) people (200 [73%] submitted to veno-venous ECMO, nine [3.3%] to veno-arterial ECMO, and seven [2.5%] moved between these two types or needed a more specific ECMO according to the disease prognosis). Five studies did not specify the type of ECMO used, amounting 57 (20.8%) patients. Five patients (1.8%) were discharged, 77 (28.1%) died, 125 (45.6%) remained hospitalized until publication time of their respective studies, and 67 patients (24.4%) had no outcome information. CONCLUSION: It is evident that more research, covering larger populations, must be carried out in order to clearly elucidate the role of ECMO in the treatment of COVID-19.


Asunto(s)
COVID-19 , Oxigenación por Membrana Extracorpórea , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , SARS-CoV-2
13.
Genes (Basel) ; 12(1)2020 12 25.
Artículo en Inglés | MEDLINE | ID: mdl-33375644

RESUMEN

Phenylketonuria (PKU) is a common inborn error of amino acid metabolism in which the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine, is functionally impaired due to pathogenic variants in the PAH gene. Thirty-four Brazilian patients with a biochemical diagnosis of PKU, from 33 unrelated families, were analyzed through next-generation sequencing in the Ion Torrent PGM™ platform. Phenotype-genotype correlations were made based on the BioPKU database. Three patients required additional Sanger sequencing analyses. Twenty-six different pathogenic variants were identified. The most frequent variants were c.1315+1G>A (n = 8/66), c.473G>A (n = 6/66), and c.1162G>A (n = 6/66). One novel variant, c.524C>G (p.Pro175Arg), was found in one allele and was predicted as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG) criteria. The molecular modeling of p.Pro175Arg indicated that this substitution can affect monomers binding in the PAH tetramer, which could lead to a change in the stability and activity of this enzyme. Next-generation sequencing was a fast and effective method for diagnosing PKU and is useful for patient phenotype prediction and genetic counseling.


Asunto(s)
Pruebas Genéticas/métodos , Fenilalanina Hidroxilasa/genética , Fenilcetonurias/diagnóstico , Brasil , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Asesoramiento Genético/métodos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Recién Nacido , Masculino , Modelos Moleculares , Mutación , Fenilcetonurias/genética , Estructura Terciaria de Proteína/genética
14.
J Bras Pneumol ; 45(3): e20180314, 2019 Jun 27.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-31271604

RESUMEN

Smoking is the leading cause of respiratory disease (RD). The harmful effects of smoking on the respiratory system begin in utero and influence immune responses throughout childhood and adult life. In comparison with "healthy" smokers, smokers with RD have peculiarities that can impede smoking cessation, such as a higher level of nicotine dependence; nicotine withdrawal; higher levels of exhaled carbon monoxide; low motivation and low self-efficacy; greater concern about weight gain; and a high prevalence of anxiety and depression. In addition, they require more intensive, prolonged treatment. It is always necessary to educate such individuals about the fact that quitting smoking is the only measure that will reduce the progression of RD and improve their quality of life, regardless of the duration and severity of the disease. Physicians should always offer smoking cessation treatment. Outpatient or inpatient smoking cessation treatment should be multidisciplinary, based on behavioral interventions and pharmacotherapy. It will thus be more effective and cost-effective, doubling the chances of success.


Asunto(s)
Enfermedades Respiratorias/etiología , Enfermedades Respiratorias/terapia , Cese del Hábito de Fumar , Fumar/efectos adversos , Tabaquismo/complicaciones , Humanos , Neoplasias Pulmonares/etiología , Neoplasias Pulmonares/terapia , Enfermedad Pulmonar Obstructiva Crónica/etiología , Enfermedad Pulmonar Obstructiva Crónica/terapia , Factores de Riesgo , Tabaquismo/terapia , Tuberculosis Pulmonar/etiología , Tuberculosis Pulmonar/terapia
16.
Arq Neuropsiquiatr ; 77(2): 73-79, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30810589

RESUMEN

Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.


Asunto(s)
Glucosilceramidasa/genética , Mutación/genética , Enfermedad de Parkinson/genética , Adulto , Edad de Inicio , Anciano , Anciano de 80 o más Años , Brasil , Estudios de Casos y Controles , Estudios Transversales , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo
17.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;77(2): 73-79, Feb. 2019. tab, graf
Artículo en Inglés | LILACS | ID: biblio-983882

RESUMEN

ABSTRACT Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.


RESUMO Mutações no gene GBA têm sido reportadas em pacientes com doença de Parkinson (DP) em diferentes países, incluindo o Brasil. Com o objetivo de confirmar esse padrão em uma amostra de pacientes com DP provenientes do Norte brasileiro, foi conduzindo esse estudo caso-controle investigando a frequência das duas mutações mais comuns do gene GBA (c.1226A>G; p.N370S e c.1448T>C; p.L444P) em um grupo de 81 pacientes com DP e 81 controles, usando PCR-RFLP e confirmado pelo sequenciamento direto de produtos de PCR. No grupo experimental, três pacientes (3,7%) foram heterozigotos para a mutação c.1226A>G; p.N370S e três (3,7%), para a mutação c.1448T>C; p.L444P Nenhuma das duas mutações foi detectada no grupo controle (p =0,0284). Pacientes com a mutação c.1448T>C; p.L444P demonstraram uma tendência a apresentar os sintomas mais precocemente, porém um número amostrai maior é necessário para confirmar essa observação. Nossos resultados sugerem uma associação entre essas duas mutações no gene GBA e o desenvolvimento de DP na população de pacientes do norte Brasileiro.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Enfermedad de Parkinson/genética , Glucosilceramidasa/genética , Mutación/genética , Polimorfismo de Longitud del Fragmento de Restricción , Brasil , Estudios de Casos y Controles , Reacción en Cadena de la Polimerasa , Estudios Transversales , Factores de Riesgo , Edad de Inicio , Estudios de Asociación Genética
18.
Cleft Palate Craniofac J ; 56(1): 134-140, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-29649372

RESUMEN

OBJECTIVE: To compare the outcomes of 2 different bone graft materials: autogenous bone grafts from mandibular symphysis and bovine bone grafts associated with platelet-rich plasma (PRP). METHODS: Twenty individuals met the inclusion criteria and accepted to participate in the study. Group A patients underwent alveolar bone grafting using autologous bone and group B patients using a bovine bone graft associated with PRP. Cone beam computed tomography scans were taken and reconstructed 3-dimensionally for all patients preoperatively and 1 year postoperatively. RESULTS: A significant reduction was detected for area and volume within group A and group B. Between groups, no significant difference was found for area or volume. CONCLUSIONS: Bovine grafts associated with PRP are a good option for the reconstruction of alveolar clefts and provide good results such as autologous bone grafts.


Asunto(s)
Trasplante Óseo , Fisura del Paladar , Plasma Rico en Plaquetas , Animales , Bovinos , Fisura del Paladar/cirugía , Humanos , Proyectos Piloto
19.
J. bras. pneumol ; J. bras. pneumol;45(3): e20180314, 2019. tab
Artículo en Inglés | LILACS | ID: biblio-1012558

RESUMEN

ABSTRACT Smoking is the leading cause of respiratory disease (RD). The harmful effects of smoking on the respiratory system begin in utero and influence immune responses throughout childhood and adult life. In comparison with "healthy" smokers, smokers with RD have peculiarities that can impede smoking cessation, such as a higher level of nicotine dependence; nicotine withdrawal; higher levels of exhaled carbon monoxide; low motivation and low self-efficacy; greater concern about weight gain; and a high prevalence of anxiety and depression. In addition, they require more intensive, prolonged treatment. It is always necessary to educate such individuals about the fact that quitting smoking is the only measure that will reduce the progression of RD and improve their quality of life, regardless of the duration and severity of the disease. Physicians should always offer smoking cessation treatment. Outpatient or inpatient smoking cessation treatment should be multidisciplinary, based on behavioral interventions and pharmacotherapy. It will thus be more effective and cost-effective, doubling the chances of success.


RESUMO O tabagismo é o maior responsável pelas doenças respiratórias (DR). Os efeitos nocivos do tabaco sobre o aparelho respiratório se iniciam ainda intraútero e influenciam as respostas imunológicas ao longo da infância e vida adulta. Os tabagistas com DR possuem peculiaridades que podem dificultar a cessação tabágica, tais como maior grau de dependência e de abstinência de nicotina; níveis mais elevados de monóxido de carbono exalado; motivação e autoeficácia baixas; maior preocupação com ganho ponderal; e elevada prevalência de ansiedade e depressão. Além disso, requerem tratamento mais intensivo e prolongado. É necessário esclarecer sempre o paciente sobre o fato de que parar de fumar será a única medida que irá reduzir a progressão das DR e melhorar sua qualidade de vida, independentemente do tempo e da gravidade da doença. Os médicos devem sempre oferecer o tratamento de cessação tabágica. O tratamento ambulatorial ou hospitalar deve ser multidisciplinar, baseado em intervenções comportamentais e farmacoterapia, sendo eficaz e custo-efetivo, dobrando as chances de sucesso.


Asunto(s)
Humanos , Enfermedades Respiratorias/etiología , Enfermedades Respiratorias/terapia , Tabaquismo/complicaciones , Fumar/efectos adversos , Cese del Hábito de Fumar , Tabaquismo/terapia , Tuberculosis Pulmonar/etiología , Tuberculosis Pulmonar/terapia , Factores de Riesgo , Enfermedad Pulmonar Obstructiva Crónica/etiología , Enfermedad Pulmonar Obstructiva Crónica/terapia , Neoplasias Pulmonares/etiología , Neoplasias Pulmonares/terapia
20.
Rev. odontol. UNESP (Online) ; 47(5): 321-327, Sept.-Oct. 2018. tab, ilus
Artículo en Portugués | LILACS, BBO - Odontología | ID: biblio-985720

RESUMEN

Introdução: Diante da alta incidência das doenças cardiovasculares, muitos são os pacientes que fazem uso de medicações para prevenção e tratamento dessas desordens. Consequentemente, o número de pessoas em uso de anticoagulantes orais a serem submetidas a tratamento odontológico é crescente e o manejo desses indivíduos requer criteriosa avaliação da condição clínica e do procedimento a ser realizado. Objetivo: Avaliar o nível de conhecimento de cirurgiões-dentistas e graduandos em Odontologia quanto ao manejo de indivíduos em uso de anticoagulantes orais a serem submetidos a tratamento odontológico. Material e método: Investigação descritiva, quantitativa, de corte transversal, com base em um questionário respondido por 100 indivíduos, sendo 70 cirurgiões-dentistas e 30 graduandos do curso de Odontologia, escolhidos por conveniência, para avaliar o conhecimento sobre o tema proposto. Para comparação das variáveis quantitativas, foi utilizado o Teste t de student, para comparação de duas amostras, e o Teste ANOVA, com pós-teste de Bonferroni, para comparação de três amostras. Resultado: Dentre os entrevistados, 74,5% dos cirurgiões-dentistas e 54,2% dos graduandos relataram já ter atendido um paciente que faz uso de anticoagulante oral. Não houve diferença estatística quanto ao desempenho entre profissionais e alunos acerca do manejo odontológico de pacientes em uso de anticoagulantes. Dentre o grupo de cirurgiões-dentistas, os profissionais da cirurgia bucomaxilofacial e os que fizeram residência multiprofissional apresentaram melhor desempenho quando comparados aos clínicos gerais. Conclusão: Pôde-se concluir que, para os grupos estudados, o manejo de pessoas em uso de anticoagulantes orais ainda é um desafio.


Introduction: Cardiovascular diseases have a high incidence and due to that there is a large amount of patients who take medications for prevention and treatment of these disorders. Consequently, the number of people to be submitted to dental treatment and also under oral anticoagulant therapy is increasing and the management of these individuals requires a careful evaluation of the clinical condition and the procedure to be performed. Objective: To evaluate the level of knowledge of dentists and undergraduate dental students in the management of individuals using oral anticoagulants to be submitted to dental treatment. Material and method: Descriptive, quantitative, cross-sectional study based on a questionnaire answered by 100 individuals (70 dentists and 30 undergraduate dental students), chosen for convenience to evaluate their knowledge about the proposed topic. To compare the quantitative variables, the Student's T test was used to compare two samples and the ANOVA test with Bonferroni's post test to compare three samples. Result: Among the interviewees, 74.5% of dental surgeons and 54.2% of undergraduates reported having attended a patient under oral anticoagulant therapy. There was no statistical difference regarding the performance between professionals and students in the dental management of patients taking anticoagulants. Among the group of dental surgeons, the professionals of the bucomaxillofacial surgery and those who had multiprofessional residency presented better performance when compared to the general practitioners. Conclusion: The management of patients using oral anticoagulants stills a challenge for the groups studied.


Asunto(s)
Estudiantes de Odontología , Inhibidores de Agregación Plaquetaria , Enfermedades Cardiovasculares/prevención & control , Atención Odontológica , Odontólogos , Anticoagulantes , Análisis de Varianza
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