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1.
Braz J Med Biol Res ; 56: e12898, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37937601

RESUMO

Scoliosis is a condition that affects the spine and causes chest rotation and trunk distortion. Individuals with severe deformities may experience dyspnea on exertion and develop respiratory failure. Respiratory oscillometry is a simple and non-invasive method that provides detailed information on lung mechanics. This work aims to investigate the potential of oscillometry in the evaluation of respiratory mechanics in patients with scoliosis and its association with physical performance. We analyzed 32 volunteers in the control group and 32 in the scoliosis group. The volunteers underwent traditional pulmonary function tests, oscillometry, and the 6-minute walk test (6MWT). Oscillometric analysis showed increased values of resistance at 4 Hz (R4, P<0.01), 12 Hz (R12, P<0.0001), and 20 Hz (R20, P<0.01). Similar analysis showed reductions in dynamic compliance (Cdyn, P<0.001) and ventilation homogeneity, as evaluated by resonance frequency (fr, P<0.001) and reactance area (Ax, P<0.001). Respiratory work, described by the impedance modulus, also showed increased values (Z4, P<0.01). Functional capacity was reduced in the group with scoliosis (P<0.001). A significant direct correlation was found between Cobb angle and R12, AX, and Z4 (P=0.0237, P=0.0338, and P=0.0147, respectively), and an inverse correlation was found between Cdyn and Cobb angle (P=0.0190). These results provided new information on respiratory mechanics in scoliosis and are consistent with the involved pathophysiology, suggesting that oscillometry may improve lung function tests for patients with scoliosis.


Assuntos
Escoliose , Humanos , Oscilometria/métodos , Pulmão , Testes de Função Respiratória/métodos , Mecânica Respiratória/fisiologia
2.
Int J Biol Macromol ; 253(Pt 6): 127281, 2023 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-37806422

RESUMO

Hydrogels made with depolymerized guar gum, oxidized with theoretical oxidation degrees of 20, 35 and 50 %, were obtained via Schiff's base reaction with N-succinyl chitosan. The materials obtained were subjected to characterization by FT-IR, rheology, swelling, degradation, and morphology. Additionally, their gelation time categorized all three hydrogels as injectable. The materials' swelling degrees in Phosphate-Buffered Saline (PBS) were in the range of 26-35 g of fluid/g gel and their pore size distribution was heterogeneous, with pores varying from 67 to 93 µm. All hydrogels degraded in PBS solution, but maintained around 40 % of their initial mass after 28 days, which was more than enough time for wound healing. The biomaterials were also flexible, self-repairing, adhesive and cytocompatible and presented intrinsic actions, regardless of the presence of additives or antibiotics, against gram-positive (Staphylococcus aureus, Staphylococcus epidermidis) and gram-negative bacteria (Escherichia coli). However, the most pronounced bactericidal effect was against resistant Staphylococcus aureus - MRSA. In vivo assays, performed with 50 % oxidized gum gel, demonstrated that this material exerted anti-inflammatory effects, accelerating the healing process and restoring tissues by approximately 99 % within 14 days. In conclusion, these hydrogels have unique characteristics, making them excellent candidates for wound-healing dressings.


Assuntos
Quitosana , Staphylococcus aureus Resistente à Meticilina , Hidrogéis/farmacologia , Quitosana/farmacologia , Espectroscopia de Infravermelho com Transformada de Fourier , Bandagens , Bactérias , Antibacterianos/farmacologia , Staphylococcus aureus
3.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;56: e12898, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1520471

RESUMO

Scoliosis is a condition that affects the spine and causes chest rotation and trunk distortion. Individuals with severe deformities may experience dyspnea on exertion and develop respiratory failure. Respiratory oscillometry is a simple and non-invasive method that provides detailed information on lung mechanics. This work aims to investigate the potential of oscillometry in the evaluation of respiratory mechanics in patients with scoliosis and its association with physical performance. We analyzed 32 volunteers in the control group and 32 in the scoliosis group. The volunteers underwent traditional pulmonary function tests, oscillometry, and the 6-minute walk test (6MWT). Oscillometric analysis showed increased values of resistance at 4 Hz (R4, P<0.01), 12 Hz (R12, P<0.0001), and 20 Hz (R20, P<0.01). Similar analysis showed reductions in dynamic compliance (Cdyn, P<0.001) and ventilation homogeneity, as evaluated by resonance frequency (fr, P<0.001) and reactance area (Ax, P<0.001). Respiratory work, described by the impedance modulus, also showed increased values (Z4, P<0.01). Functional capacity was reduced in the group with scoliosis (P<0.001). A significant direct correlation was found between Cobb angle and R12, AX, and Z4 (P=0.0237, P=0.0338, and P=0.0147, respectively), and an inverse correlation was found between Cdyn and Cobb angle (P=0.0190). These results provided new information on respiratory mechanics in scoliosis and are consistent with the involved pathophysiology, suggesting that oscillometry may improve lung function tests for patients with scoliosis.

4.
Orphanet J Rare Dis ; 17(1): 302, 2022 07 30.
Artigo em Inglês | MEDLINE | ID: mdl-35907851

RESUMO

BACKGROUND: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual's quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries. METHODS: Searches of the global medical literature as well as regional and local medical literature up to September 2021. Observational studies on patients with PKU from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. RESULTS: 79 unique studies (47 cross-sectional studies, 18 case series, 12 case reports, and two cohort studies) with a total of 4090 patients were eligible. Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04-0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04-0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08-0.68; I2 = 93.9%, p < 0.0001; five studies; n = 162]. CONCLUSIONS: There is currently evidence of high clinical burden in PKU patients in LATAM countries. Recognition that there are many unmet neuropsychological needs and socioeconomic challenges faced in the LATAM countries is the first step in planning cost-effective interventions.


Assuntos
Fenilalanina Hidroxilase , Fenilcetonúrias , Estudos Transversais , Humanos , América Latina/epidemiologia , Fenilcetonúrias/complicações , Qualidade de Vida
5.
Environ Pollut ; 284: 117209, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-33932832

RESUMO

Contaminant levels are lower in Antarctica than elsewhere in the world because of its low anthropogenic activities. However, the northern region of the Antarctic Peninsula, is close to South America and experiences the greatest anthropogenic pressure in Antarctica. Here, we investigated, in two Antarctic Peninsula islands, intra and interspecific factors that influence the concentrations of 17 trace elements (TEs) in blood and feathers of three penguin species breeding sympatrically in relation to their trophic ecology assessed via a stable isotopic approach (C, N and S). Geographical location, foraging zone (δ13C and δ34S) and diet influences the interspecific difference, and sex and maturity stage diet influence the intraspecific difference of Pygoscelis penguins. Penguins from Livingston showed higher values (mean, ng. g-1, dry weight - dw) of Zn (103), Mn (0.3), and Fe (95) than those from King George Island (Zn: 80, Mn: 1.9, and Fe: 11). Gender-related differences were observed, as males showed significantly higher values (mean, ng. g-1, dw) of Rb (3.4) and δ15N in blood of gentoo, and Ca (1344) in Adélie feathers. Chicks of gentoo and Adélie presented higher Zn, Mg, Ca, and Sr and lower 13C values in blood than adults. The highest concentrations (mean, ng. g-1, dw) of Cd (0.2) and Cu (26), and the lowest δ15N values were found in chinstrap. Geographical, intraspecific (i.e., ontogenetic and gender-related) and interspecific differences in feeding seemed to have influenced TE and stable isotope values in these animals. The TE bioaccumulation by penguins may have also been influenced by natural enrichment in environmental levels of these elements, which seems to be the case for Fe, Zn, and Mn. However, the high level of some of the TEs (Mn, Cd, and Cr) may reflect the increase of local and global human activities.


Assuntos
Spheniscidae , Oligoelementos , Animais , Regiões Antárticas , Plumas/química , Humanos , Ilhas , Masculino , América do Sul , Oligoelementos/análise
6.
Int J Biol Macromol ; 176: 26-36, 2021 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-33529634

RESUMO

This study describes the development of scaffolds based on carboxyethyl chitosan (CEC) and different oxidized cashew gums (CGOx) for tissue engineering (TE) applications. After the physico-chemical characterizations of CEC and CGOx (oxidation degree of 20, 35 and 50%), these macromolecules were used for producing the CGOx-CEC hydrogels through a Schiff base reaction, in the absence of any crosslinking agent. The CGOx-CEC scaffolds obtained after a freeze-drying process were characterized for their morphology, mechanical properties, swelling ability, degradation, and porosity. Those revealed to be highly porous (25-65%), and showed a stable swelling behavior, as well as degradation properties in the absence of enzymes. The use of the cashew gum with higher degree of oxidation led to scaffolds with higher crosslinking densities and increased compressive modulus. None of the hydrogels show cytotoxicity during the 14 days of incubation. Considering all the properties mentioned, these scaffolds are excellent candidates for soft tissue regeneration, owing to the use of eco-friendly starting materials and the easy tuning of their properties.


Assuntos
Quitosana/análogos & derivados , Gomas Vegetais/química , Alicerces Teciduais/química , Anacardium/química , Animais , Materiais Biocompatíveis/síntese química , Materiais Biocompatíveis/química , Materiais Biocompatíveis/toxicidade , Fenômenos Biomecânicos , Linhagem Celular , Quitosana/síntese química , Quitosana/química , Força Compressiva , Reagentes de Ligações Cruzadas , Hidrogéis , Teste de Materiais , Camundongos , Microscopia Eletrônica de Varredura , Estrutura Molecular , Oxirredução , Gomas Vegetais/síntese química , Gomas Vegetais/toxicidade , Porosidade , Engenharia Tecidual , Alicerces Teciduais/efeitos adversos
7.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 1081-1084, May-June 2019. ilus
Artigo em Inglês | VETINDEX | ID: vti-25558

RESUMO

Uma avestruz-do-pescoço-vermelho, com dois anos de idade, apresentava um nódulo no terço médio do esôfago e foi submetida a procedimento cirúrgico. Histologicamente, observou-se uma área focalmente extensa de necrose estendendo-se da túnica mucosa à muscular, e, em algumas secções, à túnica adventícia. Circundando a área de necrose, observou-se uma reação inflamatória composta principalmente por granulócitos e macrófagos, associada à fibroplasia e neovascularização. Em meio às áreas de necrose e inflamação, verificavam-se numerosas imagens negativas de hifas em seções longitudinais e transversais, melhor apreciadas pela coloração de metenamina nitrato de prata de Grocott. O diagnóstico definitivo de infecção por Pythium insidiosum foi confirmado por imuno-histoquímica. A avestruz recebia água para consumo de um lago localizado em uma área de pastagem, no qual alguns cavalos haviam desenvolvido pitiose cutânea anteriormente.(AU)


Assuntos
Animais , Doenças das Aves , Transtornos de Deglutição/veterinária , Struthioniformes , Esofagite/veterinária , Pitiose/diagnóstico
8.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 1081-1084, May-June 2019. ilus
Artigo em Inglês | VETINDEX, LILACS | ID: biblio-1038592

RESUMO

Uma avestruz-do-pescoço-vermelho, com dois anos de idade, apresentava um nódulo no terço médio do esôfago e foi submetida a procedimento cirúrgico. Histologicamente, observou-se uma área focalmente extensa de necrose estendendo-se da túnica mucosa à muscular, e, em algumas secções, à túnica adventícia. Circundando a área de necrose, observou-se uma reação inflamatória composta principalmente por granulócitos e macrófagos, associada à fibroplasia e neovascularização. Em meio às áreas de necrose e inflamação, verificavam-se numerosas imagens negativas de hifas em seções longitudinais e transversais, melhor apreciadas pela coloração de metenamina nitrato de prata de Grocott. O diagnóstico definitivo de infecção por Pythium insidiosum foi confirmado por imuno-histoquímica. A avestruz recebia água para consumo de um lago localizado em uma área de pastagem, no qual alguns cavalos haviam desenvolvido pitiose cutânea anteriormente.(AU)


Assuntos
Animais , Doenças das Aves , Transtornos de Deglutição/veterinária , Struthioniformes , Esofagite/veterinária , Pitiose/diagnóstico
9.
Rev Soc Bras Med Trop ; 52: e20180371, 2019 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-30843967

RESUMO

INTRODUCTION: The levels of the full-length form of the (pro)renin receptor (PRR), a component of the renin-angiotensin system (RAS), may be reduced in the membranes of kidneys in renal diseases. This study aimed to investigate the RAS components in the kidneys of mice submitted to a combination of a high-fat diet and Schistosoma mansoni infection. METHODS: Female BALB/c mice were maintained on a control or high-fat diet from 3 weeks of age. After 10 weeks on the designated diets, half the mice in each group were infected with S. mansoni cercariae. The blood and kidneys were harvested 8 weeks after infection. RESULTS: The high-fat diet increased the number of eggs in the feces and the number of adult worms in the mesenteric bed. Schistosoma mansoni infection reduced the plasma levels of glucose, triglycerides, and HDL cholesterol in the control and high-fat diet groups. In mice on the control diet, S. mansoni infection resulted in increased expression of IL-6 in the kidneys; however, in mice on the high-fat diet, the levels of IL-6 were reduced and those of superoxide anions were increased. The RAS components evaluated were ACE2, renin, PRR, AT1R, and AT2R, and the levels of PRR were found to be reduced in the kidneys of infected mice on the high-fat diet. CONCLUSIONS: The finding regarding PRR is not yet clear. However, combining a high-fat diet and S. mansoni infection resulted in increased oxidative stress in the kidney that can aggravate hypertension as well as its associated complications.


Assuntos
Dieta Hiperlipídica/efeitos adversos , Rim/metabolismo , Obesidade/metabolismo , Sistema Renina-Angiotensina/fisiologia , Esquistossomose mansoni/complicações , Esquistossomose mansoni/metabolismo , Actinas/análise , Animais , Glicemia/análise , Peso Corporal/fisiologia , Colesterol/sangue , Feminino , Interleucina-6/análise , Rim/fisiopatologia , Camundongos Endogâmicos BALB C , Obesidade/fisiopatologia , Estresse Oxidativo/fisiologia , Distribuição Aleatória , Esquistossomose mansoni/fisiopatologia , Fatores de Tempo , Triglicerídeos/sangue , Fator de Necrose Tumoral alfa/análise
10.
J Appl Microbiol ; 126(5): 1426-1437, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30762925

RESUMO

AIMS: The aim of this study was to find new eukaryotic sources of the l-asparaginase (l-ASNase), since the prokaryotic sources of the enzyme are well-reported as causing allergic hypersensitivity reactions in a significant number of patients. This report describes screening for l-ASNase production by filamentous fungi isolated from the Brazilian Caatinga, and the optimization of fermentation parameters to increase fungal growth and improve yield in the production of l-ASNase. METHODS AND RESULTS: Thirty-two filamentous fungi were investigated in this study. When Aspergillus terreus strain S-18 was cultured in a proline-enriched medium, intracellular l-ASNase was expressed in concurrence with reduced l-glutaminase (l-GLUase) and protease activities. Fermentation conditions were then optimized in a 5-l bioreactor system to produce a maximum volumetric yield of 108 U total of l-ASNase activity. CONCLUSIONS: The work reported here represents the first attempt to produce l-ASNase by filamentous fungi isolated from Brazil and offers a promising alternative eukaryotic source for l-ASNase production. SIGNIFICANCE AND IMPACT OF THE STUDY: In order to minimize the side effects caused by bacterial l-ASNase, the search of eukaryotic micro-organism for l-ASNase was carried out in fungi. This study demonstrates the diversity of filamentous fungi isolated from the Brazilian Caatinga Biome and the importance of knowledge of the microbial metabolism to obtain high concentrations of biotechnological products.


Assuntos
Asparaginase , Aspergillus , Reatores Biológicos/microbiologia , Asparaginase/análise , Asparaginase/metabolismo , Aspergillus/química , Aspergillus/enzimologia , Aspergillus/metabolismo , Brasil , Microbiologia Ambiental , Fermentação , Florestas , Microbiota
11.
J Appl Microbiol ; 126(5): 1402-1413, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30659746

RESUMO

AIM: To screen and identify a potential biosurfactant-producing yeast strain isolated from Antarctic soil and to evaluate the fermentation process kinetics of the most promising strain on biosurfactant production using glycerol as carbon source. METHODS AND RESULTS: From the 68 isolated yeast strains, 11 strains were able to produce biosurfactants after Emulsification Index (E.I.) and Drop Collapse tests, reaching an E.I. higher than 10%. Strain 1_4.0 was the best producer, identified as Candida glaebosa based on molecular analysis. Yeast was cultivated in a medium composed of glycerol supplemented with yeast extract for 120 h to determine the process kinetics. The increased C/N ratio affected yeast growth and biosurfactant production. Biosurfactant release was associated with the end of exponential and beginning of the stationary growth phases. Results indicated an E.I. of 30% at the end of the fermentation. CONCLUSIONS: The feasiability of C. glaebosa to produce biosurfactant from a low-cost medium cultivation shows a great impact on the development of bioresource in the Antarctica terrestrial environment. SIGNIFICANCE AND IMPACT OF THE STUDY: Although the diversity of psychrophilic/psychrotolerant micro-organisms from Antarctica has been the preferred subject of study by microbiologists, terrestrial microfungal communities are scarcely investigated and literature about the biotechnological potential of such micro-organisms should cover important biomolecules in addition to cold-adapted enzymes. In the present study, for the first time, the Maritime Antarctica environment was screened as a novel source of biosurfactants produced by micro-organisms.


Assuntos
Candida/metabolismo , Microbiologia do Solo , Tensoativos/metabolismo , Regiões Antárticas , Candida/isolamento & purificação , Glicerol/metabolismo , Ilhas , Cinética , Tensoativos/isolamento & purificação , Leveduras/crescimento & desenvolvimento , Leveduras/isolamento & purificação , Leveduras/metabolismo
12.
Rev. Soc. Bras. Med. Trop ; Rev. Soc. Bras. Med. Trop;52: e20180371, 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-990443

RESUMO

Abstract INTRODUCTION: The levels of the full-length form of the (pro)renin receptor (PRR), a component of the renin-angiotensin system (RAS), may be reduced in the membranes of kidneys in renal diseases. This study aimed to investigate the RAS components in the kidneys of mice submitted to a combination of a high-fat diet and Schistosoma mansoni infection. METHODS: Female BALB/c mice were maintained on a control or high-fat diet from 3 weeks of age. After 10 weeks on the designated diets, half the mice in each group were infected with S. mansoni cercariae. The blood and kidneys were harvested 8 weeks after infection. RESULTS: The high-fat diet increased the number of eggs in the feces and the number of adult worms in the mesenteric bed. Schistosoma mansoni infection reduced the plasma levels of glucose, triglycerides, and HDL cholesterol in the control and high-fat diet groups. In mice on the control diet, S. mansoni infection resulted in increased expression of IL-6 in the kidneys; however, in mice on the high-fat diet, the levels of IL-6 were reduced and those of superoxide anions were increased. The RAS components evaluated were ACE2, renin, PRR, AT1R, and AT2R, and the levels of PRR were found to be reduced in the kidneys of infected mice on the high-fat diet. CONCLUSIONS: The finding regarding PRR is not yet clear. However, combining a high-fat diet and S. mansoni infection resulted in increased oxidative stress in the kidney that can aggravate hypertension as well as its associated complications.


Assuntos
Animais , Feminino , Sistema Renina-Angiotensina/fisiologia , Esquistossomose mansoni/complicações , Esquistossomose mansoni/metabolismo , Dieta Hiperlipídica/efeitos adversos , Rim/metabolismo , Obesidade/metabolismo , Fatores de Tempo , Triglicerídeos/sangue , Glicemia/análise , Peso Corporal/fisiologia , Esquistossomose mansoni/fisiopatologia , Distribuição Aleatória , Colesterol/sangue , Actinas/análise , Interleucina-6/análise , Fator de Necrose Tumoral alfa/análise , Estresse Oxidativo/fisiologia , Rim/fisiopatologia , Camundongos Endogâmicos BALB C , Obesidade/fisiopatologia
14.
Virology ; 513: 85-90, 2018 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-29035789

RESUMO

The aim of the present research is to propose a new method based on localized surface plasmon resonance (LSPR) for fast dengue virus detection. A pool with four dengue serotypes (DENV-1, -2, -3, -4) was detected through antigen-antibody binding using gold nanoparticles (AuNPs) as signaling antibody carriers. Such result was confirmed through surface plasmon resonance (SPR), transmission electron microcopy (TEM), and dynamic light scattering (DLS) techniques. The limit of detection was calculated for TCID50 107 demonstrating a linear correlation between viral concentration and number of cells with an r2 value of > 0.993. The assay presented good sensibility and reproducibility of results and the negative controls were not mistakenly detected. This design requires no pretreatment or high trained person. In the future, it can be used in commercial antibody detection kits.


Assuntos
Anticorpos Antivirais/metabolismo , Técnicas Biossensoriais/métodos , Vírus da Dengue/isolamento & purificação , Dengue/diagnóstico , Testes Diagnósticos de Rotina/métodos , Nanopartículas Metálicas , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Ressonância de Plasmônio de Superfície
15.
Biol Res Nurs ; 18(2): 181-92, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26111834

RESUMO

The healing process is complex in diabetic wounds, and the healing mechanism of burn wounds is different from that of incisional or excisional wounds. Data from our previous study indicated that topical insulin cream reduced wound closure time in diabetic rats. Our aim was to investigate the effect of topical insulin cream on wound healing following second-degree burns in control and diabetic rats. Rats were divided into four groups: control (nondiabetic) rats treated with placebo (CP), control (nondiabetic) rats treated with topical insulin cream (CI), diabetic rats treated with placebo (DP), and diabetic rats treated with topical insulin cream (DI). The wounds were assessed at 4 time points (1, 7, 14, and 26 days) post-wounding for morphometric analysis of wound sections stained with hematoxylin/eosin, α-smooth muscle actin, and Picrosirius red to evaluate general aspects of the wound, inflammatory infiltrate, blood vessels, and Types I and III collagen fibers. Histological analysis showed that topical insulin cream increased the inflammatory cell infiltrate in the DI group (at 7 and 14 days postburn, p < .05) and blood vessels (at 14 days postburn, p < .05) to levels similar to those of groups CP and CI. Wounds treated with topical insulin cream (CI and DI groups) showed significantly stronger staining for fibrillar collagen than wounds of the DP group. The use of topical insulin may reduce the duration of the inflammatory phase; improve wound reepithelialization, tissue granulation, and wound contraction; and increase collagen deposition in second-degree burns in healthy and diabetic animals.


Assuntos
Queimaduras/tratamento farmacológico , Diabetes Mellitus Experimental/fisiopatologia , Tecido de Granulação/efeitos dos fármacos , Insulina/administração & dosagem , Creme para a Pele/administração & dosagem , Cicatrização/efeitos dos fármacos , Administração Tópica , Animais , Masculino , Ratos , Ratos Wistar
16.
Mol Psychiatry ; 21(8): 1125-9, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26416544

RESUMO

The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. In a field study performed in a highly inbred area of Northeastern Brazil, we identified and investigated a large consanguineous family with nine adult members affected by severe ID associated with disruptive behavior. The Genome-Wide Human SNP Array 6.0 microarray was used to determine regions of homozygosity by descent from three affected and one normal family member. Whole-exome sequencing (WES) was performed in one affected patient using the Nextera Rapid-Capture Exome kit and Illumina HiSeq2500 system to identify the causative mutation. Potentially deleterious variants detected in regions of homozygosity by descent and not present in either 59 723 unrelated individuals from the Exome Aggregation Consortium (Browser) or 1484 Brazilians were subject to further scrutiny and segregation analysis by Sanger sequencing. Homozygosity-by-descent analysis disclosed a 20.7-Mb candidate region at 8q12.3-q21.2 (lod score: 3.11). WES identified a homozygous deleterious variant in inositol monophosphatase 1 (IMPA1) (NM_005536), consisting of a 5-bp duplication (c.489_493dupGGGCT; chr8: 82,583,247; GRCh37/hg19) leading to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregated with the disease in 26 genotyped family members. The IMPA1 gene product is responsible for the final step of biotransformation of inositol triphosphate and diacylglycerol, two second messengers. Despite its many physiological functions, no clinical phenotype has been assigned to this gene dysfunction to date. Additionally, IMPA1 is the main target of lithium, a drug that is at the forefront of treatment for bipolar disorder.


Assuntos
Deficiência Intelectual/genética , Monoéster Fosfórico Hidrolases/genética , Adulto , Brasil , Consanguinidade , Exoma/genética , Família , Feminino , Genoma Humano/genética , Genótipo , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Monoéster Fosfórico Hidrolases/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA/métodos
17.
Arq. gastroenterol ; Arq. gastroenterol;52(supl.1): 15-46, Oct.-Dec. 2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-775579

RESUMO

ABSTRACT In order to draw evidence-based recommendations concerning the management of autoimmune diseases of the liver, the Brazilian Society of Hepatology has sponsored a single-topic meeting in October 18th, 2014 at São Paulo. An organizing committee comprised of seven investigators was previously elected by the Governing Board to organize the scientific agenda as well as to select twenty panelists to make a systematic review of the literature and to present topics related to the diagnosis and treatment of autoimmune hepatitis, primary sclerosing cholangitis, primary biliary cirrhosis and their overlap syndromes. After the meeting, all panelists gathered together for the discussion of the topics and the elaboration of those recommendations. The text was subsequently submitted for suggestions and approval of all members of the Brazilian Society of Hepatology through its homepage. The present paper is the final version of the reviewed manuscript organized in topics, followed by the recommendations of the Brazilian Society of Hepatology.


RESUMO Para definir as recomendações baseadas em evidências científicas sobre o diagnóstico e tratamento das doenças autoimnus do fígado, a Sociedade Brasileira de Hepatologia organizou em Outubro de 2014, encontro monotemático em São Paulo. Um Comitê organizador de sete investigadores foi selecionado pela Diretoria da Sociedade para organizar a agenda científica, assim como para selecionar vinte debatedores para fazer uma revisão sistemática e apresentar tópicos relacionados à hepatite autoimune, colangite esclerosante primária, cirrose biliar primária e suas síndromes de superposição (overlap). O texto inicial do submetidoo a apreciação e aprovação da Sociedade Brasileira de Hepatologia através de consulta a todos associados através da home page da Sociedade, O trabalho apresentado representa a versão final do trabalho original, devidamente revisado e organizado em tópicos, segundo as recomendações da Sociedade Brasileira de Hepatologia.


Assuntos
Humanos , Colangite Esclerosante/diagnóstico , Colangite Esclerosante/terapia , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/terapia , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/terapia , Brasil , Sociedades Médicas , Síndrome
18.
Genet Mol Res ; 14(4): 12479-88, 2015 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-26505398

RESUMO

Brazil has a great diversity of Capsicum peppers that can be used in breeding programs. The objective of this study was to evaluate genetic variation in traits related to the physiological quality of seeds of Capsicum annuum L. in a segregating F2 population and its parents. A total of 250 seeds produced by selfing in the F1 generation resulting from crosses between UFPB 77.3 and UFPB 76 were used, with 100 seeds of both parents used as additional controls, totaling 252 genotypes. The seeds were germinated in gerboxes containing substrate blotting paper moistened with distilled water. Germination and the following vigor tests were evaluated: first count, germination velocity index, and root and shoot lengths. Data were subjected to analysis of variance, and means were compared by Scott and Knott's method at 1% probability. Tocher's clustering based on Mahalanobis distance and canonical variable analysis with graphic dispersion of genotypes were performed, and genetic parameters were estimated. All variables were found to be significant by the F test (P ≤ 0.01) and showed high heritability and a CVg/CVe ratio higher than 1.0, indicating genetic differences among genotypes. Parents (genotypes 1 and 2) formed distinct groups in all clustering methods. Genotypes 3, 104, 153, and 232 were found to be the most divergent according to Tocher's clustering method, and this was mainly due to early germination, which was observed on day 14, and would therefore be selected. Understanding the phenotypic variability among these 252 genotypes will serve as a basis for continuing the breeding program within this family.


Assuntos
Capsicum/genética , Brasil , Análise por Conglomerados , Estudos de Associação Genética , Deriva Genética , Variação Genética , Genética Populacional , Melhoramento Vegetal , Sementes/genética
19.
Arq Gastroenterol ; 52 Suppl 1: 15-46, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26959804

RESUMO

In order to draw evidence-based recommendations concerning the management of autoimmune diseases of the liver, the Brazilian Society of Hepatology has sponsored a single-topic meeting in October 18th, 2014 at São Paulo. An organizing committee comprised of seven investigators was previously elected by the Governing Board to organize the scientific agenda as well as to select twenty panelists to make a systematic review of the literature and to present topics related to the diagnosis and treatment of autoimmune hepatitis, primary sclerosing cholangitis, primary biliary cirrhosis and their overlap syndromes. After the meeting, all panelists gathered together for the discussion of the topics and the elaboration of those recommendations. The text was subsequently submitted for suggestions and approval of all members of the Brazilian Society of Hepatology through its homepage. The present paper is the final version of the reviewed manuscript organized in topics, followed by the recommendations of the Brazilian Society of Hepatology.


Assuntos
Colangite Esclerosante/diagnóstico , Colangite Esclerosante/terapia , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/terapia , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/terapia , Brasil , Humanos , Sociedades Médicas , Síndrome
20.
Rev. bras. reprod. anim ; 38(4): 237-241, Out-Dez. 2014. tab
Artigo em Português | VETINDEX | ID: biblio-1492132

RESUMO

O objetivo deste trabalho retrospectivo foi analisar o efeito do local de inovulação e do tamanho docorpo lúteo sobre a taxa de prenhez em novilhas receptoras de embriões produzidos in vitro (PIV). Analisaram-se524 transferências de embriões PIV, sendo 371 oriundas de embriões frescos e 153 de embriões vitrificados emum programa de transferência em tempo fixo (TETF). A taxa de prenhez nas transferências em tempo fixo comembriões bovinos frescos foi maior do que com embriões vitrificados (P 0,05).


The present study aimed to analyze the spot of inovulation and the size of the corpus lutheum effects inthe pregnancy rate of heifers receiving in vitro produced embryos. The transfers of 524 crossbred heifers wereevaluated in a fixed time transfer embryo program. The transfers 371 derived from fresh embryos and 153 ofvitrified ones. The pregnancy rate were superior for fresh than vitrified embryo group (P 0,5)on neither fresh nor vitrified embryos.


Assuntos
Feminino , Animais , Bovinos , Bovinos/embriologia , Corpo Lúteo/anatomia & histologia , Prenhez , Transferência Embrionária/veterinária
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