Background: Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the ...dysferlin gene (DYSF).
Objective: In this work, we describe a population from a small city in Brazil carrying the c.5979dupA pathogenic variant of DYSF responsible for limb girdle muscular dystrophy type 2R and distal muscular dystrophy.
Methods: Genotyping analyses were performed by qPCR using customized probe complementary to the region with the duplication under analysis in the DYSF.
Results: A total of 104 individuals were examined. c.5979dupA was identified in 48 (46.15%) individuals. Twenty-three (22%) were homozygotes, among whom 13 (56.5%) were female. A total of 91.3% (21) of homozygous individuals had a positive family history, and seven (30.4%) reported consanguineous marriages. Twenty-five (24%) individuals were heterozygous (25.8±16 years) for the same variant, among whom 15 (60%) were female. The mean CK level was 697 IU for homozygotes, 140.5 IU for heterozygotes and 176 IU for wild-type homo-zygotes. The weakness distribution pattern showed 17.3% of individuals with a proximal pattern, 13% with a distal pattern and 69.6% with a mixed pattern. Fatigue was present in 15 homozygotes and one heterozygote.
Conclusion: The high prevalence of this variant in individuals from this small community can be explained by a possible founder effect associated with historical, geographical and cultural aspects.
The aims of this study were to describe a smartphone app aimed at healthcare professionals who work in areas endemic for visceral and tegumentary leishmaniases, and to report the user's perception of ...the app in these areas. The software, called LeishCare
, has the following features: data registration, image filter to record the evolution of skin lesions using photos, calculation of a score set to identify the risk of death from visceral leishmaniasis, and guides to the diseases. LeishCare
was made available to healthcare professionals in endemic municipalities in Brazil, and the perception of potential users was evaluated at baseline and after 6 and 12 months. In the first meeting, 96 (94.1%) of the 102 professionals who knew the app reported positive expectations for its use. The installation of LeishCare
on the individual device and the evaluation of user perception were completed at 6 months with 16 users and at 12 months with 20 users. More than 90% of the professionals evaluated in both assessments found the information of the app useful. The features related to the calculation of visceral leishmaniasis severity score, and the guides to leishmaniases were the most frequently accessed. Users reported competence gain attributed to the app for all items evaluated. In conclusion, LeishCare
was found to be a promising tool to help healthcare professionals in endemic areas with leishmaniasis management.
The use of plant resistance acts by intervening in the herbivore-host relationship, through morphological, physical or chemical factors of the plant. This study evaluated the oviposition and foliar ...consumption of Chrysodeixis includens (Walker 1858) in soybean genotypes, in free- and no-choice tests, correlating them with the factors, density and size of trichomes. The experiments were carried out in laboratory (25 ± 2 °C; RH= 70 ± 10%; photoperiod 14h) using five cultivars (BRS 391, BRS 6203 RR, BMX Valente RR, Tec Irga 6070 RR, BMX Icone Ipro) and two isolines (PELBR 10-6000 and PELBR 10-6049). The trichomes reported were filiform tectors and claviform multicellular glandular. The density of glandular trichomes, in stages V2 and V5, was higher on BRS 6203 RR and BRS 391, respectively. The higher density of glandular trichomes was observed in V5 and a higher density of tector trichomes in V2. The lowest densities and the smallest sizes of trichomes in V2 and V5 stages was observed on PELBR 10-6049. The size of tector trichomes and the number of eggs did not differ among the cultivars. Foliar consumption was lower for on BMX Icone Ipro and Tec Irga 6070 RR. Trichome density influences the consumption and oviposition behavior of C. includens.
RESUMO: O uso da resistência de plantas atua intervindo na relação herbívoro-hospedeiro, através de fatores morfológicos, físicos ou químicos da planta. O objetivo deste trabalho foi avaliar a oviposição e o consumo foliar de Chrysodeixis includens (Walker 1858) em genótipos de soja, através de testes com e sem escolha, correlacionando-os com os fatores, densidade e tamanho de tricomas. Os experimentos foram realizados em laboratório (25 ± 2 °C; UR= 70 ± 10%; fotoperíodo 14h) utilizando cinco cultivares (BRS 391, BRS 6203 RR, BMX Valente RR, Tec Irga 6070 RR, BMX Icone Ipro) e duas linhagens (PELBR 10-6000 e PELBR 10-6049). Os tricomas encontrados foram tectores filiformes e glandulares multicelulares claviformes. A densidade de tricomas glandulares nos estágios V2 e V5, foi maior em BRS 6203 RR e BRS 391, respectivamente. A maior densidade de tricomas glandulares foi observada em V5 e a maior densidade de tricomas tectores em V2. As menores densidades e os menores tamanhos de tricomas nos estágios V2 e V5 foram observados em PELBR 10-6049. O tamanho de tricomas tectores e o número de ovos não diferiram entre as cultivares. O consumo foliar foi menor para BMX Icone Ipro e Tec Irga 6070 RR. A densidade de tricomas influência o comportamento de consumo e oviposição de C. includens.
Colossoma macropomum, or tambaqui, is the largest native Characiform species found in the Amazon and Orinoco river basins, yet few resources for genetic studies and the genetic improvement of ...tambaqui exist. In this study, we identified a large number of single-nucleotide polymorphisms (SNPs) for tambaqui and constructed a high-resolution genetic linkage map from a full-sib family of 124 individuals and their parents using the genotyping by sequencing method. In all, 68,584 SNPs were initially identified using minimum minor allele frequency (MAF) of 5%. Filtering parameters were used to select high-quality markers for linkage analysis. We selected 7,734 SNPs for linkage mapping, resulting in 27 linkage groups with a minimum logarithm of odds (LOD) of 8 and maximum recombination fraction of 0.35. The final genetic map contains 7,192 successfully mapped markers that span a total of 2,811 cM, with an average marker interval of 0.39 cM. Comparative genomic analysis between tambaqui and zebrafish revealed variable levels of genomic conservation across the 27 linkage groups which allowed for functional SNP annotations. The large-scale SNP discovery obtained here, allowed us to build a high-density linkage map in tambaqui, which will be useful to enhance genetic studies that can be applied in breeding programs.
The growing demand for sugar-free confectionery products with fruit added motivated the study of a dietary model system (chewy candy) to be the basis for the incorporation of a tropical Brazilian ...fruit (açai – Euterpe oleracea Mart.) with outstanding sensorial properties. The effect of the polyols maltitol, isomalt, xylitol and erythritol was evaluated on the water activity and instrumental texture of the dietary model systems through a simplex lattice mixture design. The trial with the best performance was chosen to incorporate a spray-dried açai powder and was compared to a reference açai chewy candy containing sucrose by sensory analysis. The sucrose replacement by isomalt and erythritol resulted in a soft texture (hardness of 4.08 N), proper water activity (0.43) and stable dietary system concerning the maintenance of shape. The addition of spray-dried açai powder (10.4 g/100 g, in dry basis) at this system enabled to explore the flavor and color potential of the fruit and to eliminate the addition of vegetable fat generally used at the conventional formulation. The sensory tests indicated that the no-added sucrose açai chewy candy was acceptable for all the evaluated attributes and approved regarding purchase intent, presenting better results than the containing-sucrose açai chewy candy.
•Maltitol, isomalt, xylitol and erythritol were used to produce chewy candies (CC).•CC based on isomalt and erythritol showed proper texture, aw and shape stability.•Spray-dried açai powder was applied to no-added sucrose and containing-sucrose CC.•Açai provided adequate fat content, natural color/flavor, good acceptability to CC.
Leishmaniasis is a parasitic disease that affects people all over the world. The number of cases of leishmaniasis is increasing and the drugs used for its treatment are toxic and not always ...effective. The recognition of the global nature of this disease and its direct or indirect effects on health economics and actions focuses attention on the development of new therapeutic options. In Brazil, this parasitic disease is endemic in many regions. The plants used by the population against leishmaniasis can be good starting points in the search of new lead compounds for antileishmanial drugs.
The aim of the present study was to investigate the antileishmanial activity of extracts from leaves and stems of seven Brazilian plant species used by the population to treat leishmaniasis, and symptoms that might be related to Leishmania infections.
Twenty two extracts from seven plants belonging to five different botanical families were prepared by different methods and evaluated for their effect on the viability of promastigote forms of Leishmania infantum (MHOM/BR/1967/BH46) using the resazurin-based colorimetric assay. The extracts were considered active when they inhibited the growth of promastigotes in a percentage greater than or equal to 50% at 100 and 200 µg/mL. The active samples were further investigated to determine IC50, CC50 and SI values against promastigote forms of L. infantum. The active and non-cytotoxic extracts (SI> 10) were evaluated against amastigote forms of L. infantum. In addition, the active extracts against the amastigote forms were analyzed by TLC and HPLC, while the EtOAc extract of stems from Aspidosperma tomentosum was also evaluated by GC/MS.
Among the twenty two extracts evaluated, two were considered active against L. infantum. The EtOH extract of leaves from Dyospiros hispida (IC50 55.48 ± 2.77 µg/mL and IC50 80.63 ± 13.17 µg/mL, respectively) and the EtOAc extract of stems from Aspidosperma tomentosum (IC50 9.70 ± 2.82 µg/mL and IC50 15.88 ± 1.53 µg/mL, respectively) inhibited significantly the growth of promastigote and amastigote forms of L. infantum. Some extracts, although active in the initial screening, were considered toxic since the SI was lower than 10. In TLC and HPLC analysis the leaf extract of Dyospiros hispida showed the presence of anthraquinones, terpenes and saponins, and in the EtOAc extract of stems from Aspidosperma tomentosum alkaloids and flavonoids were detected. In addition, in the latter extract the indole alkaloids uleine and dasycarpidone could be identified by GC/MS.
The ethnopharmacological data of Aspidosperma tomentosum and Dyospiros hispida in part support the results found in the biological models used. Extracts of Aspidosperma tomentosum and Dyospiros hispida presented promising results against L. infantum.
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Information and communication technologies are part of our day-to-day life in the execution of all activities, including health care. However, it is not known how much the use of technologies can ...contribute to the adoption of healthy lifestyle habits. Thus, the objective of this study was to analyze whether the use of information and communication technologies contributes to weight control among adults when compared to the traditional approach method. The search was performed in November 2021 in eight electronic databases in addition to gray literature bases. The quality of the studies was assessed using the Cochrane risk of bias tool. The standardized mean difference was used for the meta-analytic measurement using the random effects model using the Dersimonian-Laid method in the Stata statistical package version 17. The body mass index of the intervention group decreased by an average of 0.56 (95% CI: -0.83; -0.30) when compared to the control group. When comparing the before and after groups, the intervention group also had a greater reduction in BMI (summarized mean: -0.83; 95% CI: -1.40; -0.26). Information and communication technologies contribute to the reduction of the body mass index in the adult population when compared to the traditional model of monitoring. Prospero registration: number 42020186340.
The present study aimed to characterize the importance of the Anaplasma marginale, Babesia bovis and Babesia bigemina in the genesis of cattle tick fever (CTF) among dairy calves in the northwest of ...Minas Gerais, Brazil. Blood samples from 300 calves were collected, followed by DNA extraction and nested PCR using oligonucleotide primers to amplify fragments of the semi-nested for the msp5 gene (A. marginale), sbp-4 (B. bovis) and rap-1a (B. bigemina) Among the examined calves, the prevalence of A. marginale was 55.6% (n=167/300), B. bovis was 4.0% (n=12/300) and B. bigemina was 15.3% (n=46/300), by PCR techniques. Parasitic forms of A. marginale and B. bigemina were found in 36,3% and 2,6% of the blood smears while B. bovis was not detected. There was a statistical difference between the positivity of infected animals in the age groups 1 (10-70 days) and (>70-300 days) for A. marginale and B. bigemina. A total of 15 calves with the classic symptoms of disease were examined, and the samples obtained were confirmed as a simple infection by A. marginale through semi-nested PCR. These results confirm bovine anaplasmosis as the primary cause of CTF among the calves of dairy cattle within the studied area.
In a recent study, our research group demonstrated that the essential oil of Ocotea odorifera (EOOO) and its major compound safrole potentiated the action fluoroquinolones, modulating bacterial ...resistance possibly due to direct inhibition of efflux pumps. Thus, in the present study, we investigated whether these treatments could enhance the activity of gentamicin and erythromycin against multidrug-resistant (MDR) bacteria. The EOOO was extracted by hydrodistillation, and the phytochemical analysis was performed by gas chromatography coupled to mass spectrometry (GC–MS). The antibiotic-enhancing effect of the EOOO and safrole against MDR strains of Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa was analyzed by the broth microdilution method. The chemical analysis confirmed the presence of safrole as a major component among the 16 compounds identified in the EOOO. Both the essential oil and the isolated compound showed clinically relevant antibacterial activities against S. aureus. Regarding the modulation of antibiotic resistance, the EOOO was found to enhance the activity of erythromycin against the strains of P. aeruginosa and S. aureus, as well as improving the action of gentamicin against S. aureus. On the other hand, safrole potentiated the activity of gentamicin against the S. aureus strain alone. It is concluded, therefore, that the EOOO and safrole can enhance the activity of macrolides and aminoglycosides, and as such are useful in the development of therapeutic tools to combat bacterial resistance against these classes of antibiotics.
To prepare an instrument to evaluate health literacy with regard to adherence to drug treatment among diabetics, identify the validity of its content, and estimate its reliability.
Pilot study, with ...the following stages of instrument construction: literature review, content validation, reliability estimation (internal consistency/Cronbach's alpha and reproducibility/Kappa).
The validity of content was completed and presented alpha=0.77 and Kappa values ranged from 0.31 to 1.00.
The instrument was approved regarding content validity, presented acceptable internal consistency and reproducibility. However, when applied, measurement errors it can produce must be considered.
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