Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family

Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is caused by mutations in the riboflavin transporter genes SLC52A2 (RFVT2) or SLC52A3 (RFVT3).2,3 It is a rare syndrome with approximately 70 cases reported worldwide, with molecular diagnoses of RFVT2 or RFVT3. 1,4 We have previously described the first Brazilian family with a clinical diagnosis of BVVL.5 In this report, we extend the clinical spectrum associated with this family and describe a new mutation related to the metabolism of riboflavin

Ultrastructure of endogenous stages of Eimeria ninakohlyakimovae Yakimoff & Rastegaieff, 1930 Emend. Levine, 1961 in experimentally infected goat.

Abstract: The ultrastructure of endogenous stages of Eimeria ninakohlyakimovae was observed in epithelial cells of cecum and colon crypts from a goat experimentally infected with 2.0 x 10(5) oocysts/kg. The secondary meronts developed above the nucleus of the host cell. The nucleus first divides and merozoites then form on the surface of multinucleated meronts. Free merozoites in the parasitophorous vacuole present a conoid, double membrane, one pair of rhoptries, micronemes, micropore, anterior and posterior polar ring, a nucleus with a nucleolus and peripheral chromatin. The microgamonts are located below the nucleus of the host cell and contain several nuclei at the periphery of the parasite. The microgametes consist of a body, a nucleus, three flagella and mitochondria. The macrogamonts develop below the nucleus of the host cell and have a large nucleus with a prominent nucleolus. The macrogametes contain a nucleus, wall-forming bodies of type I and type II. The young oocysts present a wall containing two layers and a sporont

Biostimulants in the development of tomato and collard greens seedlings

The success of crop yields begins with the use of quality seedlings. Crops from vigorous plants respond better to phytosanitary treatments and management techniques, resulting in economic returns and better use of inputs. The objective of this study was to evaluate NPK fertilizer rates and rates of an NPK + auxin biostimulant on the effects over agronomic features of Collard Greens and salad tomato seedlings. The research consisted of two experiments in randomized block, with four replications each. Both experiments were in factorial scheme 2 x 4, consisting of the combination of two nutrient sources (NPK fertilizer 9-45-11 and biostimulant composed of NPK 9-45-11 + 400 mg kg -1 of auxin IAA), and four rates, being then 50; 100; 150 and 200% of the recommended rate of biostimulant for tomato and 50; 75; 100 and 125% of the recommended rate for Collard Greens. The biostimulant favored the development of tomato seedlings, since it provides greater root dry mass accumulation and didn’t promote seedling shedding, as it occurred in the application of NPK fertilizers. On the other hand, the Collard Greens seedlings didn’t distinguish by the presence of auxin in the biostimulant, developing greater seedlings heights with NPK application. Concentrations of 50-200% of the recommended biostimulant fertilizer didn’t interfere on root length, diameter and root dry mass of Collard Greens

Susceptibility of monospecies and dual-species biofilms of Staphylococcus aureus and Escherichia coli to essential oils

The aim of this study was to investigate the susceptibility of Staphylococcus aureus and Escherichia coli biofilms formed on the polypropylene surface. The cultures were developed for 240 h, planktonic growth was characterized by colony-forming unit (cfu)/mL and biofilms was characterized by quantifying biomass and cfu/cm2. Essential oils (EOs) of citronella and lemon were extracted by hydrodistillation and characterized by gas chromatography. Biofilm formation occured after 3 h of contact. In dual-species biofilms, there was competition; S. aureus was the number of viable cells damaged by E. coli (P < 0.05). The EOs disinfectant action was similar in biofilms monospecies, viable cells and biomass decreased significantly. Dual-species biofilms were more resistant to EOs. The action EOs on biofilm suggest promising alternatives to sanitize industrial polypropylene surfaces.The authors thank the Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES) for the first author's scholarship, the Fundacao de Amparo a Pesquisa do estado de Minas Gerais (FAPEMIG) for the financial support, the Foundation for Science and Technology and European Community fund European Regional Development Fund (FEDER), in the ambit of the Project PTDC/SAUESA/6460912006/FCOMP-01-0124-FEDER-007480

Trabecular bone score (TBS) as a new complementary approach for osteoporosis evaluation in clinical practice.

Trabecular bone score (TBS) is a recently-developed analytical tool that performs novel grey-level texture measurements on lumbar spine dual X-ray absorptiometry (DXA) images, and thereby captures information relating to trabecular microarchitecture. In order for TBS to usefully add to bone mineral density (BMD) and clinical risk factors in osteoporosis risk stratification, it must be independently associated with fracture risk, readily obtainable, and ideally, present a risk which is amenable to osteoporosis treatment. This paper summarizes a review of the scientific literature performed by a Working Group of the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis. Low TBS is consistently associated with an increase in both prevalent and incident fractures that is partly independent of both clinical risk factors and areal BMD (aBMD) at the lumbar spine and proximal femur. More recently, TBS has been shown to have predictive value for fracture independent of fracture probabilities using the FRAX® algorithm. Although TBS changes with osteoporosis treatment, the magnitude is less than that of aBMD of the spine, and it is not clear how change in TBS relates to fracture risk reduction. TBS may also have a role in the assessment of fracture risk in some causes of secondary osteoporosis (e.g., diabetes, hyperparathyroidism and glucocorticoid-induced osteoporosis). In conclusion, there is a role for TBS in fracture risk assessment in combination with both aBMD and FRAX

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review

Background Pathogenic variants in 5 genes (GCH1, TH, PTS, SPR, and QDPR), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa-responsive dystonia (DRD). Diagnosis and treatment are often delayed due to high between- and within-group variability. Objectives Comprehensively analyzed individual genotype, phenotype, treatment response, and biochemistry information. Methods 734 DRD patients and 151 asymptomatic GCH1 mutation carriers were included using an MDSGene systematic literature review and an automated classification approach to distinguish between different forms of monogenic DRDs. Results Whereas dystonia, L-Dopa responsiveness, early age at onset, and diurnal fluctuations were identified as red flags, parkinsonism without dystonia was rarely reported (11%) and combined with dystonia in only 18% of patients. While sex was equally distributed in autosomal recessive DRD, there was female predominance in autosomal dominant DYT/PARK-GCH1 patients accompanied by a lower median age at onset and more dystonia in females compared to males. Accordingly, the majority of asymptomatic heterozygous GCH1 mutation carriers (>8 years of age) were males. Multiple other subgroup-specific characteristics were identified, showing high accuracy in the automated classification approach: Seizures and microcephaly were mostly seen in DYT/PARK-PTS, autonomic symptoms appeared commonly in DYT/PARK-TH and DYT/PARK-PTS, and sleep disorders and oculogyric crises in DYT/PARK-SPR. Biochemically, homovanillic acid and 5-hydroxyindoleacetic acid in CSF were reduced in most DRDs, but neopterin and biopterin were increased only in DYT/PARK-PTS and DYT/PARK-SPR. Hyperphenylalaninemia was seen in DYT/PARK-PTS, DYT/PARK-QDPR, and rarely reported in autosomal recessive DYT/PARK-GCH1. Conclusions Our indicators will help to specify diagnosis and accelerate start of treatment. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Societ

Perfil dos produtores rurais do Rio Pardo de Minas: estudo de caso nas comunidades Monte Alegre, Vereda Funda e Água Boa (I e II).

Resumo - O estudo objetiva traçar o perfil técnico-econômico, social, ambiental e institucional dos produtores rurais de três comunidades do município de Rio Pardo de Minas (Vereda Funda; Água Boa I e II e Monte Alegre), sendo um esforço inicial na busca por compreender as necessidades, demandas e aspirações da agricultura familiar local. O levantamento é resultado de dados primários coletados por meio de visitas exploratórias e da aplicação de 92 questionários semiestruturados. Um resultado interessante foi perceber que os produtores rurais, embora com baixos níveis de produtividade, escolaridade e de capacitação técnica, têm consciência da necessidade da preservação ambiental, dos seus fatores críticos e dos gargalos estruturais que determinam o fraco nível de desenvolvimento econômico local. O estudo permitiu concluir que algumas soluções tecnológicas simples e intervenções públicas plausíveis poderiam gerar benefícios imediatos para as comunidades, tais como: melhorar os sistemas de produção e práticas de manejo; aumentar a qualidade da mão de obra por meio de capacitação e assistência técnica; direcionar mais crédito rural para investimento em cisternas, poços artesianos, sistemas de irrigação, insumos agropecuários (como máquinas e equipamentos, adubos e fertilizantes, defensivos agrícolas), dentre outros. Abstract - The study aims to trace the technical, economic, social, environmental and institutional profile of farmers in three communities of Rio Pardo de Minas (Vereda Funda, Água Boa I and II and Monte Alegre), being an initial effort in the search for understanding the needs, demands and aspirations of the local family farmers. The survey is the result of primary data collected through exploratory visits and application of 92 semi-structured questionnaires. An interesting result was to realize that farmers, albeit with low levels of productivity, education and technical training, are very aware of the environmental preservation´s need and the critical structural factors that determine the low level of local economic development. The study concluded that some simple technological solutions and plausible public interventions could bring immediate benefits to the three communities farmers, such as improving production systems and management practices; increase the quality of labor force through training and technical assistance; direct more rural credit for investment in water tanks, wells, irrigation systems, agricultural inputs (such as machinery and equipment, fertilizers, pesticides), among others