A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients

Abstract GlcNAc-1-phosphotransferase is a hexameric complex formed by subunits α, β, and γ, where the first two are encoded by the GNPTAB gene and the third by the GNPTG gene. Pathogenic variants identified in the GNPTAB gene cause the diseases Mucolipidosis II and III alpha/beta, which are severe and characterized by an overflow of lysosomal hydrolases into the extracellular environment, and their absence in lysosomal compartments causes an accumulation of non-degraded macromolecules. Methodology: a retrospective study that included 32 unrelated Brazilian patients with a clinical and genetic diagnosis of Mucolipidosis II/III alpha/beta. The regional frequency of the altered alleles was determined. Results: The patients were from all regions of Brazil. The most prevalent variants were c.3503_3504del, associated with the severe form of the disease, and c.1208T>C, associated with the milder form. Variant c.3503_3504del is the most frequently found in the Midwest, Northeast, and Southeast regions of Brazil. In the South, 42.8% of the alleles present the c.1196C>T variant. Conclusions: From the perspective of all patients diagnosed with Mucolipidosis II/III in Brazil, it is possible to conclude that different regions present allelic frequencies of specific pathogenic variants, which can be explained by the occurrence of a founding effect or high inbreeding rates.

Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.

Produção e qualidade em gérbera de vaso cultivada com cloreto e silicato de potássio / Production and quality of potted gerbera grown with chloride and potassium silicate

A gérbera é uma espécie ornamental perene, herbácea e pertencente à família Asteraceae. O seu cultivo, assim como todo o mercado de flores e plantas ornamentais, está hoje em plena fase de expansão. O objetivo deste trabalho foi avaliar características de crescimento e qualidade em gérbera de vaso, cultivar Red, em função de fontes e doses de potássio. O experimento foi conduzido em casa de vegetação, na UNESP/Botucatu. O delineamento experimental adotado foi em blocos casualizados, empregando o esquema fatorial 2x5, sendo duas fontes de potássio (silicato e cloreto) e cinco doses (0, 50, 100, 150 e 200 mg . L-1 4 repetições e 5 plantas por parcela. Semanalmente, durante todo o período experimental, foram feitas avaliações do número de folhas (NF) e do diâmetro da parte aérea da planta (DP). Ao final do ciclo vegetativo e do ciclo reprodutivo, aos 40 e 60 dias após a aclimatização (DAA), respectivamente, foram determinadas a área foliar (AF), a massa (seca das folhas (MSF), a massa seca da inflorescência (MSI) e a massa seca total (MST). No ponto de comercialização que é caracterizado pela abertura dos estames, quando a inflorescência apresentou no mínimo dois círculos destes abertos, com liberação de pólen, foram determinados o número de inflorescência (NI), o diâmetro de inflorescência (DI), a altura de haste (AH), o diâmetro de haste (DH) e a altura de planta (AP). Independentemente das doses, o silicato de potássio promoveu maior diâmetro de planta, maior área foliar, maior MSF, MST e maior altura de haste, características essas que favorecem a venda dos vasos de gérbera.

The Gerbera is an ornamental perennial herb, belonging to the Asteraceae family. Its cultivation, as well as the entire market for flowers and ornamental plants, is now in full expansion phase. The objective of this study was to evaluate the growth and quality Potted gerbera cultivar Red, according to sources and doses of potassium. The experiment was conducted in a greenhouse at UNESP / Botucatu. The experimental design was randomized blocks, using a 2x5 factorial arrangement, with two sources (potassium silicate and chloride) and five doses (0, 50, 100, 150 and 200 mg. L-1) 4 replications and 5 plants per plot . Weekly throughout the experimental period, assessments were made of the number of leaves (NL) and the diameter of the plant canopy (DP). at the end of the season and the reproductive cycle, at 42 and 60 days after acclimatization (DAA), respectively, were determined by leaf area (LA), mass (dry leaves (MSF), the dry mass of inflorescence (MSI) and total dry matter (TDM). at the point of marketing is that of open stamens, when the inflorescence had at least two rounds of open, releasing pollen, we determined the number of inflorescences (NI), the diameter of inflorescence (DI), the stem height (AH), the shank diameter (DH ) and plant height (PH). Regardless of the doses, potassium silicate promoted greater diameter, leaf area, greater MSF, MST and increased stem height, characteristics that favor the sale of potted gerbera.