Primary familial brain calcification (PFBC) is identified by mineralization of the basal ganglia and other brain regions in the absence of known causes. The condition is often inherited in an autosomal dominant pattern and can manifest itself clinically with neuropsychiatric symptoms such as Parkinsonism, headaches, psychosis, and mood swings. Mutations in the SLC20A2 gene account for ~40% of inherited cases, and this gene encodes an inorganic phosphate transporter (PiT-2), a transmembrane protein associated with Pi homeostasis. The p.Y386X mutation in SLC20A2 was identified in a patient who presented migraines, brain calcification, and mild but chronic hypovitaminosis D. SLC20A2 c.1158C > G single-nucleotide heterozygous mutation results in a premature stop codon and a putative truncated protein of 385 amino acids. Proband parents do not present the mutation, which is also not present in major public SNP databases, suggesting a de novo sporadic trait. This study describes for the first time a de novo SLC20A2 mutation in a PFBC patient with migraine and mild hypovitaminosis D. This data further reinforces the pathogenic role of SLC20A2 mutations as causal factors in PFBC physiopathology.

BackgroundMultiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%–90% of patients. The EXT1 is more often mutated than EXT2 gene, with a variable prevalence between populations. There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population. The aim of this survey is to characterize these to determine the genotype profile of this population.Methods DNA sequencing (Sanger Method) and MLPA analysis were performed to identify point mutations and deletions/duplications in the sample of 153 patients in 114 families.ResultsGermline variants were identified in 83% of families in which EXT2 variants were detected in 46% and EXT1 in 37% of cases. No variants were detected in 17% of them. We identified 50 different variants, 33 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in EXT1 and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2. Of all 50 variants, 31 (62%) were novel, including 20 out of 33 (60,6%) EXT1 and 11 out of 17 (64.7%) EXT2 alleles. The vast majority of variants (88%) were “loss‐of‐function” and two novel hotspots in EXT2 gene were observed in our study.ConclusionThe prevalence of variants detected in the EXT2 gene differs from other researches from Latin America, European, and Asian population. This uncommon prevalence could be related with the newly characterized variant hotspot sites detected in EXT2 gene (p.Ala409Profs*26 and p.Ser290*). A high number of novel variants were also identified indicating that Brazilian population has a unique genetic profile. Characterizing this population and establishing its genotype is essential to understand the molecular pathogenesis of this disease in Brazil.

Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1-q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval.

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As Doenças Crônicas não Transmissíveis (DCNTs) caracterizam-se como multifatoriais e causam danos a vários sistemas do organismo humano. É válido ressaltar que para as DCNTs existem vários fatores de risco que culminam para o aparecimento delas ao decorrer da vida, tais como gênero, etilismo, tabagismo, genética, raça, idade, alimentação inadequada, sedentarismo e dislipidemias. Desse modo, as literaturas mostram que os diversos tipos de DCNTs estão, geralmente, associados ao estilo de vida do indivíduo. Além da hipertensão e diabetes, fazem parte também do grupo das DCNTs as doenças respiratórias obstrutivas e neoplasias, doenças cerebrovasculares, dislipidemias e doenças cardiovasculares. No Brasil estima-se que a hipertensão arterial e o diabetes mellitus contribuem com cerca de 72% das mortes. Sendo assim, o presente trabalho teve como objetivo realizar a promoção de saúde por meio da educação em saúde voltada aos usuários da Unidade Básica de Saúde do bairro Planalto, em Redenção - PA. Diante disso, nota-se que as práticas de educação em saúde influenciam na adesão ao tratamento dos usuários, possibilitando a transmissão de informações sobre as patologias e o uso racional de medicamento, somado a isso, observa a contribuição à formação acadêmica dos estudantes de medicina, que puderam elucidar o conhecimento na prática diária. Assim, evidencia-se a importância da realização de atividades de educação em saúde à população, e que no ato de cuidar dos pacientes hipertensos e diabéticos não devemos focar nossas ações apenas nas patologias citadas, mas priorizar também a promoção, manutenção e recuperação da saúde.