VIVER SUS: VIVÊNCIAS E EXPERIÊNCIAS DA ENFERMAGEM NA ATENÇÃO BÁSICA

Trata-se de um estudo descritivo da vivência e experiência do projeto VIVER – SUS UNESC no município de Forquilhinha, sul de Santa Catarina de 15 a 19 de julho de 2013, com o objetivo de ampliar as competências já desenvolvidas na graduação por meio de atividades de extensão universitária, aproximando os acadêmicos da realidade dos serviços da rede pública de saúde, especificamente da Enfermagem

Avaliação do conhecimento sobre preenchimento das causas básicas na declaração de óbito pelos estudantes de medicina da UNESC e médicos emergencistas de Criciúma-SC

Artigo apresentado como requisito parcial para obtenção do grau de Bacharel, no Curso de Medicina, da Universidade do Extremo Sul Catarinense- UNES

Variants in <i>KMT2A</i> in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil’s Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene, including a novel variant (c.6158+1del) and two that had been previously reported (c.173dup and c.3241C>T); reverse phenotyping concluded that all three patients presented features of Wiedemann–Steiner syndrome, such as neurodevelopmental disorders and dysmorphic facial features (n = 3), hyperactivity and anxiety (n = 2), thick eyebrows and lower-limb hypertrichosis (n = 2), congenital heart disease (n = 1), short stature (n = 1), and velopharyngeal insufficiency (n = 2). Overlapping features between 22q11.2 deletion syndrome and Wiedemann–Steiner syndrome comprised neuropsychiatric disorders and dysmorphic characteristics involving the eyes and nose region; velopharyngeal insufficiency was seen in two patients and is an unreported finding in WDSTS. Therefore, we suggest that both conditions should be included in each other’s differential diagnoses

Resumos concluídos - Bioquímica

Resumos concluídos - Bioquímic

Resumos concluídos - Bioquímica

Resumos concluídos - Bioquímic