ABSTRACT
CONTEXT: The genetic bases of osteoporosis (OP), a disorder with high heritability, are poorly understood at an individual level. Cases of idiopathic or familial OP have long puzzled clinicians as to whether an actionable genetic cause could be identified. OBJECTIVE: We performed a genetic analysis of 28 cases of idiopathic, severe, or familial osteoporosis using targeted massively parallel sequencing. DESIGN: Targeted sequencing of 128 candidate genes was performed using Illumina NextSeq. Variants of interest were confirmed by Sanger sequencing or SNP array. PATIENTS AND SETTING: Thirty-seven patients in an academic tertiary hospital participated (54% male; median age, 44 years; 86% with fractures), corresponding to 28 sporadic or familial cases. MAIN OUTCOME MEASURE: The identification of rare stop-gain, indel, splice site, copy-number, or nonsynonymous variants altering protein function. RESULTS: Altogether, we identified 28 variants of interest, but only 3 were classified as pathogenic or likely pathogenic variants: COL1A2 p.(Arg708Gln), WNT1 p.(Gly169Asp), and IDUA p.(His82Gln). An association of variants in different genes was found in 21% of cases, including a young woman with severe OP bearing WNT1, PLS3, and NOTCH2 variants. Among genes of uncertain significance analyzed, a potential additional line of evidence has arisen for GWAS candidates GPR68 and NBR1, warranting further studies. CONCLUSIONS: While we hope that continuing efforts to identify genetic predisposition to OP will lead to improved and personalized care in the future, the likelihood of identifying actionable pathogenic variants in intriguing cases of idiopathic or familial osteoporosis is seemingly low.
ABSTRACT
Avaliar os fatores de risco cardiovascular (RCV) determinantes dosíndices de função arterial obtidos pela segunda derivada da fotopletismografia digital (SDPTG) em uma população de funcionários de uma instituição de ensino privado da cidade de São Paulo. MÉTODOS: Foram obtidos dados antropométricos e clínicos, medidas de pressão arterial (PA) com aparelho automático Microlife em 238 ndivíduos de 23 a 72 anos (média 40,1 ± 9), 105 mulheres / 133 homens. A SDPTG foi registrada automaticamente pelo dispositivo ...
To evaluate the cardiovascular risk (CR) determinants of the arterialfunction indices obtained by the second derivative photopletysmogram (SDPTG) in a agentpopulation from a private teaching institution of São Paulo. Methods: antropometric and clinicaldata, arterial pressure (AP) by na automatic device Microlife were obtained from 238 individualsfrom 28 to 72 years (mean 40,1 ± 9), 105 women / 133 men. The SDPTG was automaticallyregistered by the Dynapulse device through its sensor placed on the 2nd finger of the right hand...
Subject(s)
Age Factors , Endothelium, Vascular , Cellular Senescence , Hypertension , Tobacco Use Disorder , Risk FactorsABSTRACT
We studied the development of Aphis gossypii Glover (Hemiptera: Aphididae) in three cultivars of the herbaceous cotton plant: CNPA Precoce 1, CNPA Precoce 2 and CNPA 7 H. Cotton plants 20-cm high, maintained individually in caged pots, were infested with 20 adult aphids. We recorded the number of aphids in each plant of the three cultivars 15, 30 and 45 days after the infestation. Significant differences were found in the mean number of aphid between the cultivar CNPA Precoce 2 and the other cultivars. No significant difference was registered between the cultivars concerning to the vertical distribution of aphids on the plant, except at 45 days after infestation, when the cultivar CNPA Precoce 2 presented higher density of aphids in the medium region in the comparison with the basal region.
Estudou-se o desenvolvimento do pulgão Aphis gossypii Glover (Hemiptera: Aphididae) em três cultivares do algodão hérbaceo, CNPA Precoce 1, CNPA Precoce 2 e CNPA 7 H. Plantas de algodão com cerca de 20 cm mantidas em vasos individuais telados foram infestadas com 20 pulgões adultos. Após 15, 30 e 45 dias, procedeu-se à contagem dos pulgões em cada planta das três cultivares. Observou-se diferença significativa do número médio total de pulgões entre a cultivar CNPA Precoce 2 e as outras cultivares testadas. Não foi registrada diferença na distribuição vertical dos pulgões na planta, exceto aos 45 dias, quando a cultivar CNPA Precoce 2 apresentou maior densidade de insetos na região mediana em relação à basal.
