Introduction: Arterial hypertension is a complex, multifactorial disease, controlled by genetic and environmental factors.Objective: Evaluate the genetic susceptibility for developing arterial hypertension and its association with the traditional risk factors in the outbreak of this pathology.Material and Methods: Case-control study with 1712 individuals, mean age of 51.0 ± 7.9 years (860 hypertensive patients and 852 controls). Biochemical and traditional risk factors, and genetic variants were evaluated: ACE I/D rs4340, ACE A2350G rs4343, AGT T174M rs4762, AGT M235T rs699 AGTR1 A1166C rs5186, CYP11B2 -344 C/T rs1799998, ADRB1 R389G rs1801253, ADRB2 R16G rs1042713, ADD1 G460W rs4961, SCNN1G G173A rs5718, GNB3 C825T rs5443, ATP2B1 A/G rs2681472, CYP17A1 T/C rs11191548, SLC4A2 C/T rs2303934. The risk of each gene for hypertension was estimated by the dominant, recessive, co-dominant and multiplicative models. By logistic regression, variables associated with hypertension were evaluated. ROC curves were first performed with traditional risk factors and then adding the genetic variants associated with hypertension. Data were analyzed by SPSS for Windows 19.0 and MedCalc v. 13.3.3.0.Results: The genetic variants ADD1 G460W, GNB3 C825T, ACE I/D, ACE A2350G were associated with hypertension. ROC curve with traditional risk factors and these variants showed an increase in the predictive capacity of hypertension (p = 0.018).Discussion: According to the results of our study, the genetic variants found to be associated with hypertension were: ACE I/D rs4340, ACE A2350G rs4343, ADD1 G460W rs4961 and GNB3 C825T rs5443. The first two variants are associated with hypertension by interfering with the renin-angiotensin-aldosterone system, which plays an important role in regulating blood pressure. It should be noted that genes encoding the components of renin-angiotensin-aldosterone system are natural candidates for the development and progression of hypertension. In our population alpha-aducin polymorphism (ADD1 G460W rs4961) was also associated with hypertension. In a Portuguese population, known to have high salt intake, it makes sense that this polymorphism which is relevant in salt and water management may consequently be relevant in the onset of hypertension. The genetic variant GNB3 C825T rs5443 that affects intracellular signalling was also found to be a strong risk candidate for hypertension. Initially, with the elaboration of the ROC curve and calculation of the AUC using only with traditional risk factors and later by adding the variants ADD1 G460W, GNB3 C825T, ACE I/D and ACE A2350G to the traditional risk factors, we verified that genetic polymorphisms increased the predictive risk of hypertension, when compared to the risk given only by traditional risk factors, with statistical significance (p = 0.018). This suggests that hypertension is a multifactorial disease that results from the interaction of environmental, genetic and lifestyle factors that interact with each other and lead to the advent of this important pathology.Conclusion: In our study, the hypertension-associated polymorphisms are linked to the renin-angiotensin-aldosterone axis (ACE I/D, ACE A2350G), as well as to salt and water management (ADD1 G460W, GNB3 C825T). Through a multivariate analysis, it was concluded that these two last genetic variants together with four of the traditional risk factors (smoking, alcohol consumption, obesity and diabetes) are associated in a significant and independent way with essential hypertension. In a predictive model of hypertension, the introduction of genetic variants slightly increases the predictive value of the model.
INTRODUÇÃO: No acidente vascular cerebral isquémico agudo, a terapia endovascular indicada na oclusão de grande vaso cerebral suscita preocupações quanto à exposição adicional a radiocontraste. Procuramos caracterizar a evolução renal visando identificar nefropatia induzida por contraste e estudar o impacto da doença renal preexistente.MATERIAL E MÉTODOS: Estudámos retrospetivamente admissões na Unidade de Doenças Cerebrovasculares do Hospital Central do Funchal entre março 2017 e fevereiro 2020 com necessidade de terapia endovascular neste contexto. Obtivemos características demográficas e semiológicas. Registámos creatinina plasmática em três momentos. Apurámos como desfechos: nefropatia induzida por contraste, índices neurofuncionais e óbito intra-hospitalar. Comparamos aqueles com taxa de filtração glomerular estimada (TFGe) < 60 mL/min/1,73 m2 com os restantes.RESULTADOS: Na amostra de 62 casos (32 homens [51,6%], idade 69,6 ± 10,9 [média ± desvio-padrão] anos, National Institutes of Health Stroke Scale [NIHSS] à admissão 15,0 ± 5,9), descrevemos a creatinina plasmática: admissão 0,98 ± 0,23; 48 horas 0,86 ± 0,21; 5º-7º dia 0,87 ± 0,22 mg/dL. Nenhum cumpriu critérios de nefropatia induzida por contraste. Aqueles com TFGe < 60 mL/min/1,73 m2 (16 casos, 25,8%) não diferiram na evolução nefrológica (variação da creatinina plasmática às 48 horas: -0,17 ± 0,13 versus -0,11 ± 0,11 p=0,067) ou neurológica (modified Rankin Scale ? 2: 31,3% versus 23,9% p=0,563; ? NIHSS: -0,94 ± 9,6 versus -2,9 ± 9,0 p=0,479; óbito: 18,8% versus 19,6% p=0,943).CONCLUSÃO: Nesta amostra, não se detetaram casos de nefropatia induzida por contraste. Aqueles com TFGe < 60 mL/min/1,73 m2 pré-procedimento, também não demonstraram pior desfecho.
Osteolytic lesions of skull cap CASE REPORTWe report the case of a Caucasian 71-year-old female with schizophrenia, who presented to the emergency room with traumatic brain injury after falling. At the beginning, general surgery assessed the patient, and a skull X-ray was performed. It revealed multiple lytic injuries in the skull cap (figure 1) and with this finding, she was admitted in the Internal Medicine ward. On physical examination she presented skin and mucous paleness, as well as a 5x3 cm nodule on the upper exterior quadrant of the right breast, irregular, with poorly defined edges and a palpable ipsilateral axillary adenopathy. Under these findings, a thorax-abdomen-pelvic computerized tomography was requested. It revealed diffuse involvement of the whole skeleton and confirmed the presence of a nodule. Under breast tumour with bone metastasis suspicion, patient was conducted for a breast eco-guided biopsy, confirming the presence of invasive carcinoma "no special type", starting hormonotherapy with letrozole. Bone is one of the most common metastasis areas. 1 Skeleton osteolytic injuries often are evidenced in multiple myeloma and other solid tumours such as breast and lung. 2 Differential diagnosis of lytic bone lesions can include primary malign bone injuries, bone metastasis or even benign bones injuries. 1 Considering this, evaluation of a patient with these lesions becomes a challenge. Its clinical case intends to highlight the importance of physical examination, the key in the diagnostic process. Most bone metastasis are asymptomatic; however, it becomes a sign of advanced disease. 3 Palabras clave: lesiones osteolíticas, cáncer de mama, metástasis óseas
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