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Background: Sports athletes, namely high-intensity practitioners, suffer from vascular remodeling overtime. The purpose of this study was to analyze the systolic and diastolic velocities’ variation between non-athletes and futsal athletes by means of arterial lower limb doppler ultrasound. Additionally, we intended to verify if the velocity variations occur primarily at the systolic or the diastolic level and in which arteries. Methods: Seventy-six young males (mean ± SD: 24.9 ± 2.8 years old) volunteered to participate in this cross-sectional study and were divided into two groups: a futsal athletes group (n = 38; 24 ± 2.78 years) in the central region of Portugal playing on the 2nd national league with the same level of practice (16 ± 2.4 years of practice) and a non-athletes group (n = 38: 26 ± 1.8 years) who did not practice sports regularly and were not federated in any sport. All the subjects agreed to participate in the study with the aim of assessing the arterial lower limb through doppler ultrasound (Philips HD7 echograph with linear transducer 7–12 MHz). Results: Differences between groups (p ≤ 0.05) in the systolic velocity of the left deep femoral artery (p = 0.022; d = 0.546, small) and in the right superficial femoral artery (p = 0.028; d = −0.515, small) were found. We also found differences in the diastolic velocity: in the left common femoral artery (p = 0.002; d = −0.748, moderate), in the right deep femoral artery (p = 0.028; d = −0.521, small), in the right superficial femoral artery (p = 0.026; d = −0.522, small), in the right popliteal artery (p = 0.002; d = −0.763, moderate), and in the left popliteal artery (p = 0.007; d = −0.655, moderate). Moreover, the athletes’ group presented the highest mean values, with the exception of the systolic velocity of the left deep femoral artery. In intragroup analysis of variance referring to systolic and diastolic velocities in arterial levels in the right and left arteries, differences were found in all analyses (p ≤ 0.05). Conclusions: We conclude that futsal athletes of our sample go through a process of changes such as increased blood flow velocity in systolic and diastolic cardiac phase in all studied lower limb arteries, showing that the remodeling occurs regardless of vessel radius. Our results reinforce the existence of vascular remodeling that may vary with the sport and its intensity.
Introduction: Pulmonary Hypertension (PH) is defined as an increase in mean pulmonary artery (PA) pressure above 25mmHg at rest and an increase of 30mmHg with exertion. In more advanced pathological stages, structural changes may occur in the cardiac chambers due to hemodynamic changes. Objectives: To verify if PH patients present with right-side hemodynamic and structural changes. Material and Methods: The study was carried out using a database of the cardiology service of a local health unit in the central region of mainland Portugal. Patients studied were those with PH and those without PH. Although patients with PH were included, those presenting with uncontrolled arterial hypertension, diabetes mellitus and/or congenital cardiac alterations were excluded. Results: The sample consisted of 113 individuals, of which 35 had PH (31.0%) and 68 did not have PH (69.0%). It was observed that in the group with PH there was a growing increase in the cardiac chambers and PA. It was also observed that the higher the Pulmonary Artery Systolic Pressure (PASP), the higher the value obtained in the cardiac chambers and PA. There was also a decrease in the tricuspid annular plane systolic excursion (TAPSE) value as a function of the increase in PASP, compared to lower values. The tricuspid regurgitation velocity (TRV) did not increase much in regards to the increase in PASP, with a greater accentuation of the 2.9-3.4m/s parameter in this correlation. Conclusion: Our study verified that structural and hemodynamic changes in the right heart chambers and PA occur in the presence of PH.
INTRODUTION: Considered a medium penetrance gene, CHEK2 codes for a kinase that is a key component of the DNA damage-signaling pathway. CHEK2 pathogenic variants were previously associated with breast and colorectal families and also with Li-Fraumeni phenotypes. Next generation sequencing (NGS) allowed for systematic inclusion of CHEK2 into gene panels. In here, we characterize the growing subgroup of CHECK2 BC families identified through our multidisciplinary program. METHODS: Identification and review of CHEK2 families identified between 01/2000-06/2018 (until 2014 only the c.1100delC was tested (MLPA, MRC Holland); since 2014 NGS methods used were either,Trusight Cancer sequencing panel (Illumina, San Diego, CA, USA) or BRCA MASTR Dx (Multiplicom, Niel, Belgium). Carriers were included in a prospective follow up program. RESULTS: 3646 index pts consented on gene testing. Most hereditary families (HF) were BRCA1/2 (374) (92%) but among non-BRCA HF bigger subgroups were 16 CHEK2, 10 Tp53 and 5 PALB2 HF. All CHEK2 index pts were diagnosed with only 3 different pathogenic variants: c.1100delC (9) c.319+2T>A (6) and c.593-1G>T (1 case of the only male BC pt in all CHEK2 pedigrees). Index pts: mostly (93,8%) to females, with a mean age at first cancer diagnosis of 39 years (yrs) (30-52), 62,5% between 30-39yrs. With the exception of a Non Hodgking's Lymphoma index case, all index pts had BC(93,8%), 68,8% of which were ductal carcinomas and 12,5% of intraductal, all strongly positive for the estrogen receptor. With a mean follow up of 8,26yrs (3-15), secondary cancer cases occurred in 37,5% of index pts (mostly, 12,5%, BC at a mean of 53yrs (41-59). Family phenotypes: data form 98 relatives (53,5% females) revealed diagnoses of BC (31,6%), prostate (8,1%), colorectal (7,1%) cancers. Only 22,2% of family cancers were diagnosed before 50yrs. VUS: Among several complex variants of unknown significance, c.1036C>T;p.Arg346Cys co-segregates in a predominantly male family with 3 prostate, 1 male and 1 female BC. DISCUSSION AND CONCLUSIONS: In the Portuguese population, emerging recurrent pathogenic variants in the CHEK2 gene, make it the most important non-BRCA BC gene so far. Carriers are included in prospective follow up but non-CHEK2 relatives are a challenge to genetic testing, as well as pedigree review, that questions its classification as a medium penetrance gene (or suggest the role of modifier factors). Citation Format: Gomes VL, Machado P, Fragoso S, Santos S, Coelho I, Parreira J, Rodrigues P, Rodrigues F, Clara A, Bento S, Luís A, Opinião A, Vaz F. CHEK2: the third susceptibility BReast CAncer (BC) gene? [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P5-09-09.
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