Traditional Cardiovascular Risk Factors as Predictors of Cardiovascular Events in the U.S. Astronaut Corps

Risk prediction equations from the Framingham Heart Study are commonly used to predict the absolute risk of myocardial infarction (MI) and coronary heart disease (CHD) related death. Predicting CHD-related events in the U.S. astronaut corps presents a monumental challenge, both because astronauts tend to live healthier lifestyles and because of the unique cardiovascular stressors associated with being trained for and participating in space flight. Traditional risk factors may not hold enough predictive power to provide a useful indicator of CHD risk in this unique population. It is important to be able to identify individuals who are at higher risk for CHD-related events so that appropriate preventive care can be provided. This is of special importance when planning long duration missions since the ability to provide advanced cardiac care and perform medical evacuation is limited. The medical regimen of the astronauts follows a strict set of clinical practice guidelines in an effort to ensure the best care. The purpose of this study was to evaluate the utility of the Framingham risk score (FRS), low-density lipoprotein (LDL) and high-density lipoprotein levels, blood pressure, and resting pulse as predictors of CHD-related death and MI in the astronaut corps, using Cox regression. Of these factors, only two, LDL and pulse at selection, were predictive of CHD events (HR(95% CI)=1.12 (1.00-1.25) and HR(95% CI)=1.70 (1.05-2.75) for every 5-unit increase in LDL and pulse, respectively). Since traditional CHD risk factors may lack the specificity to predict such outcomes in astronauts, the development of a new predictive model, using additional measures such as electron-beam computed tomography and carotid intima-media thickness ultrasound, is planned for the future

Making tourist guidance systems more intelligent, adaptive and personalised using crowd sourced movement data

Ambient intelligence (AmI) provides adaptive, personalized, intelligent, ubiquitous and interactive services to wide range of users. AmI can have a variety of applications, including smart shops, health care, smart home, assisted living, and location-based services. Tourist guidance is one of the applications where AmI can have a great contribution to the quality of the service, as the tourists, who may not be very familiar with the visiting site, need a location-aware, ubiquitous, personalised and informative service. Such services should be able to understand the preferences of the users without requiring the users to specify them, predict their interests, and provide relevant and tailored services in the most appropriate way, including audio, visual, and haptic. This paper shows the use of crowd sourced trajectory data in the detection of points of interests and providing ambient tourist guidance based on the patterns recognised over such data

The significance of functional renal obstruction in predicting pathologic stage of upper tract urothelial carcinoma.

BACKGROUND AND PURPOSE: Assessing the severity of upper tract urothelial carcinoma (UTUC) has been difficult because of inadequate biopsy specimens. Additional predictive parameters of disease stage would be useful when deciding a treatment plan; it has been suggested that preoperative hydronephrosis can be a surrogate. We examined the relationship between preoperative ipsilateral renal obstruction identified by imaging with final pathologic stage after nephroureterectomy (NU) for UTUC. We then analyzed those patients with ipsilateral renal obstruction and examined if tumor location is associated with an advanced pathologic stage. METHODS: Patients who underwent NU for UTUC between the years 2001 to 2013 were analyzed and relevant staging studies and pathology were reviewed. Criteria for ipsilateral renal obstruction were defined by the presence of a delayed nephrogram on CT scan, renal cortical atrophy with associated hydronephrosis on cross-sectional imaging, and/or \u3e10% split function discrepancy on nuclear renal scintigraphy with associated hydronephrosis. RESULTS: Eighty-two patients met inclusion criteria; 26/82 (31.7%) had locally advanced disease (pT3/T4), while 56/82 (63.4%) had organ-confined (≤pT2) disease. Of the patients with pT3/T4 disease, 10/26 (38.5%) demonstrated radiographic evidence of functional obstruction of the ipsilateral renal unit; similarly, in patients with ≤pT2 disease, 21/56 (37.5%) demonstrated ipsilateral renal obstruction (P=0.93). Of the patients with ipsilateral renal obstruction, in those patients with pT3/T4 disease, 7/10 (70.0%) had ureteral tumor involvement while 9/21 (42.9%) patients with ≤pT2 disease had tumor in the ureter (P=0.25). CONCLUSIONS: This study suggests that renal obstruction by radiographic analysis does not always predict advanced stage. In addition, there is a trend toward advanced stage when a patient has radiographic evidence of ipsilateral renal dysfunction and a ureteral tumor

Identification of a novel KCNQ1 frameshift mutation and review of the literature among iranian long QT families

Background: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. Methods: Molecular investigation was performed by DNA Sanger sequencing in Iranian families with a history of syncope. In silico examinations were performed for predicting the pathogenicity of the novel variant. Results: A novel homozygous KCNQ1 frameshift mutation, c.14261429delATGC (M476Pfs*4), was identified, and then the current literatures of five patients were reviewed regarding the LQTS. Conclusion: The novel frameshift mutation has been reported for the first time among the Iranian population. Our finding along with the case series study of LQTS patients illustrates the importance of genetic and case series in precise detection of the frequency of LQTS carrierscarriers. © 2019, Pasteur Institute of Iran. All rights reserved

Novel frameshift mutation in the KCNQ1 gene responsible for jervell and lange-nielsen syndrome

Objective(s): Jervell and Lange�Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. Results: DNA sequencing showed a c.15321534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. Conclusion: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. © 2018, Mashhad University of Medical Sciences. All rights reserved

Novel frameshift mutation in the KCNQ1 gene responsible for jervell and lange-nielsen syndrome

Objective(s): Jervell and Lange�Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. Results: DNA sequencing showed a c.15321534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. Conclusion: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. © 2018, Mashhad University of Medical Sciences. All rights reserved

Hepatitis b vertical transfer and its risk factors in pregnant women in the eastern part of iran

One of the main causes of chronic hepatitis is mother to child transfer which is also known as vertical transfer (VT). Although there are several studies regarding the VT mechanism and its risk factors, none of these studies succeeded in explaining this process, completely. We conducted this study aiming at investigating VT mechanism and risk factors in this region. The present study was a descriptive-analytic cross-sectional study on HBS Ag positive pregnant women, which was conducted from March 2018 to March 2020 in Amir-AlMomenin Hospital in Zabol, Sistan-and-Baluchestan province, Iran. In this study all samples were tested for HBV markers (HBsAg, anti-HBs, HBeAg, anti-HBe, anti-HBc, and HBV-DNA) and anti-HCV by enzyme-linked immunosorbent assay (ELISA). All statistical analyzes were performed using SPSS version 22 software. Totally 43 infants of HBS antigen positive mothers were investigated. HBe antibody and HBe antigen were found in 25 (62.5%) and 2 (5%) of mothers, respectively. There was no significant difference between the newborns with and without hepatitis B infection regarding maternal age (p=0.216), duration of the infection in mother (p=0.892), AST (0.779), AL (0.449) and ALP (0.065). Mothers with positive viral load during pregnancy delivered newborns with positive HBS antigen much more than mothers with negative HBS antigen. However, this difference was not statistically significant (p=0.642). Although positive viral load was more common in neonates delivered from positive viral load mothers, the observed difference was also remained non-significant (p=0.978). Our study provided evidences regarding that demographic, immunologic and clinical characteristics of mothers with hepatitis B infection did not play considerable role in the vertical transmission of the infection to the newborns as well as the severity of the following infection. We also suggested the possibility of placenta acting as a source of infection in VT. Further longitudinal studies with larger sample sizes are needed to show the exact predictors of transmission of the infection from infected mothers to their children, Amirian S., Afshari M., Parooie F., Keikhaie K.R., Shahramian I., Bazi A., Ostadrahimi P., Sheikh M., Mirzaie H., Aminisefat A. One of the main causes of chronic hepatitis is mother to child transfer which is also known as vertical transfer (VT). Although there are several studies regarding the VT mechanism and its risk factors, none of these studies succeeded in explaining this process, completely. We conducted this study aiming at investigating VT mechanism and risk factors in this region. The present study was a descriptive-analytic cross-sectional study on HBS Ag positive pregnant women, which was conducted from March 2018 to March 2020 in Amir-AlMomenin Hospital in Zabol, Sistan-and-Baluchestan province, Iran. In this study all samples were tested for HBV markers (HBsAg, anti-HBs, HBeAg, anti-HBe, anti-HBc, and HBV-DNA) and anti-HCV by enzyme-linked immunosorbent assay (ELISA). All statistical analyzes were performed using SPSS version 22 software. Totally 43 infants of HBS antigen positive mothers were investigated. HBe antibody and HBe antigen were found in 25 (62.5%) and 2 (5%) of mothers, respectively. There was no significant difference between the newborns with and without hepatitis B infection regarding maternal age (p=0.216), duration of the infection in mother (p=0.892), AST (0.779), AL (0.449) and ALP (0.065). Mothers with positive viral load during pregnancy delivered newborns with positive HBS antigen much more than mothers with negative HBS antigen. However, this difference was not statistically significant (p=0.642). Although positive viral load was more common in neonates delivered from positive viral load mothers, the observed difference was also remained non-significant (p=0.978). Our study provided evidences regarding that demographic, immunologic and clinical characteristics of mothers with hepatitis B infection did not play considerable role in the vertical transmission of the infection to the newborns as well as the severity of the following infection. We also suggested the possibility of placenta acting as a source of infection in VT. Further longitudinal studies with larger sample sizes are needed to show the exact predictors of transmission of the infection from infected mothers to their childre

Quality assessment of OpenStreetMap data using trajectory mining

OpenStreetMap (OSM) data are widely used but their reliability is still variable. Many contributors to OSM have not been trained in geography or surveying and consequently their contributions, including geometry and attribute data inserts, deletions, and updates, can be inaccurate, incomplete, inconsistent, or vague. There are some mechanisms and applications dedicated to discovering bugs and errors in OSM data. Such systems can remove errors through user-checks and applying predefined rules but they need an extra control process to check the real-world validity of suspected errors and bugs. This paper focuses on finding bugs and errors based on patterns and rules extracted from the tracking data of users. The underlying idea is that certain characteristics of user trajectories are directly linked to the type of feature. Using such rules, some sets of potential bugs and errors can be identified and stored for further investigation

Mitigation of motion-induced artifacts in cone beam computed tomography using deep convolutional neural networks

Background: Cone beam computed tomography (CBCT) is often employed on radiation therapy treatment devices (linear accelerators) used in image-guided radiation therapy (IGRT). For each treatment session, it is necessary to obtain the image of the day in order to accurately position the patient, and to enable adaptive treatment capabilities including auto-segmentation and dose calculation. Reconstructed CBCT images often suffer from artifacts, in particular those induced by patient motion. Deep-learning based approaches promise ways to mitigate such artifacts. Purpose: We propose a novel deep-learning based approach with the goal to reduce motion induced artifacts in CBCT images and improve image quality. It is based on supervised learning and includes neural network architectures employed as pre- and/or post-processing steps during CBCT reconstruction. Methods: Our approach is based on deep convolutional neural networks which complement the standard CBCT reconstruction, which is performed either with the analytical Feldkamp-Davis-Kress (FDK) method, or with an iterative algebraic reconstruction technique (SART-TV). The neural networks, which are based on refined U-net architectures, are trained end-to-end in a supervised learning setup. Labeled training data are obtained by means of a motion simulation, which uses the two extreme phases of 4D CT scans, their deformation vector fields, as well as time-dependent amplitude signals as input. The trained networks are validated against ground truth using quantitative metrics, as well as by using real patient CBCT scans for a qualitative evaluation by clinical experts. Results: The presented novel approach is able to generalize to unseen data and yields significant reductions in motion induced artifacts as well as improvements in image quality compared with existing state-of-the-art CBCT reconstruction algorithms (up to +6.3 dB and +0.19 improvements in peak signal-to-noise ratio, PSNR, and structural similarity index measure, SSIM, respectively), as evidenced by validation with an unseen test dataset, and confirmed by a clincal evaluation on real patient scans (up to 74% preference for motion artifact reduction over standard reconstruction). Conclusions: For the first time, it is demonstrated, also by means of clinical evaluation, that inserting deep neural networks as pre- and post-processing plugins in the existing 3D CBCT reconstruction and trained end-to-end yield significant improvements in image quality and reduction of motion artifacts

Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium

Glioma is a rare, but highly fatal, cancer that accounts for the majority of malignant primary brain tumors. Inherited predisposition to glioma has been consistently observed within non-syndromic families. Our previous studies, which involved non-parametric and parametric linkage analyses, both yielded significant linkage peaks on chromosome 17q. Here, we use data from next generation and Sanger sequencing to identify familial glioma candidate genes and variants on chromosome 17q for further investigation. We applied a filtering schema to narrow the original list of 4830 annotated variants down to 21 very rare (,0.1% frequency), non-synonymous variants. Our findings implicate the MYO19 and KIF18B genes and rare variants in SPAG9 and RUNDC1 as candidates worthy of further investigation. Burden testing and functional studies are planned