Cascade genetic testing is indicated for family members of individuals testing positive on a genetic test, and is particularly relevant for child health because of their vulnerability and the long-term health and economic implications. Cascade testin...
The IMPACT-FH study implemented strategies (packet, chatbot, direct contact) to promote family member cascade testing for familial hypercholesterolemia (FH). We evaluated the impact of genetic counseling (GC) on medical outcomes, strategy selection,...
Cascade genetic testing and surveillance reduce morbidity and mortality in Lynch syndrome. However, barriers to conveying information about genetic disorders within families result in low uptake of genetic testing. Provider-mediated interventions may...
Background: Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In order to identify individuals at risk in a cost-efficient manner, family members of individuals carrying pathogenic...
Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. “Traceback” cascade testing —outreach to potential probands and relatives—is a possible s...
Background: The national guidelines, informed by evidence from the National Institutes of Health (NIH), define the criteria for genetic testing of BRCA1/2 and other genes associated with Hereditary Breast and Ovarian Cancer (HBOC) and Lynch Syndrome...
The thrust reverser system stands as the critical component in contemporary large civil aviation, significantly impacting operational efficiency. Owing to their significant weight-reduction benefits, composite materials have emerged as a prominent tr...
(1) Background: In the U.S., men who have sex with men (MSM) account for the majority of new HIV infections. On the other hand, pre-exposure prophylaxis (PrEP) is an effective strategy to curb HIV transmission, but it is widely underutilized. It is u...
Cascade screening for Tier 1 cancer genetic conditions is a significant public health intervention because it identifies untested relatives of individuals known to carry pathogenic variants associated with hereditary breast and ovarian cancer (HBOC)...
Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relati...
Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retar...
Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified int...
The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic tes...
The 0-1 test for chaos, which is a simple binary method, has been widely used to detect the nonlinear behaviors of the non-cascade chaotic dynamics. In this paper, the validity checks of the 0-1 test for chaos to the popular cascade Logistic-Cubic (L...
BRCA1/2 germline mutations predispose carriers to an increased risk of breast, ovarian, prostate, pancreatic, and skin cancer. Men and women are equally likely to pass on or inherit the pathogenic variant. However, there is evidence that male relativ...
Increasing testing is key to achieving hepatitis C elimination. This retrospective study aimed to assess the testing cascade of patients at a regional hospital in Victoria, Australia, who inject drugs or are living with hepatitis C, to identify misse...
18 November 2022
Since the early 1980s, HIV/AIDS has been an ongoing public health concern [...]
Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. A...
Cardiomyopathy is a major cause of heart failure caused by abnormalities of the heart muscles that make it harder for it to fill or eject blood. With technological advances, it is important for patients and families to understand that there are poten...
To inform guidelines for screening family members of patients with familial hypercholesterolemia (FH), we designed a clinical trial to compare the yield of cascade screening in FH patients with and without an identifiable pathogenic variant. Particip...
This paper contains an example of a simulation implementation of sliding mode control algorithms for the problem of adjusting the linear position of a quadrotor. A mathematical model of the drone was proposed, which was then implemented in a simulati...
Lynch syndrome (LS) is a hereditary cancer susceptibility condition associated with varying cancer risks depending on which of the five causative genes harbors a pathogenic variant; however, lifestyle and medical interventions provide options to lowe...
Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes is key to realizing the promise of precision medicine. We conducted a qualitative study to design a patient- and family-centered program for direct contact o...
Background: In search of indicators for dementia, this study investigated the association of cerebrospinal fluid (CSF) biomarkers and neuropsychological test results with disease stage in patients with early manifestations of dementia. Methods: In 19...
Hospital admissions are a missed opportunity to engage people living with hepatitis C virus (HCV) into care. This study aimed to describe the proportion of hospital inpatients and emergency department (ED) patients identified with hepatitis C who wer...
Background/Objectives: Multi-gene, multi-cancer, hereditary cancer risk screenings may be useful in cancer prevention and treatment, not only for cancer patients but also for patients’ family members. If genetic cancer screening is to have the...
Genetic risk information has relevance for patients’ blood relatives. However, cascade testing uptake in at-risk families is <50%. International research supports direct notification of at-risk relatives by health professionals (HPs), with p...
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caus...
This study investigates the genetic background of pediatric-onset cardiac channelopathies, a rare group of genetic disorders causing arrhythmias and sometimes sudden death, whose genetic background remains partially unknown. The research analyzed 59...
Real-time statistical inference plays a pivotal role in maritime Command and Control (C2) environments, particularly for applications such as satellite-based object detection and underwater signal interpretation. These contexts often require online m...
The need for innovative heating and cooling systems to decarbonize the building sector is widely recognized. It is especially important to increase the share of renewables at building level by maximizing self-consumption and reducing the primary ener...
Organised attacks on a computer system to test existing defences, i.e., penetration testing, have been used extensively to evaluate network security. However, penetration testing is a time-consuming process. Additionally, establishing a strategy that...
Recently, urinary tract infection (UTI) triggered by bacteria carrying pan-drug-resistant genes, including carbapenem resistance gene blaNDM and blaKPC, colistin resistance gene mcr-1, and tet(X) for tigecycline resistance, have been reported, posing...
3 February 2025
Aviation accounts for a significant share of global CO2 emissions, necessitating efficient propulsion technologies to achieve net-zero emissions by 2050. Geared turbofan architectures offer a promising solution by enabling higher bypass ratios and im...
Tuberculosis preventive treatment (TPT) is an important intervention in preventing infection and reducing TB incidence among household contacts (HHCs). A mixed-methods study was conducted to assess the “Test and Treat” model of TPT care c...
Guided by the Conceptual Model of Implementation Research, we explored the acceptability, appropriateness, and feasibility of: (1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evalu...
Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to id...
Dielectric quality tests require a high AC voltage with a frequency range of 0.0001 Hz to 1000 Hz. However, providing a high AC voltage with such a frequency variety is challenging. Providing a high DC voltage and then applying such a voltage to an i...
Pathogenic germline variants in Breast Cancer 1/2 (BRCA) genes confer increased cancer risk. Understanding BRCA status/risk can enable family cascade screening and improve cancer outcomes. However, more than half of the families do not communicate fa...
People who inject drugs (PWID) are disproportionately affected by hepatitis C virus (HCV) infections and are frequently homeless. To improve HCV case finding in these individuals, we examined the feasibility of rapid HCV RNA testing in homeless servi...
This study explores perceptions and preferences on receiving genetic risk information about hereditary cancer risk in members of the Swedish public. We conducted qualitative content analysis of five focus group discussions with participants (n = 18)...
In this paper, we propose a new system for a sequential secret key agreement based on 6 performance metrics derived from asynchronously recorded EEG signals using an EMOTIV EPOC+ wireless EEG headset. Based on an extensive experiment in which 76 part...
Reward Deficiency Syndrome (RDS) is defined as a breakdown of reward neurotransmission that results in a wide range of addictive, compulsive, and impulsive behaviors. RDS is caused by a combination of environmental (epigenetic) influences and DNA-bas...
We compared a tailored and a targeted intervention designed to increase genetic testing, clinical breast exam (CBE), and mammography in young breast cancer survivors (YBCS) (diagnosed <45 years old) and their blood relatives. A two-arm cluster ran...
To enhance the efficiency of solving the optimal operation model for cascade reservoirs, this paper first constructed an optimal operation model of cascade reservoirs. The model comprehensively considered the ecological flow, the guaranteed output of...
15 August 2019
This paper aims at evaluating the characteristics of the wakes periodically shed by the rotating bars of a spoked-wheel type wake generator installed upstream of a high-speed low Reynolds linear low-pressure turbine blade cascade. Due to the very hig...
Reservoir optimal operation considering aquatic ecological protection is a hot topic in current research. This paper proposes an improved minimum monthly average runoff method (IMMR) for calculating environmental flow and an improved invasive weed op...
To achieve hepatitis C virus (HCV) elimination, high uptake along the care cascade steps for all will be necessary. We mapped engagement with the care cascade overall and among priority groups in the post-direct-acting antivirals (DAAs) period and as...
Objectives: Assessing implant stability is integral to dental implant therapy. This study aimed to construct a multi-task cascade convolution neural network to evaluate implant stability using cone-beam computed tomography (CBCT). Methods: A dataset...
The performance simulation of an axial turbine is achieved in a simple way from the calculation of velocity diagrams. For this purpose, a reliable loss model is needed for the flow through each stationary or rotating axial blade cascade. A loss coeff...
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