67 Results Found

Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives’ dyslipidemia history on individua...

In this case control study, we examined the retinal thickness of the different layers in the macular region and peripapillary retinal nerve fiber layer (RNFL) with optical coherence tomography (OCT) in healthy cognitive subjects (from 51 to 74 years...

Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is...

Inherited cancer predisposition genes are described as risk factors in head and neck cancer (HNC) families. To explore the clinical and epidemiological data and their association with a family history of cancer, we recruited 74 patients and 164 relat...

Children with ASD have a wide spectrum of functional deficits in multiple neurodevelopmental domains. A multidisciplinary team assessment (MDT) is required to assess those deficits to help construct a multimodal intervention plan. This is a retrospec...

Background: Familial pulmonary fibrosis (FPF) can be defined as pulmonary fibrosis in two or more first-degree family members. The first-degree family members of FPF patients are at high risk of developing FPF and are eligible for screening. Reproduc...

Psoriasis is considered to result from the interaction of genetic factors and environmental exposure. The evidence for familial aggregation in psoriasis has been reported but population-based studies related to the magnitude of genetic contribution t...

Multiple studies have demonstrated an association between cancer and nonsyndromic oral clefts in different populations. In this study, we assessed the occurrence of nonsyndromic oral clefts in families of patients with acute lymphoblastic leukemia (A...

We present the case of a 35-year-old male with a first-degree family history of gastric cancer (his father was diagnosed at the age of 45), who was presumed to have gastric cancer himself when evaluating the features of his upper endoscopy performed...

Sudden cardiac death of the young (SCDY) is a devastating event for families and communities. Family history is a significant risk factor for this potentially preventable cause of death, however a complete and detailed family history is not commonly...

Background: The aim of this study was to evaluate the performance of the diagnostic pathway proposed by the European Society of Cardiology (ESC) guidelines for identifying the underlying aetiology of sudden cardiac death (SCD) through the screening o...

Comprehensive analyses of the association between a family history of lung cancer and lung cancer risk are limited, especially in the Korean population. We used baseline data from the Korean Genome and Epidemiology Study, conducted between 2001 and 2...

Background: Lipoprotein(a) [Lp(a)] is a proatherogenic particle associated with increased cardiovascular risk. It is mainly genetically determined; so, the aim of our study is to evaluate the levels of Lp(a) in the relatives of a prospective cohort o...

Heritable thoracic aortic disease (HTAD) is a term used to define a large group of disorders characterized by the occurrence of aortic events, mainly represented by aneurysm or dissection. These events generally involve the ascending aorta, although...

This study assessed the knowledge and attitude of patients with ovarian cancer (OC) toward OC and next generation sequencing (NGS). The data, including characteristics of patients, their knowledge about OC and their knowledge and attitude of NGS, wer...

Prostate cancer (PC) is one of the most prevalent tumours in the world, however, the hereditary (Hereditary PC; HPC) form is a rare pathology, that does not exceed 6%. Despite its very low incidence, a family history of PC in a first-degree relative...

Introduction: Recent studies confirm the association of literacy difficulties with higher risk of both childhood behavioral and mental disorders. When co-morbid problems occur, it is likely that each will require separate treatment. The management of...

Although there is a clear relationship between family history (FH) and the risk of gastric cancer (GC), quantification is still needed in relation to different histological types and anatomical sites, and in strata of covariates. The objective was to...

Individuals with a family history of colorectal cancer (CRC) are at a high risk of developing CRC. Preclinical and population-based evidence suggests that selective serotonin reuptake inhibitors (SSRIs) might play a role in preventing CRC. We perform...

Colonoscopy is the best screening choice for at-risk persons, because it offers prevention through the removal of preneoplastic lesions in addition to early detection. This study aims to report the participation rate of colonoscopy screening and exam...

Since the American Heart Association’s recommendation for familial screening of adults with congenital heart disease for bicuspid aortic valve, similar recommendations for other left-sided heart defects, such as hypoplastic left heart syndrome (HLHS)...

Background: Familial cancer can be defined through the occurrence of the same cancer in two or more family members. We describe a nationwide landscape of familial cancer, including its frequency and the risk that it conveys, by using the largest fami...

Background: In families with a proven BRCA1/2 mutation, women not carrying the familial mutation should follow the cancer screening recommendations applying to women in the general population. In the present study, we evaluated the cancer screening p...

Background/Objectives: Pathogenic and likely pathogenic variants in the BRCA1 and BRCA2 genes are associated with a significantly increased risk of breast and/or ovarian cancer. We investigated genetic variants in a cohort of 450 unaffected individua...

Qatar has a high obesity and type 2 diabetes mellitus (T2DM) burden. This study aimed to (1) determine the prevalence of overweight, obesity, and T2DM in 13–17-year-old adolescents and (2) evaluate associations with adolescents’ lifestyle...

Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe, multisystemic, autosomal dominant disease with variable penetrance caused by mutations in the TTR gene generating protein misfolding and accumulation of amyloid fibrils. The diag...

In multiple endocrine neoplasia type 1 (MEN1), the causative MEN1 gene mutations lead to the reduced expression of menin, which is a tumor suppressor protein. In this study, we present a case of a 16-year-old woman with severe primary hyperparathyroi...

After reporting the first known clinical case associating compound heterozygous single-nucleotide variants in Exon 2 of ZNF469 to aortic aneurysmal and iliac dissection, we began prospective surveillance in our vascular genetic practice for similar c...

Pancreatic cancer (PC) is one of the most devastating malignancies; it has a 5-year survival rate of only 9%, and novel treatment strategies are urgently needed. While most PC cases occur sporadically, PC associated with hereditary syndromes or famil...

Aging and family history of type 2 diabetes (T2D) are known risk factors of T2D. Younger first-degree relatives (FDR) of T2D patients have shown early metabolic alterations, which could limit exercise’s ability to prevent T2D. Thus, the objecti...

Aim: The aim of this study was to determine whether women at risk of having screen-detected (including detected at advanced stage) and interval breast cancer can be accurately identified using conventional risk factors collected by national screening...

Micro-RNAs (miRNAs) have emerged as novel gene expression regulators. Recent evidence strongly suggests a role for miRNAs in a large variety of cancer-related pathways. Different studies have shown that 18.7 to 37% of all human miRNA genes are cluste...

Family history for CAD (coronary artery disease) is an established cardiovascular (CV) risk factor and it is progressively acquiring importance in patients’ CV risk stratification. Numerous studies have demonstrated that individuals with a firs...

Family history of thyroid cancer increases the risk of harboring thyroid malignancies that end up having extrathyroidal extension (ETE) and multifocality on histology; some authors suggest a more aggressive surgical approach. Their pre-operative iden...

Family health history (FHH) is an essential foundation for personalized disease prevention. As the incidence of early-onset chronic diseases is increasing among college students, it is important to provide them with the education required to learn ab...

This study aimed to analyze the evolution of visual changes in cognitively healthy individuals at risk for Alzheimer’s disease (AD). Participants with a first-degree family history of AD (FH+) and carrying the Ε4+ allele for the ApoE ge...

Background: Pediatric-onset familial inflammatory bowel disease (IBD) may differ from sporadic pediatric-onset IBD in its genetic and environmental background and may have distinct clinical and therapeutic implications. Objective: To evaluate the inf...

Genetic and environmental factors are involved in the pathogenesis of inflammatory bowel diseases (IBD). The study aimed at investigating the potential influence of single nucleotide polymorphisms (SNPs) NOD2 rs2066844, NOD2 rs2066845, NOD2 rs2066847...

Antidepressants are standardly used to treat moderate to severe symptoms of depression and/or anxiety in youth but may also be associated with rare but serious psychiatric adverse events such as irritability, agitation, aggression, or suicidal ideati...

Varying estimates of the cost-effectiveness of genomic testing applications can reflect differences in study questions, settings, methods and assumptions. This review compares recently published cost-effectiveness analyses of testing strategies for L...

Breast cancer (BC) is the second leading cause of death in women. BC patients with family history or clinical features suggestive of inherited predisposition are candidate to genetic testing to determine whether a hereditary cancer syndrome is presen...

Introduction: Sharing genetic test results with different stakeholders such as family members, healthcare providers and genetic counselors (HCP/GCs), spouses/partners, and friends is a health behavior of clinical importance in genomic medicine. Metho...

Systemic lupus erythematosus (SLE) is a clinically and genetically heterogeneous autoimmune disease. The etiology of lupus and the contribution of genetic, environmental, infectious and hormonal factors to this phenotype have yet to be elucidated. Th...

Background: Undescended testis (UDT) is the most frequent pediatric anomaly of the male genitals, with a high incidence in premature male neonates. Due to the risk of long-term complications such as infertility, testicular malignancy, and psychologic...

Background and Aims: Cardiovascular disease and colorectal cancer (CRC) are significant health problems and share some risk factors. The aim of our study was to develop and validate a predictive score for advanced colorectal neoplasia (CRN) based on...

Our objective is to present an exceptional case of a patient diagnosed with Paget’s disease of the bone (PDB) while being confirmed with Lynch syndrome (LS). A 44-year-old woman was admitted for progressive pain in the left forearm 2 years ago,...

Family history remains one of the strongest risk factors for breast cancer. It is well established that women with a first-degree relative affected by breast cancer are twice as likely to develop the disease themselves. Twins studies indicate that th...

Serrated polyposis syndrome (SPS) is characterized by the development of multiple colorectal serrated polyps and increased predisposition to colorectal cancer (CRC). However, the molecular basis of SPS, especially in cases presenting family history o...

Germline pathogenic variants in the CDH1 gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize CDH1 mutations associated with HDGC from Chile, a country with one of the highe...

We assessed the diagnostic potential of cardiovascular disease-associated microRNAs for the early prediction of gestational diabetes mellitus (GDM) in singleton pregnancies of Caucasian descent in the absence of other pregnancy-related complications....