Search results for "Family History."

Diagnostic accuracy of computed tomographic colonography for the detection of advanced neoplasia in individuals at increased risk of colorectal cance…

2009

CONTEXT: Computed tomographic (CT) colonography has been recognized as an alternative for colorectal cancer (CRC) screening in average-risk individuals, but less information is available on its performance in individuals at increased risk of CRC. OBJECTIVE: To assess the accuracy of CT colonography in detecting advanced colorectal neoplasia in asymptomatic individuals at increased risk of CRC using unblinded colonoscopy as the reference standard. DESIGN, SETTING, AND PARTICIPANTS: This was a multicenter, cross-sectional study. Individuals at increased risk of CRC due to either family history of advanced neoplasia in first-degree relatives, personal history of colorectal adenomas, or positiv…

The burden of previous fractures in hip fracture patients. The Break Study

2011

A positive history of fractures in older patients with hip fracture is common. We determined the risk factors associated with a positive history of fractures and the profile of care in hip fracture patients. In the Break Study, we enrolled 1249 women aged ≥60 years, seeking care for a hip fracture. Baseline information included age, body mass index, lifestyle (smoking habit, alcohol consumption), patient's history of fracture after the age of 50 years, family history of fragility fracture and health status (presence of comorbidity, use of specific drugs, pre-fracture walking ability, type of fracture, time to surgery, type of surgery, osteoporosis treatment). In the multivariable model age,…

Oral manifestations of Type I Neurofibromatosis in a family

2011

Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I). Neurofibromatosis type I is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and neurofibromas) as well as bone malformations and central nervous system tumors. Diagnosis is based on a series of clinical criteria. NF-I presents with certain definite oral manifestations which confers to the dentists a major responsibil…

Frequency of a positive family history of colorectal cancer in general practice: a cross-sectional study.

2016

BACKGROUND Evidence on the frequency of a positive family history of colorectal cancer (CRC) among individuals aged <55 years is lacking. General practice setting might be well suited for the identification of individuals in this above-average risk group. OBJECTIVE To determine the frequency of a reported positive family history of CRC among patients aged 40 to 54 years in a general practice setting. METHODS We conducted a cross-sectional study in 21 general practices in Germany. Patients aged 40 to 54 years were identified by means of the practice software and interviewed by health care assistants using a standardized four-item questionnaire. Outcome was occurrence of a positive family his…

Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel …

2021

Background Hereditary breast cancer (BC), ovarian cancer (OC), and pancreatic cancer (PC) are the major BRCA-associated tumours. However, some BRCA1/2-wild-type (wt) patients with a strong personal and/or family history of cancer need a further genetic testing through a multi-gene panel containing other high- and moderate-risk susceptibility genes. Patients and methods Our study was aimed to assess if some BC, OC, or PC patients should be offered multi-gene panel testing, based on well-defined criteria concerning their personal and/or family history of cancer, such as earliness of cancer onset, occurrence of multiple tumours, or presence of at least two or more affected first-degree relativ…

Malignancy Risk Models for Oral Lesions

2013

Objectives: The aim of this work was to assess risk habits, clinical and cellular phenotypes and TP53 DNA changes in oral mucosa samples from patients with Oral Potentially Malignant Disorders (OPMD), in order to create models that enable genotypic and phenotypic patterns to be obtained that determine the risk of lesions becoming malignant. Study Design: Clinical phenotypes, family history of cancer and risk habits were collected in clinical histories. TP53 gene mutation and morphometric-morphological features were studied, and multivariate models were applied. Three groups were estabished: a) oral cancer (OC) group (n=10), b) OPMD group (n=10), and c) control group (n=8). Results: An avera…

Lipoprotein(a) – Marker for cardiovascular risk and target for lipoprotein apheresis

2019

Lipoprotein(a) (Lp(a)) consists of an LDL particle whose apolipoprotein B (apoB) is covalently bound to apolipoprotein(a) (apo[a]). An increased Lp(a) concentration is a causal, independent risk factor for atherosclerotic cardiovascular disease (ASCVD) and a predictor of incident or recurrent cardiovascular events. Although Lp(a) was first described as early as 1963, only the more recent results of epidemiological, molecular, and genetic studies have led to this unequivocal conclusion. More than 20% of Western populations have elevated Lp(a) values. Lp(a) concentrations should be always part of the lipid profile when ASCVD risk is assessed. However, presence of other risk factors, laborator…

2021

Background Therapy for a first primary neoplasm (FPN) in childhood with high doses of ionizing radiation is an established risk factor for second primary neoplasms (SPN). An association between exposure to low doses and childhood cancer is also suggested; however, results are inconsistent. As only subgroups of children with FPNs develop SPNs, an interaction between radiation, genetic, and other risk factors is presumed to influence cancer development. Objective Therefore, the population-based, nested case-control study KiKme aims to identify differences in genetic predisposition and radiation response between childhood cancer survivors with and without SPNs as well as cancer-free controls.…

565 Reflection on a Case of Dopamine-Responsive Dystonia

2012

Background Characteristic symptoms of Dopamine-responsive dystonia (DRD) are increased muscle tone and Parkinsonian features. Children with DRD are often misdiagnosed. The disorder responds well to treatment with Levodopa. Aim To reflect on a case of DRD. Method Case report of a 13 years old girl misdiagnosed with tetany. Results The girl was hospitalized for opisthotonus, positive Trousseau and Chvostek signs, diagnosed as tetany. The laboratory analysis have shown: normal serum of calcium (2.28 mmol/l), normal serum of magnesium (0.80 mmol/l), normal serum of phosphor (1.26 mmol/l), normal alkaline phosphatase (261 u/l) and normal PTH (27.9 pg/ml). Although the initial evolution was favor…

743 Lysosomal Storage Disorders in Non-Immunological Hydrops Fetalis - More Common than Assumed?

2012

Background Although non immunological hydrops fetalis (NIHF) is a very rare disorder, the disturbance accounts for a disproportionate share (3%) of overall mortality in the perinatal period. Lysosomal storage disorders (LSD) are only exceptionally considered to be the cause of NIHF. The reported incidence is about 1%. On the other hand, in about 18% of all cases, NIHF is classified as idiopathic. Patients and methods We report four cases of transient NIHF due to LSD and reviewed the literature for LSD associated with NIHF. Results At present, 12 different LSD are described to be associated with NIHF. The majority of reported patients already had a family history of NIHF, which had not been …