Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

Next-generation sequencing in clinical diagnostics is providing valuable genomic variant data, which can be used to support healthcare decisions. In silico tools to predict pathogenicity are crucial to assess such variants and we have evaluated a new tool, Combined Annotation Dependent Depletion (CADD), and its classification of gene variants in Lynch syndrome by using a set of 2,210 DNA mismatch repair gene variants. These had already been classified by experts from InSiGHT's Variant Interpretation Committee.

Associations of intergenerational education with metabolic health in U.S. Latinos.

Objective: The purpose of this study was to examine the association of intergenerational education and country of birth with waist circumference, metabolic syndrome, and type 2 diabetes among older adult Latinos in the United States.

Methods: We used cross-sectional data from the Sacramento Area Latino Study on Aging, a cohort of older adult Mexican-American Latinos (mean age = 70 years). At baseline, we measured waist circumference and assessed metabolic syndrome and diabetes according to established guidelines (N = 1,789).

Quantitative magnetic resonance imaging evidence for altered structural remodeling of the temporal lobe in West syndrome.

Objective: To explore the structure-function relation of the temporal lobe in newly diagnosed West syndrome of unknown cause (uWS).

Methods: Quantitative magnetic resonance imaging (three-dimensional [3D] structural MRI and diffusion tensor imaging [DTI]) was analyzed using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) in 22 patients and healthy age-matched controls. The electrophysiologic responsiveness of the temporal lobe was measured using the N100 auditory event-related potential (aERP) to a repeated 1,000 Hz tone.

Hemodynamic significance of collateral blood flow in chronic venous obstruction.

Introduction: Complaints related to the post-thrombotic syndrome do not always correlate well with the extent of post-thrombotic changes on diagnostic imaging. One explanation might be a difference in development of collateral blood flow. The aim of this study is to investigate the hemodynamic effect of collateralisation in deep venous obstruction.

Tic symptom dimensions and their heritabilities in Tourette's syndrome.

Introduction: Gilles de la Tourette's syndrome (TS) is both genotypically and phenotypically heterogeneous. Gene-finding strategies have had limited success, possibly because of symptom heterogeneity.

Objective: This study aimed at specifically investigating heritabilities of tic symptom factors in a relatively large sample of TS patients and family members.

Does type 2 diabetes increase rate of cognitive decline in older Mexican Americans?

Estimating effects of diabetes on cognitive change among older Mexican Americans is important, yet challenging, because diabetes and cognitive decline both predict mortality, which can induce survival bias. Older Mexican Americans in the Sacramento Area Latino Study on Aging (n=1634) completed Modified Mini-Mental State Exams (3MSE) and diabetes assessments up to 7 times (from 1998 to 2007). We examined baseline and new-onset diabetes and cognitive decline with joint longitudinal-survival models to account for death.

Contemporary management of the demanding infra-renal neck in abdominal aortic aneurysm repair.

Proximal infrarenal neck anatomy is a crucial factor in determining outcome of abdominal aortic aneurysm (AAA) repair. Unfavorable or demanding infrarenal neck anatomy significantly increases the complexity of both standard endovascular and open repair resulting in increased rates of morbidity and mortality. While technological improvements and expanding institutional experience have resulted in an increased proportion of patients with an AAA with unfavorable infrarenal neck treated by (fenestrated) endovascular techniques, open repair has also remained a valid technique.

Strategies to prevent spinal cord ischemia in thoracoabdominal aortic aneurysm repair.

Spinal cord ischemia (SCI) after thoracic and thoracoabdominal aortic aneurysm repair is a devastating complication, which happens after both open and endovascular repair. Incidence of SCI varies widely in the literature. Many factors during preoperative, operative and postoperative phases influence this incidence.

Feasibility of low contrast media volume in CT angiography of the aorta.

Objectives: Using smaller volumes of contrast media (CM) in CT angiography (CTA) is desirable in terms of cost reduction and prevention of contrast-induced nephropathy (CIN). The purpose was to evaluate the feasibility of low CM volume in CTA of the aorta.

Methods: 77 patients referred for CTA of the aorta were scanned using a standard MDCT protocol at 100 kV.

Occupational Radiation Exposure During Endovascular Aortic Repair.

Purpose: The aim of the study was to evaluate the radiation exposure to operating room personnel and to assess determinants for high personal doses during endovascular aortic repair.

Materials And Methods: Occupational radiation exposure was prospectively evaluated during 22 infra-renal aortic repair procedures (EVAR), 11 thoracic aortic repair procedures (TEVAR), and 11 fenestrated or branched aortic repair procedures (FEVAR). Real-time over-lead dosimeters attached to the left breast pocket measured personal doses for the first operators (FO) and second operators (SO), radiology technicians (RT), scrub nurses (SN), anesthesiologists (AN), and non-sterile nurses (NSN).

CT colonography: accuracy, acceptance, safety and position in organised population screening.

Colorectal cancer (CRC) is the second most common cancer and second most common cause of cancer-related deaths in Europe. The introduction of CRC screening programmes using stool tests and flexible sigmoidoscopy, have been shown to reduce CRC-related mortality substantially. In several European countries, population-based CRC screening programmes are ongoing or being rolled out.

Relationship between glaucoma and admixture in postmenopausal African American women.

Objective: To investigate the association between African admixture and glaucoma prevalence among African American women.

Design, Setting, Participants: Participants included 11616 African American women from the Women's Health Initiative Study (WHI) for whom admixture information was available and included 2548 who self-reported a diagnosis of glaucoma.

Main Outcome Measures: Glaucoma.

Type 2 diabetes and cognitive decline over 14 years in middle-aged African Americans and whites: the ARIC Brain MRI Study.

Background: Diabetes predicts late-life dementia, but the association with rate of cognitive decline is inconsistent and has rarely been examined in non-white populations, despite the high prevalence of diabetes in African Americans. We evaluated the effect of diabetes on cognitive decline in middle-aged African Americans and whites.

Methods: Atherosclerosis Risk in Communities (ARIC) Brain MRI Study participants (n = 1,886, mean age = 60, 49% African American) underwent assessments of verbal memory, processing speed, and verbal fluency four times over 14 years.

Clinical indications for computed tomographic colonography: European Society of Gastrointestinal Endoscopy (ESGE) and European Society of Gastrointestinal and Abdominal Radiology (ESGAR) Guideline.

This is an official guideline of the European Society of Gastrointestinal Endoscopy (ESGE) and the European Society of Gastrointestinal and Abdominal Radiology (ESGAR). It addresses the clinical indications for the use of computed tomographic colonography (CTC). A targeted literature search was performed to evaluate the evidence supporting the use of CTC.

Angiotensin-(1-7)-induced renal vasodilation is reduced in human kidneys with renal artery stenosis.

Background: Angiotensin-(1-7) modulates renal blood flow in humans with essential hypertension by inducing vasodilation and counterbalancing angiotensin II-induced vasoconstriction. Little is, however, known about the effects of angiotensin-(1-7) in kidneys with atherosclerotic renal artery stenosis. We previously demonstrated that the effect of angiotensin-(1-7) is reduced in patients with increased activity of the renin-angiotensin system.

Impact of acculturation on cardiovascular risk factors among elderly Mexican Americans.

Purpose: Higher levels of acculturation among Latinos have been shown to be associated with a higher prevalence of cardiovascular (CV) risk factors in some studies of middle-age persons. The association of acculturation and prevalence of CV risk factors in elderly Latinos is less well established.

Methods: Acculturation was measured using the validated bidimensional Acculturation Rating Scale for Mexican Americans-II.

Fusion guidance in endovascular peripheral artery interventions: a feasibility study.

Purpose: This study was designed to evaluate the feasibility of endovascular guidance by means of live fluoroscopy fusion with magnetic resonance angiography (MRA) and computed tomography angiography (CTA).

Methods: Fusion guidance was evaluated in 20 endovascular peripheral artery interventions in 17 patients. Fifteen patients had received preinterventional diagnostic MRA and two patients had undergone CTA.

Cortical source analysis of high-density EEG recordings in children.

EEG is traditionally described as a neuroimaging technique with high temporal and low spatial resolution. Recent advances in biophysical modelling and signal processing make it possible to exploit information from other imaging modalities like structural MRI that provide high spatial resolution to overcome this constraint. This is especially useful for investigations that require high resolution in the temporal as well as spatial domain.

Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.

We report a genome-wide association study (GWAS) and admixture analysis of glaucoma in 12 008 African-American and Hispanic women (age 50-79 years) from the Women's Health Initiative (WHI). Although GWAS of glaucoma have been conducted on several populations, this is the first to look at glaucoma in individuals of African-American and Hispanic race/ethnicity. Prevalent and incident glaucoma was determined by self-report from study questionnaires administered at baseline (1993-1998) and annually through 2005.

Septocutaneous tensor fasciae latae perforator flap for breast reconstruction: radiological considerations and clinical cases.

Introduction: The deep inferior epigastric artery perforator (DIEP) flap is the first choice in autologous breast reconstruction; in cases when it cannot be used, alternative flaps are available. A radiological study and clinical cases using septocutaneous tensor fasciae latae (sc-TFL) flap for breast reconstruction are presented.

Materials: Magnetic resonance angiographies (MRAs) of 55 patients were evaluated.

Immigrant generation and diabetes risk among Mexican Americans: the Sacramento area Latino study on aging.

Objectives: We examined whether acculturation and immigrant generation, a marker for assimilation, are associated with diabetes risk in an aging Mexican-origin population.

Methods: We analyzed data on 1789 adults aged 60 to 101 years from the Sacramento Area Latino Study on Aging. We ascertained type 2 diabetes on the basis of diabetic medication use, self-report of physician diagnosis, or a fasting glucose of 126 milligrams/deciliter or greater.

Radiation exposure of abdominal cone beam computed tomography.

Purpose: To evaluate patients radiation exposure of abdominal C-arm cone beam computed tomography (CBCT).

Methods: This prospective study was approved by the institutional review board; written, informed consent was waived. Radiation exposure of abdominal CBCT was evaluated in 40 patients who underwent CBCT during endovascular interventions.

The current endovascular therapeutic spectrum for short neck and juxtarenal aneurysms.

Endovascular treatment of short neck infrarenal and juxtarenal abdominal aortic aneurysms (AAA) is feasible. Many different techniques have been used, including standard stent-grafts with or without adjuncts as endoanchors or chimney grafts, fenestrated stent-grafts or even newer concepts like the multilayer flow modulating stent. The purpose of this article was to describe the techniques, the indications and results of the various endovascular methods to treat short neck infrarenal and juxtarenal AAA.

CIRSE standards of practice guidelines on iliocaval stenting.

Chronic venous insufficiency (CVI) as an advanced stage of chronic venous disease is a common problem that occurs in approximately 1-5 % of the adult population. CVI has either a nonthrombotic (primary) or postthrombotic (secondary) cause involving reflux, obstruction, or a combination of both. The role of venous obstruction is increasingly recognized as a major cause of CVI, with obstructive lesions in the iliocaval segment being markedly more relevant than lesions at the levels of the crural and femoral veins.