Search results for "Genetic algorithm"
showing 10 items of 834 documents
Computed tomography-based tracheobronchial image reconstruction allows selection of the individually appropriate double-lumen tube size
1999
Objectives: To determine whether individualized selection of double-lumen tubes or alternatives based on three-dimensional reconstruction of the tracheobronchial image from routine preoperative computed tomography (CT) scans leads to clinically appropriate choices. Design: Prospective observational study; comparison to historic controls. Setting: Anesthesia and radiology facilities of a university medical center. Participants: Forty-nine patients undergoing thoracic surgery requiring one-lung ventilation. Interventions: Three-dimensional image reconstruction of individual tracheobronchial anatomy was performed from routine preoperative spiral CT scans as well as from scans of five left-side…
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.
2005
Hereditary predisposition to retinoblastoma is caused by germ line mutations in the RB1 gene. Genetic counseling of affected individuals and accurate risk prediction for their families requires identification of the disease causing mutation. Furthermore, the nature of a mutation can determine genetic penetrance, disease presentation and prognosis. We describe, and functionally characterize here, a novel mutant allele of RB1 present in the germ line of a patient with sporadic bilateral retinoblastoma. The mutation generates an operational splice acceptor site resulting in a predicted protein product with loss of 81 amino acids from its carboxy terminus. We demonstrate that the aberrantly spl…
The intravascular ultrasound morphometry of iliac veins in subjects without severe chronic venous insufficiency and its implications for treatment in…
2019
Objectives The purpose of this study is to report the intravascular ultrasound morphometry of iliac veins and its relation to demographic and anthropometric factors in subjects without chronic venous insufficiency. Methods Thirty-three patients, without chronic venous insufficiency – qualified to great saphenous vein stripping due to unilateral, primary varicose veins – participated in the study. During the surgery, left and right external iliac veins, common iliac veins and inferior vena cava were interrogated with intravascular ultrasound. The morphometric analysis included measurement of a cross-sectional area at normal, non-stenosed vein segments (ref-CSA) and at the point of the most p…
Influence of heart rate in the selection of the optimal reconstruction window in routine clinical multislice coronary angiography
2008
Purpose. The aim of our study was to assess the influence of heart rate on the selection of the optimal reconstruction window with 40-slice multidetector-row computed tomography (40-MDCT) coronary angiography. Materials and methods. We studied 170 patients (114 men, age 60 +/- 11.3 years) with suspected or known coronary artery disease with 40-MDCT coronary angiography. Patients [mean heart rate (HR) 62.9 +/- 9.3 bpm, range 42-94 bpm] were clustered in two groups (group A: HR <= 65 bpm; group B: HR >65 bpm). Multiphase reconstruction data sets were obtained with a retrospective electrocardiogram (ECG)-gated 40-MDCT coronary angiography scan from 0% to 95% every 5% of the R-R interval.…
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
2020
Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene TMEM43-endemic to Newfoundland, Canada. To date, all familial cases reported worldwide share a common ancestral haplotype. It is unknown whether the p.S358L mutation by itself causes ARVC-5 or whether the disease is influenced by genetic or environmental factors. The purpose of this study was to examine the phenotype, clinical course, and the impact of exercise on patients with p.S358L ARVC-5 without the Newfoundland genetic background. We studied 62 affected individuals and 73 noncarrie…
Selection of optimal prophylactic aminoglycoside dosage in cancer patients: population pharmacokinetic approaches.
1994
We report an alternative dose-finding approach for the selection of optimal prophylactic aminoglycoside dosage in specific (sub)populations of patients. Relative a priori utility of several intervals of gentamicin or tobramycin (AMG) peak and trough serum levels were assigned by a group of pharmacokinetics experts, assuming prophylactic administration for laryngectomy interventions. A group of 27 adult patients, with normal renal function, undergoing elective surgery for laryngeal problems and treated prophylactically with gentamicin (80 mg t.i.d.) or tobramycin (100 mg t.i.d.) was studied. Two blood samples (peak and trough) were drawn at steady-state for AMG assay. Three different methods…
Influence of Patient Selection on the Outcome of Capsule Endoscopy in Patients With Chronic Gastrointestinal Bleeding
2005
Background: In chronic gastrointestinal bleeding, success rates in the range of 48% to 76% have been reported for diagnosing clear bleeding sources using capsule endoscopy. The influence of patient selection on the numbers of positive findings yielded by capsule endoscopy is as yet unclear. Methods: From April 2001 to June 2003, capsule endoscopy was carried out in 74 of a total of 127 patients (58%) who presented for capsule endoscopy with a high suspicion of gastrointestinal bleeding in the small-bowel region. Seventy of the 74 patients were included in the analysis. This group of patients was divided into a study group (32 patients) and a post-study group (38 patients), and the two group…
A Prognostic Enrichment Strategy for Selection of Patients With Acute Respiratory Distress Syndrome in Clinical Trials.
2019
Incomplete or ambiguous evidence for identifying high-risk patients with acute respiratory distress syndrome for enrollment into randomized controlled trials has come at the cost of an unreasonable number of negative trials. We examined a set of selected variables early in acute respiratory distress syndrome to determine accurate prognostic predictors for selecting high-risk patients for randomized controlled trials.A training and testing study using a secondary analysis of data from four prospective, multicenter, observational studies.A network of multidisciplinary ICUs.We studied 1,200 patients with moderate-to-severe acute respiratory distress syndrome managed with lung-protective ventil…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Detection of a new 3-base pair insertion mutation in the protease gene of human immunodeficiency virus type 1 during highly active antiretroviral the…
2005
To investigate a new insertion mutation in the protease (PR) gene of human immunodeficiency virus type 1 (HIV-1) in a patient extensively pretreated with antiretroviral drugs, genotypic analyses of plasma-derived viruses were performed by sequencing segments of 1302 nucleotides in the pol gene of HIV-1. Despite optimal compliance to highly active antiretroviral therapy (HAART) the patient showed poor virological success. Nucleotide sequences of retrospective available plasma samples exhibited a previously unknown 3-bp insertion mutation, corresponding to a leucine, between codons 31 and 32 of the PR gene. This kind of mutation appears to be very rare and it does not seem to be associated wi…