Search results for " algorithm"

Prevalence of acquired resistance mutations in a large cohort of perinatally infected HIV-1 patients

2019

Association between the HFE mutations and longevity: a study in Sardinian population

2003

Hereditary hemochromatosis is an HLA-linked inherited disease characterised by inappropriately high absorption of iron by the gastrointestinal mucosa. The cysteine-to-tyrosine substitution at codon 282 of the HFE encoding gene sequence is responsible for the disease, although other variants, as H63D and S65C, may modify the affinity of the protein for transferrin receptors. We have recently reported that C282Y mutation is significantly increased in very old (>90 years) Sicilian women, suggesting a role in attainment of longevity. In addition, an increase of H63D polymorphism was also observed in these women but the difference was not significant. To validate and extend these results we inve…

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome

2005

Introduction: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3β-hydroxysterol Δ7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20 000–60 000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis. Method: We analyzed by direct sequencing the 7-dehydrocholesterol…

Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2021

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be re…

Biochemical selection of prepubertal patients with androgen insensitivity syndrome by sex hormone-binding globulin response to the human chorionic go…

1997

Before puberty, the diagnosis of androgen insensitivity syndrome (AIS) can be difficult. We studied whether the decrease of sex hormone-binding globulin (SHBG) during the human chorionic gonadotropin (hCG) test may represent a biochemical test to select prepubertal patients with AIS. We examined prepubertal patients with AIS (n = 9, age 0.9-8.2 y), male pseudohermaphroditism not due to AIS (other-MPH) (n = 8, age 0.6-10.7 y), and control boys (n = 12, age 0.8-12.5 y). Testosterone and SHBG levels (mean +/- SD) were measured before (d 0) and after (d 5) a hCG test (1500 IU X 3 d). Testosterone levels (nmol/L) increased in all groups [AIS: from 1.5 +/- 1.2 to 22.1 +/- 11.8 (p0.001); other-MPH…

Rules-based HIV-1 genotypic resistance interpretation systems predict 8 week and 24 week virological antiretroviral treatment outcome and benefit fro…

2009

Objectives: To test retrospectively the ability of four freely available rules-based expert systems to predict short- and medium-term virological outcome following an antiretroviral treatment switch in pre-treated HIV-1 patients. Methods: The HIV-1 genotype interpretation systems (GISs) HIVdb, ANRS, Rega and AntiRetroScan were tested for their accuracy in predicting response to highly active antiretroviral therapy using 8 week (n = 765) and 24 week (n = 634) follow-up standardized treatment change episodes extracted from the Italian Antiretroviral Resistance Cohort Analysis (ARCA) database. A genotypic sensitivity score (GSS) was derived for each genotype-treatment pair for the different GI…

Founder-effect speciation theory: Failure of experimental corroboration

1995

The theory of founder-effect speciation proposes that colonization by very few individuals of an empty habitat favors rapid genetic changes and the evolution of a new species. We report here the results obtained in a 10-year-long and large-scale experiment with Drosophila pseudoobscura designed to test the theory. In our experimental protocol, populations are established with variable numbers of very few individuals and allowed to expand greatly for several generations until conditions of severe competition for resources are reached and the population crashes. A few random survivors are then taken to start a new population expansion and thus initiate a new cycle of founding events, populati…

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

2009

Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.

Weighted Least-Squares Likelihood Ratio Test for Branch Testing in Phylogenies Reconstructed from Distance Measures

2005

A variety of analytical methods is available for branch testing in distance-based phylogenies. However, these methods are rarely used, possibly because the estimation of some of their statistics, especially the covariances, is not always feasible. We show that these difficulties can be overcome if some simplifying assumptions are made, namely distance independence. The weighted least-squares likelihood ratio test (WLS-LRT) we propose is easy to perform, using only the distances and some of their associated variances. If no variances are known, the use of the Felsenstein F-test, also based on weighted least squares, is discussed. Using simulated data and a data set of 43 mammalian mitochondr…

Different Hydraulic Constructs to Optimize the Venous Drainage of DIEP Flaps in Breast Reconstruction: Decisional Algorithm and Review of the Literat…

2020

 Venous congestion is the most common perfusion-related complication of deep inferior epigastric artery perforator (DIEP) flap. Several hydraulic constructs can be created for venous superdrainage in case of flap venous engorgement or as a preventive measure. These can be classified based on the choice of the draining vein of the flap, either a second deep inferior epigastric vein (DIEV) or a superficial inferior epigastric vein (SIEV), and of the recipient vein, either a vein of the chest or the DIEV. Background Venous congestion is the most common perfusion-related complication of deep inferior epigastric artery perforator (DIEP) flap. Several hydraulic constructs can be created for venou…