Search results for "sequence"
showing 10 items of 4987 documents
Ten novel mutations found in Aniridia.
1998
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…
Quantitative myocardial perfusion imaging using different autocalibrated parallel acquisition techniques
2008
Purpose To compare three different autocalibrated parallel acquisition techniques (PAT) for quantitative and semiquantitative myocardial perfusion imaging. Materials and Methods Seven healthy volunteers underwent myocardial first-pass perfusion imaging at rest using an SR-TrueFISP pulse sequence without PAT and while using GRAPPA, mSENSE, and TSENSE. signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), normalized upslopes (NUS), and myocardial blood flow (MBF) were calculated. Artifacts, image noise, and overall image quality were qualitatively assessed. Furthermore, the relation between signal intensity (SI) and contrast medium (CM) concentration was determined in phantoms. Results …
Epigenetic differences arise during the lifetime of monozygotic twins.
2005
Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall…
New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization
2014
The objective of this study was to evaluate the usefulness of comprehensive chromosome screening (CCS) using array comparative genomic hybridization (aCGH). The study included 1420 CCS cycles for recurrent miscarriage (n=203); repetitive implantation failure (n=188); severe male factor (n=116); previous trisomic pregnancy (n=33); and advanced maternal age (n=880). CCS was performed in cycles with fresh oocytes and embryos (n=774); mixed cycles with fresh and vitrified oocytes (n=320); mixed cycles with fresh and vitrified day-2 embryos (n=235); and mixed cycles with fresh and vitrified day-3 embryos (n=91). Day-3 embryo biopsy was performed and analyzed by aCGH followed by day-5 embryo tran…
Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of …
1999
Aims/hypothesis. The aim of this study was to screen part of the putative promoter sequence in addition to 14 potential phosphotyrosine residues of human IRS-2 for genetic variability which might cause changes in protein expression or function. Furthermore, the potential impact on insulin secretion and sensitivity of a previously identified IRS-2 variant (Gly1057Asp) was analysed Methods. The screenings were carried out by the SSCP-heteroduplex technique on DNA from Type II (non-insulin-dependent) diabetic patients. The impact of the Gly1057Asp variant was analysed in four glucose-tolerant Scandinavian study groups. Results. The results showed no nucleotide substitutions in the promoter seq…
Increased sensitivity of the neuronal nicotinic receptor alpha-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
2006
Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep …
Age and Grip Strength Predict Hand Dexterity in Adults.
2015
In the scientific literature, there is much evidence of a relationship between age and dexterity,\ud where increased age is related to slower, less nimble and less smooth, less coordinated\ud and less controlled performances. While some suggest that the relationship is a direct consequence\ud of reduced muscle strength associated to increased age, there is a lack of research\ud that has systematically investigated the relationships between age, strength and\ud hand dexterity. Therefore, the aim of this study was to examine the associations between\ud age, grip strength and dexterity. 107 adults (range 18-93 years) completed a series of hand\ud dexterity tasks (i.e. steadiness, line tracking…
Transmission of Drug-Resistant HIV Type 1 Strains in HAART-Naive Patients: A 5-Year Retrospective Study in Sicily, Italy
2010
The transmission of drug-resistant HIV-1 strains might compromise the efficacy of current first-line antiretroviral (ARV) regimens. Between 2004 and 2008, HIV-1 reverse transcriptase (RT) and protease (PR) genes of 108 ARVnaive Sicilian patients were amplified and sequenced to describe the prevalence of ARV resistance mutations among HAART-naive HIV-1-infected individuals. The frequency of transmitted drug resistance mutations (DRAMs) was determined by using genotypic interpretation algorithms. The proportion of HAART-naive HIV- 1-infected patients in Sicily increased from 18.4% to 23.5% during 2004–2008. Among naive patients, the overall prevalence of DRAMs was 15.7% [17/108; 95% CI: 9.4–2…
HPV DNA in clinically different variants of oral leukoplakia and lichen planus
2004
Abstract Objectives Our objectives were to determine the prevalence of human papillomavirus (HPV) infection in oral leukoplakia (OL) and oral lichen planus (OLP) in comparison with that in healthy oral mucosa, also conditionally to age, gender, smoking, and drinking habits of patients, so as to investigate any possible association of HPV infection with a specific clinical variant of OL or OLP. Study design We did research on HPV DNA in 68 cases of OL (homogeneous form [H] in 45 cases and nonhomogeneous form [non-H] in 23 cases), and in 71 cases of OLP (nonatrophic/erosive form [non-AE] in 27 cases, atrophic/erosive form [AE] in 44 cases). HPV DNA was investigated in exfoliated oral mucosa c…
Polymorphism insertion/deletion of the ACE gene and ambulatory blood pressure circadian variability in essential hypertension
2001
OBJECTIVE The objective of the present study was to analyze the influence of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme on ambulatory blood pressure values and circadian variability in untreated patients with hypertension. MATERIAL AND METHODS Ninety-nine essential hypertensive patients, less than 50 years old (mean age 39.5+/-7.0 years), previously untreated with antihypertensive drugs were included. Twenty-four hour ambulatory blood pressure monitoring (ABPM) was performed with a Spacelabs (90202 and 90207) monitor, during a regular working day in unrestricted ambulatory conditions. The I/D polymorphism of the ACE was determined by PCR. RESULTS The dist…