Search results for "Frame"

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

2010

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

2007

X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

2020

A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

2005

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…

Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

2015

International audience; Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. For the detection of the CALR mutations, three methods were compared in parallel: high-resolution melting-curve analysis (HRM), product-sizing analysis and Sanger sequencing. The sensitivity for the HRM, product-sizing analysis and Sanger sequencing was 96.4%, 98.2% and 89.3% re…

Sprint mechanics evaluation using inertial sensor-based technology: A laboratory validation study.

2018

Advances in micro-electromechanical systems have turned magnetic inertial measurement units (MIMUs) into a suitable tool for vertical jumping biomechanical evaluation. Thus, this study aimed to determine whether appropriate reliability and agreement reports could also be obtained when analyzing 20-m sprint mechanics. Four bouts of 20-m sprints were evaluated to determine whether the data provided by a MIMU placed at the lumbar spine could reliably assess sprint mechanics and to examine the validity of the MIMU sensor compared to force plate recordings. Maximal power (P0), force (F0), and velocity (V0), as well as other mechanical determinants of sprint performance associated with the force-…

Jump Height from Inertial Recordings : A Tutorial for a Sports Scientist

2019

Jump performance provides meaningful information both for sporting and clinical needs. Current state-of-the-art in jump performance assessment is laboratory-bound, however, out-of-the-laboratory methods are desirable. Therefore, the purposes of the present investigation were 1) to explore whether utilising a novel analytical approach minimises the bias between inertial recording unit (IMU)-based and jump mat-based jump height estimates, and 2) to provide a thorough tutorial for a sport scientist (see appendix) to facilitate standardisation of jump height estimation. Forty one women, men and boys aged 6 to 77 years-of-age completed three maximal counter movement jumps without arm swing, whic…

Ethical assessment of hepatitis C virus treatment: The lesson from first generation protease inhibitors

2015

Abstract Since chronic hepatitis C has mostly become curable, issues concerning choice and allocation of treatment are of major concern. We assessed the foremost ethical issues in hepatitis C virus therapy with 1st generation protease inhibitors using the personalist ethical framework within the health technology assessment methodology. Our aim was to identify values at stake/in conflict and to support both the physicians’ choices in hepatitis C therapy and social (macro-) allocation decision-making. The ethical assessment indicates that: (1) safety/effectiveness profile of treatment is guaranteed if its use is restricted to the patients subgroups who may benefit from it; (2) patients shoul…

Gabor frames for classification of paroxysmal and persistent atrial fibrillation episodes

2016

[EN] In this study, we propose a new classification method for early differentiation of paroxysmal and persistent atrial fibrillation episodes, i.e. those which spontaneously or with external intervention will return to sinus rhythm within 7 days of onset from the ones where the arrhythmia is sustained for more than 7 days. Today, clinicians provide patients classification once the course of the arrhythmia has been disclosed. This classification problem is dealt with in this study. We study a sparse representation of surface electrocardiogram signals by means of Gabor frames and afterwards we apply a linear discriminant analysis. Thus, we provide an early discrimination, obtaining promising…

Inertial properties of the arm are accurately predicted during motor imagery

2004

Abstract In the present study, using the mental chronometry paradigm, we examined the hypothesis that during motor imagery the brain uses a forward internal model of arm inertial properties to predict the motion of the arm in different dynamic states. Seven subjects performed overt and covert arm movements with one (motion around the shoulder joint) and two (motion around both the shoulder and elbow joints) degrees of freedom in the horizontal plane. Arm movements were executed under two loading conditions: without and with an added mass (4 kg) attached to the subject’s right wrist. Additionally, movements were performed in two different directions, condition which implies changes in the ar…