Search results for "Recess"
showing 10 items of 379 documents
Quasi-parallel precession diffraction: Alignment method for scanning transmission electron microscopes.
2018
Abstract A general method to set illuminating conditions for selectable beam convergence and probe size is presented in this work for Transmission Electron Microscopes (TEM) fitted with µs/pixel fast beam scanning control, (S)TEM, and an annular dark field detector. The case of interest of beam convergence and probe size, which enables diffraction pattern indexation, is then used as a starting point in this work to add 100 Hz precession to the beam while imaging the specimen at a fast rate and keeping the projector system in diffraction mode. The described systematic alignment method for the adjustment of beam precession on the specimen plane while scanning at fast rates is mainly based on …
Systematic and statistical uncertainties of the hilbert-transform based high-precision FID frequency extraction method.
2021
Abstract Pulsed nuclear magnetic resonance (NMR) is widely used in high-precision magnetic field measurements. The absolute value of the magnetic field is determined from the precession frequency of nuclear magnetic moments. The Hilbert transform is one of the methods that have been used to extract the phase function from the observed free induction decay (FID) signal and then its frequency. In this paper, a detailed implementation of a Hilbert-transform based FID frequency extraction method is described, and it is briefly compared with other commonly used frequency extraction methods. How artifacts and noise level in the FID signal affect the extracted phase function are derived analytical…
Insolation cycles as a major control equatorial Indian Ocean primary production
1997
Analysis of a continuous sedimentary record taken in the Maldives indicates that strong primary production fluctuations (70 to 390 grams of carbon per square meter per year) have occurred in the equatorial Indian Ocean during the past 910,000 years. The record of primary production is coherent and in phase with the February equatorial insolation, whereas it shows diverse phase behavior with δ 18 O, depending on the orbital frequency (eccentricity, obliquity, or precession) examined. These observations imply a direct control of productivity in the equatorial oceanic system by insolation. In the equatorial Indian Ocean, productivity is driven by the wind intensity of westerlies, which is rel…
Autosomal recessive hypercholesterolemia in Spain.
2017
Abstract Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel muta…
Surgical treatment of localized gingival recessions using coronally advanced flaps with or without subepithelial connective tissue graft.
2015
Background A coronally advanced flap with subepithelial connective tissue graft is the gold standard surgical treatment of gingival recessions, since it offers a higher probability of achieving complete root coverage compared with other techniques. However, optimum short- and middle-term clinical results have also been obtained with coronally advanced flaps alone. The aim of the present study was to evaluate the results obtained by the surgical treatment of localized gingival recessions using coronally advanced flaps with or without subepithelial connective tissue graft. Material and Methods The reduction of recession height was assessed, together with the gain in gingival attachment apical…
Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study
2017
Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020
International audience; Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromo…
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
2019
Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic At…
2016
International audience; Early-onset epileptic encephalopathy (EOEE) represents a heterogeneous group of severe disorders characterized by seizures, interictal epileptiform activity with a disorganized electroencephalography background, developmental regression or retardation, and onset before 1 year of age. Among a cohort of 57 individuals with epileptic encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-exome sequencing. The targeted sequencing of AP3B2 in 86 unrelated individuals with EOEE led to the identification of an additional family. We gathered five addition…