Search results for "diagnosis."
showing 10 items of 2167 documents
Loop Mediated Isothermal Amplification: Principles and Applications in Plant Virology
2020
In the last decades, the evolution of molecular diagnosis methods has generated different advanced tools, like loop-mediated isothermal amplification (LAMP). Currently, it is a well-established technique, applied in different fields, such as the medicine, agriculture, and food industries, owing to its simplicity, specificity, rapidity, and low-cost efforts. LAMP is a nucleic acid amplification under isothermal conditions, which is highly compatible with point-of-care (POC) analysis and has the potential to improve the diagnosis in plant protection. The great advantages of LAMP have led to several upgrades in order to implement the technique. In this review, the authors provide an overview r…
Sulawesifulvius thailandicus – a new species of the genus Sulawesifulvius Gorczyca, Chérot & Štys from Thailand (Hemiptera, Heteroptera, Miridae, Cyl…
2017
Abstract A new species of the genus Sulawesifulvius, Sulawesifulvius thailandicus Wolski, Yasunaga & Gorczyca, sp. n., is described from Thailand. The present finding also represents the first distribution record in Indochina for the genus. Color adult habitus images for Sulawesifulvius thailandicus and Sulawesifulvius schuhi (type species of the genus), male genital drawings of Sulawesifulvius thailandicus, and scanning electron micrographs of selected structures of Sulawesifulvius schuhi and Sulawesifulvius thailandicus are provided.
Taxonomic review of the plant bug genera Amapacylapus and Cylapus with descriptions of two new species and a key to the genera of Cylapini (Hemiptera…
2017
The plant bug tribe Cylapini (Hemiptera: Heteroptera: Miridae: Cylapinae) is diagnosed and a worldwide key to the genera of the tribe is provided. The taxonomic review of the New World Cylapini genera Amapacylapus Carvalho & Fontes,1968 and Cylapus Say, 1832 is provided, including a key to species, diagnoses and redescriptions of genera and most included species, and descriptions of two new species, Amapacylapus unicolor sp. nov. (Ecuador) and Cylapus luridus sp. nov. (Brazil). Illustrations of the male genitalia, color photographs of the adult and scanning electron micrographs of the selected species are provided. The genus Cylapocerus Carvalho & Fontes, 1968 syn. nov. is proposed …
Taxonomic review of the bifenestratus species group of the genus Fulvius Stål with descriptions of two new species (Hemiptera, Heteroptera, Miridae, …
2018
Two new species of the genus Fulvius Stål are described from the Philippines and Papua New Guinea. A taxonomic review of representatives of the F.bifenestratus species group, illustrations of the male genitalia, a color habitus image of each species, and a key to species of the group are provided.
Accelerated bearing life-Time test rig development for low speed data acquisition
2017
Condition monitoring plays an important role in rotating machinery to ensure reliability of the equipment, and to detect fault conditions at an early stage. Although health monitoring methodologies have been thoroughly developed for rotating machinery, low-speed conditions often pose a challenge due to the low signal-to-noise ratio. To this aim, sophisticated algorithms that reduce noise and highlight the bearing faults are necessary to accurately diagnose machines undergoing this condition. In the development phase, sensor data from a healthy and damaged bearing rotating at low-speed is required to verify the performance of such algorithms. A test rig for performing accelerated life-time t…
Exposure to a Highly Caloric Palatable Diet During Pregestational and Gestational Periods Affects Hypothalamic and Hippocampal Endocannabinoid Levels…
2016
Journal Article; Exposure to unbalanced diets during pre-gestational and gestational periods may result in long-term alterations in metabolism and behavior. The contribution of the endocannabinoid system to these long-term adaptive responses is unknown. In the present study, we investigated the impact of female rat exposure to a hypercaloric-hypoproteic palatable diet during pre-gestational, gestational and lactational periods on the development of male offspring. In addition, the hypothalamic and hippocampal endocannabinoid contents at birth and the behavioral performance in adulthood were investigated. Exposure to a palatable diet resulted in low weight offspring who exhibited low hypotha…
Type of chromosome abnormality affects embryo morphology dynamics.
2016
Objective To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. Design Retrospective cohort study. Setting University affiliated private center. Patient(s) Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage. A total of 485 embryos were analyzed. Intervention(s) None. Main Outcome Measure(s) All biopsied embryos were cultured in an incubator with time-lapse technology, cleavage timing from insemination to day 3 and all kinetic parameters that have been de…
What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs
2020
Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
2017
IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to impr…
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
2017
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed ultradeep next-generation sequencing (NGS) of PIK3CA in various tissues from 162 patients referred to our clinical laboratory and assessed diagnostic yield by phenotype and tissue tested. We identified disease-causing mutations in 66.7% (108/162) of patients, with mutant allele levels as low as 1%. The diagnostic rate was higher (74%) in syndromic than in isolated cases (35.5%; P = 9.03 × 10−5). We identified 40 different mutations and found stro…