Search results for "GUI"

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

2017

Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 died in utero of unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s) causing these phenotypes using next generation sequencing (NGS) technology. Targeted exome sequencing identified a heterozygous duplication in CSRP1 which leads to a potential frameshift mutation at position 154 of the protein. This mutation is inherited from the father, and segregates only with the CHD phen…

A mismatch between athlete practice and current sports nutrition guidelines among elite female and male middle- and long-distance athletes

2017

Contemporary nutrition guidelines promote a variety of periodized and time-sensitive recommendations, but current information regarding the knowledge and practice of these strategies among world-class athletes is limited. The aim of this study was to investigate this theme by implementing a questionnaire on dietary periodization practices in national/international level female (n = 27) and male (n = 21) middle- and long-distance runners/race-walkers. The questionnaire aimed to gain information on between and within-day dietary choices, as well as timing of pre- and posttraining meals and practices of training with low or high carbohydrate (CHO) availability. Data are shown as percentage (%)…

The prevalence of malnutrition according to the new ESPEN definition in four diverse populations

2016

© 2015 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism.Background & aims: Consensus on the definition of malnutrition has not yet been reached. Recently, The European Society for Clinical Nutrition and Metabolism (ESPEN) proposed a consensus definition of malnutrition. The aim of the present study was to describe the prevalence of malnutrition according to the ESPEN definition in four diverse populations. Methods: In total, 349 acutely ill middle-aged patients, 135 geriatric outpatients, 306 healthy old individuals and 179 healthy young individuals were included in the study. Subjects were screened for risk of malnutrition using the SNAQ. The ESPEN definition of maln…

Role of mucosal immune response and histopathological study in European eel (Anguilla anguilla L.) intraperitoneal challenged by Vibrio anguillarum o…

2021

Abstract The external mucus layer that covers fish skin contains numerous immune substances scarcely studied that act as the first line of defence against a broad spectrum of pathogens. This study aimed to characterize and describe for the first time several humoral immune defence parameters in the skin mucus of the European eel (Anguilla anguilla) after intraperitoneal injection with Vibrio anguillarum or Tenacibaculum soleae. This study evaluated several immune-related enzymes and bactericidal activity against fish pathogenic bacteria in the skin mucus of European eels at 24, 48, and 72 h post-challenge. The results demonstrated that European eel skin mucus showed significant increments i…

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

2017

Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests…

Between reality and the guidelines: A survey on perception, diagnosis and management of hepatic encephalopathy in 201 Italian specialist centres

2017

Searching events in AFM force-extension curves: A wavelet approach

2016

An algorithm, based on the wavelet scalogram energy, for automatically detecting events in force-extension AFM force spectroscopy experiments is introduced. The events to be detected are characterized by a discontinuity in the signal. It is shown how the wavelet scalogram energy has different decay rates at different points depending on the degree of regularity of the signal, showing faster decay rates at regular points and slower rates at singular points (jumps). It is shown that these differences produce peaks in the scalogram energy plot at the event points. Finally, the algorithm is illustrated in a tether analysis experiment by using it for the detection of events in the AFM force-exte…

Endoscopic near infrared and indocyanine green to verify the viability of the subcutaneous flap for vulvar cancer.

2019

Abstract Introduction Vulvar cancer often requires radical vulvectomy with subsequent vulvar flap. Approximately in 20–60% of cases, there are post-operative complications ranging from infection to flap necrosis that often require reoperation. Several methods have been described to verify the vitality of the flap, but these are often expensive and require specific machinery that is not generally present in a gynecological clinic. In this case report, we present a viability verification of V Y fasciocutaneous advancement flap for vulvar reconstruction by Endoscopic Near-Infrared and Indocyanine Green. Methodology The patient was a 67-year-old woman with FIGO IB ≤ 4 cm squamous cell vulvar ca…

Exploring the neural correlates of the reversed letter effect: Evidence from left and right parietal patients.

2019

To investigate the hemispheric lateralization of attentional processes during visual search tasks depending on the stimulus material embedding the target, twelve patients with unilateral left (n = 7) or right (n = 5) parietal lesions and 20 age and education matched healthy controls (HC) were recruited. We used a visual search task for a uniquely tilted oblique bar embedded in an object shape 'N' or in its mirror reversal 'И'. The accuracy and the averaged reaction times (RTs) in each stimulus type ('N' or 'И') were analysed.\ud \ud HC presented significantly longer RTs when the target bar was embedded in 'N' among its mirror reversed 'И' (p < .05). This “reversed letter effect” was also…

Dynamic longitudinal behavior in animals exposed to chronic social defeat stress

2020

AbstractChronic social defeat (CSD) can lead to impairments in social interaction and other behaviors that are supposed to model features of major depressive disorder (MDD). Not all animals subjected to CSD, however, develop these impairments, and maintained social interaction in some animals is widely used as a model for resilience to stress-induced mental dysfunctions. So far, animals have mainly been studied shortly (24 hours and 7 days) after CSD exposure and longitudinal development of behavioral phenotypes in individual animals has been mostly neglected. We have analyzed social interaction and novel object recognition behavior of stressed mice at different time points after CSD and ha…