Search results for "Normal"
showing 10 items of 2571 documents
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…
Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy
2020
Myotonic dystrophy type 1 (DM1) is a chronically debilitating, rare genetic disease that originates from an expansion of a noncoding CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. The expansion becomes pathogenic when DMPK transcripts contain 50 or more repetitions due to the sequestration of the muscleblind-like (MBNL) family of proteins. Depletion of MBNLs causes alterations in splicing patterns in transcripts that contribute to clinical symptoms such as myotonia and muscle weakness and wasting. We previously found that microRNA (miR)-23b directly regulates MBNL1 in DM1 myoblasts and mice and that antisense technology (“antagomiRs”) blocking this microRNA (miRNA) boost…
The MID1 protein is a central player during development and in disease.
2015
Loss-of-function mutations in the MID1 gene cause a rare monogenic disorder, Opitz BBB/G syndrome (OS), which is characterized by malformations of the ventral midline. The MID1 gene encodes the MID1 protein, which assembles a large microtubule-associated protein complex. Intensive research over the past several years has shed light on the function of the MID1 protein as a ubiquitin ligase and regulator of mTOR signalling and translational activator. As a central player in the cell MID1 has been implicated in the pathogenesis of various other disorders in addition to OS including cancer and neurodegenerative diseases. Influencing the activity of the MID1 protein complex is a promising new st…
Mass, phylogeny, and temperature are sufficient to explain differences in metabolic scaling across mammalian orders?
2016
Abstract Whether basal metabolic rate‐body mass scaling relationships have a single exponent is highly discussed, and also the correct statistical model to establish relationships. Here, we aimed (1) to identify statistically best scaling models for 17 mammalian orders, Marsupialia, Eutheria and all mammals, and (2) thereby to prove whether correcting for differences in species’ body temperature and their shared evolutionary history improves models and their biological interpretability. We used the large dataset from Sieg et al. (The American Naturalist 174, 2009, 720) providing species’ body mass (BM), basal metabolic rate (BMR) and body temperature (T). We applied different statistical ap…
Normal values for fundus perimetry with the MAIA microperimeter and short-term repeatability evaluation
2016
National audience; Purpose To assess retinal sensitivity by means of microperimetry and to evaluate the intersession fluctuation using the MAIA microperimeter in healthy volunteers. Methods Prospective, monocentre study. Fifty‐six healthy volunteers (age range, 20–80 years), underwent an automatic, full‐threshold microperimetry of the central field (custom grid, area of 10° in diameter, 37 stimulated points), with the MAIA microperimeter (CenterVue, Padova, Italy). A subgroup of 24 subjects was retested after 1 h (test 2) and 1 week (test 3) to determine the repeatability of the technique. A subgroup of 22 subjects was also tested on the OPKO microperimeter (Optos, Dunfermline, Scotland) (a…
Spanish Validation of the Polymorphous Prejudice Scale in a Sample of University Students
2016
ABSTRACTThe shortened version of the Polymorphous Prejudice Scale (PPS) analyzes new manifestations of prejudice toward gay men and lesbian women. Specifically, this instrument consists of 16 items distributed in four subscales: values gay progress, positive beliefs about gay men, positive beliefs about lesbian women, and resistance to heteronormative expectations. The aim of the current study is to add new evidence about the reliability and validity of the scale. The scale is administrated to 348 heterosexual university students from Spain with a mean age of 22.62 years (SD = 7.63). Reliability and factorial validity estimates are presented. A four-factor structure is supported using confi…
[Management of patients with lymphatic diseases and lipoedema during the COVID-19 pandemic. Recommendations of the Spanish Group of Lymphology].
2020
Resumen La pandemia de COVID-19 es un desafío para el manejo de las patologías no COVID como la enfermedad linfática y el lipedema. La Telemedicina puede evitar la propagación del coronavirus. Se necesita un sistema que nos ayude a determinar la prioridad clínica y la selección de la asistencia presencial o telemática para cada paciente y la forma de realizarlas durante la pandemia. El Grupo Español de Linfología (GEL) ha realizado un documento de consenso con recomendaciones basadas en la bibliografía y experiencia clínica, como guía de práctica clínica en el manejo de anomalías linfáticas y lipedema durante la pandemia de COVID-19. Estas recomendaciones deben adaptarse a las característic…
Caring through Discipline? Analyzing House Rules in Community Mental Health Services in Norway
2016
In Scandinavian countries, public housing and recreation programs for people suffering from mental health or substance abuse problems emphasize normalization of life and participation in a normal social life. The theoretical approach taken by community health care services has been de-institutionalization. To study if and how this movement from patient to fully participating citizen was reflected in these new institutions, written house rules in sheltered housing and day centers for adults were collected and analyzed by content analysis. The findings show that the formal language represents the voice of professionals, while the content pertained to regulation of the service user’s daily lif…
Evaluation of geomorphometric characteristics and soil properties after a wildfire using Sentinel-2 MSI imagery for future fire-safe forest
2021
Abstract Understanding spatiotemporal geomorphological and pedological changes as a consequence of wildfires can allow stakeholders, land planners, and policymakers to design efficient fire safety-based afforestation and restoration programs of forest lands. The use of remote sensing techniques is a key tool to achieve this goal. The suitable combination of Sentinel-2 MSI data for mapping of different spectral indices related to burn severity and their relationship with other morphometric and soil properties can contribute to a better understanding of the impact of fire, and this is relevant in regions where is still scarce fire-related research such as Turkey. In this investigation, the us…
The Appearance Intrusions Questionnaire
2019
Abstract. This study aims to examine whether Body Dysmorphic Disorder (BDD) related preoccupations might consist of unwanted intrusive cognitions, and if so, their degree of universality, its dimensionality from normality to BDD psychopathology, and their associations with symptom measures. The Appearance Intrusions Questionnaire (AIQ) was designed to assess intrusive thoughts related to appearance defects (AITs). A sample of 410 undergraduate university students completed a former 54-item version of the AIQ. Principal Components Analyses (PCA) and Parallel Analysis yielded a five-factor structure and a reduction to 27 items. The 27-items AIQ was examined in a new sample of 583 non-clinica…