Objective: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examination. This study aimed to translate into Brazilian Portuguese and culturally adapt the clinical signs described in the Autism Dysmorphology Measure, as well as validate the instrument in a sample of children with autism.
Methods: The original instrument was translated, culturally adapted, and published in full, following traditional procedures for translation, back-translation, and terminology adaptation according to the Nomina Anatomica. The sample included 62 children from a published multicenter study, with intelligence quotient between 50-69, of both genders, with chronological age between 3-6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. We used Cohen's Kappa coefficient to evaluate the agreement between the two observers.
Results: The final version of the instrument - translated into Brazilian Portuguese and culturally adapted - showed high agreement between the two observers.
Conclusions: The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.
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http://dx.doi.org/10.1590/1984-0462/2020/38/2018318 | DOI Listing |
Sci Rep
January 2025
Environmental Geochemistry group, Department of Geosciences and Geography, University of Helsinki, Helsinki, Finland.
The two-stage channel (TSC) design with a vegetated man-made floodplain has been recommended as an alternative to conventional re-dredging for managing suspended sediment (SS) and nutrient loads in agricultural streams. However, there are currently uncertainties surrounding the efficiency of TSCs, since mass balances covering the whole annual hydrograph and including different periods of the channel life cycle are lacking. This paper aims to improve understanding of the medium-term morphological development and sedimentary nutrient retention when a dredged, trapezoidal-shaped channel is converted into a TSC, using a mass balance estimate of nutrient and carbon retention from immediately after excavation until the establishment of approximate biogeochemical equilibrium retention.
View Article and Find Full Text PDFNat Commun
January 2025
Inorganic Chemistry and Catalysis, Debye Institute for Nanomaterials Science and Institute for Sustainable and Circular Chemistry, Faculty of Science, Utrecht University, Utrecht, The Netherlands.
Electrochemical reduction of carbon dioxide (CO) into sustainable fuels and base chemicals requires precise control over and understanding of activity, selectivity and stability descriptors of the electrocatalyst under operation. Identification of the active phase under working conditions, but also deactivation factors after prolonged operation, are of the utmost importance to further improve electrocatalysts for electrochemical CO conversion. Here, we present a multiscale in situ investigation of activation and deactivation pathways of oxide-derived copper electrocatalysts under CO reduction conditions.
View Article and Find Full Text PDFJ Forensic Odontostomatol
December 2024
Laboratory of Personal Identification and Forensic Morphology, Department of Health Sciences, University of Florence, Florence, Italy.
The age estimation of skeletal remains still represents a central issue not only for the reconstruction of the so-called "biological profile," but mostly for the palaeodemographic investigation. This research aims at verifying the feasibility of the adult age estimation method developed on living people by Pinchi et al. (2015 and 2018), for estimating the age at the death of 37 subjects from ancient populations found in two different Italian necropolis of archaeological interest (Mont'e Prama and Florence, X-IX century B.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Buenos Aires, Buenos Aires, Argentina.
Background: Alzheimer's disease is characterized by the accumulation of aggregated amyloid peptides in the brain parenchyma and in the walls of brain vessels. The hippocampus - a complex brain structure that plays a key role in learning and memory - has been implicated in the disease. However, there is limited data on vascular changes during the pathological degeneration of Alzheimer's disease in this vulnerable structure, which has distinctive vascular features.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Michigan State University, East Lansing, MI, USA.
Background: Abnormal phosphorylation of tau is key to Alzheimer's disease progression. The details of cellular dysfunction or death caused by hyperphosphorylated tau remain unclear. It is crucial to understand the mechanism for drug design.
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