Estimation of the Prevalence and Parental Origin of Chromosomal Microdeletions and Microduplications Affecting the CNTN6 Gene in Patients with Neurodevelopmental Disorders and Healthy Individuals

2021 ◽  
Vol 57 (8) ◽  
pp. 972-977
Author(s):  
M. E. Lopatkina ◽  
S. A. Ivanova ◽  
I. N. Lebedev
Keyword(s):  
Neurodevelopmental Disorders ◽  
Parental Origin ◽  
Healthy Individuals ◽  
Cntn6 Gene

scholarly journals Accelerometric Assessment of Postural Balance in Children: A Systematic Review

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 8 ◽  
Author(s):  
Jose L. García-Soidán ◽  
Raquel Leirós-Rodríguez ◽  
Vicente Romo-Pérez ◽  
Jesús García-Liñeira
Keyword(s):  
Postural Control ◽  
Neurodevelopmental Disorders ◽  
Postural Balance ◽  
Developmental Disorders ◽  
Web Of Science ◽  
Static Balance ◽  
Healthy Children ◽  
Healthy Individuals ◽  
Evaluation Tool ◽  
Systematic Method

The correct development of postural control in children is fundamental to ensure that they fully reach their psychomotor capacities. However, this capacity is one of the least studied in the clinical and academic scope regarding children. The objective of this study was to analyze the degree of implementation of accelerometry as an evaluation technique for postural control in children and how it is being used. Methods: A systematic search was conducted in PubMed, SpringerLink, SportsDiscus, Medline, Scopus, and Web of Science with the following terms: balance, postural control, children, kids, accelerometry, and accelerometer. Results: The search generated a total of 18 articles. Two groups of studies were differentiated: those which exclusively included healthy individuals (n = 5) and those which included children with pathologies (n = 13). Accelerometry is being used in children mainly to assess the gait and static balance, as well as to identify the differences between healthy children and children with developmental disorders. Conclusions: Accelerometry has a discrete degree of implementation as an evaluation tool to assess postural control. It is necessary to define a systematic method for the evaluation of postural control in pediatrics, in order to delve into the development of this capacity and its alterations in different neurodevelopmental disorders.

Neuropsycological gender differences in healthy individuals and in pediatric neurodevelopmental disorders. A role for SNAP-25

2009 ◽  
Vol 73 (6) ◽  
pp. 978-980 ◽  
Author(s):  
Alessandro Ghezzo ◽  
Franca R. Guerini ◽  
Elisabetta Bolognesi ◽  
Michela Matteoli ◽  
Salvatorica Manca ◽  
...  
Keyword(s):  
Gender Differences ◽  
Neurodevelopmental Disorders ◽  
Healthy Individuals

scholarly journals The rate of de novo CNVs in healthy controls

2019 ◽  
Author(s):  
Jacopo Barone ◽  
Mathew Smith ◽  
Kimberley Kendall ◽  
Michael J Owen ◽  
Michael C O’Donovan ◽  
...  
Keyword(s):  
Family Relationships ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Laboratory Method ◽  
Uk Biobank ◽  
Healthy Individuals ◽  
Pathogenic Cnvs ◽  
Number Variation ◽  
High Selection ◽  
The Uk

AbstractBackgroundCopy number variation (CNV) is an important cause for human disease. Due to relatively high selection pressure operating against pathogenic CNVs, their rate is maintained in the population by de novo formation. The rates of de novo CNVs are increased in neurodevelopmental disorders. However only a few studies have been performed on relatively healthy individuals, making it problematic to calculate the magnitude of this increased rate.MethodsThe UK Biobank recruited about half a million randomly selected middle-aged members of the general population of the UK. We re-constructed family relationships from the genotypic data and identified 923 parent-offspring trios that passed out quality control filters. Potential de novo CNVs of >100 kb in size were identified and the log R ratios (LRR) and B allele frequency (BAF) traces of the trio members were visually inspected for those regions. We had no opportunity to validate CNVs with a laboratory method, but the traces appeared conclusive.Results and DiscussionWe identified 10 CNVs >100kb in size, a rate of 1.1%. These rates are very similar to those in previous large studies. Using previous large studies, we provide overall rates among 4844 trios for different size ranges that are expected in relatively healthy populations. These rates can be used for comparison in studies on disease populations.

scholarly journals Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

PLoS Genetics ◽  
2016 ◽  
Vol 12 (5) ◽  
pp. e1005993 ◽  
Author(s):  
Anthony R. Isles ◽  
Andrés Ingason ◽  
Chelsea Lowther ◽  
James Walters ◽  
Micha Gawlick ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Parental Origin

Morphological and elemental analysis of isolated incubated frog retina-choroid

1984 ◽  
Vol 42 ◽  
pp. 298-299
Author(s):  
B. J. Panessa-Warren ◽  
J. B. Warren ◽  
H. W. Kraner
Keyword(s):  
Elemental Analysis ◽  
Pigment Epithelium ◽  
Human Retina ◽  
Healthy Individuals ◽  
Anterior Portion ◽  
Pathological Conditions ◽  
Frog Retina ◽  
Isolated Retina ◽  
Vertebrate Eye ◽  
Retina Pigment Epithelium

Our previous studies have demonstrated that abnormally high amounts of calcium (Ca) and zinc (Zn) can be accumulated in human retina-choroid under pathological conditions and that barium (Ba), which was not detected in the eyes of healthy individuals, is deposited in the retina pigment epithelium (RPE), and to a lesser extent in the sensory retina and iris. In an attempt to understand how these cations can be accumulated in the vertebrate eye, a morphological and microanalytical study of the uptake and loss of specific cations (K, Ca,Ba,Zn) was undertaken with incubated Rana catesbiana isolated retina and RPE preparations. Large frogs (650-800 gms) were dark adapted, guillotined and their eyes enucleated in deep ruby light. The eyes were hemisected behind the ora serrata and the anterior portion of the eye removed. The eyecup was bisected along the plane of the optic disc and the two segments of retina peeled away from the RPE and incubated.

Qualitative and quantitative assessment of nailfold capillaries by capillaroscopy in healthy volunteers

VASA ◽  
2012 ◽  
Vol 41 (1) ◽  
pp. 19-26 ◽  
Author(s):  
Hoerth ◽  
Kundi ◽  
Katzenschlager ◽  
Hirschl
Keyword(s):  
Scoring System ◽  
Morphological Changes ◽  
Connective Tissue Diseases ◽  
Capillary Density ◽  
Diagnostic Value ◽  
Healthy Individuals ◽  
Extreme Position ◽  
Qualitative And Quantitative ◽  
Diffuse Loss ◽  
Density Results

Background: Nailfold capillaroscopy (NVC) is a diagnostic tool particularly useful in the differential diagnosis of rheumatic and connective tissue diseases. Although successfully applied since many years, little is known about prevalence and distribution of NVC changes in healthy individuals. Probands and methods: NVC was performed in 120 individuals (57 men and 63 women; age 18 to 70 years) randomly selected according to predefined age and sex strata. Diseases associated with NVC changes were excluded. The nailfolds of eight fingers were assessed according to standardized procedures. A scoring system was developed based on the distribution of the number of morphologically deviating capillaries, microhaemorrhages, and capillary density. Results: Only 18 individuals (15 %) had no deviation in morphology, haemorrhages, or capillary density on any finger. Overall 67 % had morphological changes, 48 % had microhaemorrhages, and 40 % of volunteers below 40 years of age and 18 % above age 40 had less than 8 capillaries/mm. Among morphological changes tortous (43 %), ramified (47 %), and bushy capillaries (27 %) were the most frequently altered capillary types. A semiquantitative scoring system was developed in such a way that a score above 1 indicates an extreme position (above the 90th percentile) in the distribution of scores among healthy individuals. Conclusions: Altered capillaries occur frequently among healthy individuals and should be interpreted as normal unless a suspicious increase in their frequency is determined by reference to the scoring system. Megacapillaries and diffuse loss of capillaries were not found and seem to be of specific diagnostic value.

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