Search results for "onset."
showing 10 items of 478 documents
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
2021
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cogni…
Fungal Dysbiosis and Intestinal Inflammation in Children With Beta-Cell Autoimmunity
2020
Although gut bacterial dysbiosis is recognized as a regulator of beta-cell autoimmunity, no data is available on fungal dysbiosis in the children at the risk of type 1 diabetes (T1D). We hypothesized that the co-occurrence of fungal and bacterial dysbiosis contributes to the intestinal inflammation and autoimmune destruction of insulin-producing beta-cells in T1D. Fecal and blood samples were collected from 26 children tested positive for at least one diabetes-associated autoantibody (IAA, GADA, IA-2A or ICA) and matched autoantibody-negative children with HLA-conferred susceptibility to T1D (matched for HLA-DQB1 haplotype, age, gender and early childhood nutrition). Bacterial 16S and funga…
DNA Methylation Analysis to Unravel Altered Genetic Pathways Underlying Early Onset and Late Onset Neonatal Sepsis. A Pilot Study
2021
Background: Neonatal sepsis is a systemic condition widely affecting preterm infants and characterized by pro-inflammatory and anti-inflammatory responses. However, its pathophysiology is not yet fully understood. Epigenetics regulates the immune system, and its alteration leads to the impaired immune response underlying sepsis. DNA methylation may contribute to sepsis-induced immunosuppression which, if persistent, will cause long-term adverse effects in neonates.Objective: To analyze the methylome of preterm infants in order to determine whether there are DNA methylation marks that may shed light on the pathophysiology of neonatal sepsis.Design: Prospective observational cohort study perf…
Mild cognitive impairment in Parkinson’s disease: the Parkinson’s disease cognitive study (PACOS)
2018
Approximately 30% of Parkinson's disease (PD) patients show impaired cognitive performance, which is suggestive of Mild Cognitive Impairment (MCI), representing a predictor of dementia, especially when present at diagnosis. The objective of the study was to evaluate the frequency and clinical predictors of MCI in a large hospital-based cohort of PD patients. We collected cross-sectional data from the Parkinson's disease cognitive impairment study (PACOS), a multicenter study involving two Movement Disorder centers, which are located in south Italy. The PD subjects were diagnosed according to the UK Brain Bank criteria and they underwent an extensive neuropsychological assessment. PD-MCI was…
The titanium-made growth-guidance technique for early-onset scoliosis at minimum 2-year follow-up: A prospective multicenter study.
2019
Background The management of early-onset scoliosis (EOS) remains a serious challenge in pediatric orthopedics. The growth-guidance system (GGS) is a surgical option that allows continuous growth along a rod, averting the need for repeated operative lengthening. Objectives The objective of this study was to evaluate the outcomes of the GGS in the treatment of EOS. Material and methods A prospective study, including 81 patients from 4 departments treated with this method from 2013 to 2015, was conducted with a minimum follow-up period of 24 months. The follow-up data of 57 patients was available, thus the drop-out rate was 29.63%. There were 44 girls with a mean age of 10.03 years and 13 boys…
Prospective associations of early-onset Axis I disorders with developing eating disorders
2009
Objective: The purpose of this study is to analyze the developmental relationships of adolescent-onset Axis I mental disorders and eating disorders (EDs).Method: One thousand three hundred eighteen adolescent twins born from 1983 to 1987 completed a professionally administered semistructured psychiatric interview at the age of 14 years and a questionnaire follow-up at the age of 17.5 years.Results: Eating disorders at the age of 17.5 years were significantly predicted by major depressive disorder (odds ratio, 5.9; 95% confidence interval, 2.6-15.3) and generalized anxiety disorder (GAD) (odds ratio, 4.7; 95% confidence interval, 1.8-15.6) at the age of 14 years, when baseline EDs were exclu…
Are There Lower Repetition Priming Effects in Children with Developmental Dyslexia? Priming Effects in Spanish with the Masked Lexical Decision Task.
2016
The aim of this study was to compare the reaction times and errors of Spanish children with developmental dyslexia to the reaction times and errors of readers without dyslexia on a masked lexical decision task with identity or repetition priming. A priming paradigm was used to study the role of the lexical deficit in dyslexic children, manipulating the frequency and length of the words, with a short Stimulus Onset Asynchrony (SOA = 150 ms) and degraded stimuli. The sample consisted of 80 participants from 9 to 14 years old, divided equally into a group with a developmental dyslexia diagnosis and a control group without dyslexia. Results show that identity priming is higher in control childr…
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consorti…
2018
Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with i…
Physical multimorbidity predicts the onset and persistence of anxiety: A prospective analysis of the Irish Longitudinal Study on Ageing.
2022
Background: The aims of the present study were to examine prospective associations of multimorbidity (i.e., >= 2 chronic conditions) at baseline with incident and persistent anxiety over a two-year follow-up period among Irish older adults, and to quantify the extent to which sleep, pain, and disability mediate the multimorbidity-anxiety relationship.& nbsp;Methods: Data from The Irish Longitudinal Study on Aging (TILDA) conducted between 2009 and 2011 with a follow-up after two years were analyzed. Anxiety referred to score >=& nbsp;8 on the anxiety section of the Hospital Anxiety and Depression Scale. Lifetime diagnosis of 14 chronic conditions was obtained. Outcomes were in…
Does tinnitus distress depend on age of onset?
2011
Objectives: Tinnitus is the perception of a sound in the absence of any physical source of it. About 5–15% of the population report hearing such a tinnitus and about 1–2% suffer from their tinnitus leading to anxiety, sleep disorders or depression. It is currently not completely understood why some people feel distressed by their tinnitus, while others don’t. Several studiesindicate that the amount of tinnitus distress is associated with many factors including comorbid anxiety, comorbid depression, personality, the psychosocial situation, the amount of the related hearing loss and the loudness of the tinnitus.Furthermore, theoretical considerations suggest an impact of the age at tinnitus o…