Search results for "C3"
showing 10 items of 1295 documents
Genetic polymorphism of human complement factor I (C3b inactivator) in the Chinese Han population.
1999
The human complement factor I (IF) polymorphism has been analysed by polyacrylamide gel isoelectric focusing electrophoresis of neuraminidase-treated EDTA plasma samples followed by immunoblotting and enzymatic detection. In a population study among 121 random individuals from Chengdu, PR China, three different common phenotypes were observed. The results show that IF is polymorphic in the Chinese population. The allele frequencies were as follows: FI*A = 0.153, FI*B = 0.847. The distribution of observed phenotypes was in accordance with the Hardy-Weinberg equilibrium. In comparison to other Asian population studies, the frequency of the IF*A allele was the highest in the Chinese population…
Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants.
1995
Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could identify the molecular basis of a C3*S025 variant. The decreased electrophoretic mobility of this protein is caused by the exchange of a neutral serine residue to an arginine residue (positively charged). This exchange is unlikely to have functional consequences as it maps to the C-terminus of the alpha-chain. C3 variants appear to have originated from various independent mutat…
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
2010
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42. In this study, we screened 220 independent SPAST mutation-negative ADHSP samples for mutations in the SLC33A1 gene by high-resolution melting curve analysis. Conspicuous samples were validated by direct sequencing. Moreover, copy number variations affecting SLC33A1 were screened by …
The Association between a MAOB Variable Number Tandem Repeat Polymorphism and Cocaine and Opiate Addictions in Polyconsumers
2021
Genetic analysis of the association between alcohol, cocaine, and opiate addiction and variable number tandem repeat (VNTR) polymorphisms in monoamine oxidase B (MAOB) and serotonergic 5-hydroxytryptamine (serotonin) receptor 1B and 2C (HTR1B 21 and HTR2C) pathway genes was performed in a sample of 302 polyconsumers. Our genetic association analysis revealed a significant association between a 184 base pair (bp) VNTR polymorphism in the MAOB gene and addiction to cocaine and opiates. This work highlights new genetic marker associations in cocaine and opiate polyconsumer addictions. These data help to clarify and quantify the complex role of genetics in addictive disorders, as well as their …
Age-Related Changes in Predictive Capacity Versus Internal Model Adaptability: Electrophysiological Evidence that Individual Differences Outweigh Eff…
2015
Hierarchical predictive coding has been identified as a possible unifying principle of brain function, and recent work in cognitive neuroscience has examined how it may be affected by age related changes. Using language comprehension as a test case, the present study aimed to dissociate age-related changes in prediction generation versus internal model adaptation following a prediction error. Event related brain potentials (ERPs) were measured in a group of older adults (60-81 years; n = 40) as they read sentences of the form "The opposite of black is white/yellow/nice." Replicating previous work in young adults, results showed a target related P300 for the expected antonym ("white"; an eff…
Modifiable Lifestyle Factors and Cognitive Function in Older People: A Cross-Sectional Observational Study
2019
Background: The development of evidence-based interventions for delaying or preventing cognitive impairment is an important challenge. Most previous studies using self-report questionnaires face problems with reliability and consistency due to recall bias or misclassification among older people. Therefore, objective measurement of lifestyle components is needed to confirm the relationships between lifestyle factors and cognitive function. Aims: The current study examined the relationship between lifestyle factors collected with wearable sensors and cognitive function among community-dwelling older people using machine learning. Methods: In total, 855 participants (mean age: 73.8 years) wore…
Improvement of gross motor and cognitive abilities by an exercise training program: three case reports
2014
Marianna Alesi,1 Giuseppe Battaglia,2 Michele Roccella,1 Davide Testa,1 Antonio Palma,2 Annamaria Pepi1 1Department of Psychology, 2Department of Law, Social and Sport Science, University of Palermo, Palermo, Italy Background: This work examined the efficacy of an integrated exercise training program (coach and family) in three children with Down syndrome to improve their motor and cognitive abilities, in particular reaction time and working memory. Methods: The integrated exercise training program was used in three children with Down syndrome, comprising two boys (M1, with a chronological age of 10.3 years and a mental age of 4.7 years; M2, with a chronological age of 14.6 years and a ment…
Impact of the COVID-19 lockdown on a long-term care facility: the role of social contact
2021
Background: Long-term care facilities (LTCFs) have been harmed by the coronavirus, and older adults have remained isolated for a long time with many restrictions. The aim of this study was to measure the decline in cognitive, functional, and affective status in a care facility after the lockdown in the first wave of the COVID-19 pandemic and to compare it with previous measures in order to determine if this decline was accelerated. (2) Methods: Ninety-eight participants were recruited. Data from three retrospective pre-lockdown assessments and an additional postlockdown assessment were analyzed. Mixed ANOVA analyses were performed according to the Clinical Dementia Rating levels, considerin…
Regional Brain Volume, Brain Reserve and MMSE Performance in Healthy Aging From the NEUROAGE Cohort: Contributions of Sex, Education, and Depression …
2021
Objective: The aim of this study was twofold. First, to investigate the relationship between age, gray matter (GM), white matter (WM), and cerebrospinal fluid (CSF) volumes, brain reserve (BR), and specific regions of interest (ROIs) with global cognitive function in healthy older adults participating in a longitudinal study on aging in the island country of Cyprus. Second, to assess the contribution of important demographic and psychosocial factors on brain volume. Specifically, the effects of sex and years of education and the association between depression symptoms on brain volume were also explored in this Mediterranean cohort.Methods: Eighty-seven healthy older adults (males = 37, fema…
Health-related quality of life in Colombia: reference values of the EORTC QLQ-C30
2012
There are normative data of the quality of life (QoL) questionnaire EORTC QLQ-C30 (the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire) for several European countries and Korea, but not for Latin America. The aim of this study was to provide these normative values for the general population in Colombia and to assess differences in terms of age and sex. For that reason, a sample of 1500 representatively selected individuals of the Colombian population completed the EORTC QLQ-C30 form. Results showed that mean scores of the Colombian population are similar to those obtained in European countries; whereas the mean values from a Korean study were lower (…