Search results for " correlation"
showing 10 items of 1380 documents
Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease
2008
Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype. Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which r…
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
2012
Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any sig…
Hemorragic presentation of Listeria Monocytogenes rhombencephalic abscess.
2020
Listeria monocytogenes (LM) bacterium is a cause of central nervous system (CNS) infection and the most common cause of rhombencephalitis in immunocompetent elderly. A prompt identification of this condition should be always desirable, since its clinical manifestations are often unspecific with prodromal symptoms leading to high rates of morbidity and mortality if underestimated. CNS listeriosis magnetic resonance imaging (MRI) findings are generally not specific. However, in the appropriate clinical setting, focal brainstem hyperintensity on T2-weighted pulse sequences associated with ring-enhancement pattern after i.v. contrast media injection should be suspicious of LM abscess. The diagn…
Validation of two portable bioelectrical impedance analyses for the assessment of body composition in school age children
2017
Background Bioelectrical impedance analysis (BIA) is a convenient and child-friendly method for longitudinal analysis of changes in body composition. However, most validation studies of BIA have been performed on adult Caucasians. The present cross-sectional study investigated the validity of two portable BIA devices, the Inbody 230 (BIA8MF) and the Tanita BC-418 (BIA8SF), in healthy Taiwanese children. Methods Children aged 7–12 years (72 boys and 78 girls) were recruited. Body composition was measured by the BIA8SF and the BIA8MF. Dual X-ray absorptiometry (DXA) was used as the reference method. Results There were strong linear correlations in body composition measurements between the BIA…
The web-based ASSO-food frequency questionnaire for adolescents: relative and absolute reproducibility assessment
2014
Background A new food frequency questionnaire (FFQ) has been recently developed within the Italian Adolescents and Surveillance System for the Obesity prevention (ASSO) Project; it was found to be appropriate for ranking adolescents in food and nutrient levels of intake. The aim of this study was to assess the relative and absolute reproducibility of the ASSO-FFQ for 24 food groups, energy and 52 nutrients. Methods A test-retest study was performed on two ASSO-FFQs administered one month apart of each other to 185 adolescents, aged 14–17 and attending secondary schools in Palermo (Italy). Wilcoxon test assessed differences in median daily intakes between the two FFQs. Agreement was evaluate…
Analysis of the peri-implant microbiota in 90 dental implants and its relationship to crevicular fluid volume
2010
Objective: To evaluate the presence within the peri-implant sulcus of Tannerela forsythia (Tf), Porphyromonas gingivales (Pg), Treponema denticola (Td) and Aggregatibacter actinomycetemcomitans (Aa), and relate these bacteria to the peri-implant crevicular fluid volume (PICFV). Material and Method: A prospective and cross-sectional clinical case series study was made. For the measurement of crevicular fluid, use was made of the Periotron ® 8000 (Proflow Incorporated. New York, USA), measuring the volume in Periotron units (PU). For the detection of periodontopathogenic bacteria we used the IAI-PadoTest 4.5 (IAI Inc., IAI Institute, Zuchwil, Switzerland) - a system for the detection of Tf, P…
Force-velocity profiling in athletes: Reliability and agreement across methods
2021
The aim of the study was to examine the test-retest reliability and agreement across methods for assessing individual force-velocity (FV) profiles of the lower limbs in athletes. Using a multicenter approach, 27 male athletes completed all measurements for the main analysis, with up to 82 male and female athletes on some measurements. The athletes were tested twice before and twice after a 2- to 6-month period of regular training and sport participation. The double testing sessions were separated by ~1 week. Individual FV-profiles were acquired from incremental loading protocols in squat jump (SJ), countermovement jump (CMJ) and leg press. A force plate, linear encoder and a flight time cal…
The reliability of continuous brain responses during naturalistic listening to music
2015
Low-level (timbral) and high-level (tonal and rhythmical) musical features during continuous listening to music, studied by functional magnetic resonance imaging (fMRI), have been shown to elicit large-scale responses in cognitive, motor, and limbic brain networks. Using a similar methodological approach and a similar group of participants, we aimed to study the replicability of previous findings. Participants' fMRI responses during continuous listening of a tango Nuevo piece were correlated voxelwise against the time series of a set of perceptually validated musical features computationally extracted from the music. The replicability of previous results and the present study was assessed b…
Adaptation and validation for Spain of the Child-Oral Impact on Daily Performance (C-OIDP) for use with adolescents.
2010
Objectives. To linguistically and culturally adapt the Child-OIDP, an Oral Health-Related Quality of Life (OHRQoL) index, into Spanish for use among adolescents, and to validate it by evaluating the psychometric properties of the self-administered version. Study design. Following a forward - backward translation procedure, the English version of the questionnaire was translated by independent translators and the reconciled version was then sent to three experts for assessment. A pilot study was conducted on a sub-sample of 30 adolescents aged between 11 - 12 years to assess their understanding of the questionnaire and its wording. The participants in the main study comprised 425 school chil…
Reliability and Validity Study of the Finnish Adaptation of Scoliosis Research Society Questionnaire Version SRS-30
2017
Study design A prospective clinical study to test and adapt a Finnish version of the Scoliosis Research Society 30 (SRS-30) questionnaire. Objective The aim of this study was to perform cross-cultural adaptation and evaluate the validity of the adapted Finnish version of the SRS-30 questionnaire. Summary of background data The SRS-30 questionnaire has proved to be a valid instrument in evaluating health-related quality of life (HRQoL) in adolescent and adult population with spine deformities in the United States. Multinational availability requires cross-cultural and linguistic adaptation and validation of the instrument. Methods The SRS-30 was translated into Finnish using accepted methods…