Search results for "Goti"
showing 10 items of 634 documents
Lifetime exercise and disk degeneration: an MRI study of monozygotic twins.
1997
Participation in some competitive sports has been shown to increase disk degeneration; however, the long-term effects of recreational physical activities are unclear. We investigated the effects of endurance exercise and power sports on disk degeneration in monozygotic male twins with contrasting lifetime exercise histories. The effects of endurance exercise were studied in 22 discordant twin pairs (mean lifetime frequencies of 3.9 vs 1.1 times/wk), and the effects of power sports were investigated in 12 discordant pairs (2,300 vs 200 h of weightlifting). The age range of the twins was from 35 to 69 yr. No differences in MRI findings between co-twins discordant for endurance exercise were f…
Motor Development and Physical Activity: A Longitudinal Discordant Twin-Pair Study.
2015
ntroduction : Previous longitudinal research suggests that motor proficiency in early life predicts physical activity in adulthood. Familial effects including genetic and environmental factors could explain the association, but no long-term follow-up studies have taken into account potential confounding by genetic and social family background. The present twin study investigated whether childhood motor skill development is associated with leisure-time physical activity levels in adulthood independent of family background. Methods : Altogether, 1550 twin pairs from the FinnTwin12 study and 1752 twin pairs from the FinnTwin16 study were included in the analysis. Childhood motor development wa…
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol
2012
Serum lipid levels have been associated with cardiovascular diseases, metabolic syndrome and type II diabetes (Kannel et al., 1961; Miller & Miller, 1975; Pilia et al., 2006). Variation in lipids levels is highly influenced by heritable factors (Friedlander et al., 1997) and 95 loci have already been associated with levels of high density lipoprotein (HDL) cholesterol, low density lipoprotein (LDL) cholesterol, triglycerides (TG) and total cholesterol (TC) in numerous study samples and replicated in various populations using genome-wide approaches (Aulchenko et al., 2008; Kathiresan et al., 2008; Kooner et al., 2008; Teslovich et al., 2010; Willer et al., 2008). However, the genetic associa…
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
2019
International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In males, hemizygous PORCN mutations are lethal in utero. Around 300 cases have been reported in the literature to date. About 10% of them are males presenting either Klinefelter syndrome (karyotype 47, XXY) or mosaicism of a postzygotic mutation. Here we describe four cases of women with typical features of FDH, in whom a PORCN mutation was found in DNA from affected cutaneous tissue b…
Differences in Corneal Anatomy in a Pair of Monozygotic Twins Due to Continuous Contact Lens Wear
2003
Purpose To study the differences in the corneal anatomy in a pair of 31-year-old monozygotic female twins, one of whom has been a contact lens wearer for the past 15 years and the other is a nonwearer. Methods We analyzed the corneal thickness and the corneal endothelial cell density of the monozygotic twins and of two age-matched control groups, one made up of non-contact lens wearers (35 eyes of 35 patients; mean age, 29.32 +/- 2.83 years) and the other made up of soft contact lens wearers (30 eyes of 30 patients; mean age, 33.08 +/- 3.72 years; mean duration of contact lens use, 10.62 +/- 4.32 years). Five corneal thickness measurements were carried out with the Orbscan Topography System…
Improved accuracy of hysteroembryoscopic biopsies for karyotyping early missed abortions
2003
Abstract Objective To assess the potential of direct embryo and chorion biopsies obtained by hysteroembryoscopy for karyotyping early missed abortions. Design Clinical prospective descriptive study. Setting Instituto Valenciano de Infertilidad, Valencia, Spain. Patient(s) Sixty-eight women (71 gestational sacs) with missed abortions. The gestational age on ultrasound was 6.3 weeks (range, 4–10 weeks). Intervention(s) Transcervical hysteroembryoscopy before curettage. Main outcome measure(s) Comparison between the cytogenetic results from hysteroembryoscopic biospies and those of the curettage material. Result(s) Hysteroembryoscopic biopsies could be taken in 97.2% of the gestational sacs. D…
Report on a very young dizygotic human twin pregnancy.
1981
Two ova implanted in one uterus were found at the autopsy of a 28-year-old woman. The ovulation age of both implantations has been estimated to be 10–12 days. The presence of two equally large corpora lutea, one in each ovary, indicates that the implanted ova originated from different ovaries. Thus, an “ovulatio biovarialis” seems to be the basis for the dizygotic twinning in this case. The case is believed to be the only documented example of a very early dizygotic, fraternal pregnancy in humans.
Association Between Free-Living Sit-to-Stand Transition Characteristics, and Lower-Extremity Performance, Fear of Falling, and Stair Negotiation Diff…
2022
Abstract Background Good sit-to-stand (STS) performance is an important factor in maintaining functional independence. This study investigated whether free-living STS transition volume and intensity, assessed by a thigh-worn accelerometer, is associated with characteristics related to functional independence. Methods Free-living thigh-worn accelerometry was recorded continuously for 3–7 days in a population-based sample of 75-, 80-, and 85-year-old community-dwelling people (479 participants; women n = 287, men n = 192). The records were used to evaluate the number and intensity (angular velocity of the STS phase) of STS transitions. Associations with short physical performance battery (SPP…
Agenda meetings : Topic progression in negotiating activity.
1999
Rosana.Dolon@uv.es
Biological clocks and physical functioning in monozygotic female twins
2018
Background Biomarkers of biological aging – DNA methylation age (DNAm age) and leukocyte telomere length (LTL)– correlate strongly with chronological age across the life course. It is, however, unclear how these measures of cellular wear and tear are associated with muscle strength and functional capacity, which are known to decline with older age and are associated with mortality. We investigated if DNAm age and LTL were associated with body composition and physical functioning by examining 48 monozygotic twin sisters. Methods White blood cell DNAm age (predicted years) was calculated from Illumina 450 k BeadChip methylation data using an online calculator. DNAm age acceleration was define…