Search results for "Skeletal"
showing 10 items of 3025 documents
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
2007
Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…
A new heart rate variability-based method for the estimation of oxygen consumption without individual laboratory calibration: Application example on …
2008
Traditionally, the estimation of oxygen consumption (VO2) at work using heart rate (HR) has required the determination of individual HR/VO2 calibration curves in a separate exercise test in a laboratory (VO2-TRAD). Recently, a new neural network-, and heart rate variability-based method has been developed (Firstbeat PRO heartbeat analysis software) for the estimation of VO2 without individual calibration (VO2-HRV). In the present study, the VO2-values by the VO2-HRV were compared with the values by VO2-TRAD in 22 postal workers. Within individuals the correlation between the two methods was high (range 0.80-0.99). The VO2-TRAD gave higher values of VO2 compared to VO2-HRV (19%) especially d…
Biomechanical loading in the triple jump
2000
The triple jump is a demanding field event in which a jumper must tolerate extremely high impact forces while maintaining high horizontal speed. The present study was designed to clarify the mechanical loading characteristics and the role of neuromuscular function in the triple jump. Seven national triple jumpers (4 males, 3 females) volunteered to perform 3-6 jumps. The mean best performances were 14.32+/-0.45 m and 11.90+/-0.28 m for males and females, respectively. The three longest triple jumps for each jumper were selected for final analysis. The mean contact times were 0.139 s (hop), 0.157 s (step) and 0.177 s (jump). The largest ground reaction forces were observed in the step (15.2 …
Withdrawal reflex organisation to electrical stimulation of the dorsal foot in humans.
2001
The present study investigated excitatory reflex receptive fields for various muscle reflex responses and reflex mediated ankle joint movements using randomised electrical stimulation of the dorsal and plantar surface of the foot in 12 healthy subjects. Eleven electrodes (0.5-cm2 cathodes) were mounted on the dorsal side and three on the plantar side of the foot. A low (1.5 times pain threshold) and a high (2.3 times pain threshold) stimulus intensity were used to elicit the reflexes. EMG signals were recorded from tibialis anterior (TA), gastrocnemius medialis (GM), soleus (SO), biceps femoris (BF), and rectus femoris (RF) muscles together with the ankle movement measured by a goniometer. …
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
2010
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.
Role of the pyrin M694V (A2080G) allele in acute myocardial infarction and longevity: a study in the Sicilian population
2006
Abstract A proinflammatory genotype seems to contribute significantly to the risk of developing coronary heart disease (CHD). Conversely, the susceptibility alleles to inflammatory disease should be infrequent in the genetic background favoring longevity. In fact, in a modern environment, attainment of longevity is facilitated by an anti-inflammatory status. To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean fever (FMF) may play an opposite role in CHD and in longevity, we examined three FMF-associated mutations, M694V (A2080G), M694I (G2082A), and V726A (T2177C), encoded by the FMF gene (MEFV) in 121 patients affected by acute myocardial infa…
Histological findings in direct inguinal hernia
2013
Abstract BACKGROUND: The study is focused on recognizing the histological changes of the structures close to and around the hernia opening in patients having direct inguinal hernia. METHODS: In 15 patients with primary bilateral direct inguinal hernia who underwent a Stoppa open posterior inguinal hernia repair, tissue specimens from the abdominal wall surrounding a direct hernia border were excised for histological examination. These findings in patients with direct inguinal hernia were compared with tissue specimens excised from the fossa inguinalis media of cadavers without hernia. RESULTS: Significant degenerative modifications such as fibrohyaline degeneration and fatty substitution of…
Changes in strength and power performance and serum hormone concentrations during 12 weeks of task-specific or strength training in conscripts.
2020
Abstract The purpose of this study was to investigate the effects of two different training programs on strength and power performance and serum hormone concentrations. A total of 104 male soldiers volunteered and took part in the 12‐week training period with baseline, mid‐, and post‐measurements of body composition, muscle strength, lower and upper body power, and blood samples to determine serum hormone concentrations. The mean (±SD) age of subjects was 20 ± 1 years, height 180 ± 6 cm and body mass 72.4 ± 8.8 kg. The subjects were divided into three different training groups: soldier task‐specific training (TS), strength training (ST), and control (CON). Each group had a total of 18 train…
Modulation of intracortical inhibition induced by low- and high-frequency repetitive transcranial magnetic stimulation.
2001
We studied the changes of duration of subsequent silent periods (SPs) during repetitive magnetic stimulation (rTMS) trains of ten stimuli delivered at low (1 Hz) and high (7 Hz) frequencies. The effects at different intensities of stimulation (motor threshold, MT, 115% and 130% above the MT) were also evaluated. rTMS was performed in eight healthy subjects with a figure-of-eight coil placed over the hand motor area. The SP was recorded from abductor pollicis brevis (APB) muscle during a voluntary contraction of 30% of maximum effort. rTMS at 1-Hz frequency progressively decreased the duration of SP, whereas an alternating pattern of smaller and larger values was observed during trains at 7-…
Emotional communication in the context of joint attention for food stimuli: Effects on attentional and affective processing
2014
Guided by distinct theoretical frameworks (the embodiment theories, shared-signal hypothesis, and appraisal theories), we examined the effects of gaze direction and emotional expressions (joy, disgust, and neutral) of virtual characters on attention orienting and affective reactivity of participants while they were engaged in joint attention for food stimuli contrasted by preference (disliked, moderately liked, and liked). The participants were exposed to videos of avatars looking at food and displaying facial expressions with their gaze directed either toward the food only or toward the food and participants consecutively. We recorded eye-tracking responses, heart rate, facial electromyogr…