Search results for "LYN"
showing 10 items of 910 documents
Incident colorectal cancer in Lynch syndrome is usually not preceded by compromised quality of colonoscopy
2019
AbstractBackground: Lifetime incidence of colorectal cancer (CRC) especially in carriers of MLH1 and MSH2 pathogenic germline variants in mismatch repair genes is high despite ongoing colonoscopy s...
Oral cromolyn sodium in comparison with elimination diet in the irritable bowel syndrome, diarrheic type. Multicenter study of 428 patients.
1995
In a significant number of patients affected by the irritable bowel syndrome, an adverse reaction to food is proposed to be a causative factor. A diet that eliminates the offending foods is the obvious treatment for such adverse reactions. Compliance with a dietetic regimen is often poor and sometimes not completely free from risks.Since the diarrheic type of irritable bowel syndrome seems mainly affected by food intolerance, and previous observations suggested that oral cromolyn sodium is effective in such patients, a multicenter therapeutic trial in the diarrheic type of irritable bowel syndrome was carried out in 346 of 409 patients with this disease, to evaluate the effects of oral crom…
Intra and inter-raters reliability and agreement of stimulus electrodiagnostic tests with two different electrodes in sedated critically-ill patients
2019
Objective: The aim of the present study was to verify the intra- and inter-rater reliability and agreement of the stimulus electrodiagnostic test (SET) measurements obtained by pen and square elect...
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
Internalized myofiber capillaries: Observations on their origin and clinical features
1989
Internalized capillaries limited to type 1 muscle fibers were noted in seven patients. They occurred in each case in association with a similar admixture of neurogenic and myopathic features that included atrophic and hypertrophic fibers, internal nuclei, fiber splitting, and endomyseal and perimyseal fibrosis. Internalized capillaries in enlarged type 1 fibers arose from fiber splits on step section study of four patients. They occurred in the gastrocnemius, quadriceps, and soleus muscles from patients with a variety of disorders that included Becker dystrophy, diabetes mellitus and strenuous leg activities, Achilles tendon rupture, and myotonic dystrophy. Exercise-induced myalgias were no…
Precision of a commercial hartmann-shack aberrometer: limits of total wavefront laser vision correction.
2012
Purpose To assess the intrasession and intersession precision of higher-order aberrations (HOAs) measured using a commercial Hartmann-Shack wavefront sensor (Zywave; Bausch & Lomb) in refractive surgery candidates. Design Prospective, experimental study of a device. Methods To analyze intrasession repeatability, 1 experienced examiner measured 30 healthy eyes 5 times successively. To study intersession reproducibility, the same clinician obtained measurements from another 30 eyes in 2 consecutive sessions at the same time of day 1 week apart. Results For intrasession repeatability, excellent intraclass correlation coefficients (ICCs) were obtained for total ocular aberrations, total HOAs, a…
Optical factors influencing the amplitude of accommodation
2017
AbstractThe purpose of this work was to find plausible predictors among optical parameters that may explain the inter-individual differences in subjective amplitude of accommodation not explained by age. An exploratory multivariable regression analysis was carried out retrospectively on a dataset with 180 eyes from 97 subjects (ages ranged from 20 to 58years). Subjective amplitudes of accommodation were recorded with the use of a custom-made Badal system. A commercial aberrometer was used to obtain each eye’s wavefront during the full range of accommodation. The plausible predictors under study were pupil diameter in the unaccommodated eye, its reduction with accommodation; fourth- and six-…
DNA-fragmentation and apoptosis-related proteins of muscle cells in motor neuron disorders
2009
Apoptosis has been described as one of the mechanisms of muscle fiber loss in infantile spinal muscular atrophy. In order to investigate if muscle fiber-apoptosis plays a role in other denervating disorders as well, we studied DNA-fragmentation, a hallmark of apoptosis, by the TUNEL-method and, moreover, the expression patterns of apoptosis-related proteins in 2 patients suffering from ALS and in 6 patients with polyneuropathy. We identified DNA-cleavage in muscle fibers of all these patients. Furthermore, we found strong expression of bax and ICE promoting apoptosis in muscle fibers. However, also strong expression of the anti-apoptotic factor bcl-2 was found. Our findings indicate that de…
On-eye optical quality of daily disposable contact lenses for different wearing times
2012
Purpose To quantify the optical quality of various daily disposable contact lenses in vivo and to ascertain its variation in terms of wearing time by means of objective non-invasive determination of wavefront patterns. Methods The crx1 adaptive-optics system was used to measure the wavefront aberrations in 15 myopic eyes before and at 2-h intervals after contact lens fitting, over a 12-h wearing period. Seven types of contact lenses having different material, water content and lens design were evaluated in this study: Dailies Total1, Dailies AquaComfort Plus, Proclear 1 Day, 1-Day Acuvue TruEye, 1-Day Acuvue moist, SofLens daily disposable and Clariti 1-Day. The aberration data were analyse…
F-Wave study in patients with chronic renal failure on regular haemodialysis
1986
Motor nerve conduction along the entire length of ulnar and tibialis posterior nerves was studied in 30 uraemic patients and in 20 control subjects. The M and F latencies, MNCV (between the stimulus sites), FWCV (between the spinal cord and the stimulus sites) and F-ratio (conduction time ratio of proximal to distal segment) were assessed to evaluate the conduction in the proximal versus the distal nerve segment. In the uraemic patients, the slowing of nerve conduction involved both segments of the tested nerves to the same extent. In fact, the F-ratio did not show any significant difference between the two groups; in only one patient was its value lower than the normal limit in the tibiali…