Search results for "Bow"
showing 10 items of 1006 documents
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
2018
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…
Antibodies to cytoskeletal proteins in patients with Crohn's disease
1990
. The immunologic basis of inflammatory bowel disease has been the focus of interest of a series of studies on Crohn's disease and the process of immune sensitization at the gastrointestinal mucosal level is functionally poorly understood. To date only few contradictory reports concerning the incidence of autoantibodies in patients with this disease exist. The aim of this study was to investigate the sera drawn from 60 patients suffering from biopsy-proven Crohn's disease to evaluate the prevalence of autoantibodies against nuclear antigens and cytoskeletal proteins. Using standard methods, no anti-nuclear antibodies or antibodies to extractable nuclear antigens could be detected. All sera …
Confocal Endomicroscopy Identifies Loss of Local Barrier Function in the Duodenum of Patients with Crohnʼs Disease and Ulcerative Colitis
2014
Background: Increased cell shedding with gap formation and local barrier dysfunction can be identified endomicroscopically in the terminal ileum of patients with inflammatory bowel disease. We aim to evaluate whether these changes are also present in the duodenum of patients with inflammatory bowel disease. Methods: Fifteen patients with Crohn's disease (CD), 10 patients with ulcerative colitis (UC), and 10 controls underwent fluorescein-aided confocal laser endomicroscopy (CLE). CLE was performed on macroscopically normal antral and duodenal (D1, D2, D3, D4) mucosa. Representative CLE images were prospectively analyzed. Images were scored for the number of epithelial gaps, cell shedding, a…
Testicular fusocellular rhabdomyosarcoma as a metastasis of elbow sclerosing rhabdomyosarcoma: A clinicopathologic, immunohistochemical and molecular…
2010
Abstract Sclerosing rhabdomyosarcoma (SRMS) is an infrequent variant of rhabdomyosarcoma characterized by extensive intercellular hyaline fibrosis. We report the case of a 37 year-old male with a 9 × 6 cm SRMS on the right elbow. Histologically, the tumor showed an abundant extracellular hyaline matrix with extratumoral vascular emboli and microscopic foci of fusocellular embryonal rhabdomyosarcoma (FRMS) separated by a fibrotic band from the sclerosing areas. One year later the patient presented with a right intratesticular tumor of 1.2 × 0.8 cm, which was reported as pure FRMS. Immunohistochemically, SRMS was positive only for MyoD1 and Vimentin and negative for Myogenin and Desmin. Both …
Circumscribed palmar or plantar hypokeratosis: a distinctive epidermal malformation of the palms or soles.
2002
Abstract Background: Epidermal malformations of the skin include a group of heterogeneous developmental defects that result from errors in morphogenesis of the epidermis during intrauterine life. Objective: The purpose of this study was to report the clinical and histopathologic features of a distinctive epidermal malformation involving the skin of the palms or soles. Methods: Ten patients were included in this study. All of them showed the same clinical features that consisted of a solitary circumscribed and circular area of erythematous depressed skin on the palm or on the sole. Diagnosis was confirmed by histopathologic study. Results: All patients were middle aged or elderly. Nine patie…
Tuberculoid leprosy and Type 1 lepra reaction.
2008
Summary A patient is described with tuberculoid leprosy and Type 1 (lepra) reaction from Sicily a non-endemic region, who lived previously in Manila from 2000 to 2005. The skin lesions became acutely inflamed and edematous. The plaques were painless to touch or pinprick, and there was swelling of the nerves in the fibro-osseous tunnels under the surface of the skin, including both the ulnar nerve at the elbow, and the posterior tibial nerve (medial malleolus). During the course of electro-neurographic studies, conduction velocity in the motory nerves indicated a slowing-down. The diagnosis of leprosy was confirmed by residence in an endemic area for about 5 years, by simultaneous skin lesio…
Force and EMG power spectrum during eccentric and concentric actions
2000
This study was designed to examine the force and activation levels of elbow flexor muscles during preactivated eccentric, concentric and isometric actions.Force, average EMG (aEMG), and the EMG power spectrum were investigated at different constant movement velocities (1 rad x s(-1), 2 rad x s(-1), 3 rad x s(-1), and 4 rad x s(-1)) at different joint angles.Average force at a 110 degree elbow angle was lower and aEMG was higher in concentric actions as compared with eccentric and isometric actions. At a 55 degree elbow angle, there was no difference in aEMG, or it was slightly higher in eccentric actions. MF was higher in the concentric as compared with eccentric actions at the three fastes…
Viscosity of the elbow flexor muscles during maximal eccentric and concentric actions.
1996
The aim of the present study was to estimate the damping coefficient (B factor) of the elbow flexor muscles during both eccentric and concentric muscle actions. We used a muscle model consisting of a viscous damper associated in parallel with a contractile component, both in series with an elastic component. The viscous damper allowed the concentric loss and the eccentric gain of force to be modelled. Eight volunteer subjects performed maximal eccentric and concentric elbow movements on an isokinetic dynamometer at angular velocities of 0.52, 1.04 and 2.09 rad*s(-1). Torques at an elbow joint angle of 90 degrees were recorded. Electromyogram (EMG) signals from the belly of the right elbow f…
Effect of electrode location on surface electromyography changes due to eccentric elbow flexor exercise.
2009
Experiments were carried out to determine whether the location of electrodes has an effect on eccentric exercise–induced changes in surface electromyography (sEMG) variables in the biceps brachii muscle. sEMG signals were recorded with a grid of 64 electrodes before and up to 4 days post-exercise. Root mean square (RMS) and mean power frequency (MNF) were calculated for: (1) each channel; (2) as an average of all channels; and (3) as an average of individual channel rows and columns. Mean muscle-fiber conduction velocity (CV) was estimated similarly but was based on double-differential channels. Maximal isometric voluntary torque decreased 21.3 ± 5.6% post-exercise. The average sEMG variabl…
Autosomal dominant and sporadic radio-ulnar synostosis.
1997
We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.