Search results for "BD"
showing 10 items of 3363 documents
Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
2008
AIM: To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed < 19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The f…
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
2015
Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Results Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556-/- null mice possess…
Dipole source analyses of laser evoked potentials obtained from subdural grid recordings from primary somatic sensory cortex
2011
The cortical potentials evoked by cutaneous application of a laser stimulus (laser evoked potentials, LEP) often include potentials in the primary somatic sensory cortex (S1), which may be located within the subdivisions of S1 including Brodmann areas 3A, 3B, 1, and 2. The precise location of the LEP generator may clarify the pattern of activation of human S1 by painful stimuli. We now test the hypothesis that the generators of the LEP are located in human Brodmann area 1 or 3A within S1. Local field potential (LFP) source analysis of the LEP was obtained from subdural grids over sensorimotor cortex in two patients undergoing epilepsy surgery. The relationship of LEP dipoles was compared wi…
Abnormal facilitatory mechanisms in motor cortex of migraine with aura
2010
Experimental evidence suggests impairment of inhibitory intracortical circuits in migraine, while not much is known about activity of facilitatory intracortical circuits. In the present work we evaluated the effects of high frequency-repetitive transcranial magnetic stimulation (hf-rTMS) on the activity of facilitatory circuits of motor cortex in 18 patients affected by migraine with aura and 18 healthy subjects. Trains of 10 stimuli were applied to the motor cortex at 5-Hz frequency with recording of the EMG traces from the contralateral abductor pollicis brevis muscle (APB). Two intensities of stimulation (110% and 130% of resting motor threshold) were used in order to explore whether mot…
Identification of a Unique Helicobacter Species by 16S rRNA Gene Analysis in an Abdominal Abscess from a Patient with X-Linked Hypogammaglobulinemia
2000
ABSTRACT A unique Helicobacter species, MZ640285, was isolated from a patient with X-linked hypogammaglobulinemia suffering from recurrent abdominal abscesses and was identified by 16S rRNA gene sequence analysis. In the phylogenetic tree, the isolate fell into a cluster which included Flexispira rappini , Helicobacter bilis , and Helicobacter sp. strain Mainz. Helicobacters are being increasingly recognized as pathogens in immunocompromised hosts. These fastidious bacteria are not easily cultured in the routine diagnostic laboratory, and this is the first report of their identification by 16S rRNA gene sequencing performed directly from a clinical specimen.
Epidemiological and clinical features of norovirus gastroenteritis in outbreaks: a population-based study
2009
AbstractNoroviruses are the most frequent cause of acute gastroenteritis in the community. In Catalonia, it is not clear how this type of viral gastroenteritis is evolving, and the objective of this prospective population-based study was to describe the incidence and epidemiological and clinical features of outbreaks of acute gastroenteritis due to norovirus in Catalonia between October 2004 and October 2005. Incidence rates were calculated using the estimated population of Catalonia in 2005. For each outbreak, the mode of transmission, the number of persons affected, demographic variables, clinical presentation, the date and time of onset of symptoms and the duration of symptoms, physician…
Endoscopic Neurosurgery and Endoscope-assisted Microneurosurgery for the Treatment of Intracranial Cysts
1998
Objective Different endoscopic techniques have been introduced into neurosurgery, but accepted terminology and definitions are still missing. We propose a terminology based on whether the endoscope is used alone or in conjunction with an operating microscope and on whether the route of surgical manipulations is through or outside the endoscope. Accordingly, procedures are categorized into endoscopic neurosurgery (EN), endoscope-assisted microneurosurgery (EAM), and endoscope-controlled microneurosurgery (ECM). Methods We treated 36 patients with intracranial arachnoid cysts (ACs) and intraventricular cysts endoscopically. The patients ranged in age from 4 months to 69 years (mean age, 31 yr…
Follow-up after transanal endoscopic microsurgery or transanal excision of large benign rectal polyps
1998
Methods: Between January 1986 and December 1995, 238 patients with benign rectal polyps under-went either transanal endoscopic microsurgery (n = 226) or transanal excision (n = 12) at the Clinic of General and Abdominal Surgery, Johannes Gutenberg-University, Mainz. Results: Mean polyp size was 4.2 cm; 89.1% of polyps measured more than 2 cm in diameter. In 89.1% of cases, histological analysis revealed polyps containing tubulovillous or villous adenomas. Synchronous colonic polyps were detected in 12.5% of patients. Follow-up data are available on 222 patients (94%). At follow-up examination, 169 of the 193 surviving patients (87.6%) were recurrence free. Seven of 193 patients (3.6%) had d…
Functional pain in hospitalised and school children
2012
Aim. Aim of the study was to recognise the role of psychological disagreement in children and adolescents suffering from functional pain. Methods. Two groups of children, adolescents and their parents were interviewed: group H (hospitalized patients), group S (students, at school). Suitable investigations excluded organic lesions. The following data were analysed: 1) presence of pain in relation with: i) sex and age; ii) relation with parents, brothers, other relatives, schoolfellows; 2) efficacy of possible treatments. Results. Group H: 194 patients, median age 10 years; 134 referred pain: 62 out of 92 males and 72 out of 102 females; location of pain: abdomen, limbs, head, back. Family di…
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 …