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showing 10 items of 4295 documents
Seroprevalence of Aichi Virus in a Spanish Population from 2007 to 2008
2010
ABSTRACT Viruses are among the most common causes of acute gastroenteritis. In recent years, new viruses causing outbreaks of acute gastroenteritis have been described. Among these, Aichi virus was identified in Japan in 1989. Aichi virus belongs to the Kobuvirus genus in the family Picornaviridae . This virus has been detected in outbreaks of gastroenteritis associated with oyster consumption and in pediatric stool samples, but little is known about its epidemiology or pathogenesis. In the present study, the prevalence of antibodies to Aichi virus in a Spanish population was determined between 2007 and 2008 by using an enzyme-linked immunosorbent assay (ELISA). As in previous studies, a hi…
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…
Mycobacterial Infection: A Difficult and Late Diagnosis in Stem Cell Transplant Recipients
2004
The Infectious Diseases Working Party of the European Blood and Marrow Transplant Group conducted a survey to obtain information about the frequency, presentation, and treatment of mycobacterial infection (MBI) in stem cell transplant (SCT) recipients. Among 29 centers, MBI was diagnosed in 0.79% of 1513 allogeneic and 0.23% of 3012 autologous SCT recipients during 1994-1998 a median of 160 days after transplantation. The mean interval between first symptoms and diagnosis was 29 days and was still longer for patients with atypical MBI or recipients of corticosteroid therapy. The prevalence of MBI was highest among those who received matched unrelated or mismatched STCs from related donors. …
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
2015
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specificall…
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
2009
Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five ot…
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…
Endoscope-assisted Brain Surgery: Part 2—Analysis of 380 Procedures
1998
Objectives Microsurgical techniques and instruments that help to reduce intraoperative retraction of normal intracranial neuronal and vascular structures contribute to improved postoperative results. To achieve sufficient control of the operating field without retraction of neurovascular components, the resection of dura and bone edges is frequently required, which, on the other hand, increases operating time and operation-related trauma. The use of endoscopes may help to reduce retraction and, at the same time, may help to avoid additional dura and bone resection. The aim of this study is to describe the principles on which the technique of endoscope-assisted brain surgery is based, to giv…
The influence of surgical experience on the rate of intraoperative aneurysm repture and its impact on aneurysm treatment outcome.
2001
Abstract BACKGROUND The influence of surgical experience on the result of aneurysm surgery remains unclear. To determine the impact of surgical experience we considered the occurrence of intraoperative aneurysm rupture (IAR) during microneurosurgery for intracranial aneurysms as an objective factor that could be evaluated. METHODS A retrospective study was performed on 379 consecutive patients with 490 cerebral aneurysms operated upon from 1989 to 1995. RESULTS IAR occurred in 6.7% of aneurysms and 8.7% of patients. There was a direct inverse relationship between the annual caseload of the surgeon and the risk of IAR. New neurological deficits (NND) occurred in 21% of patients with IAR, whi…
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …