Search results for "ONSET"

Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary c…

2015

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

2015

no abstract available

Preliminary clinical efficacy and safety of BMN 701, GILT-tagged recombinant human acid alpha glucosidase (rhGAA), in late-onset Pompe disease: resul…

2014

Metachromatic leukodystrophy (MLD) is a lysosomal disorder that results from the deficiency of the lysosomal enzyme arylsulfatase A. It is characterized by motor and developmental regression, seizures, deafness, blindness, dementia and premature death. There are three types of onsets: late infantile, juvenile, and adult. We performed a retrospective chart review of 71 patients (47 infantile, 23 juvenile) evaluated at the Program for Study of Neurodevelopment in Rare Disorders (NDRD) between January 2000 and August 2013. The patients were evaluated prospectively using a standardized protocol. The purpose of the study is to describe the natural course of the disease. In 31 patients only a bas…

A semi-empirical approach for predicting two-phase flow discharge through branches of various orientations connected to a horizontal main pipe

2010

Abstract The subdivision of two-phase flow in branching conduits consisting of a large horizontal main pipe with upward, downward, or lateral branches of reduced diameter is of great interest in various technological fields. For example, these conduits are important in light-water nuclear reactors (LWRs) in the case of a small break loss-of-coolant accident (SBLOCA) in a leg of the reactor's primary coolant loops, as well as for breaks or valve malfunctions in a large pipeline. In these kinds of circumstances, the relevant phenomenology often involves phase stratification coupled with possible liquid entrainment or gas pool-through phenomena. Therefore, these phenomena were studied in depth…

Early onset ONJ in patient treated with denosumab and bevacizumab: case report

2016

Benign and severe early-life seizures: a round in the first year of life

2018

Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epilepti…

Perceived Onset Time of Medical Conditions: The Interplay Between Subjective Fear and Risk in Four Lifestyle Domains

2022

Engaging in unhealthy behaviors (e.g., smoking, drinking) and not engaging in healthy ones (e.g., exercising, consuming fruit and vegetables) are both relatively prevalent among individuals despite the available information about their risks for health. People’s perception of an event’s time course can be used to gauge their risk perception for that event thus casting light on any possible misperception and suggesting directions for health-promoting interventions. This study investigates people’s perception of the time of onset of 5 noncommunicable diseases (e.g., “having high blood pressure”) associated with 4 health-related behaviors: Smoking, drinking, exercising, and eating fruit and v…

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

2012

ABSTRACT Objective: Recent evidence suggests that intermediate-length polyglutamine (PolyQ) expansions in the ataxin-2 ( ATXN-2 ) gene are a risk factor for amyotrophic lateral sclerosis (ALS). This work was undertaken with the aim to investigate the frequency of ataxin-1 ( ATXN-1 ) and ATXN-2 PolyQ expansions in a cohort of patients with sporadic ALS (sALS) and patients with familial ALS (fALS) from southern Italy. Methods: We assessed the PolyQ lengths of ATXN-1 and ATXN-2 in 405 patients with sALS, 13 patients with fALS, and 296 unrelated controls without history of neurodegenerative disorders. Results: We found significantly higher intermediate PolyQ expansions ≥32 for ATXN-1 alleles an…

Changes over three decades in outcome and the prognostic influence of age-at-diagnosis in young patients with neuroblastoma: a report from the Intern…

2011

Abstract Purpose Increasing age has been an adverse risk factor in children with neuroblastoma (NB) since the 1970’s, with a 12-month age-at-diagnosis cut-off for treatment stratification. Over the last 30 years, treatment intensity for children >12 months with advanced-stage disease has increased; to investigate if this strategy has improved outcome and/or reduced the prognostic influence of age, we analysed the International Neuroblastoma Risk Group (INRG) database. Patients and methods Data from 11,037 children with NB (1974–2002) from Australia, Europe, Japan, North America. Cox modelling of event-free survival (EFS) tested if the era and prognostic significance of age-of-diagnosis, adj…

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

2019

Background The role of the BARD1 gene in breast cancer (BC) and ovarian cancer (OC) predisposition remains elusive, as published case-control investigations have revealed controversial results. We aimed to assess the role of deleterious BARD1 germline variants in BC/OC predisposition in a sample of 4920 BRCA1/2-negative female BC/OC index patients of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Methods A total of 4469 female index patients with BC, 451 index patients with OC, and 2767 geographically matched female control individuals were screened for loss-of-function (LoF) mutations and potentially damaging rare missense variants in BARD1. All patients met the …