Search results for "onset."

Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

2018

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generat…

New-onset headache following COVID-19: An Italian multicentre case series

2023

Objective: To describe the characteristics of patients with new-onset headache following SARS-CoV-2 infection. Background: SARS-CoV-2 infection leads to several neurological manifestations, and headache is a frequent and disabling symptom, both exacerbating pre-existing headache syndromes and causing new-onset ones. Methods: Patients with new-onset headache after SARS-CoV-2 infection with consent to participate were included, while those ones with previous headaches were excluded. The temporal latency of headache after infection, pain characteristics, and concomitant symptoms were analysed. Moreover, the efficacy of acute and preventive medications was explored. Results: Eleven females (med…

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…