Search results for "onset."
showing 10 items of 478 documents
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area
2015
Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
2005
Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and…
[Rt or RDt, that is the question!]
2021
The article compares two of the most followed indices in the monitoring of COVID-19 epidemic cases: the Rt and the RDt indices. The first was disseminated by the Italian National Institute of Health (ISS) and the second, which is more usable due to the lower difficulty of calculation and the availability of data, was adopted by various regional and local institutions. The rationale for the Rt index refers to that for the R0 index, the basic reproduction number, which is used by infectivologists as a measure of contagiousness of a given infectious agent in a completely susceptible population. The RDt index, on the other hand, is borrowed from the techniques of time series analysis for the tr…
Neue orale Antikoagulanzien zur Therapie der venösen Thromboembolie
2011
In the current treatment of venous thromboembolism most patients are treated with vitamin K antagonists (VKA). VKA have many disadvantages including slow onset of action, multiple food and drug interactions and a large inter-individual variability in their efficacy. Recently several alternative oral anticoagulants have been developed, which have several advantages in comparison to VKA. So far two large randomized studies comparing new oral anticoagulants with VKA in patients with venous thromboembolism have been published: the RECOVER study with the oral direct thrombin antagonist dabigatran and the EINSTEIN-DVT study with the oral direct factor Xa-antagonist rivaroxaban. With regard to rec…
Development of the insight scale for affective disorders (ISAD): modification from the scale to assess unawareness of mental disorder.
2011
Abstract Background Research on insight in patients with mood disorders has grown in recent years. Several instruments to assess insight have been used, but most of them have been specifically designed for psychosis and may not appear relevant to mood disorders. The aim of the present study is to develop a short, multidimensional, reliable and valid scale to measure insight in patients with mood disorders, based on the Amador's Scale to Assess Unawareness of Mental Disorders (SUMD). Method A Delphi method was used to facilitate expert participation and ensure face and content validity. The SUMD structure and items were used as a reference in the scale development. A new scale with 17 items …
Climate Effects on Breeding Phenology of Peregrine and Lanner Falcons in the Mediterranean
2022
We explored the effects of weather on the timing and reproduction of the Mediterranean Peregrine Falcon Falco peregrinus brookei and the Lanner Falcon F. biarmicus feldeggii living on the Mediterranean island of Sicily. We found that the start date of incubation has changed during 1979–2019 and analysed whether incubation timing affected the productivity of both populations and whether the change of incubation date and the quality of breeding sites depended on climatic conditions. Overall spring temperature and rainfall increased on Sicily and the incubation date of the Peregrine and the Lanner Falcon has shifted to be about one week later over the time period 1979 to 2019. Linear mixed mod…
FIRST EPISODE PSYCHOSIS PATIENTS WHO USED CANNABIS DEVELOP THEIR ILLNESS AT A SIGNIFICANTLY YOUNGER AGE THAN THOSE WHO NEVER USED CONSISTENTLY ACROSS…
2018
Background: Patients presenting to psychiatric services with their first episode of psychosis (FEP) report higher rates of previous cannabis use than the general population (Donoghue et al., 2011; Myles, Myles and Large, 2016). Evidence suggested that patients suffering from psychosis with a history of cannabis use have an earlier age of onset of psychosis (AOP) than those who never used it (Di Forti et al., 2013). We aim to investigate if the reported association between use of cannabis and AOP is consistent across different countries, once having taken into account different patterns of cannabis use (i.e. frequency of use and age at first use). Methods: We analysed data on patterns of lif…
REM sleep behavior disorder and periodic leg movements in sleep in patients with amyotrophic lateral sclerosis
2013
Introduction In the last few years, it has been increasingly recognized that patients with amyotrophic lateral sclerosis (ALS) frequently suffer of sleep-related complaints, including insomnia, restless legs syndrome, and daytime sleepiness, although, in the past, many of the nocturnal symptoms have been mainly ascribed to chronic respiratory insufficiency and hypoventilation. In addition, excluding few single cases reported, polysomnographic studies did not look for abnormal motor activity during sleep that could be indicative of Rapid Eye Movements (REM) sleep behavior disorder (RBD) and REM sleep without atonia (RSWA), which are highly prevalent in other neurodegenerative disorders with …
Percentile Reference Charts for Selected Sleep Parameters for 20- to 80-Year-Old Healthy Subjects from the SIESTA Database. Referenzkurven fur ausgew…
2005
One of the aims of the SIESTA project was to establish a normative database of sleep parameters for healthy and sleep-disturbed patients. Reference data for sleep parameters in non-sleep-disturbed subjects are scarce and usually refer to means and standard deviations. However, since most of the parameters do not follow a Gaussian distribution, percentiles of the distribution provide more detailed information. The present results are based on data from 198 healthy, non-sleep-disturbed subjects (104 females) in the age range of 20 to 95 years. For every subject, two consecutive nights were polysomnographically recorded in one of the eight participating clinical centres. Percentile charts were…
Physical Methods for Enhancing Oral Mucosal Delivery: Sonophoresis, Iontophoresis and Electroporation
2015
The need for more rapid onset of action and improved absorption of medications has resulted in great development of drug delivery technologies. Transmucosal drug delivery offers a convenient route of administration for a variety of clinical indications. Unfortunately, the wide variability in structure of the oral mucosal tissues could constitute a key factor in drug penetration and absorption. To circumvent this obstacle and to increase the drug flux through the mucosal membranes, different approaches to permeation enhancement are used. This chapter describes the most significant aspects of the physical techniques widely used such as sonophoresis, iontophoresis, and electroporation. These p…