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Response to the letter to the Editor: Comments on marital status is a prognostic factor in amyotrophic lateral sclerosis. Safiri S et al
POST-TRAUMATIC STRESS DISORDER: A FREQUENT WORK-RELATED ILLNESS
Post-traumatic stress disorder (PTSD) is an anxiety disorder that results from exposure to a traumatic event, and is characterized by hypermnesia of the traumatic event with frequent re-experiencing of the tragic occurrence, hyperarousal, and avoidance behaviour. Depression, anxiety, sleep dysfunction and substance abuse are also commonly reported. PTSD is highly prevalent both in the general population and in certain occupations that are particularly exposed to life-threatening situations, physically and psychological demanding activities, and physical assault, such as rescue workers, firefighters and paramedics. Recent advances in the comprehension of the epidemiology, physiopathology and clinical presentation of PTSD could push toward increased identification of this common psychiatric disorder with significant reflections on the chances of successful treatmen
Expression of tumor necrosis factor-alfa and its receptors in amyotrophic lateral sclerosis
EFFECTS OF SHIFT WORK ON CARDIOVASCULAR ACTIVITY, SERUM CORTISOL AND WHITE BLOOD CELLS COUNT IN A GROUP OF ITALIAN FISHERMEN
We analyzed the effects of working activity and working shifts on the circadian rhythmicity and circadian phase relations of serum cortisol level, white blood cells count, resting heart rate and systolic/diastolic blood pressure in a group of italian fishermen. We observed a shift-induced displacement of cortisol secretion and a modification in leukocyte count. Moreover, systolic/diastolic blood pressure and resting heart rate were markedly influenced by the night shift, whereas no appreciable changes were observed after the morning and afternoon shifts, compared to pre-working values. These data suggest that the human circadian system is greatly influenced by shift work, and serum cortisol level, leukocyte count, systolic and diastolic blood pressure, and resting heart rate are sensitive indicators of the biological responses to a stress workload in shift workers, especially after a night shif
Sleep–wake problems in patients with amyotrophic lateral sclerosis: implications for patient management. NEURODEGENERATIVE DISEASE MANAGEMENT
SUMMARY Sleep–wake problems are frequent, although unrecognized, complications of amyotrophic lateral sclerosis (ALS). Sleep disorders such as insomnia, sleep-disordered breathing and restless legs syndrome have all been reported in patients with ALS, despite the limited number of studies and the small populations investigated so far. Sleep disturbances gradually worsen with disease progression, suggesting a relationship between the severity of disease and the neurodegenerative process. However, poor sleep can also be a consequence of several disturbances such as anxiety, depression, pain, choking, sialorrhea, fasciculations, cramps, nocturia and the inability to get comfortable and move freely in bed. Sleep disorders may have many reflections on patients with ALS, including excessive daytime somnolence, fatigue, impaired cognition, reduced quality of life and survival. This article reviews the recent literature on sleep–wake problems in patients with ALS, focusing on the implications for patient management
Inter- and intracellular signaling in amyotrophic lateral sclerosis: role of p38 mitogen-activated protein kinase.
The pathogenetic processes underlying the selective motor neuron degeneration in amyotrophic lateral sclerosis (ALS) are complex and still not completely understood even in the cases of inherited disease caused by mutations in the Cu/Zn superoxide dismutase-dependent (SOD1) gene. Recent evidence supports the view that ALS is not a cell-autonomous disease and that glial-neuron cross-talk, throughout cytokines and other toxic factors like the nitric oxide and superoxide, is a crucial determinant for the induction of motor neuron death. This cell-cell interaction may determine the progression of the disease through processes that are likely independent of the initial trigger and that may converge on the activation of intracellular death pathways in the motor neurons. In this review we provide support to the hypothesis that aberrant expression and activity of p38 mitogen protein-activated kinases cascade (p38MAPK) in motor neurons and glial cells may play a role in the development and progression of ALS. Increased activation of p38MAPK may phosphorylate neuron-specific substrates altering their physiological properties and it may turn on responsive genes leading to neurotoxicity
Sleep quality in caregivers of Parkinson’s disease and Alzheimer’s disease patients and its relationship to quality of life
Autosomal dominant hereditary spastic paraplegia: Report of a large Italian family with R581X spastin mutation
We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C>T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced penetrance, indicating that other genetic or environmental factors are required to trigger full-blown disease
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