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Mancuso M Conforti FL Rocchi A Tessitore A Muglia M Tedeschi G Panza D Monsurrò M Sola P Mandrioli J Choub A DelCorona A Manca ML Mazzei R Sprovieri T Filosto M Salviati A Valentino P Bono F Caracciolo M Simone IL La Bella V Majorana G Siciliano G Murri L Quattrone A 《Neuroscience letters》2004,371(2-3):158-162
Mitochondrial impairment has been implicated in the pathogenesis of the amyotrophic lateral sclerosis (ALS). Furthermore, mitochondrial-specific polymorphisms were previously related to other neurodegenerative diseases, such as Parkinson, Friedreich and Alzheimer disease. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of sporadic ALS (sALS), we have genotyped predefined European mtDNA haplogroups in 222 Italian patients with sALS and 151 matched controls. Individuals classified as haplogroup I demonstrated a significant decrease in risk of ALS versus individuals carrying the most common haplogroup, H (odds ratio 0.08, 95% confidence interval 0.04-0.4, p < 0.01). Further stratification of the dataset by sex, age and site of onset of disease and survival failed to reach significance for association. Our study provides evidence of the contribution of mitochondrial variation to the risk of ALS development in Caucasians. Further it may help elucidate the mechanism of the mitochondrial dysfunction detectable in ALS, and may be of relevance in development of strategies for the treatment of this disease. 相似文献
23.
Enrico M Trecarichi Mario Tumbarello de Gaetano Katleen Donati Enrica Tamburrini Roberto Cauda Christina Brahe Francesco D Tiziano 《AIDS research and therapy》2006,3(1):22-4
Despite multiple sexual exposure to HIV-1 virus, some individuals remain HIV-1 seronegative (exposed seronegative, ESN). The
mechanisms underlying this resistance remain still unclear, although a multifactorial pathogenesis can be hypothesised. Although
several genetic factors have been related to HIV-1 resistance, the homozigosity for a mutation in CCR5 gene (the 32 bp deletion, i.e. CCR5-Delta32 allele) is presently considered the most relevant one. In the present study we
analysed the genotype at CCR5 locus of 30 Italian ESN individuals (case group) who referred multiple unprotected heterosexual intercourse with HIV-1 seropositive
partner(s), for at least two years. One hundred and twenty HIV-1 infected patients and 120 individuals representative of the
general population were included as control groups. Twenty percent of ESN individuals had heterozygous CCR5-Delta 32 genotype,
compared to 7.5% of HIV-1 seropositive and 10% of individuals from the general population, respectively. None of the analysed
individuals had CCR5-Delta 32 homozygous genotype. Sequence analysis of the entire open reading frame of CCR5 was performed in all ESN subjects and no polymorphisms or mutations were identified. Moreover, we determined the distribution
of C77G variant in CD45 gene, which has been previously related to HIV-1 infection susceptibility. The frequency of the C77G
variant showed no significant difference between ESN subjects and the two control groups. 相似文献
24.
Santoro Giorgio Piccirilli Manolo Chiarella Vito Greco Nicoletta Berra Luigi Valentino Santoro Antonio 《Neurosurgical review》2021,44(4):1977-1985
Neurosurgical Review - Capillary hemangiomas (CHs) of the central nervous system represent a rare diagnosed pathology. CHs are benign vascular tumors whose most common manifestations are dermal and... 相似文献
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Ricciardi Luca Stifano Vito Pucci Resi Stumpo Vittorio Montano Nicola Della Monaca Marco Lauretti Liverana Olivi Alessandro Valentini Valentino Sturiale Carmelo Lucio 《Neurosurgical review》2021,44(1):153-161
Neurosurgical Review - The surgical injury of the intracranial portion of the facial nerve (FN) is a severe complication of many skull base procedures, and it represents a relevant issue in terms... 相似文献
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Tiziano Croci Marco Landi Danielle Gully Jean-Pierre Maffrand Gérard Le Fur Luciano Manara 《British journal of pharmacology》1997,120(7):1312-1318
- We investigated the effect of the non-peptide neurotensin (NT) antagonist SR 48692 on renal function in rats and the involvement of nitric oxide (NO) in the diuretic action of this compound.
- In fed animals, SR 48692 dose-dependently (0.5 to 12.5 mg kg−1, p.o., 0.03 to 1 mg kg−1, i.p. and 0.1 to 1 μg/rat, i.c.v.) increased urine output and urinary excretion of Na+, K+ and Cl− and reduced urine osmolality. The diuretic activity was also evident in water-deprived, fasted animals and in fasted, water-loaded rats.
- NT (0.1 μg/rat, i.c.v.) had no effect on urine output in fed rats, but reduced the diuretic action of SR 48692 (1 μg/rat, i.c.v.). The opposite result was obtained in fasted, water-loaded animals: NT dose-dependently (0.01 and 0.1 μg/rat, i.c.v.) inhibited diuresis and this effect was significantly inhibited by i.c.v. SR 48692. In this experimental condition, SR 48692 did not further increase the on-going diuresis.
- The NO synthesis inhibitor Nω-nitro-L-arginine methyl ester (L-NAME; 30 mg kg−1, i.p.) alone had no effect on urine output in fed rats but prevented the diuretic action of i.c.v. or i.p. SR 48692; L-arginine (1 g kg−1, i.p.) but not D-arginine (1 g kg−1, i.p.) restored the SR 48692-dependent increase in diuresis. L-NAME had no effect on furosemide-stimulated diuresis.
- Systemically administered L-NAME or i.c.v. NT in fasted, water-loaded rats significantly reduced water diuresis but this effect was no longer seen in animals given i.p. L-arginine. Rats receiving i.c.v. NT, whose diuresis was significantly reduced, also excreted less nitrates and nitrites in urine.
- Increased diuresis after central or systemic administration of SR 48692 to fed rats was paralleled by increased urinary excretion of nitrates and nitrites, this being consistent with peripheral enhancement of NO production after NT-receptor blockade by SR 48692. The increase in diuresis after furosemide also involved an increase of nitrates and nitrites in urine, but this effect was about half that attained with an equipotent diuretic dose of SR 48692.
- In fed rats, the NO donor isosorbide-dinitrate, reduced systolic blood pressure (unlike SR 48692 which did not affect blood pressure) but also dose-dependently (1 and 5 mg kg−1, i.p.) stimulated urine output.
- The overall effects of SR 48692 strongly support a link between the actions of endogenous NT, AVP and peripheral NO production in the modulation of renal excretion of water, Na+, K+ and Cl−.
27.
The characteristics of facial nerve electromyography at various levels of neuromuscular blockade are unclear. Partial blockade is well known to facilitate anesthetic safety and management. However, the use of neuromuscular blockage in many skull base procedures is avoided to allow intraoperative facial nerve monitoring.We studied the influence of various levels of neuromuscular blockade on facial nerve stimulation in the New Zealand white rabbit. The facial nerve was exposed in the middle ear of six rabbits. Using electromyographic-type facial nerve monitor, we recorded the facial electromyography signals in these rabbits at increasing levels of vecuronium-induced neuromuscular blockade. All animals demonstrated reliable facial electromyography response at all levels of partial neuromuscular blockade (P < .02). Five of the six animals could be monitored throughout complete blockade. These results clearly demonstrate that rabbit facial electromyography monitoring is possible under neuromuscular blockade. The effect of neuromuscular blockers on facial electromyography monitoring deserves further study, as partial blockade would greatly facilitate the management of anesthesia in otologic, neurotologic, and skull base surgery. 相似文献
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G. Germano' MD A. Caparra MD S. Valentino MD U. Germano' MD F. Coia MD M. Cassone-Faldetta MD G. De Mattia MD A. Santucci MD F. Balsano MD 《Clinical autonomic research》1993,3(4):249-254
The 24 h periodic pattern of blood pressure was studied in 44 patients with diabetes mellitus (14 type 1, 30 type 2; mean duration of disease 6.5 ± 1.8 years) in good metabolic control but with abnormal cardiovascular reflex responses; of these 21 were normotensive and 23 hypertensive. All had abnormal responses to at least two out of four tests: deep breathing, lying to standing, Valsalva manoeuvre and postural hypotension. Two sex- and agematched groups, consisting of 20 normotensive and 20 hypertensive diabetic patients without dysautonomia, were studied as controls. Each patient underwent ambulatory blood pressure monitoring for at least 24 h, using an auscultatory automatic device. Data were analysed using the sum of three periodic functions (Fourier partial sum). In the diabetic normotensive groups, the absolute blood pressure fell to its night-time minimum more rapidly, and increased to its morning maximum more slowly, in those with abnormal cardiovascular reflexes than in the controls (nightly blood pressure decrease –5.8/–4.7 vs. –3.8/–4.0 mmHg/h; increase 4.7/3.6 vs. 5.9/6.1 mmHg/h). The same behaviour was found in both hypertensive groups but the amplitude of the differences was more marked (blood pressure nocturnal decrease –7.7/–7.1 vs. –4.3/–3.9 mmHg/h; increase 3.2/2.1 vs. 5.8/4.3 mmHg/h). This analysis of 24 h ambulatory blood pressure data may be of value in diagnosis and evaluation of autonomic deficits. 相似文献