1,008 research outputs found
Le applicazioni medico-legali della citofluorimetria a flusso. Ricerca sul comportamento di alcune sottopopolazioni linfocitarie nel sangue cadaverico.
No full textRiflessioni medico legali sella recente legge francese (90-527) disciplinante l'assistenza ospedaliera ai malati di mente
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Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection
Get PDFA FATAL CASE OF TRICHLOROFLUOROMETHANE (FREON 11) POISONING - TISSUE DISTRIBUTION STUDY BY GAS-CHROMATOGRAPHY MASS-SPECTROMETRY
No full textA case of lethal poisoning due to trichlorofluoromethane (FC11) inhalation is described. The fluorocarbon was determined in biological tissues by headspace gas chromatography-mass spectrometry. FC11 was detected in all the examined tissues, with decreasing levels in heart, lung, brain, liver, blood, kidney, and spleen. The highest concentration measured in heart could be related to the mode of toxic action of fluorocarbons postulated by many authors, characterized by the sensitization of the myocardium to the catecholamines producing arrhythmia and cardiac arrest. Nevertheless the aspecific picture of the anatomo-pathological and histological findings does not exclude that the described accidental fatality may have been caused by the combination of direct freon toxicity with hypoxemic asphyxiation, due to the saturation of the atmosphere by FC11 in the closed environment in which the intoxication occurred
Free insulin-like growth factor (IGF)-1 and IGF-binding proteins-2 and -3 in serum and cerebrospinal fluid of Amyotrophic Lateral Sclerosis patients
No full textBackground: The insulin-like growth factor-1 (IGF-1) signaling system is regulated by many factors which interact in regulating the bioavailability of IGF-I. In this context, little information is available on free IGF-1, the bioactive form of IGF-1, in amyotrophic lateral sclerosis (ALS). Methods: We investigated the endogenous expression of IGF-1, and two related binding proteins (IGF-binding proteins, IGFBP-2 and BP-3) in serum and cerebrospinal fluid (CSF) of 54 sporadic ALS (sALS) patients. Twenty-five healthy individuals and 25 with other neurological diseases (OND) were used as controls. Total and free IGF-1, and IGFBP-3 levels were detected by immunoradiometric assay (IRMA); IGFBP-2 levels were determined by radioimmunoassay (RIA). Results: Total and free IGF-1, IGFBP-2 and BP-3 serum levels were not significantly different between patients and controls, although in sALS patients free IGF-1 was negatively correlated with ALS-Functional Rating Scale-revised (ALS-FRS-R) score (r = -0.4; P = 0.046) and forced vital capacity (FVC) (r = -0.55; P < 0.04). In CSF, free IGF-1 was significantly increased in sALS patients compared with OND (P < 0.0001). Conclusions: Though in the serum we did not find significant differences amongst the three groups, IGF-1 bioavailability, represented by the free IGF-1 levels, correlated with disease severity. In the CSF, the significant increment of the free fraction of IGF-1 suggests an up-regulation of the IGF-1 system in the intrathecal compartment of sALS patients. Since IGF-1 is a trophic factor for different tissues, we speculate that high levels of the free IGF-1 in sALS might reflect a physiological defensive mechanism promoted in response to neural degeneration and/or muscle atrophy
Thidiazuron effects on Dianthus caryophyllus 'Lunetta'
No full textExperiments were conducted to determine the effects of Thidiazuron (TDZ) applied preharvest under glasshouse conditions on Dianthus caryophyllus 'Lunetta'. Thidiazuron at 0, 1, 10, 100, and 1000 mu M was applied as a foliar spray in two separate experiments. 15 plants were used for each concentration in both experiments. Experiments were arranged in completely randomized designs. Time to flowering was recorded, and relative stem length, total nitrogen, and tissue water content were measured at harvest. Postharvest vase life, relative fresh weight changes, and solution uptake changes were also measured. TDZ treatments sometimes decreased relative stem length compared to the control (0 mu M). TDZ treatment tended to decrease total nitrogen and water content of tissues slightly, but not significantly (P > 0.05). In the first experiment, TDZ at 100 mu M significantly increased the vase life of cut carnation flowers compared to the control. In the second experiment, TDZ applied preharvest at both 10 and 100 mu M significantly increased their vase life. TDZ treated flowers tended to maintain higher relative fresh weight, with positive differences for the 100 mu M TDZ treatment being apparent at days 5, 7 and 9 of vase life. Solution uptake was sometimes higher in TDZ treated flowers
Gender differences in instep soccer kicking biomechanics, investigated through a 3D human motion tracker system
No full textBACKGROUND: This study aims at describing and comparing each other male and female soccer players kicking instep a stationary ball. The different measures we collected by the 3D motion capture system Movit G1 and the High-Speed Camera (240 fps) were considered as dependent variables, whereas the gender was considered as the independent one.METHODS: Twenty soccer well trained non-professional players: 10 men (age: 25.3 +/- 6.5 yrs: height 1.80 +/- 0.07 m; body mass 76.9 +/- 13.2 kg) and 10 women (age: 19 +/- 3.34 yrs; height 1.64 +/- 0.07 m; body mass 58.2 +/- 7.2 kg) volunteered to participate in the study.RESULTS: Gender differences were found, with a statistical significance (P<0.05) or interesting magnitude (Cohen d>0.5). The most relevant ones were the differences in hip extension of the kicking leg when the foot of the supporting one touches the ground, just before the impact on the ball (independent sample t-Test P=0.03; Cohen d=1.64) and the speed of the ball, reached immediately after kicking (P<0.001; d=1.23).CONCLUSIONS: These results, together with the greater pelvic acceleration shown by men compared to women, highlight the need to develop a gender-differentiated training model, in order to customize the kicking technique in women and to reduce the likelihood, currently higher than for men, of kicking related injuries
Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal
No full textPoint mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis. To date, most of these mutations affect the HMG domain of SRY which plays a central role in DNA binding activity of SRY. We report on a non-mosaic XY sex-reversed newborn girl (completely female external genitalia). The direct sequencing of SRY showed a new nonsense mutation in a codon of SRY gene flanking the 3' end of the HMG domain: a thymine is replaced by a guanine at position +387 in codon 129, resulting in the replacement of the amino acid tyrosine (TAT) by a stop codon (TAG). The new mutation of this patient provides further evidence to support the functional importance of the putative DNA binding activity of the HMG-box domain
Serum irisin is upregulated in patients affected by amyotrophic lateral sclerosis and correlates with functional and metabolic status
No full textIntroduction The progression of amyotrophic lateral sclerosis (ALS) leads to a decline of the nutritional status that represents an independent prognostic factor for survival. Recent studies recognize the muscle tissue as an endocrine organ able
to release several molecules, called myokines. Among them, irisin seems to be involved in the regulation of metabolism,
body weight and development and function of the nervous system.
Objectives (1) To evaluate irisin serum levels in patients with ALS, with comparison to healthy subjects; (2) to assess the
possible association of circulating irisin levels of ALS patients with the metabolic status, clinical and biochemical features.
Methods We performed an observational, cross-sectional study in 50 ALS patients and 32 age- and sex-comparable healthy
controls. Patients underwent to a complete set of neurological, pulmonary and nutritional evaluations. Serum irisin concentration was measured by enzyme immunoassay. According to indirect calorimetry, ALS patients were divided into a
normo-metabolic patient group (n=24) and a hyper-metabolic patient group (n=26).
Results ALS patients showed significantly higher serum irisin levels compared to healthy subjects (51.0± 37.8 vs
13.1±2.2 ng/mL, p<0.0001). Hyper-metabolic ALS patients displayed higher serum irisin levels compared to normometabolic ALS patients and healthy controls (p<0.0009 and p<0.0001, respectively). Serum irisin levels showed significant
association with the ALSFRS-R (β=-1.18, p=0.042), Forced Vital Capacity (β = − 0.64, p=0.013), Fat Mass (β=-1.44,
p=0.034), pCO2 arterial blood levels (β=2.67, p=0.003), HCO3 − arterial blood levels (β=5.44, p=0.001) and Free Fat Mass (β=1.07, p=0.025) adjusted for sex, age and metabolic status.
Conclusions ALS patients with impaired metabolic status showed higher serum irisin levels compared to normo-metabolic
ALS patients and healthy subjects. Irisin levels were also negatively correlated with the extent of functional and respiratory
impairment, due to as yet unknown causes, being more elevated in patients with greater disabilit
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