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Biomedical subjects

V Ruggieri

Publications and source records attributed to V Ruggieri.

At least 19 recordsLinked to original sources
PubMed2001

Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.

Classical merosin (2 laminin)-positive congenital muscular dystrophy is a heterogeneous subgroup of disorders; a few cases characterized by severe mental retardation, brain involvement and no ocular abnormalities were called Fukuyama-like congenital muscular dystrophy. We report a family of healthy non-consanguineous parents, with four affected siblings, of which one died at the age of 7 months due to an intercurrent illness, who presented congenital hypotonia, severe mental retardation, microcephaly, delayed psychomotor development, generalized muscular wasting and weakness with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia. Muscle biopsy disclosed severe muscular dystrophy. Immunostaining for laminin 2 80 kDa and clone Mer3/22B2 monoclonal antibodies, 1 and 1 chain was preserved. Magnetic resonance imaging findings were consistent with pontocerebellar hypoplasia, bilateral opercular abnormalities and focal cortical dysplasia as well as minute periventricular white matter changes. Clusters of small T2-weighted focal hyperintensities in both cerebellar hemispheres consistent with cysts were observed in two of the three siblings studied with magnetic resonance imaging. Ophthalmologic and cardiologic examination was normal. Haplotype analysis using microsatellite markers excluded the Fukuyama congenital muscular dystrophy, LAMA2 and muscle-eye-brain disease loci. Thus, a wider spectrum of phenotypes, gene defects and protein deficiencies might be involved in congenital muscular dystrophy with brain abnormalities.

Biopsy↗
PubMed2000

Lipopolysaccharide-induced lung injury in mice. I. Concomitant evaluation of inflammatory cells and haemorrhagic lung damage.

Intratracheal instillation of lipopolysaccharide (LPS) induces an inflammatory response characterized by infiltration of polymorphonuclear neutrophils (PMNs) into the extracellular matrix and by the release of mediators that play a fundamental role in lung damage. In the present study, we developed a mouse model which allows correlation of the inflammatory response and haemorrhagic tissue injury in the same animal. In particular, the different steps of the inflammatory response and tissue damage were evaluated by the analysis of three parameters: myeloperoxidase (MPO) activity in the parenchyma, reflecting PMNs accumulation into the lung, inflammatory cells count in the bronchoalveolar lavage fluid (BALF), reflecting their extravasation, and total haemoglobin estimation in BALF, a marker of haemorrhagic tissue damage consequent to PMNs degranulation. In our experimental conditions, intra-tracheal administration of 10 microg/mouse of LPS evoked an increase of MPO activity in the lung at 4 h (131%) and 6 h (147%) from endotoxin challenge. A significant increase of PMNs in the BALF was noticed at these times with a plateau between the 12nd and 24th h. PMN accumulation produced a time-dependent haemorrhagic lung damage until 24 h after LPS injection (4 h: +38%; 6 h: +23%; 12 h: +44%; 24 h: +129% increase of haemoglobin concentration in the BALF vs. control). Lung injury was also assessed histopathologically. Twenty-four hours after the challenge, diffuse alveolar haemorrhage, as well as PMN recruitment in the interstitium and alveolus were observed in the LPS group. This model was pharmacologically characterized by pretreatment of LPS-treated mice with antiinflammatory drugs acting on different steps of the < >. We demonstrated that: a) betamethasone (1, 3, 10, 30 mg/kg p.o.) reduced in a dose-dependent manner the MPO activity, the number of inflammatory cells and, at the same time, lung injury; b) pentoxifylline, a TNFalpha production inhibitor (200 mg/kg i.p.), inhibited PMN extravasation and lung haemorrhage but it was not able to reduce MPO activity in the lung; c) L-680,833, an anti-elastase compound (30 mg/kg po), decreased significantly only the haemorrhagic lung damage; d) indomethacin, a non steroidal antiinflammatory drug (5 mg/kg p.o.), did not show any effect on any of the parameters considered. In conclusion, our in vivo mouse model is a practical alternative to animal models of ARDS (Adult Respiratory Distress Syndrome) recently described and it permits to dissect and to characterize the different steps of PMNs infiltration and, at the same time, the damage caused by their activation.

Animals↗
PubMed2000

Lipopolysaccharide-induced lung injury in mice. II. Evaluation of functional damage in isolated parenchyma strips.

Pulmonary inflammatory diseases are characterized by changes in airway responsiveness. This phenomenon is commonly related to the action of inflammatory mediators produced by infiltrated leukocytes. The aim of this study was to investigate in an ex vivo experimental model the effect of acute instillation of lipopolysaccharide (bacterial endotoxin; LPS) on lung parenchyma contractility. We firstly characterized the responsiveness of isolated murine lung to airway stimuli. Murine parenchymal strips were found to be mainly sensitive to 5-hydroxytryptamine (5-HT) while the cholinergic agonist, methacholine (MCh), evoked a smaller contractile response. 5-HT responsiveness was inhibited by methysergide. No significant parenchymal contraction was evoked by histamine, substance P and bradykinin. Lung responsiveness to 5-HT was significantly reduced by in vivo LPS treatment and this effect was only partially paralleled by leukocyte infiltration. In addition, LPS-induced hyporesponsiveness was significantly inhibited by betamethasone (BMS) or pentoxifylline (PTX) pretreatment suggesting that 5-HT lung hyporesponsiveness could be mediated by LPS-induced inflammatory mediators such as inflammatory cytokines.

Animals↗
PubMed1999

Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study.

We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and occipital agyria with marginal neuroglial heterotopia and inferior vermis hypoplasia. There was a normal pattern of myelination consistent with early age. Laminin alpha 2 chain was also absent in myocardium, brain pial-glial membrane, brain and skin blood vessels as well as intramuscular and skin nerves. Occasional basal lamina gaps were found in muscle fibres but not in brain-blood vessels. This is the first autopsy study in a merosin-deficient CMD case with abnormal cortical gyration.

Autopsy↗
PubMed1999

The running horse stops: the hypothetical role of the eyes in imagery of movement.

To examine the hypothetical role of the eyes in visual mental imagery of movement 72 undergraduate women students in psychology were asked to imagine a running horse and then to produce the same mental image without moving the eyes and the head. In 59% of the subjects interesting modifications of the imagined movement appeared: 37% observed an inhibition of the movement and 19% an evident slowing up of the moving figure. The interpretation of this result was made by hypothesizing that the eyes are concretely involved in visual imagery processes.

Adult↗
PubMed1999

[An analysis of the psychophysiological components in subjects with temporomandibular disorders. Myographic tension and the management of aggressiveness].

BACKGROUND: The stomatognathic literature doesn't sufficiently stress the role of aggressiveness as a modulator of muscular tensions. Our study focused on the hypothesis that 1) original psychological problems related to the modulation of aggressivity could produce 2) chronic muscular tension of the oral district 3) they can become the basis of the malocclusive phenomenon. The investigation was conducted in the laboratory of Clinical Psychophysiology of the University of Rome "La Sapienza". METHODS: We have examined the myographic activity of the temporal and masseter muscles of both sides in 20 women with temporomandibular dysfunction and in the control group comparable by age. The myographic tension was examined in three "stimulus situations": a) closed lips without any teeth contact; b) with light teeth contact; c) with compression of the dental arcade. Moreover, we have examined the style of aggressiveness modulation through Rosenzweig's PFS test. Features of the experimental group were. 1) age between 20 and 30 yrs; 2) presence of condylomeniscal uncoordination; 3) deviation of the median line of incisors; 4) lateral deviation in the opening and/or closing mandible. RESULTS: The experimental group showed a higher score of myographic amplitude for the above-mentioned muscles of both sides in three "stimulus situations". Moreover, it presented at the Rosenzweig's test more elevated scores for the Dominance of Obstacle (O-D); b) less elevated scores for Ego Defence (E-D). CONCLUSIONS: Results are commented on the basis of an integrated psychophysiological model.

Adult↗
PubMed1998

The hypothetical pathogenetic role of inhibition of pleasure and muscular tension in uterine fibroma.

In the framework of a psychophysiological integrated model of emotion, inhibition, and their linked role in developing pathology, we have examined some physiological and psychological aspects of 17 volunteer women with uterine fibromatosis and 14 women without pathology. The hypothesis was that women with uterine fibromatosis habitually inhibit the subjective feeling of pleasure during the sexual sequence, measured on a self-rating scale. Following the psychophysiological model of Ruggieri, the inhibitory mechanism would be actively produced by modulating the muscular tonic activity in particular of the rectus of the abdomen whose bioelectrical activity is measured at rest. The patients with uterine fibromatosis presented more elevated muscular tension than controls and less intense pleasure felt during the sexual sequence. Discussion of the data considered also the possibility that the muscular tension of the abdominal wall would play a role through reflex mechanisms (somatovisceral reflexes) in developing pathology.

Abdominal Muscles↗
PubMed1997

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.

A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15-25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation.

Adult↗
PubMed1997

Effect of increased maternal corticosterone during lactation on hippocampal corticosteroid receptors, stress response and learning in offspring in the early stages of life.

The influence of maternal corticosterone during lactation on the development of the hippocampal corticosteroid receptor system, hypothalamus-pituitary-adrenal axis activity and spatial learning/retention performance was investigated in the rat during postnatal days 11 to 30. We increased the plasma levels of corticosterone by adding the hormone (200 microg/ml) to the drinking water of the dams. When compared to controls corticosterone-nursed offspring displayed: i) higher number of hippocampal type I and type II corticosteroid receptors at 30 days of life, but no changes at 11 and 16 days; ii) higher plasma levels of corticosterone in the basal condition and after 15 min of maternal separation at 11 but not at 16 days: iii) lower adrenal weights at 11 and 16 days, but which were no longer present at the age of 30 days; iv) no difference in performance in the place learning version of the Morris water task and T aquatic maze at 16 days. The present results, together with our previous findings showing that 90-day-old corticosterone-nursed rats have lower basal and restraint stress corticosterone levels and improved learning performance, indicate that the effects of maternal treatment appears only after weaning, thereby suggesting that increased corticosteroid receptors may be responsible, at least partially, for the endocrine and learning modifications induced by pre-weaning corticosterone exposure. The role played by maternal circulating corticosterone during the period of lactation in shaping the characteristics of the hypothalamus-pituitary-adrenal axis and brain of the offspring is outlined.

Animals↗
PubMed1996

Reduced hippocampal in vitro CA1 long-term potentiation in rat offsprings with increased circulating corticosterone during neonatal life.

A moderate increase in plasma level of corticosterone was induced in dams by adding the hormone (200 micrograms/ml) to the drinking water from the day after delivery to weaning. This procedure produces a parallel increase in plasma levels of the hormone in the pups (from 0.7 +/- 0.1 to 1.2 +/- 0.2 micrograms/100 ml) at 10 days of lactation. A significant (P < 0.01) reduction in the magnitude of the long-term potentiation (LTP) of the CA1 population spike occurred in hippocampal slices obtained from 30-45 day old male corticosterone-nursed rats with respect to controls, while no significant difference occurred in the magnitude of the basal CA1 evoked extracellular somatic field potentials with respect to controls. The results demonstrate that a moderate increase in plasma corticosterone during neonatal life, obtained through maternal milk, has long-lasting effects on the hippocampal CA1 synaptic plasticity. In addition, these results together with our previous findings [Catalani, A. et al., Brain Res., 624 (1993) 209-215], demonstrating that 30 day old corticosterone-nursed offsprings perform better than controls in the place learning version of the Morris water maze, show no relationships between in vitro CA1 LTP induction and spatial learning in agreement with literature data.

Animals↗
PubMed1996

An analysis of a performance by the violinist D. Oistrakh: the hypothetical role of postural tonic-static and entourage movements.

In an interdisciplinary research project carried out by a violinist and a psychophysiologist which is based on a videotape of a performance by the violinist, David Oistrakh, we draw attention to certain postural attitudes and movements which appear in sequences of his rendition of the Brandenburg Concerto N. 4 by Bach and the Concerto for Violin in D Major by Mozart. These postural attitudes and movements occur with a certain regularity and are particular to each piece of music. For example, in the Brandenburg Concerto, one can observe rhythmic oscillations of the musician's whole body, with a shifting of the weight (alternanza di appoggio) from the left to the right foot. The performer's movements were compared with corresponding points of the musical score. Within this analytical framework, we hypothesize that these movements have not only a mechanical postural role but an expressive aesthetic one.

Arousal↗
PubMed1996

Bodily perception in the organization of postural attitude and movement.

In the present research we hypothesized that some particular areas or points of the body play a role in the modulation of muscular (tonic and phasic) activity. In particular, we hypothesized that subjects utilize some bodily points as constant perceptual afferences in organizing the motoric responses of the whole body. The bodily points (called perceptual focal points) could have the same role as the bow of a boat for the sailor in orienting the spatial position of the boat and its movement. We have observed the presence of these perceptual focal points in 85% of a group of undergraduate students of psychology, 21 women and 19 men, during a real and an imagined movement of the whole body. Results indicated also that, if subjects were told to modify their habitual focal points, important modifications in subjective feelings of instability, pleasure, and tension appeared.

Adolescent↗
PubMed1995

Childhood neuronal ceroid-lipofuscinoses in Argentina.

We report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985-1993 in Argentina, whose population is predominantly of European descent. Twenty-four cases were late infantile Jansky-Bielschowsky (LINCL) and 6 were juvenile Spielmeyer-Vogt (JNCL). Sex ratio was female:male, 20:10. Age range and mean at onset and at diagnosis for the LINCL cases were 1-6 years, mean 3.1, and 2-11 years, mean 5.5, and for the JNCL cases, 5-9 years, mean 7, and 9-18 years, mean 13, respectively. Cases were referred for biopsy after neurological examination, and most included complete electrophysiological [electroencephalography (EEG) with photic stimulation, electroretinography (ERG), and visual-evoked potential (VEP)], neuroimaging, and neurometabolic investigation. NCL was the first suspected clinical diagnosis, followed by mitochondrial encephalopathy in some cases of recent onset. Except for 1 case, clinical findings were homogeneous in LINCL, characterized by refractive epilepsy, mental regression and progressive deterioration, ataxia, myoclonia, and visual loss. Abnormal VEP, ERG, and EEG, with polyphasic high-voltage spikes when photic stimulation was performed at low frequency, were observed. Visual impairment and retinitis pigmentosa were early manifestations in 4/6 JNCL, followed by mental abnormalities, motor deterioration, and myoclonic jerks, while 2/4 followed an atypical course. In both variants inheritance was autosomal-recessive. Five out of 27 families had more than 1 affected member, 3 of whom were included in our series. Diagnosis was initially performed in conjunctival biopsy in 3 cases, skin in 5, muscle in 17, and brain in 5, though most cases had a concomitant biopsy from another tissue including nerve, and there was a single brain autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Gaze orientation in perception of reversible figures.

We hypothesized that during perception of reversible figures the direction of gaze toward a specific perceptual focal point plays a determining role in the identification of the images, i.e., when subjects are asked by the experimenter to perceive one of the two images, a displacement of the eyes toward a specific spatial area of the figure occurs. For each image we think there is a particular point of the figure which acts as perceptual organizer. The stimuli were the Hill and Boring, Ehrenstein, Rubin, and Schroeder reversible figures. Subjects were 47 undergraduate psychology students (32 women and 15 men). The number of ocular movements toward a different spatial direction were calculated for each suggested image of the reversing figure. Analysis showed that, in perceiving reversing figures, specific ocular displacements were present for each suggested image.

Adult↗
PubMed1994

A zoom lens before the eyes during imagery: individual differences and strange, unexpected responses.

The research examined some aspects of an hypothetical involvement of the eyes in the process of imagery and the individual differences in the modulation of the imagery-perception interaction of 59 (7 male and 52 female) undergraduate students in psychology. The subjects were asked to image with open eyes and to project, looking through a zoom lens, the "mental" image onto a white screen. While the subject was imaging, the experimenter moved the lever of the zoom lens in the direction of an hypothetical enlargement. This movement evoked different classes of responses: 46% of the subjects had a loss, even if for a short time, of the image, 37% of the subjects observed a strange and unexpected enlargement of the mental image, 7% did not observe any change in imagery, and 10% had other responses. A psychophysiological discussion concerned the strange phenomena observed in this research that have not yet been explored enough.

Adult↗
PubMed1994

Styles of interpersonal contact and muscular tone at rest of some muscles of the shoulder.

Styles of interpersonal contact are related, we hypothesized, to particular postural attitude showing the tendency to interact with or to avoid the environment. Those attitudes are expressed through myographic patterns. Now we examined the interpersonal contact styles and the muscular activity at rest (frequency and amplitude) of some muscles of the shoulders of 54 undergraduate women in psychology. All subjects declared they were right-handed. Increased myographic frequency seems associated with the perception of some levels of interpersonal barrier while increased amplitude seems to facilitate contact with other persons.

Adult↗