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Biomedical subjects

M G Torrioli

Publications and source records attributed to M G Torrioli.

16 recordsLinked to original sources
PubMed2003

Conversion reaction presenting as a polyradiculonevritis.

AIM: To show that conversion reactions should be suspected when symptomatology or instrumental checking does not conform to a precise pathological pattern in its anatomical and physiological keys. METHODS: We report the case of a 14-y-old girl who presented with signs and symptoms of Guillain-Barré polyradiculonevritis. Negative instrumental and laboratory tests led us to consider a possible diagnosis of conversion reaction. RESULTS: After a more detailed history emphasizing the close bond between the patient and her father, a poor peer-relation exchange and psychological stress, we were able to identify conversion reactions through the patient's motor signs. CONCLUSION: Conversion symptoms must be suspected and searched for when the neurologic outline is difficult to clarify, and also in the case of Guillain-Barré syndrome that does not respond to plasmapheresis.

Adolescent↗
PubMed2001

[L-acetylcarnitine treatment on fragile X patients hyperactive behaviour].

Hyperactivity is a significant problem for almost all young males affected by fragile X syndrome (FXS), the most common inherited disease causing mental retardation. Therapeutical approaches are actually based on Central Nervous System (CNS) stimulants lacking a well defined rationale and efficacy while they further decrease the patient's limited attention span. A pilot study on 17 fragile X male treated with L-acetylcarnitine (LAC) over one year, showed a significant reduction of their hyperactivity behaviour tested by the Conners Abbreviated Parent-Teacher Questionnaire. LAC use in FXS patients derives from the hypothesis that the biochemical and physiological properties this substance has may preserve brain activity. LAC is a small, hydrosoluble molecule that easily diffuses in the extracellular space and enters any cell in the nervous system through specific transporters. Different cerebral areas use this molecule differently to metabolize glucose and lipids to provide for ATP and neurotrasmitters synthesis. The acetyl group LAC carriers represents a key metabolic signaling element possibly mediating its effect in the CNS. The exogenous administration of LAC may affect brain activity in FXS by: I) modulation of fuel partitioning for energy production, which at the mithocondrial level is associated with the Kreb's cycle metabolic role in neurotransmitter synthesis; II) remodelling of lipid membrane in terms of LAC actively determining the production of polyunsaturated fatty acids; III) preferential effect on the attention component of the cholinergic system which relies on its peculiar modality of communication in the CNS. Based on the above premises an explorative, double-blind, placebo controlled, multicenter study is ongoing. A total population of 160 children from nine European centers will be enrolled. The objective of this study is to determine the effect of LAC on the hyperactive behaviour of FXS children as evaluated by the administration of the Conners Abbreviated Parent Questionnaire.

Acetylcarnitine↗
PubMed2000

Perceptual-motor, visual and cognitive ability in very low birthweight preschool children without neonatal ultrasound abnormalities.

Thirty-six children born preterm with very low birth weight without neonatal brain disorders and normal cerebral ultrasound findings were examined at pre-school age: visual, perceptual motor, attention, behaviour and cognitive assessments were performed in the study group as well as in a control group of term children matched for age, sex and parental educational and occupational status. The results showed a significant lower scoring in perceptual motor skills in the study group, associated with a defect of accuracy in spatial attention and a higher incidence of stereopsis impairment related with perceptual motor disabilities. Behavioural disorders, in terms of emotional maturation and hyperactivity, were significantly more frequent in the study group. To prevent behavioural and learning problems at school, a complete longitudinal assessment including visual functions and perceptual motor abilities seems mandatory in preterm born children, even in the absence of neonatal brain disorders including abnormal cerebral ultrasound findings.

Attention↗
PubMed1998

Linguistic and non-linguistic abilities in a patient with early left hemispherectomy.

A patient who underwent early removal of the left hemisphere because of Sturge-Weber syndrome was submitted to detailed linguistic and visuospatial batteries. The performances were compared to performances of subjects matched for age, education and IQ, but without focal cerebral lesions. Language was mildly impaired but to the same extent as in IQ controls. On the contrary, visuospatial abilities were clearly worse than in IQ controls, and the most preserved visuospatial abilities seemed to be the less sophisticated ones. Non literal comprehension of language, a function generally attributed to the right hemisphere, was intact. This same pattern, that is, preservation of language and impairment of visuospatial abilities, also seems to occur in subjects who have undergone surgical removal of the right hemisphere; in other words, the cognitive pattern seems the same regardless of which hemisphere is removed. These observations suggest that no matter which hemisphere is removed, functional reorganisation follows a hierarchical criterion which privileges the linguistic function, and the visuospatial functions most essential for independent survival.

Adolescent↗
PubMed1997

Opitz C trigonocephaly syndrome and midline brain anomalies.

We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.

Agenesis of Corpus Callosum↗
PubMed1996

Brain-stem somatosensory dysfunction in a case of long-standing left hemispherectomy with removal of the left thalamus: a nasopharyngeal and scalp SEP study.

We have studied median nerve somatosensory evoked potentials (SEPs) in a patient who had undergone early surgical removal of the left cerebral hemisphere and left thalamus. Stimulation of the right side evoked normal latency P9, P11 and P13 potentials at scalp as well as at nasopharyngeal (NP) leads, while P14 and N18 potentials were absent. These SEP abnormalities, that have been described previously in cervico-medullary lesions and in comatose patients with upper brain-stem involvement, suggest that in our patient the removal of the left thalamus has caused retrograde degeneration of the cuneate-thalamic projections. Moreover, this study confirms that P13 and P14 potentials have different generators.

Adolescent↗
PubMed1988

Sleep in babies born to chronically heroin addicted mothers. A follow up study.

The effects of chronic addiction to, and withdrawal from, opiates on sleep have been described in experimental animals, in human adults and infants born to addicted mothers. These sleep alterations are seen through the first weeks of life. Thirteen maternally addicted babies were studied. Sleep samples were recorded and scored within a few days following birth and repeated 4 or 5 weeks later after recovery from the abstinence syndrome. A significant decrease in quiet sleep and increase of active sleep were found. The same alterations, although less marked, were observed in a follow up recording performed during the second month of life. Sleep alterations in addicted newborns could be related to central nervous system (CNS) distress caused by withdrawal. The authors however propose a perturbation of endogenous opiates subsequent to fetal addiction as a cause of sleep alterations.

Adult↗
PubMed1986

Fetal addiction to methadone: postnatal abstinence syndrome and development of visual evoked potentials.

Female rats were given different doses of methadone for the whole duration of pregnancy. The effects of methadone on birthweight and abstinence syndrome were studied from birth to maturation. Visual Evoked Potentials (VEP) from onset to 90 days of age were studied with averaging and frequency analysis techniques. The intensity of the withdrawal syndrome was dependent on the doses of the drug administered to the mothers, but not on the postnatal therapy (phenobarbital or methadone) administered to offspring. VEP latencies and amplitudes were not affected by fetal addiction to methadone. Thus, any long lasting alteration of spontaneous and evoked electrical activities in the visual system of fetal addicted young rats can be excluded. Only transient slight alterations of visual evoked responses are observed during the abstinence syndrome.

Animals↗
PubMedDate not supplied

[Neurologic pathology in the neonatal period: relation to birth weight and gestational age].

Six Italian university centers have taken part in the Perinatal Preventive Medicine Project of the National Research Council since 1973. In this report the preliminary data on neonatal neurological disorders of 38775 single not malformed infants are presented. Neurological abnormality has been defined by the presence of at least one of the following symptoms: seizures, hypertonia, hypotonia, apneic spells. The relative frequencies of seizures vary from a minimum of 0.28% to a maximum of 0.75% in the six centers. The frequencies of the other symptoms demonstrate a greater variability among centers. Males are more affected than females. The relative frequency of neurological abnormalities is higher among babies with low birthweight, short gestational age or retarded intrauterine growth. Also, the frequency of seizures is higher among babies with low birthweight or retarded intrauterine growth while the relationship between seizures and gestational age is not clear.

Apnea↗