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Biomedical subjects

S Rolando

Publications and source records attributed to S Rolando.

At least 19 recordsLinked to original sources

[Tic disorders in children and adolescents. Clinical and genetic features, comorbidity].

UNLABELLED: Tic disorders in children and adolescents. Clinical and genetic features, comorbidity. BACKGROUND: Aim of the study is to evaluate the clinical and genetic characteristics of tic disorders, in view of individuating similarities or differences relevant to the prognosis among different nosological groups. METHODS: A retrospective study of 79 children and adolescents (average age 9.3 yrs) was performed. The cases were diagnosed according to DSM-IV as: transitory tics (TT) 13 cases; chronic tics (CT) 50 cases; Tourette disease (TD) 16 cases. They were compared to a control group of 18 school age children without any neurological or psychiatric disturbance. The study included: semi-structured interviews focused on natural history of the disturbances, familiarity, presence of perinatal pathology, comorbidity; neurological examination, EEG, psychodiagnostic tests and investigation. RESULTS: Mean age of onset and type of first symptoms are the same in the three groups. Compared to the control group there is a significant increase in: familiarity for tics disturbances in TD; presence of perinatal pathological factors in the three groups of patients; comorbidity for obsessive-compulsive disorder (OCD) in CT and TD, comorbidity with ADHD in CT group. Three clinical cases are reported to exemplify the mixed features in the families and the different responsivity to the pharmacological treatment.

Adolescent↗

[Continuous parascalene block for shoulder surgery].

OBJECTIVE: To evaluate the efficacy and incidence of side effects of parascalene brachial plexus block for shoulder surgery and for postoperative analgesia. PATIENTS AND METHODS: This prospective descriptive study enrolled 186 patients scheduled for conventional (open) and arthroscopic shoulder operations. The parascalene approach to the brachial plexus was used, with an 18-G x 4.5 cm cannula (30 degrees bevel), applying the technique of detecting perforation of the prevertebral fascia. Mepivacaine 1.5% was administered for anesthesia, beginning with a test dose of 5 ml followed by doses of 25 ml. Bupivacaine 0.125% with 1/400,000 adrenaline was given for postoperative analgesia. Two groups were established according to type of surgery. In group A were patients undergoing open surgery and those with articular stiffness undergoing arthroscopic surgery; analgesics were delivered in continuous perfusion of 5 to 8 ml/h. Group B patients, who underwent arthroscopic surgery, received the analgesic in boluses of 10 to 14 ml every 4 to 6 hours. We assessed perception of perforation of the fascia, provocation of paresthesia, number of puncture attempts, anesthetic efficacy, postsurgical analgesia (visual analogue scale from 0 to 10) and complications. RESULTS: Blockade was effective for 155 of the 186 patients (83.33%). In 118 (63.44%) the perception of perforation of the prevertebral fascia was ostensible, in 52 (27.95%) it was slight and in 16 (8.6%) it was undetectable. Paresthesia was triggered by the cannula in 18 cases (9.13%) and by the test dose in 181 cases (97.31%). The mean number of puncture attempts was 1.2 +/- 0.09 per patient. During the early postoperative period analgesia was adequate for 92 (84.40%) of the 109 patients in group A. In group B, 45 patients (97.82%) required 1 to 2 analgesic doses (mean 1.4 +/- 2 doses) and one patient (2.17%) needed 6 doses within the first 24 hours. Catheters remained inserted as long as 36 hours to 10 days (mean 3.5 days) in group A. In group B they had been removed by 24 hours. Complications were transitory and slight. No cases of pneumothorax, no intra- or epidural anesthesia was required and no instances of vascular puncture occurred. CONCLUSIONS: The parascalene approach is easy to use and entails few risks while providing excellent anesthetic conditions for open and arthroscopic shoulder operations. It is useful for ambulatory analgesia to facilitate early rehabilitation after surgery.

Adult↗

Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases.

We describe 3 patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs). Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy (HMSN). The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. Sural nerve biopsy revealed a demyelinating process with prominent hypertrophic changes and excessive MOs formation. The percentage of MOs was significantly higher than in 3 age-matched HMSN Ia patients. MOs were morphologically and morphometrically different from tomacular-like thickenings of myelin. Myelin thickness was significantly lower than in the three HMSN Ia controls and linear regression showed a thinner myelin related to axon diameter. The reported cases demonstrate that HMSN with MOs is a well defined variant of HMSN and that a primary defect in the myelination process may be proposed as a possible pathogenic mechanism.

Adolescent↗

Late onset globoid leukodystrophy: unusual clinical and CSF findings.

During a febrile upper respiratory tract illness this 4 year old boy developed left hemiparesis, which progressed to loss of walking and even of sitting finally to tetraplegia. The cerebrospinal fluid protein pattern showed blood-brain barrier damage with additional intrathecal IgG synthesis. The symptoms responded to steroid therapy but resumed and worsened on withdrawal. Only late, when visual evoked potentials and nerve conduction velocity proved to be impaired, was Krabbe disease diagnosed on the assay of cultured fibroblasts for galactocerebroside-beta-galactosidase. We discuss the significance of possible endogenous production of IgG in the CNS.

Child, Preschool↗

Child ataxias: a developmental perspective.

In children, the conditions defined as "ataxia" form a very heterogeneous group. They also often differ from the "ataxias" of adults. In many cases this can be attributed to their different etiology, but probably it is also due to the peculiar functional and physiopathologic characteristics of the cerebellar system during the developmental period. In this article we will attempt to critically analyze this subject, with reference to the data published in the literature, to the results of experimental neurophysiologic investigations and, in part, to our own clinical observations.

Ataxia↗

[Scoliosis and lateral gaze paralysis. Description of a case and review of the literature].

The paper reports the case of a girl affected by progressive scoliosis and paralysis of the horizontal gaze, and reviews previously published cases. This is a rare and little known neurological entity transmitted by recessive autosomal inheritance. To all effects, this appears to be the first report of an Italian case. A correct early diagnosis is of considerable importance in view of appropriate genetic counselling.

Child, Preschool↗

Computed tomography (CT) in children with herpes simplex encephalitis.

Computed Tomography (CT) scans were obtained from nine infants with herpes simplex virus encephalitis (HSE). The early CT findings were generalized or localized edematous change and a mass effect was also seen in two cases. In the follow-up study two patients showed bilateral gyriform calcification, a rare occurrence in association with intracranial infection. The appearance of multicystic encephalomalacia was evident in one patient 3 months after the onset of disease. It is shown that the CT findings of neonates and young children with HSE are different from those of adults.

Child↗

Peripheral neuropathy in Cockayne syndrome.

Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear. The presence, in addition, of small finely lamellar intra-axonal osmiophilic bodies suggests an associated axonal involvement.

Child↗

Rett syndrome: report of eight cases.

The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological signs such as ataxia, myoclonus and hyperreflexia. Normal head circumference at birth, but subsequent subnormal growth. EEG abnormalities. Slow progression of the disease after the period of rapid deterioration. The constellation of the signs and symptoms, and the occurrence only in girls, make this clinical picture quite distinct. There is no definitely known biochemical or chromosomal abnormality. The psychological profile, though homogeneous in all the patients, is not pathognomonic, and a very similar behavioral pattern can be observed in other organic brain syndromes.

Adolescent↗