Biomedical subjects
Publications and source records attributed to S Baldini.
Cases are described with Leber's optic atrophy and neurological symptoms and/or MRI lesions suggestive of multiple sclerosis. We describe a case of a young woman with Devic's neuromyelitis optica and 3460 homoplasmic mitochondrial DNA mutation.
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OBJECTIVES: Health related quality of life (HRQOL) inventories are multi-dimensional measures of patient-centred health status developed for clinical research. The MS quality of life 54 (MSQOL-54) is an MS-specific HRQOL inventory originally devised for English speaking patients. It consists of a core measure, the 36-item short form health survey (SF-36) previously adapted into Italian, and 18 additional items exploring domains relevant to patients with MS (MS-18 module). The authors translated and culturally adapted into Italian the MS-18 module of the MSQOL-54 questionnaire, and clinically validated the whole questionnaire. METHODS: The MS-18 module was translated following the methodology of the International Quality of Life Assessment (IQOLA) project. The MSQOL-54 was validated in 204 consecutive patients with MS seen between April and September 1997 at three participating centres. The questionnaire was explained by the physician who also administered the expanded disability status scale (EDSS) and mini mental status scale examination, and the patient filled in the MSQOL-54 and Beck depression inventory questionnaires (BDI), with assistance if required. The contribution of impairments and disabilities to MSQOL-54 scores were assessed, and mean scores were compared with normative data for the general Italian population, and with the original sample of United States MS patients. RESULTS: The mean age of the 204 patients was 42 years; mean EDSS score was 4.5 (range 0-8. 5). Patients' participation in the assessment was satisfactory, and all scales satisfied the usual psychometric standards. The characteristics of the United States sample matched those of our patients in all but gender (72% United States patients v 52% Italian patients were women), and education (90% United States patients and 44% Italian patients completed high school); MSQOL-54 profiles were also similar. The EDSS was significantly associated with the physical health composite but not with the mental health composite score. Multiple linear regression modelling showed that age and BDI independently predicted physical health composite (p < 0.001), and mental health composite (p < 0.001). Clinical worsening in the previous year had an independent effect on the physical health composite (p < 0.001). CONCLUSIONS: The Italian version of MSQOL-54 is easy to administer and is well accepted by patients. Neurological impairment has a limited influence on perceived quality of life, while age and depressive symptoms has a major influence.
Motor evoked potentials were recorded from lingual muscles by means of clip electrodes applied on the lateral side of the tongue, following transcranial magnetic stimulation and peripheral electrical stimulation of the 12th cranial nerve at the mandible jaw. Using a circular coil, the stimulation of the cerebral cortex elicited a response of about 8 ms: its amplitude was higher in the right tongue placing the coil over the contralateral hemisphere, 4 cm from the vertex, with coil currents flowing counterclockwise. Coil position and current flow direction did not significantly modify the characteristics of responses recorded from the left side. The separate stimulation of either hemisphere was better obtained using an 8-shaped coil. The latency of the motor response measured 7.7-8.0 ms, the amplitude was greater on stimulation of the contralateral than the ipsilateral hemisphere and was larger recording from the right (3.3 +/- 1.1 mV) than from the left (1.2 +/- 0.7 mV) side. Positioning the circular coil over the parieto-occipital skull, a response of 4.1 +/- 0.3 ms was obtained, reflecting the intracranial activation of the hypoglossal nerve. The peripheral stimulation at the mandible elicited a response of 3.2 +/- 0.5 ms. The method described appears simple and reliable, potentially helpful in clinical practice.
Pudendal evoked potentials, motor evoked potentials of the bulbocavernosus muscle to magnetic stimulation and bulbocavernosus reflex were recorded in 34 patients with multiple sclerosis (MS). Responses were delayed in 26, 20 and 3 cases respectively. No relationship was found between neurophysiological abnormalities and the presence or severity of erectile dysfunction, showing that these tests have little diagnostic usefulness in MS patients with impotence. Nocturnal penile tumescence was assessed in 14 cases: the test result was normal in 10 patients, including 3 severely paraplegic subjects.
To date, Doppler US has been rarely used to diagnose chronic renal transplant rejection because of its low sensitivity. Nevertheless, all the results have been obtained from the analysis of flow-metric indices, mainly considering the diastolic phase of the Doppler waveform, e.g., the resistance index (RI) and the pulsatility index (PI). This study was aimed at investigating if Doppler diagnostic accuracy in renal transplant monitoring can be increased by studying the systolic phase, considering peak arterial systolic velocity (Vp), acceleration time (AT) and acceleration index (AI). Seventy-six renal transplant recipients were examined with color-Doppler and duplex Doppler US, which showed 47 well-functioning and 29 hypofunctioning kidneys. The diagnosis was confirmed with perfusion scintigraphy with 99mTc DTPA, biopsy and 6-month clinical-laboratory follow-up. The means of Vp, AI, AT and RI relative to the group of patients with normal renal function were compared with those in the group of patients with chronic rejection. Critical values were measured at the segmental arteries (Vp = 70 cm/s, AI = 7 m/s2, AT = 100 ms), at the interlobar arteries (Vp = 45 cm/s, AI = 4 m/s2, AT = 100 ms) and at the arcuate arteries (Vp = 35 cm/s, AI = 3 m/s2, AT = 100 ms). On the basis of these values, normal functioning transplants were differentiated from hypofunctioning ones. RIs were altered (> 0.75) in 8 of 17 chronic rejections and in 3 of 47 normal transplants, with 47.1% sensitivity and 93.6% specificity. The combination of RI with Vp and AI strongly increased both sensitivity (100%) and specificity (82.98%). Combined AI and RI exhibited 94.1% sensitivity and 89.3% specificity. In conclusion, the indices of the ascending systolic phase, in peripheral vascular samplings, are clearly more efficacious than RI alone and index combination exhibits the highest diagnostic accuracy.
On the present study the authors evaluate the utility of electrophysiologic examination in uraemic polyneuropathy. A group of 19 uraemic patients in chronic dialysis underwent the Blink reflex and BAEPSs study to evaluate the alterations of nervous pathways. The results obtained were compared with those of a group of 10 healthy patients comparable for age and sex. The electrophysiologic parameters have been statistically compared with the plasma levels of vit. B12. folic acid, PTH and beta-2-microglobulin. The results show a significant difference of uremic patients compared with the healthy ones for the Blink reflex (ipsilateral and contralateral R2 responses). Also BAEPSs show significant alterations in the uraemic group (latencies of the III, V components). A statistically significantly inverse correlation is present between folic acid values and blink reflex R1 and R2 responses. Therefore our study shows the existence of a combined degeneration of central and peripheral nervous pathways in chronic uraemic patients. We believe that the decrease in folic acid concentration found in our study may be one of the causes of the beginning and then of the worsening of neurologic damage.
INTRODUCTION: The nervous system is affected in 30% of hereditary monogenic disorders and as many as 500 single-gene disorders display major neurologic symptoms. We have studied the frequency of hereditary neurological diseases to assess their importance in daily hospital activity. Only single-gene hereditary diseases with central or peripheral nervous system involvement were considered; thus chromosomal diseases and diseases with multifactorial etiology were excluded. METHODS: We surveyed admission to in- and out-patient departments of Neurology, Pediatrics, and Dermatology of the Aosta Regional Hospital for the calendar years 1982-1991, collecting 229 cases, 95 women and 134 men. Out-patient departments held 126 patients, the others came from in-patient departments. Admission to the neurological in-patient department were 1.8% of total neurological admissions in the same period. Each diagnosis was assigned to the code number of the International Classification of Diseases (ICD-IX Revision, 1975). RESULTS: We found 33 different phenotypes. Most frequent diagnoses were: essential tremor (89 patients), hereditary sensory-motor neuropathy (HSMN) type I (28), Huntington's chorea (13), progressive muscular dystrophy limb-girdle type (8), neurofibromatosis type I (9), HSMN type II (9), spinocerebellar ataxia (9), hereditary spastic paraplegia (7), spinal muscular atrophy type IV (5), myotonic dystrophy (5), cerebellar ataxia (4), HSMN type III (4), spinal muscular atrophy type II and III (3), tuberous sclerosis (3). Essential tremor mostly affected persons in the over-50 age groups. On the contrary, the other neurologic monogenic diseases were diagnosed in all ages with the following age-group breakdown: 0-9, 11%; 10-19, 16%; 20-29, 15%; 30-39, 8%; 40-49, 11%; 50-59, 19%; 60-69, 14%, 70+, 7%. Consistently with the general rule, autosomic recessive diseases have the earliest onset and autosomic dominant ones the latest; HSMN, spinal muscular atrophy and Huntington's chorea were the disorders diagnosed in older age group. DISCUSSION: Although the frequency of the single neurologic monogenic disease is low (with the exception of essential tremor), their overall prevalence is higher than the prevalence of multiple sclerosis or the peripheral neuropathies. All age-groups are involved. We separated three groups of diseases: 1) two relatively benign diseases, essential tremor and the HSMN, affecting half of our patients; 2) five severe and more common diseases (Huntington's chorea, progressive muscular dystrophy limb-girdle type, neurofibromatosis type I, spinocerebellar ataxia, hereditary spastic paraplegia), affecting 1/4 of patients; and 3) a group of rare, mostly severe diseases, affecting the remaining 1/4 of patients.
We studied to evolution of nerve conduction during hemodialysis following 21 patients with chronic renal failure. Mean motor nerve conduction velocity (MCV) was significantly different at hemodialysis onset and 3 years later for both common peroneal nerve (44.5 and 41.0 m./sec.) and ulnar nerve (52.5 and 47.1 m./sec.). MCV decreased more in patients with low Kt/V (a depuration index) than in those with high Kt/V.
The risk that antiepileptic drugs may cause damage to the peripheral nervous system led us to investigate 12 patients on carbamazepine and 12 patients on phenobarbital with the thermal threshold test. The heat and cold thresholds were measured at the ankle and wrist and, compared with those in 30 healthy subjects, they proved to be significantly higher. When the two groups of epileptics were compared separately with the controls, their thresholds were always higher. These findings are consistent with a toxic effect of both drugs on fine peripheral nerve fibers.
Pure Word Deafness is a clinical syndrome included among the aphasias and is marked by complete deafness of sudden onset with conserved ability to understand and read the written word and with no speech disorders. We report the case of 61 year old man in whom pure word deafness developed after two episodes of acute cerebral ischemia in quick succession. Neuroimaging procedures, that is: computed tomography scan, single photon emission computed tomography and magnetic resonance imaging, revealed the presence of two ischemic lesions in the temporal cortex bilaterally. Neurophysiological investigations (electroencephalogram, brainstem auditory evoked potentials and stapedial reflex) were also studied. We discuss the outcome of all these investigations in the light of the relevant published work.
Thymopentine is a synthetic immunomodulator that positively affects T-lymphocyte maturation, reproduction and differentiation. In elderly uremic patients nonresponders to hepatitis B vaccine, the administration of this drug has been shown to improve the response to the new vaccination.
The study of ocular movements has been increasingly used to detect subtle pathological modifications, caused by a wide variety of neurological diseases. We have developed a new microcomputer-based method for the analysis of smooth-pursuit ocular movements induced by constant velocity targets moving unpredictably at different velocities (including velocity values as high as 100 deg/s). The ocular movements are recorded by an electro-oculographic technique using silver-silver chloride electrodes fixed near the inner and outer canthi of both eyes. The signals are amplified by two DC amplifiers after a low-pass filtering (50 Hz), sampled at 250 Hz and digitized in a 12-bit form by an analog/digital converter. For each patient's evaluation, a series of 20 sweeps of the target is generated. The data analysis, which is performed automatically by the microcomputer, is based on the calculation of four parameters: average peak eye velocity (APEV); typical target velocity (TTV); percent target matching index after saccade removal (PTMI); typical matching target velocity (TMTV) after saccade removal. APEV is calculated as the average of the peak velocities estimated from the 20 sweeps. The purpose of TTV, which is defined as the value of target velocity at which the percent gain has decreased to slightly more than one third of the maximum percent gain, is to provide an overall index of the rate at which the percent gain decreases as the target velocity increases. PTMI describes the eye performance for each value of target velocity.(ABSTRACT TRUNCATED AT 250 WORDS)
Saccadic eye movements are rapid shifts in the direction of gaze which are being studied increasingly for clinical and pharmacological purposes. The evaluation of the relationship between amplitude and peak velocity of these ocular movements (the so-called 'main sequence' plot) is particularly useful for characterising the saccade pattern in individual patients. This relationship is nonlinear and the peak velocity tends to achieve an asymptote for high values of amplitude. Since a standard parametrisation of the main sequence based on specific mathematical models has not yet been achieved, in the present study two simple models based on the Michaelis-Menten equation and on an exponential equation are proposed together with their implementation on a microcomputer. Two microcomputer programs are described which estimate the model parameters from the experimental data of the patients using a weighted nonlinear least-squares fit. The two procedures have been tested and compared in a series of 23 healthy volunteers. The following results (mean +/- S.D.) were obtained: Michaelis-Menten model. Km (degrees) = 31.2 +/- 7.7, Vmax (degrees/s) = 841.0 +/- 165.5, root-mean-squared error(%) = 6.0 +/- 1.6; exponential model. K (degrees) = 23.4 +/- 4.6, Vmax (degrees/s) = 578.0 +/- 97.4, root-mean-squared error(%) = 5.4 +/- 1.6. The two techniques of parametrisation provided similar indices of intra-individual variability in 4 healthy volunteers. In conclusion, our methods for saccade parametrisation can be regarded as simple but efficient tools for facilitating research on these ocular movements.
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Human recombinant erythropoietin constitutes a remarkable improvement in the treatment of uraemic anemia. Nevertheless, it causes haemorheological changes, which in turn may affect smaller blood vessel circulation. Our study was conducted on a pool of chronic uraemic patients under hemodialytic treatment who were given erythropoietin therapy. Substantial increases in overall blood viscosity and red cell aggregation were recorded, with no change in erythrocyte deformation. An increase in cardiovascular morbidity might occur in these patients who are already liable to this condition. Several years will have to elapse and thorough studies will have to be conducted on a large number of patients, to have conclusive evidence on this point.