Biomedical subjects

M Pavoni

Publications and source records attributed to M Pavoni.

At least 19 recordsLinked to original sources

PubMed2004

Voriconazole proves effective in long-term treatment of a cerebral cryptococcoma in a chronic nephropathic HIV-negative patient, after fluconazole failure.

Although being a rare occurrence, brain cryptococcoma may represent an emerging issue, because of its relationship with a broadening range of risk factors, including malignancies, neutropenia, end-organ failure, bone marrow and solid-organ transplantation, and multiple underlying causes of primary-secondary immunodeficiency. A cerebral cryptococcoma in a chronic nephropathic HIV-negative subject with homocystinuria, completely cured with neurosurgery and voriconazole after fluconazole failure, is described.

Antifungal Agents↗

PubMed1999

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

Myotonic dystrophy (DM) is a multisystemic disease caused by expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3. The mechanism by which this expansion causes disease remains unknown. It has been suggested that CTG expansion not only affects the expression of the DMPK gene, but also alters the nuclear RNA metabolism and expression of neighboring genes. DMAHP, which is expressed in various human tissues, including skeletal muscle, heart and brain, is immediately distal to the 3' end of DMPK gene, in a CpG island which contains the CTG repeat. Here we report a 4- to 5-fold reduction of the expression of the DMAHP gene in different brain areas of DM patients. Our results demonstrate that [CTG]n expansion alters the brain DMAHP mRNA expression supporting a dominant-negative effect at the cellular level of DM [CTG]n mutation. The reduced brain expression of DMAHP could explain cerebral impairment in DM patients.

Brain Chemistry↗

PubMed1998

A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.

The myotonic dystrophy (DM) expansion varies from 50 to 4000 CTG repeats in the 3' untranslated region of the DMPK gene. Direct analysis by Southern blot, after restriction enzyme digestion of genomic DNA, is the method of choice for studying the DM mutation. A long polymerase chain reaction (PCR)-formatted protocol, which involved a single genomic in vitro amplification followed by high concentration agarose gel electrophoresis and oligo-specific hybridization, was used to amplify normal alleles and DM alleles in all examined ranges of expansion (up to 3,700 CTGs) starting from a small amount of genomic DNA (> or = 15 pg). This method is quick, sensitive, and reproducible and reduces the cost of diagnostic laboratory processing.

Alleles↗

PubMed1995

Expansion of a (CAG)n repeat region in a sporadic case of HD.

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene on chromosome 4. A simple polymerase chain reaction assay has been used for the assessment of the (CAG)n expansion in a 72-year-old woman with typical HD symptoms, but no family history of the disorder. The DNA analysis showed that the patient had an allele with 41 repeat units, in the size range seen in HD chromosomes. Therefore, HD diagnosis is confirmed in this seemingly sporadic case and the disease is newly diagnosed in a large family. The risk of inheriting this unstable expanded allele is discussed. INTRODUCTION--The discovery of an expansion of a trinucleotide (CAG) repeat region in the IT15 gene on the short arm of chromosome 4 has identified the mutational mechanism causing Huntington's disease (HD) and enables the direct diagnosis of affected subjects based on DNA analysis alone. Here a 72-year-old woman with typical HD symptoms, but no family history of the disorder, has been unambiguously diagnosed by using a quick DNA analysis. This is relevant because the disease is newly diagnosed in a large family. MATERIAL AND METHODS--A labelled polymerase chain reaction (PCR) test has been used to amplify the repeat region of the IT15 gene and DNA fragments were analyzed by Polyacrylamide gel electrophoresis. RESULTS--The number the CAG repeats in the proband displayed two alleles of 23 and 41 repeats, respectively. Since normal chromosomes are reported to contain 11-34 repeats, the clinical appearance of HD in the proband is explained by the presence of the repeat expansion. DISCUSSION--The parents of the proposita both died aged over 80 y apparently without neurological signs referable to HD. Hence, this is presumably a sporadic case of the disease. Because of the length of 41 repeats of this HD chromosome, offspring of this proband could inherit the expanded allele with 37 repeats, as expected for the reversal of the trinucleotide expansion. A subject with this intermediate allele could be affected, but would not be affected if the HD IT gene with reduced triplets had recovered its normal function. Thus, in a seemingly sporadic case like the one reported here, despite the PCR analysis, the risk of transmission of HD to her offspring may remain uncertain.

Aged↗

PubMed1993

An unusual case of epileptic transient aphemia. Clinical and neuropsychological findings.

A patient with unusually prolonged epileptic aphemic attacks following a surgical lesion in the left frontal lobe is described. Clinical, electroencephalographic and neuropsychological findings are reported. True aphemia is relatively rare and the described case affords the opportunity of emphasizing that a relatively rare disorder of language as aphemia might also occur with true epileptic attacks.

Adult↗

PubMed1991

Progression of optic neuritis to multiple sclerosis: a prospective study in an Italian population.

We prospectively studied 40 patients with uncomplicated optic neuritis (ON) to determine the risk of subsequent multiple sclerosis (MS). All patients were followed for at least 12 years. Ten patients (25%) developed MS. Seven of these 10 patients developed MS within 2 years. Both sexes were at high risk if ON occurred between the ages of 21 and 40. There was an overall increased risk of MS with recurrent ON. The course of MS appeared to be fairly benign during the period of observation.

Adolescent↗

PubMed1990

Epidemiologic approach to Huntington's disease in northern Italy (Ferrara area).

As part of a multidisciplinary study program, an epidemiological descriptive survey was carried out in the province of Ferrara, northern Italy. The temporal trend of Huntington chorea (HC) in the last century (1871-1987) was determined in the study area, and the patients and subjects at risk were identified with the aim of creating genetic advisory councils offering preventive interventions to eliminate the disease. The final study population consisted of 10 unrelated families with HC and 47 HC cases who lived in the province of Ferrara in the survey period. The estimate of the prevalence rate varied over the time period considered between 3.09 and 0.36 cases per 100,000 inhabitants. The temporal trend was characterized by increasing and decreasing phases, reflecting the incidence (varying between 0.20 and 0.00 annual cases per 100,000 inhabitants) and mortality (varying between 0.21 and 0.00 annual deaths per 100,000 inhabitants) rates. This trend shows that the frequency of HC in the study area was not stable. It was characterized by a cyclic course with a period of about 50 years. In the recent decades of the study, the incidence and the prevalence rates showed a relative increase. Thus, HC persists in the Ferrara population despite a greater public awareness and the recent lower birth rate. A new peak of prevalence is likely in the near future.

Adolescent↗

PubMed1987

Fitting growth curves to head and abdomen measurements of the fetus: a multicentric study.

Three different mathematical models were fitted to ultrasonic measurements of the biparietal diameter, head circumference, and abdomen circumference obtained from 1,426 healthy fetuses. The linear cubic function gives coefficients comparable with most previous studies, but it does not thoroughly explain fetal growth throughout pregnancy. Both the exponential-power function and the logistic-logarithmic function fit the raw data well and theoretically reflect the biological phenomena of human fetal growth. The characteristics of each model are discussed.

Abdomen↗

PubMed1983

A descriptive study of epilepsy in the district of Copparo, Italy, 1964-1978.

Worldwide investigation of the epidemiology of epilepsy has suggested wide variations in the frequency of convulsive disorders. However, descriptive studies in general populations cannot be completely comparable because of a remarkable methodological dishomogeneity in definition of epilepsy, classification of seizures, and ascertainment, collection, and selection of the cases. The position with regard to the Mediterranean people was still little known, and the few studies presently available from Italy offer underestimates of epilepsy frequency owing to incompleteness in case-collection practices and lack of information about the incidence of the disease. Therefore, to verify the true frequency of epilepsy in our country, we performed a community-based epidemiologic study of convulsive disorders in the district of Copparo (population 45,153) in northern Italy. Based on 278 accepted cases with "active" epilepsy, the prevalence per 1,000 population on December 31, 1978, was 6.2 (6.4 if standardized to the Italian population). The average annual incidence for the period 1964 through 1978 was 33.1 per 100,000 (38.3 if standardized). These results, similar to those found in other Western countries, support the view that the frequency of epilepsy in Italy as a whole is higher than that indicated by the Italian studies previously published, and suggest that epilepsy is evenly distributed in Europe and the United States. Antecedents which could be considered potential causes of epilepsy were found in 39.6%, and in 39.1% of the prevalence and incidence cases, respectively; for both prevalence and incidence groups, perinatal brain injuries were the most frequent event. This high proportion of epileptic cases with underlying causes emphasizes the urgency of planning precautionary measures in Italy to improve prenatal and perinatal medical care.

Adolescent↗

PubMed1981

Neurosyphilis today.

14 cases of tabes dorsalis, 4 cases of dementia paralytica, 3 cases of lues cerebri, and 1 case of syphilitic meningomyelitis are reported as observed over a 10-year period (1967-1976). Tabes has the peculiarity of revealing itself with pictures characterized by scarcity and mildness of objective neurological manifestations. Dementia paralytica, cerebral meningo-vascular syphilis and spinal syphilitic meningomyelitis remain constant in that they still present typical pictures, i.e., those which are classically described in early literature. In our neurosyphilitics, the most vulnerable average age for the late luetic manifestations in the nervous system in 50 years. In most of the patients examined, changes of the histochemical composition of cerebrospinal fluid are present. The colloidal benzoin test that, in almost all the cases, reveals itself by pathological precipitations is extremely important for a correct diagnosis. In more than one third of the 22 neurosyphilitics examined, all the non-treponemal serological reactions are negative both in the blood and in the cerebrospinal fluid. On the contrary, we assign a greater diagnostic importance to TPI and FTA test, which give positive results in the blood in 65 and 70% of the cases, respectively.

Adult↗

PubMed1980

Emotional and psychotic reactions induced by aphasia.

A systematic study of the emotional and psychotic reactions induced by aphasia was conducted on 63 aphasic patients. 'Indifference reaction' was found in 19 cases and 'depressive reaction' in 36 cases. In 3 aphasics, we observed 'Goldstein's catastrophic reaction' and in 3 other patients, a state of 'euphoric unrestrained excitement'. Finally, in 2 aphasics 'psychotic reaction' was found, characterized by a state of psychomotor catatonic excitement. The hypothesis is advanced that the catatonic phenomenology of these subjects may be interpreted as 'Bonhoeffer's acute exogenous reaction' with catatonic symptoms.

Affective Symptoms↗

PubMed1978