Biomedical subjects

F Salvi

Publications and source records attributed to F Salvi.

At least 55 records · Page 3Linked to original sources

PubMed1999

Do acute lesions of Wernicke's encephalopathy show contrast enhancement? Report of three cases and review of the literature.

Contrast medium was given intravenously to three nonalcoholic patients who underwent MRI or CT in the acute stage of Wernicke's encephalopathy. Lesions enhancement was not seen in one patient examined within 4 days of clinical onset, was mild in a another 3 days after clinical deterioration and marked in a patient examined 12 days after admission. Contrast enhancement of lesions was present in half of 12 cases of acute disease reported previously. There was a substantial overlap in the time interval between clinical onset and contrast-enhanced CT or MRI in the groups of enhancing and nonenhancing lesions. Since contrast enhancement may be absent in acute WE, proton-density and T2-weighted images are more useful for diagnosis of this reversible but potentially fatal condition.

Acute Disease↗

PubMed1999

Optic neuropathy in Behçet's disease. Report of two cases.

Orbital magnetic resonance imaging demonstrated increased signal of the optic nerve in short time inversion recovery (STIR) images of two young women with unilateral visual blurring. In both, recurrent oral and genital ulcerations and papulopustular lesions appeared within the next 14-15 months, respectively, allowing a diagnosis of Behçet's disease. Optic neuropathy may be an early manifestation of Behçt's disease and clinical follow-up is crucial for its diagnosis.

Adult↗

PubMed1999

Orbital (desmoid type) fibromatosis.

A case of extra-abdominal fibromatosis (EF) of the orbit is described in a 35-year-old man presenting with progressive exophthalmos, right ptosis and diplopia. MRI showed an orbital mass of intermediate signal in T1-weighted images (WI) and low signal in T2WI, which enhanced non-homogeneously after contrast injection. The histological diagnosis of EF was made and the lesion was surgically removed. No recurrence occurred in 40 months of follow-up.

Journal Article↗

PubMed1999

A novel promoter variant of the natriuretic peptide clearance receptor gene is associated with lower atrial natriuretic peptide and higher blood pressure in obese hypertensives.

OBJECTIVE AND DESIGN: The clearance receptor for natriuretic peptides (NPRC), a candidate gene for essential hypertension, is highly expressed in adipose tissue, where is nutritionally regulated. The objectives of the present study were to sequence the human 5'-flanking regulatory region of NPRC, to identify allelic variants and their frequencies, and to study the genotype/phenotype correlation in hypertensive patients. METHODS AND RESULTS: Using polymerase chain reaction (PCR) and direct automated sequencing, a biallelic (A/C) polymorphism was detected at position -55 in a conserved promoter element named P1. The novel C(-55) variant makes the promoter sequence identical to the mouse gene and introduces a second Hgal site in the amplified DNA, allowing the genotyping of a large number of subjects. In a random sample of 232 white Caucasians the C(-55) allele was more commonly found (81.7% of all alleles) with 155 CC (66.8%), 69 AC (29.7%) and only eight AA (3.5%) genotypes. Atrial natriuretic peptide (ANP) levels were determined in 84 patients with essential hypertension. In the presence of obesity (body mass index (BMI) > or = 30 kg/m2) the homozygous CC hypertensives (n = 21) had significantly lower plasma ANP (33.6 +/- 11.1 pg/ml) compared with the AC patients (n = 11; 46.8 +/- 15.9 pg/ml; P = 0.01), whereas systolic blood pressure (SBP) and mean blood pressure (MBP) had the opposite association (SBP 163.9 +/- 18.7 versus 150.9 +/- 12.9 and MBP 123.3 +/- 12 versus 114.5 +/- 5.9 mmHg; P< 0.05). The difference in ANP levels were also present when overweight patients (BMI > or = 27 kg/m2) were considered. CONCLUSION: A common 'ancestral' C(-55) variant of the NPRC P1 promoter is associated with lower ANP levels and higher SBP and MBP in obese hypertensives. The C(-55) variant, in the presence of increased adiposity, might reduce plasma ANP through increased NPRC-mediated ANP clearance, contributing to higher blood pressure.

Adult↗

PubMed1999

Expanding lacunae causing triventricular hydrocephalus. Report of two cases.

Two patients are reported in whom the presence of triventricular hydrocephalus and aqueductal obstruction or stenosis due to multiple expanding lacunae in the mesencephalothalamic region possibly corresponds to abnormally dilated perivascular spaces. Placement of a ventriculoperitoneal cerebrospinal fluid (CSF) shunt in one patient and the performance of a third ventricle cisternotomy in the other reversed the hydrocephalic syndrome, but did not modify the complex neuroophthalmological disturbance and rubral tremor presumably related to the compressive effects of the lacunae on adjacent parenchyma. In one patient the number and size of the lacunae were increased 4 years after CSF shunt placement. A review of the literature revealed two cases in which magnetic resonance imaging demonstrated a similar, poorly understood pathological condition.

Brain Diseases↗

PubMed1998

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.

We report on the genetic and molecular characterisation of an Italian family with a late-onset, autosomal dominant transthyretin amyloidosis. The transthyretin gene was analysed by polymerase chain reaction (PCR), restriction generating PCR, and sequencing, allowing us to discover in one allele a novel point mutation. It consists of a G to C transversion at position 1692 of the genomic sequence, leading to a Thr for Arg substitution at the position 34 of the polypeptidic chain. This mutation is associated with a severe sensory-motor peripheral neuropathy and a restrictive cardiomyopathy.

Aged↗

PubMed1998

Proton magnetic resonance spectroscopy in an Italian family with spinocerebellar ataxia type 1.

Linkage and DNA analysis, magnetic resonance (MR) imaging, and single-voxel proton MR spectroscopy were obtained in 10 members of an Italian kindred with spinocerebellar ataxia type 1 (SCA1). The size of the basis pontis, cerebellar hemispheres, middle cerebellar peduncles, and medulla oblongata were decreased in 4 members carrying the SCA1 gene, compared with 6 unaffected subjects. Diffuse signal changes in the pons and cerebellum were observed only in the carrier with the longest disease duration and greatest disability. The N-acetylaspartate/creatine ratio and the choline/creatine ratio in the basis pontis were markedly decreased in 2 symptomatic SCA1 carriers and moderately decreased in 2 asymptomatic SCA1 carriers, compared with the unaffected family members and a control group of 10 healthy volunteers. Minor decreases in the N-acetylaspartate/creatine ratio and the normal choline/creatine ratio were observed in the cerebellar hemisphere of the SCA1 carriers. Reduction of the N-acetylaspartate/creatine ratio, demonstrated by MR spectroscopy in the pons, is likely to reflect a loss of neuronal viability and might represent a biochemical marker of SCA1 more sensitive than brainstem and cerebellum atrophy and signal changes shown by MR imaging.

Adult↗

PubMed1998

Transient regression of an intracranial germ cell tumour after intravenous steroid administration: a case report.

Magnetic resonance imaging showed transient regression of the lesion after intravenous steroid administration in a patient with intracranial multifocal germ cell tumour. Prominent lymphocyte infiltration of the tumour was seen at histological examination and presumably accounts for the regression. Germ cell tumour must be included in the differential diagnosis of intracranial mass lesions sensitive to steroids.

Adolescent↗

PubMed1998

Posterior spinal artery infarct.

Acute medullary syndrome developed in a patient in whom glue had been inadvertently injected into the right posterior radiculomedullary artery during endovascular occlusion of a spinal dural arteriovenous fistula at T-11. MR imaging 40 days after the procedure showed signal changes and contrast enhancement in the posterior and right lateral column at T10-11. Circumscribed signal changes in the same areas without contrast enhancement were seen 4 months later. MR imaging was able to show this posterior spinal artery infarct.

Aged↗

PubMed1997

Adie's tonic pupil as a manifestation of Sjögren's syndrome.

We here report two cases of Adie's tonic pupil, associated with clinical sensory polyneuropathy and Sjögren's syndrome, in one of whom it actually heralded the onset of the syndrome. Electrophysiology studies indicated absent H reflexes but normal peripheral nerve conductions, thus suggesting an involvement of the dorsal roots or spinal ganglion that would be in line with previously published reports of dorsal ganglionitis as the primary neuropathological lesion in Sjögren's syndrome. We suggest that all cases of tonic pupils should be screened for polyneuropathy and Sjögren's syndrome.

Adie Syndrome↗

PubMed1997

Gaze-evoked amaurosis heralding orbital angiomyoma. Case report.

The unusual case of a patient presenting with gaze-evoked amaurosis as an early and isolated sign of orbital angiomyoma is reported. Computed tomography or magnetic resonance of the orbits need to be expeditiously performed in patients with gaze-evoked amaurosis in order to identify or rule out the possible presence of an underlying tumor.

Angiomyoma↗

PubMed1997

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). In addition, expansions of the CAG repeat motif at the 3' end of the gene, smaller than those responsible for dynamic mutation disorders, were found in patients with a progressive spinocerebellar ataxia, named SCA6. In the present work, the analysis of two new families with small CAG expansions of the CACNA1A gene is presented. In one family, with a clinical diagnosis of EA2, a CAG23 repeat allele segregated in patients showing different interictal symptoms, ranging from nystagmus only to severe progressive cerebellar ataxia. No additional mutations in coding and intron-exon junction sequences in disequilibrium with the CAG expansion were found. In the second family, initially classified as autosomal dominant cerebellar ataxia of unknown type, an inter-generational allele size change showed that a CAG20 allele was associated with an EA2 phenotype and a CAG25 allele with progressive cerebellar ataxia. These results show that EA2 and SCA6 are the same disorder with a high phenotypic variability, at least partly related to the number of repeats, and suggest that the small expansions may not be as stable as previously reported. A refinement of the coding and intron-exon junction sequences of the CACNA1A gene is also provided.

Adolescent↗

PubMed1996

Decreased affinity of apolipoprotein AII to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34).

We previously reported that patients with familial amyloidotic polyneuropathy (FAP) (Met30) showed low plasma apolipoprotein AII (apoAII) levels and apolipoprotein AII/AI (apoAII/AI) ratio as the progression of the disease while plasma levels of apoAI, B, CII, CIII, and E were all within normal ranges. In the present study, we investigated these apolipoproteins contained in high density lipoprotein (HDL) extracted from plasma of FAP (Met30), and the levels of apoAII gene expression in the liver from patients with FAP (Met30). Plasma apoAII levels and the apoAII/AI ratio in extracted HDL in all the FAP types examined decreased compared with those in normal control subjects. Levels of apoAII mRNA expression in the liver of FAP (Met30) patients did not show significant changes compared with those in control subjects. These results suggest that decreased affinity of apoAII to HDL could not be compensated by overproduction of apoAII in the liver of the FAP patients and as a result of this phenomenon, plasma apoAII levels might decrease as the progression of FAP.

Amino Acid Sequence↗

PubMed1996

Combined modality treatment with a weekly brief chemotherapy (ACOP-B) followed by locoregional radiotherapy in localized-stage intermediate- to high-grade non-Hodgkin's lymphoma.

BACKGROUND: A cooperative study was undertaken to evaluate the efficacy and toxicity of a very brief course of chemotherapy followed by locoregional radiotherapy in patients with localized-stage intermediate- to high-grade non-Hodgkin's lymphoma (NHL). PATIENTS AND METHOD: From January 1988 to November 1994, 84 patients with localized stages IA and IIA intermediate- to high-grade NHL underwent a combined modality treatment. All patients underwent a six-week chemotherapy regimen, ACOP-B (doxorubicin 50 mg/sqm and cyclophosphamide 350 mg/sqm on weeks 1, 3, 5; vincristine 1.4 mg/sqm and bleomycin 10 mg/sqm on weeks 2, 4, 6; prednisone 50 mg p.o. daily throughout the first two weeks and thereafter every other day), followed by locoregional radiotherapy (36 Gy). RESULTS: The median age was 58 years, with 35% older than 65 years; 52 patients had stage I and 32 stage II; 39 patients had extranodal +/- nodal involvement, and 4 had testicular involvement. Treatment was well tolerated, with only 38% suffering from mild mucositis and no toxic deaths. Seventy-nine patients achieved CR after ACOP-B and 83 at the end of the program. With a median follow-up of four years, relapse-free survival was 79% with 15 relapses (93% disseminated). Two patients with testis lymphoma had CNS relapses. Overall survival was 90% at four years. CONCLUSION: This combined program is effective and probably curative in localized stage intermediate- to high-grade NHL, with low toxicity, also in elderly people. Patients with NHL of the testis, as primary site, require CNS prophylaxis due to the high likelihood of CNS relapse.

Adult↗

PubMed1996

Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.

Transthyretin gene point mutations cause hereditary amyloidosis with an autosomal dominant pattern of inheritance. The disease usually manifests itself in heterozygous patients, although a few homozygotes have been reported. We describe two unrelated patients carrying the Leu64 mutation, one of whom presents a homozygous genotype (Family B). Homozygosity was confirmed by sequence analysis, RG-PCR and double one-dimensional electrophoresis of the plasma protein. Although the clinical picture of the homozygous patient of Family B was more severe than that shown by the heterozygous members of Family A, the variability often displayed by FAP patients does not allow any firm conclusion about the role of homozygosity in the seriousness of the disease.

Aged↗

PubMed1996

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more respiratory-chain enzymes carrying mtDNA-encoded subunits. The pattern of inheritance indicates a nuclear gene defect predisposing to secondary mtDNA deletions. Recently, in one Finnish family, we assigned an adPEO locus to chromosome 10q 23.3-24.3 but also excluded linkage to this same locus in two Italian adPEO families with a phenotype closely resembling the Finnish one. We applied a random mapping approach to informative non-10q-linked Italian families to assign the second locus for adPEO and found strong evidence for linkage on chromosome 3p 14.1-21.2 in three Italian families, with a maximum two-point lod score of 4.62 at a recombination fraction of .0. However, in three additional families, linkage to the same chromosomal region was clearly absent, indicating further genetic complexity of the adPEO trait.

Adult↗

PubMed1996

Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).

Affected members and asymptomatic relatives of 9 Italian families with transthyretin (TTR)-related hereditary amyloidosis carrying different TTR mutations (Met30, Pro36, Ala47, Ala49, Gln89) were followed up with repeated EMG investigations. In 3 patients, spontaneous myoclonic discharges with synkinesia were found in the facial muscles. EMG signs of chronic denervation with features of proximal neural involvement were also found in proximal limb muscles. Neuropathy worsened step-wise with progressing clinical stage. Sympathetic skin responses progressively decreased, disappearing in the late stages of the disease. Symptomatic relatives carrying the TTR mutations had significantly reduced sensory conduction velocities and amplitudes of compound motor action potentials. Follow-up studies in 3 patients after liver transplant showed progression of sensory-motor neuropathy 1 year after the transplant, and a slight improvement 18 months later. Based on our electrophysiological findings and a review of the literature, we propose that TTR-related FAP type I be considered not only a peripheral neuropathy, but also a meningoradiculopathy due to deposition of amyloidogenic TTR in the leptomeninges.

Adult↗

PubMed1995

An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Vascular dementia is usually sporadic and associated with definite risk factors. Several cases also occur in a familial fashion, and may affect middle-aged or even younger subjects. Recently, an autosomal dominant inheritance was demonstrated in two unrelated French families, the members of which were affected by stroke-like episodes culminating in progressive dementia. Genetic linkage analysis assigned the disease locus to chromosome 19q12. We report an additional kindred of Italian origin in which at least 16 subjects presented leukoencephalopathic alterations. Recurrent strokes, psychiatric disturbances, dementia, and in 2 members, tetraplegia and pseudobulbar palsy were the hallmarks of this syndrome. Notably, 5 asymptomatic individuals had neuroradiological signs of leukoencephalopathy. Pathological examination of 1 subject revealed a widespread vasculopathy of the perforating arterioles, characterized by deposition of eosinophilic-congophilic material that did not immunostain with antibodies against prion protein, beta-amyloid, cystatin C, transthyretin, or heat-shock protein 70 and was similar to that described in the French families. Based on the maximum lod score, the most likely location for the disease locus was also mapped to chromosome 19q12, and found to coincide with the CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) locus. The present results confirm the existence of a nosologically distinct, autosomal dominant cerebrovascular disease, presenting with recurrent subcortical ischemic strokes independent of vascular risk factors.

Adult↗