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Biomedical subjects

C Battisti

Publications and source records attributed to C Battisti.

At least 37 records · Page 2Linked to original sources
PubMed1998

Giant axonal neuropathy with subclinical involvement of the central nervous system: case report.

The case of a 17-year-old girl with slowly progressive sensory-motor neuropathy is described. Sural nerve biopsy showed abnormally enlarged exons filled with neurofilaments. Neurofilament accumulation was limited to the axons and was not found in other cells of the skin or peripheral nerve. The patient showed EEG and brain MRI abnormalities, but there was no clinical evidence of central nervous system involvement. Although these findings suggest an atypical attenuated form of giant axonal neuropathy, a new nosological entity cannot be excluded.

Adolescent↗
PubMed1998

Vitamin E serum levels in Rett syndrome.

In order to study the role of vitamin E in the pathogenesis of Rett syndrome (RS), we analysed vitamin E serum levels in twenty-eight patients affected by this disorder. We found lower vitamin E serum levels in nine cases (32.1%). These results indicated that the oxidative free radical metabolism may be impaired in a significant percentage of Rett syndrome patients suggesting the need for further studies of tissue vitamin E in different brain regions.

Adolescent↗
PubMed1998

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of nonesterified cholesterol. Plasma lipid levels are not always increased suggesting that the disease may be due to abnormal lipid metabolism limited to the cornea. We observed a family with typical SCCD, in 1 case associated with mental retardation and mild cerebellar hypoplasia. Results of serum lipid analysis of all patients were normal. Ultrastructural study of a skin biopsy specimen and fibroblast pellet showed membrane-bound spherical vacuoles containing lipid material. Cultured fibroblasts stained by filipin, a fluorescent probe that specifically binds unesterified cholesterol, showed abnormal cytoplasmic fluorescent material, suggesting abnormal cholesterol metabolism. The presence of neurological impairment, associated with SCCD in 1 of our cases, may be regarded as coincidental. Evidence of storage lipids in skin and cultured fibroblasts suggests that the disorder of intracellular cholesterol metabolism is not limited to the cornea and that skin biopsy may be a useful method to confirm the diagnosis.

Adult↗
PubMed1998

Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency.

The authors describe a case of early onset ataxia with cerebellar atrophy and vitamin E deficiency, treated with alpha-tocopherol supplementation and physically rehabilitated by postural biofeedback. Clinical assessments, serum vitamin E levels and postural evaluation by means of a stabilometric platform continued for about 2 years and significant clinical improvement was recorded. Our study confirms that combined physical therapy and vitamin E supplementation may result in improvement of cerebellar function. Motor improvement is directly related to vitamin E serum levels, providing further confirmation that normal vitamin E levels are crucial for proper brain functions.

Adolescent↗
PubMed1997

Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?

Perineurial cell ensheathment of muscle fibers has been reported only in one patient. Here we describe a new case with identical morphologic features and a similar, but milder clinical course characterized by progressive muscle weakness and bilateral palpebral ptosis. EMG examination (including repetitive stimulation) and antibodies against acetylcholine receptors were normal. Muscle biopsy revealed several muscle fibers encircled by stratified rings of homogeneous material in which elongated nuclei were visible; this material was positively stained by antibodies directed at epithelial membrane antigen. On ultrastructural examination these encircling-fiber spirals had the characteristics of perineurial cells. It is not clear yet whether perineurial cell ensheathment of muscle fibers is an occasional feature, or whether it has a pathogenetic role in the clinical picture of both cases. The perineurial sheaths might alter the correct neuromuscular transmission mimicking a myasthenia-like disease, either by interfering with the neuromuscular junction, or by changing the microenvironment, and, thus, altering the general excitability of the muscle fibers.

Biopsy↗
PubMed1997

A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case.

Myasthenia gravis and mitochondrial myopathy may present with similar clinical symptoms as inconstant palpebral ptosis, ophthalmoparesis, and muscle weakness. A few case initially diagnosed as myasthenia gravis by a positive decremental response on EMG and successful anticholinesterase therapy revealed to be affected by mitochondrial disease. We report a new case initially found to be affected by myasthenia gravis in whom muscle biopsy, performed because of symptom worsening, disclosed a mitochondrial myopathy. It is not clear if the association of mitochondrial myopathy and myasthenia gravis is coincidental or if there is a pathogenic link between the two pathologies. We suggest that muscle biopsy should be performed in cases with atypical myasthenia gravis signs.

Aged↗
PubMed1996

Vitamin E serum levels are normal in ataxia telangiectasia (Louis-Bar disease).

In order to study the role of vitamin E in the pathogenesis of ataxia telangiectasia, we analysed vitamin E serum levels in five children with this disorder. No differences with respect to controls were found. However, these negative results do not exclude that abnormal vitamin E metabolism may be present at the cellular level.

Adolescent↗
PubMed1996

Amiodarone affects membrane water permeability properties of human erythrocytes and rat mitochondria.

Dose-dependent water exchange times and intracellular water contents were measured by NMR (nuclear magnetic resonance) in erythrocytes and mitochondria interacted with the anti-anginal and anti-arrhytmic agent, amiodarone. Addition of the drug up to 26 microM yielded 80% enhancement of the water exchange rate in erythrocytes at 37 degrees C and 41% enhancement at 22 degrees C with 40% and 9%, respectively, increases in the intracellular water content. Similar enhancements were obtained in mitochondria at 22 degrees C. The data suggests a somewhat higher affinity of amiodarone to mitochondrial than to erythrocyte membranes.

Amiodarone↗
PubMed1996

Increased apoptotic response to 2-deoxy-D-ribose in ataxia-telangiectasia.

Ataxia-telangiectasia (AT) is an autosomal recessive disease characterized by neurodegeneration and immunodeficiency. Hypersensitivity to radiation and chromosome instability are the biological markers of this disease. The gene responsible for AT (ATM), has been identified on chromosome 11q22-23; it encodes a large polypeptide partially homologous to the phosphatidylinositol (PI) 3-kinase family. PI 3-kinase is a protein family playing an important role in the prevention of apoptosis. In order to investigate the apoptosis pathway, we tested peripheral blood cells from AT patients and controls exposed to 2-deoxy-D-ribose (dRib), a reducing sugar that induces apoptosis in human quiescent lymphocytes, probably through oxidative damage. Our results show that the response to dRib-induced apoptosis is significantly more elevated in AT cells than in control cells, suggesting that the apoptotic process plays a role in the pathogenesis of AT disease.

Adolescent↗
PubMed1996

Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy.

A case of adult onset coeliac disease with IgA and severe vitamin E deficiencies, associated with cerebellar impairment and peripheral neuropathy, is described. Nerve conduction velocities, BAERs and SEP were altered. Brain nMR showed cortical atrophy mainly in the frontal and parietal regions. At ultrastructural examination, nerve biopsy showed a severe nerve fiber loss with presence of lipofuscin. Lipofuscin has been also found in skin and muscle biopsy. Duodenal biopsy showed villar atrophy with criptae hypoplasia. IgA, Apo A1 lipoprotein and cholesterol were decreased. Serum level of vitamin E was not detectable and its amount did not increase after an oral loading (2 g bolus). Parenteral vitamin E administration (900 mg/day) was able to normalize the plasma values only after 6 months of chronic administration of the drug in coincidence with a significant improvement of clinical and neurophysiological signs, and disappearance of lipofuscin storage in the skin biopsy.

Brain Diseases, Metabolic↗
PubMed1995

Amiodarone induced lipidosis similar to Niemann-Pick C disease. Biochemical and morphological study.

Amiodarone is effective in the treatment of supraventricular and ventricular cardiac arrhythmia, however a high incidence of toxic side effects has been observed in various organs and tissues during chronic treatment. Ultrastructural observation of affected tissues reveals myelinoid inclusion bodies. The exact pathogenetic mechanism of these changes is still unknown. In this study we investigated the biochemical effects of this drug on lysosomal hydrolases and the alterations induced in subcellular organelles of fibroblasts cultured for 24 h with different concentrations of amiodarone in the medium. Of the enzyme activities assayed, we only observed a significant reduction in sphingomyelinase. Ultrastructural observation of fibroblasts showed swollen lysosomes and a few onionoid inclusion bodies at lower concentrations of the drug; at higher concentrations the lysosomal system was severely impaired. Cytochemical staining of unesterified cholesterol with filipin showed accumulation of cholesterol. We conclude that chronic amiodarone treatment in experimental conditions induces inhibition in sphingomyelinase activity through interaction with membrane lipids and modification of bilayer structure. Higher concentrations of the drug impair cholesterol transport and induce lipid accumulation. These results may be useful for understanding the pathogenesis of induced lipidosis in patients in chronic treatment with amiodarone.

Amiodarone↗
PubMed1995

Plasma levels of vitamin E in Parkinson's disease.

We report the analysis of plasma levels of vitamin E that has been found normal in 20 italian patients with Parkinson's disease (PD) confirming the previously reported results from other groups. We discuss the literature data about the possible protective effect of antioxidant agents in the PD and generally in the aging processes.

Aged↗
PubMed1994

GH-releasing activity of Hexarelin, a new growth hormone releasing peptide, in infant and adult rats.

In recent years several synthetic peptides have been shown to be active in inducing GH secretion in different mammalian species. Among them GHRP-6, GHRP-1 and GHRP-2 have demonstrated high effectiveness and high selectivity in stimulating GH release. In the present paper we report studies on the GH-secreting properties of a GHRP analog in which Trp was substituted with the chemically more stable 2-Methyl-Trp. In studies performed in conscious 10-day old rats, the hexapeptide Hexarelin (His-D-2Me-Trp-Ala-Trp-D-Phe-Lys-NH2) resulted very active in stimulating GH secretion. In anesthetized adult male rats, i.v. administration of GHRP-6 or Hexarelin elicited prompt GH release with peak GH levels occurring within 10 min At all the doses tested, the 2 peptides possessed similar effectiveness in stimulating GH release. Hexarelin given s.c. elicited a long-lasting GH release and was slightly more effective than GHRP-6. In conclusion, these findings indicate that Hexarelin is a highly effective GH releaser and might represent a valuable diagnostic and/or therapeutic tool in clinical practice.

Aging↗
PubMed1993

Polymorphic DdeI restriction sites in mitochondrial d-Loop DNA from Emilian blood donors.

We describe two new polymorphic sites identified by DdeI digestion of human mitochondrial D-Loop DNA. Their frequencies were estimated on a random group of 54 unrelated blood donors, born and descending from female ancestors of the Province of Reggio Emilia (Central Emilia, Northern Italy). These newly detected polymorphisms were generated by A to G transitions at positions 16300 and 16482 of mt-DNA. They were found at a 5% frequency in our sample whereas the remaining 95% of the sample exhibited a Cambridge sequence restriction pattern.

Base Sequence↗
PubMed1992

Calmodulin antagonists chlorpromazine and W-7 inhibit exogenous cholesterol esterification and sphingomyelinase activity in human skin fibroblast cultures. Similarities between drug-induced and Niemann-Pick type C lipidoses.

In this report we showed that calmodulin antagonists chlorpromazine (CPZ) and W-7 (N-[6-aminohexyl]-5-chloro-1-naphtalenesulfonamide), when added to fibroblast cell cultures, gave rise to a time- and dose-dependent decrease of sphingomyelinase activity. CPZ and W-7 also significantly inhibited LDL- and non-LDL-dependent cholesterol esterification. Addition of these drugs to cell culture medium mimicked what is observed in the genetic disease Niemann-Pick type C. H-7 (1-[5-isoquinonylsulfonyl]-2-methylpiperazine), an inhibitor of protein kinase C and cyclic nucleotide-dependent kinases, had no effect on sphingomyelinase and cholesterol ester formation. Thus the possibility of a modulation of cell sphingomyelin and cholesterol esters by a calmodulin-dependent second messenger system must be considered.

Calmodulin↗
PubMed1992

Imipramine induced lipidosis and dexamethasone effect: morphological and biochemical study in normal and chronic GM2 gangliosidosis fibroblasts.

A large heterogeneous group of lysosomotropic compounds with a common cationic amphiphilic structure induces in vitro and in vivo lysosomal lipid storage. The biochemical mechanism underlying the lipidosis is still the subject of investigation. The authors report the experimental effect of imipramine and dexamethasone on lysosomal system in cultured skin fibroblasts. Morphological and ultrastructural observations of cells treated with imipramine showed vacuoles with lipidic storage, enlarged lysosomes with electron translucent zones and normal appearance of all the other cytoplasmic organelles. The lysosomal enzyme activities were decreased on biochemical study. On the contrary, an increased enzyme activity was detected in the culture medium. Pretreatment with dexamethasone partially prevented the effect of imipramine. Our results suggest that tricyclic antidepressants may induce lysosomal lipidosis through a dysfunction in the recycling of mannose-6-phosphate receptors and in the trafficking of newly synthesized lysosomal enzymes. Moreover the data presented may provide a clue in understanding some of the side effects observed in patients chronically treated with antidepressant drugs.

Cells, Cultured↗
PubMed1992

Sensitivity, resolution and image quality with a multi-head SPECT camera.

This investigation sought to determine which collimation factors were most important in providing superior image quality with a three-headed SPECT device. The relationship between sensitivity, resolution and SPECT image quality was studied. Two different sets of parallel-hole collimators were used. The ultrahigh-resolution collimators have higher spatial resolution (8.9 versus 11.0 mm), but only 55% of the sensitivity of the high-resolution collimators. A phantom with hot rods was imaged with both collimator sets. Observers compared images with the ultrahigh-resolution collimators to images of varying counts with the high-resolution collimators and determined which high-resolution images matched the ultrahigh-resolution images in image quality. Eleven patient studies were acquired with both collimator sets for equal time, and observers chose which image set they preferred. Transverse images of brain and liver studies were simulated with varying resolution and counts and subjectively compared. The phantom study indicated that the improvement in resolution led to image quality comparable to increasing the number of counts by a factor of 2.5 to 3.4. The clinical studies showed that the ultrahigh-resolution collimators were preferred in a large majority of the cases. These trends were also seen in the simulation study. These results confirm that higher resolution collimators should be used with multihead SPECT devices. The improvement in resolution more than compensates for the loss in sensitivity, leading to an overall improvement in image quality.

Brain↗