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Biomedical subjects

G Piccolo

Publications and source records attributed to G Piccolo.

At least 55 records · Page 3Linked to original sources
PubMed1996

Parasites in Italian sea turtles. I. The leatherback turtle Dermochelys coriacea (Linnaeus, 1766).

Three species of trematodes (Digenea) were collected from a leatherback turtle (Dermochelys coriacea) stranded on the coast of Lampedusa (Sicily Channel, Mediterranean Sea, Italy). One, Enodiotrema carettae, was found in the liver and two, Enodiotrema instar and Pyelosomum renicapite, in the intestine. E. carettae and E. instar are new host findings, E. carettae is a geographic novelty as well. A description of E. instar, previously reported and described by Looss (1902), is included.

Animals↗
PubMed1995

Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in italian patients presenting with sporadic bilateral optic neuritis.

Eighteen Italian patients presenting with sporadic, bilateral, simultaneous, or sequential optic neuritis (ON) were evaluated for 14 base changes in mitochondrial DNA (mtDNA) previously found associated with Leber's hereditary optic neuropathy (LHON), aiming to identify at a molecular level LHON cases with nontypical phenotypes. During a 36-month follow-up, 11 ON patients developed clinical or laboratory features allowing diagnosis of clinically definite multiple sclerosis (MS). None was positive for any of the "primary" LHON-associated mutations. However, single or multiple "secondary" LHON-associated sequence changes at 4216/ND1, 4917/ND2, and 13708/ND5 were detected in ON and ON-MS patients. MS controls without visual failure as well as healthy control subjects harbored the same base changes at similar frequencies. In addition, coexistence of three sequence changes was found in two cases (1 ON-MS patient and 1 MS control patient). We also report finding two new neutral sequence base changes in the ND-4 gene which were identified by SSCP and confirmed by automated DNA sequence analysis. The results suggests that these secondary mutations do not contribute to MS susceptibility in these patients, but rather represent neutral mitochondrial DNA polymorphisms. In addition, whether there are biochemical abnormalities related to single and multiple secondary mtDNA sequence changes remain to be demonstrated.

Adult↗
PubMed1995

HLA complement gene polymorphisms in multiple sclerosis. A study on 80 Italian patients.

We studied C4A, C4B, and Bf complement gene polymorphisms in 80 Italian patients with multiple sclerosis (MS). We observed a significantly higher frequency of C4AQ0 allele in patients with the relapsing-remitting form of MS than in ethnically homogeneous controls. Restriction fragment length polymorphism analysis by Southern blotting of the C4/CYP21 gene complex showed that a structural gene deletion was present in 45% of patients with the C4AQ0 allele. Our data support the hypothesis that relapsing-remitting MS and primarily chronic progressive MS are immunogenetically distinct diseases; further, complement factor abnormalities typical of autoimmune diseases could influence the pathogenesis of MS.

Case-Control Studies↗
PubMed1995

Breathing during sleep in myasthenia gravis.

The aim of this study was to assess breathing patterns during sleep in patients with generalized mild myasthenia gravis. Fourteen patients (13 F; 1M, age range 20-40 years) in a stable clinical and functional state underwent a sleep questionnaire, baseline respiratory function tests and standard nocturnal polysomnography. All of the patients had normal daytime blood-gas values, except one who showed mild hypoxemia. No patient complained of disturbed sleep; six patients reported snoring. In five patients nocturnal polysomnography showed the occurrence of short and infrequent central apneas mainly during REM sleep, together with a drop in HbSaO2 levels of more than 5% of the baseline wakefulness value. Our data indicate that, in patients with mild generalized MG in a stable functional state, breathing pattern instability during sleep is infrequent and, when it occurs, is mild and mainly related to REM sleep.

Adult↗
PubMed1995

Twitch response of striated muscle in patients with progressive external ophthalmoplegia, mitochondrial myopathy and focal cytochrome c-oxidase deficiency.

Some aspects of the contractile properties of skeletal muscle in patients with progressive external ophthalmoplegia (PEO), mitochondrial myopathy and focal cytochrome c-oxidase deficiency were investigated by studying the twitch response (TR) of the tibialis anterior muscle both at rest and after maximum isometric contraction. The results of needle electromyography were normal in four of the six examined patients, and myopathic in the remaining two. A slowing in muscle relaxation was the most frequently observed abnormality; significantly prolonged muscle contraction times and reduced twitch torque potentiation values after isometric contraction were also detected. TR abnormalities in PEO patients may be due either to a dysfunction of the contractile machinery depending upon impaired muscle energy supply or to altered muscle fiber characterized by the predominance of type I slow fiber. In addition to conventional electromyographic investigations, TR study may be a useful diagnostic tool in PEO patients.

Adult↗
PubMed1994

Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy.

A neurologically asymptomatic 32-yr-old man recently transplanted for end-stage dilated cardiomyopathy presented with progressively increasing serum creatine kinase level (hyperCKemia) while receiving cyclosporin and simvastatine treatment. Revised family history led to suspicion of X-linked inherited myopathy, then confirmed by muscle biopsy findings showing myopathic dystrophic changes, a patchy distribution of immunoreactivity on the sarcolemma of several muscle fibres with anti-dystrophin antibodies and a double dystrophin band of normal and lower molecular weight on immunoblot analysis. A molecular genetic study demonstrated a deletion spanning over exons 45-47 at Xp21 locus. Routine neurological evaluation and currently available laboratory investigation may lead to early diagnosis of otherwise unrecognized Xp21 BMD among patients presenting with dilated cardiomyopathy alone, thus avoiding subsequent diagnostic difficulties.

Adult↗
PubMed1994

Lack of both spinal fluid oligoclonal bands and complement 4A protein in an MS patient.

We report the case of a multiple sclerosis (MS) patient without oligoclonal bands (OCB) in three cerebrospinal fluid samples. Restriction fragment length polymorphism analysis of Class 3 genes with radiolabelled specific cDNA probes showed a homozygous deletion of the complement 4A (C4A) genes. Consequent lack of C4A protein can alter the development of humoral immune response probably preventing OCB production. Our observation may suggest a link between a rare immunogenetic pattern and the absence of OCB in MS.

Adult↗
PubMed1993

The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of Stiff-Man syndrome with breast cancer.

Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by progressive rigidity of the body musculature with superimposed painful spasms. An autoimmune origin of the disease has been proposed. In a caseload of more than 100 SMS patients, 60% were found positive for autoantibodies directed against the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). Few patients, all women affected by breast cancer, were negative for GAD autoantibodies but positive for autoantibodies directed against a 128-kD synaptic protein. We report here that this antigen is amphiphysin. GAD and amphiphysin are nonintrinsic membrane proteins that are concentrated in nerve terminals, where a pool of both proteins is associated with the cytoplasmic surface of synaptic vesicles. GAD and amphiphysin are the only two known targets of CNS autoimmunity with this distribution. This finding suggests a possible link between autoimmunity directed against cytoplasmic proteins associated with synaptic vesicles and SMS.

Autoantigens↗
PubMed1993

Autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer.

BACKGROUND: The stiff-man syndrome is a rare disease of the central nervous system characterized by progressive rigidity of the body musculature. Autoantibodies directed against glutamic acid decarboxylase are present in about 60 percent of patients with the syndrome. In this group, there is a striking association of the stiff-man syndrome with organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus. METHODS: We studied three women with the stiff-man syndrome and breast cancer, seeking autoantibodies directed against nervous system antigens in serum and cerebrospinal fluid by immunocytochemical techniques, Western blotting, and immunoprecipitation. RESULTS: Autoantibodies directed against a 128-kd brain protein were found in two of the women with the stiff-man syndrome and breast cancer. These results led to a search for breast cancer in the third patient with the stiff-man syndrome, who also had autoantibodies. A small invasive ductal carcinoma was detected by ultrasonography and removed. Serum samples from all three patients were negative for autoantibodies directed against glutamic acid decarboxylase. Autoantibodies against the 128-kd antigen were not detected in control patients with the stiff-man syndrome without breast cancer or in patients with cancer who did not have the syndrome. Within the nervous system, the 128-kd autoantigen was localized in neurons and concentrated at synapses. CONCLUSIONS: In a subgroup of patients with the stiff-man syndrome, the condition is likely to have an autoimmune paraneoplastic origin. The detection of autoantibodies against the 128-kd antigen in patients with this syndrome should be considered an indication to search for an occult breast cancer.

Aged↗
PubMed1993

Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family.

By a rapid PCR-based method to assess the 8344 mtDNA mutation associated with MERRF disease, we have studied DNA from blood samples of 10 individuals belonging to a family spanning four generations in which one patient showed the complete MERRF phenotype, three other members were less severely affected, while the remaining were unaffected. The percentage of mutant mtDNA was quantified by laser-densitometric scanning of the negative photographic sheets of the agarose gels. The results showed that the MERRF patient had 53% of mutated mtDNA while the two less affected patients had 62% and 14% of mutated mtDNA, respectively. However, a high percentage of mutated genomes (up to 64%) was also found in some unaffected relatives. These results show that although on one hand the mutation is probably the primary cause of the disease, on the other hand the relative amount of mutated mtDNA in blood samples is not indicative of its clinical expression.

Adolescent↗
PubMed1993

Azathioprine as a single immunosuppressive drug in the treatment of myasthenia gravis.

We retrospectively evaluated results obtained from azathioprine (AZA) treatment on a selected sample of 40 patients affected by autoimmune myasthenia gravis (MG). Patients received AZA as a single immunosuppressive drug for at least 2 years. Twenty out of 40 patients received also a one-month course of cyclophosphamide (CP) before starting AZA. All patients started immunosuppressive treatment out of myasthenic crisis. After 3, 12 and 24 months of AZA treatment, 82.5%, 92.5% and 97.5% of the patients respectively showed improvement in functional state, disappearance of bulbar involvement, or both. The impressive percentage of short-term positive results did not seem influenced by pre-treatment by CP. Side effects included only minor and transitory gastrointestinal symptoms and reversible cytopenia. Although the patient population was either particularly suitable for AZA treatment or candidate to a better response, our data suggest that AZA might also have good short term effects in a subgroup of MG patients.

Adolescent↗
PubMed1993

[The organizational problems of the hospitals of the Nord Italia Transplant Program (NITp) engaged in the activities of organ retrieval for transplantation. The Collaborative Group of Resuscitation Anesthetists].

If the quality of results of organ transplantation in NITp is highly satisfactory, the same cannot be said for the number of transplants performed, which only cover 20-25% of the requirement. To understand the causes of organ shortage, a study group of Anaesthesiologists and Transplant Coordinators from the North Italy Transplant Program (NITp) investigated, through a questionnaire addressed to the Heads of 103 Intensive Care Units (ICU) in 92 Hospitals in the NITp area, some of the organizational problems linked to donor identification and treatment and to organ retrieval. The questionnaire took into consideration the number of possible donors identified in 1990, those retrieved and the causes for non retrieving organs and examined a number of variables linked both to retrieval and to ICUs and Hospitals organization. The results show that potential donors were 461: 143 (31%) were used, 138 (30%) were lost due to family opposition to organ donation, 192 (20%) for clinical reasons and 88 (19%) for organizational reasons. The latter figure represents 5% of non retrieval in the most active ICUs and increases to 50% in the Hospitals that had procured no donors in 1990. The main obstacles for ICUs to procure organ donors are: convey the Medical-Legal Committee, carry out of complicated administrative procedures, availability of round the clock specialized equipment for neurological assessment (especially for ICU outside Neurosurgical and Neurological departments), inadequate number of medical and nursing staff, most of all at night, and finally the difficulty in the management of non-traumatic cerebrovascular patients.

Hospitals, General↗
PubMed1992

Progressive necrotic myelopathy as a paraneoplastic syndrome: report of a case and some pathogenetic considerations.

Progressive necrotic myelopathy is a syndrome characterized by a spotty necrotic degeneration of the whole spinal cord in both anterior and posterior horns. This syndrome was recorded in a man suffering from a lymphoplasmatocytoid lymphoma. Whilst the usual evolution of this neurological syndrome is inexorably fatal, our case had a better outcome, due to the good response of the neoplasm to therapy. Progressive necrotic myelopathy is an uncommon complication of cancer, but it is probably incorrectly recognized in a number of cases. Two possible pathogenetic hypotheses are suggested: an autoimmune or an infective mechanism.

Autoimmune Diseases↗