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Biomedical subjects

M Abbruzzese

Publications and source records attributed to M Abbruzzese.

At least 37 records · Page 2Linked to original sources
PubMed1997

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies.

Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p11.2, including the gene for the peripheral myelin protein 22 (PMP-22). Because of the proposal that a decreased dosage of the PMP-22 gene was the cause of HNPP, we evaluated sural nerves from eight patients with the 17p11.2 deletion and from five normal controls. The relative amount of PMP-22 mRNA was significantly lower in HNPP patients compared with normal controls (p < 0.02) using a semiquantitative reverse transcriptase-polymerase chain reaction. There was no significant decrease of Pzero mRNA. Sural nerves from HNPP patients showed normal immunostaining with monoclonal antibodies against PMP-22, Pzero, and myelin basic protein, and only rare myelinated fibers, classified as "tomacula," showed a patchy staining of the compact myelin with monoclonal antibody against PMP-22. The significant underexpression of PMP-22 mRNA in HNPP patients compared with normal controls demonstrates that a decreased dosage of the PMP-22 gene is the most likely pathogenetic mechanism in HNPP.

Base Sequence↗
PubMed1997

[Acute iatrogenic myopathy during treatment of status asthmaticus. Our experience and review of the literature].

CASE REPORT: A young man was admitted to the ICU for acute asthmatic respiratory failure. He was sedated with propofol, curarized with pancuronium and put on mechanical ventilation for 15 day because of the persistent asthmatics crisis. Drug therapy for asthma included high-dose corticosteroids. When sedation and paralysis were stopped, the patient, that was fully conscious, showed flaccid quadriplegia. A muscular biopsy showed elective loss of the myosin thick filaments. Electrophysiologic evaluation was compatible with both neurologic or muscular pathology. The evolution of the disease was good; a drop-out performed 5 months later showed a complete motor recovery. DISCUSSION: This case report confirms that in some patients, intensive treatment of status asthmaticus may cause myopathy. Only recently this myopathy has been correlated to an interaction between steroids and neuromuscular blockers. Many experimental and clinical observations suggest a negative interaction between steroids and non-depolarizing curare derivatives. In the case reported here, diagnosis was based on electrophysiologic examination and above all on muscular biopsy. CONCLUSION: The occurrence of an acute toxic myopathy should always be taken into account, considering the high number of patients admitted with respiratory failure requiring steroid treatment and curare administrative for mechanical ventilation. It therefore seems reasonable to reduce steroid therapy as soon as possible with a periodic suspension of curare administration. Curare usage should be critically evaluated. Some basic examination such as serum CPK monitoring should allow early detection of muscular damage.

Adult↗
PubMed1996

Performance on the Wisconsin Card Sorting Test in schizophrenia: perseveration in clinical subtypes.

Results are reported from a neuropsychological investigation of a large group of schizophrenic patients (n = 141) and normal control subjects (n = 59) who performed the Wisconsin Card Sorting Test (WCST). The schizophrenic patients were divided into two DSM-III-R diagnostic subgroups: paranoid and nonparanoid schizophrenia. The performance of the WCST by schizophrenic patients was poor compared with that by normal control subjects; furthermore, paranoid patients made a higher number of perseverative errors than did nonparanoid patients. The deficit in WCST performance, which has been widely reported to characterize patients with schizophrenia, appears to be related to the clinical profile and neuropathological differences that contribute to the heterogeneity of the disorder.

Adult↗
PubMed1996

Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients.

We describe pulsed-field gel electrophoresis (PFGE) analysis of 10 unrelated Italian families and seven isolated cases with hereditary neuropathy with liability to pressure palsies (HNPP). Our sample includes patients with different clinical features, varying from classical liability to pressure palsies to ingravescent polyneuropathy. The frequency and the uniformity in size of the 17p11.2 deletion was evaluated by using cosH1 probe from the Charcot-Marie-Tooth neuropathy type 1A (CMT1A)-REP region. The presence of the deletion was demonstrated in all our patients; furthermore, the deletion was of identical size, although our patients had different clinical features. Molecular analysis of the 17p11.2 region by PFGE method proved to be a reliable and non-invasive method of diagnosis in HNPP cases both familial and isolated.

DNA Probes↗
PubMed1996

Task-dependent effects evoked by foot muscle afferents on leg muscle activity in humans.

The effect of low intensity electrical stimulation of the posterior tibial nerve (PTN) at the ankle on the active triceps surae (TS) muscles was studied in normal subjects, both in a prone position and while standing. PTN stimulation regularly evoked the H-reflex in the flexor digitorum brevis and, in the prone position, a short-latency facilitatory effect in the soleus muscle. During standing, the facilitatory effect was preceded by a clear-cut reduction in electromyograph (EMG) activity. The inhibition-facilitation sequence was evoked in the gastrocnemii under both conditions, on average, though individual differences were present. An EMG modulation similar to that observed under standing conditions was present also in the prone position when subjects pressed the sole of the foot against the wall. Stimulation of sural or digital nerves did not evoke similar effects. It is concluded that foot muscle afferents establish oligosynaptic connections transmitting mixed effects to the TS motoneuronal pool, and that contact with the sole of the foot plays an enabling role for the inhibitory pathway directed to the soleus muscle.

Adult↗
PubMed1995

Wisconsin Card Sorting Test performance in obsessive-compulsive disorder: no evidence for involvement of dorsolateral prefrontal cortex.

Wisconsin Card Sorting Test (WCST) performances were studied in 33 patients with obsessive-compulsive disorder (OCD) and 33 age-, sex-, and education-matched normal comparison subjects; the OCD patients were divided into four subgroups on the basis of their symptomatology. Neither the two groups of subjects nor the four OCD subgroups differed on any of the WCST neuropsychological indices. No relationship was demonstrated between test performance and clinical-epidemiological characteristics of the OCD patients. All of the OCD patients were being treated with fluvoxamine maleate, which improves OCD symptoms and could also improve WCST performances. Nevertheless, no remarkable differences in the WCST indices were observed in patients treated with fluvoxamine when compared with patients who had not received a specific therapy for at least 3 weeks. Since the WCST is widely considered sensitive to dysfunction of the dorsolateral prefrontal cortex, our results do not support the involvement of that brain region in OCD.

Anti-Anxiety Agents↗
PubMed1995

Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding.

We describe three patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs) [15]. Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy. We previously reported a genetic study on these three patients, which failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the peripheral myelin protein gene (PMP-22) and suggested an autosomal recessive (AR) inheritance. In this study we described the absence of the most common mutations, which characterized other forms of hereditary motor and sensory neuropathy (HMSN). In particular the absence of molecular changes in the PMP-22 gene definitively sets HMSN with MOs apart from the more common CMT1A, hereditary neuropathy with liability to pressure palsies (HNPP) and progressive sensory-motor polyneuropathy with tomaculous changes at sural nerve biopsy.

Charcot-Marie-Tooth Disease↗
PubMed1995

Frontal lobe dysfunction in schizophrenia and obsessive-compulsive disorder: a neuropsychological study.

Converging evidence suggests there is a specific role of dorso-lateral-prefrontal cortex (DLPC) in schizophrenic disorders and of orbito-frontal cortex (OFC) in obsessive-compulsive disorder (OCD). Here, 25 schizophrenic and 25 OCD patients were evaluated with Wisconsin Card Sorting Test and Object Alternation Test; neuropsychological tools sensitive to DLPC and OFC damage, respectively; and compared with 25 subjects of a control group. Moreover, they all underwent Weigl's Sorting Test and the Word Fluency Test to assess global frontal functioning. The results indicated a DLPC deficit in schizophrenia and an OFC involvement in OCD. These data suggest that functional disorders of the central nervous system can be explored with neuropsychological instruments.

Adult↗
PubMed1995

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

Hereditary neuropathy with a liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent pressure palsies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern blotting and fluorescent in situ hybridization analysis we confirm the presence of a 17p11.2 deletion in familial and in isolated cases of HNPP, suggesting that molecular analysis of the 17p11.2 region could also be a reliable and non-invasive method of diagnosis in sporadic cases, where a correct diagnosis usually requires a nerve biopsy. Although HNPP is a mild disease and not all patients seek medical attention, a presymptomatic diagnosis is useful for assessing the risk during genetic counselling, due to the inheritance of the mutation.

Chromosome Deletion↗
PubMed1995

Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion.

We examined for the presence of 17p11.2 deletion, by Southern blotting and fluorescent in situ hybridization, 3 cases with progressive sensory-motor polyneuropathy and diffuse tomaculous changes at sural nerve biopsy. We demonstrated in all the cases the 17p11.2 deletion, previously reported in hereditary neuropathy with pressure palsy, an inherited disorder of the peripheral nervous system with similar pathologic changes but a different clinical phenotype. The molecular study of the 17p11.2 region should be considered as a non invasive method for differential diagnosis in selected cases of progressive polyneuropathy.

Aged↗
PubMed1995

p53 oncoprotein overexpression correlates with mutagen-induced chromosome fragility in head and neck cancer patients with multiple malignancies.

In this study, we analysed immunocytochemically p53 expression in first primary and second primary cancers from 25 head and neck cancer patients (HNCPs) with multiple malignancies in comparison with oncoprotein expression in tumour tissues from 25 historical HNCP controls with single cancer in a match-paired analysis. Moreover, we investigated bleomycin-induced chromosome fragility in both groups of HNCPs and in 21 additional healthy controls. Thirty-nine out of 75 tumour specimens analysed (52%) showed positive p53 immunostaining. Eleven out of 25 (44%) from single cancer patients and 28 out of 50 (56%) tumours from HNCPs with multiple malignancies were p53 positive. In the group of multiple primary cancers, nine patients (36%) showed positive staining of both first and second primaries, whereas six (24%) had positive labelling of first primary cancer but not of the subsequent second primary, four (16%) patient showed p53 expression only in the second primary cancer and six (24%) patients showed no p53 immunoreactivity in both tumours. Chromosomal analysis demonstrated a higher sensitivity to clastogens of HNCPs with multiple tumours than of HNCPs with a single cancer (P < 0.01), and a significant correlation between chromosome fragility and p53 overexpression (P < 0.01) only in HNCPs with multiple malignancies more than in those with single head and neck cancer (P = 0.11). Moreover, we found that patients with p53-positive staining of both first and second primaries showed a statistically significant higher mutagen sensitivity than those with a single p53 immunoreactive tumour or those in whom both cancers were p53 negative (P < 0.01). Our data suggest that subjects with increased susceptibility to carcingogens after exposure to tobacco or alcohol are at higher risk for multiple cancers in which one of the most common genetic events is aberrant p53 expression.

Aged↗
PubMed1994

Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases.

We describe 3 patients affected by a congenital motor and sensory neuropathy with excessive myelin outfoldings (MOs). Clinical and electrophysiological features supported the diagnosis of hereditary motor and sensory neuropathy (HMSN). The genetic study failed to demonstrate either the duplication in chromosome 17p11.2 or the mutations at exons 1 and 2 of the myelin protein gene, PMP-22, recently observed in HMSN type Ia, and suggested an autosomal recessive (AR) inheritance. Sural nerve biopsy revealed a demyelinating process with prominent hypertrophic changes and excessive MOs formation. The percentage of MOs was significantly higher than in 3 age-matched HMSN Ia patients. MOs were morphologically and morphometrically different from tomacular-like thickenings of myelin. Myelin thickness was significantly lower than in the three HMSN Ia controls and linear regression showed a thinner myelin related to axon diameter. The reported cases demonstrate that HMSN with MOs is a well defined variant of HMSN and that a primary defect in the myelination process may be proposed as a possible pathogenic mechanism.

Adolescent↗
PubMed1994

An assessment of the Wisconsin Card Sorting Test as an indicator of liability to schizophrenia.

In order to test the hypothesis that a poor performance in the Wisconsin test (WCST) may be an indicator of liability to schizophrenia, we compared the WCST performances of patients with DSM III-R schizophrenia, normal controls, and patients with schizotypal personality disorder (SZT PD). While schizophrenic patients performed significantly worse than subjects in the other two groups, schizotypal and normal subjects showed no significant differences in the WCST execution. Moreover, patients with SZT PD with or without positive family history for the schizophrenic spectrum had similar WCST performances. Our observations are in keeping with other studies employing the WCST in paradigms of heightened liability to schizophrenia, and suggest that a poor performance in the test is more probably a feature of the disease process, than a trait marker of vulnerability to the illness demonstrable in high-risk subjects.

Adult↗
PubMed1994

17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.

We investigated the presence of duplication in chromosome 17p11.2 in 4 individuals with sporadic Charcot-Marie-Tooth disease (CMT 1) and 1 isolated case where a definite differential diagnosis between CMT 1 and Déjérine-Sottas disease was not achieved. The 5 affected cases and their parents and relatives were submitted to a complete clinical, neurophysiologic and genetic evaluation. A sural nerve biopsy was performed in all the isolated patients. Paternity was tested and confirmed. The presence of DNA duplication was detected in all the sporadic cases and was absent in all parents and relatives, thus confirming that a de novo dominant mutation is commonly present also in patients without a familial history and that there is a practical relevance of the genetic study in distinguishing isolated cases of CMT 1 from other forms of hereditary motor and sensory neuropathies or demyelinating neuropathies.

Adolescent↗