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Biomedical subjects

M Abbruzzese

Publications and source records attributed to M Abbruzzese.

At least 19 recordsLinked to original sources
PubMed2002

Neutrophilic eccrine hidradenitis secondary to topotecan.

BACKGROUND: Neutrophilic eccrine hidradenitis (NEH) is a self-restricted inflammatory condition, usually secondary to chemotherapeutic agents and less frequently to other drugs such as zidovudine or various infections. NEH clinical features include erythematous, occasionally painful nodules and plaques. Histological examinations reveal neutrophilic infiltrates and degeneration of eccrine glands. METHODS: A 45-year-old female was treated with topotecan and colony-stimulating factor for ovarian cancer. RESULTS: The erythematous and slightly pruritic plaques on the upper and lower limbs and ear lobes appeared approximately 1 week after chemotherapy and spontaneously subsided in about 10 days, only to recur after the next drug dose. A skin biopsy revealed NEH; all skin cultures were negative. CONCLUSION: It is believed that this patient developed topotecan-induced NEH; this relationship with therapy rather than the underlying disease rules out a paraneoplastic reaction, and negative cultures excluded infectious causes. In addition, since skin lesions recurred after CSF was discontinued, this agent was not involved. Studies relating NEH to topotecan, a topoisomerasa I inhibitor, have not reported such an event in the literature.

Antineoplastic Agents↗
PubMed2001

PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A.

Charcot-Marie-Tooth 1A (CMT1A) neuropathy is caused by duplication of the peripheral myelin protein 22 (PMP22) gene, leading to protein overexpression. Although this protein has a role in regulating Schwann cell growth and peripheral myelin compaction, how altered concentrations of PMP22 impair myelination is unknown. We established dorsal root ganglia (DRG) cultures from a transgenic rat overexpressing PMP22 (PMP22tg) to study the behavior of PMP22tg Schwann cells in early stages of development and myelination. We used reverse transcriptase-polymerase chain reaction and light and electron microscopy to study PMP22 expression and myelin formation. Myelin ultrastructure was evaluated in sural nerves from CMT1A patients to compare experimental and human findings. PMP22tg DRG cultures contained a greater number of internodes devoid of myelin, in the absence of remyelination, and increased periodicity of myelin lamellae compared with normal cultures. Widening of myelin lamellae was also observed in CMT1A biopsy specimens. Our results suggest that both functions of PMP22, in regulating Schwann cell differentiation and contributing to peripheral myelin compaction, are affected by its overexpression. The presence of similar myelin abnormalities in PMP22tg cultures and human nerves emphasizes the importance of developing in vitro models of hereditary neuropathies to study their underlying pathomechanisms.

Animals↗
PubMed2001

Insulin treatment enhances expression of IGF-I in sural nerves of diabetic patients.

We studied the expression of insulin-like growth factor I (IGF-I) and its receptor in sural nerves from 8 diabetic patients divided into insulin-treated (IT) and non-insulin-treated (NIT) groups, compared with 5 patients with axonal neuropathies and 4 control patients (undergoing biopsies for diagnostic purposes). Insulin-like growth factor I mRNA levels did not differ in diabetic cases compared with control subjects. In sural nerves from IT patients and axonal neuropathies, IGF-I expression was higher than in NIT subjects and diagnostic controls. Changes in IGF-I receptor mRNA levels paralleled those of the ligand. Insulin-like growth factor I immunoreactivity was higher in nerves undergoing axonal degeneration and higher in IT than NIT diabetic patients and diagnostic controls. These findings suggest that insulin treatment increases IGF-I expression in diabetic nerves. Our data do not support the hypothesis of an absolute IGF-I deficiency in human diabetic neuropathy. A Schwann cell's incapacity to increase IGF-I expression after severe nerve damage, as happens in axonal neuropathies, may be a cofactor in the pathogenesis of diabetic neuropathy.

Adult↗
PubMed2001

Postvibration depression of the H-reflex as a result of a dual mechanism: an experimental study in humans.

Changes in amplitude of the soleus H (S(H))-reflex and its neurographic correlates (P(1) and P(2) waves) after vibration of the soleus muscle have been evaluated as a function of mechanical stimulation frequency, duration of the conditioning train, and test stimulus intensity. Additional experiments aimed at assessing the nervous system mechanisms underlying the postvibration depression (PVD) have been performed. In particular, homonymous (S(HMR) or S(H)) versus heteronymous (S(HTR)) soleus response, evoked respectively by tibial nerve and femoral nerve electrical stimulation, the effectiveness of sub-H threshold tibial nerve conditioning volleys on the S(HTR), and the respective effects of a brief passive stretching of the quadriceps and soleus muscles on the recovery of both the S(HMR) and S(HTR) after vibration of the homologous muscle were investigated under suitable experimental conditions. It was found that PVD occurs in the absence of changes in amplitude of the P(1) wave and the S(HTR), is paralleled by a reduced effectiveness of tibial nerve-conditioning volleys on the S(HTR) and is shortened consistently by brief passive stretching of the homologous muscle. It follows that PVD may be the result of a long-lasting reduction of the transmitter release from Ia presynaptic terminals depending, at least in part, on a protracted postvibration Ia afferent discharge caused by spindles thixotropy. These findings may provide a better understanding of the pathophysiologic mechanisms underlying spasticity in humans.

Adult↗
PubMed2000

Prevalence of cutaneous manifestations in 200 patients with eating disorders.

BACKGROUND: Eating disorders are increasing and show a variety of symptoms. They mainly include anorexia nervosa (AN), bulimia nervosa (BN), and eating disorders not specified (EDNOS). They predominate in females and represent an important danger, especially in teenagers. In serious cases, they may be life-threatening. Objective To determine the prevalence of cutaneous findings in patients with eating disorders and to compare the results with those found in the literature. METHODS: An observational, transverse, and prospective study was performed. Two hundred patients of recent admission to ALUBA (association that fights against BN and AN), a psychiatric unit for eating disorders, were included: 122 BN; 62 AN; 16 EDNOS. RESULTS: Patients with eating disorders show dermatologic manifestations (alopecia, xerosis, hypertrichosis, caries, nail fragility) that are secondary to starvation. Russell's sign, seen as calluses on the dorsal aspect of the hands, is a consequence of self-induced vomiting and the local trauma of the superior incisors. This sign represents a compensatory behavior to overeating and predominates in the BN group. CONCLUSION: The recognition of dermatologic signs could be of immense value and could lead to the early diagnosis and treatment of these eating disorders.

Adolescent↗
PubMed2000

Acute axonal form of Guillain-Barré syndrome in a multiple sclerosis patient: chance association or linked disorders?

Multiple sclerosis (MS) is characterized by inflammation, demyelination and gliosis, involving the central nervous system (CNS) and commonly sparing the peripheral nervous system (PNS). Coexistence of CNS and PNS chronic demyelination has been rarely demonstrated in chronic inflammatory demyelinating polyradiculoneuropathies (CIDP) and in MS, but the occurrence of acute polyradiculoneuropathy in a patient with MS is even more unusual. We describe the case of a woman with relapsing-remitting MS who presented with an acute severe tetraparesis. Cerebrospinal fluid (CSF) examination together with neurophysiological data and sural nerve biopsy study demonstrated an axonal form of Guillain-Barré Syndrome (GBS). It remains unresolved if the association of an axonal form of GBS and MS is fortuitous or, on the contrary, is indicative of the coexistence in some individuals of common pathogenetic mechanisms.

Acute Disease↗
PubMed1999

A SOD1 gene mutation in a patient with slowly progressing familial ALS.

We report a new missense mutation (Gly12Arg) [corrected] in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS). The clinical course showed an unusually slow progression. The enzymatic activity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Arg [corrected] mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure.

Amyotrophic Lateral Sclerosis↗
PubMed1999

Nevoid keratosis of the nipple.

A patient with nevoid keratosis of the nipple is described. The clinical features, histology, therapy, and prognosis are discussed.

Adult↗
PubMed1999

Granulocyte-macrophage colony-stimulating factor activity in cerebrospinal fluid.

OBJECTIVES: The purpose of this study was to analyse the presence of the granulocyte-macrophage colony-stimulating factor (GM-CSF) in human cerebrospinal fluid (SF) of patients affected by multiple sclerosis (MS) in comparison with non-inflammatory neurological diseases. MATERIAL AND METHODS: All SFs were collected from 59 patients for diagnostic purpose. The presence of GM-CSF was revealed by measuring its activity and by immunoassay. The data obtained were statistically evaluated. RESULTS: We found that GM-CSF is constitutively present in human SF; this presence was confirmed by its stimulating activity of colony-forming-unit granulocyte-macrophage (CFU-GM) production. No significant changes of the GM-CSF concentration in the SFs were observed among different neurological disorders (degenerative or vascular) and MS. CONCLUSION: Our data suggest that GM-CSF is a constitutive component of human SF, relatively uninfluenced by the different morbid conditions of the nervous system.

Blotting, Western↗
PubMed1998

Presynaptic and postsynaptic mechanisms underlying H-reflex changes produced by a selective voluntary contraction.

Concurrent recordings of (i) the soleus H reflex and (ii) the underlying afferent (P1) and efferent (P2) neural volleys were performed during a protracted, moderate, isometric, voluntary contraction of the soleus (S) muscle, and the subsequent release period. Besides the expected enhancement of the H reflex, muscular contraction caused a significant reduction in the corresponding central delay (as extrapolated from variations of P1-P2 interval), while the opposite trend occurred during the release phase. Control experiments, based on (a) neural blockade below the stimulation site, (b) muscle stretching at the end of the muscular contraction, (c) changes in amplitude of homonymous and heteronymous S responses, and (d) variations in effectiveness of homonymous and heteronymous conditioning volleys on the S motoneuronal pool, showed that both voluntary contraction and the subsequent release period are associated with a reduced effectiveness of la afferents, while postsynaptic motoneuronal responsiveness is significantly modified only during the actual contraction time.

Adult↗
PubMed1997

Testing for pre-synaptic and post-synaptic changes in the soleus H reflex pathway following selective muscle vibration in humans.

Muscle vibration does not affect post-synaptic excitability of the corresponding motoneuronal pool, the concurrent depression of the monosynaptic reflex resulting from a pre-motoneuronal block of Ia spindle afferents. Indeed (1) both homonymous and heteronymous soleus responses (to electrical stimulation of the posterior tibial nerve (TN) and femoral nerve (FN), respectively) are clearly depressed during selective vibration of the homologous muscle (namely soleus (S) or quadriceps (Q)), but remain completely unchanged during vibration of the heterologous muscle (i.e. Q or S); (2) the effectiveness of facilitatory conditioning of FN and TN Ia afferents, respectively on the S motoneuronal pool is definitely reduced during vibration of the homologous muscle (namely Q and S).

Adult↗
PubMed1997

Correlation between PMP-22 messenger RNA expression and phenotype 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, which includes the gene for the peripheral myelin protein 22 (PMP-22). A "gene dosage" effect is probably the mechanism underlying HNPP, but the amount of PMP-22 mRNA in sural nerves of HNPP patients is highly variable and the role of PMP-22 underexpression in impairing myelination has yet to be clarified. We have studied 6 genetically proven HNPP patients, to evaluate the relationship between PMP-22 mRNA levels, and clinical, neurophysiological, and neuropathological findings. Underexpression of PMP-22 mRNA correlates with disease severity and with mean axon diameter and g ratio, but not with myelin thickness, number of "tomacula," or nerve conduction parameters. Our findings further confirm that underexpression of PMP-22 is the main pathogenetic mechanism underlying the severity of clinical symptoms and signs in HNPP. Smaller axons in sural nerves of HNPP patients with lower PMP-22 levels suggests that underexpression of PMP-22 may also affect axon development.

Charcot-Marie-Tooth Disease↗
PubMed1997

The selective breakdown of frontal functions in patients with obsessive-compulsive disorder and in patients with schizophrenia: a double dissociation experimental finding.

In an our recent preliminary study, we reported the neuropsychological finding of a double dissociation in the frontal lobe functioning between 25 OCD patients and 25 schizophrenics. The first group performed normally in the Wisconsin Card Sorting Test (WCST), which is considered sensitive to Dorso-Lateral Prefrontal Cortex (DLPFC) dysfunctions and abnormally to the Object Alternation Test (OAT), which has been proposed as a tool sensitive to Orbito-Frontal Cortex (OFC); on the other hand, schizophrenics performed abnormally to the WCST and normally to the OAT. The present study, conducted on a new sample of 60 schizophrenic in-patients, 60 OCD in-patients and 30 normal subjects, matched according to age, educational level, handedness and duration of illness, confirms our preliminary data and it suggests a more selective impairment of OFC system in OCD and of DLPFC in schizophrenia. Moreover, schizophrenic patients with paranoid subtype showed worse WCST performance compared to non-paranoid subtype. Our results could open some interesting perspectives about the neuroanatomical systems involved in these two major psychiatric illnesses and so, about their pharmacological treatment, on the basis of the prominent catecholaminergic characterization of the DLPFC and, respectively, the cholinergic innervation of the OFC.

Adult↗