P E Marchiori

Publications (77)76.05 Total impact

• Article: Recurrent neuromyelitis optica in Brazilian patients: clinical, immunological, and neuroimaging characteristics.

  T Adoni, A M M Lino, P D da Gama, S L Apóstolos-Pereira, P E Marchiori, F Kok, D Callegaro
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  ABSTRACT: Neuromyelitis optica has not been thoroughly studied in Brazilian patients following the discovery of NMO-IgG and its specific antigen aquaporin-4. In this study we aimed to describe the clinical NMO-IgG immunological status and neuroimaging characteristics of recurrent neuromyelitis optica in a series Brazilian patients. We undertook a retrospective study of 28 patients with recurrent neuromyelitis optica, according to 1999 Wingerchuk's diagnostic criteria. Data on NMO-IgG status, clinical features, and MRI findings were analyzed. Three men and 25 women were evaluated. Median age at onset of disease was 26 years (range 7-55); median time of follow-up was 7 years (range 2-14). The mean time elapsed between the first and the second attack was 17 months (median 8.5; range 2-88). NMO-IgG was detected in 18 patients (64.3%). Four patients died due to respiratory failure. Most patients presented with cervical (36%) and cervical-thoracic myelitis (46.4%). Holocord lesion was the most common pattern of involvement (50%) on the axial plane. We did not find a statistical association between myelitis extension and NMO-IgG result. Our series of Brazilian patients showed a younger age of onset than previously reported. In our series, in contrast to previous reports, there was no correlation between the extension of myelitis and NMO-IgG positivity.
  Multiple Sclerosis 12/2009; 16(1):81-6. · 4.26 Impact Factor
• Article: Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation.

  D C de Andrade, S Baudic, N Attal, C L Rodrigues, P Caramelli, A M M Lino, P E Marchiori, M Okada, M Scaff, D Bouhassira, M J Teixeira
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  ABSTRACT: Hereditary sensory and autonomic neuropathy (HSAN) type V is a very rare disorder. It is characterized by the absence of thermal and mechanical pain perception caused by decreased number of small diameter neurons in peripheral nerves. Recent genetic studies have pointed out the aetiological role of nerve growth factor beta, which is also involved in the development of the autonomic nervous system and cholinergic pathways in the brain. HSAN type V is usually reported not to cause mental retardation or cognitive decline. However, a structured assessment of the cognitive profile of these patients has never been made. We performed a throughout evaluation of four HSAN type V patients and compared their performance with 37 normal individuals. Our patients showed no cognitive deficits, not even mild ones. Although newer mutations on this and related disorders are continuously described, their clinical characterization has been restricted to the peripheral aspects of these conditions. A broader characterization of this rare disorder may contribute to better understand the mechanisms of the nociceptive and cognitive aspects of pain.
  European Journal of Neurology 08/2008; 15(7):712-9. · 3.69 Impact Factor
• Article: Isolated CNS Whipple disease with a variant of oculofacial-skeletal myorhythmia (OFSM).

  D Ciampi de Andrade, R C Nogueira, L T Lucato, P E Marchiori, L R Machado, M J Teixeira, M Scaff
  Neurology 10/2007; 69(11):E12. · 8.31 Impact Factor
• Article: Human T-cell lymphotropic virus type I (HTLV-I) proviral DNA viral load among asymptomatic patients and patients with HTLV-I-associated myelopathy/tropical spastic paraparesis.

  P A Montanheiro, P A Montanheito, A C Penalva de Oliveira, M P Posada-Vergara, A C Milagres, C Tauil, P E Marchiori, A J S Duarte, J Casseb
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  ABSTRACT: To evaluate the human T-cell lymphotropic virus type I (HTLV-I) proviral DNA load among asymptomatic HTLV-I-infected carriers and patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), real time PCR using TaqMan probes for the pol gene was performed in two million peripheral blood mononuclear cells (PBMC). The albumin gene was the internal genomic control and MT2 cells were used as positive control. The results are reported as copies/10,000 PBMC, and the detection limit was 10 copies. A total of 89 subjects (44 HAM/TSP and 45 healthy HTLV-I-infected carriers) followed up at the Institute of Infectious Diseases "Emilio Ribas" and in the Neurology Division of Hospital of Clínicas were studied. The asymptomatic HTLV-I-infected carriers had a median number of 271 copies (ranging from 5 to 4756 copies), whereas the HAM/TSP cases presented a median of 679 copies (5-5360 copies) in 10,000 PBMC. Thus, HAM/TSP patients presented a significantly higher HTLV-I proviral DNA load than healthy HTLV-I carriers (P = 0.005, one-way Mann-Whitney test). As observed in other persistent infections, proviral DNA load quantification may be an important tool for monotoring HTLV-I-infected subjects. However, long-term follow-up is necessary to validate this assay in the clinical setting.
  Brazilian Journal of Medical and Biological Research 12/2005; 38(11):1643-7. · 1.13 Impact Factor
• Article: Human T-cell lymphotropic virus type I (HTLV-I) proviral DNA viral load among asymptomatic patients and patients with HTLV-I-associated myelopathy/tropical spastic paraparesis

  P A Montanheiro, Penalva de Oliveira A.C, M.P. Posada-Vergara, A.C. Milagres, C. Tauil, P E Marchiori, A J S Duarte, J Casseb
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  ABSTRACT: To evaluate the human T-cell lymphotropic virus type I (HTLV-I) proviral DNA load among asymptomatic HTLV-I-infected carriers and patients with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), real time PCR using TaqMan probes for the pol gene was performed in two million peripheral blood mononuclear cells (PBMC). The albumin gene was the internal genomic control and MT2 cells were used as positive control. The results are reported as copies/10,000 PBMC, and the detection limit was 10 copies. A total of 89 subjects (44 HAM/TSP and 45 healthy HTLV-I-infected carriers) followed up at the Institute of Infectious Diseases "Emilio Ribas" and in the Neurology Division of Hospital of Clínicas were studied. The asymptomatic HTLV-I-infected carriers had a median number of 271 copies (ranging from 5 to 4756 copies), whereas the HAM/TSP cases presented a median of 679 copies (5-5360 copies) in 10,000 PBMC. Thus, HAM/TSP patients presented a significantly higher HTLV-I proviral DNA load than healthy HTLV-I carriers (P = 0.005, one-way Mann-Whitney test). As observed in other persistent infections, proviral DNA load quantification may be an important tool for monotoring HTLV-I-infected subjects. However, long-term follow-up is necessary to validate this assay in the clinical setting.
  Brazilian Journal of Medical and Biological Research. 01/2005;
• Article: A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.

  K T Abe, A M M Lino, M T A Hirata, R C M Pavanello, M W I Brotto, P E Marchiori, M Zatz
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  ABSTRACT: The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype, ranging from asymptomatic to severely affected. These findings suggest that the fourth transmembrane domain of the PMP22 gene may play an important role, although the intrafamilial clinical variability reinforces the observation that pathogenic mutations are not always phenotype determinant and that other factors (genetic or epigenetic) modulate the severity of the clinical course.
  Neuromuscular Disorders 06/2004; 14(5):313-20. · 2.80 Impact Factor
• Source

  Available from: oxfordjournals.org

  Article: Superior orbital 'petrositis' and late ischaemic monocular blindness induced by intense UV radiation exposure.

  C A A Penatti, M L Monteiro, P E Marchiori, M Scaff
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  ABSTRACT: Many physical agents cause neuropathies. The most common are chronic pressure, vibration and temperature. In general, these lesions occur at work, as a result of accidents or through chronic exposure to the physical agent. Radiation leading to peripheral neuropathy is also related to radiotherapy in cancer treatment, as an undesirable side-effect. We present here a case report of short, intense UV radiation exposure at work, leading to delayed-onset ocular neuropathy. A clear cause-effect relationship is shown, demonstrated using magnetic resonance imaging scans. We suggest that the mechanism was thermal and ischaemic.
  Occupational Medicine 07/2002; 52(4):219-21. · 1.14 Impact Factor
• Article: [Malignant hyperthermia susceptibility in 3 patients with malignant neuroleptic syndrome].

  H C Silva, V S Bahia, R A Oliveira, P E Marchiori, M Scaff, A M Tsanaclis
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  ABSTRACT: Hyperthermia, skeletal muscle rigidity, rhabdomyolysis, acidosis and multiple system insufficiency characterize malignant hyperthermia. Anaesthetic malignant hyperthermia follows halogenated volatile agents and/or depolarizing muscle relaxants utilization. Diagnosis is based on in vitro muscle contracture in response to halothane and/or caffeine exposure. Neuroleptic malignant syndrome affects patients taking neuroleptic drugs; clinical findings include hyperthermia, extrapyramidal rigidity, acidosis, neurovegetative instability and neurological signs. We report three neuroleptic malignant syndrome patients with positive muscle contracture tests which shows that muscle from neuroleptic malignant syndrome patients may in some instances show alterations similar to those of anaesthetic malignant hyperthermia.
  Arquivos de Neuro-Psiquiatria 10/2000; 58(3A):713-9. · 0.72 Impact Factor
• Article: Magnetic resonance imaging in five patients with a tumefactive demyelinating lesion in the central nervous system.

  H C Silva, D Callegaro, P E Marchiori, M Scaff, A M Tsanaclis
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  ABSTRACT: Five patients with a tumefactive lesion were clinically followed from 1992 to 1993. Four patients were female; age ranged from 32 to 57 years, the duration of symptoms varied from 3 days to 3 years. Neurological examination disclosed dementia in two patients, aphasia in three, hemiparesis in four, hemihypoaesthesia in three, optical neuritis in two, tetraparesis with sensitive level and neurogenic bladder in one. MRI disclosed lesions with a hypersignal on images assessed at T2 and hyposignal at T1, and gadolinium heterogeneous enhancement; these lesions were located in the: a) temporooccipital region bilaterally and brain stem, b) frontoparietal white matter, c) basal ganglia, bilateral white matter and brain stem, d) left parietal region, e) cervical spinal cord, with enlargement of this region. Cerebral biopsy was performed in three patients; acute and subacute demyelinating disease was diagnosed by histological examination. Two patients had an evolutive diagnosis; exclusion of other pathologies and clinical and radiological improvement after corticotherapy, pointed to an inflammatory disease.
  Arquivos de Neuro-Psiquiatria 01/2000; 57(4):921-6. · 0.72 Impact Factor
• Article: Treatment of cervical dystonia with botulinum toxin in a patient with myasthenia gravis.

  M R Gonçalves, E R Barbosa, A A Zambon, P E Marchiori
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  ABSTRACT: We report the case of a 49-year-old woman who has the rare combination of myasthenia gravis and cervical dystonia. She was treated with botulinum toxin type A with good response and no evidence of deterioration of the myasthenic symptoms. We therefore conclude that it is possible to use botulinum toxin in the presence of defective neuromuscular transmission.
  Arquivos de Neuro-Psiquiatria 10/1999; 57(3A):683-5. · 0.72 Impact Factor
• Source

  Available from: scielo.br

  Article: Myasthenia gravis and thymoma. Evaluation of 41 patients.

  J L De Assis, A A Zambon, P S Souza, P E Marchiori
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  ABSTRACT: We evaluated the epidemiological, clinical, laboratory and therapeutical aspects of 41 patients with thymomatous myasthenia gravis. Thirty five patients (85.36%) were submitted to thymectomy. Follow-up ranged from two to 18 years. Diagnosis of thymoma was based upon clinical investigations and CT scan of the anterior mediastinum and in 11 patients supported by immunological tests of anti-striated muscle antibodies with a positive result in more than 80% of cases. Histopathologic examination of all thymomectomized patients confirmed the diagnosis of thymoma. There was a significant predominance of benign over malignant thymoma. Occurred higher prevalence of male patients and of patients over 40 years of age. The therapeutical strategy to control myasthenic clinical findings was the same as that for non-thymomatous myasthenia gravis. The corticosteroids associated to cytotoxic drugs were less often used. Radiotherapy of the anterior mediastinum was more often used in patients having invasive tumors submitted to surgery or not. With regard to survival and control of myasthenia gravis, especially in younger patients and in those submitted to early surgery, results of treatment were surprisingly favorable.
  Arquivos de Neuro-Psiquiatria 04/1999; 57(1):6-13. · 0.72 Impact Factor
• Article: [Intravenous therapy with methylprednisolone and cyclophosphamide in vasculitis of peripheral nervous system. Evaluation of 8 patients].

  A M Lino, M T Hirata, A M Baêta, A M Tsanaclis, M Scaff, P E Marchiori
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  ABSTRACT: The peripheral nervous system is frequently involved in systemic vasculitis and it may be helpful in the disease diagnosis. We report on eight patients: seven women and one man; five white, two black and one yellow; age mean 55.9 years; four had polyarteritis nodosa, one had systemic lupus erythematosus, one had isolated peripheral nerve vasculitis and one had livedoid vasculitis. All of them received endovenous therapy with "pulse" of methylprednisolone (1 g/day/3 days) and cyclophosphamide (1 g/1 day). Five patients improved, two remained unchanged and one died. The neurological improvement occurred after the third or fourth pulse and in the patients who have had a shorter time of disease.
  Arquivos de Neuro-Psiquiatria 07/1998; 56(2):274-80. · 0.72 Impact Factor
• Article: Molecular detection and isolation of human T-cell lymphotropic virus type I (HTLV-I) from patients with HAM/TSP in São Paulo, Brazil.

  A A Segurado, R B Domingues, M R Muniz, M C Fink, P E Marchiori, M Scaff, R B Lal
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  ABSTRACT: Infection with HTLV-I is etiologically linked with HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However some patients with chronic progressive paraparesis resembling HAM/TSP have been shown to be infected with HTLV-II. To clarify the role of each of these human retroviruses in the etiology of HAM/TSP in São Paulo, Brazil. A detailed serological and molecular analysis of HTLV-I/II infection was performed in a cohort of 19 patients with HAM/TSP attending a neurological clinic. Plasma samples analyzed for anti-HTLV-I/II antibodies using a Western blot assay, comprising HTLV-I (rgp46I)- and HTLV-II (rgp46II)-specific recombinant env epitopes, demonstrated reactivity to rgp46I and hence were typed as seropositive for HTLV-I. Presence of HTLV genomic sequences in peripheral blood mononuclear cells (PBMC) was sought after by PCR using consensus primers SK 110 and SK 111 for the pol region of HTLV proviral DNA followed by hybridization with type-specific probes--SK 112 (HTLV-I) and SK 188 (HTLV-II). Southern blots from all individuals hybridized with SK 112 but not with SK 188, further confirming HTLV-I infection. Cocultivation of PBMC from eight of these patients with activated lymphocytes from normal individuals resulted in active viral production, detected as presence of soluble p24gag antigen in culture supernatants. Investigation of risk factors for HTLV-I infection in these individuals revealed that five out of 19 patients studied (26.3%) had received blood transfusions previous to disease onset.
  Clinical and Diagnostic Virology 02/1998; 9(1):17-23.
• Article: Human T cell lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis in Sao Paulo, Brazil: association with blood transfusion.

  R B Domingues, M R Muniz, M L Jorge, M S Mayo, A Saez-Alquezar, D F Chamone, M Scaff, P E Marchiori
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  ABSTRACT: Human T cell lymphotropic virus type-1 (HTLV-1) associated myelopathy/tropical spastic paraparesis (HAM/TSP) has been epidemiologically linked to prior blood transfusion. The prevalence of transfusion as a risk factor for infection varies among endemic areas. Here we report the relative frequency of reported history of blood transfusion among 52 patients evaluated in Sao Paulo, Brazil. A patient reported history of blood transfusion prior to the onset of symptoms, found in 15 (28.8%) of the patients, was the most important risk factor identified in this group of patients when compared with a history of sexually transmitted diseases, homo/bisexuality, sexual promiscuity (three or more sexual partners a year), and intravenous drug use. The mean time between reported transfusions and the onset of symptoms was longer than previously reported. There was no trend toward a more severe evolution to motor inability among the HAM/TSP patients with a history of previous transfusion.
  The American journal of tropical medicine and hygiene 08/1997; 57(1):56-9. · 2.59 Impact Factor
• Source

  Available from: scielo.br

  Article: Acute orbital myositis. Case report.

  M S Bittar, M L Garcia, P E Marchiori
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  ABSTRACT: The case of 22-year old, white woman with bilateral orbital myositis following an acute upper respiratory tract infection is reported. The most important clinical findings were ocular pain, proptosis, restricted eye motility and swelling of the eyelids. The enlarged eye muscles were seen on orbital computerized tomography scan. The clinical findings of inflammatory orbital myositis and clinical response to corticotherapy are emphasized.
  Arquivos de Neuro-Psiquiatria 04/1997; 55(1):136-8. · 0.72 Impact Factor
• Source

  Available from: scielo.br

  Article: Creutzfeldt-Jakob disease. A survey of 14 patients.

  P E Marchiori, N Yasuda, H C Azevedo, M Orfão, D Callegaro, F I Yamamoto, M Scaff
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  ABSTRACT: Creutzfeldt-Jakob disease (CJD) is a transmissible disease of the nervous system causatively related to the presence of an abnormal prion protein, with dementia, myoclonic jerks, and periodic EEG activity. Fourteen patients (7 females and 7 males) ranging from 26 to 76 years of age (median 59 years) were evaluated between 1974 and 1995 at the Neurologic Clinic of São Paulo University School of Medicine. The average duration of the disease was 12 months (3.5-34 months). Early clinical findings were: behaviour changes in 7 patients, dementia in 4, visual disturbances in 4, vertigo in 2, tremor in 9, and dystonia in one. Advanced symptoms were dementia and myoclonus in all patients. Pyramidal tract dysfunction was found in 6, cerebellar ataxia in 2, seizures in 3, nystagmus and vertigo in 4, and peripheral nervous system involvement in 2. Atypical clinical forms were found in 5 patients. Periodic EEG activity was found in 10 patients. Cerebrospinal fluid evaluation showed pleocytosis in 1 patient, higher protein content in 2, and higher gamma globulin level in 2. In 10 patients anatomopathological evidence in the central nervous system confirmed the clinical diagnosis by presenting with status spongiosus. All except one patient presented with the sporadic form of the disease.
  Arquivos de Neuro-Psiquiatria 01/1997; 54(4):577-83. · 0.72 Impact Factor
• Source

  Available from: scielo.br

  Article: Evaluation of the respiratory function in myasthenia gravis. An important tool for clinical feature and diagnosis of the disease.

  P A Saraiva, J L de Assis, P E Marchiori
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  ABSTRACT: Myasthenic gravis may affect both inspiratory and expiratory muscles. Respiratory involvement occurred in almost all patients with myasthenia gravis in all clinical forms of the disease: 332 lung function tests done in 324 myasthenic patients without respiratory symptoms (age 34.6 +/- 18.3 years) were examined. Lung volumes analysis showed that all the patients of both sexes with generalized or ocular myasthenia gravis showed "myasthenic pattern". Male patients with "ocular" form only presented the "myasthenic pattern" with lung impairment and had, from the lung function point of view, a more benign behaviour. Female patients with the "ocular" form exhibited a behaviour of respiratory variables similar to that of the generalized form. It was not observed modification of the variables that suggested obstruction of the higher airways. The "myasthenic pattern" was rarely observed in other neuromuscular diseases, except in patients with laryngeal stenosis.
  Arquivos de Neuro-Psiquiatria 01/1997; 54(4):601-7. · 0.72 Impact Factor
• Article: Acute multiple mononeuropathy after accidental exposure to oven microwaves.

  P E Marchiori, H C Silva, M T Hirata, A M Lino, M Scaff
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  ABSTRACT: A patient accidentally exposed to oven microwaves developed an acute and severe dystrophy and sympathetic reflex of the right hand, a peripheral neuropathy of the digits of the left hand, and a sensory injury of the trigeminal nerve in the right side of the face. The physiopathological involvement in the injury of the peripheral nerve and the failure of analgesia with carbamazepine are emphasized. In this causalgia, relief from pain and modification of the autonomic disorders can be achieved by a sympathetic block.
  Occupational Medicine 11/1995; 45(5):276-7. · 1.14 Impact Factor
• Article: Human T lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis in São Paulo, Brazil.

  R B Domingues, M R Muniz, J R Pinho, L Bassit, M L Jorge, A S Alquezar, P E Marchiori, D F Chamone, M Scaff
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  ABSTRACT: We conducted a prospective clinical and epidemiologic evaluation of 45 cases of human T lymphotropic virus type I (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in São Paulo, Brazil. All enrolled patients had progressive chronic myelopathy and high titers of HTLV-I and HTLV-II antibodies, as determined by enzyme immunoassay and western blot. In 24 cases, the polymerase chain reaction (PCR) was performed so that HTLV-I could be distinguished from HLTV-II. The clinical and epidemiologic features of the patients from our study were similar to those of patients with HAM/TSP from other areas of endemicity for HTLV-I except that more patients in our study had received a blood transfusion prior to their illness. Despite the presence of HTLV-II virus in Brazil, all patients whose serum was tested by PCR were found to be infected with the HTLV-I virus.
  Clinical Infectious Diseases 07/1995; 20(6):1540-2. · 9.15 Impact Factor
• Article: Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.

  U C Reed, S K Marie, M W Brotto, C A Martinez, P E Marchiori, A Diament, J A Levy
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  ABSTRACT: We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed.
  Arquivos de Neuro-Psiquiatria 04/1995; 53(1):114-7. · 0.72 Impact Factor