CARLOS OTTO HEISE

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14
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LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina

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  • article 15 Citação(ões) na Scopus
    A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
    (2018) ESTEPHAN, Eduardo de Paula; SOBREIRA, Claudia Ferreira da Rosa; SANTOS, Andre Cleriston Jose dos; TOMASELLI, Pedro Jose; MARQUES JR., Wilson; ORTEGA, Roberta Paiva Magalhes; COSTA, Marcela Camara Machado; SILVA, Andre Macedo Serafim da; MENDONCA, Rodrigo Holanda; CALDAS, Vitor Marques; ZAMBON, Antonio Alberto; ABATH NETO, Osorio; MARCHIORI, Paulo Euripedes; HEISE, Carlos Otto; REED, Umbertina Conti; AZUMA, Yoshiteru; TOPF, Ana; LOCHMULLER, Hanns; ZANOTELI, Edmar
    The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, we aimed to verify the frequency of this mutation among individuals with CMS in a larger cohort of CMS patients from different areas of Brazil and to characterize clinical features of these patients. Eighty-four patients with CMS, from 72 families, were clinically evaluated and submitted to direct sequencing of the exon 2 of CHRNE. The c.130dupG mutation was found in 32 patients (23 families), with 26 patients (19 families, 26.3%) in homozygosis, confirming its high prevalence in different regions of Brazil. Among the homozygous patients, the following characteristics were frequent: onset of symptoms before 2 years of age (92.3%), little functional restriction (92.3%), fluctuating symptoms (100%), ocular muscle impairment (96.1%), ptosis (100%), limb weakness (88.4%), response to pyridostigmine (100%), facial involvement (77%), and bulbar symptoms (70.8%). The pretest probability of finding at least one allele harbouring the c.130dupG mutation was 38.1%. Selecting only patients with impaired eye movement together with limb weakness and improvement with pyridostigmine, the probability increases to 72.2%. This clinical pre-selection of patients is likely a useful tool for regions where CHRNE mutations have a founder effect. In conclusion, the CHRNE mutation c.130dupG leads to fairly benign natural course of the disease with relative homogeneity.
  • article
    Restoration of Elbow Flexion in Traumatic Upper Brachial Plexus Palsy in Adults: Outcome with Intraplexus Distal Nerve Transfers in 78 Patients
    (2018) SIQUEIRA, Mario G.; MARTINS, Roberto S.; JUNIORS, Wilson Faglioni; FORONIS, Luciano; HEISE, Carlos Otto
    Objective To present the functional outcomes of distal nerve transfer techniques for restoration of elbow flexion after upper brachial plexus injury. Method The files of 78 adult patients with C5, C6, +/- C7 lesions were reviewed. The attempt to restore elbow flexion was made by intraplexus distal nerve transfers using a fascicle of the ulnar nerve (group A, n = 43), or a fascicle of the median nerve (group B, n = 16) or a combination of both (group C, n = 19). The result of the treatment was defined based on the British Medical Research Council grading system: muscle strength