EDUARDO DE PAULA ESTEPHAN
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
9 resultados
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Agora exibindo 1 - 9 de 9
- Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia(2020) CALDAS, Vitor Marques; HEISE, Carlos Otto; KOUYOUMDJIAN, Joao Aris; ZAMBON, Antonio Alberto; SILVA, Andre Macedo Serafim; ESTEPHAN, Eduardo de Paula; ZANOTELI, EdmarThis study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulation (RNS) in congenital myasthenic syndrome (CMS), chronic progressive external ophthalmoplegia (CPEO), and congenital myopathies (CM). Jitter was obtained with a concentric needle electrode during voluntary activation of the Orbicularis Oculi muscle in CMS ( n = 21), CPEO ( n = 20), and CM ( n = 18) patients and in controls ( n = 14). RNS (3 Hz) was performed in six different muscles for all patients ( Abductor Digiti Minimi, Tibialis Anterior, upper Trapezius, Deltoideus, Orbicularis Oculi, and Nasalis). RNS was abnormal in 90.5% of CMS patients and in only one CM patient. Jitter was abnormal in 95.2% of CMS, 20% of CPEO, and 11.1% of CM patients. No patient with CPEO or CM presented a mean jitter higher than 53.6 mu s or more than 30% abnormal individual jitter (> 45 mu s). No patient with CPEO or CM and mild abnormal jitter values presented an abnormal decrement. Jitter and RNS assessment are valuable tools for diagnosing neuromuscular transmission abnormalities in CMS patients. A mean jitter value above 53.6 mu s or the presence of more than 30% abnormal individual jitter (> 45 mu s) strongly suggests CMS compared with CPEO and CM.
conferenceObject SENSITIVITY OF NEUROPHYSIOLOGIC TESTS REGARDING THE NEUROMUSCULAR JUNCTION IN PATIENTS WITH CONGENITAL MYASTHENIC SYNDROMES(2019) CALDAS, Vitor Marques; ESTEPHAN, Eduardo de Paula; SILVA, Andre Macedo Serafim da; MENDONCA, Rodrigo de Holanda; HEISE, Carlos Otto; ZANOTELI, Edmar- 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, EdmarThe 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.
- Teaching Video NeuroImage: Reflex Facilitation in Lambert-Eaton Myasthenic Syndrome(2021) CAMELO-FILHO, Antonio Edvan; ESTEPHAN, Eduardo de Paula; HEISE, Carlos Otto; ZANOTELI, Edmar
- A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndrome(2017) ESTEPHAN, E.; SILVA, A.; MENDONCA, R.; CALDAS, V.; ZAMBON, A.; MARCHIORI, P.; HEISE, C.; REED, U.; ZANOTELI, E.
conferenceObject Concentric Needle Voluntary Jitter Assessment in Patients with Mitochondrial Myopathy(2019) CALDAS, Vitor Marques; ESTEPHAN, Eduardo de Paula; SILVA, Andre Macedo Serafim da; MENDONCA, Rodrigo de Holanda; CARVALHO, Mary Souza de; HEISE, Carlos Otto; ZANOTELLI, Edmar- Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis(2022) ESTEPHAN, Eduardo P.; ZAMBON, Antonio A.; THOMPSON, Rachel; POLAVARAPU, Kiran; JOMAA, Danny; TOPF, Ana; HELITO, Paulo V. P.; HEISE, Carlos O.; MORENO, Cristiane A. M.; SILVA, Andre M. S.; KOUYOUMDJIAN, Joao A.; MORITA, Maria da Penha; REED, Umbertina C.; LOCHMULLER, Hanns; ZANOTELI, EdmarObjectives To present phenotype features of a large cohort of congenital myasthenic syndromes (CMS) and correlate them with their molecular diagnosis. Methods Suspected CMS patients were divided into three groups: group A (limb, bulbar or axial weakness, with or without ocular impairment, and all the following: clinical fatigability, electrophysiology compatible with neuromuscular junction involvement and anticholinesterase agents response), group B (limb, bulbar or axial weakness, with or without ocular impairment, and at least one of additional characteristics noted in group A) and group C (pure ocular syndrome). Individual clinical findings and the clinical groups were compared between the group with a confirmed molecular diagnosis of CMS and the group without molecular diagnosis or with a non-CMS molecular diagnosis. Results Seventy-nine patients (68 families) were included in the cohort: 48 in group A, 23 in group B and 8 in group C. Fifty-one were considered confirmed CMS (30 CHRNE, 5 RAPSN, 4 COL13A1, 3 DOK7, 3 COLQ, 2 GFPT1, 1 CHAT, 1 SCN4A, 1 GMPPB, 1 CHRNA1), 7 probable CMS, 5 non-CMS and 16 unsolved. The chance of a confirmed molecular diagnosis of CMS was significantly higher for group A and lower for group C. Some individual clinical features, alterations on biopsy and electrophysiology enhanced specificity for CMS. Muscle imaging showed at least mild alterations in the majority of confirmed cases, with preferential involvement of soleus, especially in CHRNE CMS. Conclusions Stricter clinical criteria increase the chance of confirming a CMS diagnosis, but may lose sensitivity, especially for some specific genes.
article 8 Citação(ões) na Scopus Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation(2017) ABATH NETO, Osorio; HEISE, Carlos Otto; MORENO, Cristiane de Araujo Martins; ESTEPHAN, Eduardo de Paula; MESROB, Lilia; LECHNER, Doris; BOLAND, Anne; DELEUZE, Jean-Francois; OLIVEIRA, Acary Souza Bulle; REED, Umbertina Conti; BIANCALANA, Valerie; LAPORTE, Jocelyn; ZANOTELI, Edmar- Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis(2017) GRATIVVOL, Ronnyson Susano; SILVA, Andre Macedo Serafim da; GUEDES, Brino Fukelmann; ESTEPHAN, Eduardo de Paula; MENDONCA, Rodrigo de Holanda; ZAMBON, Antonio Alberto; HEISE, Carlos Otto; ZANOTELI, Edmar