CARLOS OTTO HEISE
Índice h a partir de 2011
14
Projetos de Pesquisa
Unidades Organizacionais
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
2 resultados
Resultados de Busca
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- 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.
- Surgical treatment of typical peripheral schwannomas: the risk of new postoperative deficits(2013) SIQUEIRA, Mario G.; SOCOLOVSKY, Mariano; MARTINS, Roberto S.; ROBLA-COSTALES, Javier; MASI, Gilda Di; HEISE, Carlos Otto; COSAMALON, Jose GarciaAlthough peripheral schwannomas can be resected without postoperative neurological complications, surgeons must anticipate the possibility that new neurological deficits could develop. In order to evaluate the risk of neurological complications in the surgical treatment of these tumours, we performed a retrospective review of cases involving schwannomas in the extremities, as well as an analysis of the related literature. We reviewed a combined series of 72 schwannomas from the extremities presenting for surgical excision. Meticulous analysis of the files was undertaken, searching for pre-operative findings that could be more frequent in patients with surgical complications. The incidence, severity, and transitory nature of post-operative complications in our series was observed and compared against the literature. Eleven patients (15.2 %) developed new neurological deficits after surgery: sensory disturbance in seven cases, motor weakness in three, and a single wound hematoma. Most of these complications were temporary. Statistical analysis demonstrated a positive relationship between the presence of complications and both patient age under 50 years (p = 0.02) and tumours greater than 3 cm in greatest diameter (p = 0.02). Although relatively infrequent, the potential for novel post-operative deficits after the surgical treatment of peripheral schwannomas does exist and should be included during pre-operative counseling.