FERNANDO KOK
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
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Resultados de Busca
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conferenceObject Hypomyelinating Leukodystrophy: Clinical, Electrophysiological and Neuroimaging Characterization(2012) FREITAS, M. R.; KOK, F.; BRENNER, C.; LEITE, C. C.; GARZON, E.; MANGINI, N. N.; AMORIM, S.- Consanguineous unions and the burden of disability: A population-based study in communities of Northeastern Brazil(2012) WELLER, Mathias; TANIERI, Marina; PEREIRA, Josecleide Calixto; ALMEIDA, Ednno Dos Santos; KOK, Fernando; SANTOS, SilvanaObjectives: The aim of this study was to identify communities at high risk of transmitting recessive genetic disorders by measuring levels of endogamy and offspring's rate of disabilities. Methods: In a house-to-house population based-survey in the state of Paraiba, 20,462 couples were interviewed regarding kinship relation, number of siblings and offspring affected by mental or physical disabilities. Results: The rate of consanguineous unions in the communities ranged from 6.0% to 41.14%, showing an average value of 20.19% +/- 9.13%. The overall average inbreeding coefficient (F) was 0.00602 +/- 0.00253, ranging from 0.00134 to 0.01182. Communities situated on the backlands had an increased average value of F compared to those closer to the seashore (P = 0.024). The average rate of disabled offspring varied from 2.96% +/- 0.68% for unrelated unions to 10.44% +/- 16.86% for related couples at the level of double first cousins or uncleniece. The Spearman correlation coefficient between the overall rate of disabled offspring from all couples together and F was 0.510 (P < 0.01). Conclusion: Inbreeding increases the risk of disability which is unevenly distributed, varying considerably even in neighboring communities with similar Human Development Index and population density. Higher inbreeding communities are mostly located on the more economically underdeveloped backlands than on the coastal region. The identification of communities at high risk for genetic disorders could serve as basis for the establishment of Community Genetics programs. Am. J. Hum. Biol., 2012. (C) 2012 Wiley Periodicals, Inc.
- Anti-aquaporin-4 antibodies in the context of assorted immune-mediated diseases(2012) DELLAVANCE, A.; ALVARENGA, R. R.; RODRIGUES, S. H.; KOK, F.; SOUZA, A. W. S. de; ANDRADE, L. E. C.Background and purposes: Anti-aquaporin 4 antibodies are specific markers for Devics disease. This study aimed to test if this high specificity holds in the context of a large spectrum of systemic autoimmune and non-autoimmune diseases. Methods: Anti-aquaporin-4 antibodies (NMO-IgG) were determined by indirect immunofluorescence (IIF) on mouse cerebellum in 673 samples, as follows: group I (clinically defined Devic's disease, n = 47); group II [ inflammatory/demyelinating central nervous system (CNS) diseases, n = 41]; group III (systemic and organ-specific autoimmune diseases, n = 250); group IV (chronic or acute viral diseases, n = 35); and group V (randomly selected samples from a general clinical laboratory, n = 300). Results: MNO-IgG was present in 40/47 patients with classic Devic's disease (85.1% sensitivity) and in 13/22 (59.1%) patients with disorders related to Devic's disease. The latter 13 positive samples had diagnosis of longitudinally extensive transverse myelitis (n = 10) and isolated idiopathic optic neuritis (n = 3). One patient with multiple sclerosis and none of the remaining 602 samples with autoimmune and miscellaneous diseases presented NMO-IgG (99.8% specificity). The autoimmune disease subset included five systemic lupus erythematosus individuals with isolated or combined optic neuritis and myelitis and four primary Sjogren's syndrome (SS) patients with cranial/peripheral neuropathy. Conclusions: The available data clearly point to the high specificity of anti-aquaporin-4 antibodies for Devic's disease and related syndromes also in the context of miscellaneous non-neurologic autoimmune and non-autoimmune disorders.
- Anti-N-methyl D-aspartate receptor encephalitis in childhood(2012) BORLOT, Felippe; SANTOS, Mara Lucia F.; BANDEIRA, Marcia; LIBERALESSO, Paulo B.; KOK, Fernando; LOEHR JR., Alfredo; REED, Umbertina C.Objective: To discuss the differential diagnosis of encephalitis beyond that of infectious etiology and to inform pediatricians about the possibility of anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis in children by highlighting its most important clinical features. Description: Three patients presented with an initial neuropsychiatric syndrome followed by encephalopathy and movement disorder. The initial neuropsychiatric features which developed over days to weeks included a change in personality, anxiety, confusion, and speech regression. This was followed by a choreoathetoid or dystonic movement disorder affecting the orofacial region and the limbs. After the exclusion of the major causes of encephalitis, NMDAr antibodies were identified in serum and cerebrospinal fluid, and neoplasm screening did not detect any tumor. Patients were submitted to immunosuppression, and two of them had a full neurological recovery. One of them still presents a mild dystonic posture in a limb. Comments: Clinical signs of anti-NMDAr encephalitis in children are similar to those previously described in adults. Tumors are not usually detected by this age. The diagnosis of anti-NMDAr encephalitis must be addressed only after the exclusion of infectious and other recognizable causes of encephalitis. Pediatricians should be aware of this treatable autoimmune condition.
- A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features(2012) MOLIN, A-M; ANDRIEUX, J.; KOOLEN, D. A.; MALAN, V.; CARELLA, M.; COLLEAUX, L.; CORMIER-DAIRE, V.; DAVID, A.; LEEUW, N. de; DELOBEL, B.; DUBAN-BEDU, B.; FISCHETTO, R.; FLINTER, F.; KJAERGAARD, S.; KOK, F.; KREPISCHI, A. C.; CAIGNEC, C. Le; OGILVIE, C. Mackie; MAIA, S.; MATHIEU-DRAMARD, M.; MUNNICH, A.; PALUMBO, O.; PAPADIA, F.; PFUNDT, R.; REARDON, W.; RECEVEUR, A.; RIO, M.; DARLING, L. Ronsbro; ROSENBERG, C.; SA, J.; VALLEE, L.; VINCENT-DELORME, C.; ZELANTE, L.; BONDESON, M-L; ANNEREN, G.Background Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype. phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. Methods Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. Results The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype. phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. Conclusion A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.
- Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome(2012) PESSOA, Andre Luiz Santos; MONTEIRO, Amanda do Vale; QUEIROZ, Rafael Fonseca de; MALVEIRA, George Linard; KOK, FernandoThe association of leukoencephalopathy with cerebral calcifications and cysts (LCC), Labrune syndrome is a rare disease, which was first described in 1996(1). LCC is derived from the syndrome called COATS plus or cerebroretinal microangiopathy with calcifications and brain cysts (CRMCC), reported in 1988. We report a case of an adult patient with LCC.