ANDRE MACEDO SERAFIM DA SILVA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
- Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis(2019) SILVA, Andre M. S.; ALMEIDA, Hemerli C.; VIANNA, Maria A. A.; COMELLO, Florencia; ZANOTELI, Edmar
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- Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy(2019) SILVA, Andre Macedo Serafim da; CAVALCANTE, Wagner Cid Palmeira; CAMELO, Clara Gontijo; MENDONCA, Rodrigo de Holanda; FORTINI, Ida; CARVALHO, Mary Souza de; ZANOTELI, Edmar
- Severe brain involvement in 5q spinal muscular atrophy type 0(2019) MENDONCA, Rodrigo H.; ROCHA, Antonio J.; LOZANO-ARANGO, Andres; DIAZ, Astry B.; CASTIGLIONI, Claudia; SILVA, Andre M. S.; REED, Umbertina C.; KULIKOWSKI, Leslie; PARAMONOV, Ida; CUSCO, Ivon; TIZZANO, Eduardo F.; ZANOTELI, EdmarSpinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019
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- Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy(2019) WINCKLER, Pablo B.; SILVA, Andre M. S. da; COIMBRA-NETO, Antonio R.; CARVALHO, Elmano; CAVALCANTI, Eduardo B. U.; SOBREIRA, Claudia F. R.; MARRONE, Carlo D.; MACHADO-COSTA, Marcela C.; CARVALHO, Alzira A. S.; FEIO, Raimunda H. F.; RODRIGUES, Cleonisio L.; GONCALVES, Marcus V. M.; TENORIO, Renata B.; MENDONCA, Rodrigo H.; COTTA, Ana; PAINN, Julia F. O.; SILVA, Cynthia Costa e; CRUZ, Camila de Aquino; I, Marjory Bena; BETANCUR, Daniel F. A.; HUSNY, Antonette S. El; SOUZA, Isabel C. N. de; DUARTE, Regina C. B.; REED, Umbertina C.; CHAVES, Marcia L. F.; ZANOTELI, Edmar; JR, Marcondes C. Franca; SAUTE, Jonas A.Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous disorders characterized by predominantly proximal muscle weakness. We aimed to characterize epidemiological, clinical and molecular data of patients with autosomal recessive LGMD2/LGMD-R in Brazil. A multicenter historical cohort study was performed at 13 centers, in which index cases and their affected relatives' data from consecutive families with genetic or pathological diagnosis of LGMD2/LGMD-R were reviewed from July 2017 to August 2018. Survival curves to major handicap for LGMD2A/LGMD-R1-calpain3-related, LGMD2B/LGMD-R2-dysferlin-related and sarcoglycanopathies were built and progressions according to sex and genotype were estimated. In 370 patients (305 families) with LGMD2/LGMD-R, most frequent subtypes were LGMD2A/LGMD-R1-calpain3-related and LGMD2B/LGMD-R2-dysferlin-related, each representing around 30% of families. Sarcoglycanopathies were the most frequent childhood-onset subtype, representing 21% of families. Five percent of families had LGMD2G/LGMD-R7-telethonin-related, an ultra-rare subtype worldwide. Females with LGMD2B/LGMD-R2-dysferlin-related had less severe progression to handicap than males and LGMD2A/LGMD-R1-calpain3-related patients with truncating variants had earlier disease onset and more severe progression to handicap than patients without truncating variants. We have provided paramount epidemiological data of LGMD2/LGMD-R in Brazil that might help on differential diagnosis, better patient care and guiding future collaborative clinical trials and natural history studies in the field.
- Reply to ""Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0""(2019) MENDONCA, Rodrigo H.; ROCHA, Antonio J.; LOZANO-ARANGO, Andres; DIAZ, Astry B.; CASTIGLIONI, Claudia; SILVA, Andre M. S.; REED, Umbertina C.; KULIKOWSKI, Leslie; PARAMONOV, Ida; CUSCO, Ivon; TIZZANO, Eduardo F.; ZANOTELI, Edmar