FREDERICO MENNUCCI DE HAIDAR JORGE
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
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- A SEVERE PHENOTYPE OF KENNEDY DISEASE ASSOCIATED WITH A VERY LARGE CAG REPEAT EXPANSION(2018) MADEIRA, Joao L. O.; SOUZA, Alexandre B. C.; CUNHA, Flavia S.; BATISTA, Rafael L.; GOMES, Nathalia L.; RODRIGUES, Andresa S.; JORGE, Frederico Mennucci de Haidar; CHADI, Gerson; CALLEGARO, Dagoberto; MENDONCA, Berenice B.; COSTA, Elaine M. F.; DOMENICE, Sorahia
- C9ORF72 repeated expansion in patients with familial amyotrophic lateral sclerosis from a Brazilian research center. A preliminary report(2015) CHADI, G.; MAXIMINO, J. R.; JORGE, F. M. H.; CALLEGARO, D.
- Beyond weakness: Characterization of pain, sensory profile and conditioned pain modulation in patients with motor neuron disease: A controlled study(2018) LOPES, L. C. G.; GALHARDONI, R.; SILVA, V.; JORGE, F. M. H.; YENG, L. T.; CALLEGARO, D.; CHADI, G.; TEIXEIRA, M. J.; ANDRADE, D. Ciampi deBackgroundMotor neuron diseases (MND) represent a group of disorders that evolve with inexorable muscle weakness and medical management is based on symptom control. However, deeper characterization of non-motor symptoms in these patients have been rarely reported. MethodsThis cross-sectional study aimed to describe non-motor symptoms in MND and their impact on quality of life and functional status, with a focus on pain and sensory changes. Eighty patients (31 females, 55.712.9years old) with MND underwent a neurological examination, pain, mood, catastrophizing and psychophysics assessments [quantitative sensory testing (QST) and conditioned pain modulation (CPM)], and were compared to sex- and age-matched healthy controls (HC). ResultsChronic pain was present in 46% of patients (VAS=5.182.0). Pain of musculoskeletal origin occurred in 40.5% and was mainly located in the head/neck (51%) and lower back (35%). Neuropathic pain was not present in this sample. Compared to HC, MND patients had a lower cold detection threshold (p<0.002), and significantly lower CPM scores (4.9 +/- 0.2% vs. 22.1 +/- 0.2%, p=0.012). QST/CPM results did not differ between MND patients with and without pain. Pain intensity was statistically correlated with anxiety, depression and catastrophism, and spasticity scores were inversely correlated with CPM (=-0.30, p=0.026). ConclusionsPain is frequently reported by patients with MNDs. Somatosensory and CPM changes exist in MNDs and may be related to the neurodegenerative nature of the disease. Further studies should investigate the most appropriate treatment strategies for these patients. SignificanceWe report a comprehensive evaluation of pain and sensory abnormalities in motor neuron disease (MND) patients. We assessed the different pain syndromes present in MND with validated tools, and described the QST and conditioned pain modulation profiles in a controlled design.
- Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center(2017) CHADI, Gerson; MAXIMINO, Jessica Ruivo; JORGE, Frederico Mennucci De Haidar; BORBA, Fabricio Castro De; GILIO, Joyce Meire; CALLEGARO, Dagoberto; LOPES, Camila Galvao; SANTOS, Samantha Nakamura Dos; REBELO, Gabriela Natania SalesObjective: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. Methods: Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n=39) and SALS (n=189) subjects from the Research Centre of the University of SAo Paulo School of Medicine. All patients were subjected to C9orf72 and TARDBP analyses. SOD1, FUS and VAPB were also evaluated in FALS subjects. Results: Mutations were identified in FALS (61.3%) and SALS (5.3%) patients. Mutations in C9orf72 (12.8%,>45 GGGGCC hexanucleotide repeats), VAPB (43.6%, P56S) and SOD1 (7.7%, L145S) were identified in FALS subjects. Pathogenic C9orf72 expansions (2.64%) were identified in some SALS patients. Similar changes of TARDBP were found in SALS (2.64%) but not in FALS subjects. No FUS mutations were seen in any FALS subjects. Conclusions: TARDBP and C9orf72 mutations in this cohort were similar to those found in other centres worldwide. VAPB mutation (P56S) was highly prevalent in Brazilian FALS patients.
- A mismatch between dyspnea and general-respiratory functional tests in patients with Amyotrophic Lateral Sclerosis(2018) IAMONTI, Vinicius; PEREIRA, Mayra; FERREIRA, Jeferson; CHADI, Gerson; JORGE, Frederico; CARUSO, Pedro; CARDENAS, Leticia; PONTES, Natalia; BADARO, Flavia; CARVALHO, Carlos; ALBUQUERQUE, Andre Luis
bookPart Esclerose lateral amiotrófica e doenças do neurônio motor(2021) JORGE, Frederico Mennucci de Haidar; CHADI, Gerson