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1.
Int J Mol Sci ; 25(14)2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39063061

RESUMO

(1) Heart transplantation (HTX) improves the overall survival and functional status of end-stage heart failure patients with cardiomyopathies (CMPs). The majority of CMPs have genetic causes, and the overlap between CMPs and inherited myopathies is well documented. However, the long-term outcome in skeletal muscle function and possibility of an undiagnosed underlying genetic cause of both a cardiac and skeletal pathology remain unknown. (2) Thirty-nine patients were assessed using open and standardized interviews on muscle function, a quality-of-life (EuroQol EQ-5D-3L) questionnaire, and a physical examination (Medical Research Council Muscle scale). Whole-exome sequencing was completed in three stages for those with skeletal muscle weakness. (3) Seven patients (17.9%) reported new-onset muscle weakness and motor limitations. Objective muscle weakness in the upper and lower extremities was seen in four patients. In three of them, exome sequencing revealed pathogenic/likely pathogenic variants in the genes encoding nexilin, myosin heavy chain, titin, and SPG7. (4) Our findings support a positive long-term outcome of skeletal muscle function in HTX patients. However, 10% of patients showed clinical signs of myopathy due to a possible genetic cause. The integration of genetic testing and standardized neurological assessment of motor function during the peri-HTX period should be considered.


Assuntos
Transplante de Coração , Doenças Neuromusculares , Humanos , Transplante de Coração/efeitos adversos , Masculino , Feminino , Pessoa de Meia-Idade , Doenças Neuromusculares/genética , Adulto , Qualidade de Vida , Sequenciamento do Exoma , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Idoso , Insuficiência Cardíaca/genética , Insuficiência Cardíaca/cirurgia , Insuficiência Cardíaca/etiologia , Cardiomiopatias/genética , Cardiomiopatias/etiologia , Debilidade Muscular/etiologia , Debilidade Muscular/genética , Conectina/genética
2.
Breast Cancer Res Treat ; 189(3): 787-796, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34259949

RESUMO

PURPOSE: This longitudinal study aimed to disentangle the impact of chemotherapy on fatigue and hypothetically associated functional brain network alterations. METHODS: In total, 34 breast cancer patients treated with chemotherapy (BCC +), 32 patients not treated with chemotherapy (BCC -), and 35 non-cancer controls (NC) were included. Fatigue was assessed using the EORTC QLQ-C30 fatigue subscale at two time points: baseline (T1) and six months after completion of chemotherapy or matched intervals (T2). Participants also underwent resting-state functional magnetic resonance imaging (rsfMRI). An atlas spanning 90 cortical and subcortical brain regions was used to extract time series, after which Pearson correlation coefficients were calculated to construct a brain network per participant per timepoint. Network measures of local segregation and global integration were compared between groups and timepoints and correlated with fatigue. RESULTS: As expected, fatigue increased over time in the BCC + group (p = 0.025) leading to higher fatigue compared to NC at T2 (p = 0.023). Meanwhile, fatigue decreased from T1 to T2 in the BCC - group (p = 0.013). The BCC + group had significantly lower local efficiency than NC at T2 (p = 0.033), while a negative correlation was seen between fatigue and local efficiency across timepoints and all participants (T1 rho = - 0.274, p = 0.006; T2 rho = - 0.207, p = 0.039). CONCLUSION: Although greater fatigue and lower local functional network segregation co-occur in breast cancer patients after chemotherapy, the relationship between the two generalized across participant subgroups, suggesting that local efficiency is a general neural correlate of fatigue.


Assuntos
Neoplasias da Mama , Encéfalo/diagnóstico por imagem , Neoplasias da Mama/tratamento farmacológico , Fadiga/induzido quimicamente , Fadiga/epidemiologia , Feminino , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética
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