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1.
J Neuropathol Exp Neurol ; 80(9): 868-874, 2021 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-34402516

RESUMO

Small fiber neuropathy (SFN) is characterized by the involvement of Aδ and C fibers leading to sensory, mainly pain, and/or autonomic symptoms. Multiple chemical sensitivity syndrome (MCS) is an incompletely defined condition characterized by the onset of various symptoms in patients after exposure to several chemical substances. Pain is a common symptom in these patients. In this study, we report the histological and clinical data of a cohort of 21 patients who had been diagnosed as having MCS and who were referred to us with the suspicion of SFN because of chronic pain. All patients underwent neurological clinical examination, (including scales for pain and autonomic disorders), and a skin biopsy. Age-matched healthy subjects were used as controls for the skin biopsies. Nerve conduction studies and serum screening to exclude possible causes of peripheral neuropathy were also performed. Skin biopsies disclosed a somatic SFN in all patients. Although the majority (18 out of 21) of patients also had autonomic symptoms. we found sparing of autonomic innervation in the biopsies. These observations suggest that chronic pain in MCS could be secondary to the presence of somatic SFN, although more data are needed to confirm these observations.


Assuntos
Sensibilidade Química Múltipla/diagnóstico , Sensibilidade Química Múltipla/patologia , Exame Neurológico , Neuropatia de Pequenas Fibras/diagnóstico , Neuropatia de Pequenas Fibras/patologia , Adulto , Biópsia , Dor Crônica/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico/métodos , Pele/patologia , Pele/fisiopatologia
2.
J Pers Med ; 11(2)2021 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-33572540

RESUMO

Background: Trimethylaminuria (TMAU) is a rare metabolic syndrome characterized by the accumulation and the excretion of trimethylamine (TMA), a volatile diet compound produced by gut microbiota. Gut microbiota alterations are mainly involved in the secondary TMAU, whose patients show also different psychiatric conditions. We hypothesized that the biological activity of several molecules acting as intermediate in TMA metabolic reaction might be at the basis of TMAU psychiatric comorbidities. Methods: To corroborate this hypothesis, we performed the analysis of microbiota of both psychiatric suffering secondary TMAU patients and TMAU "mentally ill" controls, comparing the alteration of metabolites produced by their gut bacteria possibly involved in neurotransmission and, in the same time, belonging to biochemical pathways leading to TMA accumulation. Results: Microbiota analyses showed that Clostridiaceae, Lachnospiraceae and Coriobacteriaceae alterations represented the bacterial families with highest variations. This results in an excessive release of serotonin and an hyperactivation of the vagus nerve that might determine the widest spectrum of psychiatric disorders shown by affected patients. These metabolites, as short chain fatty acids, lactate and neurotransmitter precursors, are also related to TMA accumulation. Conclusions: Knowledge of microbiota-gut-brain axis may become a potential new strategy for improving metabolic diseases and to treat linked psychiatric disorders.

3.
J Clin Pharm Ther ; 46(2): 304-309, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33247860

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Trimethylaminuria is a metabolic disorder characterized by excessive excretion of trimethylamine in body fluids following FMO3 gene mutations. Secondary forms of the disease may be due to consumption of trimethylamine precursor-rich foods or metabolism of some xenobiotics. CASE SUMMARY: A HIV patient developed secondary trimethylaminuria following antiretroviral treatment. Riboflavin supplementation ameliorated his phenotype. 1 H-NMR confirmed increased urine level of TMA. Several genes involved in choline catabolism harboured missense mutations. Riboflavin supplement improved enzymatic activity of mutated enzymes promoting TMA clearance. WHAT IS NEW AND CONCLUSION: Antiretrovirals may increase the concentration of TMA precursors. The present study reports antiretroviral treatment as risk factor for such secondary trimethylaminuria. Riboflavin is an effective treatment.


Assuntos
Antirretrovirais/efeitos adversos , Infecções por HIV/tratamento farmacológico , Erros Inatos do Metabolismo/induzido quimicamente , Metilaminas/urina , Adulto , Antirretrovirais/uso terapêutico , Humanos , Imageamento por Ressonância Magnética , Masculino , Erros Inatos do Metabolismo/tratamento farmacológico , Riboflavina/uso terapêutico
4.
Sci Rep ; 10(1): 20418, 2020 11 24.
Artigo em Inglês | MEDLINE | ID: mdl-33235303

RESUMO

Fibromyalgia (FM) as Fibromyalgia and Electromagnetic Sensitivity (IEI-EMF) are a chronic and systemic syndrome. The main symptom is represented by strong and widespread pain in the musculoskeletal system. The exact causes that lead to the development of FM and IEI-EMF are still unknown. Interestingly, the proximity to electrical and electromagnetic devices seems to trigger and/or amplify the symptoms. We investigated the blood plasma metabolome in IEI-EMF and healthy subjects using 1H NMR spectroscopy coupled with multivariate statistical analysis. All the individuals were subjected to tests for the evaluation of psychological and physical features. No significant differences between IEI-EMF and controls relative to personality aspects, Locus of Control, and anxiety were found. Multivariate statistical analysis on the metabolites identified by NMR analysis allowed the identification of a distinct metabolic profile between IEI-EMF and healthy subjects. IEI-EMF were characterized by higher levels of glycine and pyroglutamate, and lower levels of 2-hydroxyisocaproate, choline, glutamine, and isoleucine compared to healthy subjects. These metabolites are involved in several metabolic pathways mainly related to oxidative stress defense, pain mechanisms, and muscle metabolism. The results here obtained highlight possible physiopathological mechanisms in IEI-EMF patients to be better defined.


Assuntos
Biomarcadores/sangue , Fibromialgia/psicologia , Metabolômica/métodos , Adulto , Caproatos/sangue , Estudos de Casos e Controles , Colina/sangue , Feminino , Fibromialgia/metabolismo , Glutamina/sangue , Glicina/sangue , Humanos , Isoleucina/sangue , Masculino , Redes e Vias Metabólicas , Pessoa de Meia-Idade , Análise Multivariada , Estresse Oxidativo , Espectroscopia de Prótons por Ressonância Magnética , Ácido Pirrolidonocarboxílico/sangue
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