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1.
JAMA Netw Open ; 7(5): e2410075, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38713469

RESUMO

This cohort study investigates the association between dengue fever and risk of neurological and psychiatric disorders among adults in Taiwan.


Assuntos
Dengue , Transtornos Mentais , Doenças do Sistema Nervoso , Humanos , Dengue/complicações , Transtornos Mentais/etiologia , Masculino , Feminino , Adulto , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/virologia , Pessoa de Meia-Idade
2.
J Assoc Physicians India ; 72(3): 63-65, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38736119

RESUMO

AIM: The coronavirus disease 2019 (COVID-19) is considered a pandemic by the World Health Organization (WHO). Although diffuse alveolar damage and acute respiratory failure are the main features of COVID-19, the involvement of other organs needs to be explored. Thus, this study is undertaken to analyze the neurological manifestations in patients with COVID-19 infection. To analyze the neurological manifestations in patients with COVID-19 infection. MATERIALS AND METHODS: All COVID-19-positive patients who got neurology referrals from March 2020 to June 2021 were included in the study. Laboratory confirmation of COVID-19 infection was done by real-time reverse transcriptase-polymerase chain reaction (RT-PCR) of throat swabs in patients who present with symptoms suggestive of COVID-19. Demographic characteristics, neurological complaints, comorbid conditions, neurological examination, and requisite investigations were analyzed. RESULTS: Among 160 patients, 107 (67%) were men, and the mean age was 61 years. Comorbidities included diabetes mellitus (51%) of subjects followed by hypertension (28%), chronic kidney disease (10%), and coronary artery disease (5%). Considering the COVID-19 severity, 28.75% had mild; 8.75% had moderate; and 62.5% had severe disease. The most common neurological symptoms included altered sensorium (62.5%), focal neurological symptoms (29.4%), anosmia (13.1%), headache (10.6%), and seizures (7.5%). The most prevalent neurological signs and/or syndromes were acute encephalopathy (62.5%), stroke (21.3%%), and mucormycosis (12.5%). The mortality rate in our study population was 16.3%, encephalopathy being the most common cause. CONCLUSION: In our study, encephalopathy was the major cause of morbidity and mortality among the COVID-19-related neurological manifestations. Encephalopathy was most seen in severe COVID-19 infection and was associated with increased neutrophil-to-lymphocyte (NL) ratio raised inflammatory markers. Stroke constituted 29.4% of the neurology referrals in COVID-19 patients confirming COVID-19 infection predisposes to thrombotic events. We found an increased incidence of Mucormycosis in COVID-19 patients, but early debridement and timely treatment with antifungal medications had reduced the mortality.


Assuntos
COVID-19 , Doenças do Sistema Nervoso , Centros de Atenção Terciária , Humanos , COVID-19/complicações , COVID-19/epidemiologia , COVID-19/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/epidemiologia , Idoso , Índia/epidemiologia , SARS-CoV-2 , Comorbidade , Adulto , Índice de Gravidade de Doença
6.
Pediatr Transplant ; 28(3): e14728, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38600717

RESUMO

BACKGROUND: Although neurotoxicity is a major adverse event associated with busulfan, little information is available regarding the association between drug interactions and neurological symptoms during busulfan-based regimens. This study evaluated the association between prophylactic echinocandins and neurological complications in patients receiving busulfan-containing conditioning regimens for stem cell transplantation. METHODS: We retrospectively included consecutive patients who administered intravenous busulfan as a conditioning regimen at our facility between 2007 and 2022. Prophylactic echinocandin use was defined as the use of an echinocandin antifungal drug to prevent invasive fungal disease in SCT recipients. The primary outcome was the incidence of neurological complications within 7 days of busulfan initiation and was compared between the echinocandin group (patients received prophylactic echinocandin) and nonechinocandin group (patients received prophylactic antifungal drugs other than echinocandin and those without antifungal prophylaxis). RESULTS: Among the 59 patients included in this study, the incidence of neurological complications in the echinocandin (n = 26) and nonechinocandin groups (n = 33) was 30.8% and 63.6%, respectively. We observed a negative association between prophylactic echinocandin use and the development of neurological complications after adjusting for the propensity score for receiving prophylactic echinocandins (adjusted odds ratio 0.294, 95% confidence interval 0.090 to 0.959). We observed a lower incidence of neurological complications in the echinocandin group than in the nonechinocandin group. CONCLUSION: Our results suggested that the choice of antifungal prophylaxis is associated with busulfan neurotoxicity.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Doenças do Sistema Nervoso , Humanos , Bussulfano/efeitos adversos , Estudos Retrospectivos , Antifúngicos/uso terapêutico , Equinocandinas/uso terapêutico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/métodos , Transplante de Células-Tronco , Doenças do Sistema Nervoso/etiologia , Condicionamento Pré-Transplante/efeitos adversos , Condicionamento Pré-Transplante/métodos , Doença Enxerto-Hospedeiro/etiologia
7.
Rev Med Virol ; 34(3): e2538, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38658176

RESUMO

Serious adverse events following vaccination include medical complications that require hospitalisation. The live varicella vaccine that was approved by the Food and Drug Administration in the United States in 1995 has an excellent safety record. Since the vaccine is a live virus, adverse events are more common in immunocompromised children who are vaccinated inadvertently. This review includes only serious adverse events in children considered to be immunocompetent. The serious adverse event called varicella vaccine meningitis was first reported in a hospitalised immunocompetent child in 2008. When we carried out a literature search, we found 15 cases of immunocompetent children and adolescents with varicella vaccine meningitis; the median age was 11 years. Eight of the children had received two varicella vaccinations. Most of the children also had a concomitant herpes zoster rash, although three did not. The children lived in the United States, Greece, Germany, Switzerland, and Japan. During our literature search, we found five additional cases of serious neurological events in immunocompetent children; these included 4 cases of progressive herpes zoster and one case of acute retinitis. Pulses of enteral corticosteroids as well as a lack of herpes simplex virus antibody may be risk factors for reactivation in immunocompetent children. All 20 children with adverse events were treated with acyclovir and recovered; 19 were hospitalised and one child was managed as an outpatient. Even though the number of neurological adverse events remains exceedingly low following varicella vaccination, we recommend documentation of those caused by the vaccine virus.


Assuntos
Vacina contra Varicela , Meningite Viral , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Varicela/prevenção & controle , Varicela/virologia , Vacina contra Varicela/administração & dosagem , Vacina contra Varicela/efeitos adversos , Vacina contra Varicela/imunologia , Herpesvirus Humano 3/imunologia , Meningite Viral/virologia , Doenças do Sistema Nervoso/virologia , Doenças do Sistema Nervoso/etiologia , Vacinação/efeitos adversos , Ativação Viral/efeitos dos fármacos
8.
Discov Med ; 36(183): 646-654, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38665014

RESUMO

Wilson's disease (WD) is an inherited disorder of copper metabolism in which pathological copper accumulation, mainly in the liver and the brain, leads to hepatic and/or neuropsychiatric signs and symptoms. Chelators and zinc salts can successfully induce negative copper balance in many patients; however, neurological deterioration may still be observed. This phenomenon can be divided into: (1) early 'paradoxical' neurological deterioration, which usually develops in the first 6 months of anti-copper treatment and may be commonly related to drug type, or (2) late neurological deterioration, which mostly occurs after 6 months of treatment and is often related either to non-compliance with treatment, overtreatment resulting in copper deficiency, or adverse drug reactions. Another explanation, especially for early neurological deterioration, is natural WD progression, which can be difficult to differentiate from drug-related deterioration, but usually leads to a worse outcome. There is still no consensus on how to define neurological deterioration in WD using scales or biomarkers, how to distinguish it from the natural disease progression, its risk factors, and optimal management. This narrative review, based on the current literature, aims to provide definitions, prevalence, pathological mechanisms and factors related to neurological deterioration, and also proposes schemes for diagnosis and treatment.


Assuntos
Cobre , Progressão da Doença , Degeneração Hepatolenticular , Degeneração Hepatolenticular/terapia , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/metabolismo , Humanos , Cobre/metabolismo , Quelantes/uso terapêutico , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/terapia , Gerenciamento Clínico
10.
Clin Neurol Neurosurg ; 240: 108250, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38552364

RESUMO

Hypoxia is a prevalent characteristic of numerous neurological disorders including stroke, Alzheimer's disease, and Parkinson's disease. Extracellular vesicles (EVs) are minute particles released by cells that contain diverse biological materials, including proteins, lipids, and nucleic acids. They have been implicated in a range of physiological and pathological processes including intercellular communication, immune responses, and disease progression. EVs are believed to play a pivotal role in modulating the microenvironment of hypoxia-associated neurological diseases. These EVs are capable of transporting hypoxia-inducible factors such as proteins and microRNAs to neighboring or remote cells, thereby influencing their behavior. Furthermore, EVs can traverse the blood-brain barrier, shielding the brain from detrimental substances in the bloodstream. This enables them to deliver their payload directly to the brain cells, potentially intensifying the effects of hypoxia. Nonetheless, the capacity of EVs to breach the blood-brain barrier presents new opportunities for drug delivery. The objective of this study was to elucidate the role of EVs as mediators of information exchange during tissue hypoxia, a pathophysiological process in ischemic stroke and malignant gliomas. We also investigated their involvement in the progression and regression of major diseases of the central nervous system, which are pertinent to the development of therapeutic interventions for neurological disorders.


Assuntos
Vesículas Extracelulares , Humanos , Vesículas Extracelulares/metabolismo , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/metabolismo , Hipóxia/metabolismo , Barreira Hematoencefálica/metabolismo , Animais
11.
Rev Med Virol ; 34(3): e2532, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38549138

RESUMO

Cytomegalovirus (CMV) belongs to the Herpesviridae family and is also known as human herpesvirus type 5. It is a common virus that usually doesn't cause any symptoms in healthy individuals. However, once infected, the virus remains in the host's body for life and can reactivate when the host's immune system weakens. This virus has been linked to several neurological disorders, including Alzheimer's disease, Parkinson's disease, Autism spectrum disorder, Huntington's disease (HD), ataxia, Bell's palsy (BP), and brain tumours, which can cause a wide range of symptoms and challenges for those affected. CMV may influence inflammation, contribute to brain tissue damage, and elevate the risk of moderate-to-severe dementia. Multiple studies suggest a potential association between CMV and ataxia in various conditions, including Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, acute cerebellitis, etc. On the other hand, the evidence regarding CMV involvement in BP is conflicting, and also early indications of a link between CMV and HD were challenged by subsequent research disproving CMV's presence. This systematic review aims to comprehensively investigate any link between the pathogenesis of CMV and its potential role in neurological disorders and follows the preferred reporting items for systematic review and meta-analysis checklist. Despite significant research into the potential links between CMV infection and various neurological disorders, the direct cause-effect relationship is not fully understood and several gaps in knowledge persist. Therefore, continued research is necessary to gain a better understanding of the role of CMV in neurological disorders and potential treatment avenues.


Assuntos
Transtorno do Espectro Autista , Infecções por Citomegalovirus , Doenças do Sistema Nervoso , Humanos , Transtorno do Espectro Autista/complicações , Infecções por Citomegalovirus/diagnóstico , Citomegalovirus/fisiologia , Doenças do Sistema Nervoso/etiologia , Ataxia/complicações
12.
Eur J Pediatr ; 183(5): 2353-2363, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38429545

RESUMO

There are increasing reports of neurological manifestation in children with coronavirus disease 2019 (COVID-19). However, the frequency and clinical outcomes of in hospitalized children infected with the Omicron variant are unknown. The aim of this study was to describe the clinical characteristics, neurological manifestations, and risk factor associated with poor prognosis of hospitalized children suffering from COVID-19 due to the Omicron variant. Participants included children older than 28 days and younger than 18 years. Patients were recruited from December 10, 2022 through January 5, 2023. They were followed up for 30 days. A total of 509 pediatric patients hospitalized with the Omicron variant infection were recruited into the study. Among them, 167 (32.81%) patients had neurological manifestations. The most common manifestations were febrile convulsions (n = 90, 53.89%), viral encephalitis (n = 34, 20.36%), epilepsy (n = 23, 13.77%), hypoxic-ischemic encephalopathy (n = 9, 5.39%), and acute necrotizing encephalopathy (n = 6, 3.59%). At discharge, 92.81% of patients had a good prognosis according to the Glasgow Outcome Scale (scores ≥ 4). However, 7.19% had a poor prognosis. Eight patients died during the follow-up period with a cumulative 30-day mortality rate of 4.8% (95% confidence interval (CI) 1.5-8.1). Multivariate analysis revealed that albumin (odds ratio 0.711, 95% CI 0.556-0.910) and creatine kinase MB (CK-MB) levels (odds ratio 1.033, 95% CI 1.004-1.063) were independent risk factors of poor prognosis due to neurological manifestations. The area under the curve for the prediction of poor prognosis with albumin and CK-MB was 0.915 (95%CI 0.799-1.000), indicating that these factors can accurately predict a poor prognosis.          Conclusion: In this study, 32.8% of hospitalized children suffering from COVID-19 due to the Omicron variant infection experienced neurological manifestations. Baseline albumin and CK-MB levels could accurately predict poor prognosis in this patient population. What is Known: • Neurological injury has been reported in SARS-CoV-2 infection; compared with other strains, the Omicron strain is more likely to cause neurological manifestations in adults. • Neurologic injury in adults such as cerebral hemorrhage and epilepsy has been reported in patients with Omicron variant infection. What is New: • One-third hospitalized children with Omicron infection experience neurological manifestations, including central nervous system manifestations and peripheral nervous system manifestations. • Albumin and CK-MB combined can accurately predict poor prognosis (AUC 0.915), and the 30-day mortality rate of children with Omicron variant infection and neurological manifestations was 4.8%.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/mortalidade , COVID-19/complicações , COVID-19/diagnóstico , Masculino , Feminino , Criança , Prognóstico , Fatores de Risco , Pré-Escolar , Lactente , Adolescente , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/virologia , Hospitalização/estatística & dados numéricos , Recém-Nascido , China/epidemiologia , Criança Hospitalizada/estatística & dados numéricos
14.
Handb Clin Neurol ; 200: 397-407, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38494292

RESUMO

Neuroendocrine neoplasms (NENs) are a heterogeneous group of tumors arising from the transformation of neuroendocrine cells in several organs, most notably the gastro-entero-pancreatic system and respiratory tract. The classification was recently revised in the 5th Edition of the WHO Classification of Endocrine and Neuroendocrine Tumors. NENs can rarely spread to the central or peripheral nervous systems. Neurologic involvement is determined by the rare development of paraneoplastic syndromes, which are remote effects of cancer. Mechanisms depend on immunologic response to a tumor, leading to the immune attack on the nervous system or the production of biologically active ("functioning") substances, which can determine humoral (endocrine) effects with neurologic manifestations. Paraneoplastic neurologic syndromes (PNS) are immunologically mediated and frequently detected in small cell lung cancer but rarely seen in other forms of NEN. PNS and Merkel cell carcinoma is increasingly reported, especially with Lambert Eaton myasthenic syndrome. Endocrine manifestations are found in a wide spectrum of NENs. They can develop at any stage of the diseases and determine neurologic manifestations. Patient outcomes are influenced by tumor prognosis, neurologic complications, and the severity of endocrine effects.


Assuntos
Síndrome Miastênica de Lambert-Eaton , Doenças do Sistema Nervoso , Tumores Neuroendócrinos , Síndromes Paraneoplásicas do Sistema Nervoso , Síndromes Paraneoplásicas , Humanos , Tumores Neuroendócrinos/complicações , Síndromes Paraneoplásicas/complicações , Síndrome Miastênica de Lambert-Eaton/etiologia , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/complicações , Síndromes Paraneoplásicas do Sistema Nervoso/etiologia , Autoanticorpos
15.
Handb Clin Neurol ; 200: 57-77, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38494297

RESUMO

Paraneoplastic neurologic syndromes (PNS), initially depicted as seemingly cryptic remote manifestations of malignancy, were first described clinically in the early 20th century, with pathophysiologic correlates becoming better elucidated in the latter half of the century. There remain many questions not only about the pathophysiology but also regarding the epidemiology of these conditions. The continuous discovery of novel autoantigens and related neurologic disease has broadened the association in classical PNS to include conditions such as paraneoplastic cerebellar degeneration. It has also brought into focus several other neurologic syndromes with a putative neoplastic association. These conditions are overall rare, making it difficult to capture large numbers of patients to study, and raising the question of whether incidence is increasing over time or improved identification is driving the increased numbers of cases. With the rise and increasing use of immunotherapy for cancer treatment, the incidence of these conditions is additionally expected to rise and may present with various clinical symptoms. As we enter an era of clinical trial intervention in these conditions, much work is needed to capture more granular data on population groups defined by socioeconomic characteristics such as age, ethnicity, economic resources, and gender to optimize care and clinical trial planning.


Assuntos
Neoplasias , Doenças do Sistema Nervoso , Síndromes Paraneoplásicas do Sistema Nervoso , Humanos , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Síndromes Paraneoplásicas do Sistema Nervoso/epidemiologia , Neoplasias/epidemiologia , Neoplasias/complicações , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/complicações , Imunoterapia
16.
J Cardiothorac Vasc Anesth ; 38(5): 1161-1168, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38467525

RESUMO

OBJECTIVES: To estimate the association between early surgery and the risk of mortality in patients with left-sided infective endocarditis in the context of stroke. DESIGN: Retrospective cohort study. SETTING: This study was a multiinstitution study based on the Chang Gung Research Database, which contains electronic medical records from 7 hospitals in northern and southern Taiwan; these include 2 medical centers, 2 regional hospitals, and 3 district hospitals. PARTICIPANTS: Patients with active left-sided infective endocarditis who underwent valve surgery between September 2002 and December 2018. INTERVENTIONS: The authors divided patients into 2 groups, with versus without preoperative neurologic complications, had undergone early (within 7 d) or later surgery, and with brain ischemia or hemorrhage. MEASUREMENTS AND MAIN RESULTS: Three hundred ninety-two patients with a median time from diagnosis to surgery of 6 days were included. No significant differences in postoperative stroke, in-hospital mortality, or follow-up outcomes were observed between the patients with and without neurologic complications. Among the patients with preoperative neurologic complications, patients who underwent early surgery had a lower 30-day postoperative mortality rate (13.1% v 25.8%; hazard ratio, 0.21; 95% CI 0.07-0.67). In the subgroup analysis of the comparison between brain ischemia and hemorrhage groups, there was no significant between-group difference in the in-hospital outcomes or outcomes after discharge. CONCLUSIONS: Early cardiac surgery may be associated with more favorable clinical outcomes in patients with preoperative neurologic complications. Thus, preoperative neurologic complications should not delay surgical interventions.


Assuntos
Isquemia Encefálica , Endocardite Bacteriana , Endocardite , Doenças do Sistema Nervoso , Acidente Vascular Cerebral , Humanos , Estudos Retrospectivos , Endocardite Bacteriana/complicações , Endocardite Bacteriana/cirurgia , Endocardite/complicações , Endocardite/cirurgia , Acidente Vascular Cerebral/cirurgia , Acidente Vascular Cerebral/complicações , Isquemia Encefálica/complicações , Isquemia Encefálica/cirurgia , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/etiologia , Hemorragia , Resultado do Tratamento
17.
Radiother Oncol ; 194: 110200, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38438018

RESUMO

Radiotherapy is one of the mainstay treatment modalities for the management of non-metastatic head and neck cancer (HNC). Notable improvements in treatment outcomes have been observed in the recent decades. Modern radiotherapy techniques, such as intensity-modulated radiotherapy and charged particle therapy, have significantly improved tumor target conformity and enabled better preservation of normal structures. However, because of the intricate anatomy of the head and neck region, multiple critical neurological structures such as the brain, brainstem, spinal cord, cranial nerves, nerve plexuses, autonomic pathways, brain vasculature, and neurosensory organs, are variably irradiated during treatment, particularly when tumor targets are in close proximity. Consequently, a diverse spectrum of late neurological sequelae may manifest in HNC survivors. These neurological complications commonly result in irreversible symptoms, impair patients' quality of life, and contribute to a substantial proportion of non-cancer deaths. Although the relationship between radiation dose and toxicity has not been fully elucidated for all complications, appropriate application of dosimetric constraints during radiotherapy planning may reduce their incidence. Vigilant surveillance during the course of survivorship also enables early detection and intervention. This article endeavors to provide a comprehensive review of the various neurological complications of modern radiotherapy for HNC, summarize the current incidence data, discuss methods to minimize their risks during radiotherapy planning, and highlight potential strategies for managing these debilitating toxicities.


Assuntos
Neoplasias de Cabeça e Pescoço , Lesões por Radiação , Humanos , Neoplasias de Cabeça e Pescoço/radioterapia , Lesões por Radiação/etiologia , Radioterapia de Intensidade Modulada/efeitos adversos , Radioterapia de Intensidade Modulada/métodos , Dosagem Radioterapêutica , Doenças do Sistema Nervoso/etiologia , Qualidade de Vida
19.
Artigo em Chinês | MEDLINE | ID: mdl-38311946

RESUMO

Objective: To analyze and summarize the trends and hot spots in the field of neurological damage caused by electric welding operations, and to provide ideas for new researches by searching the domestic and international literature. Methods: In December 2022, using Web of Science Citation Index (Web of Science), China Journal Full-Text Database (CNKI) and Wanfang Database as search databases, literature search was conducted on the Chinese and English search terms related to eletrical welding operations and neurological damage. The bibliometric analysis software VOSviewer 1.6.18 and CiteSpace 6.1.6 were used to visualize the publication year, publication quantity, country, research institution and key words of the literature. Results: A total of 309 articles (112 in Chinese and 197 in English) were included in this study. The first domestic and international papers were published in 1976 and 1994 respectively, and the number of papers reached the peak in 2006 and 2018, and then showed a downward trend to varying degrees. In China, Shandong First Medical University (including Shandong Institute of Occupational Health and Occupational Disease Prevention and Shandong Academy of Medical Sciences) and Wuhan University of Science and Technology had the largest number of publications. The 309 articles were from 52 Chinese journals and 86 English journals. The co-occurrence analysis of key words showed that the domestic research mainly focused on eletrical welding operation, welding workers, neurobehavioral function and manganese, and the nervous system damage caused by manganese in welding smoke was the field of international attention. Long term exposure, risk, and performance were key buzzwords in the field. Conclusion: The research focus in the field of nervous system damage caused by electric welding operation has an obvious trend of time evolution, gradually transiting from clinical manifestations to its toxic mechanism and early biomarkers.


Assuntos
Manganês , Doenças do Sistema Nervoso , Doenças Profissionais , Fumaça , Soldagem , Humanos , Povo Asiático , Bibliometria , China , Manganês/análise , Manganês/toxicidade , Soldagem/métodos , Doenças do Sistema Nervoso/etiologia , Fumaça/efeitos adversos , Doenças Profissionais/etiologia , Exposição Ocupacional/efeitos adversos , Exposição Ocupacional/análise
20.
Eur J Paediatr Neurol ; 49: 60-65, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38377647

RESUMO

Fatty acid oxidation (FAO) disorders are autosomal recessive genetic disorders affecting either the transport or the oxidation of fatty acids. Acute symptoms arise during prolonged fasting, intercurrent infections, or intense physical activity. Metabolic crises are characterized by alteration of consciousness, hypoglycemic coma, hepatomegaly, cardiomegaly, arrhythmias, rhabdomyolysis, and can lead to death. In this retrospective and multicentric study, the data of 54 patients with FAO disorders were collected. Overall, 35 patients (64.8%) were diagnosed after newborn screening (NBS), 17 patients on clinical presentation (31.5%), and two patients after family screening (3.7%). Deficiencies identified included medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (75.9%), very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (11.1%), long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (3.7%), mitochondrial trifunctional protein (MTP) deficiency (1.8%), and carnitine palmitoyltransferase 2 (CPT 2) deficiency (7.4%). The NBS results of 25 patients were reviewed and the neurological outcome of this population was compared with that of the patients who were diagnosed on clinical presentation. This article sought to provide a comprehensive overview of how NBS implementation in Southern Belgium has dramatically improved the neurological outcome of patients with FAO disorders by preventing metabolic crises and death. Further investigations are needed to better understand the physiopathology of long-term complications in order to improve the quality of life of patients and to ensure optimal management.


Assuntos
Acil-CoA Desidrogenase/deficiência , Cardiomiopatias , Carnitina O-Palmitoiltransferase/deficiência , Erros Inatos do Metabolismo Lipídico , Erros Inatos do Metabolismo , Proteína Mitocondrial Trifuncional/deficiência , Triagem Neonatal , Rabdomiólise , Humanos , Recém-Nascido , Estudos Retrospectivos , Masculino , Feminino , Triagem Neonatal/métodos , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/complicações , Bélgica/epidemiologia , Lactente , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Ácidos Graxos/metabolismo , Pré-Escolar , Doenças Musculares/diagnóstico , Criança , Miopatias Mitocondriais/diagnóstico , Miopatias Mitocondriais/complicações , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/complicações , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/diagnóstico
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