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Glycogen storage diseases (GSDs) are a group of metabolic disorders affecting glycogen metabolism, with polyglucosan body myopathy type 1 (PGBM1) being a rare variant linked to RBCK1 gene mutations. Understanding the clinical diversity of PGBM1 aids in better characterization of the disease. Two unrelated Iranian families with individuals exhibiting progressive muscle weakness underwent clinical evaluations, genetic analysis using whole exome sequencing (WES), and histopathological examinations of muscle biopsies. In one case, a novel homozygous RBCK1 variant was identified, presenting with isolated myopathy without cardiac or immune involvement. Conversely, the second case harbored a known homozygous RBCK1 variant, displaying a broader phenotype encompassing myopathy, cardiomyopathy, inflammation, and immunodeficiency. Histopathological analyses confirmed characteristic skeletal muscle abnormalities consistent with PGBM1. Our study contributes to the expanding understanding of RBCK1-related diseases, illustrating the spectrum of phenotypic variability associated with distinct RBCK1 variants. These findings underscore the importance of genotype-phenotype correlations in elucidating disease mechanisms and guiding clinical management. Furthermore, the utility of next-generation sequencing techniques in diagnosing complex neurogenetic disorders is emphasized, facilitating precise diagnosis and enabling tailored genetic counseling for affected individuals and their families.
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BACKGROUND: During corona virus pandemic, various neurological complications of COVID-19 have been reported. Recent studies demonstrated different pathophysiology for neurological manifestations of COVID-19 such as mitochondrial dysfunction and damage to cerebral vasculature. In addition, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder with a variety of neurological symptoms. In this study, we aim to assess a potential predisposition in mitochondrial dysfunction of COVID-19, leading to MELAS presentation. METHODS: We studied three previously healthy patients with the first presentation of acute stroke-like symptoms, following COVID-19 infection. We analyzed the patients' clinical data and brain magnetic resonance imaging (MRI) lesions that presented to the neurological center of a university-affiliated hospital in Tehran, Iran, from September 2020 to August 2021. RESULTS: All cases are characterized by a temporoparietal abnormality in imaging studies and electroencephalogram (EEG). Based on electrodiagnostic tests, three patients were diagnosed with myopathy. In two brothers with relatively the same symptoms, one performed muscle biopsy finding myopathic process, and genetic testing confirmed a 3243A>G point mutation in a heteroplasmic state in one of our patients. CONCLUSION: Although MELAS is not a prevalent condition, the recent increase in the number of these patients in our center might indicate the potential role of COVID-19 in triggering the silent pre- existing mitochondrial dysfunction in these patients.
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Acidose Láctica , COVID-19 , Síndrome MELAS , Doenças do Sistema Nervoso , Acidente Vascular Cerebral , Masculino , Humanos , Síndrome MELAS/complicações , Síndrome MELAS/genética , Síndrome MELAS/diagnóstico , COVID-19/complicações , COVID-19/patologia , Irã (Geográfico) , Acidose Láctica/complicações , Acidose Láctica/patologia , Acidente Vascular Cerebral/etiologia , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/patologia , Mitocôndrias/patologiaRESUMO
BACKGROUND: Meningitis is known as a meningeal inflammation accompanied by pleocytosis in the cerebrospinal fluid (CSF), and can be classified into acute, subacute, and chronic meningitis based on symptoms duration of ≤ 5 days, ≥ 5 days and ≥ 4 weeks, respectively. Subacute and chronic meningitis are caused mainly by indolent infectious agents and noninfectious causes such as autoimmune, and neoplastic. In this study, we investigated the characteristics, diagnosis, and treatment of subacute and chronic meningitis. METHODS: We extracted the medical records of patients with chronic and subacute meningitis who were referred to three tertiary centers from Jun 2011 to Jun 2021. Initially, 2050 cases of meningitis were screened, and then 79 patients were included in the study. RESULTS: Headache (87.3%), nausea and vomiting (74.7%), fever (56.4%), and visual impairments (55.7%) were the most prevalent symptoms. The most common signs were nuchal rigidity (45.3%), altered mental status (26.9%), and papillary edema (37.5%). Brain computed tomography (CT) was normal in 68.6% of the patients while 22.9% of the cases had hydrocephalus. Brain magnetic resonance imaging (MRI) was normal in 60.0% of the patients. The most common abnormal MRI findings were leptomeningeal enhancement (16.0%) and hydrocephalus (16.0%). We had a 44.3% definite diagnosis with bacterial (n:25, 31.6%) and neoplastic (n:8, 10.1%) being the most prevalent etiologies. Mycobacterium tuberculosis (60%) and Brucella spp. (12%) were the most prevalent bacterial pathogens. CONCLUSIONS: The most common etiologies include infectious, neoplastic, and immunologic. Due to insidious presentation and uncommon etiologies, establishing a proper diagnosis, and providing timely targeted treatment for patients with subacute and chronic meningitis remains a challenge for clinicians.
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Hidrocefalia , Meningite , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Meningite/diagnóstico por imagem , Meningite/epidemiologia , Meningite/terapia , NeuroimagemRESUMO
During the COVID-19 pandemic, methanol-containing beverages' consumption has risen because people mistakenly believed that alcohol might protect them against the virus. This study aimed to evaluate the prevalence and predisposing factors of brain lesions in patients with methanol toxicity and its outcome. A total of 516 patients with confirmed methanol poisoning were enrolled in this retrospective study, of which 40 patients underwent spiral brain computed tomography (CT) scan. The presence of unilateral or bilateral brain necrosis was significantly higher in the non-survival group (p = 0.001). Also, intracerebral hemorrhage (ICH) and brain edema were prevalent among patients that subsequently died (p = 0.004 and p = 0.002, respectively). Lower Glasgow Coma Scale (GCS) was related to a higher mortality rate (p = 0.001). The mortality rate in chronic alcohol consumption was lower than the patients who drank alcohol for the first time (p = 0.014). In conclusion, increasing the number of methanol poisoning and its associated mortality and morbidity should be considered a threat during the COVID-19 pandemic.
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COVID-19 , Metanol , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , COVID-19/epidemiologia , Causalidade , Humanos , Metanol/toxicidade , Pandemias , Prevalência , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
[Figure: see text].
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COVID-19/complicações , Hemorragias Intracranianas/complicações , AVC Isquêmico/complicações , Trombose dos Seios Intracranianos/complicações , Trombose Venosa/complicações , Adulto , Idoso , COVID-19/epidemiologia , Feminino , Geografia , Gastos em Saúde , Humanos , Cooperação Internacional , Hemorragias Intracranianas/epidemiologia , AVC Isquêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Risco , Trombose dos Seios Intracranianos/epidemiologia , Resultado do Tratamento , Trombose Venosa/epidemiologia , Adulto JovemRESUMO
As the SARS-COV-2 becomes a global pandemic, many researchers have a concern about the long COVID-19 complications. Chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) is a persistent, debilitating, and unexplained fatigue disorder. We investigated psychological morbidities such as CFS and post-traumatic stress disorder (PTSD) among survivors of COVID-19 over 6 months. All COVID-19 survivors from the university-affiliated hospital of Tehran, Iran, were assessed 6 months after infection onset by a previously validated questionnaire based on the Fukuda guidelines for CFS/EM and DSM-5 Checklist for PTSD (The Post-traumatic Stress Disorder Checklist for DSM-5 or PCL-5) to determine the presence of stress disorder and chronic fatigue problems. A total of 120 patients were enrolled. The prevalence rate of fatigue symptoms was 17.5%. Twelve (10%) screened positive for chronic idiopathic fatigue (CIF), 6 (5%) for CFS-like with insufficient fatigue syndrome (CFSWIFS), and 3 (2.5%) for CFS. The mean total scores in PCL-5 were 9.27 ± 10.76 (range:0-44), and the prevalence rate of PTSD was 5.8%. There was no significant association after adjusting between CFS and PTSD, gender, comorbidities, and chloroquine phosphate administration. The obtained data revealed the prevalence of CFS among patients with COVID-19, which is almost similar to CFS prevalence in the general population. Moreover, PTSD in patients with COVID-19 is not associated with the increased risk of CFS. Our study suggested that medical institutions should pay attention to the psychological consequences of the COVID-19 outbreak.
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COVID-19/psicologia , Tosse/psicologia , Demência/psicologia , Dispneia/psicologia , Síndrome de Fadiga Crônica/psicologia , Febre/psicologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Adulto , Idoso , Antivirais/uso terapêutico , COVID-19/complicações , COVID-19/virologia , Tosse/complicações , Tosse/tratamento farmacológico , Tosse/virologia , Demência/complicações , Demência/tratamento farmacológico , Demência/virologia , Combinação de Medicamentos , Dispneia/complicações , Dispneia/tratamento farmacológico , Dispneia/virologia , Síndrome de Fadiga Crônica/complicações , Síndrome de Fadiga Crônica/tratamento farmacológico , Síndrome de Fadiga Crônica/virologia , Feminino , Febre/complicações , Febre/tratamento farmacológico , Febre/virologia , Humanos , Hidroxicloroquina/uso terapêutico , Lopinavir/uso terapêutico , Masculino , Pessoa de Meia-Idade , Oseltamivir/uso terapêutico , Projetos de Pesquisa , Ritonavir/uso terapêutico , SARS-CoV-2/efeitos dos fármacos , SARS-CoV-2/patogenicidade , Índice de Gravidade de Doença , Transtornos de Estresse Pós-Traumáticos/complicações , Transtornos de Estresse Pós-Traumáticos/tratamento farmacológico , Transtornos de Estresse Pós-Traumáticos/virologia , Inquéritos e Questionários , Sobreviventes/psicologia , Tratamento Farmacológico da COVID-19RESUMO
BACKGROUNDS: The reports of neurological symptoms are increasing in cases with coronavirus disease 2019 (COVID-19). This multi-center prospective study was conducted to determine the incidence of neurological manifestations in hospitalized cases with COVID-19 and assess these symptoms as the predictors of severity and death. METHODS: Hospitalized males and females with COVID-19 who aged over 18 years were included in the study. They were examined by two neurologists at the time of admission. All survived cases were followed for 8 weeks after discharge and 16 weeks if their symptoms had no improvements. RESULTS: We included 873 participants. Of eligible cases, 122 individuals (13.97%) died during hospitalization. The most common non-neurological manifestations were fever (81.1%), cough (76.1%), fatigue (36.1%), and shortness of breath (27.6%). Aging, male gender, co-morbidity, smoking, hemoptysis, chest tightness, and shortness of breath were associated with increased odds of severe cases and/or mortality. There were 561 (64.3%) cases with smell and taste dysfunctions (hyposmia: 58.6%; anosmia: 41.4%; dysguesia: 100%). They were more common among females (69.7%) and non-smokers (66.7%). Hyposmia/anosmia and dysgeusia were found to be associated with reduced odds of severe cases and mortality. Myalgia (24.8%), headaches (12.6%), and dizziness (11.9%) were other common neurological symptoms. Headaches had negative correlation with severity and death due to COVID-19 but myalgia and dizziness were not associated. The cerebrovascular events (n = 10) and status epilepticus (n = 1) were other neurological findings. The partial or full recovery of smell and taste dysfunctions was found in 95.2% after 8 weeks and 97.3% after 16 weeks. The parosmia (30.9%) and phantosmia (9.0%) were also reported during 8 weeks of follow-up. Five cases with mild headaches and 5 cases with myalgia were reported after 16 weeks of discharge. The demyelinating myelitis (n = 1) and Guillain-Barré syndrome (n = 1) were also found during follow-up. CONCLUSION: Neurological symptoms were found to be prevalent among individuals with COVID-19 disease and should not be under-estimated during the current pandemic outbreak.
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COVID-19/complicações , COVID-19/mortalidade , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/virologia , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , SARS-CoV-2RESUMO
BACKGROUND: Few migraine preventive agents have been assessed in a pediatric population. We evaluated the safety and efficacy of cinnarizine and sodium valproate for migraine prophylaxis in children and adolescents. METHODS: We carried out a randomized double-blind placebo-controlled trial in the Children's Medical Center and Sina hospital, Tehran, Iran. Eligible participants were randomly assigned in 1:1:1 ratio via interactive web response system to receive either cinnarizine, sodium valproate, or placebo. The primary endpoints were the mean change in frequency and intensity of migraine attacks from baseline to the last 4 weeks of trial. The secondary endpoint was the efficacy of each drug in the prevention of migraine. The drug was considered effective if it decreased migraine frequency by more than 50% in the double-blind phase compared with the baseline. Safety endpoint was adverse effects that were reported by children or their parents. RESULTS: A total of 158 children participated. The frequency of migraine attacks significantly reduced compared to baseline in cinnarizine (difference: -8.0; 95% confidence interval (CI): -9.3 to -6.6), sodium valproate (difference: -8.3; 95% confidence interval: -9.3 to -7.2), and placebo (difference: -4.4; 95% confidence interval: -5.4 to -3.4) arms. The decrease was statistically greater in cinnarizine (difference: -3.6; 95% confidence interval: -5.5 to -1.6) and sodium valproate (difference: -3.9; 95% confidence interval: -5.8 to -1.9) arms, compared to placebo group. Children in all groups had significant reduction in intensity of episodes compared to baseline (cinnarizine: -4.6; 95% confidence interval: -5.2 to -4.0; sodium valproate: -4.0; 95% confidence interval: -4.8 to -3.3; placebo: -2.6; 95% confidence interval: -3.4 to -1.8). The decrease was statistically greater in cinnarizine (difference: -2.0; 95% confidence interval: -3.2 to -0.8) and sodium valproate (difference: -1.5; 95% confidence interval: -2.7 to -0.3) arms, compared to the placebo group. Seventy-one percent of individuals in the cinnarizine group, 66% of cases in the sodium valproate group, and 42% of people in the placebo arm reported more than 50% reduction in episodes at the end of the trial. The odds ratio for >50% responder rate was 3.5 (98.3% confidence interval: 1.3 to 9.3) for cinnarizine versus placebo and 2.7 (98.3% confidence interval: 1.0 to 6.9) for sodium valproate versus placebo. Nine individuals reported adverse effects (three in cinnarizine, five in sodium valproate, and one in the placebo group) and one case in the sodium valproate group discontinued the therapy due to severe sedation. CONCLUSION: Cinnarizine and sodium valproate could be useful in migraine prophylaxis in children and adolescents. Trial registration: IRCT201206306907N4.
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Bloqueadores dos Canais de Cálcio/uso terapêutico , Cinarizina/uso terapêutico , GABAérgicos/uso terapêutico , Transtornos de Enxaqueca/prevenção & controle , Ácido Valproico/uso terapêutico , Adolescente , Criança , Método Duplo-Cego , Feminino , Humanos , Irã (Geográfico) , MasculinoRESUMO
This study aimed to evaluate the attention and inhibitory control functions in patients with genetic generalized epilepsy (GGE) and psychogenic nonepileptic seizure (PNES) and compare the results with the healthy control subjects. A total of 30 patients with GGE, 30 patients with PNES, and 32 healthy control subjects were included in the study. The severity of attention and inhibitory control deficit, general intelligence status, and psychopathology screening in all subjects were respectively investigated with the Integrated Visual and Auditory Continuous Performance Test (IVA-CPT), the Wechsler Adult Intelligence Scale (WAIS), and the Symptoms Checklist 90-revised (SCL-90-R). Patients with PNES had severe impairments in all performed tasks compared with the control group and the group with GGE (pâ¯<â¯0.01), whereas patients with GGE had significantly lower attention quotient versus healthy subjects (pâ¯<â¯0.01). The full-scale attention quotient (FSAQ) and full-scale response control quotient (FSRCQ) in patients with PNES were significantly lower in comparison with GGE (47.83⯱â¯32.68, 60.18⯱â¯35.35, pâ¯<â¯0.01), respectively. Multiple regression analysis did not demonstrate any significant effect of seizure frequency or epilepsy duration on attention and inhibitory control deficits, but patient's intelligence quotient (IQ) showed a significant effect on FSAQ and FSRCQ (ß: 0.997, pâ¯<â¯0.001; ß: 0.933, pâ¯<â¯0.001, respectively). Attention and inhibitory control are significantly impaired in patients with GGE and PNES. The cognitive deficits in patients with GGE and PNES have potentially important clinical implications in planning their neuropsychological rehabilitation.
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Atenção/fisiologia , Epilepsia Generalizada/psicologia , Inibição Psicológica , Transtornos Psicofisiológicos/psicologia , Convulsões/psicologia , Adulto , Estudos Transversais , Eletroencefalografia/métodos , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicofisiológicos/genética , Transtornos Psicofisiológicos/fisiopatologia , Convulsões/genética , Convulsões/fisiopatologia , Adulto JovemRESUMO
Backgrounds and aims: Clinical studies demonstrated that the efficacy of Coenzyme Q10 (CoQ10) as an adjuvant therapeutic agent in several neurological diseases such as Parkinson disease (PD), Huntington disease (HD), and migraine. The purpose of this study is to investigate oxidative stress effects, antioxidant enzymes activity, neuroinflammatory markers levels, and neurological outcome in acute ischemic stroke (AIS) patients following administration of CoQ10 (300â mg/day). Methods: Patients with AIS (n = 60) were randomly assigned to a placebo group (wheat starch, n = 30) or CoQ10-supplemented group (300â mg/day, n = 30). The intervention was administered for 4 weeks. Serum CoQ10 concentration, malondialdehyde (MDA), superoxide dismutase (SOD) activity, glial fibrillary acidic protein (GFAP) levels as primary outcomes and National Institute of Health Stroke Scale (NIHSS), Modified Ranking Scale (MRS), and Mini-Mental State Examination (MMSE) as secondary outcome were measured at the both beginning and end of the study. Results: Forty-four subjects with AIS completed the intervention study. A significant increase in CoQ10 level was observed in the supplement-treated group compared with placebo group (mean difference = 26.05 ± 26.63â ng/ml, 14.12 ± 14.69â ng/ml, respectively; P = 0.01), moreover CoQ10 supplementation improved NIHSS and MMSE scores significantly (P = 0.05, P = 0.03 respectively). but there were no statistically significant differences in MRS score, MDA, SOD, and GFAP levels between the two groups. Conclusions: CoQ10 probably due to low dose and short duration of supplementation, no favorable effects on MDA level, SOD activity and GFAP level.
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Isquemia Encefálica/dietoterapia , Fármacos Neuroprotetores/administração & dosagem , Acidente Vascular Cerebral/dietoterapia , Ubiquinona/análogos & derivados , Vitaminas/administração & dosagem , Idoso , Antioxidantes/metabolismo , Isquemia Encefálica/complicações , Isquemia Encefálica/metabolismo , Método Duplo-Cego , Encefalite/complicações , Encefalite/dietoterapia , Encefalite/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estresse Oxidativo/efeitos dos fármacos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/metabolismo , Ubiquinona/administração & dosagemRESUMO
OBJECTIVE: To compare three different oxygen therapy methods in primary headaches. METHODS: Design: A randomized placebo-controlled clinical trial was conducted between January 2016 and October 2017. SETTING: The emergency department of a university-affiliated urban hospital in Tehran, Iran. PARTICIPANTS: Adult patients (aged 18â¯years and above) with moderate and severe primary headaches (VAS score of 4 or more). INTERVENTIONS: Participants were allocated to one of four groups. Group A (nâ¯=â¯34) received 30â¯mg of intravenous ketorolac plus oxygen at 15â¯l/min (min) through a non-rebreather mask (NRB), group B (nâ¯=â¯34) received 30â¯mg of intravenous ketorolac plus 7â¯l/min of oxygen through a 60% venturi mask, group C (nâ¯=â¯34) received 30â¯mg of intravenous ketorolac plus 4â¯l/min of oxygen through a nasal cannula and group D (nâ¯=â¯34) received 30â¯mg of intravenous ketorolac and room air. MAIN OUTCOMES MEASURED: Pain was assessed using the visual analog scale (VAS) at 0, 15, 30 and 60â¯min after admission. RESULTS: Altogether, 136 patients were included. The most significant VAS change occurred in the NRB group at 30â¯min (p-valueâ¯=â¯0.001). At this point, pain reduction in the NRB group was clinically higher than for the venturi and nasal cannula groups, but this effect had disappeared at 60â¯min. CONCLUSION: Although the non-rebreather mask was significantly more effective at 30â¯min, after 60â¯min, none of the groups met the endpoint criterion of a 1.3-cm difference on the VAS scale.
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Anti-Inflamatórios não Esteroides/uso terapêutico , Cefaleia/terapia , Cetorolaco/uso terapêutico , Oxigenoterapia/métodos , Administração Intravenosa , Adulto , Serviço Hospitalar de Emergência , Feminino , Cefaleia/tratamento farmacológico , Humanos , Irã (Geográfico) , Masculino , Medição da Dor , Método Simples-CegoRESUMO
OBJECTIVE: The present study aimed to assess the effectiveness of oral citalopram, compared with fluoxetine and a placebo, in patients with post-stroke motor disabilities. DESIGN: A randomized double-blind placebo-controlled clinical trial was conducted between January 2015 and January 2016. SETTING: The neurology department of a university-affiliated urban hospital in Tehran, Iran. SUBJECTS: Ninety adult patients with acute ischemic stroke, hemiplegia, or hemiparesis and a Fugl-Meyer Motor Scale score of below 55 were included. INTERVENTIONS: Participants were randomly allocated to one of three groups: Group A received 20 mg PO of fluoxetine daily, Group B received 20 mg PO of citalopram daily, and Group C received a placebo PO The duration of the therapy was 90 days. In addition to the medications, all of the participants received physiotherapy. MAIN MEASURES: Functional status at 90 days, which was measured by the Fugl-Meyer Motor Scale score. RESULTS: The initial mean (SD) Fugl-Meyer Motor Scale scores for the placebo, fluoxetine, and citalopram groups were 18.2 (11.42), 20.08 (14.53), and 17.07 (14.92), respectively. After 90 days, the scores were 27.96 (18.71) for the placebo group, 52.42 (26.24) for the fluoxetine group, and 50.89 (27.17) for the citalopram group. Compared with the placebo group, the mean Fugl-Meyer Motor Scale scores showed significant increases in the fluoxetine and citalopram groups ( P = 0.001). CONCLUSION: There was no significant difference between citalopram and fluoxetine in facilitating post-stroke motor recovery in ischemic stroke patients. However, compared with a placebo, both drugs improved post-stroke motor function.
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Citalopram/uso terapêutico , Avaliação da Deficiência , Fluoxetina/uso terapêutico , Acidente Vascular Cerebral/terapia , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modalidades de Fisioterapia , Inibidores Seletivos de Recaptação de Serotonina/uso terapêuticoRESUMO
The objective of this study is to select one of the seven available clinical decision rules for minor head injury, for managing Iranian patients. This was a prospective cohort study evaluating medium- or high-risk minor head injury patients presenting to the Emergency Department. Patients with minor head trauma who were eligible for brain imaging based on seven available clinical decision rules (National Institute for Health and Clinical Excellence (NICE), National Emergency X-Radiography Utilization Study (NEXUS)-II, Neurotraumatology Committee of the World Federation of Neurosurgical Societies (NCWFNS), New Orleans, American College of Emergency Physicians (ACEP) Guideline, Scandinavian, and Canadian computed tomography (CT) head rule) were selected. Subjects were underwent a non-contrast axial spiral head CT scan. The outcome was defined as abnormal and normal head CT scan. Univariate analysis and stepwise linear regression were applied to show the best combination of risk factors for detecting CT scan abnormalities. Five hundred patients with minor head trauma were underwent brain CT scan. The following criteria were derived by stepwise linear regression: Glasgow Coma Scale (GCS) less than 15, confusion, signs of basal skull fracture, drug history of warfarin, vomiting more than once, loss of consciousness, focal neurologic deficit, and age over 65 years. This model has 86.15 % (75.33-93.45 %) sensitivity and 46.44 % (46.67-51.25 %) specificity in detecting minor head injury patients with CT scan abnormalities (95 % confidence interval). Of seven decision rules, only the Canadian CT Head Rule possesses seven of the eight high-risk factors associated with abnormal head CT results which were identified by this study. This study underlines the Canadian CT Head Rule's utility in Iranian minor head injury patients. Our study encourages researchers to evaluate available guidelines in different communities.
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Traumatismos Craniocerebrais/diagnóstico por imagem , Técnicas de Apoio para a Decisão , Tomografia Computadorizada por Raios X/estatística & dados numéricos , Ferimentos não Penetrantes/diagnóstico por imagem , Fatores Etários , Idoso , Feminino , Escala de Coma de Glasgow , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de RiscoRESUMO
BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. Clinical presentation includes ptosis, ophthalmoparesis, and progressive weakness with onset at birth or early infancy. METHODS: We followed 26 patients with COLQ-CMS over a mean period of 9 years (ranging from 3 to 213 months) and reported their clinical features, electrophysiologic findings, genetic characteristics, and therapeutic management. RESULTS: In our population, the onset of symptoms ranged from birth to 15 years. Delayed developmental motor milestones were detected in 13 patients (â¼ 52%), and the most common presenting signs were ptosis, ophthalmoparesis, and limb weakness. Sluggish pupils were seen in 8 (â¼ 30%) patients. All patients who underwent electrophysiologic study showed a significant decremental response (> 10%) following low-frequency repetitive nerve stimulation. Moreover, double compound muscle action potential was evident in 18 patients (â¼ 75%). We detected 14 variants (eight novel variants), including six missense, three frameshift, three nonsense, one synonymous and one copy number variation (CNV), in the COLQ gene. There was no benefit from esterase inhibitor treatment, while treatment with ephedrine and salbutamol was objectively efficient in all cases. CONCLUSION: Despite the rarity of the disease, our findings provide valuable information for understanding the clinical and electrophysiological features as well as the genetic characterization and response to the treatment of COLQ-CMS.
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Síndromes Miastênicas Congênitas , Oftalmoplegia , Recém-Nascido , Humanos , Síndromes Miastênicas Congênitas/genética , Acetilcolinesterase/genética , Acetilcolinesterase/uso terapêutico , Irã (Geográfico) , Variações do Número de Cópias de DNA , Proteínas Musculares/genética , Mutação , Colágeno/genética , Colágeno/uso terapêuticoRESUMO
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. Early diagnosis is crucial due to the increased risk of cardiomyopathy. We describe the clinical, histopathological, muscle imaging, and genetic findings of nine neutral lipid storage myopathy patients. Proximal weakness and asymmetric involvement may suggest lipid storage myopathy. While skeletal muscle weakness was the main manifestation in our patients, one case presented only with hyperCKemia. Additionally, three patients had fertility issues, two suffered from diabetes mellitus, two had cardiomyopathy, and one had a history of hypothyroidism. Muscle histopathology revealed lipid depositions and rimmed vacuoles, prompting peripheral blood smears to detect Jordan Anomalies. All muscle biopsies and peripheral blood smear showed lipid droplets, rimmed vacuoles, and Jordan anomaly. Identifying PNPLA2 gene mutations is important for diagnosing neutral lipid storage myopathy; our cases showed some novel mutations. This study highlights the importance of early diagnosis and comprehensive evaluation in managing neutral lipid storage myopathy cases.
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Cardiomiopatias , Eritrodermia Ictiosiforme Congênita , Erros Inatos do Metabolismo Lipídico , Doenças Musculares , Humanos , Irã (Geográfico) , Músculo Esquelético/patologia , Lipase/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/patologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/patologia , Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Cardiomiopatias/patologia , MutaçãoRESUMO
Background: Diagnosis of neuropsychiatric systemic lupus erythematosus (NPSLE) is challenging due to nonspecific biomarkers. High serum levels of neurofilament protein light subunit (NFL), high mobility group box 1 (HMGB1), Matrix metalloproteinase-9 (MMP-9) and have been reported in several autoimmune diseases. The aim of this study was to examine whether their plasma levels could serve as a diagnostic or prognostic biomarker for NPSLE. Methods: There were 90 SLE patients enrolled in this cross-sectional study (87.8% women and 12.2% men with a mean age of 41.67±11.05 years). We assessed the mental status of patients, also we measured the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and Systemic Lupus International Collaborating Clinics/ACR (SLICC/ ACR) Damage Index or SDI scores. Serum levels of NFL, HMGB1, MMP9, and ds-DNA were investigated to find a role in the pathophysiology of NPSLE. Results: Among the 90 patients with SLE, 63 (70%) met the criteria of NPSLE syndrome. Our results have shown a notable difference concerning SEDIAC-2k score, SDI score, PANS, MoCA, and Beck anxiety depression, between the two groups (p < 0.05). Although serum level of all measured serum biomarkers (NFL, MMP-9, HMGB1, dsDNA) were higher in patients with NPSLE, the difference was not statistically significant. Interestingly, our results showed that the serum level of NFL was correlated with the serum level of HMGB-1 and MMP-9. (r: 0.411, P=0.003). Conclusion: Serum level of NFL, HMGB-1 and MMP-9 may be used to detect abnormal mental status in patients with SLE.
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BACKGROUND AND OBJECTIVE: Amyotrophic lateral sclerosis (ALS) causes motor neuron loss and progressive paralysis. While traditionally viewed as motor neuron disease (MND), ALS also affects non-motor regions, such as the hypothalamus. This study aimed to quantify the hypothalamic subregion volumes in patients with ALS versus healthy controls (HCs) and examine their associations with demographic and clinical features. METHODS: Forty-eight participants (24 ALS patients and 24 HCs) underwent structural MRI. A deep convolutional neural network was used for the automated segmentation of the hypothalamic subunits, including the anterior-superior (a-sHyp), anterior-inferior (a-iHyp), superior tuberal (supTub), inferior tuberal (infTub), and posterior (posHyp). The neural network was validated using FreeSurfer v7.4.1, with individual head size variations normalized using total intracranial volume (TIV) normalization. Statistical analyses were performed for comparisons using independent sample t-tests. Correlations were calculated using Pearson's and Spearman's tests (p < 0.05). The standard mean difference (SMD) was used to compare the mean differences between parametric variables. RESULTS: The volume of the left a-sHyp hypothalamic subunit was significantly lower in ALS patients than in HCs (p = 0.023, SMD = -0.681). No significant correlation was found between the volume of the hypothalamic subunits, body mass index (BMI), and ALSFRS-R in patients with ALS. However, right a-sHyp (r = 0.420, p = 0.041) was correlated with disease duration, whereas right supTub (r = -0.471, p = 0.020) and left postHyp (r = -0.406, p = 0.049) were negatively correlated with age. There was no significant difference in the volume of hypothalamic subunits between males and females, and no significant difference was found between patients with revised ALS Functional Rating Scale (ALSFRS-R) scores ≤41 and >41 and those with a disease duration of 9 months or less. DISCUSSION AND CONCLUSION: The main finding suggests atrophy of the left a-sHyp hypothalamic subunit in patients with ALS, which is supported by previous research as an extra-motor neuroimaging finding for ALS.
Assuntos
Esclerose Lateral Amiotrófica , Hipotálamo , Imageamento por Ressonância Magnética , Humanos , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Esclerose Lateral Amiotrófica/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Hipotálamo/diagnóstico por imagem , Hipotálamo/patologia , Idoso , AdultoRESUMO
Background: We believe that designing a new tool which is comparable in terms of both sensitivity and specificity may play an important role in rapid and more accurate diagnosis of acute ischemic stroke (AIS) in prehospital stage. Therefore, we intended to develop a new clinical tool for the diagnosis of AIS in the prehospital stage. Methods: This was a cross-sectional diagnostic accuracy study. All patients transferred to the emergency department (ED) who underwent brain magnetic resonance imaging (MRI) with impression of AIS were evaluated by 9 clinical tools for stroke diagnosis in the pre-hospital phase including Rapid Arterial Occlusion Evaluation (RACE), Cincinnati Prehospital Stroke Scale (CPSS), Los Angeles Prehospital Stroke Screen (LAPSS), Melbourne Ambulance Stroke Screen (MASS), Medic Prehospital Assessment for Code Stroke (Med PACS), Ontario Prehospital Stroke Screening Tool (OPSS), PreHospital Ambulance Stroke Test (PreHAST), Recognition of Stroke in the Emergency Room (ROSIER), and Face Arm Speech Test (FAST), and totally 19 items were reviewed and recorded. The new clinical tool was developed based on backward method of multivariable logistic regression analysis. The discrimination power of the new clinical tool for diagnosis of AIS was assessed with the area under the receiver operating characteristic curve (AUC-ROC). Results: Data from 806 patients were analyzed; of them, 57.4% were men. The mean age of the study patients was 66.9 years [standard deviation (SD) = 13.9]. In the multivariable model, 8 items remained. The AUC-ROC of the new clinical tool was 0.893 [95% confidence interval (CI): 0.869-0.917], and its best cut-off point was score ≥ 3 for positive AIS. At this cut-off point, sensitivity and specificity were 84.42% and 79.72%, respectively. Conclusion: We introduced a new nomogram-based clinical tool for the diagnosis of AIS in the prehospital stage, which has acceptable specificity and sensitivity; moreover, it is comparable with previous tools.
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Key Clinical Message: Aluminum phosphide poisoning may cause rare visual impairment. In a case, a 31-year-old female, visual loss was linked to shock-induced hypoperfusion, causing oxygen lack and cerebral atrophy, emphasizing the need for identifying atypical symptoms. Abstract: This case report describes the multidisciplinary evaluation of a 31-year-old female patient who suffered from visual impairment as a result of aluminum phosphide (AlP) poisoning. Phosphine, which is formed in the body when AlP reacts with water, cannot cross the blood-brain barrier; therefore, visual impairment seems unlikely to be the direct result of phosphine. To our knowledge, it is the first documented report of such impairment due to AlP.
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BACKGROUND: SARS-CoV-2 infection may be associated with uncommon complications such as intracerebral hemorrhage (ICH), with a high mortality rate. We compared a series of hospitalized ICH cases infected with SARS-CoV-2 with a non-SARS-CoV-2 infected control group and evaluated if the SARS-CoV-2 infection is a predictor of mortality in ICH patients. METHODS: In a multinational retrospective study, 63 cases of ICH in SARS-CoV-2 infected patients admitted to 13 tertiary centers from the beginning of the pandemic were collected. We compared the clinical and radiological characteristics and in-hospital mortality of these patients with a control group of non-SARS-CoV-2 infected ICH patients of a previous cohort from the country where the majority of cases were recruited. RESULTS: Among 63 ICH patients with SARS-CoV-2 infection, 23 (36.5%) were women. Compared to the non-SARS-CoV-2 infected control group, in SARS-CoV-2 infected patients, ICH occurred at a younger age (61.4 ± 18.1 years versus 66.8 ± 16.2 years, P = 0.044). These patients had higher median ICH scores ([3 (IQR 2-4)] versus [2 (IQR 1-3)], P = 0.025), a more frequent history of diabetes (34% versus 16%, P = 0.007), and lower platelet counts (177.8 ± 77.8 × 109/L versus 240.5 ± 79.3 × 109/L, P < 0.001). The in-hospital mortality was not significantly different between cases and controls (65% versus 62%, P = 0.658) in univariate analysis; however, SARS-CoV-2 infection was significantly associated with in-hospital mortality (aOR = 4.3, 95% CI: 1.28-14.52) in multivariable analysis adjusting for potential confounders. CONCLUSION: Infection with SARS-CoV-2 may be associated with increased odds of in-hospital mortality in ICH patients.