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1.
J Med Case Rep ; 15(1): 495, 2021 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-34629090

RESUMO

BACKGROUND: Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick-Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. CASE PRESENTATION: We report on two Caucasian adolescent females, sisters, diagnosed with Melnick-Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. CONCLUSIONS: We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick-Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.


Assuntos
Transtorno Bipolar , Encefalopatias , Osteocondrodisplasias , Heterotopia Nodular Periventricular , Adolescente , Transtorno Bipolar/genética , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Masculino , Heterotopia Nodular Periventricular/genética
3.
BMC Neurol ; 21(1): 386, 2021 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-34615476

RESUMO

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is clinical-neuroradiologically defined and potentially reversible, so there are limited data about histopathological findings. We aimed to describe the clinical and paraclinical features of patients with PRES with regard to its reversibility. METHODS: This retrospective case series encompasses 15 PRES cases out of 1300 evaluated patients from a single German center between January 1, 2010, and June 15, 2020. PRES was established according to the diagnostic criteria as proposed by the Berlin PRES Study 2012. One of the cases studied was subject to brain autopsy. RESULTS: From the 15 patients studied (median age 53 years, range 17-73; 11 female), 67 % presented with epileptic seizures, 40 % suffered from encephalopathy with reduced consciousness and 53 % developed delirium, while 47 % had headache and visual disturbances. Subcortical brain MRI abnormalities related to PRES were observed in all patients. One patient developed spinal ischemia and another Guillain-Barré syndrome in addition to PRES. Hypertensive blood pressure was the main underlying/trigger condition in all patients. Clinical symptoms and MRI changes were not reversible in 42 %, even progressive in 3 out of these 5 patients. Median time from symptom onset to diagnosis in these non-reversible cases was 7 days (range 0-13), while the median delay in diagnosis in the reversible group was 1 day (range 0-3). Cerebellar/brain stem involvement and status epilepticus were more frequently in patients with non-reversible disease course. Mortality due to PRES occurred in 13 % of these patients. Neuropathological examination of the brain of a 57-year-old female patient revealed major leukencephalopathic changes, fibrinoid necrosis of endothelial cells and fresh petechial hemorrhages in accordance with PRES. CONCLUSIONS: Our case series demonstrates that PRES was not reversible in 42 % of the studied patients. Delay in diagnosis seems to contribute to limited reversibility and poor outcome.


Assuntos
Encefalopatias , Síndrome da Leucoencefalopatia Posterior , Adolescente , Adulto , Idoso , Células Endoteliais , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Estudos Retrospectivos , Adulto Jovem
4.
Orphanet J Rare Dis ; 16(1): 403, 2021 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-34587972

RESUMO

BACKGROUND: Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This disorder is characterized by bilateral striatal degradation and progressive polyneuropathy with the onset of fever of unknown origin. The limited number of reported cases and lack of functional annotation of related gene variants continue to limit diagnosis. RESULTS: We report three cases of encephalopathy from two unrelated pedigrees with basal ganglia signal changes after fever of unknown origin. To distinguish this from other types of encephalopathy, such as acute necrotizing encephalopathy, exome sequencing was performed, and four novel heterozygous variations, namely, c.169G>A (p.Ala57Thr), c.383C>T (p.Ala128Val), c.76G>A (p.Gly26Arg), and c.745T>A (p.Phe249Ile), were identified in SLC25A19. All variants were confirmed using Sanger sequencing. To determine the pathogenicity of these variants, functional studies were performed. We found that mitochondrial TPP levels were significantly decreased in the presence of SLC25A19 variants, indicating that TPP transport activities of mutated SLC25A19 proteins were impaired. Thus, combining clinical phenotype, genetic analysis, and functional studies, these variants were deemed as likely pathogenic. CONCLUSIONS: Exome sequencing analysis enables molecular diagnosis as well as provides potential etiology. Further studies will enable the elucidation of SLC25A19 protein function. Our investigation supplied key molecular evidence for the precise diagnosis of and clinical decision-making for a rare disease.


Assuntos
Encefalopatias , Proteínas de Transporte da Membrana Mitocondrial , Deficiência de Tiamina/genética , Humanos , Proteínas de Membrana Transportadoras/genética , Proteínas de Transporte da Membrana Mitocondrial/genética , Mutação/genética , Fenótipo , Tiamina
5.
Cells ; 10(9)2021 08 31.
Artigo em Inglês | MEDLINE | ID: mdl-34571912

RESUMO

COVID-19 presents with a wide range of clinical neurological manifestations. It has been recognized that SARS-CoV-2 infection affects both the central and peripheral nervous system, leading to smell and taste disturbances; acute ischemic and hemorrhagic cerebrovascular disease; encephalopathies and seizures; and causes most surviving patients to have long lasting neurological symptoms. Despite this, typical neuropathological features associated with the infection have still not been identified. Studies of post-mortem examinations of the cerebral cortex are obtained with difficulty due to laboratory safety concerns. In addition, they represent cases with different neurological symptoms, age or comorbidities, thus a larger number of brain autoptic data from multiple institutions would be crucial. Histopathological findings described here are aimed to increase the current knowledge on neuropathology of COVID-19 patients. We report post-mortem neuropathological findings of ten COVID-19 patients. A wide range of neuropathological lesions were seen. The cerebral cortex of all patients showed vascular changes, hyperemia of the meninges and perivascular inflammation in the cerebral parenchyma with hypoxic neuronal injury. Perivascular lymphocytic inflammation of predominantly CD8-positive T cells mixed with CD68-positive macrophages, targeting the disrupted vascular wall in the cerebral cortex, cerebellum and pons were seen. Our findings support recent reports highlighting a role of microvascular injury in COVID-19 neurological manifestations.


Assuntos
COVID-19/patologia , Córtex Cerebral/patologia , Idoso , Idoso de 80 Anos ou mais , Autopsia , Encéfalo/patologia , Encéfalo/virologia , Encefalopatias/patologia , Encefalopatias/virologia , Linfócitos T CD8-Positivos/patologia , Córtex Cerebral/virologia , Feminino , Humanos , Inflamação , Macrófagos/patologia , Masculino , Microvasos/patologia , Microvasos/virologia , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/virologia , SARS-CoV-2/patogenicidade
6.
BMJ Case Rep ; 14(9)2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544696

RESUMO

A 38-year-old man presented at the emergency department with abdominal pain, vomiting, generalised weakness and altered consciousness. He had been ingesting opioids for over 5 years and had several past hospital admissions for abdominal pain. His investigations showed deranged liver function tests, anaemia and basophilic stippling on the peripheral blood smear. Further investigations revealed a significant increase in the serum lead level. We started chelation with peroral penicillamine 250 mg every 6 hours for 2 days and switched to intramuscular dimercaprol 4 mg/kg every 12 hours and intravenous calcium ethylenediamine tetraacetic acid 50 mg/kg in two divided doses daily for the next 5 days. We then discharged him home; he had become clinically stable by that time. We repeated his lead level and followed him up in the clinic. In this report, we emphasise the consideration of lead toxicity in opioid abusers and bring to attention a rare way of lead chelation in resource-limited settings.


Assuntos
Encefalopatias , Intoxicação por Chumbo , Dor Abdominal , Adulto , Analgésicos Opioides/efeitos adversos , Humanos , Chumbo , Intoxicação por Chumbo/diagnóstico , Intoxicação por Chumbo/tratamento farmacológico , Masculino
7.
BMJ Case Rep ; 14(9)2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544697

RESUMO

A 66-year-old woman presented to us with features of encephalopathy with asterixis, preceded by unsteadiness of gait and behavioural abnormalities. On subsequent investigations, hypercalcaemic crisis and compromised renal function were noted. Stepwise approach to determine the cause behind hypercalcaemia with compromised renal function revealed underlying granulomatous disease (sarcoidosis). Later, development of maculopapular rash and subsequent biopsy from the lesion confirmed the diagnosis of sarcoidosis. Her clinical and biochemical parameters improved considerably on initiation of conservative pharmacological therapy.


Assuntos
Encefalopatias , Hipercalcemia , Sarcoidose , Idoso , Biópsia , Encefalopatias/diagnóstico , Encefalopatias/tratamento farmacológico , Encefalopatias/etiologia , Feminino , Granuloma , Humanos , Hipercalcemia/etiologia , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
8.
J Laryngol Otol ; 135(11): 981-986, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34470691

RESUMO

BACKGROUND: Treatment of coronavirus disease 2019 infection can result in immunosuppression. Rhino-orbital-cerebral mucormycosis is a frequent co-infection, even after recovery. METHODS: An ambispective interventional study was conducted of 41 coronavirus patients with rhino-orbital-cerebral mucormycosis at a tertiary care centre from March to May 2021. RESULTS: There were 28 males and 13 females with a mean age of 48.2 years (range, 21-68 years). Twelve had long-standing diabetes mellitus and 28 had been recently diagnosed. Thirty-six had received systemic corticosteroids for coronavirus disease 2019. Nasal signs were present in 95 per cent of patients, ophthalmic symptoms and signs in 87 per cent, palatal necrosis in 46.3 per cent, facial signs in 24.3 per cent, nerve palsies in 60.9 per cent, and intracranial involvement in 21.9 per cent. Treatment with amphotericin B was based on clinical features and co-morbidities. Endonasal debridement was performed in 51.2 per cent of patients, total maxillectomy in 14.6 per cent and orbital exenteration in 9.7 per cent. At the last follow up, 37 patients (90.24 per cent) were on antifungal therapy; 4 (9.75 per cent) did not survive. CONCLUSION: Early detection may improve survival. Follow up of high-risk patients after coronavirus disease 2019 infection is paramount.


Assuntos
COVID-19/epidemiologia , Coinfecção/epidemiologia , Epidemias , Mucorales , Mucormicose/epidemiologia , SARS-CoV-2 , Adulto , Idoso , Antifúngicos/uso terapêutico , Encefalopatias/epidemiologia , Encefalopatias/microbiologia , COVID-19/microbiologia , Coinfecção/microbiologia , Desbridamento , Infecções Oculares Fúngicas/epidemiologia , Infecções Oculares Fúngicas/microbiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mucormicose/microbiologia , Doenças Orbitárias/epidemiologia , Doenças Orbitárias/microbiologia , Rinite/epidemiologia , Rinite/microbiologia , Adulto Jovem
9.
BMC Neurol ; 21(1): 356, 2021 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-34525954

RESUMO

BACKGROUND: Reversible splenial lesion syndrome (RESLES) was reported to be associated with variable entities. However, much less is known about the cases in which the mental disorders act as the only manifestation. METHOD: Total ten patients of RESLES were obtained in this retrospective study from Shenzhen Kangning Hospital. T1-fluid attenuated inversion recovery (T1-FLAIR), T2-weighted images, T2-FLAIR, diffusion-weighted images and apparent diffusion coefficient map were performed on all the patients. Clinical manifestations, laboratory examination results, magnetic resonance imaging (MRI) findings, treatments and outcomes were analyzed. RESULT: All patients showed different mental disorders as the only manifestation. There were two cases of alcohol abuse, one of Asperger's syndrome with malnutrition, one of infection and one of invasive pituitary adenoma. The other cases were diagnosis as major depressive disorder, dissociative and conversion disorders, undifferentiated somatoform disorder, unspecified psychosis and bipolar disorder, respectively. Three patients were completely recovered while the clinical symptoms of rest seven patients partially recovered at the follow-up three months later. Oval-shaped lesion centered on the splenial of corpus callosum (SCC) was observed in all patients using MRI. The lesions of SCC of all patients were completely resolved within five weeks. CONCLUSIONS: We found that RESLES might only showed mental symptoms. On the one hand, for the patients with acute mental disorders, clinicians should be alert to the possibility of RESLES caused by physical disease. On the other hand, we suggest that mental disorder might be a precipitating factor of RESLES.


Assuntos
Encefalopatias , Transtorno Depressivo Maior , Transtornos Mentais , Corpo Caloso/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Transtornos Mentais/complicações , Estudos Retrospectivos
11.
J Coll Physicians Surg Pak ; 31(1): S42-S45, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34530550

RESUMO

The aim of this retrospective observational study was to describe the neuroimaging manifestations of patients with COVID-19. This study was conducted at Aga Khan University Hospital, Karachi, Pakistan from March to July 2020. COVID-19 patients with neurological symptoms and positive neuroimaging were included after confirmation of COVID-19 by polymerase chain reaction test (PCR). In the 12 included patients, seizures and altered mentation were predominant neurological manifestations. Three cases had acute watershed infarcts (25%), two cases had posterior cerebral artery territorial infarcts (16.7%), two cases had periventricular corona radiata infarcts (16.7%), three cases had hypoxic ischemic encephalopathy (25%), two cases had posterior reversible encephalopathy syndrome (16.7%), and there was one case each of cerebral venous sinus thrombosis, pontine infarct, and bithalamic lesions (8.3%). This study highlights the diagnostic approaches in COVID-19-associated encephalopathy and the variable imaging features that clinicians and neuroradiologists should be aware of, as the pandemic progresses. Key Words: COVID-19, Neuroimaging, Encephalopathy, Magnetic resonance imaging, Coronavirus.


Assuntos
Encefalopatias , COVID-19 , Síndrome da Leucoencefalopatia Posterior , Encefalopatias/diagnóstico por imagem , Encefalopatias/etiologia , Humanos , Imageamento por Ressonância Magnética , Pandemias , SARS-CoV-2
12.
BMC Infect Dis ; 21(1): 904, 2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34479504

RESUMO

BACKGROUND/OBJECTIVE: Severe fever with thrombocytopenia syndrome (SFTS) cause encephalitis/encephalopathy, but few reports were available. We aimed to investigate the incidence of encephalitis/encephalopathy in SFTS patients and to summarize clinical characteristics, laboratory findings and imaging features. METHODS: We conducted a retrospective review of all patients with confirmed SFTS admitted to Nanjing Drum Tower Hospital, a tertiary hospital in Nanjing City, China, between January 2016 and July 2020. The patients were divided into two groups according to whether they had encephalitis/encephalopathy: encephalitis/encephalopathy group and non- encephalitis/encephalopathy group. Clinical data, laboratory findings, imaging characteristics, treatments and outcomes of these patients were collected and analyzed. RESULTS: A total of 109 SFTS patients with were included, of whom 30 (27.5 %) developed encephalitis/encephalopathy. In-hospital mortality (43.3 %) was higher in encephalitis/encephalopathy group than non-encephalitis/encephalopathy group (12.7 %). Univariate logistic regression showed that cough, wheezing, dyspnoea, respiratory failure, vasopressors use, bacteremia, invasive pulmonary aspergillosis (IPA) diagnoses, PCT > 0.5 ug/L, CRP > 8 mg/L, AST > 200 U/L and serum amylase level > 80 U/L were the risk factors for the development of encephalitis/encephalopathy for SFTS patients. Multivariate logistic regression analysis identified bacteremia, PCT > 0.5 mg/L and serum amylase level > 80 U/L as independent predictors of encephalitis/ encephalopathy development for SFTS patients. CONCLUSIONS: SFTS-associated encephalitis/encephalopathy has high morbidity and mortality. it was necessary to strengthen the screening of CSF testing and brain imaging after admission for SFTS patients who had symptoms of encephalitis/encephalopathy. SFTS patients with bacteremia, PCT > 0.5 ug/L or serum amylase level > 80 U/L should be warned to progress to encephalopathy.


Assuntos
Encefalopatias , Encefalite , Phlebovirus , Febre Grave com Síndrome de Trombocitopenia , Encefalopatias/epidemiologia , China/epidemiologia , Encefalite/diagnóstico , Encefalite/epidemiologia , Humanos , Estudos Retrospectivos
13.
BMC Neurol ; 21(1): 355, 2021 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-34521381

RESUMO

BACKGROUND: Continuous spike and wave of sleep with encephalopathy (CSWS) is a rare and severe developmental electroclinical epileptic encephalopathy characterized by seizures, abundant sleep activated interictal epileptiform discharges, and cognitive regression or deceleration of expected cognitive growth. The cause of the cognitive symptoms is unknown, and efforts to link epileptiform activity to cognitive function have been unrevealing. Converging lines of evidence implicate thalamocortical circuits in these disorders. Sleep spindles are generated and propagated by the same thalamocortical circuits that can generate spikes and, in healthy sleep, support memory consolidation. As such, sleep spindle deficits may provide a physiologically relevant mechanistic biomarker for cognitive dysfunction in epileptic encephalopathies. CASE PRESENTATION: We describe the longitudinal course of a child with CSWS with initial cognitive regression followed by dramatic cognitive improvement after treatment. Using validated automated detection algorithms, we analyzed electroencephalograms for epileptiform discharges and sleep spindles alongside contemporaneous neuropsychological evaluations over the course of the patient's disease. We found that sleep spindles increased dramatically with high-dose diazepam treatment, corresponding with marked improvements in cognitive performance. We also found that the sleep spindle rate was anticorrelated to spike rate, consistent with a competitively shared underlying thalamocortical circuitry. CONCLUSIONS: Epileptic encephalopathies are challenging electroclinical syndromes characterized by combined seizures and a deceleration or regression in cognitive skills over childhood. This report identifies thalamocortical circuit dysfunction in a case of epileptic encephalopathy and motivates future investigations of sleep spindles as a biomarker of cognitive function and a potential therapeutic target in this challenging disease.


Assuntos
Encefalopatias , Diazepam , Criança , Cognição , Eletroencefalografia , Humanos , Sono
14.
JNMA J Nepal Med Assoc ; 59(240): 808-811, 2021 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-34508476

RESUMO

Coronavirus Disease has become a global pandemic after its emergence at the end of 2019 as a cluster of pneumonia. Apart from respiratory symptoms, neurologic complications are also common, mostly in hospitalized patients. More than 80 percent of patients have neurological symptoms during their disease course of which most common is encephalopathy. However, data on neurological complications like Guillain-Barré syndrome associated with coronavirus-2019 are scarce. Here, we report a case of a 64-years-old female patient with typical clinical and electrophysiological manifestations of Acute motor axonal neuropathy variant, who was reported positive with polymerase chain reaction for severe acute respiratory syndrome coronavirus-2, 13 days before the onset of acute bilateral weakness of extremities, areflexia, and normal sensory examination. Cerebrospinal fluid and electrophysiological examination were also suggestive. The neurological symptoms improved during treatment with immunoglobulins. Quick recognition of symptoms and diagnosis is important in the management of Guillain-Barré syndrome associated with coronavirus-2019.


Assuntos
Encefalopatias , COVID-19 , Síndrome de Guillain-Barré , Feminino , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/tratamento farmacológico , Humanos , Pessoa de Meia-Idade , Pandemias , SARS-CoV-2
15.
Artigo em Chinês | MEDLINE | ID: mdl-34488269

RESUMO

Objective: To explore the effects of narrative therapy on cognition, emotion and treatment satisfaction of convalescent patients with occupational acute chemical toxic encephalopathy. Methods: From June to July 2019, 60 convalescent patients with occupational chemical poisoning encephalopathy were randomly divided into narrative group and control group, with 30 cases in each group. The control group received routine clinical treatment. On the basis of receiving the original clinical treatment, patients in the narrative group added narrative treatment once a week to explain discomfort in specific life situations through conversation from the perspective of disease and psychology. 30 min each time for 6 weeks. The patients were investigated with Montreal Cognitive Assessment Scale (MoCA scale) every 2 weeks to evaluate the degree of cognitive impairment. The changes of depression, anxiety and treatment satisfaction were investigated before and after intervention. Results: There was no significant difference in MoCA scores between the two groups before intervention (P>0.05) . After 6 weeks of treatment, MoCA scores of narrative group and control group gradually increased with the extension of treatment time, and the increase degree of MoCA score of narrative group was greater than that of control group (P<0.01) . Before intervention, there was no significant difference in depression, anxiety score, prevalence and satisfaction index between narrative group and control group (P>0.05) . After the intervention, the scores and prevalence of depression and anxiety in the narrative group were significantly lower than those in the control group, and the scores of feeling in the process of seeing a doctor and how to obtain their own disease information were significantly higher than those in the control group (P<0.05) . Conclusion: Narrative therapy can improve the cognitive function and emotion of patients with occupational chemical poisoning, and improve the treatment satisfaction of patients.


Assuntos
Encefalopatias , Disfunção Cognitiva , Terapia Narrativa , Síndromes Neurotóxicas , Cognição , Disfunção Cognitiva/induzido quimicamente , Humanos
16.
J Neurol Sci ; 428: 117605, 2021 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-34375916

RESUMO

Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent porphyria is by far the most common subtype. Neurology of the AHP is still challenging in practice, and patients rarely receive the correct diagnosis early in the disease course. For AHP, which primarily affects the central and peripheral nervous system, the cause of symptoms seems to be the increased production of neurotoxic precursors, in particular delta-aminolaevulinic acid and porphobilinogen. Neurological complications usually result from severe episodes of acute attacks. The neurologic hallmark of porphyrias is an acute predominantly motor axonal neuropathy resembling a Guillain-Barré syndrome that generally occurs after the onset of other clinical features such as abdominal pain and central nervous system manifestations. Neuropsychiatric syndromes, seizures, encephalopathy, and cerebrovascular disorders are among the possible central nervous system presentations. Therapeutic approach to AHP is divided into management and prophylaxis of an acute attack, including long standing options such as intravenous hematin and new therapeutic agents such as givosiran.


Assuntos
Encefalopatias , Síndrome de Guillain-Barré , Neurologia , Porfiria Aguda Intermitente , Porfirias Hepáticas , Humanos , Porfiria Aguda Intermitente/complicações , Porfiria Aguda Intermitente/diagnóstico , Porfiria Aguda Intermitente/terapia , Porfirias Hepáticas/complicações , Porfirias Hepáticas/diagnóstico , Porfirias Hepáticas/epidemiologia
17.
J Int Med Res ; 49(7): 3000605211029766, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34334006

RESUMO

A 28-year-old female patient was hospitalized primarily because of "intermittent fever for 28 days aggravated by systemic rashes, oral ulcer, and edema in both eyelids for 5 days." During treatment, convulsions and loss of consciousness occurred. Magnetic resonance imaging (MRI) of the head revealed an abnormal signal with shadows in the bilateral frontal, parietal, temporal, and occipital lobes; cerebellar hemispheres; and basal nodes, with high signal intensity on T2 weighted imaging (T2WI), on fluid-attenuated inversion-recovery, and of the apparent diffusion coefficient and low signal intensity on T1WI and diffusion weighted imaging. Therefore, the patient was diagnosed with systemic lupus erythematosus (SLE) with reversible posterior encephalopathy syndrome (RPES). Intravenous high-dose methylprednisolone and cyclophosphamide were administered for blood pressure control, which effectively controlled the disease. Therefore, when patients with SLE and hypertension or renal insufficiency or those receiving high-dose methylprednisolone or immunosuppressants suddenly present with neurologic abnormalities, a diagnosis of RPES must be considered, and head MRI is the first choice for diagnosis of this disease. In terms of treatment, the blood pressure should be quickly controlled, and the primary disease should be aggressively treated.


Assuntos
Encefalopatias , Lúpus Eritematoso Sistêmico , Síndrome da Leucoencefalopatia Posterior , Adulto , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico por imagem , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Imageamento por Ressonância Magnética , Síndrome da Leucoencefalopatia Posterior/complicações , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Síndrome da Leucoencefalopatia Posterior/tratamento farmacológico
19.
Int J Mol Sci ; 22(15)2021 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-34361091

RESUMO

Oxidative phosphorylation (OxPhos) is the basic function of mitochondria, although the landscape of mitochondrial functions is continuously growing to include more aspects of cellular homeostasis. Thanks to the application of -omics technologies to the study of the OxPhos system, novel features emerge from the cataloging of novel proteins as mitochondrial thus adding details to the mitochondrial proteome and defining novel metabolic cellular interrelations, especially in the human brain. We focussed on the diversity of bioenergetics demand and different aspects of mitochondrial structure, functions, and dysfunction in the brain. Definition such as 'mitoexome', 'mitoproteome' and 'mitointeractome' have entered the field of 'mitochondrial medicine'. In this context, we reviewed several genetic defects that hamper the last step of aerobic metabolism, mostly involving the nervous tissue as one of the most prominent energy-dependent tissues and, as consequence, as a primary target of mitochondrial dysfunction. The dual genetic origin of the OxPhos complexes is one of the reasons for the complexity of the genotype-phenotype correlation when facing human diseases associated with mitochondrial defects. Such complexity clinically manifests with extremely heterogeneous symptoms, ranging from organ-specific to multisystemic dysfunction with different clinical courses. Finally, we briefly discuss the future directions of the multi-omics study of human brain disorders.


Assuntos
Encefalopatias/patologia , Metabolismo Energético , Mitocôndrias/patologia , Doenças Mitocondriais/patologia , Fosforilação Oxidativa , Animais , Encefalopatias/metabolismo , Humanos , Mitocôndrias/metabolismo , Doenças Mitocondriais/metabolismo
20.
Brain Behav ; 11(8): e2306, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34333864

RESUMO

PURPOSE: To investigate the clinical features, imaging features, and prognosis of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children METHODS: The clinical and imaging data of a cohort of 28 children diagnosed as MERS from January 2019 to October 2020 were retrospectively analyzed RESULTS: Of the 28 patients, 17 were males and 11 were females. The onset age ranged from 8 months to 12 years old, with an average age of 4 years and 2 months. All children developed normally before onset, and three of them had a history of febrile convulsion. More than half of the patients (62.9%) had preceding infections of gastrointestinal tract. All the cases developed seizures, and most (71.4%) had more than one time. Other neurological symptoms included dizziness/headache, consciousness disorder, limb weakness, blurred vision, and dysarthria. Cranial magnetic resonance imaging (MRI) showed lesions in the splenium of the corpus callosum in all, extending to other areas of the corpus callosum, bilateral semi-ovoid center, and adjacent periventricular in two cases. The clinical symptoms were relieved after steroids, intravenous immunogloblin, and symptomatic treatment, without abnormal neurodevelopment during the followed-up (2 months-2 years). Complete resolution of the lesions was observed 8-60 days after the initial MRI examinations CONCLUSION: MERS in children is related to prodromal infection mostly, with a wide spectrum of neurologic symptoms, characteristic MRI manifestations, and good prognosis.


Assuntos
Encefalopatias , Encefalite , Criança , Pré-Escolar , Estudos de Coortes , Corpo Caloso/diagnóstico por imagem , Encefalite/diagnóstico por imagem , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos
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