37,381 results match your criteria Lead Encephalopathy

An integrative approach to predict severity in nonketotic hyperglycinemia.

Ann Neurol 2022 May 26. Epub 2022 May 26.

Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and MetabERN, Barcelona, Spain.

Objective: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation of predictive approaches are needed.

Methods: Longitudinal clinical and biochemical data of 25 individuals with NKH from the patient registry of International Working Group on Neurotransmitter related Disorders were studied with in silico analyses, pathogenicity scores and molecular modeling of GLDC and AMT variants. Read More

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Bisphenol F Impaired Zebrafish Cognitive Ability through Inducing Neural Cell Heterogeneous Responses.

Environ Sci Technol 2022 May 26. Epub 2022 May 26.

Institute of Quality Standard and Testing Technology for Agro-Products, Chinese Academy of Agricultural Sciences, Beijing 100098, People's Republic of China.

The central nervous system (CNS) is a sensitive target for endocrine-disrupting chemicals, such as bisphenol analogues. Bisphenol A (BPA) usage is associated with the occurrence of many neurological diseases. With the restricted use of BPA, bisphenol F (BPF) has been greatly introduced for industrial manufacture and brings new hazards to public CNS health. Read More

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Clin Genet 2022 May 26. Epub 2022 May 26.

Institute of Human Genetics, University of Münster, Münster, Germany.

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Read More

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[Neuropsychiatric presentations of amyotrophic lateral sclerosis].

Zh Nevrol Psikhiatr Im S S Korsakova 2022 ;122(5):36-42

Buyanov Moscow city clinical hospital, Moscow, Russia.

Neuropsychiatric presentations are observed in a substantial number of patients with amyotrophic lateral sclerosis (ALS). Severe behavioral disorders develop in ALS combined with frontotemporal dementia, which are considered to be a disease continuum. Psychiatric disorders in ALS with predominantly motor symptoms are less prominent and mostly presented with apathy. Read More

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A rare endocrinological complication of chronic kidney disease.

Turk J Pediatr 2022 ;64(2):375-380

Divisions of Nephrology, Department of Pediatrics, University of Health Sciences, İzmir Tepecik Training and Research Hospital, İzmir.

Background: Chronic kidney disease (CKD) may lead to increase in serum levels of peptide hormones as a result of changes in peripheral metabolism. The pathogenesis of uremic hyperprolactinemia in CKD is not fully understood. Plasma prolactin levels are elevated in women, pubertal girls, and also in men with chronic kidney disease. Read More

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Caffeine attenuates liver damage and improves neurologic signs in a rat model of hepatic encephalopathy.

Rev Gastroenterol Mex (Engl Ed) 2022 May 21. Epub 2022 May 21.

Departamento de Medicina, Facultad Evangélica Mackenzie de Paraná, Curitiba, Paraná, Brazil; Instituto de Investigación Denton Cooley, Ciencia y Tecnología, Curitiba, Paraná, Brazil; Departamento de Investigación Médica, Instituto del Corazón de Curitiba (InCOR), Curitiba, Paraná, Brazil.

Introduction And Aims: Cirrhosis is the common outcome of liver diseases. It can be decompensated and lead to the development of complications, such as encephalopathy. Hyperammonemia that develops due to liver dysfunction is etiopathologically related to hepatic encephalopathy. Read More

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Exposing the role of metals in neurological disorders: a focus on manganese.

Trends Mol Med 2022 May 21. Epub 2022 May 21.

School of Health Sciences, Purdue University, West Lafayette, IN 47907, USA. Electronic address:

Metals are ubiquitous chemical entities involved in a myriad of biological processes. Despite their integral role in sustaining life, overexposure can lead to deleterious neurological outcomes posing a public health concern. Excess exposure to metals has been associated with aberrant neurodevelopmental and neurodegenerative diseases and prominently contributes to environmental risk for neurological disorders. Read More

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Roles of Yes-associated protein and transcriptional coactivator with PDZ-binding motif in non-neoplastic liver diseases.

Biomed Pharmacother 2022 May 21;151:113166. Epub 2022 May 21.

Institute of Basic and Translational Medicine, Shaanxi Key Laboratory of Brain Disorders, Xi'an Medical University, Xi'an, Shaanxi 710021, China. Electronic address:

The prevalence of liver disease has been increasing worldwide. Moreover, the burden of end-stage liver disease, including cirrhosis and liver cancer, is high because of high mortality and suboptimal treatment. The pathological process of liver disease includes steatosis, hepatocyte death, and fibrosis, which ultimately lead to cirrhosis and liver cancer. Read More

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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Hum Mutat 2022 May 24. Epub 2022 May 24.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

Alternative splicing (AS) is crucial for cell-type specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have been recently associated with a new neurodevelopmental disorder (NDD) with hypotonia, neurological features, and brain abnormalities. We investigated eight unrelated individuals by exome sequencing (ES) and identified seven novel pathogenic NOVA2 variants, including two with a novel localization at the KH1 and KH3 domains. Read More

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Mechanisms of Mitochondrial Malfunction in Alzheimer's Disease: New Therapeutic Hope.

Oxid Med Cell Longev 2022 14;2022:4759963. Epub 2022 May 14.

West China School of Nursing/Institutes for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, 610041 Chengdu, Sichuan, China.

Mitochondria play a critical role in neuron viability or death as it regulates energy metabolism and cell death pathways. They are essential for cellular energy metabolism, reactive oxygen species production, apoptosis, Ca homeostasis, aging, and regeneration. Mitophagy and mitochondrial dynamics are thus essential processes in the quality control of mitochondria. Read More

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Vagus nerve stimulation for conservative therapy-refractive epilepsy and depression.

Laryngorhinootologie 2022 May 23;101(S 01):S114-S143. Epub 2022 May 23.

Klinik für HNO-Heilkunde, Kopf- und Halschirurgie, KRH Klinikum Nordstadt, Hannover.

Numerous studies confirm that the vagus nerve stimulation (VNS) is an efficient, indirect neuromodulatory therapy with electrically induced current for epilepsy that cannot be treated by epilepsy surgery and is therapy-refractory and for drug therapy-refractory depression. VNS is an established, evidence-based and in the long-term cost-effective therapy in an interdisciplinary overall concept.Long-term data on the safety and tolerance of the method are available despite the heterogeneity of the patient populations. Read More

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Implementation of Minimally Invasive Brain Tumor Resection in Rodents for High Viability Tissue Collection.

J Vis Exp 2022 May 9(183). Epub 2022 May 9.

Department of Neurosurgery, Johns Hopkins University School of Medicine;

The present protocol describes a standardized paradigm for rodent brain tumor resection and tissue preservation. In clinical practice, maximal tumor resection is the standard-of-care treatment for most brain tumors. However, most currently available preclinical brain tumor models either do not include resection, or utilize surgical resection models that are time-consuming and lead to significant postoperative morbidity, mortality, or experimental variability. Read More

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Comprehensive Analysis of lncRNAs, miRNAs and mRNAs in Mouse Hippocampus With Hepatic Encephalopathy.

Front Genet 2022 5;13:868716. Epub 2022 May 5.

Department of Anatomy, Neuroscience Laboratory for Cognitive and Developmental Disorders, Medical College of Jinan University, Guangzhou, China.

Hepatic encephalopathy (HE) often presents with varying degrees of cognitive impairment. However, the molecular mechanism of its cognitive impairment has not been fully elucidated. Whole transcriptome analysis of hippocampus between normal and HE mice was performed by using RNA sequencing. Read More

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Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.

Front Genet 2022 5;13:870192. Epub 2022 May 5.

Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare disease caused by mutations in FAM111B, and only approximately 30 cases have been reported worldwide. Some patients develop interstitial pneumonia, which may lead to progressive pulmonary fibrosis and poor prognosis. However, no effective treatment for interstitial pneumonia associated with POIKTMP has been reported. Read More

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AMPLIFY-NEOVAC: a randomized, 3-arm multicenter phase I trial to assess safety, tolerability and immunogenicity of IDH1-vac combined with an immune checkpoint inhibitor targeting programmed death-ligand 1 in isocitrate dehydrogenase 1 mutant gliomas.

Neurol Res Pract 2022 May 23;4(1):20. Epub 2022 May 23.

DKTK (German Cancer Consortium) Clinical Cooperation Unit (CCU) Neuroimmunology and Brain Tumor Immunology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Introduction: Isocitrate dehydrogenase (IDH) mutations are disease-defining mutations in IDH-mutant astrocytomas and IDH-mutant and 1p/19q-codeleted oligodendrogliomas. In more than 80% of these tumors, point mutations in IDH type 1 (IDH1) lead to expression of the tumor-specific protein IDH1R132H. IDH1R132H harbors a major histocompatibility complex class II (MHCII)-restricted neoantigen that was safely and successfully targeted in a first-in human clinical phase 1 trial evaluating an IDH1R132H 20-mer peptide vaccine (IDH1-vac) in newly diagnosed astrocytomas concomitant to standard of care (SOC). Read More

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Seizures after vaccines.

Therapie 2022 Apr 26. Epub 2022 Apr 26.

Service d'analyse et de recueil des données, centre national de pharmacovigilance, 9, avenue du Dr Zouhaier Essafi, 1006 Tunis, Tunisia; Faculté de médecine de Tunis, 1006 Tunis, Tunisia; Université Tunis El Manar, Faculté de médecine, Unité de recherche, UR17ES12, 1006 Tunis, Tunisia.

Immunization plays an important role in achieving global health goals. Thus, vaccination is one of the essential means of preventing infectious and viral diseases. The onset of adverse events following immunization (AEFI) is common and most of the time it is a mild effect. Read More

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Opioid analgesia and temperature regulation are associated with EEG background activity and MRI outcomes in neonates with mild-to-moderate hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.

Eur J Paediatr Neurol 2022 Apr 16;39:11-18. Epub 2022 Apr 16.

Research Centre, Sainte-Justine University Hospital Center, 3175 Chemin de la Cote-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada; Institute of Biomedical Engineering, University of Montreal, 2900 Edouard Montpetit Blvd, Montreal, QC, H3T 1A4, Canada; Department of Radiology, Radio-oncology and Nuclear Medicine, University of Montreal, 2900 Edouard Montpetit Blvd, Montreal, QC, H3T 1A4, Canada. Electronic address:

Background: Therapeutic hypothermia (TH) without sedation may lead to discomfort, which may be associated with adverse consequences in neonates with hypoxic-ischemic encephalopathy (HIE). The aim of this study was to assess the association between level of exposure to opioids and temperature, with electroencephalography (EEG) background activity post-TH and magnetic resonance imaging (MRI) brain injury in neonates with HIE.

Methods: Thirty-one neonates with mild-to-moderate HIE who underwent TH were identified. Read More

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The role of short-chain fatty acids in central nervous system diseases.

Yin Dong Chun Cui

Mol Cell Biochem 2022 May 21. Epub 2022 May 21.

Wuxi Medical School, Jiangnan University, Wuxi, 214122, Jiangsu, China.

Previous studies have found that intracorporal short-chain fatty acids (SCFAs), as the main metabolites of the gut microbiota, play important roles in the intestinal physiology and immune function. Along with the in-depth study of the brain-gut axis, the attention to the roles of SCFAs in central nervous system (CNS) has been raised. It has been found that SCFAs function in CNS diseases by regulating inflammatory response, neuronal apoptosis, oxidative stress, the integrity of the blood-brain barrier (BBB) and so on. Read More

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Epilepsy in neurodegenerative diseases.

Epileptic Disord 2022 Apr;24(2):249-273

Danish Epilepsy Centre, Dianalund, Denmark.

Although epilepsy as a comorbidity in neurodegenerative disorders is increasingly recognized, its incidence is still underestimated and the features of epilepsy in the different neurodegenerative conditions are still poorly defined. Improved health care, resulting in increased longevity, will unavoidably lead to an increment of epilepsy cases in the elderly. Thus, it is conceivable to expect that neurologists will have to deal with these comorbid conditions to a growing extent in the future. Read More

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Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature.

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221101855

Maimonides Medical Center, Brooklyn, NY, USA.

Elevated ammonia levels lead to cerebral edema, encephalopathy, seizures, coma, and death. Hyperammonemia is primarily associated with liver disease; however, there are rare cases without liver disease. Noncirrhotic hyperammonemia is primarily due to increased production and/or decreased elimination of ammonia. Read More

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Identification of adeno-associated virus variants for gene transfer into human neural cell types by parallel capsid screening.

Sci Rep 2022 May 19;12(1):8356. Epub 2022 May 19.

Institute of Reconstructive Neurobiology, University of Bonn Medical Faculty and University Hospital Bonn, Venusberg-Campus 1, Building 76, 53127, Bonn, Germany.

Human brain cells generated by in vitro cell programming provide exciting prospects for disease modeling, drug discovery and cell therapy. These applications frequently require efficient and clinically compliant tools for genetic modification of the cells. Recombinant adeno-associated viruses (AAVs) fulfill these prerequisites for a number of reasons, including the availability of a myriad of AAV capsid variants with distinct cell type specificity (also called tropism). Read More

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[Treatment and Care for Elderly Patients with Dementia with Lewy Bodies Presenting with Delusional Misidentification Syndrome Including Capgras Syndrome: Severe Psychiatric Symptoms Associated with Dementia with Lewy Bodies].

Brain Nerve 2022 May;74(5):685-691

Department of Neuropsychiatry, Ashikaga Red Cross Hospital.

The treatment and care for severe psychiatric symptoms associated with dementia with Lewy bodies is challenging. This is especially true for elderly patients because the use of antipsychotics is associated with an attendant mortality risk. In this article, dementia patients with Lewy bodies who presented with severe psychiatric symptoms such as Capgras syndrome (delusional misidentification syndrome), are described, and pharmacological and non-pharmacological strategies to address these symptoms are discussed. Read More

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Dose-response assessment of cerebral P-glycoprotein inhibition in vivo with [F]MC225 and PET.

J Control Release 2022 May 20;347:500-507. Epub 2022 May 20.

Department of Nuclear Medicine and Molecular Imaging, University of Groningen, University Medical Center Groningen, Hanzeplein 1, P.O. Box 30001, 9713 GZ Groningen, the Netherlands. Electronic address:

The Blood-Brain Barrier P-glycoprotein (P-gp) function can be altered in several neurodegenerative diseases and due to the administration of different drugs which may cause alterations in drug concentrations and consequently lead to a reduced effectiveness or increased side-effects. The novel PET radiotracer [F]MC225 is a weak P-gp substrate that may show higher sensitivity to detect small changes in P-gp function than previously developed radiotracers. This study explores the sensitivity of [F]MC225 to measure the dose-dependent effect of P-gp inhibitor tariquidar. Read More

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The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis.

Epilepsy Behav 2022 May 16;132:108711. Epub 2022 May 16.

Omakase Consulting S.L., Barcelona, Spain. Electronic address:

Introduction: Dravet Syndrome (DS) is a severe, developmental epileptic encephalopathy (DEE) that begins in infancy and is characterized by pharmaco-resistant epilepsy and neurodevelopmental delay. Despite available antiseizure medications (ASMs), there is a need for new therapeutic options with greater efficacy in reducing seizure frequency and with adequate safety and tolerability profiles. Fenfluramine is a new ASM for the treatment of seizures associated with DS as add-on therapy to other ASMs for patients aged 2 years and older. Read More

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Bilirubin Encephalopathy.

Curr Neurol Neurosci Rep 2022 May 19. Epub 2022 May 19.

Department of Neurology and Rehabilitation, University of Illinois at Chicago College of Medicine, 912 S Wood St, Chicago, IL, 60612, USA.

Purpose Of Review: Hyperbilirubinemia is commonly seen in neonates. Though hyperbilirubinemia is typically asymptomatic, severe elevation of bilirubin levels can lead to acute bilirubin encephalopathy and progress to kernicterus spectrum disorder, a chronic condition characterized by hearing loss, extrapyramidal dysfunction, ophthalmoplegia, and enamel hypoplasia. Epidemiological data show that the implementation of universal pre-discharge bilirubin screening programs has reduced the rates of hyperbilirubinemia-associated complications. Read More

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Radiological correlation of mechanism of intravascular migration of the ventriculoperitoneal shunt and technical considerations for endovascular retrieval.

J Radiol Case Rep 2022 Jan 1;16(1):22-29. Epub 2022 Jan 1.

Department of Radiology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Migration of ventriculoperitoneal shunt into the pulmonary artery is a rare complication that can lead to shunt malfunction and cardiopulmonary complications. This case illustrates the significance of accidental transvenous placement of the shunt. Identification of the transvenous course of the catheter on cross sectional imaging can predict future catheter migration and also aid at surgical extraction. Read More

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January 2022

An Unusual Case of Stroke as the Initial Manifestation of Early Takayasu Arteritis with Normal Erythrocyte Sedimentation Rate (ESR): Diagnosis and Treatment.

Am J Case Rep 2022 May 19;23:e936321. Epub 2022 May 19.

Department of Neurology, National Neuroscience Institute, Singapore, Singapore.

BACKGROUND Takayasu arteritis is a rare systemic inflammatory vasculitis of granulomatous nature. The etiology of Takayasu arteritis is still unknown and it affects the aorta and its main branches. Takayasu arteritis is more common in Asians and women of childbearing age. Read More

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Cognitive disorder and dementia in type 2 diabetes mellitus.

World J Diabetes 2022 Apr;13(4):319-337

Department of Philosophical and Methodological Disciplines, University Health Sciences Center, University of Guadalajara, Guadalajara 44340, Jalisco, Mexico.

Insulin, a key pleiotropic hormone, regulates metabolism through several signaling pathways in target tissues including skeletal muscle, liver, and brain. In the brain, insulin modulates learning and memory, and impaired insulin signaling is associated with metabolic dysregulation and neurodegenerative diseases. At the receptor level, in aging and Alzheimer's disease (AD) models, the amount of insulin receptors and their functions are decreased. Read More

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Predictors of mortality at 28-days in infection associated acute kidney injury in cirrhosis.

World J Hepatol 2022 Mar;14(3):592-601

Independent Researcher, Kangra 176056, Himachal Pradesh, India.

Background: Acute kidney injury (AKI) in cirrhosis is important complication with poor outcomes. And infections are common cause for acute decompensation. Infections in cirrhosis lead to acute deterioration of hemodynamics leading to precipitation of AKI. Read More

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Between commitment and avoidance - working age stroke survivors' perceptions of physical activity and sedentary behaviour: a qualitative study.

BMC Neurol 2022 May 17;22(1):183. Epub 2022 May 17.

Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, SE-141 83 Huddinge, Stockholm, Sweden.

Background: It is critical for stroke survivors in working age to develop skills and confidence for long-term self-management of physical activity and exercise training to maintain a healthy lifestyle and decrease the risk of recurrent stroke and other cardiovascular diseases. Still, knowledge is scarce about concerns and experiences of physical activity and sedentary behaviour after stroke in working age, and further qualitative studies are required. The aim of this study was to explore and describe perceptions of physical activity and sedentary behaviour in stroke survivors under 65 years who are living with disability. Read More

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