keyword
https://read.qxmd.com/read/38545268/neurometabolism-and-brain-morphometry-in-an-adolescent-female-with-an-extra-hepatic-congenital-portosystemic-shunt
#1
JOURNAL ARTICLE
Isaline Chabbey, Cristina Cudalbu, Eugénie Barras, Sylviane Hanquinet, Bénédicte Maréchal, Anne-Laure Rougemont, Julie Wacker, Florence Zangas-Gheri, Valérie A McLin
BACKGROUND: Chronic hepatic encephalopathy (CHE) has been reported both in patients with congenital porto-systemic shunts (CPSS) and chronic liver disease. CHE is difficult to recognize in children as there is no clear definition and its manifestations are highly variable. CHE is associated with variations in brain volumes and metabolites that have already been demonstrated using 1.5-3T MRI systems. However, the in-depth study of brain metabolism requires the high spectral resolution of high magnetic fields...
February 2024: JPGN reports
https://read.qxmd.com/read/38540369/clinical-and-genetic-aspects-of-juvenile-amyotrophic-lateral-sclerosis-a-promising-era-emerges
#2
REVIEW
Paulo Victor Sgobbi de Souza, Paulo de Lima Serrano, Igor Braga Farias, Roberta Ismael Lacerda Machado, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Vinícius Lopes Braga, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap...
February 28, 2024: Genes
https://read.qxmd.com/read/38529862/-neurometabolic-therapy-of-mild-cognitive-impairment-in-patients-with-chronic-cerebral-ischemia
#3
JOURNAL ARTICLE
E A Antipenko, A V Shulyndin, K M Belyakov
OBJECTIVE: To evaluate the effect of a sequential therapy regimen with Mexidol (500 mg injections intravenously for 14 days) and Mexidol FORTE 250 (250 mg tablets 3 times a day for 60 days) on higher cortical functions in patients with moderate cognitive disorders in chronic cerebral ischemia. MATERIAL AND METHODS: A comparative, prospective study included 63 patients with chronic cerebral ischemia with moderate cognitive impairment. All patients received basic therapy aimed at reducing risk factors (antihypertensive, antithrombotic drugs as indicated)...
2024: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/38521366/hippocampal-neurometabolic-and-structural-changes-from-pre-to-post-covid-19-a-case-series-study
#4
JOURNAL ARTICLE
Wouter A J Vints, Kristina Valatkevičienė, Oron Levin, Akila Weerasekera, Simonas Jesmanas, Simona Kušleikienė, Vida J Česnaitienė, Uwe Himmelreich, Jeanine A Verbunt, Eva-Maria Ratai, Rymantė Gleiznienė, Nerijus Masiulis
BACKGROUND: Neurological complications of the COVID-19 infection may be caused in part by local neurochemical and structural abnormalities that could not be detected during routine medical examinations. We examined within subject neurometabolic and structural brain alterations from pre-to post-COVID-19 in the hippocampal region of three elderly individuals (aged 63-68 years) who had a COVID-19 infection with mild symptoms. Patients were participating in an interventional study in which they were closely monitored at the time they were diagnosed with COVID-19...
March 21, 2024: Magnetic Resonance Imaging
https://read.qxmd.com/read/38520741/pah-deficient-pathology-in-humanized-c-1066-11g-a-phenylketonuria-mice
#5
JOURNAL ARTICLE
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes R Desviat
We have generated using CRISPR/Cas9 technology a partially humanized mouse model of the neurometabolic disease phenylketonuria (PKU), carrying the highly prevalent PAH variant c.1066-11G>A. This variant creates an alternative 3' splice site, leading to the inclusion of 9 nucleotides coding for 3 extra amino acids between Q355 and Y356 of the protein. Homozygous Pah c.1066-11A mice, with a partially humanized intron 10 sequence with the variant, accurately recapitulate the splicing defect and present almost undetectable hepatic PAH activity...
March 23, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38501627/paediatric-symptomatic-seizures-in-india-unravelling-varied-etiologies-and-neuroimaging-patterns-a-multicentric-study
#6
JOURNAL ARTICLE
J Baradwaj, R Balaji, A Kumar, L Kannan, D Nayak
Pediatric neuroimaging presents a unique set of challenges, primarily stemming from the intricacies of normal myelination processes occurring within the initial two years of life. This complexity is particularly pronounced in the context of pediatric epilepsy, where a substantial proportion of neuroimaging cases appears normal, especially in instances of idiopathic or provoked seizures. Nevertheless, abnormalities in neuroimaging tend to manifest in cases of acute or remote symptomatic seizures. Notably, the etiological landscape of seizures in children diverges significantly from that observed in adults, with neurodevelopmental, neurometabolic, and neuro-infectious factors emerging as predominant contributors...
January 2024: Georgian Medical News
https://read.qxmd.com/read/38469086/long-term-follow-up-in-gamt-deficiency-correlation-of-therapy-regimen-biochemical-and-in-vivo-brain-proton-mr-spectroscopy-data
#7
JOURNAL ARTICLE
Lara M Marten, Ralph Krätzner, Gajja S Salomons, Matilde Fernandez Ojeda, Peter Dechent, Jutta Gärtner, Peter Huppke, Steffi Dreha-Kulaczewski
GAMT deficiency is a rare autosomal recessive disease within the group of cerebral creatine deficiency syndromes. Cerebral creatine depletion and accumulation of guanidinoacetate (GAA) lead to clinical presentation with intellectual disability, seizures, speech disturbances and movement disorders. Treatment consists of daily creatine supplementation to increase cerebral creatine, reduction of arginine intake and supplementation of ornithine for reduction of toxic GAA levels. This study represents the first long-term follow-up over a period of 14 years, with detailed clinical data, biochemical and multimodal neuroimaging findings...
March 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38464914/l-2-hydroxyglutaric-aciduria-report-of-a-mexican-mayan-patient-with-the-mutation-c-569c-t-and-response-to-vitamin-supplements-and-levocarnitine
#8
Roberto Leal-Ortega, Luis Enrique Parra-Medina, Lizbeth Josefina González-Herrera
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the L2HGDH gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. Here, we report a case of L2HGA in a Mexican-Mayan patient with a homozygous mutation at L2HGDH gene and clinical response to vitamin supplements and levocarnitine. CASE REPORT: A 17-year-old, right-handed female patient with long-term history of seizures, developmental delay and ataxia was referred to a movement disorders specialist for the evaluation of tremor...
2024: Tremor and Other Hyperkinetic Movements
https://read.qxmd.com/read/38457964/multi-modal-neuroimaging-reveals-differences-in-alcohol-cue-reactivity-but-not-neurometabolite-concentrations-in-adolescents-who-drink-alcohol
#9
JOURNAL ARTICLE
Anna E Kirkland, ReJoyce Green, Brittney D Browning, Stephanie Aghamoosa, Dieter J Meyerhoff, Pamela L Ferguson, Rachel L Tomko, Kevin M Gray, Lindsay M Squeglia
BACKGROUND: The objective of this multi-modal neuroimaging study was to identify neuroscience-informed treatment targets for adolescent alcohol use disorder (AUD) by examining potential neural alterations associated with adolescent alcohol use. METHODS: Adolescents (ages 17-19) who heavily used (n=49) or did not use alcohol (n=22) were recruited for a multi-modal neuroimaging protocol, including proton magnetic resonance spectroscopy within the dorsal anterior cingulate cortex (dACC) and an fMRI alcohol cue-reactivity task...
March 2, 2024: Drug and Alcohol Dependence
https://read.qxmd.com/read/38445077/distinct-neonatal-hyperammonemia-and-liver-synthesis-dysfunction-case-report-of-a-severe-megdhel-syndrome
#10
Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D Schlieben, Dominic Lenz, Eva Tschiedel
BACKGROUND/PURPOSE: MEGDHEL syndrome is a rare autosomal recessive metabolic disorder, which is characterized by 3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy and Leigh-like syndrome. It is caused by biallelic pathogenic variants in the SERAC1 gene. Due to the unspecific symptoms and the diverse manifestations of the clinical phenotype, the diagnosis is challenging. Infantile MEGDHEL syndrome often has a severe disease course with acute liver failure...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38444578/5-10-methenyltetrahydrofolate-synthetase-deficiency-an-extreme-rare-defect-of-folate-metabolism-in-two-dutch-siblings
#11
Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie-Claire de Wit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J Blom
Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10-methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous MTHFS variant NM_006441.3( MTHFS ):c.434G > A, p.Arg145Gin, which has been described before. At baseline, both patients showed moderate hyperhomocysteinemia, decreased 5-methyltetrahydrofolate (5MTHF), and increased 5-formyltetrahydrofolate (5-FTHF) in whole blood. In CSF, 5MTHF levels were in the low-normal range and 5-FTHF was strongly increased...
March 2024: JIMD Reports
https://read.qxmd.com/read/38434271/assessment-of-sepsis-associated-encephalopathy-by-quantitative-magnetic-resonance-spectroscopy-in-a-rat-model-of-cecal-ligation-and-puncture
#12
JOURNAL ARTICLE
Siqi Liu, Zhifeng Liu, Gongfa Wu, Haoyi Ye, Zhihua Wu, Zhengfei Yang, Shanping Jiang
Proton magnetic resonance spectroscopy (1H-MRS) is the only non-invasive technique to quantify neurometabolic compounds in the living brain. We used 1H-MRS to evaluate the brain metabolites in a rat model of Sepsis-associated encephalopathy (SAE) established by cecal ligation and puncture (CLP). 36 male Sprague-Dawley rats were randomly divided into sham and CLP groups. Each group was further divided into three subgroups: subgroup O, subgroup M, and subgroup N. Neurological function assessments were performed on the animals in the subgroup O and subgroup N at 24 h, 48 h, and 72 h...
March 15, 2024: Heliyon
https://read.qxmd.com/read/38428323/assessment-of-cardiovascular-functioning-following-sport-related-concussion-a-physiological-perspective
#13
JOURNAL ARTICLE
Chase J Ellingson, M Abdullah Shafiq, Cody A Ellingson, J Patrick Neary, Payam Dehghani, Jyotpal Singh
There is still much uncertainty surrounding the approach to diagnosing and managing a sport-related concussion (SRC). Neurobiological recovery may extend beyond clinical recovery following SRC, highlighting the need for objective physiological parameters to guide diagnosis and management. With an increased understanding of the connection between the heart and the brain, the utility of assessing cardiovascular functioning following SRC has gained attention. As such, this review focuses on the assessment of cardiovascular parameters in the context of SRC...
February 24, 2024: Autonomic Neuroscience: Basic & Clinical
https://read.qxmd.com/read/38427142/an-exploratory-investigation-of-the-csf-metabolic-profile-of-hiv-in-a-south-african-paediatric-cohort-using-gcxgc-tof-ms
#14
JOURNAL ARTICLE
Anicia Thirion, Du Toit Loots, Monray E Williams, Regan Solomons, Shayne Mason
INTRODUCTION:  Because cerebrospinal fluid (CSF) samples are difficult to obtain for paediatric HIV, few studies have attempted to profile neurometabolic dysregulation. AIM AND OBJECTIVE: The aim of this exploratory study was to profile the neurometabolic state of CSF from a South African paediatric cohort using GCxGC-TOF/MS. The study included 54 paediatric cases (< 12 years), 42 HIV-negative controls and 12 HIV-positive individuals. RESULTS: The results revealed distinct metabolic alterations in the HIV-infected cohort...
March 1, 2024: Metabolomics: Official Journal of the Metabolomic Society
https://read.qxmd.com/read/38423165/neurometabolic-and-brain-functional-alterations-associated-with-cognitive-impairment-in-patients-with-myasthenia-gravis-a-combined-1-h-mrs-and-fmri-study
#15
JOURNAL ARTICLE
Xiaoling Zhou, Yang Yang, Feng Zhu, Xiang Chen, Yunfei Zhu, Tiantian Gui, Yonggang Li, Qun Xue
Whether patients with myasthenia gravis (MG) exhibit cognitive impairment is controversial. Also the underlying mechanisms are unknown. We aimed to investigate alterations in cognitive function, neurometabolite levels, and brain function in patients with MG and to explore the associations between abnormal regional brain functional activity, neurometabolite concentrations in the MPFC and left thalamus, and cognitive activity in patients with MG. Neuropsychological tests, proton magnetic resonance spectroscopy, and resting-state functional magnetic resonance imaging were performed on 41 patients with MG and 45 race-, sex-, age-, and education-matched healthy controls (HCs)...
February 27, 2024: Neuroscience
https://read.qxmd.com/read/38419707/long-term-follow-up-of-an-attenuated-presentation-of-naxe-related-disease-a-potentially-actionable-neurometabolic-disease-a-case-report
#16
Montaha Almudhry, Chitra Prasad, C Anthony Rupar, Keng Yeow Tay, Asuri N Prasad
BACKGROUND: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase ( NAXE ) gene mutations underpin this disorder. This mutation damages the metabolite repair system involved in regenerating crucial redox carriers. Longer survival has rarely been reported in this potentially actionable entity. OBJECTIVES: This case study aims to report a milder phenotype of a patient with NAXE gene mutation and his longitudinal follow-up of more than 20 years...
2024: Frontiers in Neurology
https://read.qxmd.com/read/38383420/the-covid-19-pandemic-impact-on-continuity-of-care-provision-on-rare-brain-diseases-and-on-ataxias-dystonia-and-pku-a-scoping-review
#17
REVIEW
Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja, Giuseppe Turchetti
One of the most relevant challenges for healthcare providers during the COVID- 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID-19 pandemic accelerated the healthcare sector's digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded and, many healthcare services not directly related to COVID-19 treatments shifted online remotely. Many hospitals, specialist centres, patients and families started to use telemedicine because they were forced to...
February 21, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38341414/elevating-the-field-for-applying-neuroimaging-to-individual-patients-in-psychiatry
#18
REVIEW
David R Roalf, Martijn Figee, Desmond J Oathes
Although neuroimaging has been widely applied in psychiatry, much of the exuberance in decades past has been tempered by failed replications and a lack of definitive evidence to support the utility of imaging to inform clinical decisions. There are multiple promising ways forward to demonstrate the relevance of neuroimaging for psychiatry at the individual patient level. Ultra-high field magnetic resonance imaging is developing as a sensitive measure of neurometabolic processes of particular relevance that holds promise as a new way to characterize patient abnormalities as well as variability in response to treatment...
February 10, 2024: Translational Psychiatry
https://read.qxmd.com/read/38331924/longitudinal-changes-in-brain-metabolites-following-pediatric-concussion
#19
JOURNAL ARTICLE
Parker L La, Robyn Walker, Tiffany K Bell, William Craig, Quynh Doan, Miriam H Beauchamp, Roger Zemek, Keith Owen Yeates, Ashley D Harris
Concussion is commonly characterized by a cascade of neurometabolic changes following injury. Magnetic Resonance Spectroscopy (MRS) can be used to quantify neurometabolites non-invasively. Longitudinal changes in neurometabolites have rarely been studied in pediatric concussion, and fewer studies consider symptoms. This study examines longitudinal changes of neurometabolites in pediatric concussion and associations between neurometabolites and symptom burden. Participants who presented with concussion or orthopedic injury (OI, comparison group) were recruited...
February 8, 2024: Scientific Reports
https://read.qxmd.com/read/38317675/epileptic-dyskinetic-encephalopathy-in-kbg-syndrome-expansion-of-the-phenotype
#20
Eoin P Donnellan, Kathleen M Gorman, Amre Shahwan, Nicholas M Allen
KBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene ( ANKRD11 ) responsible for KBG syndrome, wider phenotypes are emerging. While there is phenotypic variability within many features of KBG syndrome, epilepsy is not usually markedly severe and movement disorders largely undocumented. Here we describe a novel early onset phenotype of dyskinetic epileptic encephalopathy in a male, who presented during infancy with a florid hyperkinetic movement disorder and developmental regression...
2024: Epilepsy & behavior reports
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