Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene submitted by ktimp 8 months ago Several unrelated disorders can lead to 5-methyltetrahydrofolate (5MTHF) depletion in the cerobrospinal fluid (CSF), including primary genetic disorders in folate-related pathways or those causing defective transport across the blood-CSF barrier. We report a case of cerebral folate transport defi... 0 Comments - Bury   Topic: Health

Kinesigenic Dyskinesia in a Case of Voltage-Gated Potassium Channel-Complex Protein Antibody Encephalitis submitted by ldrogaa 5 months ago To describe the first case (to our knowledge) of voltage-gated potassium channel–complex protein antibody encephalitis with kinesigenic dyskinesia and cramp-fasciculation syndrome.Design Case report.Setting Hospitalized care.Patient A 38-year-old man with a history of bronchial asthma, ecze... 0 Comments - Bury   Topic: Health

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency submitted by cheikwa 5 months ago To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction, accounts for various clinical presentations, including Leigh syndrome. Human complex I comprises seven core subunits encoded by mitochondria... 0 Comments - Bury   Topic: Biology

A case of congenital axonal neuropathy associated with West syndrome submitted by menhctyhoe 5 months ago We report the case of an 11-month-old girl with congenital axonal neuropathy and West syndrome. She had generalized hypotonia and an abnormal posture since birth, and apparently, her development was stalled. Deep tendon reflexes were absent, and at 5months of age, she developed West syndrome foll... 0 Comments - Bury   Topic: Health

Expected value and prediction error abnormalities in depression and schizophrenia submitted by reatardella 17 days ago The dopamine system has been linked to anhedonia in depression and both the positive and negative symptoms of schizophrenia, but it remains unclear how dopamine dysfunction could mechanistically relate to observed symptoms. There is considerable evidence that phasic dopamine signals encode predic... 0 Comments - Bury   Topic: Biology

Fetal Alcohol Spectrum Disorders: An Overview submitted by onceint3434 1 month ago When fetal alcohol syndrome (FAS) was initially described, diagnosis was based upon physical parameters including facial anomalies and growth retardation, with evidence of developmental delay or mental deficiency. Forty years of research has shown that FAS lies towards the extreme end of what are... 0 Comments - Bury   Topic: Health

White matter abnormalities in irritable bowel syndrome and relation to individual factors submitted by vejoykamor 2 months ago Patients with irritable bowel syndrome (IBS) have abnormal cortical responses to rectal distension and gray matter thinning in brain areas associated with nociception. These abnormalities may be driven by white matter changes and individual factors. Therefore, we tested the hypothesis that WM sub... 0 Comments - Bury   Topic: Health

Decreased Thymic Output Accounts for Decreased Naive T Cell Numbers in Children with Down Syndrome submitted by osefroshed 2 months ago Children with Down syndrome (DS) have low numbers of naive T cells and abnormal thymus development and function. Because next to thymic production, peripheral proliferation greatly contributes to naive T cell generation in healthy children, we examined the cause of reduced naive T cell numbers in... 0 Comments - Bury   Topic: Biology

Cerebral hemiatrophy associated with hippocampal sclerosis following a single prolonged febrile seizure submitted by orwol 2 months ago The etiological relation of prolonged febrile seizures with hippocampal sclerosis and cerebral hemiatrophy is controversial. Causal relationship is mainly adopted from retrospective statistical analysis and data from epilepsy surgery. We report a 17-month-old boy who had a prolonged febrile seizu... 0 Comments - Bury   Topic: Health

Diagnostic reliability of magnetic resonance imaging for central nervous system syndromes in systemic lupus erythematosus: a prospective cohort study submitted by bioagri 1 year and 4 months ago Previous studies of magnetic resonance imaging (MRI) as a diagnostic tool for central nervous system (CNS) syndromes in systemic lupus erythematosus (SLE) contained several limitations such as study design, number of enrolled patients, and definition of CNS syndromes. We overcame these problems a..