Search results for "brain diseases"
showing 10 items of 67 documents
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2021
Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidi…
False-positive I-131 whole-body imaging after I-131 therapy for a follicular carcinoma.
1997
A 57-year-old man was treated with ablative radioiodine therapy for follicular thyroid carcinoma. The post-therapeutic whole body scans detected radionuclide accumulation in the area of the right occiput at the site of a cranial defect. The defect was caused by trauma in 1964. Bone scintigraphy did not show increased uptake in this area. Magnetic resonance imaging showed porencephaly, but it did not show a metasasis.
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
2014
International audience; Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Given the similarity in clinical presentation in the two families, we hypothesized that the observed phenotype was due …
Circulating MicroRNAs in Extracellular Vesicles as Potential Biomarkers of Alcohol-Induced Neuroinflammation in Adolescence: Gender Differences
2020
Current studies evidence the role of miRNAs in extracellular vesicles (EVs) as key regulators of pathological processes, including neuroinflammation and neurodegeneration. As EVs can cross the blood&ndash
Association of human herpesvirus 6 and human herpesvirus 7 with demyelinating diseases of the nervous system.
2001
Peripheral blood mononuclear cells and plasma of 113 patients with neurological disorders and 150 blood donors were analyzed for HHV-6 and HHV-7 sequences by PCR. The prevalence of HHV-6 was significantly higher in patients with multiple sclerosis (P < 0.01) than in cases of nondemyelinating diseases of the central and demyelinating diseases of the peripheral nervous systems and blood donors. HHV-6 viremia was found only in patients with multiple sclerosis, predominantly in the active phase of the disease. A significantly higher frequency of HHV-7 reactivation in patients with demyelinating diseases of the peripheral nervous system suggests also its association with demyelinating processes.
Neuroimaging for the anesthesiologist.
2007
Neuroimaging is essential in the treatment of cerebral nervous system disorders or in patients in the ICU with deterioration of their neurologic function. Leading clinical symptoms are acute neurologic deficits with different stages of hemisymptomatology, primary or progressing loss of consciousness or vigilance deficit, focal or generalized seizures, sometimes combined with an acute respiratory or circulatory insufficiency. The resulting questions can be summarized in those of intracranial space occupying hemorrhage; acute infarction; and signs for reduced cerebral blood flow, cerebrovascular vasospasm, or intracranial mass. Recent evolutions in imaging have contributed to an increase in d…
Neural networks engaged in milliseconds and seconds time processing: evidence from transcranial magnetic stimulation and patients with cortical or su…
2009
Here, we review recent transcranial magnetic stimulation studies and investigations in patients with neurological disease such as Parkinson's disease and stroke, showing that the neural processing of time requires the activity of wide range-distributed brain networks. The neural activity of the cerebellum seems most crucial when subjects are required to quickly estimate the passage of brief intervals, and when time is computed in relation to precise salient events. Conversely, the circuits involving the striatum and the substantia nigra projecting to the prefrontal cortex (PFC) are mostly implicated in supra-second time intervals and when time is processed in conjunction with other cognitiv…
Neuropathology of neurometabolic diseases in children with epilepsy.
2011
Neurometabolic diseases are largely hereditary ones. They encompass lysosomal, peroxisomal, mitochondrial, and polyglucosan diseases as well as amino and organic acidemias/acidurias. Neuropathologically, the entire brain may be affected, i.e. pan-encephalopathy, the grey matter, preferentially being called polioencephalopathy or, when lesions might predominate in white matter, leukoencephalopathies/leukodystrophies. An important issue are extracerebral biopsies that facilitate or allow in vivo diagnosis and may be achieved by electron microscopy. Modern neuropathological techniques may retroactively be applied to archival tissues and those of modern mouse models.
Magnetic resonance imaging in infections of the brain: findings in tuberculosis, listeriosis, toxoplasmosis, subacute sclerosing panencephalitis, and…
1987
A total of 6 patients with various inflammatory brain diseases were investigated by MRI. Typical diagnostic criteria like signal intensity, location, and morphology of the lesions are presented. MRI proves to be a highly sensitive method to detect encephalitic foci, which, however, suffers from a low specificity. Therefore additional informations like case history, clinical findings, and serological data have to be considered to find the correct diagnosis.
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy
2021
Abstract Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition is linked to epilepsy. Gephyrin (Geph) is the principal scaffolding protein at inhibitory synapses and is essential for postsynaptic clustering of glycine (GlyRs) and GABA type A receptors. Consequently, gephyrin is crucial for maintaining the relationship between excitation and inhibition in normal brain function and mutations in the gephyrin gene (GPHN) are associated with neurodevelopmental disorders and epilepsy. We identified bi-allelic variants in the GPHN gene, namely the missense mutation c.1264G &gt; A and splice acceptor variant c.1315-2A &gt; G, in a patient wi…