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GM1 Gangliosidosis-A Mini-Review.
Front Genet
September 2021
Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust, Salford, United Kingdom.
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing glycoconjugates including the glycosphingolipid (GSL) GM1-ganglioside in neuronal tissue. GM1-gangliosidosis is classified into three forms [Type I (infantile), Type II (late-infantile and juvenile), and Type III (adult)], based on the age of onset of clinical symptoms, although the disorder is really a continuum that correlates only partially with the levels of residual enzyme activity.
View Article and Find Full Text PDF[Neurological disorders in preterm children with neuropathy].
Zh Nevrol Psikhiatr Im S S Korsakova
April 2019
Russian Medical Academy for Continuing Professional Education, Moscow, Russia; Perinatal Center of the City Clinical Hospital #24, Moscow, Russia.
Aim: To establish the correlation between the frequency and severity of hypoxic CNS lesions in preterm children with neuropathy and improve the early diagnosis of lesions of the brain structures based on clinical ophthalmologic results.
Material And Methods: The authors examined 712 premature infants with body mass <1500 g born before 30 weeks of gestation during 2006-2016. Ophthalmological monitoring of retinopathy (RP), an analysis of medical history, neurological examination and neurosonography were performed.
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
Expert Opin Orphan Drugs
April 2015
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Introduction: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation of sialo-glycoproteins, and accumulation of oversialylated metabolites. Sialidosis is considered an orphan disorder for which no therapy is currently available.
View Article and Find Full Text PDFThe cerebello-hypothalamic-pituitary-adrenal axis dysregulation hypothesis in depressive disorder.
Med Hypotheses
December 2012
Experimental Psychology, Helmholtz Institute, Utrecht University, Utrecht, The Netherlands.
Depressive disorder can be viewed as an adaptive defense mechanism in response to excessive stress that has gone awry. The hypothalamic-pituitary-adrenal (HPA) axis is an important node in the brain's stress circuit and suggested to play a role in several subtypes of depression. While the hippocampus, amygdala and prefrontal cortex are considered important regions implicated in stress regulation and depressive disorder, the existence of reciprocal monosynaptic cerebello-hypothalamic connections and the presence of dense glucocorticoid binding sites point towards the view that the cerebellum plays a functional role in the regulation of HPA-axis as well.
View Article and Find Full Text PDFClinical syndromes, personality disorders, and neurocognitive differences in male and female inmates.
Behav Sci Law
January 2012
Department of Psychology, University of Colorado at Colorado Springs, USA.
This study examined clinical syndromes, personality disorders, and neurocognitive problems in adult male (n = 523) and female inmates (n = 523) and a sample of unincarcerated adult women (n = 523). Inmates were administered the Coolidge Correctional Inventory (CCI), and the unincarcerated sample was given an identical test, the Coolidge Axis II Inventory. Although there were significant differences between the two inmate groups on a majority of the 32 CCI scales, only two scales achieved a medium effect size.
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