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(Natural News) Little Cole Hartman was dealt a bad hand right from the beginning. Born with fragile X syndrome, he had both physical and mental disabilities. When his mom died while he was just a toddler, he was adopted by Jeremy Hartman and his wife Elizabeth. Then, when he was just 8 years old, his...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news

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Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Abstract Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by silence of the fmr1 gene and the deficiency of Fragile X mental retardation protein (FMRP). Patients present neuronal alterations that lead to severe intellectual disability and altered sleep rhythms. However, the neural circuit mechanisms underlying FXS remain unclear. Previous studies have suggested that metabolic glutamate and gamma-aminobutyric acid (GABA) receptors/circuits are two counter-balanced factors involved in FXS pathophysiology. More and more studies demonstrated that attenuated GABAergic circuits in the absence...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
AbstractThe child with global developmental delay (GDD)/intellectual disability (ID) is deserving of the appropriate evaluation available for improving the health and well ‐being of patients and their families. To better elucidate the diagnostic approach of genetic tests for patients with GDD and/or ID, we evaluated the results in a cohort of 75 patients with clinical features of GDD and/or ID who were referred for diagnostic workup. A total of 75 children were inve stigated for GDD or ID in the pediatric neurology department. Ten patients (13%, 10/75) with a clinically recognizable syndrome were diagnosed by single‐ge...
Source: Annals of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
In conclusion, adolescents and young adults with FXS demonstrate neuroanatomical abnormalities consistent with those previously reported in children and adults with FXS. These brain variations likely result from reduced FMRP during early neurodevelopment and mediate downstream deleterious effects on cognitive function.
Source: Journal of Psychiatric Research - Category: Psychiatry Source Type: research
Abstract Fragile X syndrome (FXS) is the most frequent inherited form of intellectual disability and autism spectrum disorder. Loss of the fragile X mental retardation protein, FMRP, engenders molecular, behavioral, and cognitive deficits in FXS patients. Experiments using different animal models advanced our knowledge of the pathophysiology of FXS and led to the discovery of many targets for drug treatments. In this review, we discuss the potential of metformin, an antidiabetic drug approved by the US Food and Drug Administration, to correct core symptoms of FXS and other neurological disorders in humans. We summ...
Source: Annual Review of Medicine - Category: General Medicine Authors: Tags: Annu Rev Med Source Type: research
A small isolated town in Colombia is home to a large cluster of people with fragile X syndrome —a genetic disorder that leads to intellectual disability, physical abnormalities, and sometimes autism. Spectrum staff reporter Hannah Furfaro joins host Sarah Crespi to discuss the history of fragile X in the town of Ricaurte and the future of the people who live there. Also this week, we talk about greening up grass. Lawns of green grass pervade urban areas all around the world, regardless of climate, but the cost of maintaining them may outweigh their benefits. Host Meagan Cantwell talks with Maria Ignatieva of The Uni...
Source: Science Magazine Podcast - Category: Science Authors: Tags: Scientific Community Source Type: podcasts
Fragile X syndrome (FXS) is the most frequent form of heritable intellectual disability and autism. Fragile X (Fmr1-KO) mice exhibit aberrant dendritic spine structure, synaptic plasticity, and cognition. Autophagy is a catabolic process of programmed degradation and recycling of proteins and cellular components via the lysosomal pathway. However, a role...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research
AbstractWe further extended the use of microswitch-cluster technology for promoting occupational activities and reducing hand biting of six adolescents with fragile X syndrome and severe to profound developmental disabilities. The primary rehabilitative goal was to enhance the adaptive response (i.e., inserting three different objects in the three containers within a 4  s time interval). The secondary objective was to evaluate the effects of the intervention on indices of positive participation as outcome measure of the participants ‘quality of life. Finally, a social validation assessment involving sixty-six ex...
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research
Introduction: Fragile X Syndrome (FXS) is the leading form of inherited intellectual disability and autism spectrum disorder, caused by a tri-nucleotide CGG repeat expansion in the promoter region of the FMR1 gene [1]. The cognitive profile in FXS includes deficits in executive control and in visuospatial abilities, as well as in language and severe behavioural alterations with hyperactivity, impulsivity, anxiety: the condition often is associated with medical comorbidities among which epilepsy [1].
Source: Gait and Posture - Category: Orthopaedics Authors: Source Type: research
ConclusionsEE is a parental feature that is possible to modulate and seems to be related to behavior problems in ID individuals. More research should be carried on to create interventions to reduce this attitude in parents of ID individuals.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
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