Publications by authors named "D H Glaeser"
Background: Anxiety and depressive symptoms are commonly reported to have a high prevalence in advanced cancer patients. However, whether the severity of the symptoms change during a stay in a palliative care unit (PCU) and after discharge home has not been studied thus far. This prospective, longitudinal, single-center study screened for anxiety and depression as measured on the German version of Hospital Anxiety and Depression Scale (HADS-D) in a palliative care (PC) cancer cohort at three different time points.
View Article and Find Full Text PDFMPV17 encodes a putative channel-forming protein of the inner mitochondrial membrane and is involved in mitochondrial deoxynucleotide homeostasis. MPV17 mutations were first reported in patients with Navajo neurohepatopathy, an autosomal recessive mitochondrial DNA depletion syndrome, characterized by early-onset liver failure, failure to thrive as well as central and peripheral neurological involvement. Recently, two patients with juvenile-onset peripheral sensorimotor neuropathy associated with an MVP17 c.
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- The study focused on understanding the neurodevelopmental effects of SYNGAP1 mutations and how these genetic changes relate to clinical symptoms in patients.
- Researchers analyzed genetic data from 251 patients with neurodevelopmental disorders and identified 17 individuals with unique SYNGAP1 mutations, with developmental delays and various neurological symptoms being common.
- The findings suggest that SYNGAP1-related encephalopathy typically presents with early developmental delays followed by epilepsy, which often includes generalized seizures, and that the severity of epilepsy does not directly correlate with behavioral issues or cognitive impairments.
Different mutations occurring in the unstable CGG repeat in 5' untranslated region of FMR1 gene are responsible for three fragile X-associated disorders. An expansion of over ∼200 CGG repeats when associated with abnormal methylation and inactivation of the promoter is the mutation termed 'full mutation' and is responsible for fragile X syndrome (FXS), a neurodevelopmental disorder described as the most common cause of inherited intellectual impairment. The term 'abnormal methylation' is used here to distinguish the DNA methylation induced by the expanded repeat from the 'normal methylation' occurring on the inactive X chromosomes in females with normal, premutation, and full mutation alleles.
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