Publications by authors named "C D Gooch"
Metabolic bone diseases are a heterogenous group of conditions that all result in aberrant bone mineral homeostasis with resulting skeletal disease. The underlying causes are variable, ranging from nutritional deficiencies to pathogenic variants in skeletal genes. To properly diagnose and treat these conditions, a clinician needs to understand bone metabolism as well as recognize the signs of disease in a patient.
View Article and Find Full Text PDFService lines are increasingly common for organizing multidisciplinary patient care. Concerns regarding impacts of neuroscience service lines were voiced at several national neurology department chair summits, prompting the American Academy of Neurology to convene a Service Lines Workgroup. Neurology department leaders nationally at institutions that had created or considered a neuroscience service line were interviewed to elicit their experiences and lessons learned.
View Article and Find Full Text PDFSearches for new physics below twice the electron mass with GERDA.
Eur Phys J C Part Fields
September 2024
Article Synopsis
- A search for dark matter candidates in the mass range of 65 to 1021 keV was conducted using data from the GERDA experiment, focusing on energy depositions without detecting any significant signals above background noise.
- The study established stringent exclusion limits on dark photon and axion-like particle interactions with electrons, with specific constraints noted at a 150 keV mass level.
- Additional investigations into the decay rates of nucleons and electrons yielded lower lifetime limits for neutron, proton, and electron decay events at a 90% confidence interval.
Article Synopsis
- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and