Publications by authors named "U Schatz"
Article Synopsis
- Yellow Nail Syndrome (YNS) is a rare condition marked by yellow, malformed nails, swelling due to lymphedema, and chronic lung issues, typically presenting in adulthood, with potential genetic links suggested.
- Researchers conducted genetic sequencing and expression studies on 11 patients (6 with congenital YNS and 5 with sporadic YNS) to investigate its underlying causes.
- Findings revealed biallelic variants in genes related to the Wnt/planar cell polarity pathway in congenital cases, indicating that defects in cellular organization could be key to understanding YNS's development, though the study's small sample size is a limitation.
Article Synopsis
- The German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) has established a system for monitoring women at high risk for breast cancer, recommending annual screenings using the BOADICEA risk model for those with a 10-year risk of 5% or more.
- Women with a family history of breast cancer may qualify for increased surveillance as they age, even if their initial risk doesn’t meet the threshold.
- Two methods were compared for determining when a woman's risk increases: the 'prediction by aging pedigree' (AP) which tracks family history over time, and a simpler 'conditional probability' (CP) approach, which estimates future risks based on initial assessments; the CP method was found to be
Purpose: Rapidly expanding medical literature challenges oncologists seeking targeted cancer therapies. General-purpose large language models (LLMs) lack domain-specific knowledge, limiting their clinical utility. This study introduces the LLM system Medical Evidence Retrieval and Data Integration for Tailored Healthcare (MEREDITH), designed to support treatment recommendations in precision oncology.
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- GTPases from the Rab family play a crucial role in membrane trafficking, and issues with these proteins have been linked to various neurological disorders, particularly involving RAB11A variants causing developmental and epileptic encephalopathy.
- The study examined 16 patients with RAB11A variants, mostly de novo heterozygous missense mutations, finding that these variants are associated with intellectual disability, developmental delays, and a range of other physical and neurological symptoms.
- The research suggests that while epilepsy is less common and less severe in patients with binding site mutations, the RAB11A neurodevelopmental disorder can affect multiple body systems, including gait, muscle tone, brain structure, and even fat distribution.
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify as a new gene implicated in PD and childhood neurodegeneration.
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