Publications by authors named "C F Mathey"
Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal.
Am J Med Genet B Neuropsychiatr Genet
October 2024
Article Synopsis
- Duplications of a specific region on the X chromosome known as Xq28,distal have been linked to schizophrenia (SCZ) and intellectual disability in both males and females, though the exact genes involved remain unclear.
- This study aimed to explore rare genetic variants in the Xq28,distal locus and how they might contribute to SCZ risk, using advanced sequencing methods on a large sample of patients and controls.
- Despite identifying some potentially functional variants, the analysis did not find a significant difference between patients with SCZ and controls, suggesting that more research is needed to understand the role of X-chromosomal factors in neuropsychiatric disorders.
Article Synopsis
- Primary bone lymphoma of the spine (PBL) is a rare condition that can be misdiagnosed due to its similarities with infections and other diseases.
- The case involves a woman in her sixties with chronic low back pain and cruralgia, leading to various imaging tests that suggested spondylodiscitis but ultimately identified aggressive diffuse large B-cell lymphoma.
- This case emphasizes the challenges in diagnosing PBL, as both PBL and infections display similar symptoms and imaging characteristics, making accurate differentiation essential for proper treatment.
Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.
J Allergy Clin Immunol
April 2024
Article Synopsis
- Angioedema is a serious reaction linked to ACE inhibitors, and its causes include genetic and non-genetic factors; recent studies have begun to uncover genetic risk factors but not the full underlying mechanisms.!* -
- Researchers analyzed data from over 1,000 European patients, discovering three significant genetic risk loci associated with ACEi-induced angioedema, one of which has not been previously noted.!* -
- The findings underscored the role of bradykinin signaling and coagulation pathways while suggesting new genetic candidates involved in angioedema, highlighting similar genetic effects in both European and African-American patients.!*
Evaluation of chronic diarrhea in patients newly diagnosed with HIV infection through the FilmArray® gastrointestinal panel.
Rev Gastroenterol Mex (Engl Ed)
April 2024
Article Synopsis
- * Out of 24 patients tested, 69% had bacterial infections, 18% had parasites, and 13% had viral infections, with common pathogens including different types of E. coli and Giardia lamblia.
- * The research highlighted that multiple infectious agents can be detected at once in HIV patients with chronic diarrhea, but certain agents like tuberculosis and fungi were not identified by the FilmArray® method.