Autopsy-confirmed findings linked diagnostic errors, co-pathology, and genetic variation to distinct pathologic patterns across more than 3,300 donors with Parkinsonian disorders.
Teriparatide followed by zoledronic acid increased bone mineral density but did not reduce fracture risk compared with standard care in adults with osteogenesis imperfecta.
FOXC1 duplications were the second most common monogenic finding among genetically solved juvenile open-angle glaucoma cases in one registry, supporting the use of copy-number variant analysis in early-onset glaucoma testing.
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A gene variant that raises GLP-1 levels somehow makes GLP-1 drugs work worse. Plus: why your nose might still recover two years out, and what urine might eventually tell us about schizophrenia.
Three amino acid metabolism genes showed diagnostic signal in testicular tissue, though small sample sizes and computational methods limit clinical translation.
Genetically predicted urinary metabolite levels were associated with schizophrenia, bipolar disorder, attention-deficit/hyperactivity disorder, and anorexia nervosa in a Mendelian randomization analysis.