Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.

Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and obtaining appropriate cancer surveillance and risk-reducing procedures. There is a lack of care provider knowledge about TGD health management. Lynch syndrome (LS) is one of the most common hereditary cancer syndromes, affecting an estimated 1 in 279 individuals. There are no clinical guidelines specific for TGD individuals with LS, highlighting a need to improve the quality of care for this population. There is an urgent need for cancer surveillance recommendations for TGD patients. This commentary provides recommendations for cancer surveillance, risk-reducing strategies, and genetic counseling considerations for TGD patients with LS.

Metabolomic Profiling in Neuromyelitis Optica Spectrum Disorder Biomarker Discovery.

There is no specific test for diagnosing neuromyelitis optica spectrum disorder (NMOSD), a disabling autoimmune disease of the central nervous system. Instead, diagnosis relies on ruling out other related disorders with overlapping clinical symptoms. An urgency for NMOSD biomarker discovery is underscored by adverse responses to treatment following misdiagnosis and poor prognosis following the delayed onset of treatment. Pathogenic autoantibiotics that target the water channel aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) contribute to NMOSD pathology. The importance of early diagnosis between AQP4-Ab+ NMOSD, MOG-Ab+ NMOSD, AQP4-Ab- MOG-Ab- NMOSD, and related disorders cannot be overemphasized. Here, we provide a comprehensive data collection and analysis of the currently known metabolomic perturbations and related proteomic outcomes of NMOSD. We highlight short chain fatty acids, lipoproteins, amino acids, and lactate as candidate diagnostic biomarkers. Although the application of metabolomic profiling to individual NMOSD patient care shows promise, more research is needed.

Kidney Function After the First Kidney Stone Event.

OBJECTIVE: To determine whether there is a persistent decline in kidney function after the first kidney stone event. PATIENT AND METHODS: Incident symptomatic stone formers and age- and sex-matched controls underwent 2 study visits 90 days apart to assess kidney function, complete a survey, and have their medical records reviewed. Kidney function was compared between stone formers and controls adjusting for clinical, blood, and urine risk factors. RESULTS: There were 384 stone formers and 457 controls. At visit 1, a median of 104 days after the stone event, stone formers compared with controls had similar serum creatinine (0.86 vs 0.84 mg/dL; P=.23), higher serum cystatin C (0.83 vs 0.72 mg/L; P<.001), higher urine protein (34.2 vs 19.7 mg/24 h; P<.001) levels, and were more likely to have albuminuria (24 h urine albumin >30 mg: 5.4% vs 2.2%; P=.02). Findings were similar after adjustment for risk factors and at visit 2, a median of 92 days after visit 1. In the 173 stone formers with serum creatinine levels from care before study participation, the mean serum creatinine level was 0.84 mg/dL before the stone event, increased to 0.97 mg/dL (P<.001) at the stone event, but returned to 0.85 mg/dL (P=.38) after the stone event (visit 1). CONCLUSIONS: Incident symptomatic stone formers have a rise in serum creatinine levels that resolves. However, stone formers have sustained higher cystatin C levels and proteinuria that may affect long-term risk of chronic kidney disease.