Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.

Objective: To analyze the first referral service for rare diseases accredited by the Brazilian Ministry of Health, focusing on referral from the primary healthcare network through to diagnosis.

Methods: This is a descriptive study with patients treated between 2016 and 2021 at a referral hospital service located in Curitiba, Paraná, Brazil. Clinical and epidemiological data were obtained from medical records, as were the results of genetic tests at the hospital's clinical analysis laboratory.

A Strong Link Between Oceanographic Conditions and Zooplankton δC and δN Values in the San Jorge Gulf, Argentina.

Maps of (baseline) δC and δN values of primary producers or consumers near the base of food webs provide crucial information for interpreting patterns in the isotopic composition of consumers that occupy higher trophic levels. In marine systems, understanding how oceanographic variables influence these values enables the creation of dynamic isoscapes across time and space, providing insights into how ecosystems function. The San Jorge Gulf (SJG) in the southwest Atlantic Ocean (45° S-47° S) is an area of particular importance, as it is located on one of the most productive continental shelves in the world, supporting large fisheries and marine mammal and seabird populations.

Baseline colitogenicity and acute perturbations of gut microbiota in immunotherapy-related colitis.

Immunotherapy-related colitis (irC) frequently emerges as an immune-related adverse event during immune checkpoint inhibitor therapy and is presumably influenced by the gut microbiota. We longitudinally studied microbiomes from 38 ICI-treated cancer patients. We compared 13 ICI-treated subjects who developed irC against 25 ICI-treated subjects who remained irC-free, along with a validation cohort.