Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disease with heterogeneous clinical manifestations. Evidence on the disease burden of ASMD is limited in Brazil. Methods: This observational, multicenter, retrospective study assessed the characteristics and clinical data of patients with ASMD type B and type A/B. Patients’ demographic data were retrieved from Hospital de Clínicas de Porto Alegre between January 1, 1986 and May 31, 2021, and available medical records were collected from eight centers in Brazil. Results: The study included 124 patients (full cohort: ASMD type B [75.8%] and type A/B [24.2%]; median [interquartile range {IQR}] age: 10.0 [3.6–19.9] years at diagnosis, n = 94), while medical records were available for 24 patients (subset cohort: ASMD type B [87.5%] and type A/B [12.5%]; median [IQR] age: 6.7 [1.9–11.3] years at diagnosis). Hepatobiliary and splenic manifestations were the most common clinical findings at symptom onset/diagnosis (75.0% and 70.8%, respectively) and at the last follow-up/death (83.3% each), with the majority of patients showing abnormal liver function parameters at both time points. At least 50.0% of patients had comorbidities at symptom onset or diagnosis. The incidence of hospitalization was reported in 33.3% patients at symptom onset/diagnosis and in 45.9% at the last follow-up/death. During the follow-up period, two patients with ASMD type A/B died in the subset cohort. Conclusions: The study provides insights into the high burden of illness in patients with ASMD, highlighting the need for disease awareness and early diagnosis in Brazil.

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic diseases rapidly growing due to the discovery of new subtypes. As with many genetic conditions, their diagnosis can be challenging, impairing proper patient care and causing additional suffering to patients and their families. We have developed an N-glycomics strategy that can provide insightful information towards diagnosing CDG type II (CDG-II). N-glycans released from the plasma of healthy individuals were labeled with deuterated iodomethane, mixed with samples from known or suspected CDG-II individuals, which were derivatized with standard iodomethane, and analyzed by liquid chromatography–mass spectrometry. After identification, relative quantification of 65 glycans was performed, revealing considerable alterations in the N-glycome of several patients. Notably, reduced fucosylation was observed in patients with FUT8-CDG and SLC35C1-CDG. Additionally, individuals with mutations in the MAN1B1 gene exhibited increased amounts of hybrid and oligomannosidic structures, whereas patients with the Golgi homeostasis disorders COG1-CDG and ATP6V0A2-CDG presented marked increases in hypogalactosylated and hyposialylated structures. Multivariate statistical analysis indicated two undiagnosed patients with alterations similar to ATP6V0A2-CDG patients and another two with a profile similar to MAN1B1-CDG patients. Genetic sequencing (targeted gene panel or whole exome sequencing) of these undiagnosed patients revealed variants in the corresponding genes, confirming the diagnosis obtained from the N-glycomics analysis. Our results demonstrate how the analysis of total plasma N-glycans can be used to identify metabolic disorders and diagnose conditions based on their molecular effects on the glycoproteome.

Objetivo: avaliar o comportamento dos estudantes de Medicina em relação à automedicação em uma instituição de ensino pública de saúde do Distrito Federal. Métodos: trata-se de um estudo descritivo transversal quantitativo, realizado através da aplicação de um questionário estruturado aos discentes do curso de Medicina da instituição em estudo. Os dados foram analisados por estatística descritiva e os resultados expressos com intervalos de confiança de 95%. Resultados: participaram do estudo 209 alunos, dos quais 88,5% referiram praticar automedicação. A análise por série do curso indicou uma incidência de 93,9%, 90,3%, 75,6%, 92,1% e 90,9%, respectivamente, entre os alunos do 1º ao 4º ano e internato. Os medicamentos mais utilizados foram analgésicos e antitérmicos (83,4%). Entre os que declararam realizar automedicação, 93,0% afirmaram que pretendem continuar com a prática. Conclusão: A incidência da automedicação entre os estudantes de Medicina analisados é elevada e necessita de intervenção, sobretudo das instituições educacionais.