Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

BACKGROUND: Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant disease caused by mutations in APOE, the gene which encodes apolipoprotein E. LPG mainly affects Asian individuals, however occasional cases have also been described in Americans and Europeans. Herein we report two unrelated Brazilian patients with LPG in whom genetic analyses revealed the APOE-Osaka/Kurashiki variant. CASE PRESENTATION - CASE 1: A 29-year-old Caucasian male sought medical attention with complaints of face swelling and foamy urine for the last 3 months. He denied a family history of kidney disease, consanguinity, or Asian ancestry. His tests showed proteinuria of 12.5 g/24 h, hematuria, serum creatinine 0.94 mg/dL, albumin 2.3 g/dl, total cholesterol 284 mg/dL, LDL 200 mg/dL, triglycerides 175 mg/dL, and negative screening for secondary causes of glomerulopathy. A kidney biopsy revealed intraluminal, laminated deposits of hyaline material in glomerular capillaries consistent with lipoprotein thrombi. These findings were confirmed by electron microscopy, establishing the diagnosis of LPG. His apolipoprotein E serum level was 72 mg/dL and genetic analysis revealed the APOE pathogenic variant c.527G > C, p.Arg176Pro in heterozygosis, known as the Osaka/Kurashiki mutation and positioned nearby the LDL receptor binding site. CASE 2: A 34-year-old Caucasian man sought medical assessment for renal dysfunction and hypertension. He reported intermittent episodes of lower-limb edema for 3 years and a family history of kidney disease, but denied Asian ancestry. Laboratorial tests showed BUN 99 mg/dL, creatinine 10.7 mg/dL, total cholesterol 155 mg/dL, LDL 79 mg/dL, triglycerides 277 mg/dL, albumin 3.1 g/dL, proteinuria 2.7 g/24 h, and negative screening for secondary causes of glomerulopathy. His kidney biopsy was consistent with advanced chronic nephropathy secondary to LPG. A genetic analysis also revealed the Osaka/Kurashiki variant. He was transplanted a year ago, displaying no signs of disease relapse. CONCLUSION: We report two unrelated cases of Brazilian patients with a diagnosis of lipoprotein glomerulopathy whose genetic assessment identified the APOE-Osaka/Kurashiki pathogenic variant, previously only described in eastern Asians. While this is the second report of LPG in Latin America, the identification of two unrelated cases by our medical team raises the possibility that LPG may be less rare in this part of the world than currently thought, and should definitely be considered when nephrotic syndrome is associated with suggestive kidney biopsy findings.

Efeitos da pandemia na saúde mental de acadêmicos de medicina do 1º ao 4º ano em faculdade do noroeste paulista / The effects of the pandemic on the mental health of medical academics from year 1 to year 4 at northwestern school / Efectos de la pandemia en la salud mental de académicos de medicina del 1 al 4 año en un colegio del noroeste de São Paulo

Introdução: A pandemia da COVID-19 se reproduz em diversos efeitos na população mundial, sendo um deles e de grande importância, os possíveis impactos psicológicos frente a um contexto de insegurança e imprevisibilidade. Objetivo: Investigar quais foram os efeitos da pandemia na saúde mental dos alunos de medicina do 1º ao 4º ano em uma faculdade do noroeste paulista. Métodos: Trata-se de um estudo descritivo, transversal, com abordagem quantitativa, realizado através um questionário on-line, visando identificar as possíveis mudanças na saúde mental dos alunos. Resultados: No total, 229 estudantes universitários participaram do estudo. Os resultados indicaram que 51,5% dos estudantes participantes entrevistados relataram ansiedade frequente; 40,2% ansiedade com muita frequência; 52% estresse frequente e 35,8% estresse com muita frequência. As perdas econômicas durante o período de pandemia e o consumo de substâncias psicoativas foram associados a maiores frequências de ansiedade e estresse. Os participantes relataram uma variedade de sintomas manifestados, mais frequentemente cansaço constante (80,3%), preocupação excessiva (69,9%), dificuldade para concentração (80,8%), irritação frequente (67,2%) e sensação de desgaste físico constante (72,9%). Além disso, a sobrecarga e desgaste frequentes em relação ao sistema remoto de ensino à distância foram relatados pela maioria dos estudantes (59,8%). Conclusão: Foram identificadas mudanças negativas na saúde mental da maioria dos acadêmicos em consequência de uma pandemia, manifestando sintomas de ansiedade e estresse frente às mudanças sociais impostas no período. As questões econômicas, os efeitos da quarentena na rotina diária e as mudanças acadêmicas são fatores de impacto psicológico para os estudantes.(AU)

Introduction: The COVID-19 pandemic reproduces itself in several effects in the world population, one of them being of great importance, the possible psychological impacts facing a context of insecurity and unpredictability. Objective: To investigate the effects of the pandemic on the mental health of medical students from the 1st to the 4th year in a college in the northwest of São Paulo. Methods: This is a descriptive, cross-sectional study, with a quantitative approach, conducted through an online questionnaire, aiming to identify possible changes in the students' mental health. Results: In total, 229 university students participated in the study. The results indicated that 51.5% of the participating students reported frequent anxiety; 40.2% anxiety very often; 52% frequent stress and 35.8% stress very often. Economic losses during the pandemic period and the consumption of psychoactive substances were associated with higher frequencies of anxiety and stress. Participants reported a variety of symptoms manifested, most often constant tiredness (80.3%), excessive concern (69.9%), difficulty concentrating (80.8%), frequent irritation (67.2%), and a feeling of constant physical wear (72.9%). In addition, frequent overload and wear in relation to the remote distance learning system were reported by most students (59.8%). Conclusion: Negative changes were identified in the mental health of most academics as a result of a pandemic, manifesting symptoms of anxiety and stress in the face of social changes imposed in the period. Economic issues, the effects of quarantine on daily routine and academic changes are psychological impact factors for students.(AU)

Introducción: La pandemia de COVID-19 se reproduce en varios efectos sobre la población mundial, uno de los cuales es de gran importancia, los posibles impactos psicológicos ante un contexto de inseguridad e imprevisibilidad. Objetivo: investigar los efectos de la cuarentena en la salud mental de estudiantes de medicina del 1º al 4º año de una facultad del noroeste de São Paulo. Métodos: Se trata de un estudio descriptivo, transversal con enfoque cuantitativo, realizado a través de un...(AU)