Research progress of Mendelian randomization in ocular diseases / 国际眼科杂志(Guoji Yanke Zazhi)

Etiological research is necessary for understanding the occurrence and epidemiological patterns of diseases, and is also a prerequisite for the diagnosis, prevention and treatment of clinical diseases. Mendelian randomization(MR), a method of research that combines genetics and epidemiology, has the advantage of exploring the causal relationship between exposure and disease genetically as well as avoiding confounding factors and reverse causation. Thus, it has been extensively utilized in the etiological study of diseases. This paper reviews the implementation of MR in the research of ocular diseases and provides ideas and approaches for the investigation of related mechanisms as well as the development of intervention strategies.

Expresión atípica de enfermedad poco frecuente manifestada con nódulos pulmonares cavitados / Atypical Expression of Rare Disease Manifested with Cavitary Lung Nodules

Los nódulos pulmonares pueden ser variados: sólidos, en vidrio esmerilado; granulo matosos o no granulomatosos; cavitados o no cavitado. Son un hallazgo frecuente en las imágenes de tórax cuando el paciente llega a la consulta. Según sus características y en concordancia con los antecedentes del paciente (historia clínica, exámen físico y resultados de laboratorio) nos orienta a las distintas etiologías: infeccioso, autoinmune u oncológico. Sin embargo, muchas veces es un gran desafío clínico. Se presenta el caso de una paciente joven sin antecedentes que consulta por tos de 3 meses de evolución. En TC de tórax se evidencia masa mediastinal izquierda que desplaza tráquea y nódulos pulmonares bilaterales cavitados. Luego de descartarse etiologías más probables por frecuencia para su edad y forma de manifestación clínica, se arriba al diagnóstico de Linfoma de Hodgkin clásico Esclero Nodular con compromiso extranodal. Enfermedad poco frecuente y en nuestro caso, modo de presentación atípica.

Lung nodules can vary in nature: solid, ground glass, granulomatous or non-granulo matous, cavitary or non-cavitary. They are a common finding in chest imaging when the patient comes to the consultation. According to their characteristics and the patient's history (medical history, physical examination, and laboratory results), they guide us towards different etiologies: infectious, autoimmune, or oncological. However, many times it is a great clinical challenge. We present the case of a young patient with no previous medical history who came to the consultation with a cough of 3 months of evolution. The chest CT showed left mediastinal mass displacing the trachea and bilateral cavitary lung nodules. After ruling out more probable etiologies based on frequency for the patient's age and clinical manifestation, the diagnosis was: classic nodular sclerosing Hodgkin lymphoma with extranodal in volvement. A very rare disease, and in our case, with an atypical form of presentation.