RESUMEN
OBJECTIVES: Chronic coronary heart disease (CHD) is correlated with an increased risk of cognitive impairment (CI), but the mechanisms underlying these changes remain unclear. The aim of the present study was to explore the potential changes in regional spontaneous brain activities and their association with CI, to explore the pathophysiological mechanisms underlying CI in patients with CHD. MATERIALS AND METHODS: A total of 71 CHD patients and 73 matched healthy controls (HCs) were included in this study. Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) were used to assess the participants' cognitive functions. Regional homogeneity (ReHo) and fractional amplitude of low-frequency fluctuation(fALFF) values were calculated to determine regional spontaneous brain activity. Coronary artery calcium (CAC) score provides a measure of the total coronary plaque burden. Mediation analyses were performed to test whether CHD's effects on cognitive decline are mediated by decreased regional spontaneous brain activity. RESULTS: Patients with CHD had significantly lower MMSE and MoCA scores than the HCs. Compared with the HCs, the patients with CHD demonstrated significantly decreased ReHo and fALFF values in the bilateral medial superior frontal gyrus (SFGmed), left superior temporal gyrus (TPOsup) and left middle temporal gyrus (TPOmid). Impaired cognitive performance was positively correlated with decreased activities in the SFGmed. Mediation analyses revealed that the decreased regional spontaneous brain activity in the SFGmed played a critical role in the relationship between the increase in CAC score and the MoCA and MMSE scores. CONCLUSION: The abnormalities of spontaneous brain activity in SFGmed may provide insights into the neurological pathophysiology underlying CHD associated with cognitive dysfunction.
Asunto(s)
Disfunción Cognitiva , Enfermedad Coronaria , Humanos , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagen , Disfunción Cognitiva/diagnóstico por imagen , Disfunción Cognitiva/complicaciones , Cognición/fisiología , Enfermedad Coronaria/complicaciones , Enfermedad Coronaria/diagnóstico por imagenRESUMEN
La displasia frontometafisaria 2 (DFM2) es una enfermedad rara causada por una mutación en el gen MAP3K7. En este artículo, se informa sobre un paciente de 7 años con DFM2 causada por una variante nueva de corte y empalme en MAP3K7. El paciente presenta las características frecuentes de la DFM2, pero algunas nunca antes informadas. No se dispone de una descripción sistemática de las características de las imágenes tomográficas de la DFM2. Describimos ciertas diferencias en las características de la DFM2, la bibliografía publicada y las manifestaciones imagenológicas generales de la DFM2. Este caso resalta la importancia del valor clínico de la tomografía computada (TC) y la renderización de volúmenes (VR) en el diagnóstico de la DFM2. Las características de la DFM2 pueden observarse claramente en los estudios tomográficos, lo que señala la gran importancia de la TC para el diagnóstico y el tratamiento precoces de los pacientes con DFM2.
Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. We report a 7-year-old sporadic patient with FMD2 due to a de novo splicing variant in MAP3K7. He has the common characteristics of FMD2 but also has some characteristics that have never been reported, which increases the clinical phenotype of FMD2. Moreover, no systematic description of the imaging characteristics of FMD2 in computed tomography (CT) is available. In the present work, we found some different features of FMD2, reviewed previous literature, and summarized the general imaging manifestations of FMD2. This case emphasizes the important clinical value of CT and VR in the diagnosis of FMD2. We can clearly find the characteristics of FMD2 by CT examination, indicating its great significance for the prompt diagnosis and treatment of FMD2 patients.
Asunto(s)
Humanos , Masculino , Niño , Osteocondrodisplasias/complicaciones , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Hipertensión Arterial Pulmonar , Fenotipo , FrenteRESUMEN
Frontometaphyseal dysplasia 2 (FMD2) is a rare disease caused by MAP3K7 gene mutation. We report a 7-year-old sporadic patient with FMD2 due to a de novo splicing variant in MAP3K7. He has the common characteristics of FMD2 but also has some characteristics that have never been reported, which increases the clinical phenotype of FMD2. Moreover, no systematic description of the imaging characteristics of FMD2 in computed tomography (CT) is available. In the present work, we found some different features of FMD2, reviewed previous literature, and summarized the general imaging manifestations of FMD2. This case emphasizes the important clinical value of CT and VR in the diagnosis of FMD2. We can clearly find the characteristics of FMD2 by CT examination, indicating its great significance for the prompt diagnosis and treatment of FMD2 patients.
La displasia frontometafisaria 2 (DFM2) es una enfermedad rara causada por una mutación en el gen MAP3K7. En este artículo, se informa sobre un paciente de 7 años con DFM2 causada por una variante nueva de corte y empalme en MAP3K7. El paciente presenta las características frecuentes de la DFM2, pero algunas nunca antes informadas. No se dispone de una descripción sistemática de las características de las imágenes tomográficas de la DFM2. Describimos ciertas diferencias en las características de la DFM2, la bibliografía publicada y las manifestaciones imagenológicas generales de la DFM2. Este caso resalta la importancia del valor clínico de la tomografía computada (TC) y la renderización de volúmenes (VR) en el diagnóstico de la DFM2. Las características de la DFM2 pueden observarse claramente en los estudios tomográficos, lo que señala la gran importancia de la TC para el diagnóstico y el tratamiento precoces de los pacientes con DFM2.