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1.
J Neurol Neurosurg Psychiatry ; 90(5): 576-585, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30530568

RESUMEN

BACKGROUND AND OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data. METHODS: We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data. RESULTS: Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment. CONCLUSIONS: We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.


Asunto(s)
Músculo Esquelético/diagnóstico por imagen , Distrofia Muscular Oculofaríngea/diagnóstico por imagen , Adulto , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Distrofia Muscular Oculofaríngea/complicaciones , Distrofia Muscular Oculofaríngea/patología , Tomografía Computarizada por Rayos X
2.
Rev Med Chil ; 147(9): 1206-1209, 2019 Sep.
Artículo en Español | MEDLINE | ID: mdl-33625456

RESUMEN

Adventitial cystic disease of the popliteal artery is a rare condition of uncertain etiology, which presents as intermittent claudication of the lower extremity in middle-age patients. We report a 44-year-old man presenting with intermittent claudication of his left leg. MR angiography showed cystic parietal lesions that caused compression with partial occlusion of the left popliteal artery. Surgical resection of the affected segment was performed, with venous graft interposition. The histopathological analysis of the surgical specimen was consistent with cystic adventitial disease.


Asunto(s)
Quistes , Claudicación Intermitente , Adulto , Angiografía , Quistes/complicaciones , Quistes/diagnóstico por imagen , Humanos , Claudicación Intermitente/etiología , Pierna , Masculino , Persona de Mediana Edad , Arteria Poplítea/diagnóstico por imagen
3.
J Clin Med ; 13(13)2024 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-38999430

RESUMEN

Exposure to ionizing radiation (IR) is inevitable in various X-ray imaging examinations, with computed tomography (CT) being a major contributor to increased human radiation exposure. Ionizing radiation may cause structural damage to macromolecules, particularly DNA, mostly through an indirect pathway in diagnostic imaging. The indirect pathway primarily involves the generation of reactive oxygen species (ROS) due to water radiolysis induced by IR, leading to DNA damage, including double-strand breaks (DSB), which are highly cytotoxic. Antioxidants, substances that prevent oxidative damage, are proposed as potential radioprotective agents. This Study Protocol article presents the rationale for selecting vitamin C as a preventive measure against CT-associated IR-induced DNA damage, to be investigated in a randomized placebo-controlled trial, with a full in vivo design, using an oral easy-to-use schedule administration in the outpatient setting, for the single CT examination with the highest total global IR dose burden (contrast-enhanced abdomen and pelvis CT). The study also aims to explore the mediating role of oxidative stress, and it has been written in adherence to the Standard Protocol Items recommendations.

4.
Rev. méd. Chile ; 147(9): 1206-1209, set. 2019. graf
Artículo en Español | LILACS | ID: biblio-1058665

RESUMEN

Adventitial cystic disease of the popliteal artery is a rare condition of uncertain etiology, which presents as intermittent claudication of the lower extremity in middle-age patients. We report a 44-year-old man presenting with intermittent claudication of his left leg. MR angiography showed cystic parietal lesions that caused compression with partial occlusion of the left popliteal artery. Surgical resection of the affected segment was performed, with venous graft interposition. The histopathological analysis of the surgical specimen was consistent with cystic adventitial disease.


Asunto(s)
Humanos , Masculino , Adulto , Persona de Mediana Edad , Quistes/complicaciones , Quistes/diagnóstico por imagen , Claudicación Intermitente/etiología , Arteria Poplítea/diagnóstico por imagen , Angiografía , Pierna
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