RESUMEN
Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features. Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders. Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs' disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI.
RESUMEN
OBJECTIVES: We aimed to identify coronary artery involvement in mustard gas-poisoned patients. METHODS: We conducted a case-control study on 40 mustard gas-poisoned patients who underwent coronary artery angiography due to cardiac pain. The study was performed during a 3-year interval on patients who were referred to three main hospitals of Mashhad, Iran. The nonexposed control group consisted of 40 normal individuals who had undergone angiography for the same reasons. The primary outcome measurement was coronary artery involvement and its location. Data were collected through studying the angiography films. RESULTS: Among the 40 poisoned patients studied, 15 (37.5%) had coronary artery ectasia, mainly in the left anterior descending artery, but 25 (62.5%) did not. The same values were 2 (5%) and 38 (95%) in the nonexposed group, respectively, which was significantly different compared to the exposed group (p = 0.001). The odds ratio was 11.40. CONCLUSIONS: The prevalence of coronary artery ectasia in mustard gas-poisoned patients was 7.5 times more than in nonexposed controls. Considering the proposed odds ratio, the occurrence of coronary artery ectasia is around 11.4 times greater in mustard gas-poisoned veterans. This is the first study to suggest a strong correlation between mustard gas poisoning and coronary artery ectasia.
