Arch Iran Med
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To measure parameters suggesting right heart failure on computed tomography angiography (CTA) taken in pulmonary embolism (PE) and to evaluate their possible contribution to the diagnosis. To investigate the changes in the parameters of PE cases at the 6th month-1 year and to evaluate the importance of these values in prognosis. PE is a disease which may be difficult to diagnose because of its different symptoms and can be fatal. The evaluation of right heart failure findings with CTA is very important in diagnosis and follow-up. ⋯ It can be said that the values we measured are important in terms of prognosis of PE by assisting in diagnosis and in evaluating post-treatment recovery.
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Uterine fibroids (UFs) are the most common benign tumors of the uterus with an unknown etiology, affecting many women of reproductive age. We aimed to evaluate the association between UFs and anthropometric features, subcutaneous and preperitoneal fat thickness and lipid profile. ⋯ Our findings suggest that with aging and higher levels of LDL-C, the likelihood of developing UFs rises.
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Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features. ⋯ Ataxia-telangiectasia is a progressive disease with no established therapy; so, it necessitates early diagnosis and follow-up of the patients. The presented clinical and immunological data in this study may help with diagnosis and management of the disease complications.
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Case Reports
Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.
The TWNK (C10orf2) gene encodes Twinkle, an essential helicase for mtDNA replication. Homozygous mutations in TWNK can lead to mitochondrial DNA depletion syndrome 7 (MTDPS7) that usually manifests as Infantile onset spinocerebellar ataxia (IOSCA). Here, we report a 15-year-old Iranian boy with three main symptoms; ataxia, sensorineural hearing loss and optic nerves atrophy which were accompanied by other symptoms including flexion contracture, dysarthric speech, nystagmus, dystonia and borderline intellectual disability. ⋯ Pro292Thr). In silico analyses showed that this amino acid change in Twinkle could be deleterious and disease-causing; therefore, we attribute the symptoms of our patient to this mutation. Our study extended the homozygous mutation spectrum of the TWNK gene that leads to IOSCA.