Arch Iran Med
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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.
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The aim of this study is to evaluate whether there is an association between the platelet mass and patent ductus arteriosus (PDA) closure in premature newborns. ⋯ Our data suggest that platelet count, MPV, and platelet mass do not contribute to closure of PDA in premature newborns.
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The present study deviates from previous approaches as it focuses on the concept of energy to illuminate cancer-related issues. Energy is a prerequisite for any function; cellular function is no exception, and thus, reduced energy in human cells can impair their performance. ⋯ Moreover, it presents a new definition for the origin of cancer stem cells and how they can regenerate cancer. This article regards a distinct aspect of cancer that helps to differentiate various phases of its progression and shed light on some of the uncharted zones of its pathway for the first time that needs further confirmation by empirical studies.
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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.