Yonsei medical journal
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Yonsei medical journal · Jul 2014
Can ultrasound be as a surrogate marker for diagnosing a papillary thyroid cancer? Comparison with BRAF mutation analysis.
We investigated the merit of ultrasound (US) features and BRAF(V600E) mutation as an additional study of cytology and compared the diagnostic performances of cytology alone, cytology with US correlation, cytology with BRAFV600E mutation, and a combination of cytology, US, and BRAFV600E mutation all together. ⋯ Considering the diagnostic performance and low reproducibility of US, the combination of FNA with BRAFV600E is the most reliable and objective method for diagnosing thyroid malignancy.
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Yonsei medical journal · Jul 2014
Case ReportsIsolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.
X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. ⋯ With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p. Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.
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Yonsei medical journal · Jul 2014
Dietary restraint is non-genetically associated with change in body mass index: the Healthy Twin Study.
We aimed to examine if past and more recent body mass index (BMI) changes are associated with eating behavior (EB) traits and whether these associations are due to non-genetic factors. ⋯ Greater BMI change since 20 years old is associated with higher dietary restraint, and non-genetic factors explain this relationship.
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Yonsei medical journal · Jul 2014
Mid-term follow up results of subtalar distraction arthrodesis using a double bone-block for calcaneal malunion.
This study was designed to evaluate the mid-term results and efficacy of subtalar distraction double bone-block arthrodesis for calcaneal malunion. ⋯ Subtalar distraction two bone-block arthrodesis provides overall good results not only in the short term but also the mid-term with significant improvement in clinical and radiologic outcomes. This procedure warrants consideration for managing calcaneal malunion with loss of height and subtalar arthritis.
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Yonsei medical journal · Jul 2014
Early repolarization and myocardial scar predict poorest prognosis in patients with coronary artery disease.
Recent studies show positive association of early repolarization (ER) with the risk of life-threatening arrhythmias in patients with coronary artery disease (CAD). This study was to investigate the relationships of ER with myocardial scarring and prognosis in patients with CAD. ⋯ ER in inferior leads with a horizontal/descending ST variant was associated with increased risk of cardiac events. These findings suggest that ER in patients with CAD may be related to myocardial scar rather than pure ion channel problem.