Bioinformatics challenges in molecular epidemiology of cancers

Molecular epidemiology is the integration of molecular biologic techniques into epidemiologic study. With the advances in understanding of carcinogenesis and the human genome, there has been an evolution in the field of cancer epidemiology. However, traditional analyses of single genetic variants often fail to identify susceptibility genes for cancer risk. In particular, recent technological evolution has enabled high-throughput analyses for a number of genetic variants and driven accumulation of unprecedentedly large genome data, imposing bioinformatics challenges. These studies aim to integrate the genetic basis of complex diseases including cancers in which the interplay of multiple genetic and environmental risk factors may play an important role. Here we outline currently available approaches for detecting variants of cancer risk. We also review upcoming bioinformatics challenges and technical aspects in the field of molecular epidemiology, and discuss their future impact on the understanding of carcinogenesis and personalized strategies for cancer prevention and therapy

Thyroid Isthmus Length and Iodine Turnover as Predictors of Successful Radioactive Iodine Therapy in Patients with Graves’ Disease

Radioactive iodine (RAI) therapy is an effective treatment option for Graves’ disease. However, predicting treatment failures after RAI therapy remains controversial. The objective of this study was to investigate the factors associated with the success rate of RAI therapy for treatment of Graves’ hyperthyroidism. Thyroid functional outcome, pre-RAI ultrasonographic features, and clinical parameters were evaluated retrospectively in 98 patients followed up for at least 12 months after RAI (mean RAI dose was 11.7 ± 1.8 mCi). Hypothyroidism was achieved in 59 patients (60.2%), and euthyroidism in 16 patients (16.3%), while 23 patients (23.5%) remained hyperthyroid. Age, sex, body mass index, pre-RAI thyroid function, or thyroid-stimulating immunoglobulin levels were not associated with treatment outcome. Length of thyroid isthmus (p=0.028) and 2- to 24-hour iodine uptake ratios (p=0.002) were significantly associated with treatment failure, which was defined as a persistent hyperthyroid status after RAI therapy. Patients with a longer isthmus had a higher risk of remaining hyperthyroid, with a threshold for isthmus length of 5.2 mm, with a sensitivity of 69.6% and specificity of 70.3% for treatment success. Measuring the length of the thyroid isthmus can be a simple and useful way to predict RAI treatment outcome

In Vivo Analysis of Three-Dimensional Dynamic Scapular Dyskinesis in Scapular or Clavicular Fractures

The three-dimensional (3D) kinematics of the scapula were analyzed in vivo in 10 patients with scapular and 10 patients with clavicular fracture. Both the injured shoulder and normal contralateral shoulder were evaluated by computed tomography in the neutral and fully elevated positions. 3D rotational and translational movements of the scapula relative to the thorax during arm elevation were analyzed. A computer simulation program was used to compare rotational elevation/depression in the coronal plane, anterior/posterior tilting in the sagittal plane and protraction/retraction in the axial plane between the normal and affected sides. Anterior/posterior translational movement along the X-axis, upward/downward movement along the Y-axis, and lateral/medial movement along the Z-axis in the Euler space during forward elevation were also compared. In scapular fracture, rotational elevation of the scapula decreased in the coronal plane and posterior tilting of the scapula increased in the sagittal plane. Anterior and superior translation were higher in scapular fracture than in the corresponding normal sides. However, no significant abnormal rotational and translational kinematic changes were observed during elevation in clavicular fracture. In vivo 3D computerized motion analysis was useful for evaluating scapular dyskinesis. Scapular fracture can cause scapular dyskinesis, but not all clavicular fractures alter scapular motion biomechanics

A Comparison of Dimensional Standard of Several Nickel-Titanium Rotary Files

Objectives The aim of this study was to compare the dimensional standard of several nickel-titanium (Ni-Ti) rotary files and verify the size conformity. Materials and Methods ProFile (Dentsply Maillefer), RaCe (FKG Dentaire), and TF file (SybronEndo) #25 with a 0.04 and 0.06 taper were investigated, with 10 in each group for a total of 60 files. Digital images of Ni-Ti files were captured under light microscope (SZX16, Olympus) at 32×. Taper and diameter at D1 to D16 of each files were calculated digitally with AnalySIS TS Materials (OLYMPUS Soft Imaging Solutions). Differences in taper, the diameter of each level (D1 to D16) at 1 mm interval from (ANSI/ADA) specification No. 101 were statistically analyzed using one-way ANOVA and Scheffe\u27s post-hoc test at 95% confidence level. Results TF was the only group not conform to the nominal taper in both tapers (p \u3c 0.05). All groups except 0.06 taper ProFile showed significant difference from the nominal diameter (p \u3c 0.05). Conclusions Actual size of Ni-Ti file, especially TF, was different from the manufacturer\u27s statements

Recurrent Catecholamine-Induced Cardiomyopathy in a Patient With a Pheochromocytoma

Pheochromocytomas presents with variable clinical manifestations. Cardiomyopathy caused by a pheochromocytoma is well known. We report the case of a 62-year-old woman with recurrent left ventricular dysfunction, who was subsequently found to have a pheochromocytoma. The patient had two different patterns of cardiomyopathy. Patients with a cardiomyopathy, of non-specific origin, should have a pheochromocytoma ruled out

Radiologic-Pathologic Correlation of Unusual Lingual Masses: Part II: Benign and Malignant Tumors

Because the tongue is superficially located and the initial manifestation of most diseases occurring there is mucosal change, lingual lesionscan be easily accessed and diagnosed without imaging analysis. Some lingual neoplasms, however, may manifest as a submucosal bulge and be located in a deep portion of the tongue, such as its base; their true characteristics and extent may be recognized only on cross-sectional images such as those obtained by CT or MRI

Baseline heart rate variability in children and adolescents with vasovagal syncope

PurposeThis study aimed to evaluate the autonomic imbalance in syncope by comparing the baseline heart rate variability (HRV) between healthy children and those with vasovagal syncope.MethodsTo characterize the autonomic profile in children experiencing vasovagal syncope, we evaluated the HRV of 23 patients aged 7-18 years and 20 healthy children. These children were divided into preadolescent (<12 years) and adolescent groups. The following time-domain indices were calculated: root mean square of the successive differences (RMSSD); standard deviation of all average R-R intervals (SDNN); and frequency domain indices including high frequency (HF), low frequency (LF), normalized high frequency, normalized low frequency, and low frequency to high frequency ratio (LF/HF).ResultsHRV values were significantly different between healthy children and those with syncope. Student t test indicated significantly higher SNDD values (60.46 ms vs. 37.42 ms, P=0.003) and RMSSD (57.90 ms vs. 26.92 ms, P=0.000) in the patient group than in the control group. In the patient group, RMSSD (80.41 ms vs. 45.89 ms, P=0.015) and normalized HF (61.18 ms vs. 43.19 ms, P=0.022) were significantly higher in adolescents, whereas normalized LF (38.81 ms vs. 56.76 ms, P=0.022) and LF/HF ratio (0.76 vs. 1.89, P=0.041) were significantly lower in adolescents. In contrast, the control group did not have significant differences in HRV values between adolescents and preadolescents.ConclusionThe results of this study indicated that children with syncope had a decreased sympathetic tone and increased vagal tone compared to healthy children. Additionally, more severe autonomic imbalances possibly occur in adolescents than in preadolescents

Spontaneous Systemic Tumor Embolism Caused by Tumor Invasion of Pulmonary Vein in a Patient with Advanced Lung Cancer

We describe a 72-year-old man who presented with left hemiparesis due to acute cerebral infarction in the right fronto-temporal lobe. Three months prior to admission, he was hospitalized for right hemiparesis due to the acute cerebral infarction in the left anterior cerebral artery territory. To investigate the cause of his recurrent embolic event, a chest computed tomography scan and echocardiography were performed, which revealed advanced lung cancer invading contiguously through the pulmonary veins to the right main pulmonary artery and left atrium. Tumor embolism is a rare cause of stroke, occurring with primary or metastatic neoplasms of the lung. Echocardiography is a useful tool in patients with cerebral embolic episodes