While genetic analyses have revealed ~100 risk loci associated with osteoarthritis (OA), only eight have been linked to hand OA. Besides, these studies were performed in predominantly European and Caucasian ancestries. Here, we conducted a genome-wide association study in the Han Chinese population to identify genetic variations associated with the disease. We recruited a total of 1136 individuals (n = 420 hand OA-affected; n = 716 unaffected control subjects) of Han Chinese ancestry. We carried out genotyping using Axiom Asia Precisi on Medicine Research Array, and we employed the RegulomeDB database and RoadMap DNase I Hypersensitivity Sites annotations to further narrow down our potential candidate variants. Genetic variants identified were tested in the Geisinger’s hand OA cohort selected from the Geisinger MyCode community health initiative (MyCode®). We also performed a luciferase reporter assay to confirm the potential impact of top candidate single-nucleotide polymorphisms (SNPs) on hand OA. We identified six associated SNPs (p-value = 6.76 × 10−7–7.31 × 10−6) clustered at 2p13.2 downstream of the CYP26B1 gene. The strongest association signal identified was rs883313 (p-value = 6.76 × 10−7, odds ratio (OR) = 1.76), followed by rs12713768 (p-value = 1.36 × 10−6, OR = 1.74), near or within the enhancer region closest to the CYP26B1 gene. Our findings showed that the major risk-conferring CC haplotype of SNPs rs12713768 and rs10208040 [strong linkage disequilibrium (LD); D’ = 1, r2 = 0.651] drives 18.9% of enhancer expression activity. Our findings highlight that the SNP rs12713768 is associated with susceptibility to and severity of hand OA in the Han Chinese population and that the suggested retinoic acid signaling pathway may play an important role in its pathogenesis.
Single vehicle road departure (SVRD) accidents lead to over 1/3 of highway fatalities in the United States. A steering assist controller to reduce SVRD accidents is proposed. Previous studies using driving simulator data illustrate that the parametric uncertainty can represent the change in driver steering behaviour during long driving task. The uncertainty results show that occasionally the driver can perform very poorly. A serial steering control approach is investigated. The controller is used to attempt robust performance under the influence of driver uncertainty. A robust Smith predictor controller is employed to handle the delay in the driver model. The results indicate that the poor stability situations are successfully avoided and robust stability is achieved. However, due to large variations in driver behaviour, robust performance is not achieved. An adaptive version of the robust Smith predictor controller is shown to reduce the uncertainty in the driver model. The designed controllers are evaluated using frequency domain analyses and computer simulations.
Uterine arteriovenous malformations (AVMs) are relatively rare disorders that can cause life-threatening vaginal bleeding. We describe three childbearing-age females, who had abdominal pain and heavy vaginal bleeding, and were diagnosed as uterine AVM by color Doppler and angiography. The patients received successful superselective transarterial embolization (TAE) with N-butyl cyanoacrylate (NBCA). Three years after treatment, one of them was admitted to our hospital for vaginal delivery at 39 weeks of gestation, and the baby was healthy.
Breast cancer (BC) with cardiac metastases (CMs) is often associated with poor prognosis due to late stage of diagnosis.Palliative radiotherapy (RT) for CMs is generally used for symptomatic treatment and to maintain normal cardiac function.Palliative RT with hyperthermia (HT) or immunotherapy have been reported to be effective in prolonging the overall survival and progression-free survival in metastatic patients.In this case report, we present a heavily pretreated 51-year-old lady of metastatic BC presented with recurrent right breast mass with progressive exertional dyspnea caused by symptomatic CM.She received combined palliative low-dose palliative RT [20 Gray (Gy) in 12 fractions], combined with lowdose chemotherapy, biweekly HT treatment course, and low-dose "double blockade" immunotherapy by ipilimumab (0.3 mg/kg) and nivolumab (0.5 mg/kg).The irradiated right chest tumors responded rapidly to treatment.Interestingly, unirradiated metastatic lesions outside the RT and HT treatment field also demonstrated a sustained abscopal response.She continued monthly low-dose immunotherapy in conjunction with HT after RT.The posttreatment cardiac echography disclosed considerably reduced pericardial effusions without cardiac wall motion abnormalities.She remained stable for more than 6 months with no notable treatment-related toxicities.The combination of low-dose RT, low-dose immunotherapy, and HT protocol appears to be a safe method with promising efficacy in metastatic BC patients.
The aim of this study was to evaluate the potential application of 18-fluorodeoxyglucose positron emission tomography (FDG PET) and PET/CT for cancer screening in asymptomatic individuals. The subjects consisted of 3631 physical check-up examinees (1947 men, 1684 women; mean age +/- SD, 52.1 +/- 8.2 y) with non-specific medical histories. Whole-body FDG PET (or PET/CT), ultrasound and tumor markers were performed on all patients. Focal hypermetabolic areas with intensities equal to or exceeding the level of FDG uptake in the brain were considered abnormal and interpreted as neoplasia. Follow-up periods were longer than one year. Among the 3631 FDG PET (including 1687 PET/CT), ultrasound and tumor markers examinations, malignant tumors were discovered in 47 examinees (1.29%). PET findings were true-positive in 38 of the 47 cancers (80.9%). In addition, 32 of the 47 cancers were screened with the PET/CT scan. PET detected cancer lesions in 28 of the 32 examinees. However, the CT detected cancer lesions in only 15 out of 32 examinees. The sensitivity of FDG PET in the detection of a wide variety of cancers is high. Most cancer can be detected with FDG PET at a resectable stage. CT of the PET/CT for localization and characteristics of the lesion showed an increased specificity of the PET scan. The use of ultrasound and tumor markers may complement the PET scan in cancer screening for hepatic and urologic neoplasms.
Malignant primitive neuroectodermal tumor (PNET) of the chest wall (Askin tumor) is an uncommon malignant tumor afflicting the children and young adults. We retrospectively reveiw the clinical, radiological and pathological findings of three cases of Askin tumor at our hospital. Though Askin tumor is rare, it should be borne in mind and put on the list of differential diagnosis for chest wall or thoracic paraspinal masses in children or young adults.
Pneumatic dilatation is a first-line treatment for primary achalasia. Various balloons and guiding methods have been used. We used the 30-mm Rigiflex achalasia dilator under fluoroscopic guidance for 11 consecutive cases (6 males, 5 females, mean age of 51) of achalasia. A total of thirteen dilatations were performed. Ten cases (91%) were treated successfully after the first dilatation; among these cases, one (10%) had symptomatic recurrence 4 months after the treatment. However, no response to initial dilatation occurred in one case (9%). A second dilatation with a balloon of the same size failed to improve the nonresponder and the recurrent patient. The final success rate was 82% (9/11). The mean follow-up period is 15.6 months (range 3-31 months). Mild gastroesophageal reflux occurred in one case (9%). We conclude that it is effective and safe to treat achalasia with pneumatic dilatation using a 30-mm Rigiflex dilator under fluoroscopic guidance. Moreover, if repeated dilatation is needed, we recommend that a balloon of larger diameter be chosen to improve the outcome.
Preoperative evaluation for the dental implanting normally starts with a thorough physical examination of the oral cavity and dental arches to determine the potential sites for the implant placement. Spiral dental CT plays a very important role in preoperative evaluation and postoperative follow up. It provides both 2 and 3-dimensional images, showing soft tissues and alveolar bone in each area, and it can be used to select the sites of implantation and to evaluate the angulations, the density and the contour of the alveolar bone, as well as the width and depth of the edentulous ridge.
Cat-scratch disease is a benign lymphadenopathy that usually occurs in children and young adults. It is probably underdiagnosed clinically due to lack of history of being scratched or bitten by a cat or kitten. Awareness of the radiological features of cat-scratch disease may facilitate noninvasive diagnosis of this condition. We report five cases of cat-scratch disease with tender palpable masses. Cross-sectional imaging with computed tomography (CT) (n=4) and magnetic resonance (MR) imaging (n=1) showed a mass or clustered nodules with surrounding edema in an area of lymphatic drainage. We discuss the clinical manifestations, radiological features and differential diagnosis based on imaging study.
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