Novel characteristics for immunophenotype, FISH pattern and molecular cytogenetics in synovial sarcoma.

As a rare and highly aggressive soft tissue sarcoma, the new immunophenotype, atypical FISH pattern and relevant molecular cytogenetics of synovial sarcoma (SS) remain less known, although it is characteristically represented by a pathognomonic chromosomal translocation t (X; 18) (p11.2; q11.2). Methodologically, the morphology was retrospectively analysed by using H&E staining, and immunohistochemical features were investigated by using markers that have been recently applied in other soft tissue tumors. Moreover, FISH signals for SS18 and EWSR-1 break-apart probes were examined. Finally, cytogenetic characteristics were analysed via RT-PCR and Sanger sequencing. Consequently, nine out of thirteen cases that were histologically highly suspected as SS were finally identified as SS via molecular analysis. Histologically, nine SS cases were divided into monophasic fibrous SS (4/9), biphasic SS (4/9) and poorly differentiated SS (1/9). Immunohistochemically, SOX-2 immunostaining was positive in eight cases (8/9) and PAX-7 immunostaining was diffusely positive in the epithelial component of biphasic SS (4/4). Nine cases showed negative immunostaining for NKX3.1 and reduced or absent immunostaining for INI-1. Eight cases showed typically positive FISH signalling for the SS18 break-apart probe, whereas one case exhibited an atypical FISH pattern (complete loss of green signalling, case 2). Furthermore, the SS18-SSX1 and SS18-SSX2 fusion genes were identified in seven cases and two cases, respectively. The fusion site in 8 out of 9 cases was common in the literature, whereas the fusion site in case 2 was involved in exon 10 codon 404 in SS18 and exon 7 codon 119 in SSX1 (which has not been previously reported), which notably corresponded to the complete loss of green signalling in the FISH pattern. Additionally, FISH analysis of the EWSR-1 gene in nine SS cases demonstrated aberrant signalling in three cases that were recognized as a monoallelic loss of EWSR-1 (1/9), an amplification of EWSR-1 (1/9) and a translocation of EWSR-1 (1/9). In conclusion, SS18-SSX fusion gene sequencing is obligatory for a precise diagnosis of SS when dealing with a confusing immunophenotype and atypical or aberrant FISH signalling for SS18 and EWSR-1 detection.

Bioinformatics Analysis of a Functional ANGPT1 Variant That Interferes with miR-607 and Its Association with Susceptibility and Outcome of Ischemic Stroke in a Han Population.

PURPOSE: Ischemic stroke (IS) is a major cause of disability and death. We used bioinformatics approaches to investigate a functional ANGPT1 variant that interferes with miR-607 and explored its association with IS. MATERIALS AND METHODS: An IS expression microarray (GSE16561) was downloaded from the GEO and used to identify differentially expressed genes (DEGs) and functional enrichment pathways. Analyses showed that ANGPT1 participated in six key pathways and was susceptible to a key functional polymorphism rs2507799. We genotyped 567 IS patients and 500 controls for ANGPT1 rs2507799. Luciferase assays were also conducted to investigate the binding between miR-607 and ANGPT1 rs2507799. RESULTS: In total, we identified 458 DEGs between IS patients and healthy controls in the GSE16561 dataset. GO functional enrichment analysis showed that these DEGs were mainly enriched in cell-substrate junctions, the regulation of peptide secretion, and the regulation of cytokine secretion involved in immune response. ANGPT1 rs2507799 T-carriers had a significantly higher risk of IS (Dominant model: OR = 1.48, 95% CI = 1.01-2.17, P = 0.044). IS patients harboring the TC/TT genotype experienced significantly more severe injuries in terms of neurological function (Dominant model: OR = 2.06, 95% CI = 1.28-3.31, P = 0.003). Analysis also showed that IS patients harboring the TC/TT genotype had a significantly worse outcome (Dominant model: OR = 2.22, 95% CI = 1.35-3.67, P = 0.002). Luciferase assays indicated that miR-607 could affect luciferase activity by binding to the ANGPT1 mutant type. CONCLUSION: In this study, we used bioinformatical methods to investigate a key IS-related gene ANGPT1 and its functional polymorphism rs2507799. rs2507799 was found to be associated with a significantly increased risk for IS, a significantly more severe initial stroke severity, and a worse outcome. These results may help to improve the future management of ischemic stroke.

Electrocardiogram Characteristics of Different Motor Types of Parkinson's Disease.

AIM: This study aims to investigate the electrocardiogram characteristics of the different motor types of Parkinson's disease. METHODS: The data on 118 patients with Parkinson's disease (PD), who were initially diagnosed in the Outpatient and Inpatient Department, was collected. Among these 118 PD patients, 74 patients were assigned to the PIGD group, while 44 patients were assigned to the TD group, and their clinical features were analyzed, which included age, course, disease classification, and electrocardiogram parameters (PR, QRS, QT interval, and QTC). RESULTS: The QT interval in PD patients was positively correlated with the course of the disease and Hoehn-Yahr stage, and the QT interval in the PIGD group was longer than that in the TD group. CONCLUSION: A prolonged QT interval may indicate a longer disease period and a more severe disease condition.

Primary malignant gastrointestinal neuroectodermal tumor occurring in the ileum with intra-abdominal granulomatous nodules: A case report and review of the literature.

Malignant gastrointestinal neuroectodermal tumors (GNETs) are rare aggressive malignant neoplasms that exclusively occur within the wall of the gastrointestinal tract. The GNET was first described as an 'osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma (CCS) of soft parts' in 2003. Although the GNET shares certain histological features with CCS, it is characterized by a lack of melanocytic differentiation and the presence of non-tumoral osteoclast-like giant cells (OLGCs). The present study reports a case of a GNET of the ileum with intra-abdominal granulomatous nodules, an uncommon accompanying finding, and summarizes the current literature. A 30-year-old woman presented with the symptoms of intestinal obstruction, and a mass was found within the ileum wall. Multiple grey-white nodules were found adhering to the omentum and serosa of the ileum. Histologically, the tumor was located in the muscularis propria and infiltrated the mucosa and the serosa. Tumor cells presented with oval or polygonal nuclei and prominent nucleoli, and were predominantly arranged in nested and pseudopapillary patterns, with the presence of cluster of differentiation (CD)68-positive, scattered OLGC. Immunohistochemically, it was determined that the tumor cells expressed Vimentin, CD56, S-100 and transcription factor SOX-10, while being negative for pan-cytokeratin, cytokeratin (CK)7, CK20, synaptophysin, chromogranin-A, CD117, anoctamin-1, CD34, human melanoma black-45, Melan-A, smooth muscle actin, CD3 and CD20 expression. Ewing sarcoma breakpoint region 1 gene rearrangement was identified by fluorescence in situ hybridization analysis. Ultrastructurally, no typical melanosomes were identified. In addition, the intra-abdominal grey-white nodules were microscopically identified as chronic granulomatous inflammation. The patient received four cycles of adjuvant chemotherapy following routine tumor resection. Due to its rarity and histological similarity with other neoplasms, unfamiliarity with the features of GNETs by surgical pathologists can easily lead to a misdiagnosis. Therefore, comprehensive assessments, including morphology and ancillary studies, are required for an accurate diagnosis of GNET.

Level of uric acid and uric acid/creatinine ratios in correlation with stage of Parkinson disease.

This study aims to investigate relationship between the level of uric acid (UA) and UA/creatinine ratios (UA/Cr) to the stage of Parkinson disease (PD).A total of 120 cases of PD patients who were admitted in our hospital between 2013 and 2015 were enrolled into this study; these 120 cases of PD patients were divided into 3 groups, according to Hoehn-Yahr (H-Y) classification: early stage (1-2 classification), medium stage (2.5-3 classification), and advanced stage (4-5 classification); UA and UA/Cr level in each group was compared. Then, factors including age, gender, dopamine dosage, UA, and UA/Cr levels were analyzed to find the independent predictive factors of PD by logistic regression.UA and UA/Cr levels in the early and medium stage PD patients were significantly higher than in the advanced stage ones. UA and UA/Cr levels in patients with good prognosis were significantly higher than in the poor ones.UA and UA/Cr levels are negatively correlated with the stages of PD and are independent negatively predicting biological indexes of PD incidence and progression.

Inner ear structure of miniature pigs measured by multi-planar reconstruction techniques.

To study the structures of the scala vestibuli and tympani of miniature pigs in order to evaluate the feasibility of using miniature pigs as the animal model for cochlear implant. The temporal bones of three miniature pigs with normal hearing were scanned by micro-CT. With the aid of the Mimics software, we reconstructed the 3D structure of inner ear basing on the serial images of the miniature pig, and obtained dimensions of the scala vestibuli and tympani with multi-planar reconstruction (MPR) technique. The constructed slicing images displayed the fine structures of the cochlea. The results of our study showed that the cross-sectional areas of the scala tympani were greatest at 2.67 ± 0.90 mm2 when the circumferential length from the starting point of basal turn of the cochlea reached to 1.16 mm. The scala vestibuli has a largest width and height at the starting point of basal turn. The width and the height were 2.65 ± 0.45 mm and 2.43 ± 0.2 mm respectively. The largest width and height of the scala tympani were 2.17 ± 0.30 mm and 1.83 ± 0.42 mm. The result of our study suggests that the cochlea of miniature pigs is highly consistent with human's. Miniature pigs may be used as a new model for cochlear implant. MPR technique may be used as a new approach to obtain further information of patient's cochlea in surgeons which is helpful to select suitable cochlear implant devices and surgery approach.

Effects of low oxygen dead space ventilation and breath-holding test in evaluating cerebrovascular reactivity: A comparative observation.

OBJECTIVE: This study aims to explore the application prospect of low oxygen dead space ventilation (LODSV) in evaluating vasomotor reactivity (VMR) by comparison between LODSV and breath-holding test (BHT). METHODS: Outpatient or inpatient patients who underwent transcranial Doppler sonography (TCD) were enrolled into this study. These patients successively underwent BHT and LODSV. The cooperation degree, tolerance conditions and adverse reactions in patients were recorded, and VMR was calculated, compared and analyzed. RESULTS: Patients had poor cooperation during BHT. Except for compensatory tachypnea after BHT, patients basically had no adverse reaction. The main manifestations of patients undergoing LODSV were deepened breathing and accelerated frequency in the end of the ventilation, and increased heart rate and a slight decline in pulse oxygen that rapidly recovered after ventilation. The increase rate of blood flow velocity in patients undergoing LODSV was significantly higher than in BHT (P<0.001), and its calculated VMR value was approximately 15% higher than BHT (P<0.001). BHT revealed a monophasic curve that slightly descends and rapidly increases, and LODSV revealed a curve that descends for a short time and slowly increases with a platform. CONCLUSION: LODSV can effectively eliminate the affect of poor cooperation in patients, and avoid intolerance caused by hypoxia. Hence, VMR value is more accurate than that determined by BHT; and this can reflect the maximum reaction ability of the blood vessels. Therefore, this method has higher clinical application value.

Anti-TNF-α reduces amyloid plaques and tau phosphorylation and induces CD11c-positive dendritic-like cell in the APP/PS1 transgenic mouse brains.

Inflammation plays an important role in the pathogenesis of Alzheimer's disease (AD). Overexpression of tumor necrosis factor-α (TNF-α) occurs in the AD brain. Recent clinical studies have shown that the anti-TNF-α therapy improves cognition function of AD patients rapidly. However, the underlying mechanism remains elusive. The present study investigates the effects of intracerebroventricular injection of the monoclonal TNF-α antibody, Infliximab, on the pathological features of AD in the APP/PS1 double transgenic mice. We found that Infliximab administration reduced the levels of TNF-α, amyloid plaques, and tau phosphorylation as early as three days after daily injection of 150 µg Infliximab for three days. The number of CD11c-positive dendritic-like cells and the expression of CD11c were found to be increased concurrently after Infliximab injection. These data suggested that the CD11c-positive dendritic-like cells might contribute to the Infliximab-induced reduction of AD-like pathology. Furthermore, our results support the use of anti-TNF-α for the treatment of AD.