GBP2 as a potential prognostic predictor with immune-related characteristics in glioma.

Guanylate binding protein 2 (GBP2) is a member of the guanine binding protein family, and its relationship with prognostic outcomes and tumor immune microenvironments in glioma remains elusive. We found GBP2 were increased in glioma tissues at both mRNA and protein levels. Kaplan-Meier curves revealed that high GBP2 expression was linked with worse survival of glioma patients, and multivariate Cox regression analysis indicated that high GBP2 expression was an independent prognostic factor for glioma. Combined analysis in immune database revealed that the expression of GBP2 was significantly related to the level of immune infiltration and immunomodulators. Single-cell analysis illustrated the high expression of GBP2 in malignant glioma cells showed the high antigen presentation capability, which were confirmed by real-time polymerase chain reaction (qRT-PCR) data. Additionally, the hsa-mir-26b-5p and hsa-mir-335-5p were predicted as GBP2 regulators and were validated in U87 and U251 cells. Our results first decipher immune-related characteristics and noncoding regulators of GBP2 in glioma, which may provide insights into associated immunotherapies and prognostic predictor.

Melanotic Neuroectodermal Tumor of Infancy in the Epididymis: A Rare and Considerable Cause of Scrotal Mass.

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, benign neoplasm with a predilection for children that predominantly involves the craniofacial region. Here we report 2 cases of MNTI involving epididymis, placing emphasis on the sonographic features. Both appeared to be hypoechoic, regular shaped masses with abundant blood supplies. The unique sonographic features and age of predilection make it possible to diagnose MNTI within the scrotum by ultrasonography.

Therapeutic effects of diode laser on vascular epulis in esthetic area.

Vascular epulis is a rare clinical disease. In our study, a case of vascular epulis in the cosmetic area was treated by diode laser, without recurrence and obvious inflammation in the surgical site 5 years after surgery. This case report indicates that the excision of vascular epulis in the cosmetic area of the anterior teeth by diode laser could be an alternatively safe and complementary approach in lieu of conventional surgery.

Value of Ultrasound in Diagnosing Perforation of Congenital Choledochal Cysts in Children.

OBJECTIVES: This study aimed to investigate the diagnostic value of ultrasound in children with perforation of congenital choledochal cysts. METHODS: Eligible patients recruited from January 2004 to December 2018 in our hospital were enrolled in this retrospective study. A total of 59 cases of congenital choledochal cysts with perforation were defined as the perforation group, and 100 cases of congenital choledochal cysts without perforation with similar symptoms were defined as the control group. Clinical features were analyzed and compared between the groups. The differential efficacy of varied diagnostic criteria was evaluated by a receiver operating characteristic analysis. RESULTS: Significant differences were found between the groups with respect to clinical characteristics (abdominal pain, vomiting, fever, and abdominal distention; all P < .01) and the disease onset age (P < .001), but the diagnostic efficacy of both was poor (both areas under the curve, <0.7). The interruption of bile duct continuity only occurred in the perforation group with high specificity of 100% but poor sensitivity of 18.6%. The discrimination of combined features was significantly better (area under the curve, 0.936) than that of the disease onset age and clinical characteristics, with observed sensitivity and specificity of 93.2% and 94.0%, respectively. CONCLUSIONS: Using specific features, ultrasound can effectively diagnose perforation of a congenital choledochal cyst in children.

Minimally invasive procedure for diagnosis and treatment of vallecular cysts in children: review of 156 cases.

PURPOSE: Vallecular cyst is an uncommon but potentially life-threatening disease. The aim of this study was to review the presentation, evaluation, and treatment of vallecular cysts in children. METHODS: Medical records of 156 patients treated for vallecular cysts between 2013 and 2016 were retrospectively reviewed. The patients were divided into four age groups for comparison of clinical data: A, < 1 month; B, 1-6 months; C, 7-12 months; and D, > 1 year. RESULTS: The median age of all patients (98 males and 58 females) was 12.1 months (range 1 day-11 years), including 21, 86, 21, and 28 patients in group A, B, C, and D, respectively. A diagnosis of vallecular cysts was made for 135 patients using a combination of flexible laryngoscopy and ultrasound, and ten patients (all in group A) required pre-surgery ventilation support. The most common symptoms were wheezing (59.6%) and stridor (36.5%). Ten patients experienced difficulty with intubation. Endoscopic-assisted transoral coblation marsupialization was performed for all patients, combined with supraglottoplasty for 41 out of 68 patients with concurrent laryngomalacia. Patients in group D had a longer operation time and higher incidence of intraoperative bleeding, two of whom experienced post-operation recurrence, and symptoms resolved after a second operation in both cases. CONCLUSIONS: Flexible laryngoscopy and ultrasound are recommended for a diagnosis in suspected cases of vallecular cysts. Coblation marsupialization has advantages of minor damage, low recurrence rate, and suitability for all age groups.

Ultrasonography with the colonic segment-approach for colonic polyps in children.

BACKGROUND: Ultrasonography (US) has been widely applied and has validated efficacy in the diagnosis of colonic polyps in children. However, little attention has been paid to improving the detection rate of polyps, optimizing the ultrasonic examination process and reducing misdiagnosis. OBJECTIVE: To investigate the diagnostic performance of the colonic segment-approach by US in the diagnosis of colonic polyps in pediatric patients. MATERIALS AND METHODS: One hundred fifty-nine patients who were going to have a colonoscopy from September 2014 to August 2016 were enrolled in this study. All patients received US before colonoscopy. In a preliminary study, 50 patients were chosen to determine the interobserver agreement, with half of the cases with and half of the cases without a colonic segment-approach. The other 109 patients were examined by both approaches. The sensitivity and the specificity of each approach were compared based on the outcome of colonoscopy as the gold criteria. RESULTS: The interobserver agreement was high (0.816 for the non-segmental approach, 0.754 for the colonic segment-approach). The diagnostic sensitivity of the colonic segment-approach was higher than that of the traditional approach (82.1% vs. 57.7%, P<0.05) with 89.3% vs. 64.2% detection rate of colonic polyps in the descending colon, 81.8% vs. 60.6% in the sigmoid colon, and 81.3% vs. 43.8% in the rectum, respectively. The specificity of both methods was 100% (95% confidence interval: 86.3%-100%). CONCLUSION: The US colonic segment-approach can improve diagnostic sensitivity for colonic polyps as a convenient method with no special requirement for equipment and examination conditions.

Oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor of the femur: A case report.

BACKGROUND: Oncogenic osteomalacia caused by phosphaturic mesenchymal tumors is very difficult to detect. We report a case of tumor-induced osteomalacia caused by a phosphaturic mesenchymal tumor of the left femur in a middle-aged woman after medical imaging and biopsy. CASE SUMMARY: A 57-year-old woman presented with progressive bone pain for five years. She was diagnosed with hypophosphatemic osteomalacia, as her laboratory data showed low serum phosphorus and low serum calcium. Her knee joint radiography revealed an osteolytic lesion of the left femur. A computed tomography scan showed mixed density shadows in the left femur. Magnetic resonance imaging of the left femur showed the presence of an oval area with a hypointense signal in T1-weighted magnetic resonance imaging (MRI) and high-low mixed signal in T2-weighted MRI. Biopsy samples revealed the presence of short spindle cells, vascularization, and characteristics of phosphaturic mesenchymal tumors. Tumor resection was performed, and the clinical presentations and laboratory abnormalities were reversed. CONCLUSION: Diagnosis of oncogenic osteomalacia is difficult due to the varieties and localization of source tumors and absence of pathognomonic biomedical signs. Our case highlights the importance of a combination of medical imaging and biopsy in the diagnosis of oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor.

Synergistic Viral Replication of Marek's Disease Virus and Avian Leukosis Virus Subgroup J is Responsible for the Enhanced Pathogenicity in the Superinfection of Chickens.

Superinfection of Marek's disease virus (MDV) and avian leukosis virus subgroup J (ALV-J) causes lethal neoplasia and death in chickens. However, whether there is synergism between the two viruses in viral replication and pathogenicity has remained elusive. In this study, we found that the superinfection of MDV and ALV-J increased the viral replication of the two viruses in RNA and protein level, and synergistically promoted the expression of IL-10, IL-6, and TGF-ß in chicken embryo fibroblasts (CEF). Moreover, MDV and ALV-J protein expression in dual-infected cells detected by confocal laser scanning microscope appeared earlier in the cytoplasm and the nucleus, and caused more severe cytopathy than single infection, suggesting that synergistically increased MDV and ALV-J viral-protein biosynthesis is responsible for the severe cytopathy. In vivo, compared to the single virus infected chickens, the mortality and tumor formation rates increased significantly in MDV and ALV-J dual-infected chickens. Viral loads of MDV and ALV-J in tissues of dual-infected chickens were significantly higher than those of single-infected chickens. Histopathology observation showed that more severe inflammation and tumor cells metastases were present in dual-infected chickens. In the present study, we concluded that synergistic viral replication of MDV and ALV-J is responsible for the enhanced pathogenicity in superinfection of chickens.

Substituent Effects on Cytotoxic Activity, Spectroscopic Property, and DNA Binding Property of Naphthalimide Derivatives.

A series of novel naphthalimide derivatives NI1-5 containing piperazine moieties (N-(2-hydroxyethyl)piperazine and 1-piperazinepropanol) and piperidine moieties (4-piperidinemethanol, 4-hydroxypiperidine and 4-piperidineethanol) have been synthesized and evaluated for their cytotoxic activity, spectroscopic property, and DNA binding behaviors. It was found that substituents at the 4-position remarkably influence the various activities of this series of compound. Compounds NI3-5 modified with piperidines exhibited potent cytotoxic activities against Hela, SGC-7901, and A549 cells with the IC50 values from 0.73 µm to 6.80 µm, which are better than NI1-2 functionalized with piperazines. Compounds NI1-2 showed higher binding capacity with Ct-DNA than compounds NI3-5 based on studies of UV-vis, fluorescence and CD spectra. Furthermore, compounds NI3-5, as DNA intercalators, showed fluorescence enhancement upon binding with Ct-DNA. More interestingly, fluorescence imaging studies of compound NI4 with A549 cells showed that the fluorescence predominantly appeared in the cytoplasm. These results provided a potential application of NI3-5 as anticancer therapeutic and cancer cell imaging agents.

[Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].

OBJECTIVE: To investigate the clinical value of multiplex ligation-dependent probe amplification (MLPA) in the prenatal gene diagnosis of high risk pregnant women from Duchenne muscular dystrophy (DMD) families. METHODS: The 155 high risk pregnant women from DMD families were recruited from 2005 to 2012 in 4 hospitals in Guangzhou, such as Southern Hospital of Southern Medical University and the Third Affiliated Hospital of Guangzhou Medical University. Among all the samples, 7 were chorionic villus samples taken from early-stage pregnancy and 148 were amniotic fluid samples from mid-stage pregnancy. After the maternal contamination was eliminated, the fetal DMD gene screening was carried out by using MLPA. The mutation rates in DMD exons were calculated in all the 155 families. RESULTS: (1) Among the 155 fetuses of the DMD high risk pregnant women, there were 72 male fetuses and 83 female fetuses. In the male fetuses, there were 27 sufferers (38%). In the female fetuses, there were 28 carriers (34%). And there were 100 normal fetuses. (2) Among the 27 DMD sufferers, 22 cases were DMD exon homozygous deletions (14.2%, 22/155) and 5 cases were DMD exon duplications (3.2%, 5/155). Among the 28 carriers, 25 cases were gene heterozygous deletions (16.1%, 25/155) and 3 cases were gene heterozygous duplications (1.9%, 3/155). In the 155 families, the DMD mutations mainly occurred in exons 45-52, and the exon 49 had the highest mutation rates of 22 times. (3) Among the 7 cases of prenatal gene diagnosis using chorionic villus samples, 2 fetuses had the identical DMD genotypes with their mothers and probands. One was a DMD sufferer and the other was a carrier. Termination or continuation of pregnancy was suggested based on the genotype of the fetus. CONCLUSIONS: MLPA provides an accurate method in the prenatal diagnosis of DMD. It could be used to distinguish DMD gene homozygous deletions from heterozygous deletions and duplications. Therefore, it is valuable for DMD prenatal diagnosis in high-risk women. Chorionic villus sampling can be applied to the early prenatal diagnosis for DMD disease.

Utilizing ultrasonography in the diagnosis of pediatric fibroepithelial polyps causing ureteropelvic junction obstruction.

BACKGROUND: Fibroepithelial polyps are a rare cause of ureteropelvic junction (UPJ) obstruction in children. Preoperative US diagnosis of fibroepithelial polyps is infrequently reported, with intravenous pylogram and retrograde pyelography being most commonly used for diagnosis. OBJECTIVE: To recommend the most accurate process for diagnosing this disease in children by assessing a modified ultrasonographic procedure for the diagnosis of fibroepithelial polyps. MATERIALS AND METHODS: A retrospective review of US and IVP imaging studies performed in surgically and histologically confirmed cases of fibroepithelial polyps in children. Each child was asked to drink as much water as possible 30 min before the US testing. For US, the renal pelvis, UPJ and the proximal ureter were inspected for an echogenic mass resulting in hydronephrosis. For IVP studies, abdominal plain films were performed at 7, 15 and 30 min following contrast injection. RESULTS: Thirty-five children, 34 boys and 1 girl, had confirmed fibroepithelial polyps. The children ranged in age from 3 to 14 years (mean age 9 years). Clinical presentation included intermittent vague abdominal pain (100%) and/or hematuria (9.7%) for a period ranging from 1 month to 5 years. Of the 35 children (37 polyps), 21 (23 polyps) were correctly diagnosed preoperatively with US, establishing a 62.2% (23/37) US accuracy rate. Twenty polyps were seen on the left, three on the right and two children had bilateral polyps. The masses were all mildly echogenic with defined edges. Eight children (9 polyps) had an IVP consistent with fibroepithelial polyps giving IVP an accuracy rate of 24.3% (9/37). CONCLUSION: US is an effective screening tool for identifying fibroepithelial polyps causing UPJ obstruction in children.

Ultrasonographic diagnosis of urinary calculus caused by melamine in children.

BACKGROUND: Intake of melamine can cause renal and ureteral lithiasis in infants and children. The present study aimed to understand the value of ultrasonography in the diagnosis of renal and ureteral lithiasis in infants and young children caused by melamine, and the characteristics of ultrasonograms of melamine-associated calculi. METHODS: Ultrasonographic examination on the urinary system was performed for 28 332 children who ingested milk powder that was possibly tainted with melamine; 395 of the children were diagnosed by ultrasonography as having urinary calculus, and 231 cases had lump-like calculi and 164 cases had sand gravel-like calculi. The features of the calculi, the sites of obstruction and the status of hydronephrosis and hydroureterosis were analyzed. Ultrasonographic reexamination was performed for 116 patients and the findings were compared with those of the first ultrasonography, and the short-term expulsion of the calculi was evaluated. RESULTS: Most of the 395 patients with urinary lithiasis, except for those who developed renal failure, had no symptoms. The whole profile of the calculi could be seen in most of the cases, because the echogenicity of the calculi with no sharp or absent acoustical shadowing, was weaker as compared with those from calcium-containing calculi. Comet tail sign could be seen behind the echogenicity of single gravel calculus. The rate of diagnostic consistency of ureteral lithiasis between the ultrasound and the results of clinical observation (including stones expelled spontaneously or after cystoscopic intervention) in 51 cases for 76 ureters was 100%. Percutaneous renal biopsy was performed for one case, and histopathological examination showed flocculent, fine strip-like, ellipse and circular deeply stained sand gravel-like material in the renal tubules, and the circular calculi were found to be attached to the walls of the tubules. Chemical analysis of the calculi expelled from 12 cases showed that the main contents of the calculi were uric acid and melamine. Short-term ultrasound reexamination in 116 patients showed that gravel-like calculi disappeared in 80.4% of the cases; in 26 non-hospitalized cases who had lump-like calculi without hydronephrosis or hydroureterosis, none of the lump-like calculi were expelled. CONCLUSIONS: The ultrasonographic findings of urinary calculi in children caused by ingestion of melamine-tainted milk powder have a certain features as compared to the calculi containing calcium. Careful ultrasound examination can avoid missed diagnoses of ureteral calculi. Most of the gravel-like calculi can be expelled within a short period of term, while lump-like calculi can hardly be expelled. Ultrasonography is an accurate and reliable method of diagnosis of urinary calculus caused by melamine intake in children and it can be used as diagnostic method of choice although abdominal X-ray plain film can also visualize some of larger calculi.

Costochondral changes in the chest wall after the Nuss procedure: ultrasonographic findings.

PURPOSE: The Nuss procedure is one of the most popular surgeries for correcting pectus excavatum. However, little is known regarding stress and strain on the deformed ribs after inserting the pectus bar. We used ultrasonography to investigate costochondral changes before and after the Nuss procedure. METHODS: Ninety-five patients underwent the Nuss procedure between July 2007 and February 2008 at 2 institutions. Chest ultrasonography, specifically of the bones and cartilage, was performed 1 day before and 1 week after the operation. RESULTS: Postoperatively, all patients showed various degrees of deformation from the second to sixth cartilages bilaterally. The cartilages were not fractured. Of these patients, 28 (29.5%) had significant changes, including acute angulation of the costochondral junction and rib fractures near the pectus bar. These changes were associated with increased age (P < .01) and the degree of postoperative sternum elevation (P < .01). The pectus index and sex were not significant predictors of rib damage. CONCLUSIONS: The Nuss procedure created significant stress and strain over the deformed cartilages. Approximately 29% of the patients showed localized, self-limited costochondral changes via chest ultrasonography.