Neonatal hyperinsulinism/hyperammonemia syndrome is a genetic disease result from glutamate dehydrogenase gene mutations.The clinical manifestations are hypoglycemia,hyperinsulinemia and mild hyperammonemia.Hypoglycemia may occur quickly due to eating protein.It is a rare neonatal disease that was easily ignored or delayed diagnosis and treatment causing serious sequelae of nervous system.This review summarized pathogenesis,clinical manifestation and diagnosis of the disease.

Purpose To investigate the 18F-FDG PET/CT manifestation ofextranodal NK/T-cell lymphoma (ENKTCL) for providing important reference for the early diagnosis,accurate staging and guiding treatment of the disease.Materials and Methods The imagings and clinical data of twenty-six patients with nasal ENKTCL were analyzed retrospectively.The diagnosis was confirmed by pathological biopsy and immunohistochemistry.The distribution and metabolic signs of the lesions were summarized,and the influence of PET/CT on nasal ENKTCL staging was analyzed.Results Totally 102 positive lesions were detected in 26 patients.The SUVmax of all lesions was 12.2±5.4 (3.2-28.5).The primary lesions were mainly located in the nasal cavity (16/26,61.5％).Facial soft tissue and paranasal sinus tissue involvement were most common adjacent invasions.The distribution of the remaining affected tissues and organs in the whole body showed no obvious regularity.Lymph node involvement was most common in cervical lymph nodes.The lesion detection rates of PET/CT and conventional imaging (plain scan/enhanced CT,plain scar/ enhanced MRI,ultrasound,etc.) in lymph node and extranodal organ involvement were 96.7％ and 65.5％,respectively,and the accuracy of staging were 92.3％ and 73.1％,respectively.Clinical stages were changed in 15 patients (57.7％)because of PET/CT examination,among which,the staging was improved in twelve cases for finding more lesions,the staging of the suspicious lesions were reduced and the nature was defined in three cases because of their lack of metabolism on the PET/CT,and the treatment plan was affected in nine cases for staging adjustment.Conclusion 18F-FDG PET/CT can accurately show the distribution of nasal ENKTCL lesions.Compared with the conventional imaging methods,more lymph nodes and extranodal organ involvement can be detected by 18F-FDG PET/CT,which makes the staging more accurate and guides the clinical treatment more effectively.

Objective:To explore the correlations between 11C-2β-carbomethoxy-3β-(4-fluorophenyl)tropane (CFT) microPET/CT imaging and the degree of damage to dopamine neurons in the substantia nigra of midbrain and the severity of Parkinson′s disease (PD). Methods:Sixty male Sprague-Dawley (SD) rats were divided into PD model group ( n=48) and control group ( n=12) by random number table method. The PD model was established by injecting 6-hydroxydopamine (6-OHDA) into the right striatum. The rotational behavior test and 11C-CFT microPET/CT imaging were performed at 1, 2, 3 and 4 weeks after the establishment of PD model. The radioactivity uptake values of bilateral striatum were analyzed and the radioactivity uptake ratio of injured side to healthy side was calculated. The number of tyrosine hydroxylase (TH) immunoreactive positive neurons in the pars compacta of substantia nigra was counted by immunofluorescence staining, and the ratio of total number of TH positive neurons in injured side to healthy side was calculated. Data were analyzed by one-way analysis of variance, the least significant difference t test and Pearson correlation analysis. Results:At 1, 2, 3 and 4 weeks after the establishment of PD model, the rotation speed of PD model to the healthy side was (4.55±1.37), (8.64±1.64), (9.96±1.83) and (11.67±2.77) r/min, respectively, while there was no rotation behavior in the control group. Meanwhile, the ratios of 11C-CFT uptake and the number of TH positive neurons in the PD model group were 0.658±0.038, 0.580±0.094, 0.513±0.042, 0.394±0.065 and 0.698±0.066, 0.604±0.062, 0.546±0.064, 0.315±0.082, respectively, which were significantly lower than those in the control group (0.997±0.048 and 0.996±0.054; F values: 167.50, 169.20, both P<0.05). Correlation analysis showed that 11C-CFT uptake ratio was correlated with rotation behavior (rotation speed) and TH positive neuron ratio ( r values: -0.877, 0.897, both P<0.001). Conclusion:In the PD animal model, the ratios of 11C-CFT uptake has a good correlation with the degree of damage to dopamine neurons in the substantia nigra of the midbrain (TH positive neuron ratio) and the severity of PD.

ObjectiveTo analyze the clinical characteristics of inflammatory bowel disease (IBD) in neonates.MethodsFrom July 2010 to July 2015, seven neonates were diagnosed with IBD in Affiliated BaYi Children's Hospital, Clinical Medical College in Chinese People's Liberation Army General Hospital, Southern Medical University. The data regarding these neonatal cases were analyzed and compared with 45 children with IBD from literature. Thet-test andChi-square test were used for statistical analysis of the data.ResultsSix cases had ulcerative colitis, and one case had Crohn's disease, both occurred 2-20 days after birth, and were characterized by diarrhea, no increase in body weight, anemia and intermittent higher hypersensitive C-reactive protein. Compared with IBD in children, abdominal pain and abdominal mass were rarer, while anemia was more common in neonatal IBD. All fecal cultures and blood cultures in the seven cases of neonatal IBD were negative. Abdominal X-ray revealed intestinal wall thickening in four cases. Multiple ulcers were observed from the cecum to the rectum by colonoscopy. Chronic intestinal mucosal inflammation associated with acute inflammation were found on pathological examination. Six infants received treatment with 5-aminosalicylic acid (combined with glucocorticoid in four cases), and one received glucocorticoid treatment only. One infant was started on infliximab treatment from two years old. One of these seven cases died one month after discharge due to refusal to continue treatment, and the disease was controlled in the other six cases. After treatment, one infant was lost to follow-up six months after discharge, two were cured at six and 12 months old without further treatment, and three improved and continued treatment.ConclusionsIn neonates with diarrhea, anemia and no increase in body weight, especially when antibiotic treatment is ineffective, colonoscopy should be performed to facilitate early diagnosis of IBD. Standard treatments result in good outcomes.

Objective To explore the diagnostic value of 18F-FDG PET/CT in primary peritoneal papillary serous carcinoma (PPPSC).Methods Ten postmenopausal female cases of pathologically diagnosed PPPSC from March 2009 to October 2011 were retrospectively reviewed (age range:61-81 years,mean:(69.4±6.2) years).All cases underwent 18F-FDG PET/CT.The CT characteristics and SUVmax of lesions on PET images were analyzed.Serum CA125 levels were measured before or after PET/CT within one week.The patterns of PPPSC on PET/CT were compared with histopathological results.Linear correlation analysis was used to evaluate the correlation between the CA125 and the maximum SUVmax of lesions presented in parietal peritoneum,greater omentum or mesentery.Results The PET/CT uptake pattern of the 10 PPPSC cases was described as floccus,multi-nodular or cake-like in greater omentum (SUVmax =6.32±2.87),and as diffuse or localized nodules,or non-uniform strip-like thickening in 9 parietal peritoneum and 8 mesentery cases (SUVmax =5.96±2.14 and 5.70± 1.69,respectively).The most commonly involved sites were pelvic wall of peritoneum and mesentery of small intestine.All 10 cases had different degrees of ascites,mainly intrapelvic and perihepatic.Hypermetabolic ovarian enlargement (all ＜5 cm) was bilateral in 2 patients and right-sided in 1 patient.Four patients had retroperitoneal lymph node metastasis and others were found with punctate calcifications in metastatic lymph nodes,small pleural effusions,liver metastasis,as well as portal node metastasis.CA125 concentration was elevated in all cases ((51.25±26.40) ×104 U/L),but there was no significant correlation between CA125 and the maximum SUVmax of lesions found in parietal peritoneum,greater omentum or mesentery (r=0.05,P＞0.05).Conclusion 18F-FDG PET/CT could show the positions and metabolic status of PPPSC lesions.It may be an effective imaging modality in the diagnosis and assessment of PPPSC.

OBJECTIVE: To introduce the efficacy of three surgical options for juvenile nasopharyngeal angiofibroma (JNA) resection, and causes of operative bleeding. METHOD: Retrospective analysis of 36 JNAs,three surgical options were used to resect the tumor. There were 15 cases of Class I tumors , using endoscopic nasal cavity approach. Eighteen cases of class II tumors, via extended Caldwell-Luk incision, using the transantral-infratemporal fosse-nasal cavity combined approach for tumor resection. Three cases of class III tumors, the combined intracranial and extra-cranial approach was used to resect the tumor. Meanwhile, report six typical cases for reference. RESULT: Fifteen (15/36) cases of class I tumors, 14 cases were completely resected for the first time without recurrence, 1 recurrence case was re-resected using the same approach. Eighteen (18/36) cases of class II tumors, 13 cases were completely resected for the first time without recurrence, 5 recurrence cases were re-resected totally. Three (3/36) cases of class III were not completely removed, and underwent about 40 Gy radiotherapy with good effects. CONCLUSION Using these three surgical options can effectively remove different types of JNA. When necessary, the intracranial residue can use radiotherapy. Under direct vision to separate the tumor, and effective hemostasis play crucial roles for complete removal of the tumor.
Adolescent ; Angiofibroma ; surgery ; Blood Loss, Surgical ; Child ; Female ; Humans ; Male ; Nasopharyngeal Neoplasms ; surgery ; Retrospective Studies ; Treatment Outcome ; Young Adult

AIM: To establish a cell line of stable silencing of P2X7 receptor (P2X7R) expression through short hairpin RNA ( shRNA)-mediated interference in murine RAW264.7 macrophages, and to investigate the proliferation and apoptosis in the cell line.METHODS:Stable silencing of P2X7 R gene in the RAW264.7 cells was achieved by re-combinant shRNA plasmid targeting murine P2X7 R gene via liposome mediated transfection, followed by G418 selection. The efficacy of plasmid transfection and P2X7 R silencing in G418 resistant cells was verified by immunofluorescent micros-copy and real-time PCR, respectively.The proliferative activity was analyzed by CCK-8 assay and EdU cell proliferation as-say.The cell cycle distribution and apoptosis were evaluated by flow cytometry.RESULTS:The expression of P2X7 R at mRNA and protein levels was down-regulated by 80% in shP2X7 R group compared with negative control ( NC) plasmid transfection.In addition, P2X7 R-silencing cells exhibited higher proliferative activity compared with NC and wild-type RAW264.7 cells (P<0.05).Compared with NC cells, P2X7R silencing resulted in an increase in the phagocytosis of the cells ( P<0.05) .CONCLUSION:A cell line RAW264.7 of stable silencing of P2X7 R expression was successfully es-tablished.P2X7 R gene silencing stimulates the proliferation, and changes phagocytic function in murine RAW264.7 macro-phages.

Objective Pneumosilicosis is characterized by pulmonary fibrosis and cannot be effectively treated at present. This study was to explore the changes of monocyte subsets in the mouse model of silicon dioxide-induced experimental pneumosilicosis and the correlation of the changes with lung inflammatory injury and pulmonary fibrosis. Methods A total of 100 male C57BL/6J mice weighing 18-22 g were equally randomized into a normal saline (NS) group and a silicon dioxide (quartz) group.The model of experimental pneumosilicosis was established by oropharyngeal aspiration of quartz suspension.At 1, 3, 7, 14, and 28 days after treat-ment, the mice were sacrificed and the proportions of different circulating monocyte subpopulations determined by flow cytometry.Dif-ferent types of inflammatory cells in the bronchoalveolar lavage fluid ( BALF) were routinely counted.The inflammation score and col-lagen volume fraction ( CVF) of the lung tissue were obtained by HE and picrosirius red staining. Results At 7 days after quartz treatment, silicotic nodules were observed in the lung tissue.Compared with the NS controls, the model mice showed significantly in-creased inflammation score and CVF at 7 days (0.920 ±0.049 vs 1.400 ±0.089, P<0.01;0.525 ±0.048 vs 1.950 ±0.065, P<0.01) and 28 days (0.800 ±0.089 vs 1.520 ±0.136, P<0.01;0.850 ±0.050 sv 5.300 ±0.776, P<0.01).In comparison with the NS group, the quartz group also exhibited significant increases in the number of total cells at days 1-28 (P<0.01) and the count of neutrophils at days 1-14 (P<0.01) in the bronchoalveolar lavage fluid (BALF) of the model mice, as well as in the number of macrophages in the BALF at 3 days (0.980 ±0.663 vs 6.821 ±2.627, P<0.01), 7 days (1.225 ±0.601 vs 6.697 ±1.864, P<0.01), 14 days (1.492 ±0.438 vs 2.574 ±0.396, P<0.01), and 28 days (2.035 ±0.456 vs 3.249 ±0.492, P<0.01).The count of neutrophilic granulocytes in the BALF was remarkably higher in the quartz than in the NS group at 1, 3, 7, and 14 days (P<0.01) but not at 28 days (P>0.05).Compared with the NS controls, the quartz-treated mice showed markedly increased proportion of Ly6Chimonocytes at all time points, which peaked at 7 days (58.750 ±2.386 vs 78.300 ±2.517, P<0.01), with a positive corre-lation with the inflammation score (P<0.01) and CVF of the lung tissue (P<0.01) at 7 and 28 day. Conclusion The propor-tions of circulating Ly6Chi and Ly6Clo monocytes changed dynamically in the murine model of quartz-induced experimental pneumosilico-sis.The increased proportion of the Ly6Chi monocyte subpopulation might be closely related with lung inflammatory injury and pulmona-ry fibrosis in pneumosilicosis.