The immunoregulatory effect of thalidomide on peripheral blood mononuclear cells in patients with thyroid-associated ophthalmopathy (TAO) was investigated.The resuhs showed that thalidomide (50 μg/ml)inhibited the proliferation of PBMC significantly.Thalidomide inhibitied tumor necrosis factor-α,IFN-γ,and interleukin-6 secretion,as well as mRNA expressions.

Aged ; Female ; Fluorobenzenes ; therapeutic use ; Humans ; Hyperlipidemias ; blood ; drug therapy ; genetics ; Polymorphism, Genetic ; genetics ; Pyrimidines ; therapeutic use ; Rosuvastatin Calcium ; Sulfonamides ; therapeutic use

[Summary] The efficacy of the combining therapy of methylprednisolone and methotrexate on the Graves ophthalmopathy ( GO) was observed. Whether selenium supplement is beneficial based on this combining therapy scheme was evaluated. The results showed that the combining therapy of methylprednisolone and methotrexate was effective for the patients with moderate-to-severe GO. Selenium supplement did not further improve the remission of GO.

Objective To investigate the treatment and prevention strategies of hematomas in operation area after anterior approach surgery for cervical spondylosis.Methods A retrospective review was conducted on 12 with hematoma compression in operation area out of 785 patients managed by anterior cervical surgery from January 2007 to July 2013,including 10 males and 2 females at age ranging from 40-71 years (mean 56.8 years).Surgery method was anterior cervical corpectomy and interbody fusion using titanium mesh cage plus plate and intraoperative blood loss was 300-1 200 ml.Primary clinical manifestations were neurological dysfunction in 5 patients,dyspnea in 6,and both neurological dysfunction and dyspnea in 1.There were 10 patients with the presence of symptoms at postoperative 0.5-22 hours,1 at postoperative 73 hours,and 1 at postoperative 74 hours.All the 12 patients underwent a second anterior cervical exploration.Results There were 5 patients with epidural hematoma,6 with subcutaneous hematoma,and 1 with both hematomas.After surgical interventions,the patients presented improvement in respiratory and neurological function,with inapparent respiratory abnormality and improved neurological function at discharge.One patient was died of cardiovascular-associated disease after being discharged from hospital.The left 11 patients were followed up for mean 19.8 months (range,6-43 months),with improved Japanese Orthopedic Association (JOA) score at final follow-up.Conclusions Hematoma took place frequently in the early period,especially within 24 hours in operation area after anterior approach to cervical disorders and close attention should be paid to respiratory and limb sensation and motion functions.Early detection and early surgical interventions are the key countermeasures to avoiding the severe results.

Objective To investigate the methods and effects of posterior fixation and fusion in treatment of complete thoracolumbar fracture and dislocation.Methods The study enrolled 8 cases of complete thoracolumbar fracture and dislocation treated by posterior fixation and fusion with pedicle screwrod system between January 2006 and December 2012.There were 7 males and 1 female,at mean age of 31.9 years (range,19-49 years).Mean time interval between injury and surgery was 8.1 days (range,4-12 days).Fracture-dislocation classification was AO type C,Denis three-column injury,and Meyerding grade V.According to American Spinal Injury Association (ASIA),there 5 cases at grades A,1 at grade B,1 at grade C 1 at grade E.Fracture-dislocation segments included T5-T6 in 1 case,T12-L1 in 3,L1-L2 in 2,L3-L4 in 1 and L4-L5 in 1.Results Mean duration of surgery was 220.6 minutes (range,135-335 minutes) and mean intraoperative blood loss was 1 150 ml (range,500-2 400 ml).Seven cases sustained dural laceration during the operation,which were sutured or covered with autologous fat grafts,but 3 of them were subjected to cerebrospinal fluid leakage and healed after conservative therapy.Anatomic reduction was achieved in 6 cases,partial reduction in 1 and non-reduction in 1.Mean Cobb angle improved from 29.3 ° (range,8 °-51 °) preoperatively to 1.9 ° (range,-5°-10 °) postoperatively.After a mean follow-up of 39.3 months (range,2-76 months),2 cases were recovered from preoperative ASIA grade A and B to C respectively and 6 cases (4 A,1 C,1 E) revealed no significant improvement.There was no implant loosening or breakage.One case was died of lung-related complications at postoperative 4 years.One case sustained lumbar deep infection at postoperative 3 weeks and managed by debridement,irrigation,drainage and implant retention.Conclusion Posterior fixation and fusion is the general treatment principle for complete thoracolumbar fracture and dislocation,but the degree of reduction depends on severity of the injured spinal cord.

Objective To investigate the prevalence,clinical classification,treatment and prognosis of neonatal hyperphenylalaninemia(HPA) in Xuzhou area,China.Methods Infants born between July 1,2003 and July 1,2015 in Xuzhou area were investigated.Heel blood samples of neonates were collected at 72 hours after birth,and the concentration of blood phenylalanine(Phe) was determined by fluorescent quantitative method in Xuzhou Maternity and Child Health Care Station Neonatal Disease Screening Center.Differential diagnosis was performed in all 265 cases diagnosed as HPA by urinary pterin analysis and dihydropteridine reductase activity determination.The blood Phe concentration and mental development were followed up regularly in infants with HPA.Mutations of phenylalanine hydroxylase (PAH) gene were analyzed by gene sequencing.The relationship between blood Phe concentration and mental development was analyzed by Bivariate correlation analysis.Results (1) The prevalence of HPA in neonates in Xuzhou was 1/4 635.Among the 265 confirmed HPA cases,260 cases(98.11％) had PAH deficiency,including 90(33.96％) classical phenylketonuria(PKU),84(31.70％) mild PKU and 86(32.45％) mild HPA.The other five patients(1.89％) diagnosed with tetrahydrobiopterin (BH4) deficiency all had 6-pyruvoyl tetrahydropteim synthase(PTPS) deficiency.(2) Among the 265 HPA cases,26 cases refused any treatment,including five cases of PTPS deficiency and 21 cases of PKU.Of the five patients with PTPS deficiency,two died and the other three had normal mental and physical development.Twenty-one PKU patients who refused treatment had mental retardation of various degrees.Among 153 PKU patients who received medical treatment,three died and 12 were lost to follow-up.(3) For 138 PKU patients who received dietary treatment and follow-up,the ages at the last visit were two months to 12 years,116 of them had normal mental development,the remaining 22 patients had mental retardation,and a negative correlation was observed between mental development and the average Phe concentration.(4) Thirty-five patients with PAH deficiency underwent gene sequencing,and 22 kinds of mutations of PAH gene were detected.Conclusions The prevalence of HPA in Xuzhou area is higher than the average national level.With early diagnosis and standard treatment,most of PKU neonates can have normal mental development.Phe level control is an important factor for mental development.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Hypothalamic Neoplasms ; pathology ; radiotherapy ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pituitary Neoplasms ; pathology ; radiotherapy

Lesch-Nyhan syndrome(LNS) is a congenital X-linked recessive inherited disorder caused by mutations in the hypoxanthine guanine phosphoribosyl transferase (HPRT) gene.A deficiency of the HPRT enzyme is responsible for the disease.The main clinical manifestation includes hyperuricemia, juvenile-onset gouty arthritis and neurological developmental disorders.Studies have reported there are more than 400 HPRT gene mutation sites, but the incidence of LNS in the Chinese population is extremely low.Here we report a 16-year-old male patient who suffered neurological dysfunction at an early age and gouty arthritis in his youth.DNA of patient and his family members were extracted from peripheral blood lymphocytes.The coding region and the intron-exon boundaries of HPRT gene were sequenced by standard methods.We found a mutation in exon 3 of the HPRT gene of the patient and his mother (Exon3:c.143G>A), which resulted in an arginine to histidine (p.R48H) substitution in the encoded protein.No activity of the enzyme HPRT was detected in the erythrocytes.The same mutation was reported in several European families, but was found in Chinese family for the first time.Clinicians in China have poor experience in diagnosing LNS case, due to the low incidence in China.Therefore LNS screening for infants or adolescents with hyperuricemia, gouty arthritis and neurological dysfunction should be performed.

Objective • To investigate the effect of V-set domain containing T cell activation inhibitor 1 (VTCN1) on long noncoding RNAs (lncRNAs) and mRNAs expression in colon cancer cells. Methods • VTCN1 was overexpressed by lentivirus plasmid in colon cancer cell line SW1116. RNA was extracted and sequenced. The differentially expressed lncRNAs and mRNAs were compared with the negative control group. The accuracy of RNA sequencing was verified by real-time quantitative PCR (qRT-PCR) using three differentially expressed lncRNAs and two mRNAs. BLAST2GO and Kyoto Encyclopedia of Genes and Genomes (KEGG) were used to analyze and predict the functions of these differentially expressed lncRNAs and mRNAs. The online platform GEPIA18 (Gene Expression Profiling Interactive Analysis) was used to analyze the correlation between differentially expressed lncRNAs and survival of patients with colorectal cancer. Results • A total of 167 differential genes, i.e., 39 lncRNAs and 128 mRNAs, were identified by RNA sequencing in VTCN1 overexpressed SW1116 cells. The results of qRT-PCR were consistent with those of RNA sequencing. Bioinformatics analysis showed that these different genes regulated by VTCN1 may be involved in endoplasmic reticulum protein processing and RNA monitoring signaling pathways. In addition, three lncRNAs (DNA JC9-AS1, HCG27, and RP11-339B21.13), which were significantly up-regulated in colorectal cancer cells overexpressing VTCN1, were also independent predictors of overall survival of colorectal cancer patients. Conclusion • In colon cancer cells, VTCN1 regulates several downstream lncRNAs and mRNAs, which may be involved in endoplasmic reticulum protein processing and mRNA monitoring signaling pathways.

Objective • To investigate the clinicopathological features, diagnosis and prognosis of rectal neuroendocrine neoplasms (R-NENs). Methods • The clinical data of 113 cases of R-NENs, from January 2008 to June 2017, were collected in Renji Hospital, Shanghai Jiao Tong University School of Medicine, and the clinicopathological features and prognostic factors were retrospectively analyzed. The expression of synapsin (Syn), neural cell adhesion molecule (CD56), and chromogranin A (CgA) were observed by immunohistochemistry in the R-NENs specimens. The specimens were also observed after hematoxylin-eosin staining. Results • In 113 cases of R-NENs, there were 59 males and 54 females, and their ages ranged from 25 to 83 with an average age of (52.3±13.3) years old. All the patients had no obvious clinical manifestations. The main symptoms included changes in bowel habits (21.3%), abdominal pain (8.9%) and anal symptoms (6.2 %), and 63.7% of cases were found in routine medical examinations. The R-NENs were diagnosed as G1 (79.6%), G2 (11.5%), and G3 (8.8%). Immunohistochemistry results demonstrated that 94.7% of tumors were positive for Syn, 80.9% for CD56, and 48.6% for CgA. Till November 2017, the median survival time was 33.10 months (0.40-114.67 months), with 1-year, 3-year, and 5-year survival rates of 93.8%, 90.0%, and 85.9%, respectively. The pathological grade, depth of tumor invasion, lymph node metastasis or distant metastasis, tumor size, and age were all associated with prognosis of patients with R-NENs. Conclusion • Most of R-NENs are low-grade malignant tumors with good overall prognosis and have a lack of specificity in clinical manifestations.