Objective To detect the mutations in RECQL4 gene in a Chinese patient with Rothmund- Thomson syndrome (RTS). Methods Blood samples were collected from a sporadic patient with RTS, his unaffected parents and 30 unrelated population-matched controls. DNA was extracted, and all the coding sequences of RECQL4 gene were amplified by PCR. Direct sequencing was performed with the amplicons to detect the possible mutations in these subjects. Results Two mutations, i.e., IVS11-1G > A and 3401 A >T, which resulted in a premature termination codon at amino acid 560, were found in the RECQL4 gene of the patient. His father was heterozygous for IVS11-1G > A, and his mother for 3401 A>T. Meanwhile, neither of the two mutations were observed in 30 unrelated normal control individuals. Conclusion Two mutations, including IVS11-1G>A and 3401 A>T are present in the RECQL4 gene of the sporadic patient with RTS.

Objective:To investigate whether the changes of anterior arch dimension have an impact on the precision of Bolton analysis. Methods:A mathematic-geometric model was used to evaluate the data. Results:The ideal anterior tooth size ratio may need adjustments, depending on the dimensions in radii of the upper and lower anterior dental arches. The ideal ratio is lower for dental arches with a high anterior curvature. There is a deficiency in the upper arch, a flatter anterior segment may compensate for some of the discrepancy and vice versa. Conclusion:An ideal Bolton value may not guarantee an ideal occlusion. Anterior tooth size ratio is not precise in predicting the anterior inter relationship post-treatment.

Actins ; metabolism ; Angiomyoma ; metabolism ; pathology ; Antigens, CD34 ; metabolism ; Diagnosis, Differential ; Female ; Forearm ; Hemangioma ; metabolism ; pathology ; surgery ; Histiocytoma, Benign Fibrous ; metabolism ; pathology ; Humans ; Middle Aged ; Platelet Endothelial Cell Adhesion Molecule-1 ; metabolism ; Skin Neoplasms ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Objective:To explore the correlation between the characteristics of contrast-enhanced sonography of intraoperative glioblastoma multiform (GBM) and molecular markers of isocitrate dehydrogenase-1(IDH1).Methods:A retrospective analysis were performed in 30 patients who underwent neurosurgery and pathologically confirmed to be GBM at Beijing Tiantan Hospital from May 2018 to April 2019. All neurosurgical glioblastoma patients after craniotomy underwent conventional ultrasound and contrast-enhanced ultrasound(CEUS) guided navigation. The characteristics of the ultrasound imaging (whether the tumor involves the structure of the corpus callosum, the clarity of the tumor boundary after enhanced ultrasound and whether the tumor has necrotic areas with enhanced ultrasound images) were analyzed. The ratio between tumor necrosis area and whole tumor area (N/W) was measured, and the correlation with IDH1 gene expression was analyzed.Results:There were statistical differences in clarity of tumor boundary after CEUS and tumor necrosis after CEUS between positive IDH1 and negative IDH1 groups(all P<0.05). The positive expression of IDH1 was negatively correlated with the N/W area of the contrast-enhanced ultrasound mode( r=-0.756, P<0.05), suggesting that the expression level of IDH1 gene was negatively correlated with the area of tumor necrosis. Conclusions:Ultrasound contrast agent examination can more accurately distinguish the active proliferation area, hemorrhagic necrosis area and peripheral edema area of glioblastoma. Accurately identifying the extent of tumor necrosis area through ultrasound contrast agent examination can predict expression of IDH1.

Antibody-drug conjugate (ADC) has become an effective method for treating various diseases, especially cancer, due to its clear target and good selectivity in clinical practice. However, the monoclonal antibodies in traditional ADC have poor tissue permeability, high modification costs, pose risks such as immunogenicity and immunotoxicity. The nanobody (Nb) which is extracted from the blood of camel animals, is the smallest antibody fragment known to have complete antigen binding ability. It has advantages such as strong tissue permeability, strong specificity, low immunogenicity, and high stability, and can replace traditional monoclonal antibodies to participate in the construction of nanobody-drug conjugate (NDC). This article reviews and discusses the advantages of Nb structure, the construction and application of NDC in the hope of providing ideas for the research and development of NDC.

OBJECTIVETo analyze the imaging features of osteopoikilosis and its diagnosis knowledge.

METHODSThe imaging data of 9 patients with osteopoikilosis were analyzed retrospectively, including 6 familial cases and 3 sporadic cases. In 6 familial cases,there were 4 males and 2 females with an average age of 28 years old ranging from 10 to 63 years. Clinical manifestations of 1 familial case were left knee pain and limitation of activity for 3 years, and other 5 cases without clinical manifestation. In 3 sporadic cases, there were 2 males and 1 female with an average age of 33.7 years old ranging from 25 to 44 years. Three sporadic cases had obvious injury history with following up from 6 to 12 months. All imaging results of 9 cases were observed.

RESULTSThe imaging data of 6 familial osteopoikilosis showed the multiple round or oval nodes within bone with clear margins, uniform density, different size. The occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and carpus and tarus. X-ray features of 3 sporadic osteopoikilosis were similar to that of 6 familial cases and for 6 to 12 months follow-up X-ray features were unchanged.

CONCLUSIONThe imaging features of osteopoikilosis are relatively specific such as the multiple mottling dense focal within bone with clear border and bilateral symmetry, and the focus located on cancellous bone and the diaphyses usually is unaffected. The imaging is a valuable examination for the accurate diagnosis of osteopoikilosis.

Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Osteopoikilosis ; diagnosis ; diagnostic imaging ; Pedigree ; Radiography ; Young Adult

Objective To explore the clinical effect of sitagliptin combined insulin compared to those patients whose sugars were not well controlled by insulin alone.Methods The eighty type 2 Diabetes patients whose BMI≥24 kg/m2 and used insulin alone were randomly divided into sitagliptin combined insulin group (40 cases) who were given sitagliptin 100mg/d allied with insulin,an insulin group (40 cases) who were given insulin alone.After 12 weeks,the change of body mass index (BMI),fasting plasma glucose (FPG),2 h postprandial blood glucose (2 h PBG),glycosylated hemoglobin (HbA1 c),β-cell function index(HOMA-β),insulin resistance index (HOMA-IR),insulin quantities,and hypoglycemia rates were observed in two groups.Results Compared with pretherapy,the levels of FPG,2 h BG,HbAlc,HOMA-IR,and hypoglycemia rates were significantly decreased (P ＜0.05) ; BMI was increased in insulin group,while was not increased in sitagliptin combined insulin group.After the treatment,the insulin quantities were decreased in the combined group while increased in the control group (P ＜ 0.05).Conclusions Sitagliptin combined insulin can effectively control glucose levels of type 2 diabetes patients,decrease the insulin quantities and the risk of hypoglycemia,and does not increase the weight.

Objective:To investigate the effects of electroacupuncture (EA) at Neiguan (PC 6) and Baihui (GV 20) by observing the changes of CCAAT/enhancer-binding protein(C/EBP) homologous protein (CHOP) and caspase-12 gene expressions in rats after cerebral ischemia-reperfusion injury (IRI), and explore whether the apoptosis pathway of endoplasmic reticulum stress (ERS) is involved in the protective mechanisms of EA.
Methods:Sixty rats were randomly assigned to five groups (12 in each group): a normal control group (group A), a sham-operation group (group B), an operation group (group C), an Edaravone group (group D) and an EA group (group E). The cerebral IRI rat model was induced by middle cerebral artery occlusion (MCAO) using intraluminal monofilament. 2,3,5-triphenyl tetrazolium chloride (TTC) staining was adopted in the measurement of cerebral infarction volume. Real-time polymerase chain reaction (RT-PCR) was used to determine the mRNA expressions of CHOP and caspase-12.
Results: Compared with group A and group B, the volume of cerebral infarction and mRNA expressions of CHOP and caspase-12 in group C, group D and group E were increased, with statistical significances (P<0.05 orP<0.01); compared with group C, the volume of cerebral infarction and mRNA expressions of CHOP and caspase-12 in group D and group E were decreased significantly (P<0.05 orP<0.01); there were no significant differences between group D and group E in comparing the above items (P>0.05).
Conclusion:EA at Neiguan (PC 6) and Baihui (GV 20) can effectively suppress the volume of cerebral infarction. Furthermore, the underlying mechanism of EA at Neiguan (PC 6) and Baihui (GV 20) is possibly related to the down-regulation of CHOP and caspase-12 mRNA expressions, so as to decrease cell apoptosis.

Objective To evaluate the relationship between cold hyperalgesia and trafficking of transient receptor potential melastatin 8 (TRPM8) to cell membrane in the dorsal root ganglion (DRG) of rats with neuropathic pain (NP).Methods Ninety-six healthy male Sprague-Dawley rats,aged 10-12 weeks,weighing 250-280 g,were divided into sham operation group (S group,n=48) and NP group (n =48) using a random number table.NP was produced by chronic constriction injury to the sciatic nerve.The number of paw lifts on the cold plate and mechanical paw withdrawal threshold (MWT) were measured on 1 day before operation and 1,4,7,10 and 14 days after operation.Rats were sacrificed after behavioral testing,and ipsilateral DRGs of the lumbar segment (L46) were dissected tor detection of the expression of TRPM8 in total and membrane proteins by Western blot,and the ratio of TRPM8 expression in the membrane protein to that in the total protein (m/t ratio) was calculated.Results Compared with group S,the number of paw lifts on the cold plate was significantly increased,the MWT was decreased,the expression of TRPM8 in total and membrane proteins was up-regulated,and m/t ratio was increased on postoperative days 4,7,10 and 14 in group NP (P＜0.05 or 0.01).In group NP,the number of paw lifts on the cold plate was gradually increased with the prolongation of time after operation and reached the peak on postoperative day 10,maintaining at the peak until postoperative day 14;the MWT was gradually decreased and reached the lowest level on postoperative day 10,maintaining at the lowest level until postoperative day 14;the expression of TRPM8 in total and membrane proteins and m/t ratio were gradually increased with the prolongation of time after operation and reached the peak on postoperative day 10,maintaining at the peak level until postoperative day 14 (P＜0.01).Conclusion The mechanism underlying the development of cold hyperalgesia is related to enhanced trafficking of TRPM8 to cell membrane in DRGs of rats with NP.

Objective To investigate the effect of Suanzaoren Decoction on hippocampus, cortex BDNF and TrKB gene expression in depression model rats. Methods Depression rat models were established by social-isolated raise and chronic stress stimulation. Suanzaoren decoction was administrated to the models. RT-PCR was adopted to detect the expression of mRNA BDNF and TrKB genes. Results The mRNA expression of BDNF and TrKB in cortex of Suanzaoren decoction high dose group、medium dose group and clomipramine group(0.213±0.094, 0.639±0.023, 1.032±0.015, 1.089±0.014, 1.580±0.012, 1.860±0.019)were all higher than the model group(0.032±0.008, 0.001±0.000), showing a significant difference among four groups (P<0.01), and the mRNA expression of BDNF and TrKB in hippocampus of Suanzaoren decoction high dose group, medium dose group and clomipramine group(0.213±0.094, 0.639±0.023, 1.032±0.015, 1.089±0.014, 1.580± 0.012, 1.860±0.019)were higher than the model group (0.021±0.015, 0.125±0.013), there was a significant difference between four groups(P<0.01). Compared with the model group, the mRNA expression of low-dose group of Suanzaoren decoction in both cortex and hippocampus of BDNF and TrKB was not significantly different to the model group(P>0.05). Conclusion Suanzaoren decoction can increase the expression of BDNF and TrKB gene, promote neuronal proliferation, and resist depression.