Objectives To analyze a rare autosomal recessive disease, aggrecan type spondylometaphyseal dysplasia (SEMD), which was caused by ACAN gene mutations. Methods A 7 years old girl was diagnosed with short stature after excluding growth hormone deficiency, idiopathic short stature, and hypothyroidism. Combining family history and clinical features, SEMD were suspected and genetic tests were performed. Results The patient was found with homozygous mutations of c.512C > T inACAN gene, and was diagnosed with aggrecan type SEMD. Her parents were found to be heterozygous mutation carrier. Conclusions In patients with high suspection of a special type of short stature, early genetic tests should be carried out for a clear diagnosis.

Objective: To construct the antheraea pernyi lysozyme(ApLZ) expression system using the methylotrophic yeast Pichia pastoris, to assay the antibacterial activity of the recombinant ApLZ against Streptococcus mutans. Methods:The ApLZ expression system was used in the expression and purity of Ap-lysozyme. The antibacterial activity of the recombinant ApLZ against Streptococcus mutans were assayed by using agar diffusion method. Results:Expression system of ApLZ was constructed using the methylotrophic yeast Pichia pastoris as a host. ApLZ was expressed correctly and secreted efficiently when the native signal sequence of ApLZ was used as secretion signal. The level of ApLZ expression in Pichia pastoris peaks at 96 h after the induction of sustaining 5 ml/L methanol. The molecular weight of the recombinant ApLZ is about 20 000. Conclusion:The recombinant ApLZ is active in inhibiting the growth of Streptococcus mutans.

Objective To explore microRNA (miRNA) expression patients with β-thalassemia major.Methods MiRNA differential expression were detected in β-thalassemia major by miRNA microarray analysis and quantitative real-time PCR.Results The results of miRNA array showed that 26 differential expression miRNAs were up regulated and 30 differential expression miRNAs were down regulated.Hsa-miR-618 which expression was up regulated and hsa-miR-103a-2-5p which expression was down regulated were selected for quantitative real-time PCR detection.It was showed that the expression tendency of hsa-miR-618 and hsa-miR-103a-2-5p were consistent.So the method of miRNAs array was reliable.The target genes of 17 miRNAs which were up regulated and 24 miRNAs which were down regulated were predicted by using database software.Conclusion It is notable that the differential expression of miRNAs in patients with β-thalassemia major.It will be afforded new direction and thinking for the mechanism research and disease treatment through the further research of the miRNAs regulation pathway in β-thalassemia major.

Objective To study the role of laparoscopic ventrohysteropexy in the treatment of endometriosis with a retroverted uterus. Methods 64 patients with endometriosis diagnosed under laparoscopy were retrospectively analyzed.After performing conservative operative procedures for the treatment of endometriosis,21 patients underwent ventrohysteropexy(group Ⅰ) and 43 patients didn't(groupⅡ). Results Follow-up study of the 64 cases for 2 to 6 years showed that (1)The complete relief rate of dysmenorrhoea was 94.1% and 87.5% in group Ⅰ and group Ⅱ,respectively.There was significant difference( ? 2=7.23, P

OBJECTIVE: Aimed to discuss the perioperative treatment of the patient with asthma under endoscopic sinus surgery, to reduce the complications, adverse events and improve cure rate. METHOD: One hundred and fifty-two patients with asthma under nasal endoscopic surgery were analyzed retrospectively. RESULT: After specification of perioperative treatment, all patients with good control of asthma were in good condition before surgery. One hundred and sixteen patients were safely backed to ward after surgery. There were 13 cases had asthma attack of different degrees. The other 35 patients were send to ICU for observation of 24 to 48 h. One case had an acute attack after returned from ICU. One patient had instantly attacks of asthma after extubation. All patients improved after treatment,and recovered well after 1 year's follow-up. CONCLUSION We should pay more attention to the close relationship of CRS and asthma, standardize the perioperative treatment, master the principles of management of acute attack of asthma. As long as to make sufficient perioperative preparation, the nasal endoscopic surgery with asthma is safe, and it can have good efficacy.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asthma ; complications ; Child ; Chronic Disease ; Endoscopy ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Rhinitis ; complications ; surgery ; Sinusitis ; complications ; surgery ; Treatment Outcome ; Young Adult

To report a case of an adult male with a huge cavernous hemangioma arising from the nasal septum, and the lesion was widely spread to hard palate, sphenoid sinus, ethmoid sinus and right maxillary sinus. After giving embolization, it was completely excised via transnasal endoscopic approach and lateral rhinotomy, histologic examination reported cavernous hemangioma. There was no recurrence at 1 year's follow-up.
Hemangioma, Cavernous ; Humans ; Male ; Middle Aged ; Nasal Septum ; Nose Neoplasms

OBJECTIVE: To investigate the expression of MIF, NF-κB p65 and IL-1β in the tissue of nasal polyps and normal inferior turbinate, to analyze their relevance, and to explore their role in nasal polyps. METHOD: The infiltrating results of EOS and others inflammatory cells in 48 cases diagnosed as nasal polyps (nasal polyps group) were detected by HE staining, and the expression of MIF, NF-κB p65 and IL-1β were investigated by immunohistochemistry. Twenty-one patients who were performed septoplasty orthotics were included as the control group; the VAS and Lund-Kennedy score were used to evaluate the degree of nasal polyps in patients and the correlation analysis was conducted between the disease severity and the expression levels of this three factors. RESULT: (1) The infiltrating results of EOS and the expression level of MIF, NF-κB p65, IL-1β in nasal polyps group are obviously higher than these in the control group (P < 0.05); Spearman correlation analysis shows that MIF, NF-κb p65 and IL-1β are positively correlated with each other (r = 0.74, 0.66, 0.60, P < 0.05); the nuclear activation rate of NF-κB p65 is positively correlated with MIF, IL-1β (r = 0.67, 0.63, P < 0.05); the infiltration degree of EOS is positively correlated with MIF, IL-1β (r = 0.49, 0.55, P < 0.05), but has no correlation with the NF-κB p65 and its nuclear activation rate. (2) The VAS grade of the nasal polyps group is 8.24 ± 1.72 and the nasal endoscopic examination grade is 8.63 ± 3.81. Spearman correlation analysis shows that the VAS grade is positively correlated with the level of MIF (r = 0.71, P < 0.05), but had no correlation with NF-κB p65, its nuclear activation rate and IL-1β. The nasal endoscopic examination grade is positively correlated with MIF and the nuclear activation rate of NF-κB p65 (r = 0.79, 0.73, P < 0.05), but has no correlation with the level of NF-κB p65 and IL-1β (P > 0.05). CONCLUSION MIF, NF-κB p65 and IL-1β may promote the development of the nasal polyps, and there may exist the IL-1β--NF-κB--MIF approach in nasal polyps; MIF and NF-κB may participate in maintaining physiological function of inferior turbinate and have relations with the lightest sustained inflammation of inferior turbinate. The MIF and NF-κB p65 nuclear activation rate can be used as a standard of the nasal polyp severity and the judgement prognosis.
Humans ; Inflammation ; metabolism ; Interleukin-1beta ; metabolism ; Intramolecular Oxidoreductases ; metabolism ; Macrophage Migration-Inhibitory Factors ; metabolism ; Nasal Polyps ; metabolism ; Transcription Factor RelA ; metabolism

Aim To define the effect of genistein (GST) on ceruloplasmin (CP) expression in cerebral cortex of focal cerebral ischemia male rats.Methods The effect of GST on CP expression were investigated by means of immunohistochemistry and Western blot in cerebral cortex of focal cerebral ischemia male rats.Results The expression of CP was time coursed during brain ischemia. According to the sham group,CP expression decreased in 6 h-,12 h-and 24 h-ischemia groups,and then increased gradually in 48 h-and 72 h-ischemia rats. GST weakened the ischemia-induced CP change.Pretreatment with an antiestrogen tamoxifen (TAM) could completely abolish the effect of GST.Conclusion The present results indicate that GST may inhibit the time coursed expression changes of CP and then provide neuroprotective effects by inhibiting iron related oxidative stress during brain ischemia via estrogen receptor.

Aim To observe the effects of theaflavin on intracellular calcium concentration(i) level in rat ventricular myocytes and discuss the possible mechanisms.Methods The effects of theaflavin oni were investigated in rat ventricular myocytes.i was detected by laser confocal microscopy and represented by relative fluorescent intensity(FI-FI0)/FI0,%;FI0:control;FI:administration of drugs).Results ① Theaflavin(10,20,40 ?mol?L-1) had no effect on the i of ventricular myocytes in normal Tyrode′s solution.However,it reduced the i of ventricular myocytes in simulated ischemia solution in a concentration-dependent manner.② Pretreatment with Bay k8644(0.5 ?mol?L-1) mostly abolished the effects of theaflavin(20 ?mol?L-1) in simulated ischemia solution.③ Theaflavin(20 ?mol?L-1) markedly inhibited the low concentration of ryanodine-induced i increase in Ca2+-free Tyrode′s solution.④ When the propagating waves of elevated i(Ca2+ waves) were produced by increasing extracellular Ca2+ concentration from 1 mmol?L-1to 10 mmol?L-1,theaflavin(20 ?mol?L-1) could block the propagating waves of elevated i(Ca2+ waves),reduce the frequency and duration of propagating waves,and reduce i as well.Conclusion Theaflavin may reduce the i in isolated rat ventricular myocytes via inhibiting Ca2+ influx by voltage-dependent Ca2+ channel and alleviating Ca2+ release from sarcoplasmic reticulum(SR).