Background Malignant osteopetrosis is an extremely rare dense bone disease,and sometimes features ocular disease and cranial nerve palsy.This disease received high attention because of its poor prognosis.And whether the eye manifestation improved after treatment is a problem for concern.Objective This study was to clarify the clinical manifestation,treatment and prognosis of malignant osteopetrosis associated with ocular disease.Methods A retrospective study was adopted.Two children with malignant osteopetrosis associated with eye symptoms were collected from Beijing Children Hospital.The systemic and ocular medical examinations were performed on the patients,including physical examination,hematology laboratory examination,abdominal B ultrasound and bone X ray radiography,external ocular examination,flash visual evoked potential (F-VEP) and CT of orbit.Bone marrow hematopoietic stem cell transplantation was employed and 5-year following-up was cinducted on the chidren.Results The children showed increased bone density,systemic bone sclerosis,basilar thickening,abnormalities of hematology indexes,anemia,hepatosplenomegaly,optical canal stenosis and abnormality of F-VEP P2 wave.In addition,optical disc pale,facial paralysis and paralytic esotropia were seen in a female child and alternating strabismus was found in another boy.After successful treatment,the systemic symptoms remitted in both children,but the eye findings remained unchanged in the female child during the follow-up duration.However,the strabismus diminished in the male child.The optical bone canal widening to 1.9 mm 1 year and 3.2 mm 5 years after treatment in the female child.Conclusions Strabismus and eye disease are the signs of malignant infantile osteopetrosis and reflections of the impairment of the central nervous system.The pathogenetic mechanism of malignant osteopetrosisrelated eye disease is below understanding now.Early bone marrow hematopoietic stem cell transplantation for malignant osteopetrosis can offer the best chance of long-term survival and improve the prognosis of eye diseases.

Objective To analyze the epidemiological features and trends of glenoid fractures from 2003 through 2012 in the Third Affiliated Hospital to Hebei Medical University.Methods The clinical data were collected of the patients with glenoid fracture who had been treated between January 2003 and December 2012 in our hospital.The patients' gender,age and fracture type of Ideberg classification were documented.The data from January 2003 to December 2007 were assigned into group A and those from January 2008 to December 2012 into group B.The 2 groups were compared to find out the general epidemiological characteristics and trends in the recent 10 years.Results A total of 225 patients with glenoid fracture were collected,including 176 males and 49 females.The total male/female ratio was 3.59∶ 1.The glenoid fractures predominated in an age range of 31 to 40 years (23.56％).According to Ideberg classification,there were 35 cases (15.56％) of type Ⅰ,58 ones (25.78％) of type Ⅱ,64 ones (28.44％) of type Ⅲ,21 ones (9.33％) of type Ⅳ,30 ones(13.33％) of type Ⅴ and 17 ones(7.56％) of type Ⅵ.The male/female ratio was 5.29∶1 in group A of 107 patients and 2.69∶1 in group B of 118 patients.The mean age of group A was 40.2 ± 16.0 years and that of group B 47.5 ± 14.8 years.The differences in male/female ratio,mean age and distribution of age were statistically significant between the 2 groups (P ＜ O.05).The fractures predominated in an age range of 31 to 40 years (28.97％) in group A and in the age group of 51 to 60 years (27.12％) in group B.The most frequent fracture type was type Ⅲ in both groups,accounting for 29.91％ and 27.12％ respectively.There was no significant difference between the 2 groups in distribution of Ideberg classification (P ＞ 0.05).Conclusions The peak age of glenoid fractures was from 31 to 40 years.There was an increasing trend in the mean age.There were more male patients than female ones.The high-frequency type was Ideberg type Ⅲ.

OBJECTIVE: To explore the mechanism of ubiquitin-proteasome pathway(UPP) in the degradation of hyperphosphorylated tau protein in aluminum-induced mouse neuroblastoma N2 a cells. METHODS: N2 a cells in logarithmic growth period were randomly divided into control group and MG132 group. Cells in control group were exposed to concentrations of 0 or 1 mmol/L aluminum chloride for 24 hours. Cells in MG132 group were pretreated with MG132 at a concentration of 5 μmol/L for 6 hours, then exposed to concentrations of 0 or 1 mmol/L aluminum chloride for 24 hours. After exposure, the cells were collected. Western blotting was used to detect the relative expression of tau-5, P-tau181, P-tau231, P-tau262, P-tau396, heat shock protein 70(Hsp70) and carboxyl terminus of the Hsp70-interacting protein(CHIP). The ubiquitin relative expression was detected by enzyme-linked immunosorbent assay. RESULTS: The results of factorial analysis showed that the relative expression of tau-5, P-tau231, P-tau262, P-tau396, CHIP, Hsp70 and ubiquitin in N2 a cells were statistically significant in the main effect and interaction effect of aluminum chloride and MG132 treatment(P<0.05). Both in the control group and MG132 group, the relative expression of tau-5, P-tau231, P-tau262, P-tau396, CHIP, Hsp70 and ubiquitin in N2 a cells exposed to 1 mmol/L aluminum chloride increased(P<0.05) when compared with the N2 a cells without exposed to aluminum chloride. No matter aluminum chloride exposed or not, the relative expression of tau-5, P-tau231, P-tau262, P-tau396, CHIP, Hsp70 and ubiquitin in N2 a cells of MG132 group was higher than that of control group(P<0.05). CONCLUSION: UPP is involved in the regulation of hyperphosphorylated tau protein by proteasome degradation in aluminum-induced N2 a cells. UPP mainly regulates P-tau231, P-tau262, and P-tau396 sites. CHIP and Hsp70 played an important role in the UPP pathway.

Diverticulum ; diagnosis ; Eyelids ; pathology ; Fistula ; diagnosis ; Humans ; Infant ; Male

Peritoneal adhesions are fibrous tissues that tether organs to one another or to the peritoneal wall and represent the major cause of postsurgical morbidity. Enterolysis at repeat surgeries induces adhesion reformation that is more difficult to prevent than primary adhesion. Here we studied the preventive effects of different approaches of berberine treatment for primary adhesion, and its effects on adhesion reformation compared to Interceed. We found the primary adhesion was remarkably prevented by berberine through intraperitoneal injection 30 min before abrasive surgery (pre-berberine) or direct addition into injured cecum immediately after the surgery (inter-berberine). Rats with adhesion reformation had a more deteriorative collagen accumulation and tissue injury in abrasive sites than rats with primary adhesion. The dysregulated TIMP-1/MMP balance was observed in patients after surgery, as well as adhesion tissues from primary adhesion or adhesion reformation rats. Inter-berberine treatment had a better effect for adhesion reformation prevention than Interceed. Berberine promoted the activation of MMP-3 and MMP-8 by directly blocking TIMP-1 activation core, which was reversed by TIMP-1 overexpression in fibroblasts. In conclusion, this study suggests berberine as a reasonable approach for preventing primary adhesion formation and adhesion reformation.