Periarticular fracture of the shoulder is a common type of fractures in the elderly. Postoperative adverse events such as internal fixation failure, humeral head ischemic necrosis and upper limb dysfunction occur frequently, which seriously endangers the exercise and health of the elderly. Compared with the fracture with normal bone mass, the osteoporotic periarticular fracture of the shoulder is complicated with slow healing and poor rehabilitation, so the clinical management becomes more difficult. At present, there is no targeted guideline or consensus for this type of fracture in China. In such context, experts from Youth Osteoporosis Group of Chinese Orthopedic Association, Orthopedic Expert Committee of Geriatrics Branch of Chinese Association of Gerontology and Geriatrics, Osteoporosis Group of Youth Committee of Chinese Association of Orthopedic Surgeons and Osteoporosis Committee of Shanghai Association of Chinese Integrative Medicine developed the Chinese expert consensus on the diagnosis and treatment of osteoporotic periarticular fracture of the shoulder in the elderly ( version 2023). Nine recommendations were put forward from the aspects of diagnosis, treatment strategies and rehabilitation of osteoporotic periarticular fracture of the shoulder, hoping to promote the standardized, systematic and personalized diagnosis and treatment concept and improve functional outcomes and quality of life in elderly patients with osteoporotic periarticular fracture of the shoulder.

Objective:To evaluate the clinical efficacy of channel screw guided by O-arm navigation for the treatment of type II fragile fracture of pelvis (FFP) in the elderly.Methods:A retrospective cohort analysis was performed on clinical data of 37 patients with type II FFP admitted to Shanghai Pudong Hospital, Fudan University Pudong Medical Center from September 2019 to April 2021. There were 9 males and 28 females, aged 65-82 years [(71.8±10.1)years]. A total of 15 patients receipt channel screw fixation under O-arm navigation (surgical group) and 22 patients were treated conservatively (non-surgical group). The visual analogue scale (VAS) and Majeed functional score were compared between the two groups at emergency visit and at 1 week, 1 month, 3 months, 6 months after treatment. The accuracy of screw insertion and complications were also recorded during treatment and follow-up.Results:All patients were followed up for 6-18 months [(13.2±5.1)months]. There were no significant differences in the VAS and Majeed functional score between the two groups at emergency visit (all P>0.05). In both groups, lower VAS and higher Majeed functional score were found at 6 month after treatment as compared with those at emergency visit (all P<0.01). The VAS in surgical group was 2(1, 4)points at 1 week after treatment, lower than 4(3, 5)points in non-surgical group ( P<0.01). The VAS in surgical group was 1(1, 2)points at 1 month after treatment, lower than 3(2, 5)points in non-surgical group ( P<0.05). The Majeed functional score in surgical group was (50.2±4.2)points at 1 week after treatment, higher than (40.2±5.6)points in non-surgical group ( P<0.01). The Majeed functional score in surgical group was (73.8±5.2)points at 1 month after treatment, higher than (62.4±5.0)points in non-surgical group ( P<0.01). The two groups had no significant differences in VAS and Majeed functional score at 3 months and 6 months after treatment (all P>0.05). The accuracy of screw insertion in surgical group was 93% (14/15). In surgical group, the complication rate was 13%(2/15), including urinary tract infection in 1 patient and intraoperative screw penetration in 1, with no screw loosening or nerve and vascular injuries. In non-surgical group, the complication rate was 50%(11/22), including urinary tract infection in 5 patients, penetrating pneumonia in 5 and deep vein thrombosis in 1. The complication rate was significantly different between the two groups ( P<0.05). Conclusions:Compared with non-surgical treatment, the channel screw insertion guided by O-arm navigation can achieve precise screw placement, relieve pain early, promote functional recovery, realize accurate insertion of the screw and reduce the complication rate for type II FFP in the elderly.

OBJECTIVE: To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy. METHODS: Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members. RESULTS: The proband was found to carry a frameshifting mutation of MBD5 gene, namely c.2217delT (p.F739Lfs*6), which was inherited from his mother and unreported previously. Sanger sequencing confirmed that his brother carried the same mutation with a similar phenotype. His mother also had poor language expression when she was young, in addition with poor academic performance, though she could do some housework and had no history of convulsion. CONCLUSION A novel pathogenic variant of the MBD5 gene was discovered, which has enriched the mutational spectrum of the MBD5 gene. Above discovery has enabled genetic counseling and prenatal diagnosis for the family.
Child ; DNA-Binding Proteins/genetics* ; Female ; Humans ; Intellectual Disability/genetics* ; Male ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Whole Exome Sequencing

Objective:To investigate the clinical characteristics and gene variation of asparagine synthase deficiency that is caused by ASNS gene variation. Methods:In Department of Neuroendocrine Pediatrics, Affiliated Hospital of Qingdao University from October 2018 to February 2020, the clinical data of a family of asparagine synthase deficiency were analyzed retrospectively.The pathogenic mutation of the proband was screened by the full exon analysis technique.The pathogenic sites of candidate genes were determined by combining the phenotype of the proband.In the heterotopic spot of the proband, his parents and other family members were verified by Sanger sequencing.Meanwhile, the relevant literature database was consulted, and the reported ASNS mutation related cases were collected and reviewed. Results:The female with proband visited the hospital at the age of 4 months, and she had recurrent convulsions at the age of about 3 months.Physical examination showed that the child suffered from microcephaly, and mental and motor retardation.Meanwhile, video electroencephalogram examination displayed extensive moderate high amplitude spiny slow wave and sharp slow wave.Exon sequencing illustrated that the compound heterozygous variants of ASNS gene were c. 1211G>A (p.R404H) and c. 1643C>T (p.S548F), respectively.c.1211G>A was a known pathogenic variant, and c. 1643C>T was a new variant.The proband′s younger brother visited the hospital at the age of 2 months, developed convulsions at the age of 1 month, and developed mental and motor retardation.Electroencephalogram displayed that bilateral posterior head was dominant, multiple foci and extensive spike wave, and spike slow wave and fast wave were distributed.Sanger sequencing revealed the same ASNS compound heterozygous variants as the proband.Both of them died of status convulsion at the age of 7 months and 6 months, respectively. Conclusions:This study is helpful to further understand the clinical features of the disease and reveal a new pathogenic mutation of ASNS gene, so as to enrich the mutation spectrum of ASNS gene, thus providing important basis for clinical treatment and genetic counseling.

BACKGROUND:Steroid-induced osteonecrosis of the femoral head (SONFH) is a common bone disease characterized as high morbidity and poor prognosis,but the pathogenesis is unclear.Oxidative stress treatment is closely related to the occurrence and development of SONFH,and has tremendous potential in the treatment of SONFH,which can be realized by Nano-Se.OBJECTIVE:To observe the protective effect of porous Se@SiO2 nanocomposite on chondrocytes by antioxidant stress,and to further explore its mechanism of protection and treatment of SONFH.METHODS:(1) In vitro experiment:The rat chondrocytes were isolated,cultured and identified.Then,the chondrocytes were cultured with porous Se@SiO2 nanocomposite to suppress the production of reactive oxygen species (ROS).(2) In vivo experiment:A total of 36 rats were randomly divided into three groups.Steroid-induced group and experimental group were treated with intraperitoneal injection of lipopolysaccharide and intramuscular injection of methylprednisolone to induce SON FH models.Seven days after modeling,the experimental group was intraperitoneally injected with porous Se@SiO2 nanocomposite.No intervention was done in control group (blank control).At 8 weeks after modeling,rat bilateral femoral heads were taken for hematoxylin-eosin staining and Micro-CT scanning.RESULTS AND CONCLUSION:Results from the ROS detection and TUNEL apoptosis tests showed that the level of ROS in the chondrocytes was significantly reduced after intervention with Se@SiO2 (P ＜ 0.05).Micro-CT scanning findings showed that the bone mineral density,bone volume,bone area/bone volume,trabecular number,trabecular thickness,and trabecular separation in the steroid-induced and experimental groups were significantly different from those in the control group (P ＜ 0.05).Hematoxylin-eosin staining results showed smooth femoral head,normal bone cells,chondrocytes and trabecular bone,as well as few empty bone lacunae and fat cells in the control group,while in the steroid-induced group,there was bone trabecular fracture,fat cell hypertrophy fusion,a large number of empty bone lacunae and obvious osteonecrosis.These manifestations were significantly improved in the experimental group.To conclude,the porous Se@SiO2 nanocomposite has good antioxidative stress ability,suppresses the ROS production and exerts therapeutic effects on SONFH.

S and NO production induced by rhIL-1β in a concentration-dependent manner. It is suggested that PDTC can inhibit NO production and iNOS mRNA expression induced by IL-1β, which may provide an alternative method for the treatment of osteoarthritis.

[Objective]To investigate the clinical value of OCM approach of minimally invasive total hip arthroplasty(MIS-THA).[Method]From February 2005 to December 2006,18 cases of MIS-THA were performed with OCM approach technique.The mini-incision through the intermuscular interval provided a good exposure for total hip replacement,preserved muscle integrity and kept the posterior capsule intact.A two-stage osteotomy of femoral neck was conducted.Specialized acetabular and femoral instruments were applied to fix the prosthesis.[Result]The average length of skin incision was 9.2 cm,the blood loss and drainage were 230 ml and 90 ml,respectively.At 6 months after operation,the mean Harris scores of hip increased from 46.2 to 87.1 for all cases.One case of femoral fracture around prosthesis and one of excessive anteversion were observed.[Conclusion]OCM approach brought satisfactory clinical outcomes when applied in MIS-THA.This surgical technique shows an obvious learning curve,but requires specialized instruments.

The cortexes were obtained from new-born rats and dissociated to single cells by triturating. The cells were cultured in neural stem cell (NSC) culture medium (DMEM supplemented with bFGF, EGF and B27) and formed primary neurospheres after 7 days. Single cells dissociated from neurosphere were cultured in 96-well plates and formed single-cell cloning neurosphere 7 days later. The primary and single-cell cloning neurospheres were both positive for the immunofluorescent staining of nestin and were identified as NSC. It was proved that NSC can be expanded in vitro and provide seed cells for neural tissue engineering.
Animals ; Animals, Newborn ; Cell Separation ; Cells, Cultured ; Cerebral Cortex ; cytology ; Culture Media ; Neurons ; cytology ; Rats ; Rats, Sprague-Dawley ; Stem Cells ; cytology ; Tissue Engineering

The cortexes were obtained from new-born rats and dissociated to single cells by triturating. The cells were cultured in neural stem cell (NSC) culture medium (DMEM supplemented with bFGF, EGF and B27) and formed primary neurospheres after 7 days. Single cells dissociated from neurosphere were cultured in 96-well plates and formed single-cell cloning neurosphere 7 days later. The primary and single-cell cloning neurospheres were both positive for the immunofluorescent staining of nestin and were identified as NSC. It was proved that NSC can be expanded in vitro and provide seed cells for neural tissue engineering.
Animals, Newborn ; Cell Separation ; Cells, Cultured ; Cerebral Cortex/*cytology ; Culture Media ; Neurons/*cytology ; Rats, Sprague-Dawley ; Stem Cells/*cytology ; Tissue Engineering

The feasibility of using gene therapy to treat full-thickness articular cartilage defects was investigated with respect to the transfection and expression of exogenous transforming growth factor (TGF)-beta 1 genes in bone marrow-derived mesenchymal stem cells (MSCs) in vitro. The full-length rat TGF-beta 1 cDNA was transfected to MSCs mediated by lipofectamine and then selected with G418, a synthetic neomycin analog. The transient and stable expression of TGF-beta 1 by MSCs was detected by using immunohistochemical staining. The lipofectamine-mediated gene therapy efficiently transfected MSCs in vitro with the TGF-beta 1 gene causing a marked up-regulation in TGF-beta 1 expression as compared with the vector-transfected control groups, and the increased expression persisted for at least 4 weeks after selected with G418. It was suggested that bone marrow-derived MSCs were susceptible to in vitro lipofectamine mediated TGF-beta 1 gene transfer and that transgene expression persisted for at least 4 weeks. Having successfully combined the existing techniques of tissue engineering with the novel possibilities offered by modern gene transfer technology, an innovative concept, i.e. molecular tissue engineering, are put forward for the first time. As a new branch of tissue engineering, it represents both a new area and an important trend in research. Using this technique, we have a new powerful tool with which: (1) to modify the functional biology of articular tissue repair along defined pathways of growth and differentiation and (2) to affect a better repair of full-thickness articular cartilage defects that occur as a result of injury and osteoarthritis.
Animals ; Bone Marrow Cells ; cytology ; metabolism ; Cartilage, Articular ; cytology ; Cells, Cultured ; Chondrocytes ; cytology ; Gene Transfer Techniques ; Rabbits ; Recombinant Proteins ; biosynthesis ; genetics ; Stem Cells ; cytology ; metabolism ; Tissue Engineering ; Transfection ; Transforming Growth Factor beta ; biosynthesis ; genetics