The RPT2a-MET1 axis regulates TERMINAL FLOWER1 to control inflorescence meristem indeterminacy in Arabidopsis.

Plant inflorescence architecture is determined by inflorescence meristem (IM) activity and controlled by genetic mechanisms associated with environmental factors. In Arabidopsis (Arabidopsis thaliana), TERMINAL FLOWER1 (TFL1) is expressed in the IM and is required to maintain indeterminate growth, whereas LEAFY (LFY) is expressed in the floral meristems (FMs) formed at the periphery of the IM and is required to activate determinate floral development. Here, we address how Arabidopsis indeterminate inflorescence growth is determined. We show that the 26S proteasome subunit REGULATORY PARTICLE AAA-ATPASE 2a (RPT2a) is required to maintain the indeterminate inflorescence architecture in Arabidopsis. rpt2a mutants display reduced TFL1 expression levels and ectopic LFY expression in the IM and develop a determinate zigzag-shaped inflorescence. We further found that RPT2a promotes DNA METHYLTRANSFERASE1 degradation, leading to DNA hypomethylation upstream of TFL1 and high TFL1 expression levels in the wild-type IM. Overall, our work reveals that proteolytic input into the epigenetic regulation of TFL1 expression directs inflorescence architecture in Arabidopsis, adding an additional layer to stem cell regulation.

[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed.Multigene panel sequencing was performed after DNA extraction from peripheral blood.The possible pathogenic mutations of KFS were explored on the basis of bioinformatics analysis.Results The KFS cohort consisted of 25 patients,including 15 males and 10 females,with a mean age of(12.9±7.3)years.Limited cervical range of motion was the most common clinical feature(12 cases,48%).Based on the Samartzis classification,the proportion of patients suffered from short neck(P=0.031)and limited cervical range of motion(P=0.026)in type Ⅲ KFS was significantly higher than that in type Ⅱ and type Ⅰ KFS.Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients,including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.There was no pathogenic mutation found in five reported pathogenic genes(GDF6,MEOX1,GDF3,MYO18B and RIPPLY2)associated with KFS.Conclusions Our study has shown that patients with multiple contiguous cervical fusions are more likely to manifest short neck,limited cervical range of motion,and clinical triad.Therefore,these patients need additional attention and follow-up.Our analysis highlights novel KFS-related genetic variants,such as COL6A and CDAN1,extending the spectrum of known mutations contributing to this syndrome and providing a basis for elucidating the pathogenesis of KFS.

Electrochemical biosensors based on antibody, nucleic acid and enzyme functionalized graphene for the detection of disease-related biomolecules.

The unique physical structure and chemical and electrical properties of graphene make it an ideal choice for sensor materials. The sensing platform of biomolecule functionalized graphene has received extensive attention due to its high sensitivity and selectivity, especially the biosensors constructed by combining antibodies, nucleic acids and enzymes that efficiently recognize specific targets with graphene having a large specific surface area and a fast electron transfer rate, which has become a significant research direction. In this paper, electrochemical biosensors based on graphene materials developed in recent years are summarized. The methods of functional modification of graphene, graphene oxide and reduced graphene oxide with antibodies, nucleic acids and enzymes are briefly described. In addition, the advantages and disadvantages of the constructed electrochemical biosensors in detecting pathogens and disease markers are also reviewed. Finally, we are optimistic about this prospect for the development direction and application prospects of such electrochemical biosensors.

Clonal characteristics of paired infiltrating and circulating B lymphocyte repertoire in patients with primary biliary cholangitis.

BACKGROUND: PBC is a prototypical autoimmune liver disease characterized by portal lymphoplasmacyte infiltration. ALD is a prototypical environment-driven disease, featured by mild lymphocyte infiltration. We hypothesize that B cells are more involved in the pathogenesis of PBC. By analysing the infiltrating B cell repertoire, we aimed to unveil greater oligoclonal expansion and active clonal exchange between liver and periphery in PBC than in ALD patients. METHODS: Using NGS of Ig H chain genes, we analysed the liver-infiltrating and paired peripheral B lymphocyte repertoire from nine PBC and four ALD patients. RESULTS: In the liver of PBC and ALD patients, (i) roughly 10% of the B lymphocytes were clonally related and highly expressed, and there were also lineages that underwent extensive clonal expansion; (ii) there was different use of IGHV/IGHJ segments between PBC and ALD, suggesting distinct Ag exposure backgrounds, but this did not lead to a significant difference in their clonal expansion level. Analysis of data sets from paired samples further revealed, (iii) direct clonal exchange and evolutionally related B cell clones between the infiltrating and peripheral repertoire; (iv) the seeding of the infiltrating clones to periphery, and peripheral ones to the liver, for further extensive evolution. CONCLUSIONS: The oligoclonally expanded nature of the infiltrating B cell repertoire implies B cell immunity is involved in the pathogenesis of both diseases. The observed clonal exchange might provide an approach to identify and monitor the infiltrating B cells through the periphery.

The effect of growing Rod treatment on coronal balance during serial lengthening surgeries in early onset scoliosis.

BACKGROUND: Gaining and maintaining spinal balance after surgery is of great importance for early onset scoliosis (EOS). However, tendency of balance on the coronal plane after growing rod surgery has not been studied before. This study evaluated the effect of growing rod treatment on coronal balance (CB) during serial lengthening surgeries in EOS. METHODS: All EOS patients treated with growing rod technique in our hospital from August 2002 to June 2014 were retrospectively reviewed. Radiographic data before the sixth lengthening surgery were measured on the posteroanterior X-ray images, including global CB (C7 plumbline-central sacral vertical line, C7PL-CSVL), regional CB (apical vertebrae-CSVL), Cobb angle of the main curve and pelvic inlet width (PIW). Global CB index and regional CB index were calculated as dividing global CB and regional CB by PIW, respectively. The changes of these parameters during repeated lengthening surgeries were analyzed. RESULTS: Five hundred seventy Radiographs of 67 patients, including 134 images before and after growing rod insertion surgeries and 436 images pre- and post-lengthening surgeries were measured. Global CB and global CB index did not show significant differences between every two set points during lengthening procedures (P > 0.05). The percentage of patients with C7PL-CSVL distance more than 20 mm roughly ranged from 30 to 45 % during the lengthening process. With regards to regional CB and main curve Cobb angles, there were significant differences between every two adjacent set points during the first five lengthening surgeries (P < 0.05). CONCLUSIONS: Global CB did not significantly change during serial lengthening surgeries and C7PL-CSVL distances of greater than 20 mm comprised of over one third of patients during growing rod treatment. However, worsening regional CB and Cobb angles of the main curve during lengthening intervals were corrected by lengthening manipulation and maintained at a stable level.

Peripapillary retinal nerve fibre layer thickness and its association with refractive error in Chinese children: the Anyang Childhood Eye Study.

BACKGROUND: To report the thickness of the peripapillary retinal nerve fibre layer (pRNFL) in Chinese children and examine its association with refractive error, axial length (AL) and optic disc parameters. DESIGN: Population-based cross-sectional study. PARTICIPANTS: A total of 2893 seven-year-old children from 11 randomly selected primary schools in Anyang, central China. METHODS: Participants underwent ophthalmic examinations including optical biometry, cycloplegic autorefraction and spectral-domain ocular coherence tomography. MAIN OUTCOME MEASURES: Retinal nerve fibre layer thickness in 16 radial sections, cycloplegic spherical equivalent, AL. RESULTS: The mean (SD) average RNFL thickness was 102.01(8.02) µm. The average RNFL thickness decreased with smaller disc area (r = 0.18, R2 = 0.03, P < 0.0001), bigger cup area (r = -0.11, R2 = 0.01, P < 0.0001), smaller rim area (r = 0.28, R2 = 0.08, P < 0.0001), smaller nerve head volume (r = 0.27, R2 = 0.07, P < 0.0001), longer AL (r = -0.15, R2 = 0.02, P < 0.0001) and a negative spherical equivalent (r = 0.11, R2 = 0.01, P < 0.0001). Hyperopic children had a thicker RNFL than emmetropic children [102.45(8.13) µm vs. 100.81 (7.18) µm, P < 0.001]. Myopic children had thinner RNFL than emmetropic children [99.17 (7.69) µm vs. 100.81 (7.18) µm, P < 0.05]. CONCLUSION: Retinal nerve fibre layer thickness decreased with increasing AL, higher myopia, bigger cup area, smaller disc and rim area, and a smaller nerve head volume, but the coefficient of determination for all these associations was small. The RNFL in myopes was significantly thinner than emmetropes or hyperopes, but with small absolute differences. The study provides RNFL values for healthy 7-year-old Chinese children. Follow up of this cohort to observe the change of RNFL thickness with myopia and possible change in detected associations with age is planned.

Penehyclidine hydrochloride decreases pulmonary microvascular permeability by upregulating beta arrestins in a murine cecal ligation and puncture model.

BACKGROUND: Penehyclidine hydrochloride (PHC) is a new anticholinergic drug, which has been shown to have a good curative effect for sepsis. Beta arrestins have been demonstrated to play important roles in sepsis. This study is to investigate the effects of PHC on pulmonary microvascular permeability and on expressions of beta arrestins in lung injury induced by the cecal ligation and puncture (CLP) procedure. MATERIALS AND METHODS: Thirty healthy female mice were randomly divided into three groups (n = 10 each): sham operation group (control group), CLP group (CLP group), and PHC 0.45 mg/kg group (PHC group). In the PHC group, mice were given an intraperitoneal injection of PHC 0.45 mg/kg 1 h before surgery. Mice in the other two groups received an intraperitoneal injection of the same volume of normal saline. At 12 h after surgery, serum and bronchoalveolar lavage fluid were collected to examine lung permeability index. The lung tissue samples were collected to examine expressions of myosin light chain kinase (MLCK), vascular endothelial-cadherin (VE-cadherin), vascular cell adhesion molecule 1 (VCAM-1), myeloperoxidase (MPO), NF-κB, and beta arrestins. RESULTS: Compared with the control group, pulmonary microvascular permeability, MPO activity, NF-κB, VCAM-1, and MLCK expressions were significantly increased, whereas VE-cadherin and beta-arrestin protein expressions were obviously decreased in CLP group. Furthermore, compared with the CLP group, PHC group markedly decreased pulmonary microvascular permeability, MPO activity, NF-κB, VCAM-1, and MLCK expressions, and increased expressions of VE-cadherin and beta arrestins. CONCLUSIONS: This study suggests that in the CLP-induced lung injury model, PHC could reduce pulmonary microvascular permeability by upregulating expressions of beta arrestins.

Distribution of ocular biometry in 7- and 14-year-old Chinese children.

PURPOSE: To describe distributions of ocular biometry and their associations with refraction in 7- and 14-year-old children in urban areas of Anyang, central China. METHODS: A total of 2271 grade 1 students aged 7.1 ± 0.4 years and 1786 grade 8 students aged 13.7 ± 0.5 years were measured with ocular biometry and cycloplegic refraction. A parental myopia questionnaire was administered to parents. RESULTS: Mean axial length, anterior chamber depth, lens thickness, central corneal thickness, corneal diameter, corneal radius of curvature, axial length/corneal radius of curvature ratio, and spherical equivalent refraction were 22.72 ± 0.76 mm, 2.89 ± 0.24 mm, 3.61 ± 0.19 mm, 540.5 ± 31 µm, 12.06 ± 0.44 mm, 7.80 ± 0.25 mm, 2.91 ± 0.08, and +0.95 ± 1.05 diopters (D), respectively, in 7-year-old children. They were 24.39 ± 1.13 mm, 3.42 ± 0.41 mm, 3.18 ± 0.24 mm, 548.9 ± 33 µm, 12.03 ± 0.43 mm, 7.80 ± 0.26 mm, 3.13 ± 0.14, and -2.06 ± 2.20 D, respectively, in 14-year-old children. Compared with 7-year-old children, the older group had significantly more myopia (-3.0 D), longer axial length (1.7 mm), deeper anterior chamber depth (0.3 mm), thinner lens thickness (-0.2 mm), thicker central corneal thickness (10 µm), and greater axial length/corneal radius of curvature ratio (0.22) (all p < 0.001), as well as smaller corneal diameter (-0.03 mm, p = 0.02) and similar corneal radius of curvature. Sex differences were similar in both age groups, with boys having longer axial length (0.5 mm), deeper anterior chamber depth (0.1 mm), shorter lens thickness (0.03 mm), greater central corneal thickness (5 µm), greater corneal diameter (0.15 mm), and greater corneal radius of curvature (0.14 mm) than girls (all p < 0.01). The most important variables related to spherical equivalent refraction were vitreous length, corneal radius of curvature, and lens thickness. CONCLUSIONS: The 14-year-old group had larger parameter dimensions than the 7-year-old group except for corneal radius of curvature (unchanged) and lens thickness and corneal diameter (both smaller). Boys had large parameter dimensions than girls except for lens thickness (smaller). Axial length, corneal radius of curvature, and lens thickness were the most important determinants of refraction.

Dual growing rod treatment in early onset scoliosis: the effect of repeated lengthening surgeries on thoracic growth and dimensions.

PURPOSE: To investigate changes in thoracic dimensions (TDs) following repeated lengthening surgeries after dual growing rod treatment of early onset scoliosis and thereby its effect on thoracic growth. METHODS: All EOS patients treated with dual growing rod technique in Peking Union Medical College Hospital from June 2004 to June 2014 were retrospectively reviewed. Thoracic spine height (T1-T12), total spine height (T1-S1), maximal coronal chest width and pelvic inlet width (PIW) were measured on the posteroanterior X-ray images after initial growing rod insertion surgery and after each lengthening surgery. Absolute TDs measurements were normalized by PIW. Changes of absolute and normalized TDs measurements with age and number of lengthening surgeries were analyzed. RESULTS: Radiographs of 229 surgeries of 53 EOS patients were measured, including 49 images after initial growing rod insertion surgery and 180 images of lengthening surgeries. Significant positive correlations between age and all three absolute TDs were found (P < 0.01) whereas significant negative correlations between age and all three normalized TDs (P < 0.01) were identified. Similarly, negative correlations were also identified between number of lengthening surgeries and the three normalized TDs (P < 0.01). Significant differences of normalized TDs were identified between initial surgery and the first lengthening through covariance analysis (P < 0.01). Yet, such differences were seldom seen between every two adjacent lengthening surgeries. CONCLUSIONS: Growing rod technique could maintain TDs growth through repeated lengthening procedures but the growth rate was compromised as the number of lengthening procedures increased.

Dynamic Expression Profiles of Marker Genes in Osteogenic Differentiation of Human Bone Marrow-derived Mesenchymal Stem Cells.

OBJECTIVE: To observe the expression profiles of osteoblast-related genes in human mesenchymal stem cells (MSCs) derived from bone marrow during osteogenic differentiation. METHODS: MSCs were induced to differentiate with MSC osteogenic differentiation medium for 7, 14, 21 and 28 days respectively. Alizarin Red staining was used to detect matrix mineralization. Expression of osteoblast-related genes, including osteocalcin, osteopontin, Runt-related transcription factor 2 (Runx2), alkaline phosphatase and collagen type 1, was assessed with quantitative reverse transcription-polymerase chain reaction. RESULTS: On day 14 after induction of differentiation, cells were stained positively with Alizarin Red. The expression levels of these genes exhibited an upward trend as induction time was prolonged. Exposure to osteogenic differentiation medium less than 21 days did not significantly induce osteocalcin expression; osteocalcin expression levels in the differentiated cells induced for 21 and 28 days were 1.63 and 2.46 times as high as the undifferentiated cells respectively (all P<0.05). Stimulation with MSC osteogenic differentiation medium over 14 days significantly enhanced bone marrow-derived MSCs to express osteopontin and Runx2 genes (all P<0.05). Osteogenic differentiation medium could significantly induce the expressions of alkaline phosphatase and collagen type1 genes (all P<0.05). Their expressions reached the peak levels on day 21, which were increased more than 4- and 3-fold respectively. CONCLUSION: Human bone marrow-derived MSCs could exhibit the sequential expression pattern of osteoblast marker genes during osteogenic differentiation in vitro.

Meta-analysis of circumferential fusion versus posterolateral fusion in lumbar spondylolisthesis.

STUDY DESIGN: Literature review and meta-analysis. SUMMARY OF BACKGROUND DATA: Posterolateral fusion (PLF) and circumferential fusion (CF) were widely used in the treatment of lumbar spondylolisthesis. There was a great controversy over the preferred fusion method. OBJECTIVE: We performed a meta-analysis for determining which fusion method was better in lumbar spondylolisthesis. METHODS: A systematic search was conducted in MEDLINE, EMBASE, and the Cochrane Collaboration Library from January 1960 to December 2013. Comparative studies were selected according to eligibility criteria. Weighed mean differences (WMDs) and risk differences were calculated. The final strength of evidence was expressed as different levels recommended by the GRADE Working Group. RESULTS: Eight comparative studies were identified. There was less evidence that no significant difference was found between CF and PLF for clinical satisfaction [odds ratio (OR), 0.63; 95% confidence interval (95% CI), 0.30, 1.32; P=0.22)] and for complication rate (OR, 0.64; 95% CI, 0.23, 1.76; P=0.39). The PLF was more effective than the CF for the reduction of complication rate for patients with isthmic spondylolisthesis (OR, 0.44; 95% CI, 0.23, 0.86; P=0.02). There was no significant difference for fusion rate, reoperation rate, operating time, and blood loss. Subanalysis showed that the CF can increase the fusion rate of patients with isthmic spondylolisthesis (OR, 0.12; 95% CI, 0.01, 1.00; P=0.05). PLF was more effective than CF for the reduction in operating time (WMD=-75.68; 95% CI, -99.00, -52.37; P<0.00001), and CF was more effective than PLF for the restoration of segment lordosis, disk height, and spondylolisthesis. CONCLUSIONS: There was really no difference for clinical satisfaction, complication rate, fusion rate, reoperation rate, operating time, and blood loss. PLF can reduce complication rate and operating time. CF can improve fusion rate for individuals with isthmic spondylolisthesis and restore lumbar alignment. The level of evidence was low.

SGMS1 facilitates osteogenic differentiation of MSCs and strengthens osteogenesis-angiogenesis coupling by modulating Cer/PP2A/Akt pathway.

Mesenchymal stem cell (MSC)-mediated coupling of osteogenesis and angiogenesis is a critical phenomenon in bone formation. Herein, we investigated the role and mechanism of SGMS1 in the osteogenic differentiation of MSCs and, in combination with osteogenesis and angiogenesis, to discover new therapeutic targets for skeletal dysplasia and bone defects. SGMS1 addition accelerated MSC osteogenic differentiation, whereas SGMS1 silencing suppressed this process. Moreover, SGMS1 overexpression inhibited ceramide (Cer) and promoted sphingomyelin (SM) levels. SM treatment neutralized the suppressive effect of shSGMS1 on osteogenesis. SGMS1 restrained PP2A activity by regulating Cer/SM metabolism and thus enhanced the levels of phosphorylated Akt, Runx2, and vascular endothelial growth factor (VEGF). Furthermore, SGMS1 transcription was regulated by Runx2. SGMS1 increased MSC-mediated angiogenesis by promoting VEGF expression. SGMS1 addition promoted rat bone regeneration in vivo. In conclusion, SGMS1 induces osteogenic differentiation of MSCs and osteogenic-angiogenic coupling through the regulation of the Cer/PP2A/Akt signaling pathway.

[Effects of pedicle subtraction osteotomy on spino-pelvic parameters of ankylosing spondylitis].

OBJECTIVE: Pedicle subtraction osteotomy (PSO) is a spinal realignment technique of correcting the sagittal spinal imbalance. Theoretically, the level and degree of resection via a PSO should impact the degree of sagittal correction. However, the quantitative effect of PSO level and focal angular change on postoperative spino-pelvic parameters has not been fully elucidated. The purpose of this study was to analyze the relationship between the level/degree of PSO and changes in global sagittal balance and spino-pelvic parameters. METHODS: Retrospective analysis was conducted for 34 patients undergoing PSO surgery for ankylosing spondylitis. Preoperative and postoperative free-standing sagittal radiographs were obtained and analyzed by regional curves (lumbar lordosis, thoracic kyphosis), pelvic parameters of pelvic tilt (PT), pelvic incidence (PI) and sacral slope (SS) and global balance of sagittal vertical axis (SVA). And the correlations between PSO parameters (level and degree) and spino-pelvic parameters were analyzed. RESULTS: There were significant changes in spino-pelvic parameters including decreased thoracic kyphosis, increased lumbar lordosis, decreased SVA, decreased PT and increased SS. The decreased SVA were 3.94 ± 3.38 and 3.97 ± 1.91 in lumbar/thoracic osteotomy respectively (P > 0.05). The decreased values of PT were 9.71 ± 6.46 and 5.20 ± 2.74 respectively (P < 0.05). Larger degree of osteotomy (≥ 22°) had greater SVA and PT decreases (P < 0.05). CONCLUSION: PSO is a quite useful technique of restoring spinal alignment. Lumbar and larger degrees of osteotomy have greater effects on spino-pelvic parameters.

[Analysis of clinical results and complications of growing rod technique for congenital scoliosis].

OBJECTIVE: To evaluate clinical outcomes of growing rod technique in treating young children with congenital scoliosis. METHODS: From August 2002 to October 2009, 34 patients with congenital scoliosis underwent growing rod procedures including 12 male and 22 female patients. Four patients underwent posterior correction surgeries with single growing rod (single growing rod group), 30 patients underwent posterior correction surgeries with dual growing rod(dual growing rod group). The average age at initial surgery was 6.9(2-13) years. Five patients with severe rigid deformity or kyphosis had an osteotomy at apex vertebra with short segmental fusion followed by dual growing rod technique. The analysis included age at initial surgery and final fusion (if applicable), number and frequency of lengthenings, and complications. Radiographic evaluation including scoliosis, trunk translation, length of T1-S1, thoracic kyphosis and lumbar lordosis was conducted. RESULTS: The follow-up was 40.5 (24-110) months. In single growing rod group, the mean scoliosis Cobb angle improved from 80.9°to 59.5°after initial surgery and was 65.3°at the latest follow-up. T1-S1 length increased from average 24.3 cm to 26.0 cm after initial surgery, and to 31.1 cm at latest follow-up with an increase of 1.05 cm per year. The space available for lung ratio(SAL) in patients with thoracic curves improved from 0.81 to 0.92 at the latest follow-up. Three patients reached final fusion. Four complications occurred in 3 of the 4 patients. In dual growing rod group, the mean scoliosis Cobb angle improved from 72° ± 22°to 35 ± 14° after initial surgery and was 35 ± 17°at the last follow-up or post-final fusion. T1-S1 length increased from (25 ± 5) cm to (29 ± 5)cm after initial surgery and to (33 ± 5)cm at latest follow-up with an average T1-S1 length increase of 1.49 cm per year. The SAL in patients with thoracic curves improved from 0.84 ± 0.08 to 0.96 ± 0.06 at the latest follow-up. Three patients reached final fusion. Complications occurred in 7 of the 30 patients, and they had a total of 13 complications. CONCLUSIONS: Growing rod technique is a safe and effective choice for young children of long, complex congenital scoliosis. It maintains correction achieved at initial surgery while allowing spinal growth to continue. Implants-related complications remain the biggest challenge.

[Analysis of ribs and intraspinal anomalies in congenital scoliosis].

OBJECTIVE: To investigate the incidences and characteristics of the ribs and intraspinal abnormalities in surgical patients with congenital scoliosis. METHODS: We conducted a retrospective study of the medical records and spine radiographs of 118 patients underwent surgical treatment between January 2010 and March 2011 with congenital scoliosis. The average age was 14 years (3-50 years).Fifty-two were male and 66 were female patients. The rib and intraspinal abnormalities were compared in different vertebral anomalies. Pearson's χ(2) test were used to analyze the incidence of anomalies of the ribs and vertebrae, as well as intraspinal anomalies. RESULTS: A total of 57 (48.3%) patients were found to have intraspinal abnormalities.Split cord deformities were identified to be the most common intraspinal anomaly (32.2%), followed by syringomyelia (21.2%).Sixty-nine patients (58.5%) had rib anomalies, which occurring on the concavity of the scoliosis was most frequent. The patients with mixed deformity and failure of segment were found to have a higher incidence of rib anomaly than those with failure formation (χ(2) = 14.05, P < 0.01). The patients with multiple level malformations were found to have significantly higher incidence of rib anomaly than those with single level malformation (χ(2) = 27.50, P < 0.01).Intraspinal anomalies occurred in 42 of 69 patients (60.9%) with rib anomalies and 15 of 49 patients (30.6%) without rib anomalies in congenital scoliosis. The occurrence of intraspinal malformation has significant difference with or without rib anomalies in congenital scoliosis (χ(2) = 10.5, P < 0.01). CONCLUSIONS: The intraspinal malformation is common in patients with mixed defects and failures of segmentation. The rib anomalies occurring on the concavity of the scoliosis is most frequent. The incidence of intraspinal anomaly is significant higher in the patients with rib anomalies than those without rib anomalies. Both the occurrence and type of rib anomaly, combined with vertebral deformity are helpful in forecasting the occurrence of intraspinal abnormalis.

Successful treatment of orbital Langerhans cell histiocytosis with stereotactic radiosurgery: A case report and literature review.

Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplasm arising from the proliferation of pathologic Langerhans cells. LCH has a spectrum of presentations predominantly affecting male pediatric patients. As LCH is a relatively uncommon diagnosis, there is no standard of care for treatment of the disease and treatment is based largely on clinical judgment, lesion characteristics, and symptoms at presentation. Here we present a case of unifocal, isolated orbital LCH in a 19-year-old young man treated initially with surgical resection. Follow-up imaging 2 months later demonstrated significant regrowth of the mass and no other sites of disease. The recurrent orbital disease was treated with stereotactic radiosurgery (SRS) to 7 Gy in one fraction. Near complete resolution of the mass was achieved with no recurrence after 1.5 years of follow-up. SRS for treatment of orbital LCH is a novel treatment not previously described in the literature which may provide benefit in select cases.

4D label-free proteomic analysis of vitreous from patients with rhegmatogenous retinal detachment.

AIM: To identify metabolites, proteins, and related pathways involved in the etiology of rhegmatogenous retinal detachment (RRD) for use as biomarkers in diagnosing and treating RRD. METHODS: Vitreous specimens were collected and liquid chromatography-tandem mass spectrometry analysis was performed using the four-dimensional label-free technique. Statistically significant differentially expressed proteins, gene ontology (GO) terms, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway representations, and protein interactions were analyzed. RESULTS: Nine specimens were subjected to proteomic analysis. In total, 161 proteins were identified as differentially expressed proteins (DEPs), including 53 upregulated proteins and 108 downregulated proteins. GO functional analysis revealed that some DEPs were enriched in neuron-related terms and membrane protein terms. Moreover, KEGG analysis indicated that the cell adhesion molecule metabolic pathway was associated with the greatest number of DEPs. Finally, the evaluation of protein-protein interaction network revealed that DEPs were clustered in neuronal adhesion, apoptosis, inflammation and immune responses, correct protein folding, and glycolysis. CONCLUSION: Proteomic profiling is useful for the exploration of molecular mechanisms that underlie RRD. This study reveals increased expression levels of proteins related to heat shock protein content, glycolysis, and inflammatory responses in RRD. Knowledge regarding biomarkers of RRD pathogenesis may help to prevent the occurrence of RRD in the future.

Exosome-based regenerative rehabilitation: A novel ice breaker for neurological disorders.

Neurological disorders affect a large population, often leading to different levels of disability and resulting in decreased quality of life. Due to the limited recovery obtained from surgical procedures and other medical approaches, a large number of patients with prolonged dysfunction receive neurorehabilitation protocols to improve their neural plasticity and regeneration. However, the poor neural regeneration ability cannot effectively rebuild the tissue integrity and neural functional networks; consequently, the prognoses of neurorehabilitation remain undetermined. To increase the chances of neural regeneration and functional recovery for patients with neurological disorders, regenerative rehabilitation was introduced with combined regenerative medicine and neurorehabilitation protocols to repair neural tissue damage and create an optimized biophysical microenvironment for neural regeneration potential. With the deepening of exosome research, an increasing number of studies have found that the systemic therapeutic effects of neurorehabilitation approaches are mediated by exosomes released by physically stimulated cells, which provides new insight into rehabilitative mechanisms. Meanwhile, exosome therapy also serves as an alternative cell-free therapy of regenerative medicine that is applied in partnership with neurorehabilitation approaches and formulates exosome-based neurological regenerative rehabilitation. In this study, we review the current state of exosome-associated neurorehabilitation. On the one hand, we focus on presenting the varied mediating effects of exosomes in neurorehabilitation protocols of specific neurological pathologies; on the other hand, we discuss the diverse combinations of exosome therapies and neurorehabilitation approaches in the field of neurological regenerative rehabilitation, aiming to increase the awareness of exosome research and applications in the rehabilitation of neurological disorders.