Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

OBJECTIVES: In the early stage of central cervical disc herniation, clinical symptoms may be mild. However, as the spinal cord becomes compressed by herniated nucleus pulposus tissue, progressive edema and degeneration may occur, resulting in more severe clinical manifestations, including limb weakness, bladder and bowel dysfunction, spastic paraplegia of the lower extremities, and even respiratory difficulty. The spinal endoscopic Key-hole technique is widely applied in treating radiculopathic cervical spondylosis and has demonstrated good clinical outcomes. This study aims to analyze and summarize the technical points and therapeutic efficacy of the far lateral Key-hole technique in the treatment of central cervical disc herniation, providing reference for clinical application. METHODS: Eight patients with central cervical disc herniation treated with the far lateral Key-hole technique were included as the experimental group. Another 8 patients who underwent single-level anterior cervical diskectomy and fusion (ACDF) during the same period were selected as the control group. Data collected included gender, age, intraoperative blood loss, incision length, and length of hospitalization. Pain severity was evaluated using the Visual Analogue Scale (VAS); cervical function was assessed using the Japanese Orthopaedic Association (JOA) score; and cervical disability was measured by the neck disability index (NDI). Radiological outcomes were assessed using disc height index (DHI), cervical Cobb angle, and operative segment Cobb angle. RESULTS: Compared with the control group, the experimental group had significantly less intraoperative blood loss, shorter incision length, and shorter hospital stay (all P<0.05), while there was no significant difference in operation time (P>0.05). Postoperative VAS and NDI scores in both groups were significantly lower than preoperative values, and JOA scores significantly improved (P<0.05). No significant differences were noted between the two groups preoperatively (P>0.05). Postoperatively, the experimental group showed significantly lower VAS and NDI scores and higher JOA scores than the control group (P<0.05). There was no statistical significance in DHI before and after surgery in the experimental group (P>0.05), while the DHI increased significantly postoperatively in the control group (P<0.05). Postoperative DHI in the experimental group was significantly lower than in the control group (P<0.05). No significant differences were observed in the cervical Cobb angle either within or between groups (all P>0.05). The operative segment Cobb angle increased significantly after surgery in the control group (P<0.05), while no other operative segment angle changes were statistically significant (all P>0.05). CONCLUSIONS The far lateral Key-hole technique offers advantages in treating central cervical disc herniation, including reduced intraoperative bleeding, smaller incision length, shorter hospitalization, and improved postoperative pain relief. Additionally, the technique does not affect cervical physiological curvature or stability in the short term, making it suitable for clinical application.
Humans ; Intervertebral Disc Displacement/surgery* ; Cervical Vertebrae/surgery* ; Male ; Female ; Middle Aged ; Adult ; Diskectomy/methods* ; Treatment Outcome ; Spinal Fusion/methods* ; Endoscopy/methods*

To investigate the anti-atherosclerotic effects of dietary hesperidin and naringin on ather-osclerosis in rabbits.Twenty-four adult healthy male New Zealand Large White rabbits were ran-domly assigned to four groups based on one factor:control(Con),model(Mod),hesperidin(HP),and naringenin(NG),each containing six rabbits and housed in solitary cages.During the experi-mental period,the control group received normal feed;the model group was fed high-fat for 30 d to establish the atherosclerosis,(AS)model and continued to be fed high-fat feed;the hesperidin and naringenin groups were fed high-fat for 30 d and then underwent AS modeling,and at a later stage,150 mg of hesperidin(or naringenin)was added to the diets at a rate of 1.5 mg per kg of di-et,respectively,for 30 d.Relative body quality,blood lipids,oxidation,and inflammatory factor lev-els were all assessed.At the end of the test period,the test rabbits were sacrificed to obtain the common carotid artery for histopathological section HE staining,Oil red O staining,and Sirius red staining in order to observe vascular tissue structure,lipid and inflammatory cell infiltration,and e-lastic plate and elastic fiber damage.The results indicated that the relative body quality of the mod-el,HP and NG groups increased rapidly,and the difference with the control group within the same period was highly significant(P＜0.01);The HP and NG interventions significantly decreased to-tal cholesterol(TC)and low-density lipoprotein cholesterol(LDL-C)levels(P＜0.01),while also leading to a significant increase in high-density lipoprotein cholesterol(HDL-C)levels(P＜0.01);MDA levels exhibited a significant decrease(P＜0.01),while SOD levels showed a notable in-crease(P＜0.01)following the HP and NG interventions;After HP and NG interventions,TNF-α and IL-1 were regressed(P＜0.01)and IL-10 was significantly elevated(P＜0.01);Compared with the control group,the model group showed approximately 41.8 and 2.5 fold thickening of the maximal endo-medial membrane,respectively,and the HP and NG interventions showed approxi-mately 13 and 15 fold thickening of the maximal endo-medial membrane,and both of the maximal medial membranes thickened by approximately 1.4 fold;Staining of pathological sections showed that HP and NG intervened to significantly reduce inflammatory cell infiltration,deposition of lipid components,slight thickening of the endothelium,and intact fibroblastic components.The results showed that the addition of HP and NG to diets could regulate blood lipids and exert anti-inflam-matory and antioxidant effects by inhibiting the expression of inflammatory factors and oxidizing factors,showing significant anti-AS effects,and the two effects were comparable.

Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

To explore the effects and processes of various hesperidin(HP)dosages on atherosclero-sis(AS)in rabbits caused by high-fat diet in conjunction with anhydrous ethanol arterial damage.A total of twenty-five healthy male rabbits,six months of age,were chosen,given a week to accli-mate and feed,and then randomly assigned to five groups:the model group,the control group,and the groups receiving low,middle,and high doses of HP.The control group received normal feed during the experiment;the model group received high-fat feed for 30 days,after which the common carotid artery was perfused with anhydrous ethanol to create a pathological model of AS;the HP low,middle,and high dose groups received high-fat feed continuously for 30 days based on the model group,with 100,150,and 200 mg/kg of HP added to the diets,respectively.The blood cell counts,including white blood cells(WBC),lymphocytes(lym),monocytes(Mon),red blood cells(RBC),hemoglobin concentration(HGB),platelet count(PLT),and granulocytes were measured using hematology analyzer.The serum total cholesterol(TC),triglycerides(TG),low density lipo-protein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C)were analyzed u-sing biochemical analyzer.An ELISA kit was used to measure the expression of inflammatory factors and the level of oxidative factors,while a blood cell analyzer was used to measure the quan-tity of blood cells and a biochemical analyzer was used to measure the level of four kinds of blood lipids.At the end of the test,the test rabbits were sacrificed to take carotid arteries for pathological tissue sections HE,Oil Red O and Masson staining to observe the structure of the wall with lipid infiltration and other conditions.The results indicated a significant increase in body weight in the model group compared to the HP dose group(P＜0.01).In comparison to the model group,HP in-tervention significantly reduced the levels of WBC,Mon,PLT,and the percentage of Gran(P＜0.01).Additionally,HP intervention significantly decreased serum inflammatory cytokines,inclu-ding TG,TC,and LDL-C,while increasing HDL-C levels(P＜0.01).The plasma levels of TNF-αand IL-1 decreased significantly following HP intervention(P＜0.01),whereas the level of IL-10 increased significantly(P＜0.01).Furthermore,SOD activity was significantly higher(P＜0.01)and MDA content was significantly lower(P＜0.01)after HP intervention.Histological examina-tion revealed that HP intervention significantly reduced lipid deposition in tubular walls,inflamma-tory cell infiltration,and the extent of elastic fiber damage.These results suggest that HP may at-tenuate atherosclerosis in rabbits by modulating lipid levels,inflammatory factors,and oxidative stress.

To investigate the anti-atherosclerotic effects of dietary hesperidin and naringin on ather-osclerosis in rabbits.Twenty-four adult healthy male New Zealand Large White rabbits were ran-domly assigned to four groups based on one factor:control(Con),model(Mod),hesperidin(HP),and naringenin(NG),each containing six rabbits and housed in solitary cages.During the experi-mental period,the control group received normal feed;the model group was fed high-fat for 30 d to establish the atherosclerosis,(AS)model and continued to be fed high-fat feed;the hesperidin and naringenin groups were fed high-fat for 30 d and then underwent AS modeling,and at a later stage,150 mg of hesperidin(or naringenin)was added to the diets at a rate of 1.5 mg per kg of di-et,respectively,for 30 d.Relative body quality,blood lipids,oxidation,and inflammatory factor lev-els were all assessed.At the end of the test period,the test rabbits were sacrificed to obtain the common carotid artery for histopathological section HE staining,Oil red O staining,and Sirius red staining in order to observe vascular tissue structure,lipid and inflammatory cell infiltration,and e-lastic plate and elastic fiber damage.The results indicated that the relative body quality of the mod-el,HP and NG groups increased rapidly,and the difference with the control group within the same period was highly significant(P＜0.01);The HP and NG interventions significantly decreased to-tal cholesterol(TC)and low-density lipoprotein cholesterol(LDL-C)levels(P＜0.01),while also leading to a significant increase in high-density lipoprotein cholesterol(HDL-C)levels(P＜0.01);MDA levels exhibited a significant decrease(P＜0.01),while SOD levels showed a notable in-crease(P＜0.01)following the HP and NG interventions;After HP and NG interventions,TNF-α and IL-1 were regressed(P＜0.01)and IL-10 was significantly elevated(P＜0.01);Compared with the control group,the model group showed approximately 41.8 and 2.5 fold thickening of the maximal endo-medial membrane,respectively,and the HP and NG interventions showed approxi-mately 13 and 15 fold thickening of the maximal endo-medial membrane,and both of the maximal medial membranes thickened by approximately 1.4 fold;Staining of pathological sections showed that HP and NG intervened to significantly reduce inflammatory cell infiltration,deposition of lipid components,slight thickening of the endothelium,and intact fibroblastic components.The results showed that the addition of HP and NG to diets could regulate blood lipids and exert anti-inflam-matory and antioxidant effects by inhibiting the expression of inflammatory factors and oxidizing factors,showing significant anti-AS effects,and the two effects were comparable.

To explore the effects and processes of various hesperidin(HP)dosages on atherosclero-sis(AS)in rabbits caused by high-fat diet in conjunction with anhydrous ethanol arterial damage.A total of twenty-five healthy male rabbits,six months of age,were chosen,given a week to accli-mate and feed,and then randomly assigned to five groups:the model group,the control group,and the groups receiving low,middle,and high doses of HP.The control group received normal feed during the experiment;the model group received high-fat feed for 30 days,after which the common carotid artery was perfused with anhydrous ethanol to create a pathological model of AS;the HP low,middle,and high dose groups received high-fat feed continuously for 30 days based on the model group,with 100,150,and 200 mg/kg of HP added to the diets,respectively.The blood cell counts,including white blood cells(WBC),lymphocytes(lym),monocytes(Mon),red blood cells(RBC),hemoglobin concentration(HGB),platelet count(PLT),and granulocytes were measured using hematology analyzer.The serum total cholesterol(TC),triglycerides(TG),low density lipo-protein cholesterol(LDL-C),and high-density lipoprotein cholesterol(HDL-C)were analyzed u-sing biochemical analyzer.An ELISA kit was used to measure the expression of inflammatory factors and the level of oxidative factors,while a blood cell analyzer was used to measure the quan-tity of blood cells and a biochemical analyzer was used to measure the level of four kinds of blood lipids.At the end of the test,the test rabbits were sacrificed to take carotid arteries for pathological tissue sections HE,Oil Red O and Masson staining to observe the structure of the wall with lipid infiltration and other conditions.The results indicated a significant increase in body weight in the model group compared to the HP dose group(P＜0.01).In comparison to the model group,HP in-tervention significantly reduced the levels of WBC,Mon,PLT,and the percentage of Gran(P＜0.01).Additionally,HP intervention significantly decreased serum inflammatory cytokines,inclu-ding TG,TC,and LDL-C,while increasing HDL-C levels(P＜0.01).The plasma levels of TNF-αand IL-1 decreased significantly following HP intervention(P＜0.01),whereas the level of IL-10 increased significantly(P＜0.01).Furthermore,SOD activity was significantly higher(P＜0.01)and MDA content was significantly lower(P＜0.01)after HP intervention.Histological examina-tion revealed that HP intervention significantly reduced lipid deposition in tubular walls,inflamma-tory cell infiltration,and the extent of elastic fiber damage.These results suggest that HP may at-tenuate atherosclerosis in rabbits by modulating lipid levels,inflammatory factors,and oxidative stress.

Objective To study the accuracy of collapsed cone convolution ( CCC) and anisotropic analytical algorithm ( AAA) in dosimetric calculation on the air cavity interface. Methods A BEAMnrc/EGSnrc Monte Carlo ( MC ) simulation was performed on a Varian Trilogy linear accelerator. The IBA Dosimetry “blue phantom” 3D scanning system was used to verify the accuracy and reliability of the MC simulation. Central axis depth dose distribution and lateral dose profile in a water?equivalent phantom with variously sized air cavities were calculated by CCC and AAA. The obtained depth dose distribution and lateral dose profile were compared with those by MC simulation and EBT2 film, respectively. Results Both CCC and AAA overestimated the dose on the air cavity interface. In spite of some errors, CCC had a higher accuracy than AAA. The errors were mainly related to computational grid, field size, photon energy, cavity size, and the number of fields. Conclusion Electronic disequilibrium on the air cavity interface should be taken into account when CCC and AAA are used for dosimetric calculation in treatment planning system.

Objective To study the preemptive analgesic effect of dexmedetomidine (DEX) combined with ropivacaine in spine posterior approach. Methods A total of 75 patients were randomly divided into three groups: group A(control), group B (DEX infusion until the end of surgery), group C (DEX infusion continued until 24h after operation), and all three groups received local infiltration with ropivacaine around the wound after operation. Results Being compared with group C, the visual analogue scale (VAS) in group B and C was reduced in 6 to 72 h after extubation; the time of ini-tial postoperative analgesia was delayed and the total amount of tramadol was also reduced in group B and C (P<0.05). The level of serum cortisol was decreased in group B and C (P<0.05). Conclusion Continual infusion of DEX com-bined with ropivacaine can significantly reduce postoperative pain and the amount of analgesic for patients with spine posterior approach surgery.

Objective To introduce and evaluate the characteristics of a GyroKnife Digital Cobalt-60 System for stereotactic radiotherapy and radiosurgery in mechanical aspect.Methods To test the radiation safety,the dose rate required for radiation protection was measured by using an ionization survey meter ( Inovision Model 451 B,Cleveland,OH ).Micrometer was used to verify the accuracy of the table in movement and protractor to verify the rotation movement range.The 160 mm diameter polystyrene spherical phantom and film were used in measurement of the radiation Full Width at Half Maximum.And the difference between radiation isocenter and mechanical isocenter was also verified.Results Clinical requirement in radiation protection was met.The maximum error of table movement accuracy was 0.2 cm at Z axis; the maximum error of gantry movement accuracy was 0.1°.For all the collimators,radiation Full Width at Half Maximum ( FWHM ) was 2.55,5.40,10.50,and 18.55 mm and average penumbra was 5.0,12.4,30.1,and 51.5 mm,respectively.The maximum difference between mechanical center and radiation center was 1.41 mm.Conclusions Stereotactic radiotherapy and radiosurgery has good mechanical characteristics and is suitable clinic applications.