Objective To investigate the clinical characteristics and diagnostics of Kozlowski type spondylometaphyseal dysplasia (SMDK). Methods The clinical features, laboratory tests and genetic testing of one SMDK case were analyzed. Re-sults A eight-year-old male patient had more than 6 years course of disease. The clinical manifestations were stubby limbs, ifn-gers and toes, varus deformity, knee valgus deformity, scoliosis and lordosis and severe metaphyseal changes. The heterozygous mutations were detected in TRPV4 and NXX3-2 genes. Conclusions Typical clinical features combined with genetic diagnosis facilitate early detection and accurate diagnosis of SMDK.

0.05 ). Conclusion FTY720 is an effective specific and reversible immunosuppressant.

Aged ; Aging ; drug effects ; Arteriosclerosis ; drug therapy ; Dementia ; drug therapy ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Hyperlipidemias ; drug therapy ; Medicine, Chinese Traditional ; Phytotherapy ; Yang Deficiency ; drug therapy ; Yin Deficiency ; drug therapy

Background Light leads to the damage of retinal function and structure by promoting the reproduction of radicals and lipid peroxides when retina is exposed to an intense light environment for a long time.It is necessary to study how to protect the retina against light-induced injury in ophthalmology.Objective The aim of this study was to evaluate the effect of anthocyanidin extracts in preventing retinal photic damage.Methods Eighteen clean male Sprague-Dawley (SD) rats were randomly assigned to normal saline group,anthocyanidin group and mixed (hydrogen-rich saline (HRS) + anthocyanidin,1:1 in volume) group and 6 rats for each.The electroretinogram (ERG) with international standardized 5 items was recorded from all the rats before experiment.Normal saline,anthocyanidin extracts or mixed solution of 5 ml/kg were intraperitoneally injected in the three groups,respectively,for consecutive 5 days.Then the diffused light with the luminance intensity of (5000±300)lx was used to irradiate the right eyes of the rats for consecutive 3 hours during 19:00 through 7:00 in a device made by our laboratory,and the left eyes were covered at the same time.The ERG was repeatedly recorded 5 days after light irradiation.The rats were sacrificed at the end of the experiment and retinal sections were prepared for the histopathological examination.The functional and structural changes of retinas were compared among the different groups.The use of the rats followed the Statement of ARVO.Results The differences of rat body weight were not statistically significant among the three groups (before experiment:F =0.472,P =0.841 ; after experiment:F =0.658,P=0.762).No any significant difference was found in scotopic 0.01 ERG b wave,scotopic 3.0 ERG a and b waves,scotopic 3.0 oscillatory potentials,photopic 3.0 ERG b wave and 3.0 flicker P1wave between the left eyes and the right eyes in the three groups before experiment (P＞0.05).The amplitudes of various waves of ERG were significantly declined in the right eyes compared with the left eyes (P＜0.05).The mean differential values of scotopic 0.01 ERG b wave,scotopic 3.0 ERG a and b waves,scotopic 3.0 oscillatory potentials were significantly different(F =4.594,P=0.029; F=3.834,P=0.037; F=12.823,P=0.000; F=3.976,P=0.032),but those in photopic 3.0 ERG b wave were not statistically significant (F =1.488,P =0.259).Compared with the normal saline group,the differential values of scotopic 0.01 ERG b wave,scotopic 3.0 ERG a and b waves,scotopic 3.0 oscillatory potentials were all reduced in the anthocyanidin group and mixed group (P ＜ 0.05).The cells of outer nuclear layer were decreased in the right eyes in the three groups compared with the left eyes,especially around the optic nerve head and the upside of the retina,with significant differences between them (P＜0.05),and those in the anthocyanidin group and mixed group were significantly less than normal saline group (P＜0.05).Conclusions Anthocyanidin has a protective effect on light-induced retinal damage of SD rats.The protective effect of anthocyanidin extracts is similar to the integrated effect of the mixed group.

Objective To study the possible pathogenesis of TNBS (2,4,6-trinitrobenzenesulfonic acid)-induced inflammatory bowel disease (IBD) in a mouse model by analyzing histological changes in colon and the expression of cytokines and transcription factor RORγt related to T cell subsets in mesenteric lymph nodes.Methods Female BALB/c mice aged 6-8 weeks were randomly grouped into two groups: IBD model and normal control groups.The mouse model of IBD was established by treating mice with 200 μl of 5％ TNBS/50％ ethanol solution (1∶1) through intestinal instillation, while the mice in the normal control group were instilled with PBS.Pathological changes in colon samples of mice were observed.Real-time PCR was performed to detect the dynamic expression of Th1 cytokines (IL-2, IFN-γ and IL-12p40), Th2 cytokine (IL-4), Treg-related cytokine (IL-10), Th17 cell-related cytokines (IL-17, IL-21 and IL-23) and transcription factor RORγt in mesenteric lymph nodes.Results The mice in the model group begun to show abnormal vital signs such as diarrhea, loss of weight and reduced activity, and mild hyperemia of intestinal mucosa and edema from the third day after modeling.Slight lesions were observed in histological slices of colon tissues stained with hematoxylin and eosin (HE).The expression of IL-21, IL-23 and IL-17 at mRNA level were significantly increased, while the expression of other cytokines showed no significant change.On the sixth day after modeling, many pathological symptoms and intestinal mucosal lesions were aggravated, and marked infiltration of inflammatory cells was observed in histological slices of colon tissues, which indicated that the IBD model was successfully induced by TNBS.Compared with the control group, the IBD model group showed significantly enhanced expression of IL-2, IL-12p40 and IL-10 in mesenteric lymph nodes at mRNA level on the sixth day after modeling.Although the expression of IL-21, IL-23, IL-17 and RORγt at mRNA level on the sixth day were down-regulated to different extent as compared with those on the third day, they were still significantly higher than those of the control group.Conclusion Th17 cell-related cytokines play an important role in the early stage of TNBS-induced IBD.With the progression of the disease, both Th1 and Th17 cells are involved in the immunopathological injury of colon tissues.

Objective To investigate the influence of FTY720 on the lymphocytes and their recovery after withdrawal of FTY720,and on the changes in T cell subsets of inbred mice so as to direct the administration of FTY720. Methods Male inbred C57/bl mice were given FTY720 at the dose of 3 mg/kg per day by oral gavage once a day for 14 days. The PBLs were counted and T cell subsets were analyzed by flow cytometry at the selected time points. Results When FTY720 was administrated, the PBLs showed a sharp decrease and reached the minimum 4 hours later.Then the PBLs remained stable during the whole pe- riod of administration.The PBLs didn’t restore immediately when the reagent was withdrawn,but increased slowly 2 weeks later and completely recovered 6 weeks later.The changes of T cells were similar to PBLs.CD - 8 subsets showed relatively higher sensitivity to FTY720. Conclusions FTY720 is a safe reagent which has rapid and specific effects on PBLs,and the changes in PBLs are reversible.The effect of FTY720 on T cell subsets is similar to that on PBLs.CD - 8 T cells are relatively more sensitive to FTY720.

Chronic lymphocytic leukemia (CLL) is an oncologic disease with clonal proliferation of lymphocytes. In recent years, great advances have been made in the basic and clinical research of CLL. The 62nd American Society of Hematology Annual Meeting in 2020 presented a detailed report on the latest advance in basic research on these diseases, providing a deeper understanding of how CLL occurs and develops, and playing a guidance role in the clinical treatment.

Objective To study the imaging of arteriovenous malformation(AVM)and cerebral cavernous angiomas(CCA)by 3D-TOF MRA and SWI.Methods The clinical manifestations and MR imaging characteristics of 44 cases with intracranial vascular malformations were retrospectively analyzed.The MRA imaging and SWI imaging of 26 CCA cases and 18 AVM cases were compared.Results The location,size,input.artery and output vein of arteriovenous fistula were clearly showed by 3D-TOF MRA.3D-TOF-MRA did not show the artery of hemangioma.The imaging of SWI can clear display the number and increase of cavernous hemangioma,comparing with the conventional sequence.Moreover,SWI was effective to show the tortuous veins of arteriovenous malformation.However,it was not able to directly show the overview of abnormal blood vessels and big arteries such as input artery.Conclusion 3D-TOF MRA technologies is powerful to show the arteriovenous malformation with high flow velocity and low resistance(Such as AVM),while SWI has advantages in showing the cavernous hemangioma with low flow velocity and small diameters.Joining 3D-TOF-MRA and SWI techniques will improve the detection of cerebral vascular malformations and reduce the misdiagnosis and missed diagnosis.

BACKGROUND:Nowadays,the internal fixation materials for the clinical treatment of femoral intertrochanteric fractures are broadly divided into two categories: intramedulary fixation system and extramedulary fixation system.Artificial femoral head replacement can be selected for unstable intertrochanteric fractures.However,the effects of diverse treatments usualy lack of macroscopical evaluation.OBJECTIVE:To investigate and compare the clinical effects of different surgical treatments for femoral intertrochanteric fractures in the elderly.METHODS:168 elderly patients with intertrochanteric fractures,who were treated in the Department of Orthopedics,Beijing Municipal Corps Hospital of Chinese People's Armed Police Forces from June 2005 to June 2010,were enroled in this study.They were treated by screw plate fixation system (dynamic hip screw,dynamic condylar screw),intramedulary fixation system (Gamma 3 nail,expandable intramedulary nail) and artificial femoral head replacement,including 69 males and 99 females,at the age of 75-94 years,averagely 81.4 years.According to Evans type,there were 20 cases of type Ⅰ,43 cases of type Ⅱ,57 cases of type Ⅲ,33 cases of typeⅣ and 15 cases of type Ⅴ.Operative time,blood loss,weight-bearing ambulation time,and hip function were compared and evaluated in patients of each group.RESULTS AND CONCLUSION:After treatment,patients were folowed up for 14-39 months.At 12 months after treatment,Harris score was used to assess hip function in the affected side.Fracture was healed within 12 months.There was no significant difference in excelent and good rate among four groups (P＞0.05).Operative time and blood loss were significantly better in the expandable intramedulary nail group than in the other groups (P＜ 0.05).Weight-bearing ambulation time was significantly better in the artificial femoral head group than in the other groups (P＜ 0.01).Results suggest that according to fracture typing,in combination with osteoporosis in elderly patients,suitable repair method could improve therapeutic effects for femoral intertrochanteric fractures,and reduce postoperative complications.Dynamic hip screw is firstly selected for Evens types Ⅰ and Ⅱ stable intertrochanteric fractures.The intramedulary fixation system can be selected for unstable intertrochanteric fractures as Evans types Ⅲ-Ⅴ.Artificial hip arthroplasty is good for elderly patients with unstable intertrochanteric fractures as wel as severe osteoporosis.

Purpose With the progression of brain tissue aging, the transport and drainage characteristics of metabolites and secretory products for neurons in extracellular space occurs irreversible change. This paper aims to investigate and quantify MR tracer diffusion characteristics in cerebral interstitial fluid of elderly SD rats. Materials and Methods MR contrast agent Gd-DTPA was injected into the caudate nucleus of two groups of rats including 8 in experimental group (15-17 month old) and 15 in control group (7-10 month old). MR scan was performed at 0.25 h, 0.5 h, 1 h, 2 h, 3 h and 4 h to observe the dynamic distribution in the caudate and measure the diffusion and clearance rate. Results There was no statistically significant difference in diffusion rate and D* between control group with (3.32±0.70)×10-4 mm2/s and experimental group with (3.25±0.46)×10-4 mm2/s (t=1.739, P>0.05). The clearance rate k' was significantly different between control group (0.62±0.12)×10-4/s and experimental group (0.29±0.08)×10-4/s (t=11.602, P<0.05). Conclusion The degeneration of aging brain tissue changes the composition of extracellular space resulting in decreased speed of ISF clearance. This may cause accumulation of metabolites which eventually triggers a variety of age-related diseases.