Spondyloepiphyseal dysplasia(SED) includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations.Its main clinical manifestations are short stature(with a disproportionately short-trunk),chest malformation and early-onset joint degeneration.These disorders are broadly categorized into two subtypes: congenita(SEDC) and tarda(SEDT).In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders,372 different conditions were listed,of which 215 were associated with one or more of 140 different genes.SEDC has consistently been shown to correlate with defects in the gene COL2A1 on the long arm of chromosome 12,whose product is needed to form normal type-Ⅱ collagen.The gene responsible for SEDT is SEDL,mapped to the short arm of the X chromosome(Xp22).This paper briefly reviews the progress in the studies of molecular genetics of SEDC,SEDT and other rare forms of SED,which might provide some practical help for genetic and prenatal diagnoses of SED.

Objective: To explore the emergency treatment of acute respiratory tract injury caused by inhalation of phosphorus trichloride.Methods: The clinical data of 16 patients with acute respiratory tract injury caused by inhalation of phosphorus trichloride were analyzed.Intratracheal inhalation of salbutamol sulfate solution and pulmicort repules atomized liquid by aerosol rebreathing method was performed immediately after the diagnosis was made.Anti-inflammatory,fluid replacement,and other symptomatic treatment were given at the same time.Treatment lasted for 3-5 days.Results: The symptoms and signs improved significantly after 3-5 times of inhalation.Among the 16 patients,15 were cured and one improved;the cure rate was 93.75%.The shortest observation period was 2 days and the longest 7 days with an average period of 2.38 days.All cases were followed up for 3 months.No complications were found except one with pleural thickening.Conclusion: Early treatment of acute respiratory tract injury with intratracheal corticosteroid and?2 receptor activator is satisfactory for patients with inhalation of phosphorus trichloride.The method is fast-acting,efficient,with less side-effects,convenient,and easily accepted by patients.

Objective: To examine the associations between three adipokines (omentin-1, nesfatin-1 and apelin) and diabetic retinopathy (DR) among patients with type 2 diabetes mellitus (T2DM), so as to provide the basis for the prevention and control of DR. Methods: The T2DM patients hospitalized in Lishui TCM Hospital from August 2021 to May 2023 were selected and divided into three groups: no diabetic retinopathy (NDR) group, non-proliferative diabetic retinopathy (NPDR) group, and proliferative diabetic retinopathy (PDR) group based on fundus fluorescein angiography. Data on gender, age, and course of T2DM were collected through questionnaires, and serum omentin-1, nesfatin-1, apelin, and related blood biochemical indicators were measured. The associations of omentin-1, nesfatin-1 and apelin with DR were analyzed using a multinomial logistic regression model. Results: A total of 150 T2DM patients were enrolled, including 58 cases in the NDR group, 60 cases in the NPDR group, and 32 cases in the PDR group, with males accounting for 60.34%, 45.00% and 68.75%, respectively. The mean ages were (54.79±14.40), (57.03±12.20) and (57.72±10.70) years, respectively. The median (interquartile range) courses of T2DM were 7.00 (7.75), 10.00 (8.00) and 10.00 (5.00) years, respectively. Compared with the NDR group, the NPDR group had lower levels of omentin-1 and nesfatin-1 and higher level of apelin, while the PDR group had higher level of omentin-1 and lower level of apelin (all P<0.05). Compared with the NPDR group, the PDR group had higher levels of omentin-1 and nesfatin-1 and lower level of apelin (all P<0.05). Multinomial logistic regression analysis showed that omentin-1 level was statistically associated with NPDR (OR=0.503, 95%CI: 0.291-0.871) and PDR (OR=7.862, 95%CI: 2.956-20.910); nesfatin-1 (OR=0.971, 95%CI: 0.953-0.989) and apelin (OR=3.266, 95%CI: 1.817-5.868) levels were statistically associated with NPDR. Conclusion Serum levels of omentin-1, nesfatin-1 and apelin were associated with different stages of DR among T2DM patients.

Objective: To observe the influence of all-trans retinoic acid(ATRA) on the expressions of E-cadherin,heparanase and VEGF in epithelial ovarian carcinoma cell line COC2,and to investigate the anti-metastatic potential and possible action mechanism of ATRA.Methods: We used flow cytometry to examine the expressions of E-cadherin,heparanase and VEGF proteins in the epithelial ovarian carcinoma cell line COC2 treated with different concentrations of ATRA.Results: ATRA significantly increased the expression of E-cadherin and decrease that of VEGF and hepareanse in a dose-dependent manner.Conclusion: ATRA can inhibit cell proliferation,improve cell-cell adhesion and downregulate the expressions of VEGF and heparanse proteins,suggestive of an anti-angiogenic and anti-metastatic potential.

A) in COL1A1 gene resulting in OI in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI.

Objective:To explore the relationship between DNA ploidy heterogeneity and clinical biological behavior on patients with malignant tumor.Methods:The DNA ploidy heterogeneity of tumor tissue was measured in 163 patients with malignant tumors by flow cytometry.The relations were analyzed between DNA ploidy heterogeneity and clinical stage,pathological grade,metastasis rate of patients with malignant tumors.Results:The rates of DNA ploidy heterogeneity were significantly different in different tumors.The rates of heterogeneity raised with increase of clinical stage and pathological grade(P

Objective: To study the glucose,insulin,Cpeptide response and relative safety after orally taking different doses of fructose in type 2 diabetes.Methods: 10 patients with type 2 diabetes,were given 50 g glucose,10 g fructose+40 g glucose,30 g fructose+20 g glucose,40 g fructose+10 g glucose,50 g fructose respectively,the serum glucose,insulin,C-peptide,lactic acid,uric acid,heart ratio and blood pressure were measured at 0 min,15 min,30 min,60 min,120 min and relative safety was observed at the same time.Results: The serum glucose,insulin,C-peptide were significantly lower than 50 g glucose group,the insulin,C-peptide decreased 14.30%,23.73%,40.42%,58.48% and 4.62%,14.32%,7.62%,29.33% in 10F+40G group,30F+ 20G group,40F+10G group and 50F group when compared with 50G group,which showed dose-response relationship.The glycemic index was 91.8,62.4,43.6,37.5 in 10F+40G group,30F+ 20G group,40F+ 10G group and 50F group.No adverse effect was observed during the test.Conclusion: It is beneficial to the protection ? cells of pancreas to orally take different doses of fructose.Fructose taken orally may influence the serum lactic acid.

The aim of this study is to explore the tissue distribution of PEGylated puerarin in acute myocardial ischemia model rats. Healthy male SD rats were randomly divided into two groups (30 each). Both were given PEGylated puerarin at a dose of 488 mg x kg(-1). After 5 min of medication, one group was normal rats, another group with acute myocardial ischemia was established by peritoneal injection of 50 mg x kg(-1) isoprenaline. After administration, the animals were executed at 30, 60, 90, 120, 150 and 180 min, then heart, liver, spleen, lung, kidney were extracted. The content of puerarin in organ tissue was determined by HPLC. The results showed that the AUC of tissue distribution of PEGylated puerarin in normal rats was liver > kidney > heart ≈ spleen > lung > brain. While the AUC of tissue distribution of PEGylated puerarin in acute myocardial ischemia model rats was liver ≈ heart > kidney > lung ≈ spleen > brain. AUC(heart) of PEGylated puerarin in acute myocardial ischemia model rats was 1.7 times than that of the normal rats, and there was significant difference (P < 0.05). Thus, PEGylated puerarin had a good heart-targeting property in early myocardial infarction area, drugs could accumulate in the ischemic myocardium. It provided important information for further study and clinic use of PEGylated puerarin.

Objective: To report a case of azoospermia with a karyotype of 45,X,der(Y)t(Y;13)(q11.2;q12),-13,accompanied with slight bilateral gynecomastia and multiple nodules.Methods: The karyotype was identified by karyotyping and FISH,and the breakpoints of the Y chromosome and the copy number of the BRCA2 gene in 13q12 determined by PCR-STS and DNA polymorphic analysis.The testis and nodule tissues of the patient were obtained for biopsy.Results: FISH confirmed SRY and centromere of the Y chromosome on the questionable 13 chromosome and the karyotype to be 45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+).PCR-STS showed the deletion of regions AZFa,b and C,with a breakpoint located inYq11.1 below sY82.No deletion of the BRCA2 gene was observed.The patient was diagnosed with Sertoli cell-only syndrome by testicular biopsy and with angiolipomata by pathological examination of the nodule tissue.Conclusion: The patient's phenotype of complete masculinization could be attributed to presence of the SRY gene,and his azoospermia with small testis to the absence of a fragment from Yq11.1 to Yqter.However,the molecular mechanism of angiolipoma remains unknown.

Objective To report a familial dentinogenesis imperfecta type Ⅱ (DGI type Ⅱ) with a novel splicing mutation in DSPP (dentin sialophosphoprotein) gene.Methods Based on the result of linkage analysis performed previously to map the candidate gene DSPP in the family, the promoter,the first four exons and exon-intron boundaries of DSPP were directly sequenced for the members of the DGI type Ⅱ family. Denaturing high performance liquid chromatography (DHPLC) analysis was performed to confirm the results of sequencing.Results A novel splicing mutation of 23 bp deletion in intron 2 of DSPP gene was identified by DNA sequence analysis. The mutation changed acceptor site sequence from CAG to AAG, and might result in functional abolition of possible branch point site in intron 2. DHPLC result was consistent with that of sequencing. The mutation may be identified in all affected individuals, but not found in normal members of the family and 50 controls.Conclusion These results suggest the deleted mutation of DSPP gene causes DGI type Ⅱ in the family. The mutation has not been reported before.