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.

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 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 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 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.

Objective To report the prenatal molecular diagnosis for two gravida in a family with spondylepiphyseal dysplasia congenita(SEDC)caused by G504S mutation of COL2A1 gene.Methods DNA of the two fetuses was extracted from amniotic fluid at the 19+3 and 18+6 weeks of gestation respectively.Direct sequencing of two samples were performed after amplifying exon 23 of COL2A1 containing the potential mutation.The femur length and biparietal diameter of the first fetus were measured by sonographic scans every two weeks from 17+3 weeks to 27+3 weeks of gestation,and for the second fetus these parameters were measured from 16+1 to 19+1 weeks of gestation.Results Sequncing analysis revealed the first fetus and his mother presented the same mutation which is specifically associated with SEDC,but the second fetus did not show the mutation of COL2A1 gene.Biparietal diameters of the both fetuses were appropriate for gestational age.Femur length of the second fetus was normal for gestational age but that of the first fetus was shortened evidently after the 23 week of gestation.The parents of the first fetus determined to terminate the pregnancy.A medical termination was carried out at 27+5 weeks of gestation and a male fetus with a relatively large head and short limbs was delivered.The radiological findings of the fetus were consistent with SEDC including generalized platy spondesand shortened long bones.Conclusions Prenatal molecular diagnosis is important for the fetus with risk of SEDC and useful for genetic counseling.Genotype of fetus with risk of SEDC can be identified before sonographic scan.Molecular genetic analysis in conjunction with sonographic monitoring was helpful in prenatal diagnosis of SEDC.

Objective:To investigate a large Chinese family in which 9 patients over 4 generations were diagnosed with a form of autosomal dominant spondyloepimphyseal dysplasia(SEMD).Mothods:X-Ray radiograph of proand at 18-month showed absence of secondary ossification centra of femoral heads.His father at 24-year presented severe spondyloepiphyseal changes that principally involved the vertebral bodies,the femoral necks and femoral heads and characterized by generalized platyspondyly with thoracolumbar scoliosis,irregular femoral necks,absent ossification of femoral heads,flat acetabular roofs and coxa vara.The other patients had similar clinical and radiological features.Haplotyping was performed with leukocyte DNA for 5 micosatellite repeat markers from chromosome 12 and the result showed COL2A1 gene as a candidate gene.A total of 54 exons and promoter of COL2A1 gene were amplified and sequenced from all patients and available normal relatives.In addition,exon 23 of COL2A1 gene was amplified and sequenced from 10 controls simultaneously.Results:All patients were identified a 1510(G→A) transition in exon 23 of COL2A1 gene that caused a change from a COL2A1 coding region in available glycine to serine at amino acid position 504.No mutation was found in the normal relatives and 10 controls. Conclusion:The mutation of COL2A1 gene is responsible for this form of SEDC of the family.This is the first familial report of SEDC relating to 1510G→A mutation of COL2A1 gene.The detailed clinical radiogram data will be useful for extending the phenotypic spectrum of type Ⅱcollagenopathies.