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.

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 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 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.

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

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 investigate the clinical and molecular genetic changes in a Chinese family with oculopha?ryngeal muscular dystrophy(OPMD). Methods We collected the clinical data of the familial members and blood sam?ples from all available 16 familial members, including the proband. The samples were analyzed using modified poly?merase chain reaction amplification and direct sequence analysis. Results Male OPMD patients initially presented with ptosis, followed by pronunciation difficulty, dysphagia and limb weakness whereas female OPMD patients initially pre?sented with swallowing difficulty. Genetic test revealed the abnormal expansions of the GCG trinucleotide repeat from GCG6 to GCG10 in PABPN1 gene in 10 familial members. Conclusions The genetic test and prenatal diagnosis is the key for the prevention treatment of oculopharyngeal muscular dystrophy. The ptosis of eyelid may be the initial symptom for the male patients of oculopharyngeal muscular dystrophy with (GCG)10 mutation.

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 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.