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 Joint-PhD program is an effective way to cultivate international creative talents.Survey on intrinsic value factors of this mode is significant to improve the quality of medical education.Methods According to the questionnaire results and reports of 104 medical doctorates who attended the Joint-PhD program in PUHSC,Baldrige Performance Excellence was taken as theoretical framework.Results It showed that index influencing the quality of Joint-PhD education include social responsibility;stakeholders' expectation and market requirements;information and knowledge management support and so on.Conclusion In the process of doctoral education,advocating value of social responsibility,paying attention to the expectations of stakeholders,and attaching importance to the validity of education management services help to understand the intrinsic value of the quality management from the top universities in the world,in order to fundamentally improve the quality of doctoral education.

Objective:To investigate the complication and compliance of different supine time and the degree of obedience in children with leukemia after intrathecal chemotherapy.Methods:A total of 553 children with leukemia after intrathecal chemotherapy from April 1, 2017 to March 28, 2019 in Beijing Children′s Hospital Affiliated to Capital Medical University were selected. Children who received intrathecal injection from April 1, 2017 to December 31, 2017 were selected as control group(274 cases), from January 1, 2018 to March 28, 2019 were selected as research group(279 cases). The children in research group were supine 2 hours but control group were supine 4 hours after intrathecal. The complications that occurred after injection and within one week after injection and compliance were observed.Results:Finally, 457 children included in this study, there were 235 cases in research group and 222 cases in control group. The number of cases of limb numbness and local pressure reddening in the research group and the control group were 18, 20 and 31, 34, respectively, with statistically significant differences between the two groups( χ2 values were 4.74, 5.07, P<0.05). After intrathecal injection, the patients' compliance with the time of supine removal was completely acceptable to the research group, relatively acceptable, acceptable, and required efforts to adhere to the number of cases were 65, 83, 42, 45, respectively, while the control group were 34, 50, 76, 62, respectively, the differences were significant ( χ2 value was 30.04, P<0.05). Conclusions:Supine for 2 hours after intrathecal injection can reduce the incidence of complications and improve compliance, which is safe and feasible. So, supine for 2 hours after intrathecal injection is recommended.

Objective To predict the critical point of FⅧinhibitor development using the results of incubated APTT mixed test by ROC curve .Methods We retrospectively analyzed the results of APTT mixed test and FⅧinhibitor assay in 343 specimens of children with hemophilia A and performed the ROC curve analysis to define the optimum critical point of FⅧinhibitor .Results The area under the ROC curve (AUC) was 0.973 (95% CI 0.960-0.986,P<0.01).For incubated APTT mixed test, the optimum critical point of inhibitor surveillance (Youden value, 0.824) was 39.7s (sensitivity 87.2%, specificity 95.2%), 53.4s was the optimum cut-off point to distinguish low-titer from high-titer FⅧinhibitor (sensitivity94.6%, specificity 95.0%).Conclusion Our results showed that the APTT mixed test could be taken as a screening test to estimate the existence of inhibitor and distinguish high or low titer .

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.

OBJECTIVETo study the anatomy basis for the clinical application of the adjacent horn shaped perforator fasciocutaneous flap for the reconstruction of small and medium-sized defects in the trunk area.

METHODS(1) Ten adult antiseptic cadavers (20 sides) were perfused with red latex. The skin blood supply, line of the blood vessels, branches in accordance with the distribution and crossing were observed. (2) Fifteen cases with defects in the trunk were treated with the adjacent horn shaped perforator fasciocutaneous flaps. The defects size ranged from 5 cm x 5 cm to 13 cm x 13 cm with the size of the flaps ranging from 10 cm x 6 cm to 35 cm x 15 cm.

RESULTSThe trunk skin is supplied by mainly 17 groups arteries such as thyrocervical trunk, internal thoracic artery, posterior intercostal arteries, superior epigastric artery, arteria epigastrica inferior, lumbar arteries, and so on. The perforators (diameter > 0.5 mm) numbers are about 20, 40, 24, 6, on the chest, abdomen and perineum, upper back, waist, respectively. All the flaps survived completely with primary healing both on donor and recipient sites. The flaps color, texture, function and appearance were satisfactory during the follow-up period of 1-24 months.

CONCLUSIONSThe adjacent horn shaped perforator fasciocutaneous flap should be designed flexibly. The defects in the donor sites could be closed directly without skin graft. It is an effective, easy and ideal method for the reconstruction of large defects in the trunk.

Adolescent ; Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Perforator Flap ; Skin Transplantation ; Torso ; surgery ; Young Adult

Abstract A chiral separation and residue determination method for cis-epoxiconazole enantiomers in apple, grape and tea samples was developed and validated by ultra performance convergence chromatography combined with quadrupole time-of-flight mass spectrometry ( UPC2-QTOF/MS) . The Chrial CCA column was used to separate cis-epoxiconazole enantiomers and the chromatography conditions ( mobile phase modifier and proportion, column temperature, automated backpressure regulator, and auxiliary solvent ) were optimized. Samples were extracted by acetonitrile, and respectively purified by Cleanert TPT or Pesti-Carb solid phase extraction ( SPE ) columns, then analyzed by UPC2-QTOF/MS. The optimum conditions were as follows:mobile phase was CO2/isopropanol (95: 5, V/V), flow-rate was 2. 0 mL/min, automated backpressure regulator (ABPR) was 13. 79 MPa, column temperature was 30℃, with a post-column mauxiliary solvent of methanol/water (1:1, V/V) containing 2 mmol/L ammonium formate. The analyte was quantified by matrix external standard method. The results showed that linear range of this method was 0. 01-1. 00 mg/L, and the correlation coefficients were above 0 . 99 . The recoveries of cis-epoxiconazole enantiomers at three spiked levels (0. 005, 0. 025 and 0. 25 mg/kg) in fruit matrix were 67. 9%-92. 8% with relative standard deviations (RSDs, n=6) less than 10%, and the limit of quantification (LOQ) of enantiomers was 0. 005 mg/kg. The recoveries of cis-epoxiconazole enantiomers at three spiked levels (0. 01, 0. 05 and 0. 5 mg/kg) in black tea were 74 . 1% -84 . 0% with RSDs ( n=6 ) less than 8%, and the LOQ for these two enantiomers was 0. 01 mg/kg. This method is rapid, convenient and reliable, and could meet the requirement of residue analysis.

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.

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.