OBJECTIVE: To investigate the clinical characteristics and genetic etiology of a Chinese pedigree affected with Hereditary dentin dysplasia type II (DD-II) due to variant of dentin sialophosphoprotein (DSPP) gene. METHODS: A child diagnosed with DD- II at the Third Clinical Division of Peking University Hospital of Stomatology in December 2021 and her family members were selected as study subjects. Clinical data were retrospectively analyzed. Saliva samples were collected from the proband, her parents and sister for genomic DNA extraction. Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and TOPO-TA cloning sequencing. The candidate variant was also subjected to bioinformatics analysis using Mutation Taster v2021. Secondary and tertiary structures of the wild-type and variant DSPP proteins were predicted with psipred v4.0 and PyMOL v2.3 software, respectively. The pathogenicity of the variant was classified based on the guidelines from American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Peking University Hospital of Stomatology (Ethics No.: PKUSSIRB-202162021). RESULTS: The proband and her mother and sister had all exhibited typical clinical manifestations of hereditary DD-II. The primary dentition of the proband displayed yellowish brown discoloration, wear, and obliteration in the chamber and root canal, while the permanent teeth of the proband's sister and mother appeared nearly normal in both color and appearance, though with obliteration in the chamber and root canal. Her father showed normal dentition. WES identified a heterozygous c.1915_1918delAAGT, p.(Lys639Glnfs*674) frameshift variant in the DSPP gene. Sanger sequencing and TOPO-TA cloning sequencing confirmed the presence of this variant in the proband, the proband's sister, and the mother, while the proband's father was negative for the variant, indicating an autosomal dominant inheritance pattern. The variant was predicted to be pathogenic by Mutation Taster v2021. Prediction of the secondary structure of the DSPP protein showed that the variant has changed it from coil to helix. The tertiary structure prediction of the DSPP protein showed change of the spatial structure of the variant DSPP, with the loops in the variant region replaced by helices at multiple sites. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP1+PP4). CONCLUSION Phenotypic analysis and genetic testing of this family has clarified the clinical diagnosis of hereditary DD- II. The c.1915_1918delAAGT variant probably underlay the pathogenesis of DD-II in this family. Above results have expanded the phenotypic spectrum of the disease and may contribute to further clinical and genetic research on this disease.
Humans ; Pedigree ; Female ; Extracellular Matrix Proteins/chemistry* ; Male ; Sialoglycoproteins/chemistry* ; Dentin Dysplasia/genetics* ; Asian People/genetics* ; Phosphoproteins/chemistry* ; Child ; Mutation ; China ; Exome Sequencing ; Adult ; East Asian People

Objective To explore the effect of self-efficiency intervention for patients with peripherally inserted central catheter ( PICC ) at the intermission of the chemotherapy. Methods A total of 150 chemotherapy patients with PICC were selected from May 2013 to May 2014 and divided into experimental group ( n =75 ) and control group ( n =75 ) according to the date of admission. The patients of control group underwent conventional nursing, while the patients of experimental group received self-efficiency nursing including directed experience, vicarious experience, verbal persuasion, and support system. The general self-efficacy scale ( GSES ) was evaluated in two groups at admission and six months after discharge. The PICC complication rates were compared between two groups at admission and six months after discharge. Results At admission, the scores of self-efficiency were no significantly different between the experimental group and the control group (P>0. 05). At six months after discharge, the self-efficiency score of experimental group was higher than that of the control group (P <0. 01). Within six months after discharge, the complications of catheter-related infection, PICC ectopy in the experimental group were significantly lower than those of the control group (P<0. 05). Conclusions The self-efficiency intervention can enhance the level of self-efficiency among patients with PICC during the period of chemotherapy intermission. It also can increase patient′s confidence, promote patient′s ability of self-management, and decrease the PICC complications.

Objective To investigate the causes and risk factors of postpartum hemorrhage (PPH) in hepatitis B virus (HBV) infected parturient.Methods Retrospective analysis was performed on the 1021 HBV infected parturient from Shanghai Public Health Clinical Center from July 2005 to June 2011.The comparisons were done by chi-square test.Results Among 1021 cases of HBV infected parturient,868 (85.01％) were asymptomatic and the PPH rate was 2.76％ (24/868) ;the remaining 153 cases (14.99％) were chronic active hepatitis B and the PPH rate was 16.99％(26/153).The difference between two groups was statistically significant (x2 =56.541,P＜0.01).The total incidence rate of PPH was 4.89％ (50/1021) and 17 cases (34.00％) were postpartum hemorrhage＞1000mL.The causes of PPH included uterine inertia (30/50,60.00％),abnormal placenta (11/50,22.00％),dysfunction of coagulation (5/50,10.00％) and lesion of birth canal (4/50,8.00％).The risk factors of PPH included delivery mode (x2 =6.528,P=0.038),abortion times (x2 =16.269,P=0.000),delivery times (x2 =6.990,P=0.008),ALT levels (x2=56.541,P=0.000) and HBV DNA (x2 =64.706,P=0.000).Conclusions The main causes of PPH in HBV infected parturient include uterine inertia,abnormal placenta,lesion of birth canal and dysfunction of blood coagulation.PPH is correlated with abortion times,delivery times,delivery mode,liver function and HBV DNA.The incidence of PPH in parturient with chronic active hepatitis B is higher than asymptomatic parturient.

Objective To describe the clinical features and imaging characteristics of nodular splenic sarcoidosis. Methods We describe a patient with splenic sarcoidosis and review the related medical literature, the etiology, symptomatology, pathology, diagnosis, differential diagnosis, management and prognosis of splenic sarcoidosis. Results The etiology of this rare disease remains unknown. Symptoms are scanty and usually mild; computed tomography usually reveals splenomegaly or the presence of multiple nodules, confusing with metastatic tumor in spleen. On histopathologic examination, sarcoid produces noncaseating granulomas. Sarcoid is typically treated only when symptomatic. Oral corticosteroids is the most important method of treatment in patients with progressive loss of organ functions. Prognosis has closed relationship with early clinical manifestation. Conclusion Splenic sarcoidosis is rare and often misdiagnosis as other diseases.