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 construct T cell receptor β (TCRβ) repertoires in children with SARS-CoV-2 infection, and analyze the differences in TCRβ repertoires between children with SARS-CoV-2 infection and healthy children.Methods:Whole blood samples from 5 children infected with SARS-CoV-2 Delta variant and from 5 healthy children were collected. After RNA quality inspection and repertoires construction, high-throughput sequencing was conducted to analyze the differences in clonal expansion and diversity indices of the TCR repertoires between children infected with SARS-CoV-2 and healthy children. The frequency of use of TCRβ VJ genes was statistically analyzed using unpaired T-tests.Results:We successfully constructed the TCRβ repertoires of children infected with SARS-CoV-2 using high-throughput sequencing technology. The diversity index of the TCR repertoire in children infected with SARS-CoV-2 (9.78±1.23) was significantly lower compared to that in healthy children (13.40±2.12) ( P<0.05), and the TCR clonal expansion index in children infected with SARS-CoV-2 (0.18±0.07) was significantly higher compared to that in healthy children (0.06±0.06) ( P<0.05). A preliminary comparison of the frequency of use of TCRβ repertoire VJ genes found that, in children infected with the SARS-CoV-2, the most common V and J genes were TRBV28 and TRBJ2-1, respectively. Conclusions:The construction of the TCRβ repertoires in children infected with SARS-CoV-2 using high-throughput sequencing technology has revealed characteristic features of the TCRβ repertoires in these children. This is of significant reference value for unveiling the characteristics of the T-cell repertoires in children infected with SARS-CoV-2 and for the rapid construction of TCRβ immunological repertoires in other viral infections.

Objective To investigate the effects of calorie-restricted diet(CRD)combined with intesti-nal micro-ecological preparation on the clinical outcomes of overweight/obese infertile patients undergoing fresh embryo transfer cycle.Methods A total of 197 cases of fresh embryo transfer assisted by in vitro fertili-zation(IVF)/intracytoplasmic sperm injection(ICSI)-embryo transfer(ET)in the hospital from January,2019 to December,2021 were selected as the research objects,and were divided into the overweight interven-tion group(n=46),the overweight control group(n=85)and the obesity intervention group(n=85)accord-ing to the body mass index(BMI)and whether they accepted CRD intervention or not.Results Compared to before the intervention,the overweight intervention group had significantly lower body mass[(63.59±4.90)kg vs.(67.47±5.10)kg],BMI[(25.74±1.26)kg/m2 vs.(26.58±0.75)kg/m2],body fat percentage[(36.51±3.76)％vs.(39.21±4.26)％],waist to hip ratio(0.88±0.04 vs.0.91±0.04),visceral fat grade(10.80±2.45 vs.12.63±2.60),and basal metabolic rate[(1 235.98±74.32)kcal vs.(1 254.63±77.23)kcal],P＜0.05;The body mass[(71.79±9.78)kg vs.(77.18±9.62)kg],BMI[(29.04±2.96)kg/m2 vs.(31.21±2.64)kg/m2],body fat percentage[(40.47±4.77)％vs.(43.97±3.81)％],waist to hip ratio(0.92±0.05 vs.0.96±0.06),and visceral fat grade(14.00±3.74 vs.16.59±3.15)of the obesity interven-tion group were significantly reduced(P＜0.05).Compared with the overweight control group,the number of transplanted embryos(1.85±0.36 vs.1.96±0.19)in the overweight intervention group was less(P＜0.05),while the number of live births(0.61±0.37 vs.0.56±0.36)was more,the live birth rate(43.48％vs.40.00％)was higher,but there was no statistically significant difference(P＞0.05).The clinical preg-nancy rate and live birth rate in the obesity intervention group were higher than those in the control group(72.41％vs.51.35％and 58.62％vs.35.14％),with no statistical significance,but with a strong statistical significance(P＞0.05).Conclusion CRD combined with intestinal micro-ecological preparation can signifi-cantly reduce the body mass and body fat of overweight/obese infertile patients,may help improve the success rate of assisted reproduction in obese infertile patients.

Human with bi-allelic WNT10A mutations and epithelial Wnt10a knockout mice present enlarged pulp chamber and apical displacement of the root furcation of multi-rooted teeth,known as taurodontism;thus,indicating the critical role of Wnt10a in tooth root morphogenesis.However,the endogenous mechanism by which epithelial Wnt10a regulates Hertwig's epithelial root sheath(HERS)cellular behaviors and contributes to root furcation patterning remains unclear.In this study,we found that HERS in the presumptive root furcating region failed to elongate at an appropriate horizontal level in K14-Cre;Wnt10afl/flmice from post-natal day 0.5(PN0.5)to PN4.5.EdU assays and immunofluorescent staining of cyclin D1 revealed significantly decreased proliferation activity of inner enamel epithelial(IEE)cells of HERS in K14-Cre;Wnt10afl/flmice at PN2.5 and PN3.5.Immunofluorescent staining of E-Cadherin and acetyl-α-Tubulin demonstrated that the IEE cells of HERS tended to divide perpendicularly to the horizontal plane,which impaired the horizontal extension of HERS in the presumptive root furcating region of K14-Cre;Wnt10afl/flmice.RNA-seq and immunofluorescence showed that the expressions of Jag1 and Notch2 were downregulated in IEE cells of HERS in K14-Cre;Wnt10afl/fl mice.Furthermore,after activation of Notch signaling in K14-Cre;Wnt10afl/flmolars by Notch2 adenovirus and kidney capsule grafts,the root furcation defect was partially rescued.Taken together,our study demonstrates that an epithelial Wnt10a-Notch signaling axis is crucial for modulating HERS cell proper proliferation and horizontal-oriented division during tooth root furcation morphogenesis.

Objective To investigate the effects of long-term exposure to three new types of light emitting diode (LED) sources on the behavior, learning, and memory of rats. Methods A total of 160 specific pathogen-free SD rats were divided into eight groups as followed, trichromatic fluorescent lamps color temperature control group, violet-chip full-spectrum white LED group, blue-chip white LED group, and blue-chip full-spectrum white LED group based on the light sources types, with color temperature of 4 000 K and 6 500 K groups in each group using the 4×2 factorial design. There were 20 rats in each group, with half of the rats were males and half females. Rats were exposed to artificial lighting, and the illumination was set at 750 lx. The rats in each group were exposed to different lighting environments for 12 hours per day for 24 weeks. The open-field and step-down tests were conducted in rats after 24 weeks exposure, followed by sacrifice of rats and measurement of organ coefficients. Differences in body weight, organ coefficients, and neurobehavioral indexes of rats in different groups were compared. Results The spleen coefficient of female rats decreased in blue-chip white LED of 6 500 K color temperature group, and the liver coefficient of male rats decreased in the violet-chip full-spectrum white LED of 4 000 K color temperature, blue-chip full-spectrum white LED of 4 000 K color temperature, and blue-chip full-spectrum white LED of 6 500 K color temperature groups, compared with the same-sex rats in trichromatic fluorescent lamps with same-color temperature control group (all P<0.05). The result of different types of light sources compared in the open-field test showed that the index of total distance and movement speed of female rats in the blue-chip full-spectrum white LED group were lower than those in the other three groups, and the time cost to the central area was longer than that in the blue-chip white LED group and the violet-chip full-spectrum white LED group (all P<0.05). The total distance and movement speed of male rats in the blue-chip full-spectrum white LED group were longer or higher than those in the violet-chip full-spectrum white LED group (all P<0.05). Based on the comparison of color temperature, the time and total distance of male rats in 6 500 K color temperature group were lower than that in the 4 000 K color temperature group (both P<0.05). In the step-down test, both male and female rats in the blue-chip full-spectrum white LED group made more errors compared with other three groups with the same gender (all P<0.05). Conclusion Based on the experimental conditions of this study, the blue-chip full-spectrum white light LED affects behavior, learning and memory of the rats, and trichromatic fluorescent lamp has the lowest effect on neurobehavior. The color temperature also affects behavior of the rats, and high color temperature has higher risk.

Objective:To explore the effect of oral nutritional supplements (ONS) during labor on delivery outcomes in low-risk pregnant women and the risk factors of cesarean section.Methods:A retrospective analysis was conducted in a total of 206 full-term pregnant women with singleton and cephalic presentation at the delivery center in our hospital from March 15th to May 15th, 2022. Standard diet education was given to all those women by midwives. Pregnant women who received the enteral nutrient solution prepared by the Department of Clinical Nutrition during labor were in the ONS group ( n = 110), while those who did not were in the control group ( n = 96). The baseline characteristics and delivery outcomes were compared between the two groups, and the risk factors of cesarean section were also analyzed. Results:There were no significant differences in terms of maternal age, height, baseline weight, baseline body mass index (BMI), weight gain during pregnancy, prenatal BMI, gestational week, intraspinal labor analgesia, oxytocin, gastrointestinal intolerance, neonatal length, and weight between the two groups ( P > 0.05). However, the total oral energy intake during labor in the ONS group was significantly higher than that in the control group ([1 349.99± 569.51] kJ vs [249.59 ± 455.19] kJ, P < 0.01). The rate of vaginal delivery in the ONS group was significantly higher than that in the control group (93.6% vs 81.3%, P = 0.01), and the duration of the first stage of labor ([487.06 ± 232.94] min vs [416.17 ± 191.13] min, P = 0.03) was also significantly longer in the ONS group. There were no significant differences between the two groups in terms of the duration of the second and third stages of labor, perineal laceration, cervical laceration, vaginal laceration, amount of bleeding, hospital stay, and Apgar score after birth ( P > 0.05). Multivariate logistic regression analysis showed that maternal age was a risk factor for changing to cesarean section in women with low-risk pregnancies ( OR 1.20, 95% CI 1.03 to 1.40, P = 0.02), while ONS during labor ( OR 0.31, 95% CI 0.11 to 0.85, P = 0.02) and intraspinal labor analgesia ( OR 0.10, 95% CI 0.04 to 0.26, P < 0.01) were protective factors. Conclusions:ONS during labor can significantly increase the vaginal delivery rate, without increasing the incidence of gastrointestinal intolerance in low-risk pregnant women. Maternal age is a risk factor for cesarean section while ONS during labor and intraspinal labor analgesia are protective factors in women with low-risk pregnancies.

Objective:To investigate the effects of calorie-restricted diet (CRD) combined with intestinal microecological preparation on the clinical outcomes in overweight/obese infertile patients undergoing frozen-thawed embryo transfer (FET) cycle.Methods:252 overweight/obese infertile patients who met the inclusion and exclusion criteria were included and divided into overweight intervention group, overweight control group, obese intervention group and obese control group, according to body mass index (BMI) and whether or not they received nutritional intervention. Clinical outcome indexes and changes in anthropometry and body composition before and after intervention were compared across all groups.Results:Body mass, BMI, body fat percentage, waist-to-hip ratio and visceral fat grade were significantly decreased after nutritional intervention in both overweight and obese intervention groups (both P<0.001). Among overweight patients, follicle count [(17.89±4.97) vs. (16.22±5.41), P=0.027], live births [(0.64±4.77) vs. (0.36±8.61), P=0.005] and the rate of live birth (47.19% vs. 30.19%, P=0.005) were significantly increased in the intervention group compared with the control group. Among obese patients, live births [(0.89±3.79) vs. (0.48±3.69), P=0.040] and the rate of live birth (64.29% vs. 37.93%, P=0.047) were significantly increased in the intervention group. Conclusion:In overweight and obese infertile patients undergoing FET cycle, the nutritional intervention of CRD combined with complex intestinal microecological preparation can help reduce weight and body fat, and may be beneficial to improving the success rate of assisted reproductive technology.

Rehabilitation of complete edentulism is naturally related to temporomandibular joint (TMJ) since the proper functioning of complete denture depends on the normal movement of TMJ. This review briefly introduced the design of occlusion in complete denture, characteristic of different occlusal patterns, and key points in registration of maxillomandibular relationship and occlusal adjustment. This review emphasized the significance of complete denture restoration to the health of TMJ.

Abstract Genetic diagnosis and etiological analysis were performed on a patient with hypoxic-ischemic encephalopathy at birth. MRI technology was used to examine the brain of the child. G-band karyotype analysis technology was used to analyze the karyotype of the child and her parents. Chromosomal microarray analysis(CMA) was used to analyze the entire genome of the child and her parents for chromosomal copy number variation(CNV) and to identify the small supernumerary marker chromosomes. The results of MRI supported the diagnosis of hypoxic-ischemic encephalopathy of the child and found the appearance of Dandy-Walker malformation. Karyotype analysis showed that the mother's karyotype was 46, XX, t(10; 13)(p11. 1; q11)[11]/46, XX[19]. The karyotype of the father was normal. The karyotype of the child was 47, XX, + mar. The CMA results showed that there was no CNVs above 200 kb in the parents. The CMA results of the child showed that the chromosome 10 was repeated in p15. 3 p11. 1, and the fragment size was 38. 39 Mb. In conclusion, this study found a rare small supernumerary marker chromosome(sSMC) on chromosome 10. Its genetic pattern and pathogenicity were analyzed. It is considered that sSMC(10) is the cause of the patient.

Objective:Objective To explore the special role of nutrition specialists in the one-day-care clinic of gestational diabetes mellitus (GDM), and provide a basis for strengthening the standardized construction of one-day-care clinic.Methods:It was a retrospective observation study that the pregnant women who participated in the one-day-care clinic of GDM in our hospital without nutrition specialists in November and December 2017 were divided into control group (177 cases), and who participated in the one-day-care clinic of GDM in our hospital with nutrition specialists in January and February 2018 were divided into observation group (307 cases). The differences of pregnancy outcomes between the two groups were compared after the propensity score matching.Results:176 pairs of patients were successfully matched with a 1:1 propensity score. The incidence of macrosomia in pregnant women with GDM in the observation group (2.8%) was significantly lower than that in the control group (8.5%) ( P=0.036). There were no significant differences in the weight gain during pregnancy, the gestational week of delivery and the incidences of insulin use, hypertension during pregnancy, preeclampsia, cesarean section, premature infants, premature rupture of membranes, umbilical cord around the neck, and fetal distress between the two groups ( P>0.05). Conclusion:Nutrition specialists are indispensable in the multidisciplinary cooperation of one-day-care clinic of GDM, and they play a key role in considerably lowering the prevalence of macrosomia in GDM pregnant women.