Widespread radiopacity of jaw bones in familial adenomatosis coli

Abnormalities of jaw bones and teeth were evaluated in 37 patients with familial adenomatosis coli (FAC) by means of orthopantomography. Osteomatous radiopaque lesions were evident in 75.7 percent of FAC patients (focal type: 62.2% and wide spread type: 13.5%), odontomes in 29.7% peripheral osteomas in 13.5%, unerupted teeth in 16.2% and supernumerary unerupted teeth in 16.2%. Five of the 37 FAC patients had an unusual widespread type of radiopacity with other abnormalities. Combined abnormalities were most frequent in patients with this type in comparison with patients with the focal type. Osteomas and peripheral osteomas were revealed in this type with statistical significance. Biopsy performed in one patient revealed an osteoma. These results suggest that the multiple abnormalities seen in oral X-ray examination may predict the occult existence of familial adenomatosis coli and these widespread radiopaque lesions probably represent the most extensive manifestation of FAC.     

茎突综合征与翼钩综合征

手术治疗茎突综合征２４例和翼钩综合征１１例。前者总有效率和治愈率分别为９１．６％和５８．３％，后者为１００％和６３．６％。对两综合征的病因、病理机理、诊断和治疗作了临床比较分析     

Rieger综合征-附1例家系病例报告

目的：分析1例Rieger综合征的典型家系病例，对临床医师认识和诊断这一与口腔发育异常密切相关的罕见遗传病提供线索和信息。方法：对1例Rieger综合征患进行家系调查，对家系成员进行临床检查，修复治疗和表型分析。结果：临床诊断1例Rieger综合征病例家系，显示常染色体显性的遗传方式，该综合征可导致严重的上颌骨发育不足和多数恒牙先天缺失。结论：Rieger综合征是导致先天性牙齿缺失的重要遗传性疾病之一，由于修复治疗的需要，可能对口腔医师在这一疾病的发现和诊断中起到重要作用。     

Detection and quantification of herpesviruses in Kostmann syndrome periodontitis using real‐time polymerase chain reaction: a case report

Background/aims: Kostmann syndrome, or severe congenital neutropenia, is an autosomal recessive disease of neutrophil production and is associated with severe periodontal pathology. The aim of this study was to determine whether human cytomegalovirus (HCMV) and Epstein‐Barr virus (EBV) contribute to the pathogenesis of Kostmann syndrome periodontitis. Methods: Supragingival plaque and saliva samples were taken from a 6‐year‐old boy and his 3‐year‐old sister suffering from Kostmann syndrome, and from two age‐ and gender‐matched healthy children serving as controls. The samples were taken before and 24 months after periodontal treatment. Real‐time polymerase chain reaction (TaqMan Real‐Time PCR) assay was used to quantify HCMV and EBV DNA. Results: EBV was detected in baseline samples from the Kostmann syndrome patients but not in samples from the healthy control subjects. HCMV was only detected in the saliva of the boy with Kostman syndrome at baseline. Herpesviruses numbers decreased dramatically in the post‐treatment samples. Conclusion: EBV and HCMV were detected in the two subjects with Kostmann syndrome periodontitis. The results of the study indicate that nonsurgical treatment of Kostmann syndrome periodontitis can reduce supragingival and salivary herpes viral loads.     

Papillon-Lefèvre syndrome: analysis of HLA antigens

OBJECTIVES: Papillon-Lefèvre syndrome (PLS) is a rare disease associated with prepubertal periodontitis. Our previous studies demonstrated that three unrelated patients with PLS showed the similar antigen-specific immune responses to Actinobacillus actinomycetemcomitans. The initiation of antigen-specific immune responses was involved with human leukocyte antigens (HLA) on antigen-presenting cells. The aim of this study was to examine HLA haplotypes in the three patients with PLS. SUBJECTS AND METHODS: The three PLS patients, their mothers and the father of one patient participated in this study. HLA class I and class II antigens were determined serologically and DNA typing for DRB1 and DQB1 was performed using the restriction fragment length polymorphism-polymerase chain reaction method. RESULTS: The distribution of serologic HLA haplotypes, in two of three patients, was found to be quite similar. The DNA typing revealed that DRB1*0406, DRB1*08032, DQB1*0302, DQB1*06011 genotypes were shared in the two patients. The probability of sharing these four DNA types in unrelated individuals was nearly 1:40,000 in the Japanese population. CONCLUSION: Our results suggest that HLA antigen may be included as a possible host factor in the pathogenesis of PLS and that a genetically controlled immune response may account for an increased susceptibility to periodontal infection.     

Open mandibular condylotomy (osteotomy) with precision scaphoid staple osteosynthesis and meniscopexy. A description of the operation

The technical minutiae of the operation of open mandibular condylotomy and precision scaphoid staple osteosynthesis with meniscoplasty or meniscopexy is described and illustrated. The operation is regarded as an evolution of closed condylotomy described by Ward in 1961 and is indicated for those cases of severe and persistent temporomandibular joint pain and crepitus unresponsive to skilled conservative treatment over a reasonable time. The success of the procedure is probably the sequel of a partial denervation of the joint capsule associated with arthrotomy, the interruption of venous hypertension, the relocation of the mandibular condyle and enlargement of the joint space. The operation is also applicable to cases of active (and inactive) mandibular condylar hyperplasia wherein a condylar neck ostectomy and staple is used to ablate an active growth centre or correct a lesser degree of mandibular asymmetry.     

A clinical report on distraction osteogenesis applied for Apert syndrome

This case report describes the orthodontic treatment done to an 11-year-old female patient having Apert syndrome, a genetic disorder manifested by craniofacial and limb anomalies. The orthodontic treatment was accompanied with distraction osteogenesis for forward advancement of the correction of midfacial hypoplasia. After the active treatment, a better facial profile and occlusion were achieved. The occlusion remained stable during the 2 years and 8 months follow-up.     

Effects of Chinese Medicine on Symptoms, Syndrome Evolution, and Lung Inflammation Absorption in COVID-19 Convalescent Patients during 84-Day Follow-Up after Hospital Discharge: A Prospective Cohort and Nested Case-Control Study

Objective:To observe the changes of symptoms,Chinese medicine(CM)syndrome,and lung inflammation absorption during convalescence in patients with coronavirus disease 2019(COVID-19)who had not totally recovered after hospital discharge and whether CM could promote the improvement process.Methods:This study was designed as a prospective cohort and nested case-control study.A total of 96 eligible patients with COVID-19 in convalescence were enrolled from Beijing Youan Hospital and Beijing Huimin Hospital and followed up from the hospital discharged day.Patients were divided into the CM(64 cases)and the control groups(32 cases)based on the treatment with or without CM and followed up at 14,28,56,and 84 days after discharge.In the CM group,patients received the 28-day CM treatment according to two types of CM syndrome.Improvements in clinical symptoms,CM syndrome,and absorption of lung inflammation were observed.Results:All the 96 patients completed the 84-day follow-up from January 21 to March 28,2020.By the 84th day of follow-up,respiratory symptoms were less than 5%.There was no significant difference in the improvement rates of symptoms,including fatigue,sputum,cough,dry throat,thirst,and upset,between the two groups(P>0.05).Totally 82 patients(85.42%)showed complete lung inflammation absorption at the 84-day follow-up.On day 14,the CM group had a significantly higher absorption rate than the control group(P<0.05)and the relative risk of absorption for CM vs.control group was 3.029(95%confidence interval:1.026-8.940).The proportions of CM syndrome types changed with time prolonging:the proportion of the pathogen residue syndrome gradually decreased,and the proportion of both qi and yin deficiency syndrome gradually increased.Conclusions:Patients with COVID-19 in convalescence had symptoms and lung inflammation after hospital discharge and recovered with time prolonging.CM could improve lung inflammation for early recovery.The types of CM syndrome can be transformed with time prolonging.     

Effect of Electro-acupuncture on Expression of IRS-1/PI3K/GLUT4 Pathway in Ovarian Granulosa Cells of Infertile Patients with Polycystic Ovary Syndrome-Insulin Resistance of Phlegm-Dampness Syndrome

Objective: To evaluate the effect of electro-acupuncture (EA) in infertile patients with phlegm dampness polycystic ovary syndrome-insulin resistance (PCOS-IR). Methods: Seventy-six PCOS-IR patients who underwnet in vitro fertilization and embryo transfer (IVF-ET) were equally assigned to two groups according to a random digital table: the EA group and the control group, with 38 cases in each group. Before undergoing IVF, the two groups were treated with EA or pseudo-acupuncture, respectively, for 3 menstrual cycles. The intervention was 25 min twice a week until the day of oocyte collection. The selected acupoints were Zhongwan (RN 12), Tianshu (ST 25), Daheng (SP 15), Daimai (GB 26), Qihai (CV 6), Guanyuan (CV 4), and bilateral points including Xuehai (SP 10), Fenglong (ST 40), Zusanli (ST 36), and Yinlingquan (SP 9). Evaluation of phlegm-dampness syndrome score and IR score were carried out before and after treatment. Additionally, the number of oocytes retrieved, transplantable embryo rate, high-quality embryo rate, clinical pregnancy rate and live birth rate were compared between the two groups. Real-time polymerase chain reaction analysis was used to monitor the mRNA expression of the insulin receptor substrate (IRS-1), phosphatidylinositiol 3-kinase (PI3K) and glucose transport factor 4 (GLUT4) in ovarian granulosa cells. Results: EA treatment reduced the phlegm-dampness syndrome score as well as the IR scores compared with the control group (P<0.05). No significant differences in the number of oocytes retrieved and clinical pregnancy rate between the two groups (P>0.05). Moreover, the transplantable embryo rate [49.0% (284/580) vs. 41.9% (273/652)], high-quality embryo rate [36.6% (104/284) vs. 27.8% (76/273)], and live birth rate [50% (19/38) vs. 26.3% (10/38)] in the EA group were significantly higher than in the control group (P<0.05). Gene expression analyses revealed significantly elevated IRS-1, PI3K and GLUT4 mRNA in ovarian granulosa cells of the EA group compared with the control group (P<0.05). Conclusions: EA may ameliorate the effects of phlegm-dampness syndrome and ovarian IR in PCOS-IR patients. Mechanistically, this effect might be through an upregulation of the IRS-1/PI3K/GLUT4 signaling pathway, which may result in improved oocyte quality and embryonic development potential. (Registration No. ChiCTR1800015453)     

掌跖角化牙周病综合征患者组织蛋白酶C基因的新突变

目的探讨掌跖角化牙周病综合征又称帕-勒综合征(PLS)患者组织蛋白酶 C 基因(CTSC)突变的特点,为该病发生的分子机制研究提供依据。方法对临床诊断为 PLS 的2例患者进行 CTSC 基因突变的分析。分别提取患者及其父母的基因组 DNA,应用聚合酶链反应和 DNA 直接测序进行基因突变的检测,进一步采用限制性内切酶酶切验证突变。结果 2例 PLS 患者均存在 CTSC基因的复合型杂合突变,患者Ⅰ的突变位点为 G139R 和S260P,患者Ⅱ的突变位点为 R250X 和C258W,健康对照组未发现基因突变,其中 S260P 和 C258W 突变是 CTSC 基因的新突变位点。结论CTSC 基因突变是导致2例 PLS 患者临床表型的致病原因,S260P 和 C258W 突变扩大了 CTSC 基因的突变谱,为我国 PLS 疾病的基因诊断提供了依据。