Effectiveness of iliac cancellous bone grafting in alveolar cleft repair and analysis of factors affecting it / 华西口腔医学杂志

OBJECTIVES@#To review the effectiveness of secondary alveolar bone grafting using iliac cancellous bone in patients with unilateral complete alveolar cleft and to investigate the factors influencing it.@*METHODS@#A retrospective study of 160 patients with unilateral complete alveolar clefts who underwent iliac cancellous bone graft repair at the Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, was conducted. Eighty patients in the young age group (6-12 years) and 80 in the old age group (≥13 years) were included. Bone bridge formation was determined using Mimics software, and the volume was measured to calculate the iliac implantation rate, residual bone filling rate, and resorption rate. The factors that affected bone grafting in both subgroups were investigated.@*RESULTS@#Using bone bridge formation as the clinical success criterion, the success rate for the entire population was 71.25%, with a significant difference of 78.75% and 63.75% for the young and old age groups, respectively (P=0.036). The gap volume in the latter was significantly larger than that in the former (P<0.001). The factors that influenced bone grafting in the young group were the palatal bone wall (P=0.006) and history of cleft palate surgery (P=0.012), but only the palatal bone wall affected the outcome in the old age group (P=0.036).@*CONCLUSIONS@#The results of alveolar bone grafting for the old age group were worse than those for the young age group. The palatal bone wall was an important factor that affected alveolar bone grafting, and alveolar bone grafting in the young patients was influenced by the history of cleft palate surgery.

Two-stage alveolar bone grafting for nasal floor reconstruction in adult cleft patients / 华西口腔医学杂志

Alveolar cleft is one of the key links of cleft lip and palate reconstruction due to its close relationship with tooth and jaw coordination and nasolabial deformity. The alveolar bone graft repairs the hole in the gum ridge and stabilizes the bone arch, providing better support for the base of the nose and new bone for the roots of the developing teeth to grow into. Unfortunately, bone graft failure in the traditional way, even among minor clefts, bony hypoplasia, or absence that affects the nasal base and piriform rim, is common. Two-stage alveolar bone grafting, which has advantages in addressing the underlying skeleton and deficiency, could be an optional surgical procedure for nasal floor reconstruction in adult patients with a broad alveolar cleft.

Lipid-lowering Activity of Quansanqi Tablets / 中国实验方剂学杂志

ObjectiveTo evaluate the lipid-lowering activity of Quansanqi tablets（QSQ）， an innovative new drug of Panax notoginseng. MethodMice and golden hamsters were used to establish a hyperlipidemia model by injecting egg yolk milk and feeding high-fat diets. The levels of total cholesterol （TC），triglyceride （TG），low-density lipoprotein cholesterol （LDL-C）， and high-density lipoprotein cholesterol （HDL-C） were detected， and liver function indicators ［alanine aminotransferase （ALT）， aspartate amino-transferase （AST）， and alkaline phosphatase （ALP）］ of golden hamsters were detected. Hematoxylin-eosin （HE） staining was used to observe the degree of liver injury. In the experiments， a normal group， a model group， an atorvastatin calcium group， and low-， medium-， and high-dose QSQ groups （0.32， 0.64， 1.28 g·kg-1 for mice， and 0.16， 0.32， 0.64 g·kg-1 for golden hamsters） were set up. ResultCompared with the normal group， the acute hyperlipidemia model mice showed increased TC， TG， and LDL-C levels （P<0.01）， and the hyperlipidemia model mice showed increased TC and LDL-C levels （P<0.01）. Additionally， the hyperlipidemia model golden hamsters showed increased serum TC， TG， LDL-C， ALT， AST， and ALP levels （P<0.05， P<0.01）. HE staining indicated the presence of fat accumulation in the liver， accompanied by inflammatory reactions. Compared with the model group， QSQ of various doses could reduce TC， TG， and LDL-C levels in acute hyperlipidemia model mice （P<0.05， P<0.01）， and the high-dose QSQ could reduce TC and LDL-C levels （P<0.01） and increase HDL-C level （P<0.05） in hyperlipidemia model mice， as well as reduce TC， TG， and LDL-C levels in hyperlipidemia model golden hamsters （P<0.05， P<0.01）， especially in the first two weeks. In addition， atorvastatin calcium could further increase ALT， AST， and ALP levels （P<0.05， P<0.01） and aggravate liver function damage， while low-dose QSQ could reduce ALT， AST， and ALP （P<0.05）， and medium- and high-dose QSQ did not cause further liver function damage. ConclusionQSQ have a significant lipid-lowering effect on different hyperlipidemia model animals and can improve liver function and liver injury.

ChatGPT for shaping the future of dentistry: the potential of multi-modal large language model / 国际口腔科学杂志·英文版

The ChatGPT, a lite and conversational variant of Generative Pretrained Transformer 4 (GPT-4) developed by OpenAI, is one of the milestone Large Language Models (LLMs) with billions of parameters. LLMs have stirred up much interest among researchers and practitioners in their impressive skills in natural language processing tasks, which profoundly impact various fields. This paper mainly discusses the future applications of LLMs in dentistry. We introduce two primary LLM deployment methods in dentistry, including automated dental diagnosis and cross-modal dental diagnosis, and examine their potential applications. Especially, equipped with a cross-modal encoder, a single LLM can manage multi-source data and conduct advanced natural language reasoning to perform complex clinical operations. We also present cases to demonstrate the potential of a fully automatic Multi-Modal LLM AI system for dentistry clinical application. While LLMs offer significant potential benefits, the challenges, such as data privacy, data quality, and model bias, need further study. Overall, LLMs have the potential to revolutionize dental diagnosis and treatment, which indicates a promising avenue for clinical application and research in dentistry.

Prevalence of hypertension based on three separate visits among primaryand middle school students in Suzhou City / 预防医学

Objective@#To investigate the prevalence of hypertension among primary and middle school students living in Suzhou City, Jiangsu Province, so as to provide insights into comprehensive hypertension control among children and adolescents.@*Methods@# Primary and middle school students at ages of 7 to 17 years were recruited for a questionnaire survey in Suzhou City using the stratified cluster random sampling method from September to December, 2020, and the height and body weight were measured. Blood pressure was measured at three separate clinic visits according to the national criteria Reference of Screening for Elevated Blood Pressure among Children and Adolescents Aged 7-18 Years ( WS/T 610-2018 ), and the detection of elevated blood pressure was estimated at three separate visits. In addition, factors affecting elevated blood pressure were identified. @*Results@#A total of 3 713 students were enrolled, including 1 924 boys ( 51.82% ) and 1 789 girls ( 48.18% ). The detection of elevated blood pressure was 13.63%, 5.36%, and 3.37% at three separate visits, respectively, and the prevalence of hypertension ( elevated blood pressure at all three visits ) was 3.37%. The detection rates of elevated blood pressure were all higher at three visits ( 16.90%, 8.40%, and 5.26% ) among students at ages of 12 to 17 years than among students at ages of 7 to 11 years ( 9.65%, 1.67%, and 1.07%, P<0.05 ). The detection of elevated blood pressure was significantly higher in boys ( 15.23% ) than in girls (11.91%) at the first visit ( P<0.05 ), while no significant differences were seen at the second or third visit ( P>0.05 ). In addition, higher detection rates of elevated blood pressure were seen in obese ( 27.62%, 11.51%, and 7.06% ) and overweight students ( 17.45%, 6.95%, and 4.85% ) than in students with normal weight ( 9.44%, 3.54%, and 2.15% ) at all three visits, and greater detection rates of elevated blood pressure were found in obese students than in overweight students at the first and second visits ( P<0.017 ).@*Conclusions @#The prevalence of hypertension was 3.37% based on three separate visits among primary and middle school students in Suzhou City. Measurement of blood pressure at three separate visits within different days is effective to reduce the false positive rate of hypertension and decrease misdiagnosis among children and adolescents.

Comparison of immediate effects between two surgical methods on repair of unilateral incomplete cleft lip / 中华医学美学美容杂志

Objective:To evaluate the short time outcome about repairing of lateral incomplete cleft lip with two different treatments: new rotation advancement technique and Tennison technique.Methods:Twenty-seven cases of lateral incomplete cleft lip were repaired by the two different treatments, and 12 indexes were employed to evaluate the short time outcome of post-operation.Results:All the patients who were treated with the new rotation advancement technique and Tennison technique in this study obtained satisfactory lip and nasal symmetry immediately. There was no significant difference between the two techniques in the treatment of the patients with unilateral incomplete cleft lip.Conclusions:Though the new rotation advancement technique does not show the obvious improvements about repairing of lateral incomplete cleft lip, invisible incision and keeping the nostril sill will definitely benefit the patients because of reducing the risk of more scars.

Three-dimensional reconstruction of systematic histological sections: application to observations on palatal shelf elevation / 国际口腔科学杂志·英文版

Normal mammalian secondary palate development undergoes a series of processes, including palatal shelf (PS) growth, elevation, adhesion and fusion, and palatal bone formation. It has been estimated that more than 90% of isolated cleft palate is caused by defects associated with the elevation process. However, because of the rapidly completed elevation process, the entire process of elevation will never be easy to clarify. In this article, we present a novel method for three-dimensional (3D) reconstruction of thick tissue blocks from two-dimensional (2D) histological sections. We established multiplanar sections of the palate and tongue in coronal and sagittal directions, and further performed 3D reconstruction to observe the morphological interaction and connection between the two components prior to and during elevation. The method completes an imaging system for simultaneous morphological analysis of thick tissue samples using both synthetic and real data. The new method will provide a comprehensive picture of reorientation morphology and gene expression pattern during the palatal elevation process.

Analysis of factors responsible for residual rectal neuroendocrine tumor at the margins following endoscopic resection in middle-aged and elderly patients / 中华老年医学杂志

Objective:To examine the factors related to residual rectal neuroendocrine tumor at the margins after endoscopic resection.Methods:A retrospective case control study was conducted.From January 1, 2013 to March 31, 2018, data on 81 middle-aged and elderly patients with rectal neuroendocrine tumor aged ≥45 years who underwent endoscopic resection at the Endoscopic Center of the First Hospital of Jilin University were retrospectively collected.Based on whether residual tumor existed on histopathological examination, they were divided into the residual group(n=22)and the non-residual group(n=59). The causes of residual rectal neuroendocrine tumor at the margins after endoscopic resection were analyzed.Results:The diameters of lesions in 81 patients with rectal neuroendocrine tumors ranged between 0.3-1.5(0.73±0.33)cm.Postoperative histopathological examination revealed that all lesions were G1 neuroendocrine tumors, with residual tumor seen at the margins in 22 cases(27.2%). The mean tumor diameter was(0.78±0.36)cm for the residual group and(0.68±0.28)cm for the non-residual group, with no statistical significance between the two groups( t=1.320, P>0.05). Of the 22 patients in the residual group, 2 cases showed muscularis propria involvement and 14 cases showed tumor infiltration into the submucosa but without lymph node infiltration or metastasis, and in the rest of the cases lesions were confined to the mucosa.None of the 59 patients in the non-residual group had involvement of the muscular layer, but 23 cases showed tumor infiltration into the submucosa(39.0%)and the rest had lesions confined to the mucosa.The difference between the two groups was statistically significant( χ2=11.010, P<0.01). The results of binary Logistic regression analysis suggested that tumor infiltration into or beyond the submucosa( β=1.285, P<0.05)and the absence of preoperative ultrasonographic evaluation( β=-1.147, P<0.05)were independent risk factors for residual rectal neuroendocrine tumor at the margins after endoscopic resection. Conclusions:Tumor infiltration into the submucosa or beyond and lack of preoperative ultrasound evaluation are independent risk factors for residual rectal neuroendocrine tumor at the margins after endoscopic resection.

Effect of the prophylactic use of antibiotics on wound infection after cleft lip surgery / 华西口腔医学杂志

OBJECTIVES@#To study the effect of preoperative prophylactic use of antibiotics on wound infection in patients with cleft lip.@*METHODS@#Aretrospective study was conducted on the clinical data of 1 361 patients who underwent one-stage cleft lip repair in the Department of Cleft Lip and Palate in West China Hospital of Stomatology, Sichuan University, from January 2015 to November 2018. The patients were divided into two groups according to whether prophylactic antibiotics were used or not. There were 594 patients in the prevention group, including 373 unilateral incomplete cleft lip (UICL) patients, 157 unilateral complete cleft lip (UCCL) patients, 25 bilateral incomplete cleft lip (BICL) patients, 39 bilateral complete cleft lip (BCCL) patients. There were 767 patients in the non-prophylactic group, including 482 UICL patients, 211 UCCL patients, 31 BICL patients, 43 BCCL patients. The relationship between preoperative and postoperative leukocyte count, preoperative and postoperative body temperature, and postoperative wound infection were compared between the two groups.@*RESULTS@#No significant difference was observed in the leukocyte count and body temperature between both groups (@*CONCLUSIONS@#The preoperative prophylactic use of antibiotics has no significant effect on the incidence of postoperative infection in patients undergoing cleft lip repair.

Force balance reconstruction of orbicularis oris in correction of unilateral cleft lip deformity / 华西口腔医学杂志

OBJECTIVES@#Short-term outcome evaluation for the correction of unilateral cleft lip deformity with a new technique.@*METHODS@#Forty-four patients with unilateral cleft lip deformity were included in the study and in which the orbicularis oris muscle was reconstructed to achieve the optimal force balance of reconstructed orbicularis oris. The photometric two-dimensional indexes, including the philtrum oblique angle and asymmetry ratios (lip height, lip width, vertical distance from the white roll to the vermilion bottom at the Cupid's bow point, and vertical distance from the Cupid 's bow points to facial midline), were employed to measure and evaluate the outcome.@*RESULTS@#Several indexes showed statistically significant difference, and they included the philtrum oblique angle, asymmetry ratio of the lip height, and asymmetry ratio of the vertical distance from the white roll to the vermilion bottom at Cupid ' s bow points (@*CONCLUSIONS@#The results suggested that the new muscle reconstruction technique can significantly improve the short-term outcome of the correction of unilateral cleft lip deformity.

Short-term nasal symmetry repaired by force-balanced muscular reconstruction technique / 华西口腔医学杂志

OBJECTIVES@#This study aimed to compare the postoperative outcome of the new and classical muscular reconstruction technique combined with nasal internal-fixation method for secondary deformity post unilateral cleft lip repair. A rationale is provided for the further surgical improvement of secondary deformities.@*METHODS@#Sixty patients aged 4-18 years with secondary unilateral cleft lip-nose deformity were involved in this research. The deformities of 28 patients were repaired using the muscular force balance technique through nasal internal fixation method, and 32 were repaired using classical muscular reconstruction technique. Two-dimensional analysis was used to evaluate the nose-lip morphology of pre- and post-operative patients through standardized photographs seven days after surgery.@*RESULTS@#Compared with preoperative nasal morphology in the muscular force balance technique group, the 7-days postoperative results of this group showed the significantly improved short-term outcomes in the correction of columellar deflection, alar rim angle, nasal shape, and the symmetry of alar base width, nostril width, nostril height, alar rim angle (@*CONCLUSIONS@#The new muscular reconstruction technique with nasal internal-fixation method has a significant effect on nasal repair.

Changes of postoperative velopharyngeal function in children with cleft palate under 5 years old / 华西口腔医学杂志

OBJECTIVE@#To demonstrate the regularity of velopharyngeal function recovery after primary cleft palatoplasty and its correlation with different surgical procedures, ages, cleft types, and follow-up times.@*METHODS@#Patients with cleft palate under 5 years old who had more than two follow-up records were included in this study, and consecutive evaluations of postoperative velopharyngeal function were performed. Univariate and multivariate logistic regression analysis were used to reveal the regularity of postoperative velopharyngeal function and the possible influencing factors.@*RESULTS@#A total of 165 patients were included. Inconsistent functions of the velopharyngeal closure were observed in 31 patients, of which velopharyngeal insufficiency (VPI) in the first follow-up converted to velopharyngeal competence (VPC) in the second follow-up, accounting for 18.79% of the total, and 134 patients had consistent velopharyngeal function. The patients in the group who had consistent velopharyngeal function were younger than those in the group who were inconsistent, and the differences between the two groups were statistically significant. The younger the operation age, the patient's velopharyngeal function was more likely to stabilize at the first follow-up. At the time of the first follow-up in 15, 28, and 40 months, the probability that the patients had stable postoperative velopharyngeal function was 80%, 90%, and 95%, respectively.@*CONCLUSIONS@#The recovery of velopharyn-geal function after surgery is a dynamic process. The velopharyngeal status of patients can be converted from VPI to VPC. Meanwhile, VPC cannot switch to VPI. The follow-up time is the most important factor affecting the consistency of the evaluation of velopharyngeal function. Choosing appro-priate follow-up time is the key to obtain the stable evaluation of velopharyngeal function.

Association between platelet-derived growth factor-C single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in Western Chinese population / 华西口腔医学杂志

OBJECTIVE@#To explore the association between two single nucleotide polymorphisms (SNPs), namely, rs4691383 and rs7667857, in the platelet-derived growth factor-C (PDGF-C) gene, the genotypes, environmental exposure factors, and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Western Chinese population.@*METHODS@#A total of 268 case-parent trios were selected, and two SNPs (rs4691383 andrs7667857) were genotyped by using polymerase chain reaction and restriction enzyme fragment length polymorphic method and direct sequencing method. Hardy-Weinberg equilibrium, linkage disequilibrium test, transmission disequilibrium test, and haplotype analysis were conducted to analyze the data. Meanwhile, the questionnaires on the epidemiology of cleft lip and palate filled by the included samples were collected, and the interaction between the genotypes of the two SNPs and environmental exposure factors was assessed by conditional logistic regression.@*RESULTS@#The A allele at rs4691383 and the G allele at rs7667857 of PDGF-C gene were over-transmitted for NSCL/P (P0.05).@*CONCLUSIONS@#The rs4691383 and rs7667857 at PDGF-C gene are closely related to the occurrence of NSCL/P in Western Chinese population. However, the interaction between environmental exposure factors and PDGF-C genotypes is not obvious in the occurrence of NSCL/P.

Velopharyngeal closure pattern and speech characteristics of patients congenital velopharyngeal insufficiency / 华西口腔医学杂志

OBJECTIVE@#To analyze velopharyngeal closure patterns and speech characteristics of patients with congenital velopharyngeal insufficiency.@*METHODS@#Patients visiting the Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University between 2009 and 2017 were reviewed. Outcomes of subjective speech evaluation, including resonance, consonant articulation, and correction rate, were analyzed. Furthermore, the mobility of soft palate and pharyngeal walls under nasopharyngeal fiberscope were analyzed retrospectively.@*RESULTS@#A total of 47 cases were retrieved and subjected to nasopharyngeal fiberscopic examination. Among them, 29 (61.7%) demonstrated a circular closure pattern, 16 (34.0%) showed a coronal pattern, and 2 (4.3%) had a sagittal pattern. Furthermore, 25 (53.2%) presented medium soft-palate mobility, 22 (46.8%) had weak lateral pharyngeal wall mobility, and 41 (87.2%) had no posterior pharyngeal wall mobility. Among all of the patients, 23 (48.9%) presented medium hypernasality, accounting for the highest proportion. Consonant misarticulation occurred in 89.4% of the cases. The articulation manners with the highest correction rate were in the following order: nasal, lateral, fricatives, stops, and affricates. The articulation places with the highest correction rate were in the following order: bilabial, alveolar, velar, and linguadental.@*CONCLUSIONS@#Circular closure was the most prevalent velopharyngeal closure pattern among patients with congenital velopharyngeal insufficiency, and consonant omission was the most common articulation abnormality.

Effect of CO₂ fractional laser on the early control of scar post-secondary repair in patients with a cleft lip / 华西口腔医学杂志

OBJECTIVE@#To observe and compare the clinical efficacy of CO₂ fractional laser in the early control of scar post-secondary repair in patients with a cleft lip.@*METHODS@#In the treatment group, 43 patients with secondary repair of cleft lip were treated via CO₂ fractional laser. The control group covered 70 patients post-cheiloplasty. The effect in the two groups after six months was compared. The duration from the beginning of the laser treatment to surgery and patient gender were analyzed to determine if they affected the efficacy of the laser treatment for scars.@*RESULTS@#1) The curative effect in the treatment group was better than that in the control group (P<0.000 1), the total effectiveness rate was 90.7% in the treatment group. 2) No significant statistical difference in efficacy was observed between men and women (P=0.487). Moreover, no significant statistical difference in efficacy (P=0.055) was observed among patients one year after surgery, within the duration of <3 months, and within the duration of ≥3 months.@*CONCLUSIONS@#CO₂ fractional laser had a definite effect on the treatment of scar post-secondary repair in patients with a cleft lip. No significant correlation was observed between treatment effect and patient gender, and no difference was noted among patients one year after surgery. In the beginning of the laser treatment, no difference was observed between the durations of <3 months and ≥3 months after the reconstruction, Therefore, early intervention of scars a year after secondary repair of a cleft lip can achieve good results.

Computational technology for nasal cartilage-related clinical research and application / 国际口腔科学杂志·英文版

Surgeons need to understand the effects of the nasal cartilage on facial morphology, the function of both soft tissues and hard tissues and nasal function when performing nasal surgery. In nasal cartilage-related surgery, the main goals for clinical research should include clarification of surgical goals, rationalization of surgical methods, precision and personalization of surgical design and preparation and improved convenience of doctor-patient communication. Computational technology has become an effective way to achieve these goals. Advances in three-dimensional (3D) imaging technology will promote nasal cartilage-related applications, including research on computational modelling technology, computational simulation technology, virtual surgery planning and 3D printing technology. These technologies are destined to revolutionize nasal surgery further. In this review, we summarize the advantages, latest findings and application progress of various computational technologies used in clinical nasal cartilage-related work and research. The application prospects of each technique are also discussed.

Influence of the nasolabial subunit on visual sensitivity: a preliminary study / 中华医学美学美容杂志

Objective:To explore the sensitivity of the normal population to nasolabial subunits.Methods:From 2016 to 2017, we took frontal photos of 25 (20 to 40 years old) people with basically normal nasolabial subunits in West China Hospital of Stomatology. The lip subunits were adjusted at 1.1, 1.2, and 1.3 times magnification or translation to obtain photos of different degrees of malformation of the nasal and lip subunits. A total of 189 young healthy people [96 males, 93 females; age (20.00±1.32) years old] without correction surgery and no maxillofacial deformities were selected to judge the facial aesthetic visual effect of their vision on the nasolabial subunit.Results:The peak sensitivity of nasolabial subunits is the nostril symmetry and columella deviation followed by lip symmetry.Conclusions:Young healthy people have high aesthetic visual effects on nostril symmetry and nasal column translation facial translation, average facial visual effects on lip symmetry and the lowest facial aesthetic visual effects on lip peak symmetry.

Research progress on geriatric ethics / 中华老年医学杂志

With the development of medical technology and the rapid growth of the elderly population, complex ethical issues have become increasingly prominent.This article analyzes the current domestic and international situation of geriatric medical ethics, including disease response, palliative treatment, pre-life advice, ethical issues in the application of artificial intelligence, ethical education, distribution of medical and health resources and health policies.

Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios / 北京大学学报(医学版)

OBJECTIVE@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting 1.4 per 1 000 live births, and multiple genetic and environmental risk factors influencing its risk. All the known genetic risk factors accounted for a small proportion of the heritability. Several authors have suggested parent-of-origin effects (PoO) may play an important role in the etiology of this complex and heterogeneous malformation. To clarify the genetic association between PTCH1, PTCH2, SHH and SMO in hedgehog (HH) pathway and NSCL/P, as well as testing for potential PoO effects in Chinese case-parent trios.@*METHODS@#We tested for transmission disequilibrium tests (TDT) and PoO effects using 83 common single nucleotide polymorphic (SNP) markers of HH pathway genes from 806 NSCL/P case-parent trios. These trios were drawn from an international consortium established for a genome-wide association studies (GWAS) of non-syndromic oral clefts of multiple ethnicities. DNA samples were collected from each trio. Single marker and haplotype based analysis were performed both in TDT tests and PoO effects. SNPs were excluded if they (ⅰ) had a call rate of < 95%, (ⅱ) had a minor allele frequency (MAF) of < 0.05, (ⅲ) had Mendelian errors over all trios of >5%, (ⅳ) had a genotype distribution in the parents that deviated from the Hardy-Weinberg equilibrium (HWE) (<i>P</i> < 0.000 1). The process was done using Plink (version 1.07, <a href="http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml" target="_blank">http://pngu.mgh.harvard.edu/~purcell/plink/data.shtml</a>). TDT test was performed in Plink v1.07. A log-linear model was used to explore PoO effects using Haplin v6.2.1 as implemented in R package v3.4.2. Significance level was assessed using the Bonferroni correction.@*RESULTS@#A total of 18 SNPs were dropped due to low MAF, thus leaving 65 SNPs available for the analysis. Thus the Bonferroni threshold was 7.7×10-4 (0.05/65). Nominal significant association with NSCL/P was found at a SNP (rs4448343 in PTCH1, P=0.023) and six haplotypes (rs10512249-rs4448343, rs1461208-rs7786445, rs10512249-rs4448343, rs16909865-rs10512249-rs4448343, rs1461208-rs7786445-rs12698335, and rs288756-rs288758-rs1151790, P < 0.05). A total of six haplotypes (rs288765-rs1233563, rs12537550-rs11765352, rs872723-rs288765-rs1233563, rs288765-rs1233563-rs288756, rs6459952-rs12537550-rs11765352, and rs12537550-rs11765352-rs6971211) showed PoO effect (P < 0.05). None of the results remained significant after the Bonferroni correction (P>7.7×10-4).@*CONCLUSION@#Neither significant association between SNPs within HH pathway and the risk of NSCL/P nor PoO effects was seen in this study.

Dental-craniofacial manifestation and treatment of rare diseases in China / 华西口腔医学杂志

Rare diseases are genetic, chronic, and incurable disorders with relatively low prevalence. Thus, diagnosis and management strategies for such diseases are currently limited. This situation is exacerbated by insufficient medical sources for these diseases. The National Health and Health Committee of China recently first provided a clear definition of 121 rare diseases in the Chinese population. In this study, we summarize several dental-craniofacial manifestations associated with some rare diseases to provide a reference for dentists and oral maxillofacial surgeons aiming at fast-tracking diagnosis for the management of these rare diseases.