Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China / 中华口腔医学杂志

Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

The association of MAFB gene polymorphism with nonsyndromic cleft lip with or without cleft palate in Ningxia Hui and Han population / 实用口腔医学杂志

Objective:To study the association between non-syndrome cleft lip and palate (NSCL/P)and MAFB (rs6072081, rs6065259,rs17820943,rs11696257)gene polymorphism in NingXia Hui and Han population.Methods:512 cases of NSCL/P,258 case of Hui nationality and 254 of Han,174 cases of complete 3 core family members(patients and their parents),142 cases of single parents families(patients and their single parents),were collected in patient group.505 cases of healthy newborns were collected in control group.The MAFB gene SNPs were determined with TaqMan SNPs genotyping methods and the data were analyzed by case-con-trol analysis,transmission disequilibrium test(TDT)and family based association test(FBAT).Results:Case-control analysis found that,there was a statistical significance of the genotypes and allele frequency between patients and the controls in MAFB of the 4 locus (P 0.05).Conclusion:The 4 locus single nucle-otide polymorphism was associated with NSCL/P in Ningxia population.

Anxiety and depression of patients with amyotrophic lateral sclerosis / 现代临床护理

Objective To study the anxiety and depression in patients with amyotrophic lateral sclerosis(ALS).Method One hundred and seventy-four ALS patients were evaluated by self-rating anxiety scale(SAS)and self-rating depression scale(SDS) to study the anxiety and depression in them.Results In 174 ALS patients,21 had anxiety(12.07%)and 65 the depression(37.36%). The scores of SAS and SDS in the ALS patients were significantly higher than the national norm(P<0.05).The depression incidence in the female patients was significantly higher than the male(P<0.05).Conclusions Anxiety and depression are more severe than those in ALS patients than those in normal people.Psychological support is important for these patients,especially for those female patients.

Study on life quality and influence factors in cleft lip and palate parents / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the life quality and their influence factors in cleft lip and palate parents and to provide evidences for improving the life quality of the parents.</p><p><b>METHODS</b>One hundred and forty-three parents whose children accepted the primary surgery of cleft lip and palate were selected as the case group, and 109 normal adults as the control group. Both groups were investigated by 3 questionnaires that included questionnaire of general status, generic quality of life inventory-74 (GQOLI-74), social support rating scale (SSRS). The results of two groups were analyzed and the influence factors on life quality were studied by stepwise multiple regression analysis.</p><p><b>RESULTS</b>1)The scores of the life quality, mental function, social function, material life in the case group were significantly low compared with the control group(P<0.05). 2)The social support total scores, subjective support and utilization of social support were lower than the control group(P<0.05). 3)Social support, objective support, subjective support positively correlated with life quality scores and every dimension score in the case group. 4)The relevant factors affecting life quality were social support and income.</p><p><b>CONCLUSION</b>The life quality and social support of cleft lip and palate patients is poor, we should give more support and help to improve their life quality.</p>

Effects of an early psychological intervention on parents of children with cleft lip/palate / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To provide basis for effects of an early psychological intervention on parents of children with cleft lip/palate, and investigate the effects of an early psychological intervention to them.</p><p><b>METHODS</b>One self-administered questionnaire (SCL-90) was applied in 102 parents of children with cleft lip/palate, compared to 126 parents of healthy individuals on the day of admission. They were given the psychological intervention during hospitalization and 3 months after discharge. The questionnaire (SCL-90) was again applied to them on the day of discharge and 3 months after discharge.</p><p><b>RESULTS</b>Using the questionnaire (SCL-90), the answer scores of somatization, obsessive-compulsive, depression and anxiety etc. were significantly higher than those of the control group (P < 0.05). There were no statistical differences during 3 subgroups in the case group (P > 0.05). There were no statistical differences on the day of admission and on the day of discharge (P > 0.05), but there were statistical difference on the day of admission and 3 months after discharge (P < 0.05).</p><p><b>CONCLUSION</b>In this study, the psychosomatic states of parents of children with cleft lip/palate is poor. It's important and greatly significant that we conduct early psychological intervention to parents of children with cleft lip/palate and to the children's psychosomatic health.</p>

Association between single nucleotide polymorphism in Wnt3 and nonsyndromic cleft lip with or without cleft palate in Hui and Han population of Ningxia Autonomous Region / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the association between rs142167, rs7216231 single nucleotide polymorphism (SNP) in Wnt3 and nonsyndromic cleft lip and palate (NSCL/P) in Hui and Han population of Ningxia Autonomous Region.</p><p><b>METHODS</b>The study consisted of 371 NSCL/P patients from Ningxia Hui and Han population (Han population 166, Hui population 205), their parents (196 fathers, 224 mothers, 150 trios) and 258 normal controls (Han population 190, Hui population 68). Polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to identify rs142167, rs7216231 genotypes of the samples. The data was analyzed by case-control analysis, transmission disequilibrium test (TDT) and family based associated test (FBAT).</p><p><b>RESULTS</b>Case-control study showed that no differences in cleft lip, cleft palate, cleft lip and palate, and the total case group compared with the control group at rs142167 and rs7216231 (P > 0.05) in Hui and Han population and in stratified comparison. TDT test showed that rs142167 and rs7216231's allele had not over-transmitted (P > 0.05) in NSCL/P. FBAT test showed that G-G specific haplotypes showed statistically significant (P < 0.05).</p><p><b>CONCLUSION</b>Wnt3 gene polymorphism is not relevant with NSCL/ P in Ningxia Hui and Han population.</p>

Association between small ubiquitin-related modifier-1 gene polymorphism and non-syndromic oral clefting / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the association between small ubiquitin-related modifier-1 (SUMO-1) gene rs6709162, rs7599810, rs7580433 polymorphism and non-syndromic oral clefting (NSOC).</p><p><b>METHODS</b>Our study consisted of 208 Ningxia NSOC patients, their parents (189 fathers and 176 mothers), 172 nuclear families (patients and their parents), and 284 normal controls. DNA was extracted and polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to identify rs6709162, rs7599810, rs7580433 genotypes of the samples. The data was analyzed by case-control analysis, family based associated test (FBAT), and transmission disequilibrium test (TDT).</p><p><b>RESULTS</b>Case-control study found that TT genotype's frequency was significantly different in cleft lip and cleft palate group compared with the control group at rs7599810 of SUMO-1 (P=0.01, P=0.01). TDT test showed that rs7599810's T allele had over-transmitted (P=0.00) in cleft lip and palate group. FBAT analysis revealed that distribution of rs7599810's TT genotype and T allele was significantly different (P=0.00, P=0.00). TDT test showed that rs6709162's C allele in cleft palate and cleft lip and palate patients had over-transmitted (P=0.00, P=0.01). rs7580433's G allele in cleft lip group had over-transmitted (P=0.05).</p><p><b>CONCLUSION</b>SUMO-1 gene polymorphism is associated with NSOC.</p>

Study on the periodontal health status of 2 628 adults in Ningxia Hui autonomous region / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To study the periodontal health status of Hui and Han adults in Ningxia Hui autonomous region, thus to provide scientific basis for the establishment of oral health care policies in this region.</p><p><b>METHODS</b>2 628 adults in Ningxia Hui autonomous region were investigated in this study according to the criterion issued by World Health Organization on the basic methods of oral health investigation and China oral health third epidemiological survey protocol. The inspection item included gingival bleeding (bleeding on probing, BOP), dental calculus, probing depth (PD) and attachment loss (AL). SPSS 15.0 statistical software was applied to analyze the results.</p><p><b>RESULTS</b>1) The positive rate of BOP sites, detection rate of calculus and PD were peaked in 36-45 and 46-59 years old, but in the > or = 60 age group rather lower. The prevalence of periodontitis and the percentage of AL > or = 4 mm sites were increased with the adults' age. 2) In addition to the percentage of AL > or = 4 mm sites, the differences of the other indicators between the genders were not statistically significant. 3) The positive rate of BOP sites, detection rate of calculus, PD, the prevalence of periodontitis and the percentage of AL > or = 4 mm sites were higher for the mountain areas than the plain areas. 4) Hui population's positive rate of BOP sites, detection rate of calculus, PD, the prevalence of periodontitis and the percentage of AL > or = 4 mm sites were significantly lower than the Han population in Ningxia.</p><p><b>CONCLUSION</b>The periodontal health status of adults in Ningxia Hui autonomous region is associated with age, gender, nationality and region.</p>

Significant association between SNPs in IRF6 and non-syndromic cleft lip with or without cleft palate in West China / 实用口腔医学杂志

Objective:To study the association between the rs2013162 and rs2235375 polymorphisms in IRF6 and risk of NSCL/P in west Chinese population. Methods: The study group consisted of 332 NSCL/P patients, their parents (289 mothers, 243 fathers and 206 complete families), and 174 controls. PCR-RFLP method was used to identify genotypes and both case-parent and case-control designs were carried out on samples from west China. Results: There were significant differences in the frequency distributions of both genotypes and alleles when cases were compared with control infants at the rs2235375(P<0.01, P<0.01 respectively). We found strong evidence of over-transmission of the G allele at rs2235375 in cleft case-parent trios(P<0.01). Five specific haplotypes showed significant over-and under-transmission. Conclusion: These results suggest IRF6 variants play a role in NSCL/P in west Chinese populations.

Observation on 120 Cases of Lubar Intervertebral Disc Protrusion(LIDP)Treated with Needle-knife Therapy plus Balance-acupuncture Therapy / 国际中医中药杂志

Objective To observe the clinical effects of treating LIDP with needle-knife therapy plus balance.acupuncture therapy.Methods 120 LIDT patients were randomly recruited into a treatment group and a control group.with 60 patients in each group.The treatment group was treated with needle-knife therapy plus balance-acupuncture therapy andthe control group was treated with needle-knife therapy exclusively.The therapeutic effects were evaluated after thetreatment.Resuits There was significant difference between the two groups in terms of recovery rateandthe course of treatment. Conclusion Needle-knife therapy plus balance-acupuncture therapy was obvious better than exclusive needle-knife therapy in treating LIDT in terms of recovery rate and the course of treatment.

The Analysis of Mouse Blood Serum and Colture of Primary Hepatocytes Induced by Phenobarbital Sodiu / 医学研究杂志

Objective To investigate the biological characteritics of adult animal hepatocytes induced by phenobarbital sodium(PBS) in vivo,and to study the potential value of biological artificial liver of effective hepatocytes.Methods 12 adult male mice,are yandomly divided in to preinducing group and controll group.The preinducing group are intraperitoneally injected PBS per day,45mg/kg for 7 times in total;the controll ware injected NS.after that,we detected the blood serum TP,BUN,CHOL,HDLC.And the same amount of isolative hepatocytes was developed after being developed 48h;MTT was used to investigate the proliferation of hepatocytes after being developed 24h;chromosome was investigated to observe the cell division;and the survival deadline and morphology was also investigated.Results The TP had remarkable difference between the two groups(t=2.678,P

Individual operation design for unilateral cleft lip repair / 实用口腔医学杂志

Objective:To evaluate the effectiveness of individual operative design for unilateral cleft lip repair.Methods:Individual operation design was applied for the repair of unilateral cleft lip in 40 cases.The operations were conducted according the designs and the secondary nasal deformities were corrected at the same time.One week after operation,dermal sutures were removed,the effects were evaluated by 3 professional doctors.7 labial morphometric lines were measured.The ratio of the line length on healthy side to the correspondence on the cleft side(RLL)were calculated for objective evaluation.Results:First intention was found in all cases,the labial bow of both sides was symmetried after operation.In dynamic state and static state,the effects of the operations were satisfactory.RLL of 0.91-1.10 of the 7 lines was observed in 67.5%-95.0% of the patients.Conclusion:The individual operation design is feasible for unilateral cleft lip repair.

Clinical observation on the efficacy of surgical treatment of mandibular condylar fracture by a direct approach / 实用口腔医学杂志

Objective:To explore the therapeutic efficacy of a new access to internal rigid fixation for mandibular condylar fracture. Methods: 7 patients with 9 unilateral mandibular condylar fractures were treated with preauricular beeline incisions. The two trunks of facial nerve were dissected and separated along the surface of the superficial temporal veins. Mandibular ramus periosteum was dissected. The fracture segments were reduced and fixed under sufficient exposure. Results: This operation access provided a sufficient exposure and was convenient for reduction and fixation. All the patients recovered effectively.Conclusion: This surgical approach is one of the feasible methods for reduction and fixation of mandibular condylar fracture.