Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation / 华西口腔医学杂志

OBJECTIVE@#This study aimed to investigate the clinical phenotype and genetic characteristics of Chinese families with Van der Woude syndrome (VWS).@*METHODS@#Clinical manifestations between 14 families and within each family were recorded. Possible inheritance modes and pathogenic genes were analyzed. Phenotypic distribution and gene frequencies were calculated.@*RESULTS@#Of the pedigrees investigated, an autosomal dominant inheritance pattern was suggested. All patients had typical symptoms. The pathogenic gene was interferon regulatory factor 6 (IRF6). Phenotypic distribution frequencies were as follows: lip pits (91.9%), cleft lip and/or palate (73.0%), and hyperdontia (8.1%). There were significant differences in clinical phenotypes among individuals of different families and individuals of the same family.@*CONCLUSIONS@#VWS in a Chinese population was dominantly inherited with high penetrance and variable expressivity. The pathogenic gene was IRF6. VWS in a Chinese population was genotyped as VWS1.

Relationship between EGFR gene mutation and clinicopathological features in peripheral blood of patients with non-small cell lung cancer in Yunnan area / 临床与实验病理学杂志

Purpose To investigate the prevalence of EG-FR mutation in circulating cell-free DNA in non-small cell lung cancer (NSCLC) patients of Yunnan province and its relationship with clinical pathological characteristics,which can provide foundations for individualized targeted therapy of lung cancer in this area.Methods Amplification refractory mutation system (ARMS) was used to detect the EGFR exon 18,19,20 and 21 mutation in circulating cell-free DNA.The relationship between EGFR mutation and clinical characteristics were further analyzed.Results 93 patients (25.5％) harbored circulating EG-FR mutations among 364 patients.The mutation rates of EGFR 18 G719X,19del,20 S768I,T790M,20ins were 3.2％ (3/93),2.2％ (2/93)and3.2％ (3/93)respectively.EGFR21 L858R and L861Q mutation rates were 26.9％ (25/93) and 1.1％ (1/93),respectively.Three patients (3.2％,3/93)harbored G719X + S768I double mutation,four patients (4.3％,4/93) harbored 19Del + T790M mutations.19Del +L858R,L858R + S768I,and S768I + T790M mutation rates were 1.1％ (1/93),1.1％ (1/93) and 2.2％ (2/93) respectively.Conclusion The EGFR mutation rate of female and adenocarcinoma patients is higher in patients with stage Ⅲ B-ⅣNSCLC in Yunnan area.19Del is the major mutation type and double exon mutation is an obvious characteristic in NSCLC patients of Yunnan province.EGFR mutation detection in circulating cell-free DNA by ARMS method is feasible to screen patients receiving EGFR-TKIs treatment.

Effect of four different types of base metal alloy crown on the expression of prostaglandin E2 and cyclo-oxygenase-2 by human gingival fibroblast / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the effect of alloy leaching liquor of four different types of base metal alloy on the expression of prostaglandin E(2) (PGE(2)) and cyclo-oxygenase-2(COX-2) by human gingival fibroblast(HGF) in vitro.</p><p><b>METHODS</b>Ni-Cr, Co-Cr, pure Ti and Au ceramic alloys were incubated in Dulbecco's modified Eagle's medium (DMEM) to prepare alloy leaching liquor, and then added in HGF medium. DMEM was prepared as negative control. Aliquots were taken from exposed media after 1, 6, 12, 24 h. Assays for PGE(2) were carried out by enzyme-linked immunosorbent assay (ELISA).</p><p><b>RESULTS</b>In 6, 12, 24 h, the expression of PGE(2) in Ni-Cr and Co-Cr alloy groups (Ni-Cr: 45.568 ± 0.926, 60.538 ± 0.988, 73.754 ± 0.507; Co-Cr: 40.496 ± 0.693, 53.216 ± 0.327, 65.470 ± 1.086) were significantly higher than those in other experimental groups (Ti: 31.564 ± 0.719, 31.998 ± 0.856, 32.066 ± 0.513; Au alloy: 31.540 ± 0.821, 31.136 ± 0.518, 31.340 ± 0.443) and control group (31.122 ± 0.642, 31.230 ± 0.634, 30.980 ± 0.746) (P < 0.05). No significant difference were found in the expression of PGE(2) among pure Ti, Au alloy groups and the control group (P > 0.05). Immunofluorescence showed dark and uniform COX-2 stain in Ni-Cr and Co-Cr alloy groups, while in pure Ti group, Au alloy group, and negative control group shallow and uneven distribution of COX-2 stain were observed.</p><p><b>CONCLUSIONS</b>Our findings suggested that pure Ti and Au alloy did not cause elevated PGE(2) and COX-2 release from HGF. However, Ni-Cr and Co-Cr alloy caused increase in PGE(2) and COX-2 levels.</p>

Pregnancy weight gain and nutritional therapy on the outcome of gestational diabetes mellitus / 中华预防医学杂志

<p><b>OBJECTIVE</b>To study the relationship of bodyweight gain and the occurrence of gestational diabetes mellitus (GDM) during pregnancy, and analyze the effect of the nutritional therapy on the outcome of GDM.</p><p><b>METHODS</b>We collected 265 pregnant women who were diagnosed to be GDM and 571 pregnant women as the control group in the Xiamen Maternal and Child Health Hospital during 2007 - 2009. The general information of the subjects were collected. The bodyweight of the subjects were measured before the 20(th) week of pregnancy, 26 - 27(th) week (mid-gestation), 35 - 36(th) week (late-gestation) of pregnancy and prior to delivery. The bodyweight gain of different pregnancy weeks of the two groups and the effect of bodyweight on GMD occurrence before 28(th) week of pregnancy were analyzed by ages (< 25, 25-, 30-, ≥ 35). Meanwhile, we prescribed the nutrition therapy to the GDM pregnant woman and the effect of the blood sugar control on the outcome of the pregnancy were evaluated.</p><p><b>RESULTS</b>The bodyweight gain of 25-, 30-, older than 35 year-old subjects of the GDM group were (16.9 ± 6.3), (16.8 ± 6.1), (16.5 ± 6.0) kg, respectively, the bodyweight gain of the control group were (13.9 ± 3.0), (13.8 ± 2.7), (13.3 ± 2.7) kg (t = 6.259, 5.885, 3.533, respectively, all P values < 0.05). During the 20(th) to 27(th) week of the pregnancy, the bodyweight gain of the subjects younger than 25, 25-, 30-year-old in GDM group were (5.2 ± 1.0), (5.4 ± 1.7), (4.8 ± 1.3) kg, respectively, the bodyweight gain of the control group were (3.3 ± 1.3), (3.7 ± 1.6) and (3.5 ± 0.7) kg (t = 5.026, 9.659, 11.19, respectively, all P values < 0.05). During the period between 26(th) to 36(th) week, the bodyweight gain of subjects older than 35 year-old in GDP group was (3.6 ± 2.0) kg which was less than the control group ((4.0 ± 0.9) kg, t = -2.449, P < 0.05). 41.22% (54/131) and 44.94% (40/89) of 25-, 30-year-old subjects in GDM group showed bodyweight gain more than 13 kg, but 30.04% (76/253) and 26.07% (55/211) in the control group (OR values were 1.633 and 2.315, both P values < 0.05). The rate of the abnormal birth weight of the GDM group with blood sugar controlled and the control group were 6.6% (12/182) and 9.4% (54/571) which was lower than the GDP group with blood sugar control failure (20.5% (17/83)) (χ(2) values were 11.460, 9.119, respectively, both P values < 0.0125). The rate of premature delivery was 21.7%(18/83), higher than the control group (10.8%, 62/571) (χ(2) = 7.945, P < 0.0125). The rate of the cesarean in the control group was 25.4%(145/571) which was lower than the two GDM groups, including the group which the blood sugar was well controlled (46.7%, 85/182) and not well controlled (65.0%, 54/83) (χ(2) values were 29.540, 53.860, respectively, both P values < 0.0125).</p><p><b>CONCLUSION</b>The bodyweight gain in the mid-gestation could affect the occurrence of GDM. The bodyweight gain should be less than 13 kg before 28(th) week of the pregnancy whose age was 25-year-old. Nutritional therapy and blood sugar control in GDM pregnant women could improve the pregnancy outcome.</p>

Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China.</p><p><b>METHODS</b>Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing.</p><p><b>RESULTS</b>Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214 (T-->C) in exon 9, two nonsense mutations 981 (T-->A) in exon 7 and 1234 (C-->T) in exon 9. All affected members of the three families were heterozygous for their respective mutation.</p><p><b>CONCLUSION</b>Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.</p>