3M syndrome patient with a novel mutation:A case rep

BACKGROUND A rare autosomal recessive genetic disorder,3M syndrome,is characterized by severe intrauterine and postnatal growth retardation.Children with 3M syndrome typically exhibit short stature,facial deformities,long tubular bones,and high vertebral bodies but generally lack mental abnormalities or other organ damage.Pathogenic genes associated with 3M syndrome include CUL7,OBSL1 and CCDC8.The clinical and molecular characteristics of patient with 3M syn-drome are unique and serve as important diagnostic indicators.CASE SUMMARY In this case,the patient displayed square shoulders,scoliosis,long slender tubular bones,and normal neurological development.Notably,the patient did not exhibit the typical dysmorphic facial features,relative macrocephaly,or growth retardation commonly observed in individuals with 3M syndrome.Whole exon sequencing revealed a novel heterozygous c.56681+1G>C(Splice-3)variant and a previously reported nonsense heterozygous c.3341G>A(p.Trp1114Ter)variant of OBSL1.Therefore,it is important to note that the clinical features of 3M syndrome may not always be observable,and genetic confirmation is often required.Additionally,the identification of the c.5683+1G>C variant in OBSL1 is notewor-thy because it has not been previously reported in public databases.CONCLUSION Our study identified a new variant(c.5683+1G>C)of OBSL1 that contributes to expanding the molecular profile of 3M syndrome.

常规热挤压制备高强韧细晶Mg−1Mn−0.5Al−0.5Ca−0.5Zn合金

采用常规热挤压方法制备Mg−1Mn−0.5Al−0.5Ca−0.5Zn合金,挤压温度为673 K,挤压比为25:1,并进行473 K时效处理。采用扫描电镜、电子背散射衍射和透射电镜表征合金的显微组织,测试试样的温室拉伸性能。结果表明,经473 K、1 h峰值时效后,试样出现细小等轴晶,平均晶粒尺寸为1.7μm,Al−Ca颗粒面积分数明显增多。热挤压后仍能观察到áañ位错和ác+añ位错。峰值时效态样品表现出高强度和良好塑性,其抗拉强度为320 MPa,屈服强度为314 MPa,伸长率为19%。

Protection effect of Emodin pretreatment on intestinal I-RI damage of intestinal mucosa in ratsa

Objective:To linvestigate the protective effect and mechanism of emodin pretreatment on intestinal mucosa of rats with intestinal ischemia-reperfusion injury.Methods:A total of 50SD rats were randomly divided into control group,model group,emodin groups of low,medium and high dose,with 10 in each group.Ischemia-reperfusion injury(I-RI)mode was established by using noninvasive clamp on superior mesentericartery(SMA).Control group and model group were pretreated with 0.5%sodium carboxymethyl cellulose solution lavage 2 h before operation,emodin groups of low,medium and high dose were given emodin lavage with 20,40,60 mg/kg pretreatment,femoral venous blood before the lavage pretreatment(TO)and 1 h ischemia(Tl),and inferior vena venous blood after 1 h of reperfusion(T2)were extracted from each group of rats for detection of serun level of intestinal fatty acid binding protein(I-FABP),tumor necrosis factor(TNF-α),endotoxin,interleukin 6(IL-6),and die content of diamine oxidase(DAO);Mter model establishment,the rats were sacrificed,intestine homogenate was prepared by using blind intestinal tissue to detect intestinal tissue myeloperoxidase(MPO],malondialdehyde(MDA)and superoxide dismutase(SOD)levels.And upper small intestine tissue was retrieved,followed by fixation and conventional HE staining to observe intestinal tissue morphology under light microscopy.Results:In emodin groups of low,medium and high dose at T1 and T2,I-FABP,TNF-α,endotoxin.IL,-6 and DAO level were significandy lower than that of model group(P<0.05);in emodin group of low,medium and high dose,MPO and MDA content in intestinal tissue homogenate was significantly lower than that in model group(P<0.05),SOD level was significantly higher than that of model group(P<0.05).Intestinal damage of emodin low,medium and high dose groups were significandy lighter than model group.Conclusions:Emodin pretreatment has certain protective effect on intestinal mucosa in ischemia reperfusion injury.

Effect of intestinal function-recovering decoction on treatment of multiple organ dysfunction syndrome in rats

Objective:To analyze the effect of intestinal function-recovering decoction on multiple organ dysfunction syndrome in rats,and to investigate a novel solution to multiple organ dysfunction syndrome.Methods:Multiple organ dysfunction syndrome was induced in 60 Sprague-Dawley rats by intestinal ischemia-reperfusion combined with cecal ligation and puncture.Then these rats were intragastrically administered physiological saline(group Ⅰ,n=20),ampicillin(group Ⅱ,n=20) or intestinal function-recovering decoction(group Ⅲ,n=20).After treatment, serum malondialdehyde and superoxide dismutase levels were compared among three groups. Simultaneously,bacterial culture of various organ tissues was performed and bacterial and endotoxin translocation were observed.Results:Compared with group 1,serum malondialdehyde, alanine aminotransferase and aspartate aminotransferase levels were significantly decreased(all P<0.05) and serum superoxide dismutase level was significantly increased(P<0.05) in the group Ⅲ. However,there were no significant differences in these indices between groups Ⅱ and Ⅲ(P>0.05). The rate of bacterial translocation in the groups Ⅱ and Ⅲ was significantly lower than in the group Ⅰ(P<0.05),and no significant difference was observed between groups Ⅱ and Ⅲ(P>0.05). Conclusions:Intestinal function-recovering decoction can significantly reduce endotoxin and bacterial translocation and stabilize enteral oxidative-antioxidative balance.