Novel gene mutation in maturity-onset diabetes of the young:A case report

BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common monogenic type of diabetes.Recently,14 gene mutations have been found to be associated with MODY.In addition,the KLF11 gene mutation is the pathogenic gene of MODY7.To date,the clinical and functional characteristics of the novel KLF11mutation c.G31A have not yet been reported.CASE SUMMARY We report of a 30-year-old male patient with a one-year history of nonketosisprone diabetes and a 3-generation family history of diabetes.The patient was found to carry a KLF11 gene mutation.Therefore,the clinical data of family members were collected and investigated.A total of four members of the family were found to have heterozygous mutations in the KLF11 gene c.G31A,which resulted in a change in the corresponding amino acid p.D11N.Three patients had diabetes mellitus,and one patient had impaired glucose tolerance.CONCLUSION The heterozygous mutation of the KLF11 gene c.G31A(p.D11N)is a new mutation site of MODY7.Subsequently,the main treatment included dietary interventions and oral drugs.

Brain injury in combination with tacrolimus promotes the regeneration of injured peripheral nerves

Both brain injury and tacrolimus have been reported to promote the regeneration of injured peripheral nerves. In this study, before transection of rat sciatic nerve, moderate brain contusion was（or was not） induced. After sciatic nerve injury, tacrolimus, an immunosuppressant, was（or was not） intraperitoneally administered. At 4, 8 and 12 weeks after surgery, Masson＇s trichrome, hematoxylin-eosin, and toluidine blue staining results revealed that brain injury or tacrolimus alone or their combination alleviated gastrocnemius muscle atrophy and sciatic nerve fiber impairment on the experimental side, simultaneously improved sciatic nerve function, and increased gastrocnemius muscle wet weight on the experimental side. At 8 and 12 weeks after surgery, brain injury induction and/or tacrolimus treatment increased action potential amplitude in the sciatic nerve trunk. Horseradish peroxidase retrograde tracing revealed that the number of horseradish peroxidase-positive neurons in the anterior horn of the spinal cord was greatly increased. Brain injury in combination with tacrolimus exhibited better effects on repair of injured peripheral nerves than brain injury or tacrolimus alone. This result suggests that brain injury in combination with tacrolimus promotes repair of peripheral nerve injury.

Relationship among soluble CD105, hypersensitive C-reactive protein and coronary plaque morphology： an intravascular ultrasound study

Background Rupture of unstable plaque with subsequent thrombus formation is the common pathophysiological substrate of acute coronary syndrome （ACS）. It is of potential significance to explore the blood indexes predicting plaque characteristics. We investigated the relationship among soluble CD105, hypersensitive C-reactive protein （hs-CRP）, and coronary plaque morphology.Methods A clinical study from April 2004 to December 2006 was conducted in 130 patients who were divided into 3 groups： 56 patients （43.1%） in stable angina （SA） group, 52 patients （40.0%） in unstable angina （UA） group and 22 patients （16.9%） in acute myocardial infarction group. The concentrations of soluble CD105 and hs-CRP were measured in all of the patients by cardioangiography （CAG）. Plasma samples of arterial blood were collected prior to the procedure. The levels of soluble CD105 and hs-CRP were measured by enzyme-linked immunosorbent assay （ELISA）.Results Unstable and ruptured plaque was found more frequently in patients with acute myocardial infarction and UA. External elastic membrane cross-sectional area （EEM CSA）, plaque area, lipid pool area and plaque burden were significantly larger in the ruptured and unstable plaque group. Positive remodeling, thinner fabric-cap, smaller minimal lumen cross-sectional area （MLA）, dissection and thrombus were significantly more frequent in the ruptured and unstable plaque group. Remodeling index （RI） was positively correlated with the levels of soluble CD105 in the UA group （r=0.628, P〈0.01） and the acute myocardial infarction group （r=0.639, P〈0.01）. The levels of soluble CD105 and hs-CRP were higher in the ruptured plaque group. Soluble CD105 〉4.3 ng/ml was used to predict ruptured plaque with a receiver operating characteristic （ROC） curve area of 0.77 （95% confidence interval （CI）, 66.8%-87.2%）, a sensitivity of 72.8%, a specificity of 78.0% and an accuracy of 70.2% （P〈0.01）, similarly for hs-CRP 〉 5.0 mg/ml with a ROC curve area of 0.70 （95% CI, 59.2%-80.2%）, a sensitivity of 70.2%, a specificity of 76.2% and an accuracy of 67.2% （P〈0.01）.Conclusions The plaque characteristics correlate with the clinical presentation. The elevation of soluble CD105 and hs-CRP is related to the plaque instability and rupture.

Advances in targeted drugs for allergic diseases

To the Editor:Since the first IgE monoclonal antibody was approved by the Food and Drug Administration in the USA in 2003,at least 14 kinds of targeted drugs are in the clinical application or pre-clinical trials.The two monoclonal antibodies targeting IgE are omalizumab and ligelizumab.Four drugs targeting interleukin 4(IL-4)or IL-4R are pascolizumab,pitrakinra,altrakincept,and dupilumab.Three monoclonal antibodies targeting IL-5/IL-5R are mepolizumab,reslizumab,and benralizumab.Two monoclonal antibodies targeting IL-13 are lebrikizumab and tralokinumab.The monoclonal antibody targeting thymic stromal lymphopoietin(TSLP)is tezepelumab.Th2 cytokine inhibitor is mesylate.These targeted drugs have achieved good results,but most of them are still in the pre-clinical stage.This article reviews the history,marketing situation,indications,contraindications,efficacy,and safety of these targeted drugs.