ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy.</p><p><b>METHODS</b>Genomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination.</p><p><b>RESULTS</b>A heterozygous mutation (R124L) was found in exon 4 of the TGFBI gene among all patients from the family. The same mutation was not found among unaffected family members. The inheritance pattern of the family was identified as autosomal dominant, and the Reis-Bucklers corneal dystrophy in the family was diagnosed as the geographic type.</p><p><b>CONCLUSION</b>The R124L mutation of the TGFBI gene probably underlies the pathogenesis of Reis-Bucklers corneal dystrophy in this Chinese family. Molecular genetic approach is useful for the proper diagnosis of this type of corneal dystrophy.</p>
Subject(s)
Female , Humans , Male , Corneal Dystrophies, Hereditary , Genetics , Mutation , Sequence Analysis, DNA , Transforming Growth Factor beta1 , GeneticsABSTRACT
Objective To observe the effects of penehyclidine hydrochloride(PHC)on lipopo-lysaccharide-induced neonatal cardiomyocyte damage.Methods After the primary cardiomyocytes culture of neonatal rat on postnatal day 1,the myocytes were randomly divided into 4 groups:the control group,the lipopolysaccharide(LPS)group,the low dosage PHC pretreatment group and high dosage PHC pretreatment group.Activities of myocardial enzymes and cardiac troponin and cell survival rate were measured.Expres-sion of NF-Κb(p65)and IκB-α(NF-κB inhibitor)phosphorylation were assessed using Western blot.Re-sults Compared with the control group,activities of myocardial enzymes and cardiac troponin in the LPS group were elevated but the survival rate were down-regulated.All these effects were reversed in the PHC pretreatment group.Results of Western blot showed that phosphorylation of IκB-αand p65 expression were up-regulated in the LPS group.In the PHC pretreatment group,phosphorylation of IκB-αand p65 expres-sion were down-regulated.Conclusion Penehyclidine hydrochloride can inhibit lipopolysaccharide-in-duced neonatal cardiomyocyte damage and the down-regulation of NF-κB activity might be involved.
ABSTRACT
Background Open-globe injury of zone Ⅱ is a severe eyeball wound in the sclera area near 5mm from the corneal limbus.To accurately evaluate the local tissue structure after the wounding is very important for lessening the complications of eye injury.Ultrasound biomicroscope (UBM) has been proven useful in examining eyeball wall and vitreous at the wound in order to offer the useful information about whether secondary operation is needed for the injured eyes and when is the optimal timing for surgery.Objective The present study is to explore the clinical application of UBM in open-globe injury of zone Ⅱ. Methods This is an observational study of clinical cases.UBM examination was performed on 38 eyes of 38 cases received emergency repair surgery of open-scleral injury.The restore status of sclera,ciliary body and vitreous of injuried zone (zone Ⅱ) were evaluated under the UBM in 3-5 days after the operation.The comprehensive results of UBM,B-scan and ophthalmoscope examinations were analyzed to determine the further treatment.The oral informed consent was obtained from each subject before this trial.Results Vitreous surgery were performed on 15 cases,and all wounds were found by UBM and were proven in the surgery.The other 23 cases were followed up in out-patient department and no obvious complications were found.Conclusion UBM is a valuable and atraumatic examination for open-globe injury of zone Ⅱ.It offers important and appraisal information about ocular injury.