Background It has been reported that murine Müller cells conditional medium can promote the survival of retinal ganglion cells (RGCs) and the regeneration of axons,and the survival rate of RGCs improve in the optic nerve axotomy eyes with cataractogenic lens injury in vitro.However,the interaction of Müller cells with pricking of lens in protecting RGCs is unclear.Objective The aim of this study was to investigate the role of Müller cells on survival of RGCs in the optic nerve axotomy with cataractogenic lens injury.Methods Forty-eight clean adult Wistar rats were randomized into sham operation group,optic nerve axotomy group and lens injury combined with optic nerve axotomy group.The optic nerve was exposed only in the rats of the sham operation group,optic nerve was completely transected at 3 mm behind the eyeball in the rats of the optic nerve axotomy group,and lens puncture and optic nerve axotomy were performed in the eyes of lens injury combined with optic nerve axotomy group.The rats were sacrificed at day 7 and day 14 after operation to prepare the retinal specimens.The RGCs were examined and counted by hematoxylin-eosin staining.Müller cells labeled by glial fibrillary acidic protein (GFAP) were counted using immunohistochemisty.Results The number of RGCs was (52.98 ± 1.90) /field and (51.81 ±3.09) /field on the 7th and 14th day in the sham operation group,without significant difference between them (t =0.910,P =0.378).The number of RGCs was significantly lower on the 14th day ([22.67±1.94] /field) than that of the 7th day ([36.61±1.69] /field) in the optic nerve axotomy group (t=15.312,P=0.000).Also,the number of RGCs was (50.76±2.77) /field and (35.69±1.80) /field on the 7th and 14th day in the lens injury combined with optic nerve axotomy group,showing a significant difference between the two timepoints (t =12.920,P =0.000).In addition,the RGCs number in the lens injury combined with optic nerve axotomy group was significantly higher than that in the optic nerve axotomy group both on 7 days and 14 days after operation (7 days:t =102.840,P =0.000; 14 days:t =164.020,P =0.000),and the number of RGCs was lower in the lens injury combined with optic nerve axotomy group than that of the sham operation group on day 14 (t =187.040,P =0.034).None of GFAP-labeled Müller cell was seen in sham operation group at both on 7 days and 14 days after operation,but a significant difference was found in the optic nerve axotomy group between the two timepoints ([29.38 ± 2.04]/field vs.[19.07 ± 2.14]/field ; t =-9.868,P=0.000).No significant difference in the number of the GFAP-labeled Müller cells was found in the lens injury combined with optic nerve axotomy group between 7 days and 14 days after operation([48.96±2.80] /field vs.[46.73±1.50]/field,t=1.987,P=0.067).In postoperative 7 days and 14 days after operation,the number of GFAP-labeled Müller cells increased in the lens injury combined with optic nerve axotomy group compared with the optic nerve axotomy group (7 days:t =-15.997,P=0.000; 14 days:t=-29.938,P=0.000).Conclusions In optic nerve axotomy with cataractogenic lens injury eye,the punctural injury of lens induce the activity of Müller cells and further promote the survival of RGCs in the cataratogenic lens injury combined with optic nerve axotomy rat eyes.

Objective To evaluate the clinical efficacy of the over-the-scope-clip (OTSC) for endoscopic closure of acute refractory non-variceal upper gastrointestinal bleeding. Methods This retrospective study selected 16 refractory patients, including 2 cases with Mallory-Weiss syndrome, 7 cases with gastric ulcer, 1 case with gastric carcinoma and 6 cases with duodenal ulcer, underwent OTSC treatment of acute non-variceal upper gastrointestinal bleeding from January 2015 to June 2016 as study subjects. Results All of the 16 patients with bleeding lesions were successfully controlled. The successful rate is 100.0%. The mean procedure of OTSC for endoscopic bleeding closure was between 5.0 and 6.0 min. Conclusion The Over-the-Scope-Clip system is safe and effective for closure of acute non-variceal upper gastrointestinal bleeding in refractory patients, and deserves further clinical applications.

OBJECTIVETo identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis.

METHODSUsing exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations.

RESULTSFamily 1 was polymorphic cataract, family 2 was cerulean cataract, family 3 was coralliform cataract. The inheritance mode of the three pedigrees consisted with autosomal dominant inheritance. In family 1, a nonsense mutation of CRYβB2 gene c.463C>T in exon 6 result in a p.Q155X amino acid change. In family 2, a missense mutation of of CRYGD gene c.43C>T in exon 2 result in a p.R14C amino acid change. In family 3, a missense mutation of CRYGD gene c.70C>A in exon 2 result in a p.P23T amino aid change. No above-mentioned mutations were found in normal individuals.

CONCLUSIONThe nonsense mutation c.463C>T (p.Q155X) of CRYβB2 gene, the heterozygous mutations c.43C>T(p.R14C) of CRYGD gene and c.70C>A( p.P23T) of CRYGD gene was the disease-causing gene mutation in family 1, 2 and 3 respectively, our results provid genetic counseling and prenatal diagnosis for these three families.

Cataract ; genetics ; Genetic Counseling ; Humans ; Mutation ; Pedigree ; Prenatal Diagnosis ; beta-Crystallin B Chain ; genetics ; gamma-Crystallins ; genetics

OBJECTIVE: To explore the clinical and genetic characteristics of a child with MEGDEL syndrome. METHODS: Clinical data of the child was reviewed. Peripheral blood samples of the child and his parents were collected. Mitochondrial genome and the whole exome of the child were analyzed by next-generation sequencing. Candidate variants and its origin were verified by Sanger sequencing and fluorescence quantitative PCR. RESULTS: The patient, a 2-year-and-6-month-old male, has featured hypoglycemia, mental and motor retardation with regression. Cranial MRI showed bilateral putamen damage suggestive of Leigh syndrome. Testing of urine organic acid indicated that the level of 3-methylpentenoic acid was slightly increased. Whole exome sequencing revealed that the child has harbored heterozygous deletion of exons 6 to 17 and c.307A>T nonsense variant of the SERAC1 gene, which were respectively inherited from his parents who were asymptomatic. Treatment with Levocarnitine, vitamin B1, vitamin B2, coenzyme Q10, baclofen and glucuronolactone resulted in improvement of sleep and mental state. CONCLUSION A case of MEGDEL syndrome without deafness was diagnosed. Discovery of the nonsense mutation and large fragment deletion have enriched the spectrum of SERAC1 gene variants.
Child, Preschool ; Hearing Loss, Sensorineural/genetics* ; Humans ; Leigh Disease ; Male ; Metabolism, Inborn Errors/genetics* ; Molecular Biology ; Mutation

Objective:To apply self-directed learning-oriented multi-channel teaching to clinical digestive system integration course and explore its teaching effect.Methods:Seventy undergraduates of Batch 2015 majoring in clinical medicine in a medical college of Shandong Province were selected as subjects. In the clinical digestive system integration course, we designed and implemented multi-channel teaching methods including problem-based learning (PBL), integrated teaching of theory and practice, standardized patient teaching, group focus teaching and moral education. The scores of students' practice examination under the two teaching methods were compared, and the self-assessment of students' autonomous learning ability before and after the intervention was compared. SPSS 20.0 was used for t test. Results:The average total score of practical assessment in the intervention group was (86.10±6.01), which was higher than that (81.84±7.08) of the Batch 2014 students ( P<0.05). The total score of students' self-assessment of autonomous learning ability was (145.41±9.42) before the intervention. By comparison, the total score was (152.94±10.18) after the intervention. Except for the dimension of "self-innovation", the scores of self-directed learning ability in general and other dimensions were significantly different before and after the intervention ( P<0.05). Conclusion:Self-directed learning-oriented multi-channel teaching is a suitable teaching method for the integration curriculum of clinical digestive system.