Objective To observe the clinical characteristics ofretinoblastoma (RB) in Southwest China.Methods A retrospective clinical study.From January 2010 to December 2017,66 RB patients diagnosed in Ophthalmology Department of West China Hospital of Sichuan University were included in the study.All the patients underwent ocular B-ultrasound,orbital CT or MRI examination.Ten patients underwent RetCam examination at the same time.Twenty-nine patients were diagnosed by histopathological examination,and 37 patients were diagnosed by clinical symptoms and imaging examination.According to whether the tumor invaded the orbit and optic nerve,it could be divided into extraocular stage and intraocular stage.Intraocular tumors were divided into A-E stages according to the international intraocular RB classification.Treatments were performed according to different stages.The general information,age at diagnosis,course of diseases (the time between onset symptoms and diagnosis),causes of visiting a doctor,classification,treatment methods and eyeball preservation rate were retrospectively analyzed.Results Patients all came from Southwest China (56 patients from Sichuan Province,2 patients from Yunnan Province,2 patients from Guizhou Province,and 6 patients from Tibet).The permanent residence were identified in 43 patients,including 27 patients (62.8％) from rural areas.There were 38 males (57.6％);50 unilateral tumors (75.8％) and 16 bilateral tumors (24.2％);51 firstvisiting patients (77.3％) and 15 re-visiting patients (22.7％).The average diagnostic age of first-visiting patients was 20.9 ± 14.4 months,with 23.2 ± 14.7 and 11.2 ± 7.6 months for unilateral and bilateral tumors,respectively.There were 41 patients had definite course and causes,of whom the average course was 90.6± 115.2 days.The most common cause was leucocoria in 32 patients (62.7％),followed by redness and swelling in 4 patients (9.8％),and other causes in 5 patients (12.2％).Among the 15 re-visiting patients,the average diagnostic age was 63.6± 46.8 months,the average course was 32.8 ± 45.5 months.Recurrence was occurred in 5 patients (33.3％),leucocoria in 4 patients (26.7％),postoperative complication in 3 patients (20.0％),protrusion in 2 patients (13.3％) and redness in 1 (6.7％) patient,respectively.Fifty out of 82 eyes were admitted to hospital,including 37 eyes of first-visiting patients and 13 eyes of re-visiting patients.Among 37 first-visiting eyes,there were 5 eyes (13.5％) in stage A-C,26 eyes (70.3％) in stage D-E,6 eyes (16.2％) in extraocular stage.Five eyes in stage A-C were treated with laser photocoagulation and (or) cryotherapy combined with systemic chemotherapy.Four eyes in stage D were treated with intraocular arterial chemotherapy.Nineteen eyes (51.3％) were performed with enucleation,2 eyes (5.4％) with evisceration and 7 eyes (18.9％) abandoned treatment.Among 13 re-visiting eyes,6 eyes (46.2％,with 5 eyes of recurrence) had been enucleated before,4 eyes (30.8％) were in extraocular stage and 3 eyes (23.1％) in stage D-E.Five eyes (38.5％) were treated with evisceration,4 eyes (30.8％) with enucleation,1 eye with oculoplastic surgery and 3 eyes (23.1％) abandoned treatment.The rate of eye preservation was 18.0％,29.0％ for intraocular stage and 0％ for extraocular stage,respectively.Conclusion RB patients in Southwest China have a longer course between onset symptoms and diagnosis,more advanced classification and lower rate of eye preservation.

Objective:To evaluate the expression level of hsa-miR-422a in hypertrophic scars and to identify the target genes of hsa-miR-422a along with their biological functions using bioinformatics approaches.Methods:From June 2020 to December 2020, tissue samples of 3 hypertrophic scar and 3 normal skin were collected from patients (3 males, 3 females, aged 20-42 years) in Department of Plastic and Reconstructive Surgery, Shanghai Ninth People′s Hospital, Shanghai Jiaotong University School of Medicine. Primary fibroblasts were isolated and cultured. Real-time quantitative PCR was performed to quantify the expression of hsa-miR-422a. To construct a ceRNA network, starbase and Target Scandata bases were utilized to predict genes as well as long noncoding RNAs (lncRNAs) that may sponge hsa-miR-422a. GO and KEGG pathway enrichment analyses were conducted on the target genes of hsa-miR-422a; protein-protein interaction (PPI) networks were constructed to identify the hub genes whose functions were predicted by functional enrichment analyses. The expression of hub genes was validated through real-time quantitative PCR in hypertrophic scars.Results:The expression of hsa-miR-422a was significantly lower in the hypertrophic scar tissue samples and fibroblasts compared to that in the normal skin ( P<0.05). 133 target genes as well as 1033 lncRNAs were predicted by starBase and TargetScandata bases and used to construct an hsa-miR-422a-centered ceRNA network. PPI networks of the target genes revealed 10 hub genes, including MAPK1, GRB2, and IGF1R, which were discovered to be related to protein serine/threonine/tyrosine kinase activity, ubiquitin protein ligase binding, fibroblast growth factor receptor signaling pathway, muscle cell proliferation, and many others; besides, they may be involved in FoxO, mTOR, Toll-like receptor, Ras, MAPK, PI3K-Akt signaling pathways and signaling pathways regulating pluripotency of stem cells. Three hub genes (MAPK1, GRB2, and IGF1R) were significantly upregulated in hypertrophic scars ( P<0.05). Conclusions:hsa-miR-422a is significantly downregulated in the hypertrophic scars and may target hub genes such as MAPK1 in ceRNA networks, ultimately modulating hypertrophic scar formation.

Spinal muscular atrophy, lower extremity-predominant, 2A (SMALED2A) is a form of spinal muscular atrophy, which predominantly affects muscles of the lower extremity, characterized by early childhood onset of muscle weakness and atrophy. This disorder is caused by mutation in the BICD2 gene. This paper reports a case of SMALED2A with recurrent skin ulceration of both feet. Whole exome sequencing of this case revealed a chr9∶95527083_A>AGCC insertion mutation in the 5’UTR of BICD2 gene.

Spinal muscular atrophy, lower extremity-predominant, 2A (SMALED2A) is a form of spinal muscular atrophy, which predominantly affects muscles of the lower extremity, characterized by early childhood onset of muscle weakness and atrophy. This disorder is caused by mutation in the BICD2 gene. This paper reports a case of SMALED2A with recurrent skin ulceration of both feet. Whole exome sequencing of this case revealed a chr9∶95527083_A>AGCC insertion mutation in the 5’UTR of BICD2 gene.