Special congenital dacryocystocele.

Congenital Dacryocystocele is a rare disease of the eye and nose, which originates from congenital obstruction of lacrimal duct system, but accounts for a low proportion in congenital obstruction of lacrimal duct system. We present a case of congenital dacryocystocele to analyze the clinical features and to explore the clinical treatment effect of special congenital dacryocyst protrusion.

Different transcriptome profiles between human retinoblastoma Y79 cells and an etoposide-resistant subline reveal a chemoresistance mechanism.

BACKGROUND: Retinoblastoma (RB) is the most frequent pediatric retinal tumor. In the present study, to elucidate chemoresistance mechanisms and identify potential biomarkers in RB, we utilized RNA sequencing (RNAseq) technological platforms to reveal transcriptome profiles and identify any differentially expressed genes (DEGs) between an etoposide drug-resistant subline (Y79/EDR) and parental Y79 cells. METHODS: To test whether Y79/EDR cells showed resistance to antineoplastic agents for RB, we treated the cells with etoposide, carboplatin and vincristine and analyzed them with a Cell Counting Kit-8 (CCK-8). Y79/EDR and parental Y79 cells were used for RNAseq and bioinformatics analysis to enable a genome-wide review of DEGs between the two lines using the DESeq R package (1.10.1). Then, DEG enrichment in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways was analyzed with KOBAS software. Next, real-time quantitative reverse transcription polymerase chain reaction (real time QRT-PCR) and cytotoxicity assays were performed to experimentally and functionally validate the identified candidate biomarkers. RESULTS: Y79/EDR cells showed resistance to etoposide, carboplatin and vincristine at different concentrations. In total, 524 transcripts were differentially expressed in Y79/EDR cells based on analysis of fragments per kilobase of transcript per million fragments mapped (FPKM); among these, 57 genes were downregulated and 467 genes were upregulated in Y79/EDR cells compared to parental Y79 cells. We selected candidate DEGs, including ARHGAP9, HIST1H4H, RELN, DDIT4, HK2, STC1 and PFKFB4, for mRNA expression validation with real time QRT-PCR assays and found that the expression levels determined by real time QRT-PCR were consistent with the RNAseq data. Further studies involving downregulation of ARHGAP9 with a specific siRNA showed that ARHGAP9 altered the cellular sensitivity of Y79 cells to etoposide and carboplatin. CONCLUSION: Our initial findings provided a genomic view of the transcription profiles of etoposide-induced acquired resistance in RB. Follow-up studies indicated that ARHGAP9 might be a chemoresistance biomarker in RB, providing insight into potential therapeutic targets for overcoming acquired chemoresistance in RB. These findings can aid in understanding and overcoming chemoresistance during treatment of RB in the clinic.

Selection signature reveals genes associated with susceptibility loci affecting respiratory disease due to pleiotropic and hitchhiking effect in Chinese indigenous pigs.

BACKGROUND: Porcine respiratory disease is one of the most important health problems which causes significant economic losses. OBJECTIVE: To understand the genetic basis for susceptibility to swine enzootic pneumonia (EP) in pigs, we detected 102,809 SNPs in a total of 249 individuals based on genome-wide sequencing data. METHODS: Genome comparison of three susceptibility to swine EP pig breeds (Jinhua, Erhualian and Meishan) with two western lines that are considered more resistant (Duroc and Landrace) using XP-EHH and FST statistical approaches identified 691 positively selected genes. Based on QTLs, GO terms and literature search, we selected 14 candidate genes that have convincible biological functions associated with swine EP or human asthma. RESULTS: Most of these genes were tested by several methods including transcription analysis and candidated genes association study. Among these genes: CYP1A1 and CTNNB1 are involved in fertility; TGFBR3 plays a role in meat quality traits; WNT2, CTNNB1 and TCF7 take part in adipogenesis and fat deposition simultaneously; PLAUR (completely linked to AXL, r2=1) plays an essential role in the successful ovulation of matured oocytes in pigs; CLPSL2 (strongly linked to SPDEF, r2=0.848) is involved in male fertility. CONCLUSION: These adverse genes susceptible to swine EP may be selected while selecting for economic traits (especially reproduction traits) due to pleiotropic and hitchhiking effect of linked genes. Our study provided a completely new point of view to understand the genetic basis for susceptibility or resistance to swine EP in pigs thereby, provide insight for designing sustainable breed selection programs. Finally, the candidate genes are crucial due to their potential roles in respiratory diseases in a large number of species, including human.

Endoscopic dacryocystorhinostomy to treat congenital nasolacrimal canal dysplasia: a retrospective analysis in 40 children.

BACKGROUND: To investigate the therapeutic effectiveness and safety of endoscopic dacryocystorhinostomy (EN-DCR) to treat congenital nasolacrimal canal dysplasia (CNCD). METHODS: Forty children (50 eyes) with congenital nasolacrimal duct obstruction (CNLDO) and lacrimal bony dysplasia, including 8 children with bony atresia (10 eyes) and 32 with bony stenosis (40 eyes), were recruited in this retrospective study. Standardized EN-DCR was performed in all cases. The postoperative observations included relief of symptoms, fluorescein dye disappearance test (FDDT), syringing of lacrimal passages and anastomotic patency under nasal endoscopy. Patients were followed up for 8-18 months. RESULTS: Standardized EN-DCR surgery had a success (cure and improvement) rate of 100%, including a cure rate of 82% and an improvement rate of 18%. The cure rate among 40 cases of bony nasolacrimal duct stenosis was 82.5%, while that of 10 cases of bony nasolacrimal duct atresia was 80%. Statistical analysis showed that nether the receipt of other treatments before surgery nor the type of bony nasolacrimal duct dysplasia affected the cure rate. No significant complications were observed during postoperative follow-up except for four cases (4 eyes) that suffered middle turbinate and nasal mucosal adhesion and two cases with sinusitis. CONCLUSIONS: CNCD is a type of CNLDO that does not respond to conservative and conventional treatment. EN-DCR represents a safe and effective treatment for children with CNCD. In addition, the combination of EN-DCR with lacrimal CT scanning provides advantages over traditional lacrimal surgery in that it has a high success rate with a low incidence of complications.

[Visual function of seven children with malignant osteopetrosis after hematopoietic stem cell transplantation].

OBJECTIVE: To detect long-term ocular alteration of children with malignant osteopetrosis after hematopoietic stem cell transplantation. METHODS: Children diagnosed as osteopetrosis from 5 months to 31 months underwent hematopoietic stem cell transplantation. Computed tomography of optic canal, FVEP, ERG and fundus examination were applied to assess the visual function. RESULTS: Bone marrow transplantation was successful. Peripheral blood test, splenohepatomegalia and osteosclerosis improved gradually. The mean optic canal diameters of right eyes before transplantation was (1.7 ± 0.4)mm. The mean optic canal diameters of right eyes was (3.2 ± 0.7)mm after transplantation. The mean optic canal diameters of left eyes before transplantation was (1.9 ± 0.5)mm . The mean optic canal diameters of left eyes was (3.1 ± 0.8)mm after transplantation. The difference between above two groups was statistically significant(t = -5.204, -4.211;P < 0.05). P2 latency period of FVEP prolonged in 7 cases before transplantation. Mean P2 latency period of FVEP decreased 21.13 ms in 5 cases after transplantation. Mean P2 latency period of FVEP prolonged 22.25 ms in 2 cases after transplantation. Under light adaptation and dark adaptation, ERG amplitude depressed obviously in 2 cases. Two cases with optic nerve atrophy did not change after transplantation. CONCLUSIONS: Hematopoietic stem cell transplantation is an effective way to deal with malignant osteopetrosis. Successful transplantation has been shown to arrest visual deterioration in some cases.

[Congenital dacryocystocele: presentation and treatment].

OBJECTIVE: To report the presentation, complications, and treatment strategies for infants with congenital dacryocystocele. METHOD: We performed a retrospective chart review of all patients presenting with dacryocystoceles to Beijing Children's Hospital between 2007 and 2011. RESULTS: Thirty-one patients (33 eyes) were identified, presenting at a median age of 10 days of life. Twenty-four (72.72%) patients presented with cellulitis or dacryocystitis and required systemic antibiotics. Two (6.45%) patients presented with respiratory compromise. Resolution occurred with conservative treatment for 6 eyes, but 27 (81.82%) required surgical intervention. All 27 eyes received probing, and 20 (74.07%) were successful. The other 7 eyes required marsupialization of an intranasal cyst. CONCLUSIONS: Although congenital dacryocystoceles may resolve with conservative measures, many become infected and require systemic antibiotic treatment, and most require surgical intervention. Referral in the early neonatal period can aid in timely intervention before complications such as infection occur.

[Application value of computed tomography dacryocystography in children lacrimal diseases].

OBJECTIVE: To explore the application value of computed tomography (CT) dacryocystography in children lacrimal diseases. METHODS: Retrospective case series. The results of CT dacryocystography in 300 children (395 eyes) with lacrimal diseases from October 2009 to October 2011 in Beijing Children Hospital were analyzed retrospectively. RESULTS: Among 240 children (326 eyes) with congenital nasolacrimal duct obstruction, the sites of obstruction were in the common canaliculus or upper position in 6 eyes (1.8%), in the lacrimal sac in 38 eyes (11.7%), at the borderline between lacrimal sac and nasolacrimal duct in 213 eyes (65.3%) and at the terminal of nasolacrimal duct in 69 eyes (21.2%). CT dacryocystography could display the obstruction position of lacrimal duct in congenital nasolacrimal duct obstruction. In unilateral congenital nasolacrimal duct obstruction, CT dacryocystography indicated that nasolacrimal canal in affected side were much larger than that in normal side. It could show the destruction of lacrimal soft tissue and the fossa of lacrimal sac in traumatic lacrimal duct obstruction. CT dacryocystography was also the main subsidiary method for the diagnosis of congenital dacryocystocele, congenital nasolacrimal canal agenesis and lacrimal sac diverticula. CONCLUSIONS: CT dacryocystography can provide important aspects for the diagnosis and treatment of children lacrimal diseases. Therefore, it can be used as an important image examination method in children with lacrimal diseases.

[Study on the setup of a new technique of tissue and cell culture for vitreous fluid of vitrectomy].

OBJECTIVE: To setup a new technique of tissue and cell culture for vitreous aspirates. METHODS: Experiment study. Specimens used for supporting new culture technique were selected based on random digit table. Thirty cases with rhegmatogenous retinal detachment (RRD) and forty-eight with proliferative diabetic retinopathy (PDR), which undergoing primary pars plana vitrectomy, were selected randomly and included in the study. After being antiphase stained with fluorescein-natrium (0.5%) and digested with hyaluronidase (10(5) U/L) combined with collagenase I (10(6) U/L) for removing vitreous gel, sediment of vitreous fluid after centrifugation were inoculated into standard culturing bottle with which polylysine (0.01%) was pre-set. The bottle which contained F12 medium with 30% fetal bovine serum was placed upside down for 24 hours and consecutively upside for 6 days. During which, F12 medium was replaced once in half volume, and cell growth along the edge of sedimentary membrane was observed at time of the 3rd and the 6th day after upside culture. RESULTS: Under condition of pre-setting by polylysine (0.01%) and being placed upside down for 24 hours, pieces from vitreous fluids could adhere to the bottom of bottle in a way of semi-xerosis with adherence rate of 100% (78/78). No bacteria, fungus and mycoplasma contamination was found within 7 days. Antiphase stained with fluorescein-natrium (0.5%) and digested with hyaluronidase (10(5) U/L) combined with collagenase I (10(6) U/L) for 30 minutes, vitreous gel in 78 specimens could be digested (78/78). Cell emigration could be found in edge area of some pieces of vitreous fluid and cell growth as well as proliferation was shown. In 30 specimens of RRD, cell growth rate were 43.33% (13/30). In 48 specimens of PDR, cell growth rate were 37.50% (18/48). Concerning PDR phase V (PDR-V), cell growth rate reach 41.67% (10/24). CONCLUSIONS: Enzymolysis with upside down and semi-xerosis could ensure good adherence of membrane, moreover, no contamination and obvious cell growth could be found within short-term culture. These suggested that a new technique for judging viability of cell from proliferative membrane and predicting recurrent risk after surgery of proliferative ocular fundus disease could be expected.

[Lacrimal intubation with the Ritleng system in congenital nasolacrimal duct obstruction in children].

OBJECTIVE: To evaluate the efficacy and complication of the Ritleng lacrimal intubation system in the treatment of congenital nasolacrimal duct obstruction. METHODS: In this retrospective cases series, 148 patients (187 eyes) with congenital nasolacrimal duct obstruction between 2006 and 2007 from Beijing Children's Hospital, whose age ranged from 5 to 40 months (average 13 months), underwent silicone intubation with the Ritleng lacrimal intubation system, who received unsuccessful probing procedure previously. The therapeutic effect including dacryorrhea disappearance and lacrimal passages excretory function regaining was observed and the complications such as epistaxis, lacrimal duct edema or silicone tube prolapse were recorded. The follow-up period was from 4 to 17 months (average 11 months). RESULTS: Dacryorrhea disappeared in 157 eyes (84.0%) within 1 - 3 days after the surgery. The tubes were left in the place for 3 or 6 months. All the 187 eyes were successfully taken out of tubes. As follow-up, the overall successful rate was 95.2% (178/187). Seven eyes (3.7%) relief from symptoms and two eyes (1.1%) were ineffective. 46 cases (52 eyes), whose ages were about 5 months, regained normal lacrimal passages excretory function within 1 month after surgery. Complication included epistaxis (9 eyes) and lacrimal duct edema (9 eyes). The silicone tube prolapsed in eight eyes (4.3%). CONCLUSIONS: The Ritleng lacrimal intubation system is an easy, effective and nontraumatizing procedure for the treatment of congenital nasolacrimal duct obstruction. The lacrimal intubation procedure offers an early and active treatment for congenital nasolacrimal duct obstruct patients.

Flavonoids derived from liquorice suppress murine macrophage activation by up-regulating heme oxygenase-1 independent of Nrf2 activation.

Liquiritigenin (LQG), isoliquiritin (ILQ) and isoliquiritigenin (ILG) are flavonoids derived from liquorice and all possess a similar chemical structural backbone. In the current study, we found that ILQ and ILG had suppressive effects on lipopolysaccharide (LPS)-induced inflammatory responses in murine macrophage by suppressing the iNOS and COX-2 proteins and mRNA expression. A mechanistic study indicated that the effect was associated with an induction of antioxidant and detoxification enzymes, including UGT1A1, NQO1, and heme oxygenase-1 (HO-1) mRNA expression. The regulator of these enzymes, nuclear factor-erythroid 2-related factor 2 (Nrf2), which plays a critical role in LPS-induced inflammatory responses, could be activated by ILQ and ILG. Additionally, ILQ and ILG promoted Nrf2 signaling activation by inhibiting the Kelch-like ECH-associated protein 1 (Keap1) and increasing Nrf2 translocation, inducing the expression of these antioxidant enzymes. We further found that ILQ and ILG induced HO-1 expression independent of Nrf2 expression. With respect to the effect of these compounds on NF-κB signaling, ILG was found to markedly inhibit IκBα degradation and phosphorylation, while LQG and ILQ had no significant effects. These results indicate that there are correlations between the anti-inflammatory responses and the chemical structural properties of these flavonoids.

Magnetic resonance imaging of unilateral vertical retraction syndrome with atypical strabismus.

We report two patients with unilateral vertical retraction syndrome. Magnetic resonance imaging (MRI) of the orbits of the two cases showed similar size and location of the orbital structure, but with dramatically different strabismus type. MRI sagittal reconstruction of the orbits suggested that abnormal muscle tissue arised from the inferior rectus, which might be associated with retraction and narrowing of the palpebral fissure and atypical strabismus as well.