Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report.

BACKGROUND: Crouzon syndrome (CS), which results from fibroblast growth factor receptor 2 mutations, is associated with craniosynostosis, exophthalmos, and other symptoms. Herein, we report the genetic abnormalities detected in a Chinese family with autosomal dominant CS, combined with luxation of the eyeball. This luxation was a consequence of the trauma to the shallow orbits. CASE PRESENTATION: The proband was a 4-year-old boy. He accidentally fell, following which luxation of the bulbus oculi occurred immediately. Computed tomography and magnetic resonance imaging clearly revealed ocular proptosis. Upon physical examination, the proband, his father, and grandfather had ocular proptosis, shallow orbits, and mid-face hypoplasia. However, their hands and feet were clinically normal. Genomic DNA was extracted from the peripheral blood through a polymerase chain reaction performed for the target sequence. Genetic assessments revealed a heterozygous missense mutation (c.1012G > C, p.G338R) in exon 10 of the human FGFR2, cosegregated with the disease phenotype in this family. These findings confirmed the diagnosis of CS. DISCUSSION: CS is usually caused by FGFR2 mutations. While there are a few reports of luxation of the bulbus oculi in Chinese families with CS, the ocular proptosis, shallow orbits, combined with luxation of eyeball after trauma observed in this patient were particularly interesting. Our findings enhance the current knowledge of traumatic luxation concomitant with CS.

Trachoma in Yunnan province of southwestern China: findings from trachoma rapid assessment.

BACKGROUND: To understand the situation of active trachoma among children aged 6 to 8 years old and scarring trachoma among those aged 15 and over in Yunnan Province, South-western China. METHODS: A rapid assessment of trachoma was conducted to determine the presence or absence of trachoma in Yunnan. Through risk assessment, 9 sites in 8 suspected trachoma epidemic counties were selected. Trachoma Rapid Assessment was conducted in these areas afterwards. Within each sites, 50 students from grade one in local primary school and adults aged 15 and above with suspected scarring trachoma were examined by survey teams. RESULTS: A total of 450 children aged 6-8 years and 160 adults aged 15 and above were screened in 9 sites of 8 counties. Only 1 case of active trachoma was found. Detection rate of active trachoma in children was 0.2%(1/450) in all sites and 2% (1/50)in Pingbian County. Out of 150 adults only 1 case of TT and 1 case of CO were found in all the highest at risk communities. People with scarring trachoma were aged over 60 years. CONCLUSIONS: The active trachoma was rarely seen and trachoma is unlikely to be a significant public health problem in Yunnan Province, South-western China.

In Vivo Confocal Microscopic Evaluation of Corneal Endothelial Dysfunction Induced by Phacoemulcification in Rhesus Monkey Models.

OBJECTIVE: To observe the characteristic morphological changes of corneal endothelial dysfunction induced by phacoemulcification in rhesus monkey models under confocal microscope. METHODS: The corneal endothelial dysfunction models were established by phacoemulcification power on the central corneal of 7 to 9 mm diameter in the right eyes of 4 rhesus monkeys (the modeling group). The left eyes of 4 rhesus monkeys were set as blank control group. The structural changes in different corneal layers were evaluated by slit lamp microscope and in vivo confocal microscope before surgery and 1, 2, 3, and 4 weeks after surgery. SPSS 19.0 software was applied to analyze data. Paired-t test was used to compare the number of nerve plexus in Bowman's layer and corneal endothelial cell density. Analysis of variance (ANOVA) was used to analyze corneal thickness. RESULTS: After phacoemulcification, the changes of cornea occurred gradually in the endothelial layer, stroma, Bowman's membrane, and basal epithelial layer. In the early stage, the interspace of corneal endothelial cells enlarged and few activated stromal cells were detected in the stroma. The cell morphology of stroma altered. The thickness of stroma increased. Two weeks after surgery, the nerve plexus in Bowman's layer decreased and edema of stroma and endothelial layer increased. Three weeks after surgery, the interspace of basal epithelial cells increased with a few Langerhans' cells infiltration and edema of stroma and endothelial layer increased. Four weeks after the surgery, a large amount of Langerhans' cells presented in basal epithelial layer. Only a few nerve lexus could be seen in Bowman's layer. The stroma and endothelial cells had severe edema. A large number of activated stromal cells could be found in stromal layer. Two weeks after the surgery, the number of nerve plexus in Bowman's layer (t=6.9192, P=0.002) and corneal endothelial cell density (t=7.8936, P<0.0001) in the modeling group were significantly lower than that in control group. Compared with corneal thickness in control group, it was significantly larger in the modeling group at 1 (t=28.31, P<0.0001), 2 (t=63.56, P<0.0001), 3 (t=123.22, P<0.0001), and 4 weeks (t=180.80, P<0.0001) after the surgery. CONCLUSIONS: The changes in corneal endothelial dysfunction induced by phacoemulcification in rhesus monkey models can be clearly shown under in vivo confocal microscope. Gradual increase of endothelial cells interspace, activated stromal cells, increase of Langerhans' cells, and decrease of plexus in Bowman's layer are the main changes.

Clinical and pathological characteristics of intraocular cysticercosis.

This study aimed to explore the clinical, radiological, and pathological characteristics of intraocular cysticercosis due to Taenia solium metacestode infection. Total 8 patients diagnosed with intraocular cysticercosis at the Red Cross Hospital of Yunnan Province, China were examined retrospectively. Patients with clear dioptic media had undergone fundus chromophotography. All patients underwent B ultrasonography of the ocular region (CT) successive scanning of the orbit and cerebral tissues. Parasites were extracted surgically and then examined pathologically. The fundus chromophotography showed a white and condensing scolex package in the vesicle. The B ultrasonic examination showed a vesicle-like echogenic mass in the vitreous chamber, in which the high-level echo spot was the cysticercus scolex. The pathological examinations showed that the vesicle wall exhibited hyaline degeneration, inflammatory cell infiltration, neuroglial fiber, and glial cell proliferation layers from the inside to the outside. The scolex is round and is composed of the outer tissue (the body wall) and the inner furrow tissue; these tissues migrated together. Primordially differentiated sucking discs were found in one case, but no hooklets were found. The inner scolex tissue was folded like a paper flower. The severity of intraocular disease is closely correlated with the pathophysiological processes of the cysticercus worm. Pathological examination of the intraocular lesions can help to evaluate the course of the disease as well as to provide a scientific basis for effective antiparasitic medication.

[Experimental study on the rhesus monkey corneal endothelial cells substituted by the allogeneic vascular endothelial cells cultivated in vitro].

OBJECTIVE: To Explore the feasibility of rhesus monkey vascular endothelial cell(RMVEC) transplantation to substitute the allogeneic corneal endothelial cells(CEC), through observe the morphologic and functional change of the vascular endothelial cell which was transplanted to the inner surface of cornea without Descemet's membrane. METHODS: It was an experimental study. The rhesus monkey vascular endothelial cell was cultivated to proliferation and marked by BrdU in vitro. The experimented monkeys are divided into 2 groups: experimental group (6 monkeys), control group (3 monkey). In experimental group: the cultured RMVEC, marked by BrdU, were transplanted onto the posterior surface of rhesus monkey cornea without Descemet's membrane though centrifugal sedimentation, then sew back the corneal graft. In control group: detach the corneal Descemet's Membrane of rhesus monkey but without cultured RMVEC transplantation. Corneal transparency of every monkey was frequently observed postoperation. On 30, 60, 90 postoperative days, corneal graft were respectively detached to observe the distribution, appearance and ultrastructures morphological structure of RMVEC on the inner surface of cornea, by pathological section, anti BrdU monoclonal antibody immunohistochemistry, scanning electronic microscope(SEM) and transmission election microscopy(TEM). RESULTS: Corneal transparency: In the experimental observation period (three months), the corneal graft of experimental group had better transparency than control group and without corneal neovascularization and bullous keratopathy. Pathological section: A layer of cells with BrdU staining positive was found on the posterior surface of cornea in experimental group, indicated the cells are RMVEC. And no cell-like structure was found in control group. SEM: Experimental group showed that RMVEC with irregular shape uniformly distributed on the inner surface of cornea and growing well, a small amount of white blood cells can be seen between RMVEC, and part of cellular debris exist in the trabecular meshwork. Control group showed a fiber material without RMVEC. TEM: The cultured RMVEC and which in posterior surface of cornea was irregular oblateness, a large number of desmosomes link were been seen between RMVEC. Abundant organelles and characteristic WPBs appear in cytoplasm, which suggest the characteristics and vitality of vascular endothelial cells in vivo, and no cell structure in the control group. CONCLUSIONS: Rhesus monkey endothelial cells can growth on the posterior surface of cornea without Descemet's membrane. The cultured cells, with similar ultrastructure to RMVEC in vivo, can play a role of barrier to keep the corneal dehydration and transparency to some extent.

Ragweed pollen induces allergic conjunctivitis immune tolerance in mice via regulation of the NF-κB signal pathway.

AIM: To investigate the feasibility and mechanism of immune tolerance in allergic conjunctivitis. METHODS: The allergic conjunctivitis immune tolerance mice model was established by ragweed pollen (RW) and the related cytokines were detected. The mice were divided into 9 groups and the maslinic acid (MA) or PBS were given for different group after modeling. The expression levels of chemokine ligand 5 (CCL5) and P-65 in the conjunctival tissue were analyzed by immunohistochemistry, quantitative reverse transcription polymerase chain reaction (qRT-PCR) and Western blot. The percentage of interleukin-17 (IL-17) and CD4+CD25+ in the splenocyte supernatant was analyzed by flow cytometry. Furthermore, the serum and splenocyte supernatant concentration of total-IgE, interleukin-10 (IL-10), and IL-17 was analyzed by enzyme linked immune response (ELISA). RESULTS: After the model was established, symptoms of conjunctivitis were alleviated, the level of P-65, CCL5, IL-17, and total-IgE was raised, while the expression of IL-10, CD4+CD25+ was decreased. This result fully demonstrated that a typical IL-17/regulatory-T-cells (Treg cells) imbalance and NF-κB activation. When the NF-κB signal pathway was suppressed, it showed that there was a further relief of conjunctivitis in mice. At the same time, the expression of total-IgE, IL-17, and CCL5 was decreased and the expression of anti-inflammatory factor (IL-10, CD4+CD25+) was increased. CONCLUSION: In the state of immune tolerance, symptoms of conjunctivitis in mice are alleviated, the Th-17 cells of allergic conjunctivitis mice are inhibited, and Treg cells activity is enhanced.

Real-world data on the use of secukinumab as treatment for moderate-to-severe psoriasis in Chinese patients.

BACKGROUND: The efficacy and safety of secukinumab, an interleukin-17 inhibitor, as systemic treatment for patients with moderate-to-severe psoriasis have been demonstrated, but real-world data pertaining to this is limited in China. OBJECTIVE: To evaluate the efficacy and safety of secukinumab in clinical practice in Chinese psoriasis patients with or without psoriatic arthritis (PsA) and identify potential baseline factors that affect the response of patients to secukinumab treatment. MATERIALS & METHODS: Data from 81 patients treated with secukinumab for at least 16 weeks were analysed in a retrospective observational study. RESULTS: After 16 weeks of treatment with secukinumab, 91.1%, 73%, and 38.3% of patients achieved a PASI 75 (75% improvement based on the Psoriasis Area and Severity Index), PASI 90, and PASI 100, respectively. A significant improvement in the quality of life of patients was also observed. Notably, baseline factors, such as young age, lower BMI, no scalp involvement and absence of concomitant PsA, were associated with better clinical response to secukinumab. Approximately 42% of patients (34/81) experienced adverse events, of which the most common was pruritus. CONCLUSION: The results demonstrated that secukinumab appears to be an effective treatment alternative for the majority of Chinese plaque psoriasis patients. Baseline factors, including age, BMI, scalp involvement and concomitant presence of PsA, were associated with response to secukinumab.

The modified polymethyl methacrylate-silicone keratoprosthesis in rabbit model.

PURPOSE: To evaluate the safety and effectiveness of a modified polymethyl methacrylate-silicone keratoprosthesis and its operation method in alkali-burned rabbit model. METHODS AND MATERIALS: The polymethyl methacrylate-silicone keratoprostheses were implanted into seven alkali-burned rabbit corneas by a special operation method using autologous graft as the keratoprosthesis (Kpro) carrier. The long-term postoperative outcomes were evaluated. RESULTS: During a postoperative study period of 16 months, except for one Kpro extruded at 3 months, all Kpros were in good position and were kept transparent without Kpro extrusion, keratolysis, infection, endophthalmitis, or retinal detachment. The postoperative complications included elevated intraocular pressure in two cases and temporary retroprosthetic membrane formation in two cases. CONCLUSION: The modified polymethyl methacrylate-silicone Kpro and its operation method is a relatively safe and effective choice for alkali-burned rabbit eyes. Elevated intraocular pressure is the main complication needing to be resolved.

[Comparison of techniques irrigating and reversing rabbit ear vein to digest, isolate and culture endothelial cells].

OBJECTIVE: To establish the better method for isolating and culturing the endothelial cells (ECs). METHODS: The "irrigative digestion" and "reverse interiorly-exteriorly digestion" methods were performed for digesting, isolating, collecting and culturing the ear vein endothelial cells of rabbit. The trypan blue stain was used to test the cell activity. The third-passage cell was identified by factor VI related antigen. The differences between the methods in cell number, activity and purity were compared to get an optimal method. RESULTS: The number of ECs deriving from the "irrigative digestion" method had no significant difference from that deriving from the "reverse interiorly-exteriorly" method when cells were isolated from rabbit ear vein originally. However, after cultured for 5 or 10 days, the vein endothelial cells from the "irrigative digestion" method showed the growth status superior to those from the "reverse interiorly-exteriorly" method. The cultured cells had a cobble stone appearance with a strict monolayer growth, it could be observed under inverted microscope. The factor VIII related antigen was tested by immunohistochemistry, it supported that the cultured cells was ECs. CONCLUSION: The "irrigative digestion" method is the better choice to isolate endothelial cells from small vessel.

Iris cavernous hemangioma :a case report.

PURPOSE: Cavernous hemangioma of the iris is rarely seen,which can be presented with spontaneous hyphema. METHODS: In this report,we described a case of an iris cavernous hemangioma treated surgically,and the histopathological findings were also presented. RESULTS: Slitlamp biomicroscopy showed a lobulated, reddish-blue temporal iris mass. Anterior segment OCT presented a circumscribed mass of iris stroma at the papillary margin. Histopathologic examination revealed a benign tumor composed of large blood-filled vessels. CONCLUSION: The present case highlights the features of iris cavernous henagioma and demonstrates the histopathological findings.

Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report.

We describe the successful treatment in a patient with bilateral congenital aniridia and cataract by insertion of capsular tension rings and IOL.