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Nasopharyngeal carcinoma (NPC) is ranked the top otorhinolaryngology malignant tumors in the world. However, the general prognosis of recurrent and metastatic (R/M) nasopharyngeal carcinomas (NPCs) remains poor, and current surgery and chemoradiotherapy do not generate satisfactory outcomes.As a new therapeutic choice, immunotherapy, especially with regard to the development of checkpoint inhibitors including PD-1 and CTLA-4 inhibitors have made considerable progress in recent years. As Epstein-Barr virus (EBV) infection is associated with increased risk of NPC, EBV-related immunotherapy may lead to a breakthrough in advanced NPCs.In this review, we summarized the clinical characters of NPC, and several past and ongoing clinical trials of checkpoint inhibitors and EBV-CTLs (CTLs: cytotoxic T lymphocytes) in R/M NPC immunotherapy.We conclude that although the evaluated effects of new immunotherapy drugs have brought us hope on NPC treatment, further phase II-III trials with larger samples are still required to improve the proportion and scheme of drug collocation for better clinical outcomes and less drug-related safety.

Purpose: Combined MMA is related with retinopathy and optic neuropathy. We aimed to find the relationship of genotypes, the levels of metabolites and ocular damages in combined MMA.Methods: We retrospectively analyzed the ocular manifestations, gene tests and levels of organic acid metabolism in seven patients with early-onset combined MMA. Results: Seven patients aged 2 to 7 years old, revealed different gene mutations. Two patients with remarkable retinal degenerations had mutations in MMCHC gene, which were one heterozygous for c.567dupT p.Ile190Tyrfs*13, c.658_660del p.Lys220del, the other one with c.482G>A, p. R161Q, c.567dupT, p. I190Yfs*13 genotypes. Four patients present normal fundus, in whom one was homozygous for c.609G>A, p. W203X, the second one was heterozygous for c.609G>A, p. W203X, c.626dupT p.Thr210Aspfs*35, the third one with c.567dup, p.I190Yfs*13, c.606-641delins CTT, p.W203-R214delinsF, the last one with c.609G>A, p. Trp203*, c.615C>A, p. Tyr205*genotypes. There was one patient who was heterozygous for c.609G>A, p. Trp203*, c.615C>A, p. Tyr205* revealed light color of optic nerve but normal VEP. Elevated level of plasma homocysteine and normal levels of MMA concentrations and its metabolites revealed in two patients with remarkable retinal degenerations, whereas the levels of plasma homocysteine, MMA and its metabolites were normal in five patients without retinal disease.Conclusions: The mutations detected may be related to retinopathy and optic neuropathy in children with combined MMA. Metabolite levels may also affect the clinical manifestations.

Objective: To compare the recurrence rate of retinopathy of prematurity (ROP) after treatment with 0.3 mg vs. 0.25 mg ranibizumab. Subjects: All patients with ROP who underwent intravitreal injection of ranibizumab in Hainan General Hospital between January 2014 and May 2020 were included in this study. Methods: 82 cases (146 eyes) who received intravitreal injection of 0.25 mg ranibizumab were included in the conventional-dose group, and 59 cases (108 eyes) who received intravitreal injection of 0.3 mg ranibizumab were included in the high-dose group. The two groups were further divided into the 25-28-week, 29-31-week, 32-34-week, and 35-36-week GA subgroups. The differences between the conventional-dose group and the high-dose group in gestational age (GA), birth weight(BW), age at initial injection(weeks), incidence of systemic diseases, the recurrence rate of ROP, and age at retinal vascularization completed(weeks) were analyzed. Results: GA, BW, age at initial injection, and the incidence of systemic diseases were not significantly different between the conventional-dose group and the high-dose group (p>0.05). The recurrence rates of ROP were significantly lower in the 25-28-week, 29-31-week, and 32-34-week subgroups of the high-dose group than in the same subgroups of the conventional-dose group (p0.05). Retinal vascularization was completed at a later age in the 32-34-week subgroup of the high-dose group than in the 32-34-week subgroup of the conventional-dose group (p0.05). No severe ocular or systemic complications occurred in any patient. Conclusion: Treatment with 0.3 mg ranibizumab can reduce the recurrence rate of ROP without prolonging retinal vascularization or causing serious systemic complications. Therefore, this dose may be an appropriate therapeutic dose for ROP.

Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is a rare allelic condition with massive drusen in the posterior fundus caused by EFEMP1 gene mutation. Patients showed decreased vision when the lesion affected the macular area. At present, the treatment efficiency is not satisfactory. Case presentation In this study, we presented a family with DHRD/ML disease and analyzed the pathological and genetic information. A 28-year-old female patient presented to our department due to impaired visual acuity for 10 years especially in the right eye with deterioration for 5 months. Gene sequencing was performed by MyGenostics (Peking, China). Gene sequencing results revealed heterozygous mutations in EFEMP1 gene, which were consistent with the DHRD/ ML. Single heterozygous mutation (c.1033C > T) was observed in each of the three blood samples. This missense mutation triggered p.R345W. Conclusions DHRD/ML is a rare disease associated with EFEMP1 gene mutation. Up to now, we are not sure whether these lesions are associated with the onset of DHRD/ML. In future, we hope to find out the exact relationship between them.

To investigate the clinical efficiency of periocular triamcinolone acetonide (TA) injection for treating polypoidal choroidal vasculopathy (PCV) concurrent with hemorrhagic retinal detachment (HRD). Twenty-two cases confirmed with PCV concurrent with HRD characterized by massive subretinal hemorrhage and exudation presented to our department from January 2015 to May 2017 were included in this study. The initial vision varied from counting finger to 0.2. All cases were randomly divided into TA group (n = 12), which received periocular TA injection per month, and anti-VEGF group (n = 10), which were treated by anti-VEGF intravitreous injection per month. The patients were followed up for 6 months, in which fundus examination and visual acuity along with optical coherence tomography (OCT) were carried out. The treatment effect is divided into the following categories. Cure was defined as the elimination of subretinal hemorrhage and exudation accompanied by retinal edema and choroidal neovascularization (CNV) extinction and rise of visual acuity. Improvement was characterized by alleviation of subretinal hemorrhage and exudation accompanied by retinal edema and CNV reduction and rise of visual acuity. Ineffective means remained subretinal hemorrhage and exudation in fundus and no improvement of visual acuity, and polypoid lesions in OCT images. Among the 12 cases in TA group, 1 case was treated by periocular injection of TA twice, and 11 cases were treated by 3 times injection. After that, 3 cases (25%) were cured, 8 cases (66.7%) got improvement, and only 1 case (8.3%) showed no response. Although among 10 cases in the anti-VEGF group, 3 cases were treated by anti-VEGF intravitreous injection twice. Seven cases were treated by 3 times injection. After that, 4 cases (40%) got improvement, and the other 6 case (60%) showed no response. All patients showed no recurrence in the 6-month follow-up. No complications were noticed under periocular injection or intravitreous injection. Periocular TA injection is effective for treating PCV concurrent with HRD.