Results of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province.@*METHODS@#Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test.@*RESULTS@#Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05).@*CONCLUSION@#Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.

Comparison of long-term macular morphology after laser retinal photocoagulation and anti-VEGF therapy and their effects on vision prognosis for type 1 ROP / 中华实验眼科杂志

Objective:To evaluate and compare the foveal microvascular morphology and central foveal thickness (CFT) after laser retinal photocoagulation and intravitreal injection of anti-vascular endothelial growth factor (VEGF) in patients with retinopathy of prematurity (ROP), and to explore the factors affecting the prognosis of vision.Methods:A cohort study was conducted.Forty children (40 eyes) aged 4-6 years, who had been treated in Peking University People's Hospital for type 1 ROP from January 2019 to December 2020, were enrolled.Optical coherence tomography angiography (OCTA), best corrected visual acuity (BCVA) and refractive status of the patients were examined.The patients were divided into laser retinal photocoagulation group and anti-VEGF group according to they received a single laser retinal photocoagulation therapy or a single intravitreal injection of anti-VEGF drugs (conbercept or ranibizumab 0.25 mg/0.025 mL) after birth.Twenty age-matched full-term healthy children (20 eyes) were enrolled as the normal control group.The FAZ area, superficial and deep foveal vessel density (VD) and CFT of the affected eyes were measured by OCTA at 4-6 years after treatment to investigate the influence of gestational age, birth weight, morphological characteristics of foveal microvessels and CFT on the prognosis of BCVA.This study protocol adhered to the Declaration of Helsinki and was approved by an Ethics Committee of Peking University People's Hospital (No.2017PHB179-01). Written informed consent was obtained from the guardians prior to any medical examination.Results:There were statistically significant differences in FAZ area, superficial foveal VD and deep foveal VD among the three groups ( F=12.321, 8.436, 5.497; all at P<0.05). The FAZ area was smaller, and the superficial and deep foveal VD of the laser photocoagulation group and the anti-VEGF group were greater than those in the normal control group, and the difference was statistically significant (all at P<0.05). The CFT of the laser photocoagulation group was (267.6±11.8)μm, greater than (259.5±12.9)μm of the anti-VEGF group and (242.4±12.3)μm of normal control group, and the CFT value of the anti-VEGF group was greater than that of the normal control group, and the differences were statistically significant (all at P<0.05). There was a strong negative correlation between the superficial foveal VD and FAZ area ( r=-0.713, P<0.05), a moderate negative correlation between the deep foveal VD and FAZ area ( r=-0.565, P<0.05), and a moderate positive correlation between gestational age and FAZ area ( r=0.485, P<0.05). Pearson correlation analysis results showed that gestational age, FAZ, superficial foveal VD, deep foveal VD, CFT were all correlated with BCVA (all at P<0.05). The effects of gestational age and FAZ on BCVA were both statistically significant ( R2=0.615, both at P<0.05). Conclusions:The morphology of microvessels in macular fovea and the prognosis of BCVA in the affected eye is similar at 4-6 years after laser retinal photocoagulation and intravitreal injection of anti-VEGF drugs for type 1 ROP.The CFT of the affected eye after anti-VEGF drug therapy is better than those after laser retinal photocoagulation.Gestational age and FAZ are the influencing factors of visual acuity after treatment in children with type 1 ROP.

Analysis of the association between different treatments and high-risk histopathologic features of bilateral retinoblastomas / 中华眼底病杂志

Objective:To evaluate the pathological features of bilateral retinoblastoma (RB) and the relationship between different treatments and high-risk histopathologic features (HHF).Methods:Retrospective series of case studies. From 1999 to 2018, 73 patients with binocular RB diagnosed by pathological examination in Department of Ophthalmology, Peking University People's Hospital were included in the study. Among them, 50 patients were male (68.5%, 50/73), 23 patients were females (31.5%, 23/73); 11 patitents had a family history of RB. The mean age at the first diagnosis was 14.8±15.6 months. The average time between first diagnosis and first intervention was 3.97±4.74 months. According to the international classification standard of intraocular RB staging, among the 73 eyes, C, D and E stages were 2 (2.7%, 2/73), 15 (20.5%, 15/73), and 56 (76.7%, 56/73) eyes, respectively. Ocular images for each patient were obtained using a wide-angle contact fundus camera during examination under general anaesthesia. The treatment protocol (globe salvaging or enucleation) depended on the result of several clinical features. Globe salvaging treatment included chemotherapy combined with local therapy such as intra-arterial chemotherapy (IAC), intravitreal chemotherapeutics injection, cryotherapy, laser, transpupillary thermotherapy and radiotherapy. If globe salvaging failed, enucleation was offered and histopathologic analysis was conducted of the enucleated eye, the ophthalmic pathologist read and evaluated the presence of HHF. Independent samples t-test was performed to compare the continuous variables. The pathological features and the relationship between different treatments and HHF were analyzed. Group difference was calculated with chi-square. Results:Among the 73 eyes, the first treatment was enucleation in 21 eyes (28.8%, 21/73); 52 eyes (71.2%, 52/73) were treated with eye protection. After enucleation, 9 cases (12.3%, 9/73) had recurrence and metastasis, and 7 cases (9.6%, 7/73) died. The intervention time of patients with recurrence and metastasis and those without recurrence and metastasis were 7.4±7.3 and 3.5±4.1 months respectively; the first intervention time of patients with recurrence and metastasis was significantly later than that of patients without recurrence and metastasis, but the difference was not statistically significant ( t=-1.561, P=0.154). The pathological examination results showed that there were 26 eyes (35.6%, 26/73) with HHF, 4 (26.7%, 15/26) and 22 (39.3%, 22/56) eyes were in stage D and E, respectively. Those who received other treatments before enucleation had lower HHF percentages after enucleation than those who did not receive corresponding treatments, but the difference was not statistically significant ( χ2=1.852, 0.074, 0.000, 1.007, 0.007, 2.729; P>0.05). Among the 26 eyes, 5 (83.3%, 5/6) and 21 (31.3%, 21/67) eyes were treated with systemic chemotherapy combined with and without IAC, respectively, and there was a significant difference in the percentage of HHF ( χ2=4.422, P=0.035). Conclusions:IAC eye-preserving therapy before enucleation has a significant effect on HHF.