Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis.

AIM: To explore the hotspots and frontiers of genetic research on pediatric cataracts. METHODS: Global publications from 2013 to 2022 related to genes in pediatric cataracts were extracted from the Web of Science Core Collection, and were analyzed in terms of the publication counts, countries, journals, authors, keywords, cited references, subject categories, and the underlying hotspots and frontiers. RESULTS: Totally 699 publications were included in the final analysis. The predominant actors were identified, with China (n=240) and PLoS One (n=33) being the most productive country and journal respectively. The research hotspots extracted from keywords were crystallin gene mutations, pathogenicity evaluation, phenotypes of ocular and neurodevelopmental abnormalities, genes encoding membrane proteins, and diagnosis of multisystemic disorders. The co-cited articles formed 10 clusters of research topics, including FYCO1 (56 items), mutation screening (43 items), gap junction (29 items), the Warburg Micro syndrome (29 items), ephrin-A5 (28 items), novel mutation (24 items), eye development and function (22 items), cholestanol (7 items), OCRL (6 items), and pathogenicity prediction (3 items). The research frontiers were FYCO1, ephrin-A5, and cholestanol. Cell biology showed the strongest bridging effects among different disciplines in the field (betweenness centrality=0.44). CONCLUSION: With the progress in next-generation sequencing and multidisciplinary collaboration, genetic research on pediatric cataracts broadens the knowledge scope of the crystalline lens, as well as other organs and systems, shedding light on the molecular mechanisms of systemic diseases. Cell biology may integrate multidisciplinary content to address cutting-edge issues in the field.

Agreement of corneal curvature and central corneal thickness obtained from a swept-source OCT and Pentacam in ectopia lentis patients.

AIM: To assess the inter-device consistency of corneal curvature and central corneal thickness between Pentacam and a swept-source Fourier-domain anterior segment optical coherence tomography (AS-OCT) in ectopia lentis patients. METHODS: Totally 72 eyes of ectopia lentis patients were recruited. Central corneal thickness (CCT), corneal curvature values and corneal astigmatism were obtained from both the Pentacam and AS-OCT (CASIA2). Repeatability was evaluated for both devices. The coefficient of repeatability (COR) and the relative COR was calculated. Bland-Altman plots were conducted to evaluate the inter-device agreement of measurement. Orthogonal linear regression was used to examine any proportional bias. RESULTS: The mean difference of CCT, steep anterior corneal curvature (anterior KS), flat anterior corneal curvature (anterior Kf), anterior corneal astigmatism (ACA), steep posterior corneal curvature (posterior KS), flat posterior corneal curvature (posterior Kf), posterior corneal astigmatism (PCA), steep true net power (TNP KS), flat true net power (TNP Kf) and total corneal astigmatism (TCA) between Pentacam and CASIA2 were 7.03±9.70 µm, -0.19±0.41 D, -0.27±0.35 D, 0.04±0.47 D, -0.17±0.23 D, -0.11±0.11 D, -0.02±1.02 D -0.41±0.43 D, -0.52±0.46 D, and -0.15±0.96 D, respectively. For measurement of TNP Kf with the Pentacam and CASIA2, a mean difference of 0.52 D and COR of 0.90 with P=0.02 was detected. There was no significant difference in CCT (P=0.393), anterior Kf (P=0.107), anterior Ks (P=0.414), ACA (P=0.131), posterior Kf (P=0.286), posterior Ks (P=0.418), PCA (P=0.105), TNP Ks (P=0.054), and TCA (P=0.977) between Pentacam and CASIA2. CONCLUSION: Our study reveals good agreement of CCT, corneal curvature and corneal astigmatism measured by CASIA2 and Pentacam in ectopia lentis patients. However, there was significant difference for CCT and corneal curvature values obtained by the two devices.

Trends and characteristics of congenital ectopia lentis in China.

AIM: To elucidate the trends and characteristics of congenital ectopia lentis (CEL) in southern China. METHODS: CEL patients from China admitted to Zhongshan Ophthalmic Center (ZOC) from January 2006 to December 2015 were recruited in our study. Residence, gender, hospitalization time, age at surgery, and the presence of other ocular abnormalities and system disease were statistically analyzed in different subgroups. RESULTS: Four hundred and thirty-seven hospitalizations (306 in-patients) diagnosed with CEL from a total of 283 308 hospitalizations were identified, which accounted for 0.15% of the total in-patients. Of the identified CEL in-patients, the total ratio of boys to girls was 2.22:1. Based on a subgroup analysis according to age, patients aged 12-18 years old constituted the highest proportion (31.70%) of all hospitalized CEL patients, and those 0-3 year old constituted the lowest proportion (8.82%) of the total number. The number of CEL increased from 18 to 72 and the hospital based prevalence increased from 8.60% to 18.10% from 2006 to 2015, and the average age at surgery decreased from 9 years old in 2006 to 7.6 years old in 2015. CONCLUSION: The results reveal upward trends in both the number of CEL hospitalizations and hospital based prevalence of CEL in this 10-year study period, but a reduction in the age at surgery, which may reflect the increase of public awareness of children's eye care in China.

Association of COL1A1 polymorphism with high myopia: a Meta-analysis.

AIM: To investigate the association between collagen type I alpha 1 (COL1A1) gene and high myopia. METHODS: In this Meta-analysis, we examined 5 published case-control studies that involved 1942 high myopia cases and 2929 healthy controls to assess the association between the COL1A1 rs2075555 polymorphism and high myopia risk. We calculated the pooled odds ratios (ORs) of COL1A1 rs2075555 polymorphism in high myopia cases vs healthy controls to evaluate the strength of the association. RESULTS: Overall, there was no significant difference both in the genotype and allele distributions of COL1A1 rs2075555 polymorphism between high myopia cases and healthy controls: CC vs AA OR=1.10, 95% confidence interval (CI)=0.76-1.58; AC vs AA OR=0.98, 95%CI 0.80-1.20; CC/AC vs AA/OR=1.01, 95%CI 0.84-1.22; CC vs AC/AA OR=1.06, 95%CI=0.93-1.20; C vs A OR=1.06, 95%CI 0.91-1.23). In addition, in the stratified analyses by ethnicity, no significant associations were found in any genetic model both in European and Asia cohorts. CONCLUSION: Our results indicate that the COL1A1 rs2075555 polymorphism may not affect susceptibility to high myopia.

[Effect of bee pollen on development of immune organ of animal].

OBJECTIVE: To study on the effect of been pollen on development of immune organ of animal. METHOD: A total of 144 one day-old broilers were randomly divided into 2 groups, in which each group included 72 chickens. The control group was fed on the basal diet for 42 days, and that of experiment group supplemented 1.5% bee pollen. Six chickens in each group were selected and slaughtered at 7, 14, 21, 28, 35, 42 days respectively, and the thymuses, cloacal bursa and spleens were obtained, weighted, fixed in Bouin liquid and made into paraffin section. RESULT: Compared with control group, the weight and the relative weight of thymuses, cloacal bursa and spleens of experiment group increased significantly (P < 0.05) or extremely significantly (P < 0.01). In experiment group, the cortex of thymic lobule, bursa nodule and Periarterial Lymphatic Sheaths thicken obviously; the volume of bursa nodule, splenic nodule and ellipsoid augmented, and the germinal center of splenic nodule were obvious; the thymic corpuscle increased; the plica of cloacal bursa developed well and the degenerating of it retarded. CONCLUSION: The diet supplemented bee pollen could boost the early development of thymus and cloacal bursa, retard the degenerating of cloacal bursa and promote the immune response of spleen.

[Respiratory control in obstructive sleep apnea hypopnea syndrome].

OBJECTIVE: To evaluate the role of ventilatory control in obstructive sleep apnea hypopnea syndrome (OSAHS). METHODS: Thirty-five patients with OSAHS were compared with 15 obese controls in pulmonary function, hypoxic ventilatory response (HVR), hypercapnic ventilatory response (HCVR) and polysomnography (PSG). RESULTS: (1) There were no differences in HVR and HCVR between patients with OSAHS and the control (t = 1.28, 0.57; P > 0.05). In OSAHS patients, HVR was correlated with nadir nocturnal oxygen saturation (MmS(P)O(2)) (r = -0.54, P < 0.01) and HCVR (r = 0.57, P < 0.01). (2) Patients with mild and moderate OSAHS had higher HVR than those with severe OSAHS (t = 2.74, P < 0.01). When 5 < or = apnea and hypopnea index (AHI) < 40, HVR was negatively correlated to forced expiratory volume in one second (FEV(1))/peak expiratory flow (PEF) (r = -0.42, P < 0.05) and AHI (r = -0.68, P < 0.01). For those whose AHI > or = 40, HVR was negatively correlated with MmSpO(2) (r = -0.58, P < 0.05) and positively correlated with HCVR (r = 0.59, P < 0.05). CONCLUSION: In OSAHS patients, HCVR did not show significant change, but HVR showed two phasic change-increase first and then decrease-following the elevation of AHI, which was also related to MmSpO(2) and HCVR.

[Ventilatory control in familial obstructive sleep apnea-hypopnea syndrome].

OBJECTIVE: To investigate the genetic abnormality of ventilatory control may play a role in the familial aggregation of obstructive sleep apnea-hypopnea syndrome (OSAHS). METHODS: Ten severe patients with OSAHS, 16 first relatives of them and 14 obese subjects were studied and the hypoxic ventilatory response (HVR), the hypercapnic ventilatory response (HCVR) and the results of PSG were analyzed. HVR and HCVR of OSAHS patients were re-examined in the first, second and third month of continuous positive airway pressure(CPAP) treatment. RESULTS: (1) For the relatives of the OSAHS patients, the apnea-hypopnea index (AHI) was (28.4 +/- 39.1)/h, the incidences of snoring and daytime sleepiness were 100% and 90%, They were higher than those of the control (P < 0.05, P < 0.01, P < 0.01). OSAHS had familial aggregation. (2) The HVR and HCVR were (-19 +/- 24) cm H2O and (0.31 +/- 0.35) cm H2O/mm Hg for the relatives.Neither HVR nor HCVR showed difference between the relatives and the control (P > 0.05). Only two of the relatives with severe OSAHS had lower HVR, while the others, whether accompanied with OSAHS or not, had similar HVR and HCVR to the control. (3) HVR and HCVR returned to normal after CPAP therapy in patients of OSAHS. CONCLUSION: OSAHS had familial aggregation, but it was not related to genetic abnormality of ventilatory control.