OBJECTIVE: To explore the genetic basis of a child with Chanarin-Dorfman syndrome (CDS) manifesting as ichthyosis. METHODS: A child who had presented at Henan Provincial People's Hospital in June 2023 was selected as study subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. Relevant literature was searched in databases using key words "Chanarin-Dorfman syndrome" and "ABHD5 gene". The clinical manifestations and variant sites of previously reported cases were compiled and analyzed for correlations. This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital [Ethics No.: (2019) Jun Shen No. (134)]. RESULTS: WES revealed that the child has harbored compound heterozygous variants of the ABHD5 gene, namely c.99_103del (p.H34*) in exon 2 and c.770C>G (p.P257R) in exon 5, which were inherited from her father and mother, respectively. Bioinformatic analysis suggested that both variants were pathogenic. Literature review indicated that the affected organs in CDS are ranked from most to least including liver, eyes, ears, nervous system, muscles, spleen, and kidneys. The c.594insC and c.594dupC variants are most common. CONCLUSION The identification of the two novel ABHD5 gene variants has enriched the mutation spectrum of CDS. c.594insC or c.594dupC are hotspot mutations of this disease, albeit with no definitive correlation between the genotype and phenotype.
Humans ; Female ; Ichthyosiform Erythroderma, Congenital/genetics* ; Lipid Metabolism, Inborn Errors/genetics* ; Phenotype ; 1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics* ; Mutation ; Muscular Diseases/genetics* ; Exome Sequencing ; Child ; Male ; Child, Preschool

Objective:To observe and analyze the correlations between aqueous humor cytokine concentrations and disorganization of retinal inner layers (DRIL), as well as postoperative visual acuity, in patients with idiopathic epiretinal membrane (iERM).Methods:A prospective clinical study. From November 2022 to October 2024, 40 eyes of 40 patients diagnosed with iERM at Ophthalmology Center of Zhejiang Provincial People's Hospital (Affiliated People's Hospital) underwent cataract surgery alone or combined with pars plana vitrectomy (iERM group) were enrolled; 19 eyes of 19 patients undergoing cataract surgery alone during the same period served as the control group. All eyes underwent best-corrected visual acuity (BCVA) testing and swept-source optical coherence tomography (SS-OCT). BCVA was assessed using a logarithmic visual acuity chart and converted to the logarithm of the minimum angle of resolution (logMAR) for statistical analysis. Central macular thickness (CMT) was measured using SS-OCT. The iERM group was further subdivided into DRIL-positive and DRIL-negative subgroups (21 eyes and 19 eyes, respectively), based on the presence or absence of DRIL. Aqueous humor samples were collected preoperatively from eyes in both the iERM and control groups. Concentrations of transforming growth factor (TGF)-β1, TGF-β2, TGF-β3, platelet-derived growth factor (PDGF)-AB, hepatocyte growth factor, fibroblast growth factor, vascular endothelial growth factor-A (VEGF-A), placental growth factor (PLGF), glial cell line-derived neurotrophic factor (GDNF), intercellular adhesion molecule-1 (ICAM-1), angiopoietin (Ang)-1, Ang-2, tumor necrosis factor-α (TNF-α), and interleukin-6 (IL-6) were measured. Follow-up examinations using the same equipment and methods were performed at 1 month postoperatively. Aqueous cytokine levels were compared between the iERM group, control group, DRIL-positive subgroup, and DRIL-negative subgroup. Correlations between aqueous cytokine levels in the iERM group and BCVA or CMT were also analyzed. Intergroup comparisons utilized the Mann-Whitney U test; correlations between variables were assessed using Spearman's rank correlation analysis. Results:Compared to the control group, the iERM group exhibited significantly higher aqueous concentrations of TGF-β1, TGF-β3, PDGF-AB, PLGF, GDNF, ICAM-1, Ang-1, and TNF-α ( P<0.05). Compared to the DRIL-negative subgroup, the DRIL-positive subgroup showed significantly elevated aqueous concentrations of TGF-β3, PDGF-AB, PLGF, GDNF, ICAM-1, Ang-1, Ang-2, TNF-α, and IL-6 ( P<0.05). Significant differences were observed in logMAR BCVA ( P=0.028) and CMT ( P<0.001) within the iERM group between preoperative and 1-month postoperative measurements. LogMAR BCVA differed significantly between the DRIL-positive and DRIL-negative subgroups ( P=0.048). Correlation analysis revealed that baseline aqueous levels of VEGF-A and IL-6 in eyes with DRIL were positively correlated with postoperative BCVA ( r=0.324, 0.452; P=0.042, 0.003). No significant correlation was found between CMT and any cytokine ( P>0.05). Conclusions:Aqueous humor cytokines are closely associated with DRIL in iERM patients. IL-6 and VEGF-A may serve as potential predictive biomarkers for early postoperative visual recovery.

Objective:To observe and analyze the correlations between aqueous humor cytokine concentrations and disorganization of retinal inner layers (DRIL), as well as postoperative visual acuity, in patients with idiopathic epiretinal membrane (iERM).Methods:A prospective clinical study. From November 2022 to October 2024, 40 eyes of 40 patients diagnosed with iERM at Ophthalmology Center of Zhejiang Provincial People's Hospital (Affiliated People's Hospital) underwent cataract surgery alone or combined with pars plana vitrectomy (iERM group) were enrolled; 19 eyes of 19 patients undergoing cataract surgery alone during the same period served as the control group. All eyes underwent best-corrected visual acuity (BCVA) testing and swept-source optical coherence tomography (SS-OCT). BCVA was assessed using a logarithmic visual acuity chart and converted to the logarithm of the minimum angle of resolution (logMAR) for statistical analysis. Central macular thickness (CMT) was measured using SS-OCT. The iERM group was further subdivided into DRIL-positive and DRIL-negative subgroups (21 eyes and 19 eyes, respectively), based on the presence or absence of DRIL. Aqueous humor samples were collected preoperatively from eyes in both the iERM and control groups. Concentrations of transforming growth factor (TGF)-β1, TGF-β2, TGF-β3, platelet-derived growth factor (PDGF)-AB, hepatocyte growth factor, fibroblast growth factor, vascular endothelial growth factor-A (VEGF-A), placental growth factor (PLGF), glial cell line-derived neurotrophic factor (GDNF), intercellular adhesion molecule-1 (ICAM-1), angiopoietin (Ang)-1, Ang-2, tumor necrosis factor-α (TNF-α), and interleukin-6 (IL-6) were measured. Follow-up examinations using the same equipment and methods were performed at 1 month postoperatively. Aqueous cytokine levels were compared between the iERM group, control group, DRIL-positive subgroup, and DRIL-negative subgroup. Correlations between aqueous cytokine levels in the iERM group and BCVA or CMT were also analyzed. Intergroup comparisons utilized the Mann-Whitney U test; correlations between variables were assessed using Spearman's rank correlation analysis. Results:Compared to the control group, the iERM group exhibited significantly higher aqueous concentrations of TGF-β1, TGF-β3, PDGF-AB, PLGF, GDNF, ICAM-1, Ang-1, and TNF-α ( P<0.05). Compared to the DRIL-negative subgroup, the DRIL-positive subgroup showed significantly elevated aqueous concentrations of TGF-β3, PDGF-AB, PLGF, GDNF, ICAM-1, Ang-1, Ang-2, TNF-α, and IL-6 ( P<0.05). Significant differences were observed in logMAR BCVA ( P=0.028) and CMT ( P<0.001) within the iERM group between preoperative and 1-month postoperative measurements. LogMAR BCVA differed significantly between the DRIL-positive and DRIL-negative subgroups ( P=0.048). Correlation analysis revealed that baseline aqueous levels of VEGF-A and IL-6 in eyes with DRIL were positively correlated with postoperative BCVA ( r=0.324, 0.452; P=0.042, 0.003). No significant correlation was found between CMT and any cytokine ( P>0.05). Conclusions:Aqueous humor cytokines are closely associated with DRIL in iERM patients. IL-6 and VEGF-A may serve as potential predictive biomarkers for early postoperative visual recovery.

Idiopathic macular epiretinal membrane (iERM) is a kind of fundus disease caused by fibrocellular proliferation over the internal limiting membrane (ILM) followed by deformation and wrinkling of the macula due to traction of the fibrous membranes, leading to vision loss and visual distortion in the affected eye.Optical coherence tomography angiography (OCTA) has been widely used in the diagnosis of macular diseases including iERM by virtue of non-invasive, high resolution and stratified display of superficial and deep retinal vessels and quantification of retinal vessel density and non-perfusion area.OCTA can provide information of retinal microvascular structure and blood perfusion under disease conditions, revealing the pulling effect of iERM on the microvascular structure, and it can also be used to evaluate changes in blood flow during the course of disease follow-up.After surgery, OCTA can also be used for follow-up monitoring of microvascular structure and blood flow to further predict vision.Although OCTA cannot completely replace fundus angiography, it has provided richer information about the pathogenesis, disease progression and prognostic factors of iERM.This article reviews the progress of research on the application of OCTA in iERM to provide more insight into the application of OCTA in iERM.

Objective:To observe the change of retinal artery angle in eyes with idiopathic epiretinal membrane (ERM) and to analyze the relationship between retinal artery angle, ERM classification based on optical coherence tomography (OCT), and visual acuity.Methods:A retrospective cross-sectional clinical study. A total of 187 eyes in 187 patients diagnosed with monocular idiopathic ERM (IERM group) in Department of Ophthalmology of Zhejiang Provincial People's Hospital and the Affiliated Eye Hospital of Wenzhou Medical University at Hangzhou from November 2018 to January 2023 were included in the study. The contralateral healthy eyes were included as the control group. All patients underwent best corrected visual acuity (BCVA), fundus photography, spectral-domain OCT, OCT angiography (OCTA) and axial length (AL) measurement. BCVA examination was performed using the standard logarithmic visual acuity chart, which was converted to the logarithm of the minimum angle of resolution (logMAR) visual acuity. The foveal avascular zone (FAZ) area was measured by OCTA. The central macular thickness (CMT) was measured by spectral domain OCTaccording to the grading criteria of ectopic inner foveal layer (EIFL) was divided into stages 1 to 4 with 42, 45, 62, and 38 eyes, and the IERM group was subdivided into stage 1, stage 2, stage 3, and stage 4 groups accordingly. Image J was used to measure the retinal artery angle and the 1/2 retinal artery angle on fundus images. Multiple linear regression analysis was used to analyze the correlation between BCVA and artery angle, 1/2 artery Angle, CMT, FAZ area and AL.Results:Compared with the control group, eyes in IERM group had worse BCVA ( t=9.727), thicker CMT ( t=12.452), smaller FAZ area ( t=-14.329), smaller artery angle ( t=-9.165) and smaller 1/2 artery angle ( t=-9.549). The differences were statistically significant ( P<0.001). With the increase of IERM stage, the artery angle and 1/2 artery angle decreased significantly ( F=21.763, 12.515; P<0.001). There was no significant difference in artery angle and 1/2 artery angle between stage 1 group and stage 2 group, and 1/2 arterial angle between stage 2 group and stage 3 group ( P>0.05). There were significant differences in artery angle and 1/2 artery angle between the other groups ( P<0.05). There were significant differences in CMT and logMAR BCVA among different classification subgroups in IERM groups ( P<0.05). There was no significant difference in FAZ area between grade 3 group and grade 4 group ( P>0.05). There were significant differences in FAZ area between the other groups ( P<0.05). Correlation analysis showed that decreased artery angle ( P=0.013) and increased CMT ( P<0.001) were associated with decreased BCVA. Conclusions:Compared with healthy eyes, the artery angle decreases significantly with the increase of ERM stage. Decreased retinal artery angle is associated with decreased visual acuity in IERM eyes.

Objective:To compared the changes of macular microvascular architecture in early stage familial exudative vitreoretinopathy (FEVR) patients with inner retinal layer (IRL) persistence and without IRL persistence.Methods:A retrospective clinical study. From 2017 to 2022, 94 patients with stage 1 FEVR with or without IRL residue and 45 age- and sex-matched healthy volunteers with 45 eyes (normal control group) who were confirmed by ophthalmology examination in Hangzhou Hospital of Optometry Affiliated to Wenzhou Medical University and Zhejiang Provincial People's Hospital were included in the study. According to whether there was IRL residue, the patients were divided into IRL group and non-IRL group, with 22 patients (22 eyes) and 72 patients (72 eyes), respectively. Best corrected visual acuity (BCVA) and optical coherence tomography angiography (OCTA) were performed in all eyes. Superficial vessel density (SCP) and deep vessel density (DCP) of whole image, fovea and parafovea, the area and perimeter of fovea avascular area (FAZ), A-circularity index (AI, perimeter/standard circle perimeter with equal area) and vessel density around the 300 μm width of the FAZ (FD), central macular thickness (CMT) on macular 3 mm × 3 mm scan on OCTA were measured.Results:SCP and DCP of whole image ( F=10.774, 4.583) and parafovea ( F=10.433, 3.912), CMT ( F=171.940) in IRL group and non-IRL group on macular 3 mm × 3 mm scan on OCTA were significantly lower than that in normal persons ( P<0.05). There were significant differences among three groups of the area of FAZ ( F=4.315), AI ( F=3.413), FD-300 ( F=13.592) ( P<0.05). BCVA were worst in IRL group ( P<0.05). Conclusions:Blood flow density decreased in macular area of FEVR patients. CMT is significantly thicker than normal population. The FAZ area of the foveal IRL residual eyes is small and irregular, with worse BCVA and lower macular blood density.

Retinopathy of prematurity (ROP) is a major cause of vision loss and blindness among premature infants. Timely screening, diagnosis, and intervention can effectively prevent the deterioration of ROP. However, there are several challenges in ROP diagnosis globally, including high subjectivity, low screening efficiency, regional disparities in screening coverage, and severe shortage of pediatric ophthalmologists. The application of artificial intelligence (AI) as an assistive tool for diagnosis or an automated method for ROP diagnosis can improve the efficiency and objectivity of ROP diagnosis, expand screening coverage, and enable automated screening and quantified diagnostic results. In the global environment that emphasizes the development and application of medical imaging AI, developing more accurate diagnostic networks, exploring more effective AI-assisted diagnosis methods, and enhancing the interpretability of AI-assisted diagnosis, can accelerate the improvement of AI policies of ROP and the implementation of AI products, promoting the development of ROP diagnosis and treatment.

Objective:To investigate the clinical efficacy of neuroendoscopic hematoma removal versus soft channel drainage in the treatment of chronic subdural hematoma. Methods:The clinical data of 102 patients with chronic subdural hematoma who received treatment in Jincheng People's Hospital from May 2018 to May 2020 were retrospectively analyzed. They were divided into the neuroendoscopy group ( n = 50) and the soft channel group ( n = 52) according to different surgical methods. Perioperative indexes, hematoma clearance rate, China Stroke Scale score, the activity of daily living score, and oxidative stress indexes were compared between the two groups. All patients were followed up for 3 months. The incidence of complications during the follow-up period was calculated. Results:The retention time of the drainage tube in the neuroendoscopy group was shorter than that in the soft channel group [(2.45 ± 0.63) days vs. (3.30 ± 0.78) days, t = 6.06, P < 0.001]. The length of hospital stay in the neuroendoscopy group was shorter than that in the soft channel group [(7.14 ± 1.65) days vs. (9.07 ± 2.11) days, t = 5.15, P < 0.001]. The hematoma clearance rate at postoperative 7 days in the neuroendoscopy group was higher than that in the soft channel group [(93.45 ± 5.50)% vs. (81.86 ± 7.24)%, χ2 = 9.12, P < 0.001]. There were no significant differences in operation time and intraoperative blood loss between the two groups (both P > 0.05). At postoperative 30 days, the China Stroke Scale score in the neuroendoscopy group was lower than that in the soft channel group [(12.74 ± 2.23) points vs. (18.67 ± 2.45) points, t = 12.79, P < 0.001]. The activity of daily life score in the neuroendoscopy group was significantly higher than that in the soft channel group [(77.69 ± 7.11) points vs. (91.35 ± 7.25) points, t = 9.60, P < 0.001]. At postoperative 7 days, glutathione peroxidase level in the neuroendoscopy group was significantly lower than that in the soft channel group [(130.75 ± 13.66) U/L vs. (148.60 ± 14.64) U/L, t = 6.37, P < 0.001]. Malondialdehyde level in the neuroendoscopy group was significantly lower than that in the soft channel group [(5.11 ± 0.65) nmol/L vs. (6.19 ± 0.74) nmol/L, t = 7.83, P < 0.001]. Superoxide dismutase level in the neuroendoscopy group was significantly higher than that in the soft channel group [(275.60 ± 22.33) U/L vs. (254.60 ± 18.55) U/L, t = 5.15, P < 0.001]. There was no significant difference in the incidence of complications between the two groups ( P > 0.05). Conclusion:Compared with soft channel drainage, neuroendoscopic hematoma removal can obtain better short-term curative effects and less oxidative stress response in the treatment of chronic subdural hematoma. Neuroendoscopic hematoma removal does not increase the incidence of postoperative complications and is highly safe.

Objective:To evaluate the safety and feasibility of neoadjuvant chemotherapy (NACT) combined with radical surgery for elderly patients with locally advanced gastric cancer (LAGC).Methods:One hundred and fourty eight patients with LAGC after NACT and gastrectomy between 2012 and 2020 were retrospectively reviewed. They were divided into two groups: (1) <65 years old (111 cases) and (2) ≥65 years old (37 cases) and their clinicopathological and prognostic data were compared.Results:There was no significant difference between the two groups in the incidence of hematological complications such as anemia ( χ2=0.235, P=0.628), leukopenia ( χ2=0.613, P=0.434), neutropenia ( χ2=0.011, P=0.918) and thrombocytopenia ( χ2=0.253, P=0.615) and non-hematological complications such as nausea ( χ2=0.092, P=0.762), vomiting ( χ2=0.166, P=0.683), diarrhea ( χ2=0.015, P=0.902) and mucositis ( χ2=0.199, P=0.766) due to NACT. There were no statistical differences between the older patients and the younger in operation duration ( t=0.270, P=0.604), intraoperative bleeding ( t=1.140, P=0.250) and R 0 resection rate ( χ2=0.105, P=0.750). The incidence of postoperative complications was 25.2% and 37.8% in the younger patients and the olders ( χ2=2.172, P=0.141). Pleural effusion ( χ2=7.007, P=0.008) and pulmonary infection ( χ2=10.204, P=0.001) was significantly higher in the older patients than in the youngers. The 3-year progression-free survival rate ( t=0.494, P=0.482) and 3-year overall survival rate ( t=0.013, P=0.908) were comparable between the two groups. Conclusions:NACT combined with radical surgery is safe and effective in elderly patients with LAGC, except for higher perioperative pulmonary-related complications.

China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.