[Clinical analysis of peripheral exudative hemorrhagic chorioretinopathy].

Objective: To evaluate the clinical features and outcomes of eyes with peripheral exudative hemorrhagic chorioretinopathy (PEHCR). Methods: It was a retrospective case series study. A total of 12 patients (12 eyes) diagnosed with PEHCR at Peking University People's Hospital from October 2016 to December 2019 were included. The clinical data of visual acuity, slit-lamp microscopy, indirect ophthalmoscopy, fundus photography, B-ultrasound, optical coherence tomography, fluorescein fundus angiography and indocyanine green angiography, surgical procedures, therapeutic effects and follow-up were analyzed. Results: Among all 12 patients included, 7 were male and 5 were female. The age was (58.0±8.8) years. All patients had unilateral disease. The right eye was involved in 6 cases and the left eye in 6 cases. All cases presented with vitreous hemorrhage, 9 of which presented with intraocular space-occupying lesions. In the patients with intraocular space-occupying lesions, the maximum basal diameter was (8.3±1.6) mm and the height was (3.5±1.2) mm measured by B-ultrasound. A-scan ultrasonography was characterized by intermediate high reflectivity or intermediate low reflectivity. Fundus fluorescence angiography revealed nonspecific alterations corresponding to the visible fundoscopic changes such as window defects, blockage, staining, but no neovascular membrane. No polyps were found on indocyanine green angiography. All patients received vitrectomy. The intraocular lesions were found to be subretinal bleeding and exudative masses intraoperatively. Two patients had combined cataract surgery; three patients received gas or silicone oil tamponade, and three patients received adjunct intravitreal anti-vascular endothelial growth factor drugs during the follow-up. The follow-up period was (30.0±12.6) months. At the last visit, the visual acuity was improved in 11 patients and remained stable in 1 patient. Conclusions: PEHCR is a peripheral hemorrhagic retinal degenerative disorder that simulates choroidal melanoma and lacks characteristic angiography changes. The overall therapeutic effect and prognosis are good.

Nomogram to predict haemorrhagic transformation after stroke thrombolysis: a combined brain imaging and clinical study.

AIM: To construct a novel nomogram by integrating computed tomography perfusion (CTP) and clinical parameters for individualised prediction of haemorrhagic transformation (HT) in intravenous thrombolysis (IVT)-treated acute ischaemic stroke (AIS) patients. METHODS: Anterior circulation AIS patients who underwent IVT at a single centre from January 2018 to June 2020 were reviewed retrospectively. The CTP parameters of two regions of interest (ROI), the entire perfusion lesion areas, and the infract core areas, were assessed. HT was documented by follow-up CT 24 ± 2 h after IVT. Multivariable logistic regression was conducted by including clinical variables and CTP parameters to identify the independent predictors of HT. A nomogram was developed based on the independent predictors. The discriminative value and calibration of the nomogram were tested by concordance indexes (C-indexes) and calibration plots. Internal validation was performed using fivefold cross-validation. RESULTS: The nomogram was generated using the complete data from 341 patients. Seven variables were included in the final nomogram, including: the relative cerebral blood volume (rCBV), permeability surface (PS), and relative PS (rPS) in infract core areas, the relative time to maximum (rTmax) and rPS in entire perfusion lesion areas, the National Institutes of Health Stroke Scale (NIHSS), and atrial fibrillation (AF). The C-indexes were 0.815 and 0.817 for the nomogram and internal validation. The calibration plots showed excellent agreement. CONCLUSION: This is the first study establishing a nomogram based on CTP and clinical parameters to predict HT after stroke thrombolysis.

[Clinical analysis of primary lung tumors in 56 children].

Objective: To investigate the clinical manifestation, pathological type, treatment and prognosis of primary lung tumors in children. Methods: We collected and retrospectively analyzed the clinical manifestation, pathological type, therapeutic method and prognosis of 56 primary lung tumors patients who diagnosed from 2009 to 2019 in Guangzhou Women and Children Medical Center. Results: There were 56 patients identified as the primary lung tumors, including pleuropulmonary blastoma (PPB, n=28), pulmonary inflammatory myofibroblastic tumor(IMT, n=20), mucoepidermoid carcinoma(n=6), infantile hemangioma (n=1), pulmonary sclerosing hermangioma(n=1). Respiratory symptoms were the most manifestation at the time of diagnosis including 26 patients with cough, 3 with hemoptysis, and 17 with dyspnea. Others included 15 with fever, 3 with chest pain, and 2 with epigastiric pain. The primary tumor of 18 cases were located in the lower lobe of left lung, 11 cases in the lower lobe of right lung, 10 cases in the upper lobe of left lung, 7 cases in the upper lobe of right lung, 6 cases in the middle lobe of right lung, and 4 cases in pulmonary hilum. Among the 56 patients, 41 patients underwent thoracotomy, 13 thoracoscopy, and 2 fiberoptic bronchoscopy. Five patients with type Ⅰ PPB were still alive at the end of follow-up without chemotherapy. Among 5 patients with type Ⅱ PPB, 2 patients without chemotherapy died after recurrence, 3 patients suffered postoperative chemotherapy were still alive at the end of follow-up. All of the 18 patients with type Ⅲ PPB underwent postoperative chemotherapy with IVADo regimen. Recurrence occurred in 6 cases, distant metastasis occurred in 3 cases, and cancer-related deaths occurred in 8 cases. For 20 patients with IMT, recurrence occurred in 5 of 13 patients experienced wedge resection, 1 of 6 patients experienced lobectomy and 1 of 6 underwent fiberoptic bronchoscopy, respectively. For 6 mucoepidermoid carcinoma patients, lobectomy was carried on 5 patients, wedge resection on 1 patient, all of them were still alive at the end of follow-up. One hermangioma patient underwent fiberoptic bronchoscopy and other 1 sclerosing hermangioma patient underwent wedge resection, both of them were still alive at the end of follow-up. Conclusions: The clinical manifestations of the primary lung tumors in children are nonspecific. Complete resection and achieving negative marginattribute to the excellent outcome. Adjunctive treatment such as chemotherapy is necessary for patients with type Ⅱ and type Ⅲ PPB.

[Analysis of factors affecting revitrectomy in patients with proliferative diabetic retinopathy].

Objective: To identify prognostic factors for revitrectomy in patients who underwent pars plana vitrectomy (PPV) for complications with proliferative diabetic retinopathy (PDR). Methods: This study was a retrospective case-control study. Clinical data of PDR patients (290 eyes) at Peking University People's Hospital from December 2019 to December 2020 were retrospectively collected.According to the number of operations, patients were divided into two groups: single PPV group (227 eyes) and revitrectomy PPV group (63 eyes). Follow-up will be conducted up to 6 months postoperatively. The BCVA was compared before and after PPV between the two groups, and postoperative complications of revitrectomy PPV group were analyzed. Quantitative data are presented as medians [M (Q1, Q3)]. Results: The age of single PPV group patients was 55.0 (47.0, 63.0), and the age of revitrectomy PPV group patients was 49.0 (38.0, 57.0). This difference was statistically significant (P=0.027). The LogMAR visual acuity of two groups were 1.7 (1.0, 2.4) and 2.1 (1.4, 2.4) (P=0.026) preoperative; the visual acuity of single PPV group was 0.75 (0.43, 1.00) (P<0.001), and revitrectomy PPV group was 0.95 (0.60, 1.65) (P<0.001) at 6 months postoperative. The visual acuity improvement of single PPV group was better than revitrectomy PPV group (P=0.021). Age (P=0.043, OR=0.97, 95%CI: 0.95-1.00), preoperative BCVA (P=0.024, OR=1.82, 95%CI: 1.08-3.05), tractional retinal detachment (TRD) (P=0.033, OR=2.16, 95%CI:1.06-4.37), silicone oil tamponade (P=0.028, OR=0.48, 95%CI: 0.25-0.92) were prognostic factors of revitrectomy. Conclusion: Young age, low preoperative BCVA, TRD, and silicon oil tamponade were the potential prognostic factors of revitrectomy for PDR patients.

[Clinical analysis of Terson syndrome in infants].

Objective: To observe the clinical features, intervention and outcomes of anatomic and visual functions of Terson syndrome in infants, and to explore the appropriate timing for surgery. Methods: This retrospective study included 23 eyes of 14 infants diagnosed with vitreous hemorrhage related to Terson syndrome between May 2008 and March 2021 in Department of Ophthalmology, Peking University People's Hospital. There were 7 males (11 eyes) and 7 females (12 eyes). The age at the initial visit was (4.59±3.96) months. No obvious abnormality was observed in the anterior segment of both eyes of each patient. Data were collected, including demographics, causes of intracranial hemorrhage, characteristics of intraocular hemorrhage, intervention, outcomes of anatomic and visual functions. Results: The causes were craniocerebral trauma in 3 patients, idiopathic cysts in 8 patients, ependymal cyst rupture in 1 patient and respiratory distress in 2 patients. The chief complaint was behavior change in 9 patients, and hemorrhage was found in 5 patients on fundus examination. The rate of complications related to intraocular bleeding was 12/16 when the duration was less than 3 months and 6/7 when the duration was more than 3 months. Twenty eyes (86.96%) were treated by vitrectomy. The follow-up ranged from 6 to 160 months. Three eyes were atrophied, anatomical success was recorded in 18 eyes, and retinal detachment developed in 2 eyes. The visual acuity was improved in 12 eyes (60%), unchanged in 5 eyes (25%), and deteriorated in 3 eyes (15%), except 3 eyes that did not comply with visual acuity examination. Ten eyes showed an obvious myopic shift. Conclusions: The vitreous hemorrhage related to Terson syndrome can occlude the macula and cause severe structural and functional impairments in infants. Vitrectomy is an effective intervention technique, which can quickly remove blood accumulation and restore the anatomical structure, providing better conditions for the visual development of infants.

Using Meglumine Diatrizoate to improve the accuracy of diagnosis of cracked teeth on Cone-beam CT images.

AIM: To explore in a laboratory setting the feasibility of using Meglumine Diatrizoate (MD) to improve the accuracy of diagnosis of cracked teeth on cone-beam CT (CBCT) images. METHODOLOGY: Twenty-four teeth were cracked artificially by soaking them cyclically in liquid nitrogen and hot water. The number and position of crack lines were evaluated with a dental operating microscope and used as the gold standard. The artificially cracked teeth were then examined using routine scanning (RS) and enhanced scanning (ES) modes, respectively. For the ES mode, MD was painted on the surface of the crack lines, and then, CBCT scanning with the same parameters was performed after 10 min. A radiological graduate student and an experienced radiologist evaluated the presence or absence of crack lines, respectively. The differences between the RS and ES modes were determined and assessed using McNemar's test. Inter-examiner agreement and intra-examiner agreement were assessed using kappa analysis. RESULTS: Fifty-seven crack lines were found in the 24 cracked teeth. In the RS mode, the accuracy of detection of crack lines was 23% (radiological graduate student) and 32% (experienced radiologist), whereas in the ES mode, the accuracy was 61% (radiological graduate student) and 65% (experienced radiologist). The inter-examiner agreement was 0.693 in RS mode and 0.849 in ES mode. The intra-examiner agreement was 0.872 and 0.949 for the radiological graduate student in RS and ES mode respectively; and one for the experienced radiologist both in RS and ES mode. CONCLUSIONS: Compared with routine scanning mode, more crack lines could be detected in enhanced scanning mode using Meglumine Diatrizoate as a contrast medium. MD could be a potential contrast medium to improve the accuracy of detection of crack lines on CBCT images.

[Clinicopathologic features and prognosis of 28 cases of pleuralpulmonary blastoma in children].

Objective: To explore the clinical characteristics, therapeutic methods and prognosis of pleuropulmonary blastoma in children. Methods: The clinical data of 28 patients with pleuropulmonary blastoma diagnosed in Guangzhou Women and Children's Medical Centre from November 2008 to May 2018 were collected and retrospectively analyzed. Results: Of the 28 patients, 18 were male and 10 were female, aged from 22 days to 5 years 10 month, the average age was 2 years 6 months. One patient underwent biopsy and other 27 underwent operation, 14 patients with type Ⅱ/Ⅲ pleuropulmonary blastoma received postoperative chemotherapy. Five patients were pathologically diagnosed as typeⅠpleuropulmonary blastoma, 5 were type Ⅱ pleuropulmonary blastoma and 18 were type Ⅲ pleuropulmonary blastoma. During the follow-up period of 24 patients, 15 patients were disease free survival, 3 patients relapsed within 6 months, 10 months and 18 months after chemotherapy, respectively. One patient who received postoperative chemotherapy suffered a bone metastasis within 11 months, 2 patient without chemotherapy relapsed within 2 months and suffered bone or renal metastasis within 3 months, respectively. Three patients who left hospital voluntarily died within 1 month. Conclusions: Pleuropulmonary blastoma is a highly malignant and rapidly progressed neoplasm. Patients with type Ⅰ pleuropulmonary blastoma have good prognoses while the prognoses of Ⅱ/Ⅲ pleuropulmonary blastoma are poor. Postoperative chemotherapy seems to improve the survival of patients withⅡ/Ⅲ pleuropulmonary blastoma.

[Treatment of vasoproliferative tumors of the retina].

Objective: To evaluate the treatment of vasoproliferative tumors of the retina (VPTR). Methods: Retrospective case series study. The clinical data of 20 VPTR patients (20 eyes) were retrospectively analyzed, including 2 eyes only treated by cryotherapy, 1 eye only treated by photocoagulation and 1 eye only treated by ruthenium-106 brachytherapy. The remaining 16 eyes had combined treatment of ruthenium-106 brachytherapy, photodynamic therapy, anti-VEGF therapy, photocoagulation and cryotherapy. Nine eyes were also treated by vitrectomy because of complications such as retinal detachment and vitreous hemorrhage. Results: Single or multiple yellow white or orange red, highly vascular tumor lesions were found in ocular fundi of the 20 eyes. All eyes were accompanied by complications, including intraretinal and subretinal exudations (100%), macular edema (n=19, 95%), epiretinal membrane (n=4, 20%), retinal detachment (n=8, 40%), vitreous hemorrhage (n=6, 30%), abnormal blood vessels (n=16, 80%) and proliferative membrane (n=7, 35%). In the follow-up, the tumor in the eye treated by ruthenium-106 brachytherapy alone was atrophied and the vision improved. Regarding the 2 eyes treated by cryotherapy alone, macular edema and abnormal blood vessels decreased and visual acuity improved in 1 eye, and visual acuity did not change significantly in another eye. More leakages and increased visual acuity were found in the eye treated by photocoagulation alone. Among the 16 eyes treated with combined therapy, 9 eyes had decreased complications and improved visual acuity, 3 eyes did not change significantly, and 2 eyes had increased complications and decreased visual acuity. Conclusions: The conditions of VPTR are complex and difficult to treat. According to the specific conditions, clinicians should choose appropriate treatment methods; different treatment methods can be combined. Laser photocoagulation and cryotherapy may be chosen to treat small tumors complicated with abnormal blood vessels. Ruthenium-106 brachytherapy could treat big tumors complicated with exudative retinal detachment. Vitreous surgery can be used in hemorrhage and tractional retinal detachment. Anti-VEGF therapy is effective in the treatment of macular edema. (Chin J Ophthalmol, 2020, 56:272-278).

[Evaluation the risk of optic nerve invasion associated with optic nerve obscuration in advanced retinoblastoma].

Objective: To evaluate the potential association between optic nerve invasion and optic nerve obscuration during treatment of advanced retinoblastoma. Methods: Retrospective case series study. Medical records of 77 patients (77 eyes) with advanced retinoblastoma (Group D/E) who were treated with primary or secondary enucleation in the Ophthalmology Department of Peking University People's Hospital from January 1st 2012 to December 31th 2015 were retrospectively reviewed. RetCam photographs under general anesthesia at diagnosis and each subsequent follow-up were evaluated for complete obscuration of the optic nerve. The primary endpoints included prelaminar invasion, postlaminar invasion and optic nerve transection invasion. Group difference was calculated with chi-square. Results: There were 46 boys and 31 girls in the study. The mean age at the first diagnosis was (27.1±22.1) months. The optic nerve was obscured in 62 eyes (80.5%) at the first diagnosis and 61 eyes (79.2%) at the last ocular examination prior to enucleation. Twenty-nine eyes (37.7%) underwent primary enucleation. Forty-eight eyes (62.3%) were treated with eye-preserving therapy, followed by enucleation. Fourteen eyes (18.2%) were in Group D and 63 eyes (81.8%) were in Group E. Histopathologic analysis of enucleated eyes without optic nerve obscuration (16 eyes) showed prelaminar invasion in 7 eyes, postlaminar invasion in 2 eyes and optic nerve transection invasion in 0 eyes. Histopathologic analysis of enucleated eyes with optic nerve obscuration (61 eyes) showed prelaminar invasion in 26 eyes, postlaminar invasion in 9 eyes and optic nerve transection invasion in 4 eyes. The difference between two groups did not achieve statistical significance (P=0.935, 1.000, 0.296). Histopathologic analysis of enucleated eyes with persistent complete obscuration of the optic nerve showed a high risk factor in 10 eyes (10/40), while in 1 eye (1/8) the optic nerve was visible at the initial presentation and obscured before secondary enucleation (P=0.529). Conclusion: Optic nerve obscuration at the last examination prior to enucleation may not be associated with postlaminar optic nerve invasion in advanced retinoblastoma. (Chin J Ophthalmol, 2020, 56: 681-687).

[Prognostic value of pretreatment (18)F-FDG PET-CT metabolic parameters in patients with advanced extranodal NK/T cell lymphoma].

Objective: To investigate the prognostic values of the maximum standardized uptake value (SUV(max)), metabolic tumor volume (MTV) and total lesion glycolysis (TLG) calculated from pretreatment (18)F-fluorodeoxy glucose ((18)F-FDG) PET-CT results of patients with advanced extranodal NK/T cell lymphoma (ENKTL). Methods: The clinic data, follow-up data and pretreatment (18)F-FDG PET-CT data of 45 patients with ENKTL of stage Ⅳ were collected. The optimal cutoff value of progression-free survival (PFS) of SUV(max), MTV and TLG were analyzed by using receiver-operating characteristic (ROC) curve. The Kaplan-Meier method, Log-rank test and COX proportional hazards model were used for survival analysis, univariate analysis and multivariate analysis, respectively. Results: The median SUV(max), MTV and TLG of 45 ENKTL patients were 17.98, 70.18 and 755.42, respectively. ROC curve showed that the area under the curve (AUC) of SUV(max), MTV and TLG were 0.504 (P=0.970), 0.868 (P<0.001) and 0.848 (P=0.001), respectively. The value of SUV(max) was too small to fit for calculating the cutoff value of AUC. The cutoff value of MTV was 42.54 (sensitivity =78.1% and specificity =84.6%), and the cutoff value of TLG was 435.15 (sensitivity=75.0% and specificity =76.9%). Univariate analysis showed that lactate dehydrogenase (LDH) level, epstein-barr virus (EBV)-DNA, Eastern Cooperative Oncology Group (ECOG) score, bone marrow, Korean prognostic index (KPI), MTV, TLG were significantly related with PFS (all P<0.05), and lactate dehydrogenase (LDH) level, EBV-DNA, ECOG score, primary tumor location, KPI, MTV, TLG were significantly related with overall survival (OS) (all P<0.05). Multivariate analysis showed that KPI, MTV and TLG were independent prognostic predictors of PFS and OS (all P<0.05). Conclusions: MTV and TLG of pretreatment (18)F-FDG PET-CT are independent prognostic factors for PFS and OS of patients with advanced ENKTL. MTV and TLG may be more fit for evaluating the prognosis of ENKTL patients than SUV(max).

[Be cautious to treat retinopathy of prematurity with anti-vascular endothelial growth factor pharmacotherapy].

With the rapid development of perinatology in China and the implementation of the two-child policy, the survival rate of premature and low weight infants is obviously improved, and the incidence of retinopathy of prematurity (ROP) in preterm infants has been increasing year by year. ROP can lead to blindness when it is serious. It is the first cause of blindness of children in our country, and it is a heavy burden on family and society. With novel insights in the pathogenesis of the disease, anti-vascular endothelial growth factor pharmacotherapy has blated its way into ophthalmological practice and significantly changed the management of ROP. However, facing such promising drugs, we still need to take caution with the safety and long-time efficacy, investigate more reasonable dosing schedules and study the follow-up time. (Chin J Ophthalmol, 2019, 55: 246-249).

[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor].

Objective: To investigate the treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor. Methods: Retrospective study of 5 patients(8 eyes) diagnosed retinopathy of incontinentia pigmenti from 2005 to 2017, including 0 males and 5 females (8 eyes involved) with an average age of 2.4 months(range, 1-5 months). Medical history and family history were recorded in detail for all children. We did the examination of anterior segment of the eyeball, vitreous body,fundus and intraocular pressure for the 5 patients(8eyes).What's more,wo also took pictures for fundus with the machine of Retcam. Fundus fluorescence angiography (FFA) was performed in 2 patients(4 eyes). Different surgical methods were selected according to the specific conditions of the eye and postoperative were observed. Results: At the time of initial diagnosis, preretinal hemorrhage did not affect the macular region in 3 cases (5 eyes), pre retinal hemorrhage affected the macular region in 1 case(1 eye), the retinal neovascularization in 3 cases(5 eyes), the retinal detachment in 2 cases(2 eyes), and nonvascular zone of peripheral retinal in 5cases(8 eyes). Treatment and drug selection: 3 cases(5 eyes) were treated with injection anti-VEGF drug into vitreous body cavity, 1 case(1 eye) was treated with injection anti-VEGF drug into vitreous body cavity plus laser photocoagulation, 1 case(1 eye) was treated with anti-VEGF drugs plus vitrectomy. 1 case(1 eye) was treated with anti-VEGF drugs plus retinal cryotherapy and sclera bucking. In patients of injection anti-VEGF drug into vitreous body cavity, 2 cases(3 eyes) were given a single dose and 1 case (2 eyes) was given a repeated dose. Drug selection: 4 cases(6 eyes) ranibizumab injection (injection dose 0.025 ml), 1 case (2 eyes)conbercept injection (injection dose 0.025 ml). To follow-up date, etina was flat in 4 patients (7 eyes), epiretinal membrane in 2 patients(2 eyes), retinal detachment in 1 patient(1 eye). Conclusions: The efficacy of anti-vascular endothelial growth factor in the treatment of retinopathy of incontinentia pigmenti was prelininarily confimed.However,the optimal use timing,dosage,local and systemic safety issues were needed to be further studied. (Chin J Ophthalmol, 2019, 55:294-301).

[Clinical analysis of juxtapapillary retinal capillary hemangioma].

Objective: To discuss the clinical features and treatment of juxtapapillary retinal capillary hemangioma (JRCH). Methods: Retrospective study of the clinical data of 6 patients (7 eyes) who were diagnosed with JRCH, among which 2 eyes were treated by laser therapy (thermotherapy TTT or photodynamic therapy PDT), 2 eyes were treated by intravitreal anti-VEGF injection, 2 eyes with vitreous hemorrhage were treated with vitrectomy (PPV)+ anti-VEGF, and 1 eye was untreated. Results: In the 6 cases, the gender ratio of male to female is 2∶1 with average age of 46 years. Four eyes were associated with macular edema(57.1%), vitreous hemorrhage(n=2, 28.6%), and epiretinal membrane(n=1, 14.2%) in the initial examination. Three patients were associated with von Hippel-Lindau(VHL). During the follow-up period, the visual acuity of the 2 patients treated by TTT decreased. Among the 2 eyes treated by anti-VEGF, the visual acuity of 1 eye associated with macular edema increased, and the visual acuity of 1 eye with macular epiretinal membrane did not change significantly, the visual acuity of both 2 eyes treated by PPV+anti-VEGF improved, the vision of the 1 eye untreated appeared to be stable. Conclusions: Juxtapapillary retinal capillary hemangioma is the orange or red vascular hamartomas that occur on or adjacent to the optic nerve head. It is often associated with macular edema, vitreous hemorrhage, and local subretinal effusion. Symptomatic treatment of complications can effectively improve the visual acuity of patients, while long-term follow-up observation should be organized for patients without complications, laser treatment appears to be ineffective. (Chin J Ophthalmol, 2019, 55:609-615).

[Promoting regulated gene diagnosis for retinoblastoma in clinical work].

Retinoblastoma, the most frequent malignant intraocular tumor in childhood, is caused by oncogenic mutations in the RB1 tumor suppressor gene. Identification of these mutations in patients is important for genetic counseling and clinical management of relatives at risk, and thus probands are conventionally applied gene detection in developed countries. However, gene diagnosis is still in the elementary period in China. This article reviews the characteristics of retinoblastoma genetics and the current status of genetic testing in China, so as to attract more attention from ophthalmologists and to promote regulated gene diagnosis in clinical work. Not only does good understanding of retinoblastoma genetics support optimal care for retinoblastoma children and their families, but also promotes the development in foundational research. (Chin J Ophthalmol, 2019, 55: 806-810).

Understanding the electronic and phonon transport properties of a thermoelectric material BiCuSeO: a first-principles study.

Using the first-principles pseudopotential method and Boltzmann transport theory, we give a comprehensive understanding of the electronic and phonon transport properties of the thermoelectric material BiCuSeO. By choosing an appropriate hybrid functional for the exchange-correlation energy, we find that the system is a semiconductor with a direct band gap of ∼0.8 eV, which is quite different from those obtained previously using standard functionals. Detailed analysis of a three-dimensional energy band structure indicates that there is a valley degeneracy of eight around the valence band maximum, which leads to a sharp density of states and is responsible for a large p-type Seebeck coefficient. Moreover, we find that the density of states effective mass is much larger and results in a very low hole mobility for BiCuSeO. On the other hand, we discover two flat phonon branches contributed by the Cu and Se atoms, which can effectively block heat transfer. Combined with large atomic displacement parameters of the Cu atom, we believe that the intrinsically low lattice thermal conductivity in BiCuSeO is mainly caused by the Cu atoms, instead of the prevailingly believed Bi atoms. The thermoelectric figure-of-merit is also predicted and compared with available experimental results.

[Clinical characteristics, diagnosis and treatment of pulmonary inflammatory myofibroblastic tumor in children].

Objective: To explore the clinical characteristics, diagnosis and treatment of pulmonary inflammatory myofibroblastic tumor in children. Methods: The clinical data of 13 patients with pulmonary inflammatory myofibroblastic tumor between October 2009 and October 2015 were retrospectively analyzed, including 9 boys and 4 girls aged 1 to 12 years 4 months (mean 4 years 9 months). Seven patients underwent total tumor resection, 4 had lobectomy, 1 had partial tumor resection and 1 had biopsy. The follow-up time ranged from 2 months to 6 years and 2 months. Results: Among the 13 patients, 9 were cured. Two patients lived with tumor. One of them had tumor which shrinked gradually and the other had stable disease. One patient with multiple lesions encountered recurrence after 3 operations and developed suspicious hepatic metastasis. One died during the operation because of airway mismanagement. Conclusions: Pulmonary inflammatory myofibroblastic tumor in children has rather good prognosis while a few cases have the potential of recurrence and canceration. Surgery is the primary therapeutic approach. Close post-operative follow up is necessary.

[Application of gene capture technology on mutation screening of RB1 gene in retinoblastoma patients].

Objectives: To analyze RB1 gene mutation in retinoblastoma (RB) patients using gene capture technology. Methods: Experimental research. The clinical data of 17 RB patients were collected at Department of Ophthalmology, Peking University People's Hospital from June 2010 to Jun 2014. Peripheral blood samples of seventeen RB patients and their parents were collected and genomic DNA were extracted. DNA library from RB patients was mixed with designed gene capture probe of RB1 exons and its flanking sequences. The data were analyzed using bioinformatics software. To avoid the false positive, the abnormal sites were verified using the Sanger sequencing method. Results: Totally, there were 17 RB patients, including 12 males and 5 females, from 0.5 to 23 years old, average ages were (3.2±5.2) years old. Both eyes were involved in 6 patients. The other 11 cases were only one eye was attacked. Four RB patients were found to have germline mutations, among whom 2 had bilateral tumors and 2 had unilateral tumors. 2 novel missense mutations were identified, including 15(th) exon c.1408A>T (p. Ile470Phe) and c.1960G>C (p. Val654Leu) at 19(th) exon. No RB1 mutation was identified in any of their parents. We also identified 2 mutations reported previously. One is c.1030C>T termination mutation at 10(th) exon in a bilateral RB patients and his father, who was diagnosed with unilateral RB. The other is c.371-372delTA frame shift mutation at 3(rd) exon. No mutation was found in their parents. Conclusions: Two novel germline RB1 mutations were found using gene capture technology, which enriched RB1 mutations library.(Chin J Ophthalmol, 2017, 53: 455-459).

High thermoelectric performance of the distorted bismuth(110) layer.

The thermoelectric properties of the distorted bismuth(110) layer are investigated using first-principles calculations combined with the Boltzmann transport equation for both electrons and phonons. To accurately predict the electronic and transport properties, the quasiparticle corrections with the GW approximation of many-body effects have been explicitly included. It is found that a maximum ZT value of 6.4 can be achieved for n-type systems, which essentially stemmed from the weak scattering of electrons. Moreover, we demonstrate that the distorted Bi layer retains high ZT values in relatively broad regions of both temperature and carrier concentration. Our theoretical work emphasizes that the deformation potential constant characterizing the electron-phonon scattering strength is an important paradigm for searching high thermoelectric performance materials.

Bone morphogenetic protein 9 facilitates osteocarcinoma cell apoptosis and inhibits in vivo tumor growth.

Osteosarcoma (OS) causes millions of death worldwide and, since there is no effective therapy, it is necessary to identify the molecular mechanism of OS, which can direct the development of new therapies. This study investigated the role of bone morphogenetic protein 9 (BMP9), a member of the transforming growth factor (TGF)-ß family, in OS development. This study first examined BMP9 expression in tissue from OS patients and normal subjects. The OS cell line (MG63) and tumor cells from OS patients were then transfected with BMP9 and cell proliferation and apoptosis were assessed. Western blot and reverse transcription-polymerase chain reaction were used to study the expression of cancer-related genes [B cell lymphoma (Bcl)-2, cleaved Caspase-3, Caspase-9, and poly ADP-ribose polymerase]. To confirm the in vivo impact of BMP9, mice were transplanted with OS tumor cells and then treated with BMP9 carried in attenuated Salmonella enterica serovar Typhimurium. Our study found that the OS tumor tissue had a lower expression of BMP9 compared to normal tissue. Transfection of BMP9 in OS and MG63 cells inhibited cell growth and promoted apoptosis. In vitro studies showed a decrease in Bcl-2 gene expression and an increase in Cyto-c, Caspase-3, and Caspase-9 expression. In vivo studies indicated that consistent treatment with BMP9 in OS mice results in inhibition of tumor growth. This study shows that BMP9 inhibition is associated with OS development and that enhanced expression of BMP9 may be a potential treatment method for OS.