Volume 89  ·   Issue 44  ·  2009

Gaucher disease is a kind of lysosomal storage disease, which is mainly caused by the lack of acid glucocerebrosidase in lysosomes, which leads to the storage of its unmetabolized substrate glucocerebroside in monocytes and/or macrophages, mainly affecting the spleen, liver and bone marrow.

Gastric cancer is a disease that seriously endangers human health. China is a high incidence area of gastric cancer. Every year, the new cases of gastric cancer account for more than 17% of all malignant tumors, and the mortality rate accounts for more than 20% of all malignant tumors [1]. The treatment effect of early gastric cancer is satisfactory, and the 5-year survival rate is 95% ~100%. However, most gastric cancers have entered the advanced stage when detected, and the prognosis is poor, and the 5-year survival rate is only 30% ~40%.

Objective To investigate the expression of protease activated receptor-2 (PAR-2) in human HepG2 hepatoma cells and elucidate the effects of trypsin and PAR-2 agonist peptide SLIGKV-NH_2 upon the proliferation of hepatoma cells and its intracellular signaling mechanism. Methods PAR-2 protein and mRNA expression were detected by immunofluorescence and RT-PCR. The cells were treated with SLIGKV-NH_2, trypsin, reverse PAR-2 agonist peptide VKGILS-NH_2 or PD98059. The changes of cell cycle distribution were evaluated by flow cytometry. The proliferative potential of HepG2 cells was estimated by MTT. The changes of PAR-2, c-fos and PCNA mRNA expression were detected by RT-PCR. The changes of c-fos and PCNA protein expression were detected by Western blotting. Results PAR-2 protein and mRNA were expressed in HepG2 cells. PAR-2 mRNA expression (PAR-2/β-actin) were 0.70±0.04 and 0.99± 0.05 respectively in cells treated with trypsin and SLIGKV-NH_2. They were both significantly higher than that in the control group (0.35±0.05, F=135.534, P<0.01). Percent G_0/G_1 phase of HepG2 cells treated with trypsin or SLIGKV-NH_2 were significantly lower than those in the control group [(56.11± 0.85)%、(57.85±0.46)% vs (79.12±0.67)%, both P<0.01] Percent S phase, G_2/M phase and proliferation index (PI) of HepG2 cells treated with trypsin or SLIGKV-NH_2 were significantly elevated(P < 0.01). The proliferation-enhancing effects and the up-regulatian of mRNA and protein of c-fos and PCNA induced by trypsin or SLIGKV-NH_2 were significantly blocked by pretreatment with PD98059 (P<0.01). There was no statistical significance in proliferation of HepG2 cells between the reverse PAR-2 agonist peptide VKGILS-NH_2 and control group (P > 0.05). Conclusion PAR-2 is expressed in HepG2 hepatoma cells. PAR-2 activation induced by trypsin or SLIGKV-NH_2 promotes the proliferation of HepG2 cells partially via the ERK/AP-1 pathway.

Objective To investigate the expression of Abl-interacting protein 1 (ABI1) in normal gastric mucosal cell line GES-1 and gastric cancer cell line AGS, and the effects of ABI1 gene overexpression upon the proliferation of human gastric cancer cell AGS in vitro. Methods Firstly the ABI1 expression in GES-1 and AGS cells were identified by immunohistochemistry, immunofluorescene, RT-PCR, real-time PCR and Western blot. Secondly human gastric cancer cell line AGS was cultured and transfected with recombinant MSCV-GFP-ABI1 plasmid or blank plasmid MSCV-GPF. Real-time PCR and Western blot were used to detect the mRNA and protein expression of ABI1. And lastly the cell proliferation was detected by CCK-8 assay. Results ABI1 was expressed both in normal gastric mucosal cell line GES-1 and in gastric cancer cell line AGS. Compared to GES-1 cells, the ABI1 expression in AGS cells was lowered significantly. There were no significant differences in the ABI1 mRNA and protein expression between the AGS and AGS-MSCV-GFP groups. Compared to those of the AGS group, the ABI1 mRNA expression levels of the AGS-MSCV-GFP-ABI1 group increased by 1.87 times (P = 0.002). The protein expression levels of the AGS-MSCV-GFP-ABI1 group were remarkably higher than those of the AGS and AGS-MSCV-GFP groups (P = 0.002). CCK-8 assay showed that there were no significant differences in the proliferation rates at different time points between the AGS and AGS-MSCV-GFP groups. However, the proliferation rates at the time points of 24, 48, 72 and 96 hours of the AGS-MSCV-GFP-ABI1 were 1.46±0.31, 4.75±0.12, 6.62±0.32 and 8.96±0.27 respectively. And they were significantly lower than the proliferation rates of the AGS and AGS-MSCV-GFP groups (P < 0.01). Conclusion ABI1 gene is down-regulated in gastric cancer cells. The ABI1 overexpression effectively inhibits the proliferation in human gastric cancer cell lines. It suggests that ABI1 may be involved in gastric cancer pathogenesis by regulating the proliferation of gastric carcinomas cells.

：Objective To study theinfluence of inhibiting Delta-like ligand 4 (Dll4)/Notch signal transduction pathway uponthe biological behavior of human umbilical vein endothelial cells (HUVEC). Methods UsedrAAV vectors expressing an active small interfering RNA (siRNA) (vector 6) targeting theDll4 (rAAV-Dll4-shRNA) to infect HUVEC. And an empty plasmid (rAAV-EGFP) was infected intothe same cell line as control group. The stable transfection and expression of Dll4 mRNAin HUVEC were determined by semi-quantitative RT-PCR. The protein expression of Dll4 wasexamined by Western blotting. Distribution of cell cycle was assessed by flow cytometry.The cell growth was analyzed by MTT assay. HUVEC were separated by type Ⅰ collagen and cultured in athree-dimensional culture system for tubule like structure (TLS) formation. ResultsCompared with the negative control cells, semi-quantitative RT-PCR and Western blottingshowed the expression of Dll4 mRNA (0.636±0.082, 0.972±0.022 vs 0.948± 0.046) andprotein (0.632±0.052, 2.016±0.048 vs 1.946±0.066) were down-regulated in the stablecell (P=0.024, 0.033). The rAAV vectors expressing an active small interfering RNA (siRNA)targeting the Dll4 effectively stimulated HUVEC cell growth and proliferation while emptyplasmid had no such specific effect. The proliferation index of experimental group was(39.9±2.2) % versus untreated group (25.7± 4. 5)% (P=0.036). TLS formation wassignificantly induced by rAAV vector. And the average length of TIN were more than thoseof control group (12.5±0.5, 8.7±7.7, 8.5±3.0, P=0.028). Conclusion The inhibitingDll4/Notch signal transduction pathway stimulates the proliferation of HUVEC andfacilitates the angiogenesis. Interference with Dll4/Notch signaling may be particularlydesirable in tumors with highly induced Dll4/Notch pathway.

Objective To explore the potential mechanism of trichloroethylene (TCE) -induced apoptosis in normal human epidermis keratinocyte (NHEK) by assaying the Caspase activities, mitochondrial membrane potential (△Ψm) and apoptosis in vitro. Methods NHEK was exposed to TCE and Caspases-3, 8 and 9 activities were determined using a commercial assay kit. Apoptosis and △Ψm were detected by flow cytometry (FCM) after double-stained with annexin-V and PI, Rh123 and PI respectively. NHEK was pretreated with inhibitor of Caspase-3 or 9 to verify the activation of Caspases by TCE treatment. Results Various dose of TCE exposure could increase the Caspases-3 and 9 activities in dose- and time-dependent way. There was marked difference between TCE-treated group and control at 12 or 24 h. But no significant influence of Caspase-8 activity was evoked. 0.125, 0.25, 0.5, 1.0 and 2.0 mmol/L TCE treated NHEK 4 h then cultured for 12 h. Annexin-V~+/PI~- proportion were (20.1±4.1) %, (30.0± 7.5) %, (42.1±8.2) %, (56.0±6.1) % and (79.1±4.3) % respectively. There was marked difference between TCE-treated group except for 0.125 mmol/L and control (9.4±3.0) % (all P < 0.05 ). FITC~+/ PI~- proportion were marked positive correlation with Caspase-3 and 9 activities, r =0.786, 0.736(both P < 0.05). Caspase-3 activities had also a marked positive correlation with Caspase-9 activities, r=0.845 (P < 0.05). There was no correlation with Caspase-8 activities. Pretreatment for 1 h with 100 μmol/L Z-DEVD-annexin-V~+/PI~- proportion decreased from (80.0±5.5)% to (16.3±3.2)% in 2.0 mmol/L TCE treated NHEK with a significant difference (P < 0.01), but there was no change of Caspase-9 activities. 100 treatment with 2.0 mmol/L TCE. Rhod123 fluorescence intensity (FI) were respectively with a marked decrease as compared with 0 h(18.7±0.5, all P < 0.01). At 0.125, 0.5 and 2.0 mmol/L TCE treated NHEK for 4 h then cultured 8 h, Rh123 FI were 16.1±0.5, 12.1±0.6 and 8.1±0.6 with a marked decrease as compared with control(18.1±0.5, all P < 0.01). Conclusion TCE-induced NHEK apoptosis is mediated intrinsically through the mitochondrial pathway of the decrease of ΔΨm and the Caspase-9 dependent activation of Caspase-3.

Objective To determine the predictors of thrombosis in left atrium (LA) or left atrial appendage (LAA) in patients with nonvalvular atrial fibrillation. Methods Two hundred and eight patients under 65 year old with atrial fibrillation (AF) were included and all of them received examination of transesophageal echocardiography (TEE). Thrombus formation in LA/LAA was found in 23 patients (thrombus group) but absent in the remaining 185 patients (nonthrombus group). All patients were analyzed by univariate regression and binary logistic regression to investigate the relationship between the occurrence of LA/LAA thrombosis and these factors (such as case history, smoking/drinking preference, indicators of clinical blood examination and ultrasound imaging study, etc) Results Univariate analysis revealed that diameter of LA [(34.9±4.4) mm vs (42.2±6.5) mm, P=0.000], ratio of chest and heart (60/185 vs 20/23 P=0.000), brain infarction/transient ischemic attack (TAI) (7/185 vs 6/23 P = 0.000), smoking (30/185 vs 8/23, P=0.030), fibrinogen (FIB) [(3.0±0.7) g/L vs (3.5±1.0) g/L, P=0.000], coronary artery disease (CAD) (10/185 vs 6/23, P=0.000) and LVDd[(45.7±4.1) nun vs (48.5±5.7)mm, P=0.000] and LVEF[(65.1±6.6)mm vs (59.3±1.3)mm, P=0.050]were significant between nonthrombus group and thrombus group (P < 0.05). However binary logistic regression analysis identified that only LAD, ratio of chest and heart, brain infarction/TAI and FIB were the significant and independent predictors of LA/LAA thrombosis. Conclusion Diameter of LA, ratio of chest and heart, brain infarction/TAI and FIB are independent risk factors of thrombosis in patients under 65 year old with nonvalvular atrial fibrillation. These patients need a better anticoagulation.

Objective To evaluate the short-term efficacy and safety of propranolol in the treatment of infantile hemangiomas. Methods Between October 2008 and May 2009, oral propranolol was applied to 58 infants with heamngiomas at a dose of 1.0 - 1.5 mg per kilogram of body weight per day in Linyi, Shandong and Shanghai. There were 19 males and 39 females 1 to 12 months old with a mean age of 4 months. The primary tumor size was 1.5 cm × 1.0 cm to 18.0 cm × 5.0 cm. Twenty-seven were superficial, nine deep-seated and 22 mixed. The tumors were located in head and neck (n=41), trunk and extremities (n = 12), labium vulvae (n = 2),perianal region (n = 1), perineum (n = 1) and scrotum (n = 1). The patients were hospitalized for 7 to 10 days, continued medication at home and revisited every 2 weeks. The changes of tumor size, texture and color were monitored and recorded at a regular interval. The adverse effects after medication were observed and managed accordingly. The short-term results were evaluated using a 4-point scale system. Results At 24 hours post-medication, all the tumors decreased in density, color and size. The changes became conspicuous within 5 to 7 days. Seven patients had medication for 2 months, 22 for 3 months, 21 for 4 months and 8 for 5 months. The follow-up period was 5 to 9 months. The overall response was scale Ⅰ (poor) in 1 patient (1.7%), scale Ⅱ (moderate) in 12 patients (20.7%), scale Ⅲ (good) in 35 patients (60.4%) and scale Ⅳ (excellent) in 10 patients (17.2%). Statistical analysis showed that the treatment response for deep-seated hemangiomas was significantly better than that for superficial hemangiomas (P<0.05), but no significant difference was found among different primary sites (P>0.05). The main adverse effects were bradycardia (100%), diarrhea (63.8%) and sleep change (30.2%), which resolved after expectant treatment without any significant sequel. No serious adverse effect was observed. Conclusions Oral propranolol treatment at a low dose is a safe and effective regimen for infantile proliferating hemangiomas. And it can be used as the first-line therapeutic modality. The short-term efficacy is excellent while the side effects are minimal.

Objective To examine the effect of postoperative pregnancy upon the prognosis of young Chinese breast cancer patients. Methods Four hundred and thirty-two female unilateral breast cancer patients aged 35 or younger were retrospectively reviewed. Kaplan-Meier analysis and Log Rank test were used for univariate analysis of factors predictive of disease-free survival (DFS) and overall survival (OS). Multivariate analysis was carried out using the Cox proportional hazards model. Results Eighteen patients were identified to have postoperative pregnancy, including 5 full-term pregnancy and 13 abortions with the earliest pregnancy taking place at Month 17 post-operation. After a median follow-up of 62 months (6-237 months), the DFS and OS rates were 72. 5% (313/432) and 88. 7% (383/432) respectively. On multivariate analysis, postoperative pregnancy, clinical stage and number of pathologically involved axillary lymph node were significantly associated with DFS. And the axillary lymph node status was also predictive of OS. No death occurred in patient with postoperative pregnancy. There was no significant association between postoperative pregnancy and OS. Conclusion Postoperative pregnancy has no adverse effect upon the prognosis of young breast cancer patients.

Objective To investigate the association between genetic polymorphism of UGT1A7 and susceptibility of bladder cancer. Methods Based upon a case-control study, UGT1 A7 polymorphisms were determined by the semi-nested polyrnerase chain reaction (SN-PCR) and allele-specific polymerase chain reaction (AS-PCR) in 208 cases with bladder cancer and 205 non-tumor controls. Risks were evaluated by unconditional logistic regression analysis. Results The frequency of variant homozygous genotype in cases (20.7%) was higher than that in controls (12.2%) and the difference was statistically significant [P < 0.05, OR = 2.16 (1.18-3.96)]. The frequency of variant allele ~*3 in cases was higher than that in controls (27.9%, 20.5% respectively) and the difference was statistically significant [P=0.009, OR = 1.56 (95% CI: 1.12-2.18)]. The smokers with variant homozygous and heterozygous genotypes showed an increased risk of bladder cancer compared with those with wild genotype [2.16 (95% CI: 1.07-4.36), 2.64 (95% CI: 1.02-6.80) respectively]. There was no association between the UGT1A7 polymorphisms and the pathological grade and clinical stage of bladder cancer (both P > 0.05). Conclusion The genetic polymorphisms of UGT1 A7 are associated with the susceptibility of bladder cancer and have interactions with smoking in bladder carcinogenesis.

Objective To investigate the effects of high mobility group box-1 (HMGB1) silencing upon the invasion and proliferation in human lung cancer cell L9981 by RNA inhibition. Methods L9981 cells were divided into 3 groups. Group 1 was transfected by HMGB1 small interfering RNA (HMGB1-siRNA group). Group 2 was transfected by negative sequence small interfering RNA(negative control group) Group 3 was blank group. The mRNA and protein of HMGB1 were determined by real-time PCR and Western blotting assay respectively. The proliferation ability was examined by cell viability assay. The growth status of cells was examined by MTT at 24, 48, 72 and 96 h post-transfection. Invasion ability was evaluated by Boyden chamber model. Results The relative expression of HMGB1 mRNA of HMGB1-siRNA group (1.0±0.0) was much lower than the negative control (12.8±1.3, P<0.05) and blank groups (12.1± 1.0, P < 0.05). HMGB1 protein expression was also significantly inhibited. Cell viability of HMGB1-siRNA group was much lower than other two groups. MTT indicated the growth of HMGB1-siRNA group was significantly inhibited than other two groups. Boyden chamber model indicated the number of penetrating membrane in HMGB1-siRNA group was less than other two groups. Conclusion Down-regulating HMGB1 gene expression by HMGB1 siRNA can inhibit the invasion and proliferation of human lung cancer cell.

Objective To investigate the effects of shRNA-transforming growth factor(TGF)-β1 plasmid upon epithelial-myofibroblast transdifferentiation of renal allograft in rats. Methods Divided the Wistar rats into 4 groups: Group J (sham-operated group), T (plasmid group), H (vacant plasmid group) and Y (simply transplantation group). The SD to Wistar rat transplant kidney-sclerosis accelerated model was constructed and transfected with the plasmid based on hydromechanics. Transplanted kidneys were collected at Months 1, 2 and 3 post-transplantation. The gene transcriptional levels of TGF-β1 and E-cadherin were detected by RT-PCR and the protein variation of E-cadherin was examined by Western blotting. The pathological changes and infiltrated inflammatory cells were assessed by HE staining and the immunohistochemical staining of E-cadherin and α-SMA used to label epithelial cells and fibroblast in order to exhibit cell transdifferentiation. Results Compared with Group H and Y, the mRNA transcription of TGF-β1 was obviously inhibited in the Group T: at Month 3, the TGF-β1 mRNA of Group T is 0.73 ± 0.08, significantly lower than Group H and Y (0.92±0.07 and 0.95±0.04, both P < 0.01) ; the expression of E-cadherin was maintained at a high level: at the Month 3, the E-cadherin mRNA of Group T is 0.39±0.11, significantly higher than Group H and Y (0.15±0.07, and 0.17±0.06, both P < 0.01); the E-cadherin protein of Group T is 0.38±0.08, significantly higher than group H and Y (0.15±0.07 and 0.15±0.07, both P < 0.01) ; epithelial cells were much more and fibroblast was much less than that of Group H and Y; there were also less infiltrated chronic inflammatory cells and extracellular matrix deposition in the Group T. Conclusion The shRNA-TGF-β1 plasmid can inhibit the epithelial-myofibroblast transdifferentiation of renal allograft in rats. The mechanisms may be associated with its effects of down-regulating TGF-β1 and up-regulating E-cadherin.

Objective To determine the anti-inflammatory functions of different cysteine mutants of apolipoprotein A-Ⅰ recombinant HDLs. Methods The authors reconstituted recombinant HDLs (namely rHDL74, rHDL129, rHDL195 and rHDL228) by mixing wild type or those mutants with dipalmitoyl phosphatidylcholine and examined their in vivo effects upon LPS-induced endotoxemia in mice. Results At 24 h post-injection, mice receiving rHDL74 [TNF-α: (24±3) pg/ml; IL-1β:(45±5) pg/ml] had a significant decrease of plasma tumor necrosis factor α (TNF-α) and interleukin-1β (IL-1β) as compared with control mice receiving either saline or rHDLwt [TNF-α: (135±12) pg/ml; IL-1β:(82±8) pg/ml, P < 0.05]. Administration of rHDL74 to mice injected with LPS also led to a protection of lung against acute injury and attenuation of endotoxin-indueed clinical symptoms in mice as compared with controls injected with LPS only. Conclusion Compared with rHDLwt, rHDL74 exhibits higher anti-inflammation capabilities. And it may be a potential clinical candidate for therapy for endotoxin-indueed septic shock.

Objective To study the effects of cytoskeleton reorganization inhibition with LIMK2 RNAi upon the mechanosensitivity of c-fos gene in osteoblast. Methods Mouse primary osteoblast was treated with LIMK2 specific siRNA (RNAi Group), negative control siRNA (NC Group), and then were loaded or unloaded by fluid shear stress. Real-time PCR and immunofluorescence were used to detect the c-fos expression levels and statistics analysis was performed. Results When the cytoskeleton reorganization was inhibited with RNAi only, the c-fos mRNA (0.0108±0.0074 and 0.0042±0.0018, t = -1.86, P > 0.05) and protein (121±7 and 119±6, t= -1.272, P > 0.05) expression levels of each unloaded group had no significant difference; Fluid shear stress could up-regulate the c-fos mRNA (0.2203±0.1532 vs 0.0042±0.0018, t=-707.35, P<0.05)and protein (178±12 vs 119±6, t=-30.761, P<0.05) expression; After the cytoskeleton reorganization was inhibited with RNAi, the c-fos mRNA(0.5280± 0.0879 vs 0.2203±0.1532, t=-1007.00, P < 0.05) and protein (224±46 vs 178±12, t=-6.853, P < 0.05)expression induced by fluid shear stress had significant difference. Cytoskeleton reorganization inhibition with RNAi had synergistic effect upon the expression of c-fos mRNA(F=84.388, P < 0.05) and protein (F=42.409, P<0.05) induced by fluid shear stress. Conclusion Using RNAi against LIMK2 to inhibit the cytoskeleton reorganization can promote the expression of c-fos gene and thus enhance the mechanosensitivity of c-fos gene in osteoblast.

Objective To investigate the properties of electrophysiology and effects of ouabain upon transient outward potassium current (I_(to)) and L-type calcium current (I_(Ca-L)) of left atrium posterior wall (LAPW) and left atrium appendage tissue (LAA)in rabbit so as to provide the scientific explanations that LAPW and ouabain can enhance atrial fibrillation (AF) vulnerability through increasing electrophysiological heterogeneity and electrical remodeling of different regions of left atrium in rabbits. Methods Atrial myocytes from LAPWs and LAAs of rabbits on an in vitro heart perfusion system were obtained by enzymatic dissociation. The whole-cell patch-clamp technique was used to assess the effects of ouabain upon I_(to) and I_(Ca-L). The current-voltage (I-V) curves of I_(to) and I_(Ca-L) in LAPW and LAA myocytes were fitted before and after ouabain administration. Results (1) With holding potential + 50 mV and commanding potential + 50 mV, the current densities of LAPW I_(to) decreased slightly less than that of LAA I_(to) in control groups (P > 0.05). After ouabain administration, the current densities of LAPW I_(to) were significantly larger than that of LAA I_(to) [ (10.97±0.58) pA/pF vs (9.39±0.83) pA/pF, P < 0.05]. The I-V curve of LAPW I_(to) was slightly lowered to I-V curve of LAA I_(to) in control groups. But with perfusion of ouabain, the I-V curve of LAPW I_(to) opposed to I-V curve of LAA I_(to) significantly changed from the bottom to the top with the same upward direction. (2) With the voltage clamp protocol of I_(Ca-L), the current densities of LAPW I_(Ca-L) markedly decreased compared with that of LAA I_(Ca-L) in control groups (P < 0.05). With the addition of ouabain, the peak of amplitude of LAPW I_(Ca-L) at +20 mV obviously increased to that of LAA I_(Ca-L) [(-11.13±0.99) pA/ pF vs(-8.86±0.51) pA/pF, P < 0.01]. In the control groups, the I-V curve of LAPW I_(Ca-L) was shifted to the bottom of all I-V curves of I_(Ca-L). Through the effects of ouabain, the I-V curve of LAPW I_(Ca-L) was completely upgraded to the top of other I-V curves of I_(Ca-L). However, all shapes and directions of current peak of I-V curves of I_(Ca-L) remained unchanged in both groups. Conclusion The distribution properties of I_(Ca-L) have significant difference in LAPW. Ouabain can accentuate the electrophysiological heterogeneity and electrical remodeling of I_(to) and I_(Ca-L) in LAPW of rabbits. It may become the triggering factor and persisting basis of AF vulnerability.

Epithelial-mesenchymal transition (EMT) refers to the phenomenon of epithelial cells transdifferentiating into mesenchymal cells under specific physiological and pathological circumstances. It was discovered in 1980s that EMT is very important for tissue shaping and cell migration to form organs during embryonic development.

Drug-resistant tuberculosis, especially multidrug-resistant tuberculosis and extensively drug-resistant tuberculosis, is one of the most serious public health problems faced by the world in the 21st century [1]. Chemical drugs are still the main weapons for the treatment of drug-resistant tuberculosis [2-4]. In recent years, great progress has been made in the research of chemotherapeutic drugs for drug-resistant tuberculosis, which is briefly reviewed in this paper.

Prostate cancer is one of the common malignant tumors in elderly men. The incidence rate is extremely high in Europe and America. In the United States, the incidence rate of prostate cancer has exceeded that of lung cancer, and it has become the first tumor that harms male health. 98% of prostate cancer is adenocarcinoma, which originates from glandular cells, most of which have no obvious clinical symptoms, and are often found during digital rectal examination or further examination of serum prostate specific antigen (PSA) elevation.

Sickle cell disease (sickle cell disease, also known as sickle cell anemia) is an autosomal recessive hematological disease characterized by the appearance of hemoglobin with abnormal structure and function in red blood cells. The polymerization of these abnormal hemoglobin molecules leads to the formation of crescent or sickle-shaped red blood cells, which easily adhere to the vascular endothelium, thus hindering the normal blood flow and the release of oxygen in vital organs and tissues.

A 14-year-old male suffered from unexplained sudden nausea, vomiting, diarrhea and no fever on November 10, 2003. The local hospital examination found that the skin and sclera were yellowed, hepatosplenomegaly, serum total bilirubin (TBIL) 193 μ mol/L, aspartate aminotransferase (AST) 1508 U/L, A/G =48.18/21.54, and blood routine: hemoglobin 82 g/L, white blood cells 2.8×10~9/L, and platelets 46×10~9/L. He was admitted to hospital with hepatitis. After 3 days, he was transferred to Shanghai due to the aggravation of his condition.

A 2-year-old 5-month-old girl whose left eye pupil was whitening was found by her parents in November 2005. She went to a local hospital and was diagnosed with congenital cataract in her left eye. She underwent cataract extraction under general anesthesia. During the operation, proliferative lesions in the left fundus were found, which was considered to be persistent primitive vitreous hyperplasia, and no intraocular lens was implanted.