Arterial chemotherapy for hepatocellular carcinoma in China: consensus recommendations.

Hepatocellular carcinoma (HCC) is one of the most common malignancies and the third leading cause of cancer-related deaths globally. Hepatic arterial infusion chemotherapy (HAIC) treatment is widely accepted as one of the alternative therapeutic modalities for HCC owing to its local control effect and low systemic toxicity. Nevertheless, although accumulating high-quality evidence has displayed the superior survival advantages of HAIC of oxaliplatin, fluorouracil, and leucovorin (HAIC-FOLFOX) compared with standard first-line treatment in different scenarios, the lack of standardization for HAIC procedure and remained controversy limited the proper and safe performance of HAIC treatment in HCC. Therefore, an expert consensus conference was held on March 2023 in Guangzhou, China to review current practices regarding HAIC treatment in patients with HCC and develop widely accepted statements and recommendations. In this article, the latest evidence of HAIC was systematically summarized and the final 22 expert recommendations were proposed, which incorporate the assessment of candidates for HAIC treatment, procedural technique details, therapeutic outcomes, the HAIC-related complications and corresponding treatments, and therapeutic scheme management.

A series of fluorescent dyes based on 4-phenylacetylene-1,8-naphthalimide: Synthesis, theoretical calculations, photophysical properties and application in two-color imaging and dynamic behavior monitoring of lipid droplets and lysosomes.

A series of fluorescent dyes (NapPAs) based on 4-phenylacetylene-1,8-naphthalimide were synthesized and characterized, whose conjugated structures were extended by the introduction of phenylethynyl. Furthermore, changes in the photophysical properties of the dyes when substituents with varying electron richness were introduced at the p-position of phenylacetylene were studied. The theoretical calculation of the dye molecules was carried out by B3LYP functional and 6-31G(d,p) basis set, and the effects of different substituents at the p-position of phenylacetylene on the electronic structure and photophysical properties of the dyes were studied by theoretical calculation results. Theoretical calculations provided a reliable means of predicting the properties of dyes, which could help in the design of more efficient and novel dyes. To verify the practicability of the dyes, two dyes with excellent photophysical properties (large Stokes shift, high polarity-viscosity sensitivity, good biocompatibility) were selected as fluorescent probes for visualization of LDs and two-color imaging of LDs and lysosomes. Cell imaging showed that NapPA-LDs and NapPA-LDs-Lyso serve as excellent imaging tools to monitor the dynamic changes, movements, and behaviors of LDs and lysosomes in real time. Notably, NapPA-LDs-Lyso held promise as a potential tool to study the interaction between LDs and lysosomes.

[Effects of electroacupuncture on pregnancy outcome in poor ovarian response patients of kidney essence deficiency and undergoing in vitro fertilization-embryo transfer].

OBJECTIVE: To observe the effects of electroacupuncture (EA) on ovarian reaction, egg and embryo quality, as well as pregnancy rate in poor ovarian response (POR) patients of kidney essence deficiency and undergoing in vitro fertilization-embryo transfer (IVF-ET). METHODS: Ninety-six patients who met the inclusion criteria were randomly divided into an EA group and a control group, with 48 cases in each group. Before IVF-ET, the patients in the EA group received EA, once daily, 2 or 3 treatments a week for 12 weeks. Before and after the treatment, traditional Chinese medicine (TCM) syndrome score and clinical pregnancy rate were assessed in two groups. The concentrations of serum follicle-stimulating hormone (FSH), luteinsing hormone, estradiol, progesterone and anti-mullerian hormone were detected by chemiluminescence; the contents of serum insulin-like growth factor-1, serum inhibin B (INHB) and Kisspeptin in follicular fluid were determined by enzyme linked immunosorbent assay (ELISA); the antral follicle counting (AFC) was detected by color Doppler ultrasonography; and the egg and embryo conditions were observed under microscope. Fourteen days after embryo transfer, the positive rate of serum hemchoriconic gonadotropin (HCG) and clinical pregnancy rate were calculated. RESULTS: After the treatment, the TCM syndrome score and level of serum FSH were reduced (P<0.05); the INHB in serum and AFC were increased (P<0.05) when compared with those before the treatment in the EA group. After the treatment, in comparison with the control group, the TCM syndrome score and level of serum FSH were lower (P<0.05); and the contents of serum INHB, AFC, the numbers of MⅡ eggs and high-quality embryos, as well as serum HCG positive rate were all increased (P<0.05) in the EA group. CONCLUSION: EA can relieve the clinical symptoms of TCM in POR patients of kidney essence deficiency and undergoing IVF-ET, increase the ovarian reserve, reduce the serum FSH level, and improve the content of serum INHB, and the quality of eggs and embryos. This therapy tends to improve the clinical pregnancy rate and clinical pregnancy outcome.

A repeated dose 28-day oral toxicity study of sodium dehydroacetate (DHA-S) in Wistar rats.

Sodium dehydroacetate (DHA-S) is a food additive and preservative. The present study was conducted to investigate the potential toxicity of repeated oral doses of DHA-S. DHA-S was administered orally by gavage to Wistar rats at doses of 0, 50, 100, or 200 mg/kg BW/day for 28 days, after which growth indicators, clinical pathology, organ weights, and histopathology were determined. Body weight and food consumption were significantly reduced at doses of 100 or 200 mg/kg BW, and some hematological indexes and organ weight were significantly affected, particularly in female rats. At a dose of 200 mg/kg BW, the blood coagulation activities were significantly reduced in female rats. At a dose of 100 or 200 mg/kg BW, the main blood biochemical parameters of both sexes were obviously affected. Similar histological changes in the hepatic and renal tissues were observed in both the treated (200 mg/kg BW DHA-S) and control animals. Female rats were more susceptible to most of the toxic effects caused by DHA-S, which further indicating a gender difference in the toxic phenotype profile of rats. Based on these results, the no observed adverse effect level (NOAEL) of DHA-S was determined to be 50 mg/kg BW/day in rats.

Research on the Localization Development Path of Narrative Medicine / 中国医学伦理学

After more than ten years of preliminary exploration, the localization development of narrative medicine has made some achievements in theoretical research, medical education and clinical practice, but its development direction and pathway still need to be further confirmed. From the five perspectives of policy system, management mechanism, cultural background, medical education and social development trends, this paper discussed systematically and macroscopically the localization development of narrative medicine, and advocated that improving the top-level design and local policies, constructing management systems at all levels, taking root in Chinese culture, carrying out systematic narrative education and closely integrating with the development trend, so as to inspire the theoretical construction of the development path of narrative medicine in China.

VIGS Silencing SlWRKY53b Gene Inhibits Tomato Fruit Ripening / 中国生物化学与分子生物学报

Tomato (Solarium lycopersicum) is one of the most popular vegetables worldwide and is a classic model plant for studying fruit development and ripening due to its short growth cycle, clear genetic background and ease of molecular manipulation. This paper used virus-induced gene silencing (VIGS) to construct SlWRKY53b gene-silenced tomato fruits and analyzed the effect of SIWRKY531) gene silencing in the tomato fruit ripening process. We found that transient silencing of SIWRKY531) resulted indelayed in-broken color, higher chlorophyll contents (P<0.05) and reduced carotenoid contents (P<0.05) in tomato fruits, and color difference results indicated that the differences in L *, a * and b * values were consistent with fruit color changes. Further studies showed that genes significantly down-regulated (P<0.01) in SIWRKY531) gene-silenced tomato fruits include the chlorophyll degradation-related genes (AFCl, PAO, PPH, SGR1), carotenoid synthesis-related genes (PSYl, PDS, ZDS), ethylene synthesis pathway-related genes (ACOl, ACS2, NOR, AC03, EA, RIN), and cell wall degradation-related genes (PG, EXP, CELT.). Correlation analysis showed that the expression of SlWRKY53b was negatively correlated with chlorophyll contents and positively correlated with carotenoid contents and the expression of maturation-related genes. These results suggest that inhibition of SIWRKY531) expression at the transcrip-tional level can achieve the effect of delaying tomato fruit ripening, indicating that S1WRKY531) plays arole as a facilitator in the tomato fruit ripening process.

Molecular mechanism of Leucopaxillus giganteus against breast cancer based on network pharmacology and in vitro experiments / 中国药理学通报

Aim To study the mechanism of the ethanol extract from Leucopaxillus giganteus (LGEE) in treating breast cancer based on network pharmacology and molecular experimental validation. Methods Some chromatographic methods were used to isolate the chemical constituents of LGEE, and their structures were elucidated based on spectral data. The antitumor activities of LGEE were determined by MTT assay. The predicted targets of LGEE were selected by TCMSP and Pharmmaper, and Genecards database was used to screen the targets. GO and KEGG analysis of target genes were performed. Molecular docking was used to test the binding of active components to core targets. Western blotting was used to validate the regulating function of chlorogenic acid on CHEK2 and CASP3 targets of MDA-MB-231 cells. Results Thirteen compounds were identified including clitocine, chlorogenic acid and so on. LGEE displayed anticancer activities against MDA-MB-231 with the inhibition percent (87. 35 ± 1. 55)%, at the concentration of 200 mg· L

Chinese expert consensus on perioperative management of renal tumor cryoablation (2022 edition) / 中华内科杂志

In recent years, the incidence of renal cancer has been increasing continuously. Surgical resection is the "gold standard" for the treatment of small renal cancer. However, local ablation therapy of renal cancer is undoubtedly the best choice for patients with short life expectancy, other complications, and impaired renal function who are not suitable for surgery. In recent years, with the development of ablation techniques and long-term follow-up, local ablation has shown good therapeutic effects. As many domestic hospitals are performing or planning to perform renal tumor cryoablation to improve the clinical cure rate and surgical safety of renal tumor cryoablation, it is necessary to standardize the surgical indications, contraindications, perioperative management, efficacy evaluation, and other common problems. Currently, there is no expert consensus regarding perioperative renal tumor cryoablation in China. To standardize the perioperative management of renal tumor cryoablation and related technical operations in clinical practice, and improve the effectiveness and safety of cryoablation, the expert committee of Tumor Interventional and Minimally Invasive Diagnosis and Treatment Continuing Education Base of the Chinese Anti-Cancer Association convened experts in related fields to discuss and formulate this consensus, which is hereby published, for clinical reference and application.

Study on effective components of Ganoderma applanation and its mechanism of action in preventing COVID-19 based on UHPLC-Q- Exactive-Orbitrap-MS integrated network pharmacology / 中国药理学通报

Aim To elucidate the effective components of Ganoderma applanatum and its mechanism of preventing the coronavirus disease 2019(COVID-19).Methods To begin with, UHPLC-Q-Exactive-Orbitrap-MS was established to identify the main chemical constituents of G.applanatum.Then, the predicted targets of G.applanatum were selected by Swiss Target Prediction.GO analysis and KEGG analysis of core target genes were performed using the DAVID database.Finally, to explore the potential mechanism of G.applanatum against COVID-19, core functional components-core target-metabolism path network diagram was constructed using Cytoscape 3.8.0, and molecular docking was used to analyze the binding force of the core effective compounds with angiotensin-converting enzyme II(ACE2)and three SARS CoV-2 proteins, nonstructural protein-15 Endoribonuclease(NSP15), the receptor-binding domain of spike protein(RBD of S protein), and main protease(Mpro/3CLpro).Results Sixty-two components were identified from G.applanatum by UHPLC-Q-Exactive-Orbitrap-MS study; 30 active components were closely associated with 32 core targets including IL6, PTGS2, and MAPK1; KEGG analysis showed that it might treat COVID-19 through signaling pathways, such as PI3K-Akt signaling pathway, TNF signaling pathway, tuberculosis, and so on; molecular docking analysis showed that 1,4-Dihydroxy-2-naphthoic acid, parthenolide, 7,8-Dihydroxycoumarin, and other vital compounds had a certain degree of affinity with ACE2 and three SARS CoV-2 proteins.Conclusion This study clarifies the chemical composition and the potential mechanism of G.applanatum, providing a scientific basis for screening the effective ingredients of G.applanatum.

Survey on Knowledge, Attitude, and Behavior Regarding Narrative Medicine Based on 2 145 Medical Personnel / 中国医学伦理学

【Objective:】 To understand the knowledge, attitude and behavior of Chinese medical personnel on narrative medicine. 【Methods:】 2 145 domestic medical staff were investigated through online questionnaire by convenient sampling. 【Results:】 The scoring rates of knowledge, attitude and behavior of narrative medicine among medical personnel were 49.62%, 47.18%, and 41.43% respectively. 【Conclusion:】 From the cognitive perspective, although most of the participants were familiar with the big framework of narrative medicine, they knew little about the specific methods and tools. As for attitude, medical staff can still further learn the attitude and identity of narrative medicine related theories. But the overall attitude was positive, which laid a foundation for further promoting narrative medicine. From the behavioral perspective, medical personnel’s reading and writing frequency of disease narrative stories was relatively low. In the future, relevant skills training and habit cultivation should be strengthened.

Research on Medical Humanistic Spirit Construction Based on Narrative Medicine Education: Based on KAP Survey Report of 2 145 Medical Staff / 中国医学伦理学

【Objective:】 To understand the current situation of narrative medical education for medical staff in China, and to explore the construction of the practice mode of medical humanistic spirit in the new era. 【Methods:】 The cross-sectional study and convenience sampling method were used to conduct an online questionnaire survey on the knowledge, attitude and behavior of 2,145 medical staff about narrative medicine in China. 【Results:】 The knowledge of the surveyed medical staff about narrative medicine was at a lower moderate level. Nearly 70% of the medical staff had a positive attitude toward learning and using narrative medicine, with a high degree of recognition, but 30% of medical staff still had a negative attitude toward narrative medicine practices such as parallel medical records. The frequency of related behaviors among medical staff was low, and the proportion of people who evaluated the questions as positive accounted for about 40%, especially about 30% of the people evaluated as positive in narrative medicine practice projects. 【Conclusion:】 Narrative medical education in China is at the primary stage and is facing many tests such as the effectiveness of the transformation of theoretical results. The healthy and sustainable development of narrative medical education must be combined with the practical experience of medical humanities education at home and abroad to explore narrative programs with Chinese characteristics. Narrative medical education focuses on the three links of "narrative medical knowledge, attitude and behavior" and closely links its humanistic connotation, which is of great significance to enrich and innovate the medical humanistic education model.

Ultrasound-guided fine-needle aspiration biopsy of thyroid neoplasms with lipomatous stroma: Report of two cases.

Thyroid tumors with abundant adipose tissue component are rare, reportedly accounting for 0.98-2.8% of all thyroid nodules, and include entities such as thyroid lipoadenoma and thyroid carcinoma with lipomatous stroma (TCLS). They may be encountered on fine-needle aspiration biopsy (FNAB), which is widely used in evaluation of thyroid nodules. However, due to their relative rarity, adipose elements rarely are recognized preoperatively in these tumors. Herein, we report two cases of thyroid tumors with abundant adipose tissue, along with cytologic, histologic, and ultrasonographic features. Although an intermixture of adipose tissue and thyroid follicular cells is the key cytologic feature of thyroid tumors with adipose stroma, other cytologic findings, such as abundant fat droplets or isolated fragments of adipose tissue, also should raise the possibility of a fat-containing tumor, particularly when a biopsy is performed by a cytopathologist under ultrasonographic guidance and adequate radiologic-pathologic correlation. Cytopathologists should be aware that overlooking lesional adipose tissue within a thyroid neoplasm might give the false impression of a non-diagnostic or sparsely cellular FNAB specimen.

Apoptotic mechanism of premature ovarian failure and rescue effect of Traditional Chinese Medicine: a review.

Social and environmental factors render premature ovarian failure (POF) as a major cause of decline or loss of female fertility. The natural pregnancy rate of patients with POF is only 5%-10%. Follicular atresia is the main factor in the pathogenesis of POF. Due to the unique ovarian physiological environment and follicular developmental processes, the apoptosis of ovarian granulosa cells and oocytes together cause follicular atresia, which involves the apoptosis-related internal and external pathways. Furthermore, during POF, apoptosis and oxidative stress forms a ""vicious circle"", which involves a variety of changes between the molecules. The existing pharmaceutical preparations such as gonadal hormones are the basic methods for the treatment of POF, and the curative effect was affirmative; however, it was ineffective after withdrawn, while the long-term application led to adverse reactions. Traditional Chinese Medicine (TCM) has a history of treating gynecological diseases and infertility and has gained increasing attention. Studies have shown that compounds isolated from herbal medicine exerted a positive effect on follicular atresia caused by cell apoptosis that also improved the POF. The present study reviewed the mechanisms underlying the apoptosis in POF and elaborated the internal mechanism of TCM in the treatment of the condition.

Bloodletting Puncture at Hand Twelve Jing-Well Points Relieves Brain Edema after Severe Traumatic Brain Injury in Rats via Inhibiting MAPK Signaling Pathway / 中国结合医学杂志

OBJECTIVE@#To investigate whether blood-brain barrier (BBB) served a key role in the edema-relief effect of bloodletting puncture at hand twelve Jing-well points (HTWP) in traumatic brain injury (TBI) and the potential molecular signaling pathways.@*METHODS@#Adult male Sprague-Dawley rats were assigned to the sham-operated (sham), TBI, and bloodletting puncture (bloodletting) groups (n=24 per group) using a randomized number table. The TBI model rats were induced by cortical contusion and then bloodletting puncture were performed at HTWP twice a day for 2 days. The neurological function and cerebral edema were evaluated by modified neurological severity score (mNSS), cerebral water content, magnetic resonance imaging and hematoxylin and eosin staining. Cerebral blood flow was measured by laser speckles. The protein levels of aquaporin 4 (AQP4), matrix metalloproteinases 9 (MMP9) and mitogen-activated protein kinase pathway (MAPK) signaling were detected by immunofluorescence staining and Western blot.@*RESULTS@#Compared with TBI group, bloodletting puncture improved neurological function at 24 and 48 h, alleviated cerebral edema at 48 h, and reduced the permeability of BBB induced by TBI (all P<0.05). The AQP4 and MMP9 which would disrupt the integrity of BBB were downregulated by bloodletting puncture (P<0.05 or P<0.01). In addition, the extracellular signal-regulated kinase (ERK) and p38 signaling pathways were inhibited by bloodletting puncture (P<0.05).@*CONCLUSIONS@#Bloodletting puncture at HTWP might play a significant role in protecting BBB through regulating the expressions of MMP9 and AQP4 as well as corresponding regulatory upstream ERK and p38 signaling pathways. Therefore, bloodletting puncture at HTWP may be a promising therapeutic strategy for TBI-induced cerebral edema.

Silybin alleviates hepatic lipid accumulation in methionine-choline deficient diet-induced nonalcoholic fatty liver disease in mice via peroxisome proliferator-activated receptor α / 中国天然药物

Nonalcoholic fatty liver disease (NAFLD) is regarded as the most common liver disease with no approved therapeutic drug currently. Silymarin, an extract from the seeds of Silybum marianum, has been used for centuries for the treatment of various liver diseases. Although the hepatoprotective effect of silybin against NAFLD is widely accepted, the underlying mechanism and therapeutic target remain unclear. In this study, NAFLD mice caused by methionine-choline deficient (MCD) diet were orally administrated with silybin to explore the possible mechanism and target. To clarify the contribution of peroxisome proliferator-activated receptor α (PPARα), PPARα antagonist GW6471 was co-administrated with silybin to NAFLD mice. Since silybin was proven as a PPARα partial agonist, the combined effect of silybin with PPARα agonist, fenofibrate, was then evaluated in NAFLD mice. Serum and liver samples were collected to analyze the pharmacological efficacy and expression of PPARα and its targets. As expected, silybin significantly protected mice from MCD-induced NAFLD. Furthermore, silybin reduced lipid accumulation via activating PPARα, inducing the expression of liver cytosolic fatty acid-binding protein, carnitine palmitoyltransferase (Cpt)-1a, Cpt-2, medium chain acyl-CoA dehydrogenase and stearoyl-CoA desaturase-1, and suppressing fatty acid synthase and acetyl-CoA carboxylase α. GW6471 abolished the effect of silybin on PPARα signal and hepatoprotective effect against NAFLD. Moreover, as a partial agonist for PPARα, silybin impaired the powerful lipid-lowering effect of fenofibrate when used together. Taken together, silybin protected mice against NAFLD via activating PPARα to diminish lipid accumulation and it is not suggested to simultaneously take silybin and classical PPARα agonists for NAFLD therapy.

Immunogenicity study on recombinant fHBP of meningococcal group B / 中华微生物学和免疫学杂志

Objective:To evaluate the immunogenicity of recombinant factor H binding protein(fHBP) by detecting serum antibody titer and serum bactericidal antibody test (SBA).Methods:fHBP sequence was selected and synthesized, connected to plasmid pET43.1a, transformed to Escherichia coli BL21(DE3), and expressed two recombinant fHBP proteins, included two subfamilies, fHBPA and fHBPB. After purification, the recombinant fHBP proteins were immunized to rabbits and mice. The immune antiserum titer and the bactericidal titer to epidemic strains of meningococcal bacteria group B were measured by ELISA and SBA respectively. Results:The antiserum titer of fHBP immunized rabbits was greater than 2.0×10 6, and that of immunized mice was not less than 1.0×10 6. fHBP immunized rabbit serum had bactericidal titer more than 1∶128 to 41 strains A subfamily and 20 strains B subfamily in the SBA against 69 endemic strains, and there was no cross-protection between the subfamily bacteria. The bactericidal titers of mouse serum immunized fHBPA to strains A subfamily such as Nm210902 Nm211009、Nm450522 were 1∶1 024, 1∶608、1∶861, to Nm510703、Nm311304、Nm431002 were 1∶234、1∶861、1∶430 respectively, and mouse serum immunized fHBP B to strains B subfamily Nm311302、Nm311304、Nm431002 were 1∶876、1∶274、1∶1858, all of three strains were positive in bactericidal titers. Conclusions:the titer of fHBP antiserum was higher than 1.0×10 6, the bactericidal titer was no less than 1∶128 to 61 epidemic strains, and it has a 94.2% protective effect on 69 meningococcal epidemic strains group B.

Cognitive impairment in children with benign childhood epilepsy with centrotemporal spikes and attention deficit hyperactivity disorder: a prospective study / 中国当代儿科杂志

OBJECTIVES@#To study the difference in cognitive impairment between the children with benign childhood epilepsy with centrotemporal spikes (BECT) and attention deficit hyperactivity disorder (ADHD) and those with BECT or ADHD alone.@*METHODS@#A prospective study was performed on 80 children with BECT and ADHD, 91 children with BECT, and 70 children with ADHD , who were diagnosed with the diseases for the first time. Seventy children of the same age who underwent physical examination were enrolled as the healthy control group. Event-related potential P300, Wechsler Intelligence Scale for Children, and integrated visual and auditory continuous performance test were used to measure and compare each index between groups.@*RESULTS@#Compared with the healthy control group, the BECT+ADHD group, the BECT group, and the ADHD group had a significantly prolonged P300 latency, a significant reduction in the amplitude of P300, and significant reductions in the scores of verbal comprehension index (VCI), perceptual reasoning index (PRI), working memory index (WMI), processing speed index (PSI), full scale intelligence quotient (FSIQ), auditory response control quotient (ARCQ), visual response control quotient, full response control quotient (FRCQ), auditory attention quotient (AAQ), visual attention quotient, and full attention quotient (@*CONCLUSIONS@#Compared with the children with BECT or ADHD alone, the children with both BECT and ADHD have basically the same fields of cognitive impairment but a higher degree of cognitive impairment in some fields.

Advances of Usher syndrome and USH2A gene / 中华眼底病杂志

Usher syndrome (USH) is the most common cause of deaf-blindness diseases characterized by sensorineural hearing loss and retinitis pigmentosa. Patients are clinically and genetically heterogeneous, however, there are no convincing methods for prevention and treatment. USH2A is the most common disease-causing gene among 14 genes related to Usher syndrome. Great progress has been achieved in the pathogenic mechanism, animal models studies, diagnosis, and treatments based on gene therapy, cells transplantation and antisense oligonucleotide-based splice correction. Mutations in USH2A result in defects in USH complex proteins which involved in the transport function of the peripheral cilia region. There is respective limitations in established mouse and zebrafish animal models. Two promising treatments of this disease are introduced. One is clinical transplantation of visual organs which induced from corrected patient-derived induced pluripotent stem cells by the CRISPR/Cas9 system and another one is the RNA splicing therapy based on antisense oligonucleotides.

Clinical manifestation and gene mutation of Bietti crystalline corneoretinal dystrophy / 中华实验眼科杂志

Objective To analyze the clinical manifestation and CYP4V2 mutations of Bietti crystalline corneoretinal dystrophy( BCD) families. Methods Total of 234 patients (173 families) diagnosed as BCD were recruited in Peking University Third Hospital from 2010 to 2018. All of the subjects underwent comprehensive eye examinations to observe the clinical manifestations. Blood samples were collected and genomic DNA was extracted. The Sanger sequencing or high- throughput sequencing was applied for CYP4V2 gene mutation analysis. This study was approved by the Ethics Committee of Peking University Third Hospital (NO. 2012093). All patients and their family members signed informed consent. Results Some patients manifested the typical phenotype of BCD characterized by yellowish-white crystalline deposits throughout the fundus. However,some patients in advanced stage were easily misdiagnosed as other inherited retinal degeneration because the crystalline deposits diminished or even disappeared. Forty-nine probands in our cohort were misdiagnosed as other inherited retinal degeneration at first visit, with a misdiagnosis rate of 28. 3％. Genetic diagnosis results showed that 161 patients carried CYP4V2 mutation,and the positive rate was 93. 1％. Eight novel mutations were obtained. The three known mutations c. 802-8 _810del17bp, c. 1091-2 A>G and c. 992 A>C accounted for 73. 5％ of the mutations, which were hotspots in Chinese Han populations for BCD. Conclusions Patients with BCD have characteristic fundus manifestation, but are easily misdiagnosed in advanced stage. Molecular diagnosis is valuable in clinical diagnosis of the disease,thus contribute to the prevention and treatment of the disease. A single hybrid mutation is not enough to lead to BCD. No apparent genotype-phenotype correlation between the CYP4V2 gene and occurrence of BCD is identified.