Objective:To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology.Methods:This was a retrospectively study. Newborn screening data ( n=5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data ( n=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates. The validity of the artificial intelligence disease risk prediction model was verified by 360 814 newborns ' screening data from January 2018 to September 2018 through a single-blind experiment. The effectiveness of the artificial intelligence disease risk prediction model was verified by comparing the detection rate of clinically confirmed cases, the positive rate of initial screening and the positive predictive value between the clinicians and the artificial intelligence prediction model of inherited metabolic diseases. Results:A total of 3 665 697 newborns ' screening data were collected including 3 019 cases ' positive data to establish the 16 artificial intelligence models for 32 inherited metabolic diseases. The single-blind experiment ( n=360 814) showed that 45 clinically diagnosed infants were detected by both artificial intelligence model and clinicians. A total of 2 684 cases were positive in tandem mass spectrometry screening and 1 694 cases were with high risk in artificial intelligence prediction model of inherited metabolic diseases, with the positive rates of tandem 0.74% (2 684/360 814)and 0.46% (1 694/360 814), respectively. Compared to clinicians, the positive rate of newborns was reduced by 36.89% (990/2 684) after the application of the artificial intelligence model, and the positive predictive values of clinicians and artificial intelligence prediction model of inherited metabolic diseases were 1.68% (45/2 684) and 2.66% (45/1 694) respectively. Conclusion:An accurate, fast, and the lower false positive rate auxiliary diagnosis system for neonatal inherited metabolic diseases by artificial intelligence technology has been established, which may have an important clinical value.

Background:The Food and Drug Administration recently announced that the use of morcellation may cause fibroids or pelvic dissemination and metastasis of uterine sarcoma;therefore,the use of morcellation is limited in the USA.A large sample study is necessary to assess the proportion of uterine malignant tumors found in patients with laparoscopic myomectomy.Methods:A national multicenter study was performed in China.From 2002 to 2014,33,723 cases were retrospectively selected.We calculated the prevalence and recorded the clinical characteristics of the patients with malignancy after morcellation application.A total of 62 cases were finally pathologically confirmed as malignant postoperatively.Additionally,the medical records of the 62 patients were analyzed in details.Results:The proportion of postoperative malignancy after morcellation application was 0.18％ (62/33,723) for patients who underwent laparoscopic myomectomy.Nearly 62.9％ (39/62) of patients had demonstrated blood flow signals in the uterine fibroids before surgery.And,23 (37.1％) patients showed rapid growth at the final preoperative ultrasound.With respect to the pathological types,38 (61.3％) patients had detectable endometrial stromal sarcoma,13 (21.0％) had detectable uterine leiomyosarcoma,only 3 (3.2％) had detectable carcinosarcoma,and 5 (8.1％) patients with leiomyoma had an undetermined malignant potential.Conclusions:The proportion of malignancy is low after using morcellation in patients who undergo laparoscopic myomectomy.Patients with fast-growing uterine fibroids and abnormal ultrasonic tumor blood flow should be considered for malignant potential,and morcellation should be avoided.

Liver cancer is a common malignant tumor in China and a major health concern. We aimed to estimate the liver cancer incidence and mortality in China in 2010 using liver cancer data from some Chinese cancer registries and provide reference for liver cancer prevention and treatment. We collected and evaluated the incidence and mortality data of liver cancer in 2010 from 145 cancer registries, which were included in the 2013 Chinese Cancer Registry Annual Report, calculated crude, standardized, and truncated incidences and mortalities, and estimated new liver cancer cases and deaths from liver cancer throughout China and in different regions in 2010 from Chinese practical population. The estimates of new liver cancer cases and deaths were 358,840 and 312,432, respectively, in China in 2010. The crude incidence, age-standardized rate by Chinese standard population (ASR China), and age-standardized rate by world standard population (ASR world) were 27.29/100,000, 21.35/100,000, and 20.87/100,000, respectively; the crude, ASR China, and ASR world mortalities were 23.76/100,000, 18.43/100,000, and 18.04/100,000, respectively. The incidence and mortality were the highest in western regions, higher in rural areas than in urban areas, and higher in males than in females. The age-specific incidence and mortality of liver cancer showed a rapid increase from age 30 and peaked at age 80-84 or 85+. Our results indicated that the 2010 incidence and mortality of liver cancer in China, especially in undeveloped rural areas and western regions, were among high levels worldwide. The strategy for liver cancer prevention and treatment should be strengthened.
China ; epidemiology ; Female ; Humans ; Incidence ; Liver Neoplasms ; epidemiology ; mortality ; Male ; Registries ; Rural Population ; Sex Distribution ; Urban Population

Nasopharyngeal carcinoma (NPC) is common in South China. Although regional epidemiological data on NPC in China is available, national epidemiological data have been unavailable up to now. The goal of this study was to analyze the NPC incidence and mortality data in some domestic cancer registries, estimate these rates in China in 2010, and provide scientific information that can be harnessed for NPC control and prevention. To accomplish this goal, NPC incidence and mortality data for 2010 were collected from 145 Chinese cancer registries from which data were included in the 2013 National Cancer Registry Annual Report. Such indices as its incident and death numbers, crude rates, age-standardized rates and truncated rates were calculated and analyzed. The incidence and mortality in China and constituent areas were estimated according to the national population in 2010. An estimated 41,503 new cases and 20,058 deaths were attributed to NPC in China in 2010, accounting for 1.34% of all new cancer cases and 1.03% of all cancer-related deaths that year in China. Crude incidence and mortality were 3.16/100,000 and 1.53/100,000, respectively. World age-standardized incidence and mortality were 2.44/100,000 and 1.18/100,000, respectively. Incidence and mortality were higher among males than among females and slightly higher in urban areas than in rural areas. Among seven Chinese administrative regions, NPC incidence and mortality were obviously higher in South China than in other regions and lowest in North China. The male and female age-specific incidence and mortality both rose quickly from age 25-29 years, but peaked at different ages and varied by location. These results demonstrated that NPC incidence and mortality in China especially in South China were at high levels in the world, and suggested that control and prevention efforts should be enhanced.
Carcinoma ; China ; epidemiology ; Female ; Humans ; Incidence ; Male ; Nasopharyngeal Neoplasms ; epidemiology ; mortality ; Registries ; Rural Population ; Urban Population

OBJECTIVETo explore the associated biomarkers influencing recurrence, metastasis and prognosis in patients with gastrointestinal stromal tumors (GIST) after complete resection.

METHODSTumor tissue samples of 148 patients with GIST undergoing complete resection from January 1990 to December 2008 in Sun Yat-sen University Cancer Center were collected. The expressions of Ki-67, E-cadherin, MMP7, CD44, nm23, P53, survivin, Cyclin D1, COX-2, and VEGF in tumor tissue samples were detected by tissue microarray and immunohistochemistry (IHC). The association of above factors expressions with recurrence, metastasis and prognosis was examined.

RESULTSLog-rank test showed that Ki-67, E-cadherin, MMP7, CD44, P53 and survivin were associated to disease-free duration after complete GIST resection (all P<0.05), and the Ki-67, E-cadherin, P53 and survivin were associated to overall survival (all P<0.05). Cox multivariate analysis revealed that disease-free survival was associated with Ki-67, CD44 and P53 (all P<0.05), and the overall survival was only associated with Ki-67 (P<0.05).

CONCLUSIONKi-67, CD44 and P53 are closely associated with recurrence and metastasis after complete GIST resection, and Ki-67 can predict the prognosis of GIST.

Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; metabolism ; Female ; Gastrointestinal Neoplasms ; metabolism ; surgery ; Gastrointestinal Stromal Tumors ; metabolism ; surgery ; Humans ; Hyaluronan Receptors ; metabolism ; Ki-67 Antigen ; metabolism ; Male ; Middle Aged ; Neoplasm Metastasis ; Neoplasm Recurrence, Local ; Prognosis ; Tumor Suppressor Protein p53 ; metabolism

OBJECTIVETo explore the effects and the molecular mechanism of puerariae radix flavones (PRF) on acute myeloid leukemia cell line Kasumi-1 cells in vitro.

METHODSKasumi-1 cells treated by PRF for 48 hours were observed with Wright's and Hoechst 33258 dying. The apoptotic cells were analyzed by flow cytometry with AnnexinV/PI staining. The expression levels of bcl-2, Bim and Caspase-3/-8/-9 protein were assayed by Western blot and the AML1-ETO fusion gene was detected by real-time polymerase chain reaction.

RESULTSPRF could induce Kasumi-1 cells to apoptosis effectively. The proportion of apoptotic cells in 50, 200 and 500 µg/ml PRF treatment groups were (14.1 ± 0.8)%, (17.7 ± 1.3)% and (32.4 ± 1.4)%, respectively, and significantly higher than that of control \[(7.8 ± 0.7)%\]. The relative expression levels of the anti-apoptotic Bcl-2 protein were 0.85 ± 0.05, 0.62 ± 0.07 and 0.43 ± 0.05; the apoptotic Bim protein were 0.21 ± 0.06, 0.39 ± 0.04 and 0.75 ± 0.05; the caspase-3 and caspase-9 were 0.92 ± 0.04, 1.21 ± 0.07, 1.33 ± 0.04 and 0.35 ± 0.05, 0.53 ± 0.03, 0.69 ± 0.07, respectively. Compared to the blank control group, all these changes were significant (P < 0.01). Nevertheless, nearly no changes could be observed on the expression level of AML1-ETO fusion gene and caspase-8 protein.

CONCLUSIONApoptosis of Kasumi-1 cells induced by PRF might correlate to the down-regulation of Bcl-2 protein expression and the activation of caspase-3 and caspase-8 protein in the cells. It seemed that all these effects had no relationship with the AML1-ETO fusion gene.

Apoptosis ; drug effects ; Caspase 3 ; metabolism ; Caspase 8 ; metabolism ; Cell Line, Tumor ; Core Binding Factor Alpha 2 Subunit ; genetics ; metabolism ; Flavones ; pharmacology ; Humans ; Oncogene Proteins, Fusion ; genetics ; metabolism ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Pueraria ; RUNX1 Translocation Partner 1 Protein

OBJECTIVEBased on the 2002 WHO health survey data, to explore the latent relationship among self-reported health level, the actual level of health, the social demographic characteristics and the risk factors, and to analyze the influence of the various surveillance indicators on self-reported health and the degree that the self-reported health explained the actual level of health.

METHODSField tests for various components of the World health survey were conducted in nine countries during 2002, including India, Brazil, Burkina, Hungary, Nepal, Russia, Spain, Tunisia, and Vietnam (29 971). The survey questionnaire included a self-assessment component and anchoring vignette component. The self-assessment component data was adjusted and eliminated the affect of "cut-point bias" by using the anchoring vignette component data, and then was used to build the structural equation model on the relationship among self-reported health level, actual health level, social demographic characteristics and the risk factors.

RESULTSIn the final structural equation model, "the actual level of health" = 0.80 × "the self-reported health level" + (-0.04) × "the social demographic characteristics" + (-0.08) × "the risk factors" (R(2) = 0.66), and "the self-reported health level" = (-0.70) × "the social demographic characteristics" + 0.10 × "the risk factors" (R(2) = 0.55). The standardized total effect of self-reported health to the actual level of health was 0.80, and that of the social demographic characteristics to the self-reported health and the actual level of health were -0.70 and -0.60, respectively. And the 16 items of self-reported health consisted of 8 dimensions; and sorted by the power of impact to the actual health level, they were mobility, pain and discomfort, sleep, cognition, feelings, self-care ability, visual capacity and interpersonal activities.

CONCLUSIONThere were significant linear correlation relationship between the actual level of health and the self-reported health, as well as between the self-reported health and the social demographic characteristics. And the self-reported 16 items used by the 2002 WHO health survey played an important role in the health evaluation of population.

Demography ; Health Status ; Health Surveys ; Humans ; Models, Statistical ; Risk Factors ; Self Report ; Surveys and Questionnaires ; World Health Organization

This study was aimed to investigate the effects of flavonoids of puerarin (PR) on apoptosis of acute promyelocytic leukemia (APL) cell line NB4 cells and its mechanism. The NB4 were treated with PR in vitro, the MTT assay was used to detect the inhibitory effect of PR on cell proliferation. The apoptosis of NB4 cells were detected by flow cytometry labelled with Annexin V/PI. The expressions of pml/rar alpha, bcl-2 and survivin were detected by real time reverse transcription-polymerase chain reaction (real time RT-PCR), the expressions of JNK, p38 MAPK, FasL, caspase 3, caspase 8 were detected by Western blot. The results showed that with the increasing of PR concentrations, the apoptosis rates of NB4 cells were gradually elevated. Simultaneously, the mRNA expression of pml/rar alpha, bcl-2 and survivin decreased, while the protein expression of JNK, FasL, caspase 3 and caspase 8 increased, which presented the positive correlation to PR concentrations. When PR combined with arsenic trioxide (ATO), the expression levels of above mentioned mRNA and protein decreased or increased more significantly. It is concluded that PR can effectively induce the apoptosis of NB4 cells. PR combined with ATO displays synergistic effect. It may be triggered by the activation of JNK signal pathway.
Apoptosis ; drug effects ; Apoptosis Regulatory Proteins ; metabolism ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Humans ; Isoflavones ; pharmacology ; JNK Mitogen-Activated Protein Kinases ; metabolism ; Leukemia, Promyelocytic, Acute ; pathology

Occult hepatitis B virus (HBV) infection status of blood donors in a southern city in China was investigated by immunological assays and nucleic acid testing. Overall, 17 (0.19%, 95% CI: 0.11%-0.30%) of the 9023 HBsAg negative samples were found to be positive for the presence of HBV DNA. "A" epitope sequences were obtained from 14 among them. Mutation(s) in aa124-aa147 existed in 6 (42.9%, 6/14) samples and 4 (66.7%, 4/6)were G145R mutation. Ratio of genotype C in occult donors (10/17) was statistically higher than HBs-positive donors (0/15, P<0.01), which implied that HBV genotype C leaded to occult infection more easily.
Adolescent ; Adult ; Blood Donors ; China ; epidemiology ; DNA, Viral ; genetics ; Female ; Genotype ; Hepatitis B ; epidemiology ; immunology ; virology ; Hepatitis B Surface Antigens ; genetics ; immunology ; Hepatitis B virus ; classification ; genetics ; immunology ; physiology ; Humans ; Immunologic Tests ; Male ; Mutation ; Sequence Alignment ; Sequence Analysis, DNA ; Young Adult

OBJECTIVETo study the relationship between CYP1A1 genetic polymorphism and intrahepatic cholestasis of pregnancy (ICP) in Chengdu of China.

METHODSMspI and Ile/Val genotypes of CYP1A1 gene were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific amplification-PCR (ASA-PCR) in a case-control study, including 100 cases of ICP and 100 controls.

RESULTSThere was no significant correlation between MspI polymorphism and ICP susceptibility (P>0.05). However, the Ile/Val+Val/Val genotypes of CYP1A1 significantly increased the risk of ICP (P=0.047, OR=1.768).

CONCLUSIONThe Ile/Val polymorphism in exon 7 of CYP1A1 may be associated with the susceptibility of ICP in Chengdu. The MspI polymorphism of CYP1A1 is not associated with the risk of ICP in Chengdu.

Case-Control Studies ; Cholestasis, Intrahepatic ; genetics ; Cytochrome P-450 CYP1A1 ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Genetic ; Pregnancy ; Pregnancy Complications ; genetics