Accidents, Occupational ; prevention & control ; China ; Humans ; Occupational Diseases ; prevention & control ; Occupational Exposure ; prevention & control ; Occupational Health Services ; organization & administration ; Safety

Animals ; Carcinoma, Neuroendocrine ; metabolism ; pathology ; physiopathology ; Carcinoma, Small Cell ; metabolism ; pathology ; physiopathology ; Cell Differentiation ; Chromogranin A ; metabolism ; Humans ; Male ; Neuroendocrine Cells ; metabolism ; pathology ; Prostatic Neoplasms ; metabolism ; pathology ; physiopathology

According to the principle of evidence-based medicine (EBM), Chinese medical literatures based descriptive statistical analysis of common Chinese medical syndrome types were performed. By data extraction, standardization, and frequency calculation of disease names and syndrome types from 286 literatures in line with the inclusion criteria, the frequencies of diseases and syndromes were obtained to analyze common syndrome types in clinical practice, to analyze the distribution features of disease related syndromes and syndrome related diseases, to analyze the distribution of basic Chinese medical syndrome types in clinical common diseases as a whole, thus providing reference for clinical and basic researches.
Evidence-Based Medicine ; Humans ; Medicine, Chinese Traditional

OBJECTIVETo detect the expression of surface molecule CD96 on stem cell (LSC) in children with acute leukemia, and to explore its clinical significance.

METHODSBone marrow mononuclear cells were isolated in 69 children with newly diagnosed acute leukemia. CD34(+)CD38(-)CD123(+) LSCs were separated from these cells by flow cytometry (FCM) and then cultured, and CD96 expression on LSCs was detected by FCM. R-banding technique was used to analyze the karyotypes of the 69 children, and the data of their routine blood and immunological tests were collected.

RESULTSCD96 was mainly expressed in children with acute myelogenous leukemia, and expressed to a lesser extent in those with acute lymphoblastic leukemia (P<0.05). The median expression level of CD96 in Uyghur children was 23.4%, versus 21.2% in Han children (P>0.05). The majority of children with CD96-positive children presented poor-prognosis karyotypes. Compared with CD96-negative children, children with CD96-positive children had a significantly lower complete remission rate (P<0.05) and significantly higher infection and relapse rates after chemotherapy (P<0.05).

CONCLUSIONSChildren with acute leukemia who have CD96-positive LSCs have a poor prognosis. CD96 may be a new indicator of prognosis in children with acute leukemia.

Adolescent ; Antigens, CD ; analysis ; Child ; Child, Preschool ; Humans ; Infant ; Leukemia, Myeloid, Acute ; drug therapy ; genetics ; immunology ; pathology ; Neoplastic Stem Cells ; chemistry ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; drug therapy ; genetics ; immunology ; pathology ; Prognosis

OBJECTIVETo investigate the clinicopathological features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC).

METHODSPatients who met the Amsterdam criteria were enrolled in this study from several hospitals in China. Clinicopathological features of patients with HNPCC were compared between the patients with suspected HNPCC and sporadic colorectal cancer.

RESULTSOne hundred and sixty-seven individuals from 31 families met the Amsterdam criteria. The average age was 48.6 (22-78) years old. There were 43 cases (31.9%) with ascending colon cancer and 52 cases (38.5%) with rectal cancer. The 3-, 5-, 10- years survival rate was 70.3%, 49.9% and 39.7% respectively. The incidence of multiple primary neoplasms was 20.4% .

CONCLUSIONSChinese HNPCC is characterized by early disease onset. Rectal cancer and ascending colon cancer are the first and the secondly common cancer for Chinese HNPCC. Gastric cancer is the most common parenteral cancer in Chinese HNPCC families.

Adult ; Aged ; Asian Continental Ancestry Group ; China ; epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis ; epidemiology ; genetics ; pathology ; Female ; Humans ; Incidence ; Male ; Middle Aged ; Prognosis ; Survival Rate ; Young Adult

OBJECTIVETo investigate the prevalence of obesity and distribution of body mass index (BMI) in school children of four ethnic groups in Urumqi, Xinjiang, China.

METHODSA total of 55508 school children of Han, Hui, Uygur and Kazak nationalities aged 8-18 years were selected by a cluster sampling from a districts of Urumqi City for anthropometric measurement and demographic survey. Prevalence of obesity and overweight and distribution of body mass index (BMI) by gender, age, and nationality were analyzed and compared. Cutoff points of BMI for defining obesity and overweight were based on the proposal set by the Working Group on Obesity in China (WGOC) to assess age-, gender- and nationality-specific prevalence of obesity and overweight.

RESULTSPrevalence of obesity was 5.34%, 6.78%, 3.39 %, and 1.22% for boys and 2.61%, 1.83%, 1.78%, and 1.40% for girls of Han, Hui, Uygur and Kazak nationalities, respectively. Prevalence of obesity tended to decrease with age overall, whereas that of overweight increased with age in Han children.

CONCLUSIONSPrevalence of obesity in school children in Urumqi varies with their nationalities and is lower than that of an average national level and a level of western countries. Obesity is more prevalent in boys than in girls of Urmuqi overall, which is just the opposite in Kazak children. Han boys and Hui girls have the highest prevalence of obesity and Kazak boys and girls have the lowest ones. Prevalence of obesity decreases with age, but that of overweight shows a different trend.

Adolescent ; Body Mass Index ; Child ; China ; epidemiology ; Female ; Humans ; Male ; Obesity ; ethnology ; Prevalence ; Sex Factors

This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.

OBJECTIVETo study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD.

METHODSAcylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free carnitine (C0) levels lower than 10 μmol/L as well as their parents.

RESULTSIn the acylcarnitine profile analysis, a C0 level lower than 10 μmol/L was found in 10 neonates, but C0 level was not reduced in their mothers. The 10 neonates had 10 types of mutations at 20 different sites in the SLC22A5 gene, which included 4 previously unreported mutations: c.976C>T, c.919delG, c.517delC, and c.338G>A. Bioinformatics analysis showed that the four new mutations were associated with a risk of high pathogenicity.

CONCLUSIONSTandem mass spectrometry combined with SLC22A5 gene sequencing may be useful for the early diagnosis of PCD. Identification of new mutations enriches the SLC22A5 gene mutation profile.

Cardiomyopathies ; diagnosis ; genetics ; Carnitine ; deficiency ; genetics ; Computational Biology ; Genetic Counseling ; Humans ; Hyperammonemia ; diagnosis ; genetics ; Infant, Newborn ; Muscular Diseases ; diagnosis ; genetics ; Mutation ; Solute Carrier Family 22 Member 5 ; genetics ; Tandem Mass Spectrometry

This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis for blood showed an elevated plasma level of acylcarnitine, which suggested CPT II deficiency. The genomic DNA was extracted from peripheral blood of the patient and her parents. Five exon coding regions and some intron regions at the exon/intron boundaries of the CPT2 gene were analyzed by PCR and Sanger sequencing. Amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of CPT2 gene mutation. Sanger sequencing results showed that two mutations were identified in the CPT2 gene of the proband: c.886C>T (p.R296X) and c.1148T>A (p.F383Y), which were inherited from the parents; the second child of the mother inherited the mutation of c.886C>T (p.R296X) and showed normal acylcarnitine spectrum and normal development after birth. It is concluded that the analysis of CPT2 gene mutations in the family suggested that the proband died of CPT II deficiency and that the identification of the mutations was helpful in prenatal diagnosis in the second pregnancy.
Carnitine O-Palmitoyltransferase ; deficiency ; genetics ; Female ; Humans ; Infant ; Metabolism, Inborn Errors ; diagnosis ; genetics ; Mutation ; Prenatal Diagnosis

A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level. The organic acid analysis of urine by gas chromatography-mass spectrometry showed significantly increased levels in isovaleryl glycine and 3-hydroxyisovaleric acid. Homozygous mutations (c.1208A>G, p.Tyr403Cys) in the IVD gene were identified in the patient. His parents were heterozygous carriers. After the treatment with low-leucine diets and L-carnitine for 3 days, the patient showed a significant improvement in symptoms, but he died one week later. It is concluded that the neonates with pneumonia and metabolic decompensation of unknown etiology should be screened for genetic metabolic disease.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Humans ; Infant, Newborn ; Isovaleryl-CoA Dehydrogenase ; deficiency ; genetics ; Male ; Mutation ; Pancytopenia ; etiology