Organic anion transporter 2 (OATP2) is an uptake transporter located on the basolateral membrane of human hepatocytes. It mediates the transportation of various organic solutes including bilirubin and impacts bilirubin metabolism. It is encoded by the gene of solute carrier organic anion transporter family member 1B1 and the gene variants that inhibit hepatic bilirubin uptake function may reduce the normal functional level of bilirubin elimination and result in neonatal hyperbilirubinemia. In recent years, some studies have indicated that variants of SLCO1B1 are associated with neonatal jaundice. This article reviews the research advance in SLCO1B1 with respect to the structure and function and the relationship between SLCO1B1 mutations and neonatal jaundice.
Glucosephosphate Dehydrogenase Deficiency ; genetics ; Humans ; Infant, Newborn ; Jaundice, Neonatal ; genetics ; Organic Anion Transporters ; genetics ; Polymorphism, Genetic ; Solute Carrier Organic Anion Transporter Family Member 1b1 ; genetics

OBJECTIVENeonatal unconjugated hyperbilirubinemia is one of the most common conditions encountered by the practicing pediatricians. Although it is usually self-limited and benign, the condition is of importance because of the rare instances in which severe hyperbilirubinemia can lead to bilirubin encephalopathy or kernicterus. The uridine diphosphate-glucuronosyl transferase 1A1 (UGT 1A1) gene controls bilirubin conjugation by determining the structure of the enzyme glucuronosyltransferase, which is synthesized in the hepatocyte. In the recent years much has been learned about the relationship between UGT 1A1 gene mutation and neonatal hyperbilirubinemia. This study aimed to investigate the roles of UGT 1A1 gene mutation in the development of neonatal hyperbilirubinemia in Guangxi.

METHODSA total of 73 cases with hyperbilirubinemia and 31 healthy neonates were enrolled. UGT 1A1 G71R genotypes were identified by the (amplification refractory mutation system, ARMS) and direct sequencing method in all the neonates. To analyze the incidence of bilirubin encephalopathy, the peak (total serum bilirubin, TSB) concentration after 72 hours of age, and the possibility of TSB > 20 mg/dl of each group.

RESULTS(1) The frequencies of allele G71R were 0.1915 in this study, 0.2329 in hyperbilirubinemia group vs. 0.097 in healthy groups. The allele gene frequency of G71R in neonatal hyperbilirubinemia was higher than that in the normal group (P < 0.05). (2) Homozygous neonates had higher possibility to develop bilirubin encephalopathy and higher TSB concentration 72 hours after birth (28.57%, 23.12 ± 4.58) than the normal group (0%, 17.68 ± 2.69). The difference between the former two was significant (P < 0.001). (3) The TSB of the 5 neonates was > 20 mg/dl in G71R homozygous type, the odds ratio and 95%CI were 7.955 (1.349, 46.899).

CONCLUSION(1) G71R mutation gene was associated with neonatal jaundice in Guangxi region. (2) The possibility of TSB > 20 mg/dl in G71R homozygous was higher than those of the wild-type. (3) The incidence of bilirubin encephalopathy and TSB concentration after 72 hours of age for neonates who were homozygous to G71R gene were higher than the wild-type.

Case-Control Studies ; China ; epidemiology ; Genotype ; Glucuronosyltransferase ; genetics ; Humans ; Hyperbilirubinemia, Neonatal ; epidemiology ; genetics ; Infant, Newborn ; Mutation

Adult ; Appendiceal Neoplasms ; immunology ; pathology ; Dendritic Cell Sarcoma, Follicular ; immunology ; pathology ; Humans ; Immunohistochemistry ; Male ; Proto-Oncogene Proteins c-kit ; analysis ; Receptors, Complement 3b ; analysis

OBJECTIVETo study the correlation between glucose-6-phosphate dehydrogenase (G-6-PD) activities and three common mutations of G-6-PD gene G1388A, G1376T and A95G and investigate the effects of G-6-PD gene mutations on neonatal jaundice in Nanning, Guangxi.

METHODSOne hundred and twenty-four neonates from Nanning, Guangxi, with hyperbilirubinemia were enrolled. The ARMS-PCR and PCR/REA methods were used to determine G-6-PD gene mutations. G-6-PD activities were measured using the NBT method. The incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth were compared between the neonates with different genotypes and between the G-6-PD mutation and normal groups. The risk of blood serum bilirubin >340 mumol/L was evaluated by logistic regression analysis.

RESULTSOf the 124 cases, gene mutations were found in 37 cases, including G1388A (n=20), G1376T (n=14), A95G (n=4) and G1388A+A95G (n=1). Five cases (25%) showed normal G-6-PD activities in the G1388A gene mutation group and 4 (29%) had normal G-6-PD activities in the G1376T G1388A gene mutation group. All of 4 cases of A95G G1388A gene mutation showed a deficiency of G-6-PD activities. There were no significant differences in the incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth between the G1388A and G1376T G1388A gene mutation groups. The incidence of acute bilirubin encephalopathy, the peak bilirubin concentration 72 hrs after birth and the risk of serum bilirubin >340 micromol/L in the G-6-PD mutation group were not different from the normal group.

CONCLUSIONSG1388A, G1376T and A95G are common G-6-PD gene mutations in Nanning, Guangxi. The false negative results may be received when the NBT method is used for diagnosis of G-6-PD deficiency. There are similar effects on the incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth between different gene mutation groups. G-6-PD gene mutations alone may not contribute to the development of acute bilirubin encephalopathy and the changes of peak bilirubin concentration 72 hrs after birth and the risk of serum bilirubin >340 micromol/L.

Bilirubin ; blood ; Encephalitis ; etiology ; Female ; Genotype ; Glucosephosphate Dehydrogenase ; genetics ; metabolism ; Glucosephosphate Dehydrogenase Deficiency ; genetics ; Humans ; Infant, Newborn ; Jaundice, Neonatal ; blood ; genetics ; Male ; Mutation

Objective · To investigate the prevalence of smoking and awareness of smoking hazards in a community-based elderly population in Changning District, Shanghai. Methods · A total of 1809 subjects were randomly selected from 18 communities based on the chronic non-communicable diseases cohort in an elderly population aged 65 and over in Changning District, Shanghai. Information on smoking status, health condition and awareness of smoking hazards were obtained through face to face interviews. Chi-square tests and non-conditional Logistic regression analyses were used to evaluate the risk factors of the awareness of smoking hazards and current smoking status. Results · The overall prevalence of current smoking was 15.6% among the investigated elderly population. Smoking prevalence was significantly higher in men than that in women (30.0% vs 2.1%, P=0.000). Also, it was higher in the men aged 65-69 than that in those aged 70 and over (34.3% vs 20.4%, P=0.000). The participants with middle school education had the highest prevalence (19.1%) in the population. Overall, the proportion of participants who knew "smoking causes heart disease" "smoking causes stroke"and "smoking causes cancer" was 45.1%, 43.3% and 64.4%, respectively. Among the participants, 36.4% knew all the three smoking hazards. With the confounders such as age and gender being adjusted, current smoking behavior was associated with the participants' awareness of smoking hazards (OR=0.74,P=0.000). Conclusion · Currently, the awareness of smoking hazards is generally low in Shanghai elderly population, especially in those with lower education level and current smoking behavior. More targeted educational interventions are necessary in specific population.

Objective:To explore an efficient method of practical teaching for ultrasonography.Methods:There were 41 five-year clinical medical students intending to learn ultrasonography in the spring semester of 2019. After completing common theory courses, they were divided into two groups randomly for practice courses, which consisted of two modules: Lecture and Hands-on. Lecture included case-based learning while Hands-on included pictures reading. Each group followed different sequence of modules. There were assessments of ultrasound theory, practice or the combination of both before, during and after practice courses.Results:The theory and practice ability of each group improved significantly after practice courses ( P < 0.05). Moreover, the group whose Hands-on module preceded Lecture module got the higher scores in the evaluation of the combined ability of theory and practice ( P < 0.05). Conclusion:The theory was as important as the practice during the clerkship of ultrasonography. The clinical practical teaching pattern that Hands-on precedes Lecture has achieved better teaching effects.

Objective: To explore the mechanism of herbal cake-partitioned moxibustion in Crohn disease (CD) treatment by observing the effect of herbal cake-partitioned moxibustion on protein expressions of colonic M2 macrophage marker CD206, AMP-activated protein kinase (AMPK) and tuberous sclerosis complex (TSC) 2. Methods: Twenty-six specific pathogen free male rats were randomly divided into a normal group, a model group and a herbal cake-partitioned moxibustion group. The CD model was prepared by enema with the mixture of 5％ (W/V) 2,4,6- trinitrobenzene sulfonic acid (TNBS) and 50％ ethanol at 2:1 (volume ratio). After the model was successfully prepared, rats in the herbal cake-partitioned moxibustion group received herbal cake-partitioned moxibustion at Qihai (CV 6) and bilateral Tianshu (ST 25). Hematoxylin-eosin (HE) staining was used to observe the histopathological changes of rat colon; immunohistochemical technique was used to detect the expression of colonic CD206 protein; Western blot, immunofluorescence, and real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) technologies were used to detect the protein and mRNA expressions of colonic AMPK and TSC2. Results: Compared with the normal group, rats in the model group showed damaged colonic mucosa, missing of the epithelial layer, thickened submucosa, vascular proliferation, massive infiltration of monocytes and lymphocytes, and cracked ulcers that reached the muscle layer. Rats in the herbal cake-partitioned moxibustion group showed reduced intestinal inflammation and healing intestinal epithelium ulcers. Compared with the normal group, rat colonic CD206 protein expression, and the protein and mRNA expressions of colonic AMPK and TSC2 were decreased in the model group (all P<0.01); compared with the model group, rat colonic CD206 protein expression was increased (P<0.01), as well as the protein and mRNA expressions of AMPK and TSC2 in the herbal cake-partitioned moxibustion (all P<0.05). Conclusion: Herbal cake-partitioned moxibustion can reduce intestinal inflammation in CD rats, increase colonic CD206 protein expression, and up-regulate the protein and mRNA expressions of colonic AMPK and TSC2.

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.

Objective To summarize the treatment principle of acupuncture-moxibustion in treating Bi-impediment syndrome from the application rules of meridians and acupoints in Ming-Qing Dynasties by sorting out and analyzing the Chinese medicine literatures about acupuncture-moxibustion for Bi-impediment syndrome in Ming-Qing Dynasties, for providing literature evidence for basic and clinical research of Bi-impediment syndrome.Method Via electronic retrieval ofZhong Hua Yi Dian (Zhen Jiu Tui Na Lei) (Chinese Medical Encyclopedia,Chapter of Acupuncture-Moxibustion and Tuina), the data related to Bi-impediment syndrome in Ming-Qing Dynasties were extracted to establish a database categorized by meridians and acupoint features in Excel for analysis.Result There were 267 items of records about acupuncture-moxibustion in treating Bi-impediment syndrome in Ming-Qing Dynasties, involving the fourteen ordinary meridians, and 131 acupoints including 5 extra points; the frequency of using the Gallbladder Meridian ranked the top, followed by the Large Intestine Meridian; points from the Bladder Meridian were predominant, followed by the Gallbladder Meridian; there were 28 commonly-used acupoints (frequency>5), which were Quchi (LI 11, 26 times), Huantiao (GB 30, 23 times), Hegu (LI 4, 22 times), Chize (LU 5, 16 times),Yanglingquan (GB 34, 15 times), and Weizhong (BL 40, 14 times). Of the specific acupoint, the five Shu points were most frequently used, with a frequency of 217.Conclusion In the treatment of Bi-impediment syndrome with acupuncture-moxibustion, doctors in Ming and Qing Dynasties selected yang meridians more often than yin meridians, and Gallbladder, Large Intestine and Bladder Meridians had comparatively higher frequencies; regarding the application of acupoints, the specific acupoints were often used, especially the five Shu acupoints. The study results provide reference for acupoint selection in the treatment of Bi-impediment syndrome with acupuncture-moxibustion.

OBJECTIVETo study the impact of various human leukocyte antigen (HLA) high resolution typing mismatching of donor-recipient pairs on prognosis of unrelated donor hematopoietic stem cell transplantation.

METHODS835 donor-recipient pairs of CMDP data from 2005 to 2010 were analyzed retrospectively. HLA-A, B, C, DRB1 and DQB1 typing were performed using SBT, SSOP and SSP methods. The diseases involved in acute myeloid leukemia (AML) (n = 288), acute lymphoid leukemia (ALL) (n = 227), chronic myeloid leukemia (CML) (n = 187), myelodysplastic syndrome (MDS) (n = 52), non-hodgkin's lymphoma(NHL) (n = 25), aplastic anemia(AA) (n = 42) and thalassemia (n = 14). Of 835 donor-recipient pairs, 362 were completely matched, 159 had a mismatch for a single allele, 125 had a mismatch for a single antigen, 95 had mismatched for both single allele and single antigen, 29 were mismatched at double allele, 20 at double antigen, 45 at multiple allele and antigen. The follow-up assessment was completed before March 2011.

RESULTSHLA-matched pairs had higher overall survival (OS) than HLA-mismatched pairs (79.83% vs 73.15%), but there was no statistically significant differences (P > 0.05). HLA mismatch for a single allele plus a single antigen was a significantly risk factor for OS, disease free survival (DFS) and transplant-related mortality (TRM). The OS from high to low in different diseases were thalassemia, AA, CML, MDS, AML, NHL, and ALL. OS of HLA locus mismatch were DRB1 (94.4%), DQB1 (83.3%), B (75%), A (74.4%) and C (71.4%), respectively. OS of single allele mismatch at HLA locus from high to low were DRB1, C, A, B and DQB1.HLA-A, B, C locus mismatch were statistically significantly associated with lower OS and grade II-IV acute GVHD compared with HLA-matched pairs (P < 0.05). The donor-recipient pairs with HLA-B*15:01/B*15:05, DRB1*12:01/DRB1*12:02, C*04:01/C*03:04, DQB1*03:02/DQB1*03:03 alleles mismatch were given priority. But the donor-recipient pairs with HLA-B*39:01/B*39:05, C*15:02/C*14:02, C*08:01/C*03:04, C*07:02/C*15:02 alleles mismatch were risk factors for influence of OS and aGVHD.

CONCLUSIONThe high resolution typing for HLA-A, B, C, DRB1, DQB1 can be identified nonpermissive mismatch, which is beneficial for the selection of a suitable donor improves survival on unrelated donor HSCT.

HLA Antigens ; genetics ; immunology ; Hematopoietic Stem Cell Transplantation ; Histocompatibility Testing ; Humans ; Leukemia, Myeloid, Acute ; immunology ; surgery ; Lymphoma, Non-Hodgkin ; immunology ; surgery ; Myelodysplastic Syndromes ; immunology ; surgery ; Prognosis ; Retrospective Studies ; Unrelated Donors