1.Sequence analysis of STK11 gene in a patient with Peutz-Jeghers syndrome
Chengrang LI ; Ningyan GU ; Yumiao FENG ; Lin LIN
Chinese Journal of Dermatology 2010;43(1):47-48
Objective To analyze the STK11 gene mutation in a sporadic Chinese Datient with Peutz Jeghers syndrome(PJS)so as to provide a basis for the genetic diagnosis and counseling of PJS.Methods Whole blood samples were obtained from a female patient with PJS,her parents and sister.as well as from 100 unrelated,normal individuals as control.Genomic DNA was extracted,and the whole coding region of STK11 gene was amplified by PCR followed by direct sequencing.Results Molecular analysis revealed a novel het-erozygous mutation C73S in the patient,which resulted from the substitution of thymine(T)for adenine(A) at codon 217 in exon 1 of STK11 gene.However, the novel mutation was not found in unaffected family mem-bers or unrelated controls.Conclusion A novel missense mutation C73S,which may contribute to the devel-opment of PJS,is found in the patient.
2.Epidemiological Survey on the Infection of Paragonimus westermani in Jiangxi Province
Quru YAN ; Tao YAN ; Xianmin ZHOU ; Yousong LI ; Chunchao ZHU ; Linbo SHI ; Ximei MA ; Ningyan HU
Chinese Journal of Parasitology and Parasitic Diseases 1987;0(04):-
Objective To investigate Paragonimus westermani infection in the intermediate hosts and animal reservoivs in Jiangxi Province. \ Methods\ Two forest farms in Jingan and Wanzai Counties and one town in Yushan County of Jiangxi Province were selected as pilots for epidemiological and retrospective survey. The intermediate hosts (snails, crabs) and reservoir hosts(cat, dog, civet cat, wildcat, etc.) were collected and examined. Data on the changes of ecological environment and people's behaviors were also collected. \ Results \ The average infection rate in Semisulcospira libertina and Sinopotamon spp. was 0\^21% and 54\^3% respectively, and that of reservoir hosts was 5\^6%. Compared with those in 20 years ago, the infection rate in Sinopotamon spp. decreased considerably. \{Conclusion\}\ The three areas are still endemic for P.westermani with lower prevalence than before possibly due to the change of ecological environment.
3.Knowledge and attitude towards hierarchical medical system among patients in Beijing Xicheng district community health service centers
Yongfeng TIAN ; Ningyan LI ; Wei WANG
Chinese Journal of General Practitioners 2018;17(4):268-271
Objective To assess the knowledge and attitude towards hierarchical medical system among patients in Beijing Xicheng district community health service centers.Methods A questionnaire survey was conducted between July and August 2016,among randomly-selected patients who were visiting community health service centers in Beijing Xicheng district.Results A total of 2 770 patients were investigated.The percentage of patients who knew the hierarchical medical system was 62.2% (1 722/2 770).Logistic regression showed that the degree of knowledge was significantly correlated with the visit number in the recent year and the education levels of patients.The percentage of patients who had a positive attitude to the system was 89.5% (2 478/2 770).The main reasons for negative attitude to the system were "worry about the delay of treatment","inconvenience" and "fewer drugs in community health service centers" and "weak capacity of community health service centers".Logistic regression showed that the education level was negatively correlated with the attitude.In the case of mild illness,2,485 (89.7%) participants would chose "community health service center or service station".Conclusions The knowledge of hierarchical medical system among patients in community health institutions are moderately high,while most of them have positive attitude towards the system.The service capacity of community health service institutions should be further improved,and publicity should be strengthened to improve the awareness of hierarchical medical system among community residents.
4.Early outcome following emergency gastrectomy.
Ker Kan TAN ; Terence J L QUEK ; Ningyan WONG ; Kelvin K W LI ; Khong Hee LIM
Annals of the Academy of Medicine, Singapore 2012;41(10):451-456
INTRODUCTIONEmergency gastrectomy has been shown to be associated with poor morbidity and mortality rates. The aims of this study were to review the outcomes of emergency gastrectomy in our institution and to determine any factors that were associated with worse perioperative outcomes.
MATERIALS AND METHODSA retrospective review of all patients who underwent emergency gastrectomy for various indications from October 2003 to April 2009 was performed. All the complications were graded according to the classification proposed by Clavien and group.
RESULTSEighty-fi ve patients, median age 70 (range, 27 to 90 years), underwent emergency gastrectomy. The indications for the surgery included perforation, bleeding and obstruction in 45 (52.9%), 32 (37.6%) and 8 (9.4%) patients, respectively. The majority of the patients (n = 46, 54.1%) had an American Society of Anesthesiologists (ASA) score of 3. Partial or subtotal, and total gastrectomy were performed in 75 (88.2%) and 10 (11.8%) patients, respectively. Malignancy was the underlying pathology in 33 (38.8%) patients. The perioperative mortality rate was 21.2% (n = 18) with another 27 (31.8%) patients having severe complications. Twelve (14.1%) patients had a duodenal stump leak. The independent factors predicting worse perioperative complications included high ASA score and in perforation cases. Other factors such as malignancy, age and extent of surgery were not signifi cantly related. The presence of a duodenal stump leak was the only independent factor predicting mortality.
CONCLUSIONEmergency gastrectomy is associated with dismal morbidity and mortality rates. Patients with high ASA scores and perforations fared worse, and duodenal stump leak increases the risk of mortality.
Adult ; Aged ; Aged, 80 and over ; Emergencies ; Female ; Gastrectomy ; mortality ; Humans ; Logistic Models ; Male ; Middle Aged ; Multivariate Analysis ; Postoperative Complications ; epidemiology ; etiology ; Retrospective Studies ; Risk Factors ; Severity of Illness Index ; Stomach Diseases ; mortality ; surgery ; Treatment Outcome
5.Measurement and analysis of community health staffing standards
Delu YIN ; Huimin YANG ; Tao YIN ; Xiaoguo ZHENG ; Qianqian XIN ; Qi XU ; Ningyan LI ; Jiangong ZHAO ; Yali SHI ; Lihong WANG ; Bowen CHEN
Chinese Journal of Hospital Administration 2015;(4):307-310
Objective To measure the gap of community health staffing and establish new norms for community health facilities by means of the WHO Workload indicator of staffing need (WISN) method,for reference of the government in evaluation and decision making of community health staffing. Methods With Xicheng District of Beijing as an example,we collected data on community health staffing and calculated the total demand,measuring the total demand and supply,and gap or surplus in the staffing.Results in 2013,the demand of community health staffing was about 1 7.18 million standard equivalents in Xicheng,while the supply was 10.5 12 million.The WISN ratio was 0.67 for community health supply and demand,in which the ratio of physicians was close to 1,while that of nurses and public health workers was far below 1.850 extra community health staff was needed to reach the total of 2 602 persons.Conclusion The demand and supply of community health service in Xicheng District was seriously unbalanced,a huge gap featuring overstaffing of nurses and inadequate public health workers.This results from the enhancement of primary public health services and rising utilization of community healthcare services in recent years,which deserves high attention from government of all levels,by increasing the staffing of community health staffing standards.
6.Analysis of isodicentric Ph chromosomes in chronic myeloid leukemia blast crisis.
Qian LI ; Xiaoji LIN ; Ying LIN ; Rongxin YAO ; Wu HUANG ; Handong MEI ; Jian GONG ; Hui CHEN ; Ningyan TENG
Chinese Journal of Medical Genetics 2017;34(1):85-88
OBJECTIVETo explore the genetic and clinical characteristics of isodicentric Ph chromosomes [idic(Ph)] in lymphoid blast crisis of chronic myeloid leukemia (CML-BLC).
METHODSBone marrow aspirates of 2 patients with CML-BLC were analyzed by R banding after 24 hours of culturing. Genomic copy number variations (CNV) were analyzed by single nucleotide polymorphism array (SNP array) in case 1. The results were confirmed with fluorescence in situ hybridization (FISH). Variations of acute lymphoblastic leukemia-related genes including CDKN2A/AB and PAX5 were detected by multiplex ligation-dependent probe amplication (MLPA).
RESULTSDeletions and duplications on derivative chromosome 9 detected by FISH were confirmed by SNP array analysis. The distances between the BCR/ABL fusion signals on the idic(Ph) chromosomes in the two patients have differed greatly. The idic(Ph) in the second patient was supposed to be formed by two Ph chromosomes joined at their q terminals, where as the idic(Ph) in the first patient have been shown to be fused at the satellite regions of their p arms.
CONCLUSIONThe idic(Ph) chromosomes presented in CML-BLC may predict resistance to Imatinib and response to Dasatinib.
Blast Crisis ; diagnosis ; genetics ; therapy ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 9 ; genetics ; DNA Copy Number Variations ; Fatal Outcome ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; therapy ; Male ; Middle Aged ; Philadelphia Chromosome