The aim of study was to detect mutation of tyrosine domain of c-kit gene in mastocytosis using denaturing high performance liquid chromatography technique, and to investigate the significance of this gene mutation in diagnosis and therapy of mastocytosis. Genomic DNA was obtained from bone marrow or peripheral blood leukocytes using the phenol/chloroform method from 7 mastocytosis patients. PCR was performed with AmpliTaq Gold DNA polymerase and 100 ng genomic DNA to amplify the entire coding sequence and exon-intron boundaries of c-kit exon 17 approximately exon 19. Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on a WAVE DNA Fragment Analysis System. Each PCR product was mixed with an equal quantity of amplified human placental DNA (served as normal control) and was denatured at 95 degrees C for 5 minutes, followed by slowly cooling down to room temperature by 1.5 degrees C per minute to allow heteroduplexes formation. All the conditions for the DHPLC analysis, including melting temperature and buffer gradients were determined using the Transgenomic software Navigator. Samples with extra peaks or with different peak form on DHPLC were directly sequenced using the BigDye Terminator Cycle Sequencing Reaction kit and ABI 3100 Genetics Analyser. The results showed that DHPLC revealed an aberrant peak in one patient in exon 17 and the D816V mutation was identified by direct sequencing. The other two patients had an extra peak for exon 18/19 and direct sequencing revealed a conservative sequence change (L862L) within exon 18. It is concluded that denaturing high performance liquid chromatography is a high efficiency and reliable technique for mutation detection of c-kit gene and the detection results would be helpful for the selection of therapy in mastocytosis.
Adult ; Aged ; Base Sequence ; Chromatography, High Pressure Liquid ; methods ; Chromosomes, Human, Pair 4 ; genetics ; Humans ; Mastocytosis ; genetics ; Middle Aged ; Molecular Sequence Data ; Mutation ; genetics ; Proto-Oncogene Proteins c-kit ; genetics

OBJECTIVETo investigate diagnostic values of the detection of TMPRSS2-ERG gene fusion in metastatic prostate cancer.

METHODSA total of 32 fine needle aspiration (FNA) specimens of metastatic prostate carcinomas were retrieved from the pathology files at MD Anderson Cancer Center. The metastatic sites included the pelvic and remote lymph nodes, liver, bone, and thyroid gland. Immunohistochemical staining for PSA, PAP, synaptophysin, chromogranin A was performed. TMPRSS2-ERG gene fusion was evaluated on sections of cell blocks by fluorescence in situ hybridization (FISH) using ERG gene break-apart probes.

RESULTSThe mean age of the patients was 67 years. Twenty-six patients had a previous history of prostatic adenocarcinoma, while 6 patients presented initially with metastasis. In 11 patients, the metastatic lesions showed characteristic features of small cell carcinoma (SCC) and were positive for synaptophysin (9/9), chromogranin A (7/8), but negative for prostatic specific antigen (7/7). FISH analysis demonstrated a rearrangement of ERG gene in 10 of 32 cases (31.3%), and the rearrangement was associated with deletion of the 5' ERG gene in 6 cases. In addition, the copy number of ERG rearrangement gene locus was increased in 8 cases. Among the 11 cases with SCC features, a rearrangement of ERG gene was present in 5 cases, of which a deletion of the 5' ERG gene and increased copy number were seen in 3 cases.

CONCLUSIONSTMPRSS2-ERG gene fusion can be evaluated in FNA specimens of metastatic prostate cancer. Metastatic prostate cancers have a high prevalence of TMPRSS2-ERG gene fusion along with a frequent copy number increase of ERG gene. TMPRSS2-ERG gene fusion persists in metastatic prostate cancers and even in those with poorly differentiated SCC features. Therefore, an identification of the TMPRSS2-ERG gene fusion may be used to establish the prostatic origin of metastasis.

Acid Phosphatase ; Adenocarcinoma ; genetics ; metabolism ; pathology ; secondary ; surgery ; Aged ; Aged, 80 and over ; Biopsy, Fine-Needle ; Carcinoma, Small Cell ; genetics ; metabolism ; pathology ; secondary ; surgery ; Chromogranin A ; metabolism ; Follow-Up Studies ; Gene Fusion ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Liver Neoplasms ; genetics ; metabolism ; pathology ; secondary ; surgery ; Lymphatic Metastasis ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; metabolism ; Prostate-Specific Antigen ; metabolism ; Prostatic Neoplasms ; genetics ; metabolism ; pathology ; surgery ; Protein Tyrosine Phosphatases ; metabolism ; Synaptophysin ; metabolism

OBJECTIVETo study the quantity of anti-R7V in individuals infected with HIV and AIDS patients and its relation with the progression of disease.

METHODSELISA and precipitation and other methods were used to investigate the quantity of anti-R7V in asymptomatic long-term survivors and AIDS patients.

RESULTSPositive rate and quantity of anti-R7V were higher in the HIV active ones and AIDS. It showed that the quantity and positive rate of anti-R7V were rather high in dissolving test.

CONCLUSIONSIt is strong suggestion for anti-R7V to obstruct the replication of virus by interfering the connection between HIV with CCR5 or CXCR4 and so it impossible HIV entering to CD4+ T cells.

Acquired Immunodeficiency Syndrome ; immunology ; Adolescent ; Adult ; Aged ; Child ; Female ; Follow-Up Studies ; HIV Antibodies ; blood ; HIV Infections ; immunology ; HIV Long-Term Survivors ; HIV-1 ; immunology ; Humans ; Male ; Middle Aged ; Receptors, CCR5 ; physiology ; Receptors, CXCR4 ; physiology

Humans ; Female ; Breast Neoplasms/metabolism* ; Gene Amplification ; In Situ Hybridization, Fluorescence ; Immunohistochemistry ; Receptor, ErbB-2/metabolism* ; Genes, erbB-2

OBJECTIVETo determine the risk factors involved in the typhoon episodes and to put forward and evaluate the intervention measures.

METHODSWe defined a confirmed injury case as: 'a person with fall,scalpel and stab, collision, drowning, injuries and trauma due to flying debris and building collapse, asphyxiation due to entrapment in collapsed buildings by typhoon from 0 am,August 12 to 6 pm, August 14 2004' and a death case as: 'a person with fall, scalpel and stab, collision, drowning, injuries and trauma due to flying debris and building collapse, asphyxiation due to entrapment in collapsed buildings by typhoon from 0 am, August 12 to 12 am, August 18 2004'. We investigated all hospitalized injured cases in ten hospitals and telephoned to those who were not hospitalized and the cases of death. We did case-control study with 1 pair versus 2 cases. 74 cases were selected in ten hospitals. The controls were neighbors of the controls matched by occupation, sex, village, and within 5 years of age without injury in this typhoon. We asked the cases and the controls on their alertness regarding typhoon and what actions taken when typhoon arrived.

RESULTSThere were 392 injury cases in all ten hospitals and 50 death cases. The attack rate of injury was 27.3 per 100 000. The fatal rate was 11.3% with the death rate 3.1 per 100 000. We investigated 209 injury cases and 31 death cases. The number of cases who were injured from 1 to 6 hours before typhoon landing accounted for 64.6% (155) of all cases. The peak of epidemic curve was 4 hours before the landing of typhoon. Data on the analysis of 74 cases and 148 controls revealed that 42% (31) of the cases were outside their homes before and during typhoon compared to 15% (22) of the controls (OR = 3.9, 95% CI: 1.9-7.7). Compared with 20% (30) control persons (OR = 17,95% CI: 4.2-68). 28% (21) cases did not receive the alert of typhoon before it arrived compared with 18% (27) control persons (OR = 3.3, 95% CI:1.3-8.6). 53% (39) of the cases did not pay attention to the alert of typhoon before typhoon arrived.

CONCLUSIONStaying outdoor, not receiving or did not take seriously about the alert of typhoon seemed to be the risk factors of injury by the typhoon episode, suggesting that the government should increase the emergency preparedness and to raise the awareness on risks associated with typhoon.

Cause of Death ; China ; epidemiology ; Cyclonic Storms ; Hospitalization ; Humans ; Risk Factors ; Wounds and Injuries ; epidemiology ; mortality

Purpose: The present international survey among healthcare providers aimed to collect data on theoretical knowledge and clinical practices in the diagnosis and management of cow’s milk protein allergy (CMPA) and lactose intolerance (LI) in infants. Methods: A global survey was conducted in several countries with diverse health care settings. The survey consisted of multiple-choice questions in 3 main domains: (1) understanding and clinical practices around CMPA and LI; (2) case scenarios; and (3) diseasespecific knowledge and potential educational needs. Results: Responses were available from 1,663 participants. About 62% of respondents were general practitioners or general pediatricians, and the remainder were pediatric allergists/ gastroenterologists (18%) or other health practitioners (20%). The survey identified knowledge gaps regarding the types of CMPA (IgE-mediated vs. non-IgE-mediated) and the clinical overlap with LI. The survey suggested diverse clinical practices regarding the use of hypoallergenic formulas, as well as misconceptions about the prebiotic benefits of lactose in extensively hydrolyzed formulas in non-breastfed infants with CMPA. Responses to the two case scenarios highlighted varying levels of awareness of the relevant clinical practice guidelines. While respondents generally felt confident in managing infants with CMPA and LI, about 80% expressed an interest for further training in this area. Conclusion The current survey identified some knowledge gaps and regional differences in the management of infants with CMPA or LI. Local educational activities among general and pediatric healthcare providers may increase the awareness of clinical practice guidelines for the diagnosis and treatment of both conditions and help improve clinical outcomes.

[摘 要] 目的：回顾分析真实世界多原发癌（MPC）的临床病理特征及传统治疗联合生物治疗诊疗策略，以期提高对MPC的诊治水平。方法：选取南京市第一医院肿瘤科及江苏省中医院普外科2016年1月2021年12月间收治的肿瘤患者的临床资料进行回顾性分析，所有患者经病理学检查确诊为恶性肿瘤，就MPC的发病率、病理特征、临床治疗及预后进行归纳分析。结果：总计收治2 550例恶性肿瘤患者中，筛选出MPC 24例，MPC的总体发生率为0.94%（24/2 550）；其中双重癌发生率为0.86%（22/2 550）、三重癌发生率为0.08%（2/2 550）。第二原发癌发病间隔时间在3年以内者有15例（占62.5%，15/24），在5年以内者有18例（占75%，18/24），最长间隔时间为30年。首发癌和第二原发癌均以消化系统肿瘤最常见，其次是呼吸系统肿瘤。经外科手术或放、化疗后的3年生存率为58.3%（14/24）、5年生存率为45.8%（11/24）。结论：通过对MPC 临床病例特征及传统治疗联合生物治疗诊疗策略的探讨，做到早期诊断（避免误漏诊），延长患者生存期、改善患者生活质量。

Chronic constipation (CC) may impact on quality of life. There is substantial patient dissatisfaction; possible reasons are failure to recognize underlying constipation, inappropriate dietary advice and inadequate treatment. The aim of these practical guidelines intended for primary care physicians, and which are based on Asian perspectives, is to provide an approach to CC that is relevant to the existing health-care infrastructure. Physicians should not rely on infrequent bowel movements to diagnose CC as many patients have one or more bowel movement a day. More commonly, patients present with hard stool, straining, incomplete feeling, bloating and other dyspeptic symptoms. Physicians should consider CC in these situations and when patients are found to use laxative containing supplements. In the absence of alarm features physicians may start with a 2-4 week therapeutic trial of available pharmacological agents including osmotic, stimulant and enterokinetic agents. Where safe to do so, physicians should consider regular (as opposed to on demand dosing), combination treatment and continuous treatment for at least 4 weeks. If patients do not achieve satisfactory response, they should be referred to tertiary centers for physiological evaluation of colonic transit and pelvic floor function. Surgical referral is a last resort, which should be considered only after a thorough physiological and psychological evaluation.
Asia ; Asian Continental Ancestry Group ; Colon ; Constipation ; Health Resorts ; Humans ; Pelvic Floor ; Physicians, Primary Care ; Primary Health Care ; Quality of Life ; Referral and Consultation ; Sprains and Strains

OBJECTIVE: Considering the different prevalence rates of diseases such as asthma and chronic obstructive pulmonary disease in Asians relative to other races, Koreans may have unique airway structure and lung function. This study aimed to investigate unique features of airway structure and lung function based on quantitative computed tomography (QCT)-imaging metrics in the Korean Asian population (Koreans) as compared with the White American population (Whites). MATERIALS AND METHODS: QCT data of healthy non-smokers (223 Koreans vs. 70 Whites) were collected, including QCT structural variables of wall thickness (WT) and hydraulic diameter (Dh) and functional variables of air volume, total air volume change in the lung (ΔVair), percent emphysema-like lung (Emph%), and percent functional small airway disease-like lung (fSAD%). Mann-Whitney U tests were performed to compare the two groups. RESULTS: As compared with Whites, Koreans had smaller volume at inspiration, ΔVair between inspiration and expiration (p < 0.001), and Emph% at inspiration (p < 0.001). Especially, Korean females had a decrease of ΔVair in the lower lobes (p < 0.001), associated with fSAD% at the lower lobes (p < 0.05). In addition, Koreans had smaller Dh and WT of the trachea (both, p < 0.05), correlated with the forced expiratory volume in 1 second (R = 0.49, 0.39; all p < 0.001) and forced vital capacity (R = 0.55, 0.45; all p < 0.001). CONCLUSION: Koreans had unique features of airway structure and lung function as compared with Whites, and the difference was clearer in female individuals. Discriminating structural and functional features between Koreans and Whites enables exploration of inter-racial differences of pulmonary disease in terms of severity, distribution, and phenotype.
Asian Continental Ancestry Group ; Asthma ; Continental Population Groups ; Female ; Forced Expiratory Volume ; Humans ; Lung ; Lung Diseases ; Phenotype ; Prevalence ; Pulmonary Disease, Chronic Obstructive ; Thorax ; Trachea ; Vital Capacity