Genetic characteristics and survival analysis of 27 cases of juvenile myelomonocytic leukemia / 中华儿科杂志

Objective: To investigate the genetic and genomic profiling of juvenile myelomonocytic leukemia (JMML) and factors affecting its survival rate. Methods: Clinical characteristics, cytogenetics, molecular biology results and survival status of children with 27 JMML cases admitted to the Hematology Department of Children's Hospital, Capital Institute of Pediatrics from December 2012 to December 2021 were analyzed retrospectively, and the outcomes of the children were followed up. Kaplan-Meier method was used for survival analysis. Univariate analysis was used for analyzing factors affecting the overall survival (OS) rates of patients who received hematopoietic stem cell transplantation (HSCT). Log-Rank test was used for comparison of survival curves. Results: Among 27 JMML cases, there were 11 males and 16 females. The age of disease onset was 28 (11,52) months. There are 20 cases of normal karyotype, 4 cases of monosomy 7, 1 case of trisomy 8,1 case of 11q23 rearrangement and 1 case of complex karyotype. A total of 39 somatic mutations were detected.Those involved in RAS signal pathway were the highest (64%(25/39)), among which PTPN11 mutation was the most frequent (44% (11/25)). A total of 17 cases (63%) received HSCT, 8 cases (30%) did not receive HSCT, and 2 cases (7%) lost follow-up. For children receiving transplantation, the follow-up time after transplantation was 47 (11,57) months. The 1-year OS rate of high-risk transplantation group (17 cases) and high-risk non transplantation group (6 cases) was (88±8)% and (50±20)% respectively, with a statistically significant difference (χ2=5.01, P=0.025). The 5-year OS rate of the high-risk transplantation group was (75±11)%. The survival time of those who relapsed or progressed to acute myeloid leukemia after transplantation was significantly shorter than that of those who did not relapse (χ2=6.80, P=0.009). The OS rate of patients with or without PTPN11 mutation was (81±12) % and (67±19)% respectively (χ2=0.85, P=0.356). Conclusions: The main pathogenesis involved in JMML is gene mutation related to RAS signaling pathway, and the most common driver gene of mutation is PTPN11. Allogeneic HSCT can significantly improve the survival rate of high-risk JMML patients. The recurrence or progression after transplantation was related to poor prognosis.

Different combination of drugs regarding the damage on organs targeting salt sensitivity or non-salt-sensitive hypertension / 中华流行病学杂志

Objective To study the damage on organs from salt sensitivity hypertension or non-salt-sensitive hypertension and the selection of drug combination.Methods 120 hypertensive patiems including 60 cases salt-sensitive (SS) and 60 non-salt-sensitive (NSS) groups were selected in our hospital and their salt load tested.These two groups were randomly divided into two groups,each group with 30 patients,one was given felodipine and perindopril and the others were given indapamide sustained release tablets and peridopril to facilitate the 12-week treatment.Before and after the treatment,patients were tested for physiological indicators,such as sitting blood pressure,24-hour ambulatory blood pressure,insulin resistance index,comparing changes of various sub-index etc.Results Significantly different were seen in indices as fasting blood glucose and serum creatinine (P＜ 0.01),fasting insulin,left ventricular mass index,urinary albumin,body mass index,insulin resistance indices,while between the SS group and the NSS group(P＜0.05).In the SS group,when patients with various sub-indicators were using perindopril combined with indapamide treatment,the related detected indicators tended to be normal and with statistically significant differences (P＜0.05).In the NSS group,those related indexes also tended to be more normal when using felodipine combined with perindopril.However,there were statistically significant differences between the two groups (P＜0.05).Conclusion On SS hypertensive patients with target organ damages,perindopril and indapamide seemed to be more effective in NSS patients,indicating that the use of perindopril and felodipine combination,seemed to be more suitable.

Higher concentration of CO₂ and 37°C stabilize the less virulent opaque cell of Candida albicans / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Candida albicans (C. albicans) strains can spontaneously switch at a very low frequency from white to opaque phase. The ability to switch reversibly between white and opaque phenotype and contributes to the pathogenicity of C. albicans. White and opaque switching can be induced by various environmental signals. Previous study showed that opaque cells switch en masse to white when transferred in vitro to 37°C, the temperature of their animal host. The objective of the present study was to determine the effect of different concentration of carbon dioxide and temperature on white-opaque switching, and to determine the different anti-candida killing activity of white and opaque form by human monocyte-macrophage cell line THP-1.</p><p><b>METHODS</b>White-opaque switching and opaque-white switching were assayed. Modified Lee's medium supplemented with phloxine B was used to detect white and opaque forms of C. albicans under 0.03% CO2 at 25°C, 0.03% CO2 at 37°C and 5% CO2 at 37°C. Growth curve of C. albicans was monitored using OD value at 630 nm simultaneously. White and opaque forms of C. albicans and THP-1 cells were cocultured at ratio of 1:10. Colony serial dilutions were used to assay for intracellular candidacidal activity. MTT assay was used to measure the extracellular candidacidal activity.</p><p><b>RESULTS</b>Phenotype switching was successfully induced in vitro in all three strains of C. albicans. When evaluating white to opaque switching, opaque colony proportion of all colonies was 0.572 ± 0.087, 0.920 ± 0.030 and 0.985 ± 0.026 exposure of white cells to 0.03% CO2 at 25°C, 0.03% CO2 at 37°C and 5% CO2 at 37°C. When evaluating opaque to white switching, opaque colony proportion of all colonies was 0.600 ± 0.114, 0.983 ± 0.003 and 0.998 ± 0.003 exposure of white cells to 0.03% CO2 at 25°C, 0.03% CO2 at 37°C and 5% CO2 at 37°C. No significant difference of white or opaque form growth rate was found among three conditions (P > 0.05). THP-1 mediated extracellular anti-candida activity in white form was (79.80 ± 3.71)% and (56.28 ± 19.12)% at different dilution ratio, which were significantly lower than that in opaque form (100%, P < 0.01). THP-1 mediated intracellular anti-candida activity in white form ((62.98 ± 5.02)%) was significantly lower than that in opaque form ((87.07 ± 1.80)%, P < 0.01).</p><p><b>CONCLUSIONS</b>Our results showed that opaque form is more vulnerable and less virulent than that in white form. It suggested that higher concentration of CO2 and 37°C in host niches stabilize the less virulent opaque cell of C. albicans, which might have implications for pathogenesis, commensalism and mating.</p>

Outcome analysis of screening on high arsenic water source in Jingzhou City, Hubei Province / 中国地方病学杂志

Objective To survey the arsenic content of drinking water in Jingzhou City, to provide basis for prevention and control of endemic arsenic disease. Methods According to historical data, the .arsenic content of water was detected in 357 villages from 6 counties of Jianglin, Songzi, Gongan, Shishou, Jianli, Honghushi in Jinzhou City in 2007 and 2008, The past have been found to have high arsenic water villages, villages known to have high concentration of arsenic were put into census. Villages not found to have high-arsenic wells were sampled 10 percent of the whole water resources at five directions of east, west, south, north and the center. Using sampling investigation, water arsenic was determined by half -quantitative fast reagent kit. All samples of water with arsenic exceeding the standard were re-determined using silver diethyl dithiocarbamate using silver diethyl dithiocarbamate colorimetric mothod. Survey on the disease was carried out in the villages with arsenic exeeeding the standard. Results All 6074 water samples was inspected. Arsenic in 210 samples outnumbered 0.05 mg/L, 51 natural villages were high arsenic areas;The maximum level of arsenic content in drinking water was 0.7 mg/L 3.2% (152/4784) of the wells no deeper that 30 meters and 4.9%(58/1184) between 30 to 100 m had arsenic exceeding the standard The water arsenic content was normal when the wells was deeper that 100 m. The abnormal percentages of water arsenic was related with the depth of wells with a significant difference(χ2 = 12.29,P < 0.01). Medical examination 84 064 residents in 51 villages having high arsenic water 31 neighboring villages was made, No Patients was found suffering from endemic arsenic poisoning. Conclusions High arsenic source has been found in Jingzhou City ,but no endemic arsenic poisoning patient in Jingzhou City. It is suggested that necessary preventive measures should be taken in high arsenic area, low-arsenic water should be spotted or high arsenic water improved. Moreover, wells should be drilled for more than 100 meters or more in depth.

Insoluble beta-glucan from the cell wall of Candida albicans induces immune responses of human THP-1 monocytes through Dectin-1 / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>beta-glucan is the major structure component of Candida albicans (C. albicans) cell wall. It has been demonstrated that Dectin-1 as the principal C-type lectin pattern-recognition receptor (PRR) can recognize fungal beta-glucan and induce immune responses. In this study, we sought to clarify whether insoluble beta-glucan from the cell wall of C. albicans (CaIG) could induce immune responses in human THP-1 monocytes (a human acute monocytic leukemia cell line) and to determine the underlying mechanisms.</p><p><b>METHODS</b>Human THP-1 monocytes were challenged with CaIG in vitro. The mRNA expression of Dectin-1, Toll-like receptors (TLR2), proinflammatory cytokine (TNF-alpha) and chemokine (IL-8) was assayed by real-time reverse transcription polymerase chain reaction (RT-PCR). The secretion of TNF-a and IL-8 were measured by enzyme-linked immunosorbent assay (ELISA). H(2)O(2) release was determined by microplate fluorescent assay. Western blotting was used to analyze IkappaB-a phosphorylation and degradation.</p><p><b>RESULTS</b>Exposure of THP-1 monocytes to CaIG led to increased gene expression and secretion of TNF-alpha and IL-8. CaIG induced H(2)O(2) release in a time-dependent manner. CaIG hydrolyzed with zymolyase failed to induce gene expression and secretion of TNF-alpha, IL-8 and H(2)O(2) release. CaIG up-regulated the mRNA of Dectin-1, whereas the mRNA level of TLR2 was not altered. THP-1 monocytes challenged with CaIG resulted in the activation of NF-kappaB in a time-dependent manner. Dectin-1 inhibitor laminarin blocked the CaIG-induced production of TNF-alpha and H(2)O(2) in THP-1 monocytes, but no such effect was observed in pretreatment with anti-TLR2 neutralizing antibody and the LPS inhibitor (polymyxin B).</p><p><b>CONCLUSION</b>CaIG may play a role in activation of immune responses in human THP-1 cells through Dectin-1, not TLR2.</p>

Survey on mental disorders among registered residents and non-registered residents in Shenzhen / 中华流行病学杂志

Objective To study the prevalence and distribution of mental disorders among registered and non-registered residents in Shenzhen. Methods An epidemiological survey on mental disorders were carried out in Shenzhen by stratified multi-stage randomized sampling method; 7134 respondents were assessed through face-to-face interview, using the WHO standardized version on World Mental Health (WMH) Survey Initiative of the Composite International Diagnostic Interview (CIDI3.1). Results (1)The weighting prevalence of mental disorders was 21.87%. The prevalence of non-registered residents was significantly higher than that of the registered residents (22.34% vs. 19.99% ; OR= 1.15,95%CI: 1.03-1.29; P<0.05) and the prevalence of females was significantly higher than that of males (22.68% vs. 19.67%; OR=1.20,95%CI: 1.07-1.34; P<0.05). The weighting prevalence of mood disorders, anxiety disorders and psychoses were 9.62%, 14.45% and 1.40%, respectively. (2) The weighting twelve-month incidence of mental disorders was 13.42%. The incidence of non-registered residents was significantly higher than that of the registered residents (13.80% vs. 11.90%; OR=1.19, 95%CI: 1.03-1.36; P<0.05). (3)The co-morbidity rate between mental disorders was 35.76%. (4)The prevalence and severity of mental disorders were associated with sex, household situation of registration, marital status, education, economic condition and occupation status. Conclusion Mental disorders have become common diseases and serious public health problem in Shenzhen, with non-registered residents and females deserve more attention.

Clinical characteristics and rescuing on severe trauma in patients of various ages / 中华急诊医学杂志

Objective To analyze the clinical characteristics and the outcome of severe trauma of various ages in emergency department,to improve the therapeutic effect of emergency rescuing.Methods Two thousand and sixty nine patients of severe trauma were treated during a seven-year period from October 1997 to October 2004.The studied patients were divided into 5 groups:(1)adolescent group(Group A,＜13 years old,n=106);(2)juvenile group(Group B, 13-18 years old,n=128);(3)youth group(Group C,18-40 years old,n=1518);(4)middle age group(Group D, 40-60 years old,n=215);and(5)elderly group(Group E,＞60 years old,n=102).All the patients were evaluated with Injury Severity Score(ISS),and the result was≥16 in all of the studied patients.Results The incidence of severe trauma in male in all 5 groups was higher than that in female,and it was significantly higher in Group C,Group D and Group E when compared with that in the other groups(P＜0.01).Traffic accident was the leading cause of injury,and its incidence in Group A,Group B and Group D was higher than that in other groups(P＜0.01).However,injury caused by falling from high places was the second cause of injury,being significantly increased in Group A,while armed fighting and injury during work being significantly increased in Group B,Group C and Group D,slip fall injury being significantly increased in Group E(P＜0.01).Head injury was mainly found in Group A and Group E,extremities injury and/or spinal injury were increased markedly in Group B,Group C and Group D(P＜0.05),abdominal injury was significantly decreased in Group E(P＜0.001).The total mortality was 11.9%(246/2069).The mortality within 24 hours (20.6%,21/102)was significantly higher than that beyond 24 hours(7.8%,8/102)in Group E(P＜0.01).The time of staying in the emergency department differed significantly between the survived patients and those died in all 5 groups (P＜0.01).Conclusion The gender,the incidence and the characteristics of the injury causes and injury sites differed between severely injured patients of various ages.Mortality in the elderly is significantly increased following severe trauma. The idea of“golden one hour”and“platinum ten minutes”,measures of shortening the time of staying in the emergency clinic,early definite operation and damage control operation should be emphasized.

Analysis of shape and retractability of the prepuce in 1,015 Chinese boys aged from 0 to 18 years old / 中华男科学杂志

<p><b>OBJECTIVE</b>To evaluate the characteristics of the preputial development in Chinese boys and indications as well as occasion of circumcision.</p><p><b>METHODS</b>The shape and retractability of prepuce were evaluated in 1,015 Chinese boys from 0 to 18 years old without heteroplasia of prepuce and penis.</p><p><b>RESULTS</b>Ratio of children with phimosis decreases progressively with increasing age, from 64.09% in the first group (0 approximately 3 years old) to 7.66% in the fourth group (11 approximately 18 years old).</p><p><b>CONCLUSION</b>Phimosis and incomplete separation of the prepuce is normal in the neonate and infant. Prepuce will separate from the glans progressively till adolescence, so it's unnecessary to perform circumcision for them when without any complications.</p>

Psychological and Psychosomatic Status in Children with Pectus Excavatum / 实用儿科临床杂志

Objective To study the psychological and psychosomatic status of children with pectus exca vatum and the significance of orthotherapy. Method Eighty-seven patients and 87 healthy children were interviewed with the Achenba ch Child Behavior Checklist (CBCL),the symptom Checklist (SCL-90)and the psycho logical and psychosomatic status checklist contrived. Results The children with pectus excavatum showed higher frequency in interpersonal sens itivity, depression,anxiety,obsession compulsion and also more mental difficul ties than those of control group.The differences between the patients and health y children were significant statistically.Conclusions The psychological and psychosomatic status of children with pectus excavatum are worse than those of healthy children,so it is reasonable to perform an operati on earlier for improvement of physiological, psychological ,social aspects in ch ildren with pectus excavatum. J Appl Clin Pediatr,2005,20(2):178-179