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.

Clinical Efficacy of Haplo-HSCT of ATG Combined with PTCy for Children with Myelodysplastic Syndrome / 中国实验血液学杂志

OBJECTIVE@#To investigate the efficacy and safety of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) in combination of ATG and post-transplant cyclophosphamide (PTCy) -induced immune tolerance after transplantation in treatment of childhood myelodysplastic syndromes(MDS）.@*METHODS@#From July 2016 to November 2020, a total of 8 children with MDS receiving the haploidentical allo-HSCT combined with ATG and PTCy-induced immune tolerance after transplantation in our hospital were enrolled, whose clinical data were retrospected and analyzed.@*RESULTS@#Median age at diagnosis of the 8 children (1 male and 7 females) was 6.4 (range, 10 months to 15 years) years old. The median medical history of MDS was 2.7 years (range, 3 months to 8 years). Among the 8 patients, 7 cases were diagnosed with refractory cytopenia of childhood and one with refractory anemia with excess of blasts. The HSC donors were father, mother or brother of patients and HLA matching in 6-9/12 loci were identical. All the donors were healthy and didn't carry the same pathogenic genes as the recipients. The median age of donors was 36.4 (range, 25 to 49) years old. The median mononuclear cell (MNC) number of the graft was 19.8, ranging in (13.2-47.3)×108/kg, and the median CD34+ cell number was 11.8×106/kg, ranging in (5.0-18.3)×106/kg. Graft-versus-host disease prophylactic regimen was started on day 3 and 4 after transplantation, in which cyclophosphamide (50 mg/kg·d) was administered by intravenous infusion. From day 5 after transplantation, low-dose tacrolimus was administered by intravenous infusion and mycophenolate mofetil was administered orally. The median time of neutrophil and platelet engraftment was 12.6 (rang, 11 to 15) days and 13.3 (rang, 11 to 18) days, respectively. All the patients achieved full donor chimerism on neutrophil engraftment after transplantation. The median follow-up time was 1 032 (rang, 747 to 1 536) days. Both overall survival rate and disease-free survival rate were 100%.@*CONCLUSION@#Haplo-HSCT combined with ATG and PTCy-induced immune tolerance after transplantation is a safe and effective treatment for children with MDS.

Multicenter Cross-sectional Community-based Nutrition Risk Screening in 3885 Chinese Elderly Adults / 中国医学科学院学报

Objective To evaluate the nutrition risks in Chinese elderly adults in community and provide the basis for malnutrition prevention.Methods The study population comprised of adults aged 60 years or older selected from communities. A stratified multi-stage cluster sampling method was used to investigate older adults in rural and urban areas with structured questionnaire. Nutrition Screening Initiative (NSI) checklist was used to screen nutritional status. Analyses were stratified according to age,gender,different regions,rural and urban areas,and income.Results A total of 3885 older adults with complete information were enrolled for final analyses,among whom 1894 (48.8%) were males and 1991 (51.2%) were females; 56.2% aged 60-69 years,28.8% aged 70-79 years,and 15% aged over 80 years; 1665(42.9%) were urban residents; 1592(41.0%) were in the eastern region,1211(31.2%) in the central region,and 1082(27.8%) in the western region. Up to 48.4% of the elderly adults were at high nutritional risk,and the nutritional risk was significantly higher in females (50.7%) than in males (46.0%),in individuals aged over 80 years (53.0%) than in other age groups,in urban area (41.7%) than in rural area (53.9%),and in eastern region (52.9%) than in other regions. Significant differences were found between nutritional status and the following variables: age (Χ =33.7,P=0.000),gender (Χ =15.7,P=0.000),different regions (Χ =72.0,P=0.000),rural and urban areas (Χ =69.4,P=0.000),income (Χ =304.9,P=0.000),and living arrangement (Χ =128.1,P=0.000).Conclusion Elder adults in community are at high nutritional risk.

Biological dose estimation in the victim exposed to the iridium-192 in a radioactive source-loss accident in Nanjing City / 中国职业医学

OBJECTIVE: To estimate the biological dose by the chromosome aberration analysis in a victim suffered in the radioactive source-loss accident in Nanjing City. METHODS: Peripheral blood sample of the victim was collected 6 days after radioactive exposure. Individual radioactive biological dose was estimated by identifying the aberration of the dicentrics plus centric rings in the metaphase chromosome of cells. The distribution of chromosome aberration was tested by the Poisson distribution. Impure Poisson distribution was used to estimate the radiation dose. RESULTS: Among the 353 cells observed at metaphase,75 aberration of dicentrics plus centric rings were found,43 cells had 1 aberration and 7 cells had 2 aberrations. Moreover,there were 3 multi-aberration cells with 3,4 and 11 aberrations respectively. The average individual radiation dose was estimated to be 1. 52 Gy,which was consistent with the clinical diagnosis as mild acute bone marrow radiation disease. The Poisson distribution u test revealed that the patient suffered from nonhomogeneous radiation.By the impure Poisson distribution test,the radiation exposure proportion of the whole body was estimated to be 55% and the average dose was 3. 02 Gy. CONCLUSION: The biological dose estimation was successfully performed,the results showed that this was a case of nonhomogeneous irradiation.

PI3K/AKT/mTOR Pathway and Pediatric T Acute Lymphoblastic Leukemia-Review / 中国实验血液学杂志

The PI3K/Akt/mTOR signaling pathway plays a central role in cell growth, proliferation and survival in physiological conditions. This signal pathway is considered to be an innovative targeted therapy of cancer, and its abnormal activation has been proved to be related to T-cell acute lymphoblastic leukemia (T-ALL) .Despite improved treatment strategies, such as multi-drug combination, high-dose chemotherapy and all kinds of application and popularization of hematopoietic stem cell transplantation, children with drug resistance or relapse T-ALL are still rather worse and its overall outcome and prognosis are much poorer than the more common B-lineage ALL. Therefore, more effective and less cytotoxic treatment targeted strategies for leukemia greatly needed. This review focuses on the relationship between the PI3k/Akt/mTOR pathway and the pediatric T-ALL, so as to reveal the exact molecular mechanism of T-ALL and provide more directions for its treatment.

Diagnosis of Fanconi anemia in children with atypical clinical features: a primary study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA repair. Arriving at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical features. It is very important to increase the rate of accurate diagnosis for such cases in a clinical setting. The purpose of this study is to explore the clinical diagnosis of Fanconi anemia in children with atypical clinical features.</p><p><b>METHODS</b>Six cases of Fanconi anemia with atypical clinical features were enrolled in the study, and their clinical features were recorded, their FANCA gene transcription was assessed by RT-PCR, and FANCA mutations and the ubiquitination of FANCD2 protein were analyzed using DNA sequencing and western blotting respectively.</p><p><b>RESULTS</b>All six cases showed atypical clinical features including no apparent deformities, lack of response to immune therapy, and progressively increasing bone marrow failure. They also have significantly increased fetal hemoglobin, negative mitomycin-induced fracture test results, and carry a FANCA gene missense mutation. Single protein ubiquitination of FANCD2 was not observed in those patients.</p><p><b>CONCLUSION</b>The combination of clinical features, FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.</p>

Tuberous sclerosis complex in autism

To study the prevalence rate of tuberous sclerosis complex in autistic disorder. We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period [2005-2009], we collected a database of 429 children [390 boys and 39 girls; male to female ratio 10:1] with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70. The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex

Gene therapy study on bladder cancer with recombinant adenoviral vector carrying LRIG1 gene driven by Survivin promoter / 中华外科杂志

<p><b>OBJECTIVE</b>To investigate the treatment efficiency and mechanism of recombinant adenoviral vector carrying LRIG1 gene driven by Survivin promoter for bladder cancer.</p><p><b>METHODS</b>Human bladder cancer cell line BIU87 and immortalized human bladder epithelial cells SV-HUC-1 were infected with Ad-Surp-LRIG1 and Ad-LRIG, respectively. The selective infection efficiency of Ad-Surp-LRIG1 and Ad-LRIG were evaluated by checking the expression of epidermal growth factor receptor (EGFR). The MTT method was used to test cell growth inhibition ratio of Ad-Surp-LRIG1 and Ad-LRIG. Heterotransplanted models of human bladder cancer cell line BIU87 cells in nude mice were established. The mice were randomly divided into 3 groups during the experiment: Ad-Surp-LRIG1 group received viral supernatant solution of Ad-Surp-LRIG1 by tail vein injection; Ad-LRIG group received viral supernatant solution of Ad-LRIG by tail vein injection; and PBS group received phosphate buffer solution (PBS). The growth of tumors were observed and the growth curve was mapped. The expression of LRIG1 and EGFR were examined by reverse transcription PCR (RT-PCR).</p><p><b>RESULTS</b>When Multiplicity of infection was 25, the transfection efficiency of Ad-Surp-LRIG1 was 74.56% in BIU87 cells and 0 in SV-HUC-1 cells (χ² = 58.640, P = 0.000), while the transfection efficiency of Ad-LRIG was 68.27% in BIU87 cells and 72.52% in SV-HUC-1 cells (χ² = 0.075, P = 0.784). The transfection efficiency difference of Ad-Surp-LRIG1 and Ad-LRIG in BIU87 cells was not statistically significant (χ² = 0.016, P = 0.898). Compared with PBS, Ad-Surp-LRIG1 and Ad-LRIG1 could inhibit BIU87 cell growth, the difference was significant in 4 days after transfection (F = 15.960, P = 0.000). There was not significant difference in cell growth rate of Ad-Surp-LRIG1 group and Ad-LRIG1 group. The tumor growth rate in Ad-Surp-LRIG1 group was slower than that in the other 2 groups. The tumor quality in Ad-Surp-LRIG1 was lighter than that in the other two groups, the differences were statistically significant (F = 97.860, P = 0.000), the quality difference in Ad-LRIG1 group and PBS group was not statistically significant difference (t = 1.73, P = 0.06). Compared with Ad-LRIG1 group and PBS group, the mRNA expression of LRIG1 was obviously up-regulated and that of EGFR was down-regulated in Ad-Surp-LRIG1 group (P < 0.01).</p><p><b>CONCLUSIONS</b>The recombinant adenoviral vector of Ad-Surp-LRIG1 could selectively transfected BIU87 cells, which could inhibit significantly the growth of bladder cancer in vivo and in vitro, the mechanism may be partly LRIG1 can downgrade the expression of EGFR.</p>

Etiology and prevalence of abnormal serum alanine aminotransferase levels in a general population in Northeast China / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Chronic liver diseases are a major burden in China. Alanine aminotransferase (ALT) can be used as an indicator of hepatocyte damage. In this study, we determined the prevalence and etiologies of elevated ALT in an adult population in Jilin, China.</p><p><b>METHODS</b>A total of 4072 individuals aged between 18 and 79 years were first interviewed, and then underwent ultrasonography and blood tests.</p><p><b>RESULTS</b>The prevalence of elevated ALT was 17.53%. The most noticeable risk factor for ALT elevation was non-alcoholic fatty liver disease (NAFLD) (accounting for 10.79%), metabolic syndrome (16.25%), or both (20.31%). The development of NAFLD occurred mostly in female peasants and small businessmen with increased income, age, fasting plasma glucose, body mass index, triglyceridemia, and low-density lipoprotein and decreased education level, high-density lipoprotein. Elevated ALT frequently occurred in low education level, male peasants and small businessmen with increased income, body mass index and triglyceride who had NAFLD and/or metabolic syndrome. However, elevated ALT with infection of hepatitis B or C virus was not associated with metabolic disorders, but rather with gender, occupation and increased age.</p><p><b>CONCLUSION</b>The results from the current study demonstrate that elevated ALT is fairly high in the Northeast population (17.53%) and that the cause of its elevation is mostly due to NAFLD and metabolic syndrome.</p>

Juvenile xanthogranuloma: 3 cases report and literature review / 中华血液学杂志

<p><b>OBJECTIVE</b>To report the clinical characteristics and treatment of 3 patients with juvenile xanthogranuloma (JXG).</p><p><b>METHODS</b>A retrospective review of the medical records of 3 patients with JXG.</p><p><b>RESULTS</b>JXG was characterized by solitary or multiple yellowish cutaneous nodules, or eye involvement . It could also affect pituitary. JXG was easily misdiagnosed as Langerhans cell histiocytosis (LCH). Treatment for JXG was surgical excision of a solitary skin lesion and some cases might be, spontaneous regression. In cases with multisystem involvement, chemotherapy regimens used to treat LCH may be effective.</p><p><b>CONCLUSIONS</b>JXG is one of the more common non-Langerhans histiocytic proliferations and is frequently seen in infants and children. LCH-like chemotherapy is effective for patients with symptomatic multisystem JXG.</p>

Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients / 中华血液学杂志

<p><b>OBJECTIVE</b>To analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).</p><p><b>METHODS</b>The two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.</p><p><b>RESULTS</b>An abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.</p><p><b>CONCLUSION</b>We should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.</p>

Suppression of survivin gene in leukemia cells by small interfering RNA / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the impact of specific siRNA on survivin gene in transfected leukemia cells.</p><p><b>METHOD</b>The small interfering RNA (siRNA) targeted survivin mRNA was synthesized in vitro and was transfected into K562 cell by Hiperfect into human leukemia cell line K562, which has high survivin expression level. The level of survivin mRNA expression was determined by quantitative reverse transcription polymerase chain reaction (RT-PCR) with SYBR GREEN I. The apoptosis index of cytotrophoblasts were determined and analyzed by FCM (Annexin V-FITC/PI staining methods). The cell proliferation was examined by MTT at 48 h and 72 h after transfection.</p><p><b>RESULT</b>The level of mRNA expression was significantly inhibited by the siRNA 48 h and 72 h after transfection, the suppression rate of survivin mRNA separately reached 85.21%, 94.35% mensurated by quantitative RT-PCR with SYBR GREEN I, cell proliferation was inhibited significantly by 45.02% and 50.88%, respectively, the apoptotic rate detected by Annexin V-FITC assay reached 12.28%and 21.55%, respectively.</p><p><b>CONCLUSION</b>The chemosynthesized siRNA targeting survivin could significantly down-regulate survivin mRNA. Survivin siRNA was able to inhibit the proliferation of leukemia cell line K562. Survivin may become a new target for leukemia gene therapy.</p>

Clinical and genetic characteristics of a patient with dyskeratosis congenita / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.</p><p><b>METHOD</b>The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing.</p><p><b>RESULT</b>The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by multi-system abnormalities. DKC1 (1058C-T, A353V) was detected in the patient.</p><p><b>CONCLUSION</b>The patient presented with classical features of dyskeratosis congenita and DKC1 (1058C-T, A353V) did exist in this patient. X-linked recessive dyskeratosis congenita was confirmed.</p>

Incidence and risk factor analysis of neonatal apnea in the representative regions of Guangdong Province / 南方医科大学学报

<p><b>OBJECTIVE</b>To conduct an epidemiological survey of the prevalence of neonatal apnoea and and identify its risk factors in Guangdong Province.</p><p><b>METHODS</b>The epidemiological data of neonatal apnea were collected by means of cluster sampling from 10 representative regions of Guangdong Province, and the risk factors for this condition were analyzed with logistic regression.</p><p><b>RESULTS</b>In the representative regions chosen for this survey, the incidence of neonatal apnea was 9.85% in the newborn infants, suggesting a generally similar picture of its prevalence in Guangdong Province. Maternal heart disease and anaemia, number of miscarriages, fetal position and present, oxytocin application, vacuum extraction, prolonged second stage of labor, and number of cesarean delivery were identified as the risk factors for neonatal apnoea, whereas number of pregnancies, the last antenatal examination prior to delivery, high-level antenatal examination hospital, antenatal examination times, and number of normal deliveries were the protective factors. Abnormal amniotic fluid, premature birth, and cord around the neck were the most important risk factors for neonatal apnoea, and adequate amniotic fluid volume is the protective factors for neonatal apnoea.</p><p><b>CONCLUSION</b>Rigorous control of the risk factors and enhancement of the protective factors can reduce or even prevent the incidence of neonatal apnoea.</p>

Comparative study on bone marrow megakaryocytes in children with thrombocytopenic purpura, aplastic anemia and myelodysplastic syndrome / 中华儿科杂志

<p><b>OBJECTIVE</b>Thrombocytopenic hemorrhage is one of the major appearance in pediatric hemorrhagic diseases, in which, idiopathic thrombocytopenic purpura (ITP) is the most common disease. Thrombocytopenia is the earliest phenomenon or the only one in certain phases of hemorrhagic diseases, such as ITP, aplastic anemia (AA) and myelodysplastic syndrome (MDS). By now, the pathogenesis of thrombocytopenia in different diseases has not been clearly determined. At present, it is very difficult to diagnose these diseases and estimate their prognosis with current clinical data. In this study, morphological characteristics and hematopoiesis function of bone marrow megakaryocyte in pediatric patients with ITP, AA and MDS were observed and the cause and mechanism of different thrombocytopenias were analyzed.</p><p><b>METHODS</b>There were 16 children with ITP, 17 with AA and 16 with MDS in this study. CD41 McAb immunohistochemical technique was used to detect micromegakaryocyte on bone marrow smears. Plasma clot culture and CD41 McAb immunohistochemical technique were used for the MK-colony forming assay. The colony formation rate of colony formation unit-megakaryocyte (CFU-MK) and burst formation unit-megakaryocyte (BFU-MK) were counted.</p><p><b>RESULTS</b>There was no statistical difference on the positive rates of micromegakaryocyte and type I lymphoid small micromegakaryocyte between groups of ITP and control. The number of micromegakaryocyte and the formation rates of CFU-MK in ITP group were significantly higher than those in control group. Among AA patients, the numbers of MK, micromegakaryocyte and the formation rates of CFU-MK, BFU-MK in vitro significantly decreased. There was no significant difference in the positive rate of micromegakaryocyte between groups of MDS and control, but the number of micromegakaryocyte and the positive rate of type I lymphoid micromegakaryocyte were significantly higher than those of control group. There was no statistical difference of the formation rate of CFU-MK between groups of MDS and control. But in 63% childhood patients, the formation rate of CFU-MK decreased, 25% increased,and 13% was normal; BFU-MK formation rate decreased significantly in MDS group.</p><p><b>CONCLUSION</b>Overproliferation of bone MKs may exist in most ITP patients. For obviating the nosogenetic factors, the normal MK releasing platelet could be easily found in the culture system. But the colony formation rate of MK decreased in a few patients with CITP. The abnormality of MK might be one of the reasons for thrombocytopenia in partial patients with ITP. Underproliferation of MKs may exist in AA, but no pathosishemogenesis was found. The dysfunction of early phase MK progenitor and stem cell might be the major reason for AA, but not the abnormality of hematopoietic microenvironment. There may be two kinds of megakaryocyte clones in bone marrow of children with MDS. One may be pathologic and potentially malignant micromegakaryocytes, the other may be the normal megakaryocytic precursors. The increase of pathologic MK resulted in abnormal development and maturation of MK in bone marrow. The change of megakaryopoiesis showed different in ITP, AA or MDS. Using bone marrow smear megakaryocyte counting, small micromegakaryocyte immunohistochemical detecting and the formation rate of bone marrow MK colony assay, the different thrombocytopenia can be diagnosed during the early stage of ITP, AA or MDS.</p>

Study on bone marrow megakaryocytes in children patients with idiopathic thrombocytopenic purpura / 中国实验血液学杂志

To observe the morphological characteristics and hematopoietic function of bone marrow megakaryocyte (MK) in children patients with idiopathic thrombocytopenic purpura (ITP), and to preliminary analyse the cause and mechanism of thrombocytopenia. CD41 McAb immunohistochemical technique was used to detect micromegakaryocyte in bone marrow smear. Plasma clot culture and CD41 McAb immunohistochemical technique were used for the MK-colony forming assay. The results showed that there was no statistical difference of the positive rate of micromegakaryocyte between groups of ITP and control, but type I lymphocyte-like micromegakaryocyte was infrequent. The number of micromegakaryocyte and the formation rates of CFU-MK and BFU-MK in ITP group were significantly higher than those in control group. The normal MK releasing platelet could be easily found in the culture system. The MK colony formation rate was decreased in a patient with chronic ITP. In conclusion, the increment of type II, III, IV micromegakaryocytes is one of pathologic phenomenon of ITP. These small megakaryocytes can develop and mature to normal megakaryocytes in the condition of ex vivo culture. The developmental abnormity of MK is a possible reason for thrombocytopenia among partial patients with ITP, especially the chronic cases.

Study on bone marrow megakaryocytes in children patients with myelodysplastic syndrome / 中国实验血液学杂志

The study was aimed to observe morphological characteristics and hematopoiesis function of bone marrow megakaryocyte in children patients with myelodysplastic syndrome (MDS), and analyse the cause and mechanism of thrombocytopenia. CD41 McAb immunohistochemical technique was used to detect micromegakaryocytes of bone marrow smear. Plasma clot culture and CD41 McAb immunohistochemical technique were used for the MK-colony forming assay. The colony formations of CFU-MK and BFU-MK were measured. The results showed that there was no significant difference of CFU-MK colony formation rate between groups of MDS and control. But, in 62.5% of children patients the colony formation rate of CFU-MK decreased, in 25% increased, and in 12.5% was normal while BFU-MK formation rate decreased in MDS group significantly. The number of micromegakaryocyte and the positive rate of type I lymphoid micromegakaryocyte were significantly higher than those of the control group. In conclusion, there may be two kinds of megakaryocyte clones in bone marrow of children patients with MDS. One is supposed to be pathologic and potentially malignant micromegakaryocytes, the another may be the normal megakaryocytic precursors. The thrombocytopenia in MDS patients induced by increase of pathologic MK leads to abnormal development and maturation of MK in bone marrow.

Clinical significance and relationship between traditional classification and Lavin-Osband criteria in Langerhans cell histiocytosis / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the relationship between traditional classification and Lavin-Osband criteria on Langerhans cell histiocytosis (LCH) and to evaluate the importance of the criteria in clinical management and long-term prognosis of Lavin-Osband criteria.</p><p><b>METHODS</b>From 1992 to 2003, 25 cases of LCH were studied. All cases were divided into four types by traditional classification and graded according to Lavin-Osband criteria simultaneously. All patients were analyzed with clinical manifestation, laboratory test, diagnoses, treatment and prognosis. The case numbers distributed in different Lavin-Osband criteria were summed up, and the advantage of the criteria was analyzed.</p><p><b>RESULTS</b>The clinical manifestations according to the traditional classification (four types) overlapped mostly. The age of onset of the disease, the number of involved organs and the function of organs were all considered in the Lavin-Osband criteria, which also contained the characters of the traditional classification and could classify the cases into different severities. So Lavin-Osband criteria could predict the outcome of LCH. According to the traditional classification there were 10 cases with type I LCH, which was all graded to the criteria III and IV (100%), and there were 8 (80%) of criteria IV and none of criteria I and II. The situation was called "low type high criteria". There were 6 cases belong to LCH-II, of them 3 (50%) graded to the criteria III and 1 to the other criteria (17%), respectively. There were 4 cases with LCH-III, of them 3 (75%) graded to the criteria I and II, 1 (25%) to the criteria III and none to the criteria IV. There were 5 cases with LCH-IV, of them 4 (80%) graded to the criteria I and II, 1 (20%) to the criteria III and none to the criteria IV. This situation was called "high type low criteria".</p><p><b>CONCLUSION</b>The Lavin-Osband criteria seemed to be simple, clear and easy to be handled and related to the severity of the disease, which will simplify the diagnoses, help the early-treatment and judge the prognosis.</p>

A study on micromegakaryocyte in children with idiopathic thrombocytopenic purpura / 中华儿科杂志

<p><b>OBJECTIVE</b>Bone marrow megakaryocytes overly proliferate and abnormally develop among patients with idiopathic thrombocytopenic purpura (ITP). Previous studies showed that it resulted from the abnormal immune function of the body. But the changes in megakaryocytes, especially in micromegakaryocytes in this disease are unclear. The present study was designed to explore the growth and development status of megakaryocytes and the significance of changes in micromegakaryocytes in pediatric cases.</p><p><b>METHODS</b>Routine bone marrow smears assay and enzyme labeling for micromegakaryocytes with CD41 monoclonal antibody (McAb) were performed in 46 children with ITP. The level of platelet-associated immunoglobulin (PA-Ig) was measured with ELISA.</p><p><b>RESULTS</b>Among 46 children, 36 had acute ITP (AITP)and 10 chronic ITP (CITP). The number of megakaryocytes increased or was normal in 45 patients, but decreased only in 1 case of CITP. The positive rate of micromegakaryocytes and type I micromegakaryocytes was 98% (45/46) and 35% (16/46), respectively. The positive rate of type I micromegakaryocytes was higher in CITP (50%) cases than that in AITP (31%) cases, but the median of the other three types of micromegakaryocytes in CITP cases (159) was lower than that in the AITP cases (336). There was no relationship between the numbre of all types of megakaryocytes and the level of PA-Ig.</p><p><b>CONCLUSION</b>Majority of patients with ITP showed an increase in micromegakaryocytes, especially in type II, III and IV. The immune disturbance might not be the only reason for ITP. The abnormality of quality of megakaryocytes might be one of the potential causes for thrombocytopenia in some cases of ITP, especially in those of CITP. The appearance and the number of type I micromegakaryocytes might reflect the prognosis of cases of ITP.</p>