Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis: report of 2 cases and review of literature / 白血病·淋巴瘤

Objective:To deepen the understanding of myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and to improve the levels of precise diagnosis and individualized treatment.Methods:The clinical data and next-generation sequencing molecular cloning results of two MDS/MPN-RS-T patients who were admitted to the First People's Hospital of Chuzhou in October 2017 and November 2019 were retrospectively analyzed, and the related literature was reviewed.Results:Case 1 was a 76-year-old female. The mutation loads from high to low were DNMT3A, JAK2 V617F and SF3B1. After administration of hydroxyurea, this patient acquired amelioration in anemia, and the platelet count improved. The clinical course was indolent. Case 2 was a 66-year-old male, who was initially diagnosed with essential thrombocythemia but failed to acquire response after hydroxyurea treatment. MDS/MP-RS-T was diagnosed after comprehensive examination. The mutation loads from high to low were SF3B1, ASXL1, JAK2 V617F and SRSF2. Pancytopenia occurred after disease progression, and the JAK2 V617F mutation finally turned negative. Administration of erythropoietin and lenalidomide failed to improve the condition, but low-dose decitabine treatment (10 mg/d, 3-5 d, once a month) improved the hematopoiesis.Conclusions:The co-mutation of JAK2 V617F and SF3B1 has a suggestive effect on the diagnosis of MDS/MPN-RS-T, and dynamic next-generation sequencing is helpful to elucidate the molecular nature of clinical heterogeneity of the disease. Low-dose decitabine has a certain curative effect on MDS/MPN-RS-T.

Efficacy of fractional CO 2 laser and 1064-nm, Q-switched Nd∶YAG laser on xanthelasma palpebrarum / 中华医学美学美容杂志

Objective:To determine the clinical efficacy and safety of a fractional CO 2 laser and a 1 064 nm, Q-switched Nd∶YAG laser therapy in the treatment of xanthelasma palpebrarum. Methods:From October 2020 to October 2021, 30 patients (5 males and 25 females) with bilateralxanthelasma palpebrarum of the eyelid were enrolled in the Department of Dermatology, the First Affiliated Hospital of Xiamen University. The age ranged from 38 to 67 (51±7) years. One side was randomly treated with fractional CO 2 laser as the fractional group, and the other side was treated with Q-switch 1 064 nm Nd∶YAG laser as the Q-switch group. The treatment was given every 28 days for 4 times. Before treatment and 1 month after the last treatment, the general pictures were taken to compare the clinical effect. Skin ultrasound was used to measure the difference of tumor thickness before and after treatment. The incidence of adverse reactions, such as local scar, hyperpigmentation or hypopigmentation after inflammation, were recorded. Results:Under general photos, there was statistically significant difference in efficacy scores between the two groups before and after treatment ( Z=-3.082, P<0.05). By comparison of tumor thickness under skin ultrasound, the difference between the two groups before and after treatment was statistically significant ( t=21.60, P<0.05; t=17.29, P<0.05); there was no statistically significant difference between the two groups before treatment ( t=0.46, P=0.650), but there was statistically significant difference between the two groups after treatment ( t=8.41, P<0.001). No serious adverse reactions occurred in both groups. Conclusions:Fractional CO 2 laser or Q-switch 1 064 nm Nd∶YAG laser can safely and effectively improve xanthelasma palpebrarum, in which the effect of fractional CO 2 laser is much better.

Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.</p><p><b>METHODS</b>All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.</p><p><b>RESULTS</b>Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.</p><p><b>CONCLUSION</b>The c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.</p>

Mutation analysis of the COL7A1 gene in pretibial dominant dystrophic epidermolysis bullosa / 中华皮肤科杂志

Objective To explore the role of type Ⅶ collagen (COL7A1) gene in the pathogenesis of pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt).Methods Peripheral blood samples were obtained from a sporadic Chinese patient of Han nationality with DDEB-Pt,his parents and 100 healthy human controls.A modified salting-out method was used to extract genomic DNA from the blood samples,and PCR was performed to amplify 118 exons of the COL7A1 gene followed by DNA sequencing.Results A G→A mutation was identified at position 6109 (G6109A) in exon 78 of the COL7A1 gene in this patient,which caused a change from GCT to ACT at codon 2037 in the triple helix region,and resulted in the substitution of glycine (Gly) by arginine (Arg) (p.Gly2037Arg).Conclusion A novel glycine substitution mutation was identified in the COL7A1 gene in the patient with DDEB-Pt,which may be a pathogenic mutation.

Curative effect of Cynergy dual wavelength laser in treatment of skin vascular pathological changes in children / 中华医学美学美容杂志

Objective To explore the curative effect and adverse reactions through Cynergy dual wavelength laser to cure skin vascular pathological changes in children.Methods Cynergy dual wavelength (595 nm and 1064 nm) laser were used to treat the skin vascular pathological changes in children (650 cases) including strawberry-shaped hemangioma (398 cases) and port wine stain (252 cases).Anergy density was 5-15 J/cm2 and 30-80 J/cm2.The curative effect and adverse reaction and also the relationship between the port wine stain curative effect and the age of patient,location,and colour of skin lesions were analyzed.Results In total 650 cases after 3-7 times treatments under suitable pulse width and energy density,the curative effect for strawberry-shaped hemangioma was 92.2 ％,that for pink type port wine stain was 77.9 ％,that for purple type port wine stain was 38.9 ％,and that for thickening type port wine stain was 14.3 ％ ; the overall adverse reaction rate was 2.3 ％.After test with x2 analysis,the curative effect of port wine stain also varied depending on the age of patient,location,and colour of skin lesions.The younger the age of patient and shallower of colour of skin lesions,and the better the curative effect.The curative effect for location around the eyes was better than frontal face and limbs.Conclusions Application of Cynergy dual wavelength laser in treatment of the skin vascular pathological changes in children has notable curative effect and low adverse reaction.It is a new curative technology and also safe and reliable.It is worthy of popularization and application.

Effect of chloroform extract of Zingiber mioga Roscoe on human dermal microvascular endothelial cell expression of cell adhesion molecules and adhesivity to lymphocytes / 中华皮肤科杂志

Objective To investigate the effect of chloroform extract of Zingiber mioga Roscoe on human dermal microvascular endothelial cell (HDMEC) expression of cell adhesion molecules and adhesivity to lymphocytes.Methods HDMECs were isolated from human foreskin tissue and subjected to subculture.After several passages,some HDMECs were treated with chloroform extract from Zingiber mioga Roscoe (CFMG) of 200 mg/L for 30 minutes before or after 24-hour stimulation with tumor necrosis factor (TNF)-α or interleukin (IL)-1α.Subsequently,enzyme-linked immunosorbent assay was performed to determine the expression levels of intercellular adhesion molecule-1 (ICAM-1),vascular cell adhesion molecule-1 (VCAM-1) and E-selectin on HDMECs.Both T lymphocytes isolated from venous blood of healthy adults and Ramos Burkitt's lymphoma B cells were labelled with chromium-51 and incubated with the HDMECs for four hours followed by the determination of radiation intensity of lymphocytes adhering to HDMECs using a gamma-counter.Results Compared with 0.2％ dimethyl sulfoxide (DMSO),CFMG slightly down-regulated the expression of ICAM-1,VCAM-1 and E-selectin on resting HDMECs (all P ＞ 0.05).In comparison with culture medium,TNF-α enhanced the expressions of ICAM-1,VCAM-1 and E-selectin significantly (all P ＜ 0.01),and IL-1α elevated the expressions of ICAM-1 and E-selectin markedly(both P ＜ 0.01) as well as the expression of VCAM-1 slightly (P ＞ 0.05).The upregulating effects of TNF-α and IL-1α on the expressions of adhesion molecules were notably suppressed by the CFMG treatment prior to the stimulation with TNF-α and IL-1α(all P ＜ 0.01),but not affected by that after the stimulation (all P ＞ 0.05).The adhesivity of HDMECs to T lymphocytes and Ramos cells was slightly decreased by CFMG treatment compared with 0.2％ DMSO (both P ＞ 0.05),but was markedly increased by TNF-α and IL-1α compared with the culture medium (both P ＜ 0.01).Conclusions CFMG may play an antiinflammatory role via blocking the up-regulating effect of pre-inflammatory cytokines such as TNF-α and IL-1α on the expression of adherence molecules on HDMECs and,hence,inhibiting inflammatory cell infiltration in tissue.

Expression and significance of CD34, CD117 on bone marrow mononuclear cells of patients with myelodysplastic syndrome / 白血病·淋巴瘤

Objective To explore the expression and significance of CD34, CD117 on bone marrow mononuclear cells of myelodysplastic syndromes (MDS). Methods Direct immunofluorescence staining was used by means of flow cytometry. 37 patients with MDS were divided into RA/RARS/RCMD subgroup, RAEB Ⅰ/RAEB Ⅱ subgroup; favorable chromosomal subgroup, poor chromosomal subgroup; intermediate-risk Ⅰ subgroup, intermediate-risk Ⅱ subgroup, high-risk subgroup respectively according to WHO classification,cytogenetic abnormalities and international prognostic scoring system (IPSS). Results CD34 and CD117 were positive respectively in 11 of 19 patients with RMRARS/RCMD, all cases in RAEB Ⅰ/RAEB Ⅱ expressed CD34 and CD117; increased expression of CD34 and CD117 was MDS grade-related. Favorable chromosomal subgroup, 14 of 22 patients were positive for CD34, CD117, all cases in poor chromosomes expressed CD34 and CD117; there was a direct relationship between phenotytic density and poor cytogenetic risk factor. CD34 and CD117 expression was present respectively in intermediate-risk Ⅰ (9/17), intermediate-risk Ⅱ (11/11) and highrisk subgroup (9/9); the phenotypic intensity also was correlated with IPSS scores. Conclusion Detection of CD34, CD117 may be a useful tool for subtyping and predicting the prognosis of MDS.

Gambogic acid induces Raji cell apoptosis in vitro and its mechanism / 白血病·淋巴瘤

Objective To study the inducing apoptosis effect of a traditional Chinese medicine gambogic acid (GA) on Raji cell line and its mechanism. Methods The effect of GA on the proliferation of human peripheral blood mononuclear cells induced by lipopolysaccharide (LPS) was analyzed. Raji cells were treated with GA at different concentrations and times, and the inhibitory effect was detected by MTT assay.Apoptosis induced by GA was observed by Annexin V/PI doubling staining and flow cytometry assay.Mitochondrial membrane potential was measured by JC-1 assay. Activated Caspase-3, Caspase-8 and Caspase-9 in living Raji cells were measured by caspGLOWTM fluorescein staining kit and quantificated by flow cytometry. Results After incubation with GA, the proliferation rates of both normal blood mononuclear cells and Raji cells were dramatically inhibited in a concentration dependent manner. GA induced Raji cells to undergo apoptosis. GA decreased the mitochondrial membrane potential of Raji cells. GA increased the level of activated caspase 3, caspase 8, caspase 9 for 0.37 %, 33.57 %, 18.27 % in 24 h and 28.2 %, 69.2 %,76.7 % in 48 h respectively. Conclusion GA have an inhibitory effect on Raji cells, and can trigger apoptosis of Raji cells through both intrinsic and extrinsic pathways.

Dectection and risk factor analysis of cytomegalovirus infection after allogeneic hematopoietic stem cell transplantation / 白血病·淋巴瘤

Objective To examine the frequency and the course of cytomegalovims infection after allogeneic hematopoietic stem cell transplantation, and correlation of transplant factors with Cytomegalovirus (CMV) infection and viral load. Methods Using real-time polymerase chain reaction, we detected the copies of CMV-DNA in blood samples of the 62 patients after allo-HSCT. Furthermore, we studied the relationship between transplant factors and CMV infection. Results Among the total, 23 cases were contracted with CMV infection, 4 cases developed to CMV disease. 22 cases were cured and 1 case died. Course of CMV infection influenced the viral load significantly. Donor type, stem cell source, use of ATG, Ⅱ-Ⅳ grade aGVHD, use of glucocorticoid, complicating with other infection and use of cellular filter significantly influenced CMV infection. However, in multivariate analysis, none of them was the independent risk factors. Conclusion Real-time polymerase chain reaction may be used to early diagnose of the CMV infection and to guide treatment. Many factors influenced CMV infection. Early diagnosis and treatment could decrease the morbidity and mortality of CMV infection.

Neutropenic Hematological Malignancy Patients with Imipenem-resistant Pseudomonas aeruginosa Sepsis:Analysis of 3 Cases / 中华医院感染学杂志

OBJECTIVE To investigate the clinical characteristics of imipenem-resistant Pseudomonas aeruginosa sepsis in neutropenic hematological malignancy patients. METHODS A retrospective review of the medical records of 3 cases in neutropenic hematological malignancy patients with P.aeruginosa sepsis in June 2008 were taken. RESULTS All they died within 3 days,2 times blood culture results indicated.With imipenem-resistant P.aeruginosa growth. CONCLUSIONS Neutropenic hematological malignancy patients with imipenem-resistant P.aeruginosa sepsis have rapid progress of the disease and high mortality rates,we should step up surveillance.

The Application of Correspondence Analysis toFactorial Experiment for Analysis of Cephalosporinwith Reversed Phase High Performance Liquid chromatography / 分析化学

Correspondence analysis was used for determining the important factors from the six factors influencing analysis of cephalosporin in reversed phase-high performance liquid chromatography (RP-HPLC). Experiments were planed by U7（76）, then the synthetical correspondence between a series of optimizations and the factors was calculated. Result indicated that that proportion of organic solvent, pH and concentration of buffer were three most important factors. It showed that the correspondence analysis was a better method to determining the important factors in RP-HPLC

Studies on DNA fingerprint of genuine Chinese herbs Alisma orientalis by RAPD / 中草药

Object To research genovariations between genuine Chinese herbs and non genuine ones and to develop a valuable tool used in identification of the Chinese herb.Methods RAPD technique was applied in studies on the samples of Alisma orientalis (Sam.) Juzep. from different area in Fujian, Sichuan and Jiangxi provinces.Results The DNA fingerprints of genuine and non genuine Chinese herbs were compared and it was suggested that the herbal populations growing in different area in above three provinces had different genus characteristics.Conclusion RAPD technique is a valuable tool for identification of genuine Chinese herbs.