Biliary hemorrhage caused by a malignant small round cell tumor in the common bile duct: A case report.

BACKGROUND: Malignant small round cell tumor (MSRCT) metastasis to the common bile duct associated with recurrent biliary hemorrhage is extremely rare. Thus far, there have been no reports of metastatic small round cell tumors of the common bile duct. CASE SUMMARY: Herein, we report the case of a 77-year-old female patient with an MSRCT in the common bile duct. The patient was admitted to hospital due to gastrointestinal hemorrhage and abdominal pain. We found a neoplasm in the common bile duct with active bleeding through a spyglass. We performed biopsy through the spyglass and placed a metal stent to stop bleeding. The pathological result suggested that it was an MSRCT metastasized from the back to the common bile duct. Later, we found using fluorescence in situ hybridization that the SS18 gene break test was negative, ruling out the diagnosis of synovial sarcoma. CONCLUSION: MSRCT is a group of tumors with similar cell morphology and diffuse histological structure. Complete tumor resection results in improved survival in patients with MSRCT. Roux-en-Y cholangiojejunostomy was performed. After excision of the common bile duct tumor, the patient felt that the abdominal pain improved and hemorrhage disappeared. The patient underwent routine fecal examination one month after surgery, indicating a negative fecal occult blood test. On May 22, 2023, the patient was reexamined by abdominal computed tomography, and no abdominal space occupying lesions or abdominal lymphadenopathy was found.

Influence of TRAIL Deficiency on Th17 Cells and Colonic Microbiota in Experimental Colitis Mouse Model.

BACKGROUND: The abnormalities of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) are implicated in various autoimmune disorders and tumors. This study investigated the influence of TRAIL deficiency on Th17 cells and colonic microbiota in experimental colitis mouse model. METHODS: Mice were randomly divided into 4 groups: wild-type, TRAIL gene knock-out (TRAIL-/-), wild-type colitis and TRAIL-/- colitis groups. Colitis was induced by oral administration of 3.5% dextran sulfate sodium (DSS) for 7 consecutive days. Mice were given scores for disease severity both clinically and histopathologically. Th17 cells in peripheral blood and mesenteric lymph nodes (MLNs) were assessed using flow cytometry. The expression levels of Th17 cell markers IL-17A and ROR-γt were evaluated by quantitative real-time polymerase chain reaction. The colonic samples were also analyzed for microbiota profile by 16s-rDNA gene sequencing on variable V4 region. RESULTS: Compared with wild-type counterparts, TRAIL-/- mice developed more severe colitis after DSS treatment. Colitis TRAIL-/- mice had increased proportion of Th17 cells and elevated mRNA expression levels of IL-17A and ROR-γt in peripheral blood and MLNs compared with colitis wild-type mice. In contrast to colitis wild-type mice, the composition of colonic microbiota was shifted in colitis TRAIL-/- mice, and was characterized by increased alpha diversity, increased TM7, deferribacteres and tenericutes, and decreased proteobacteria at the phylum level. CONCLUSIONS: These findings suggested that TRAIL deficiency not only aggravated DSS-induced colitis, but also led to enhanced Th17 cell response and altered colonic microbiota composition.

Analysis of visual quality after ICL V4c corrective surgery for highmyopia using the double-pass instrument / 国际眼科杂志(Guoji Yanke Zazhi)

·AIM: To evaluate the effectiveness of visian implantable collamer lens with central hole (ICL V4c) implantation for the correction of high myopia using the double- pass visual quality analysis system. ·METHODS: Totally 60 eyes of 30 high myopia patients who underwent ICL V4c implantation were enrolled into this prospective randomized control study. Myopic degree of selected patients was -6. 0D to -12. 0D, age 18 to 35 years old, best corrected visual acuity ( BCVA ) ≥0. 6, preoperative corneal astigmatism acuities ≤1. 0D. All patients were taken the temporal side transparent corneal incision. The patients were evaluated postoperatively 1wk, 1 and 3mo respectively. The evaluating items included preoperative BCVA, postoperative uncorrected visual acuity ( UCVA), objective scattering index ( OSI), and modulation transfer function ( MTF ) cut off frequency, Strehl ratio (SR), and 100%, 20%, 9% Optical Quality Analysis System ( OQAS ) Value ( OV, contrast visual acuity ). All statistical analyses were performed with SPSS19. 0 statistical software. Variance analysis of repeated measurement data was employed. ·RESULTS: The UCVA gradually improved at 1wk, 1 and 3mo after surgery. There was statistical significance compared with the preoperative BCVA ( P < 0. 01 ). The postoperative OSI, MTF cut off, SR, OV 100%, OV 20% and OV 9% at 1wk, 1 and 3mo showed statistically differences compared with the preoperative values (P<0. 05). ·CONCLUSION: ICL V4c implantation can effectively correct high myopia range from -6. 0D to -12. 0D. The postoperative OSI were smaller than the preoperative OSI. The postoperative UCVA were better than the preoperative BCVA. The value of postoperative MTF cut off, SR, and OV value of 100% , 20% and 9% improved.

Downregulation of microRNA-637 Increases Risk of Hypoxia-Induced Pulmonary Hypertension by Modulating Expression of Cyclin Dependent Kinase 6 (CDK6) in Pulmonary Smooth Muscle Cells.

BACKGROUND The objective of this study was to investigate the molecular mechanism by which miR-637 interferes with the expression of CDK6, which contributes to the development of pulmonary hypertension (PH) with chronic obstructive pulmonary disease (COPD). MATERIAL AND METHODS We used an online miRNA database to identify CDK6 as a virtual target of miR-637, and validated the hypothesis using luciferase assay. Furthermore, we transfected SMCs with miR-637 mimics and inhibitor, and expression of CDK6 was determined using Western blot and real-time PCR. RESULTS In this study, we identified CDK6 as a target of miR-637 in smooth muscle cells (SMCs), and determined the expression of miR-637 in SMCs from PH patients with COPD and normal controls. We also identified the exact miR-637 binding site in the 3'UTR of CDK6 by using a luciferase reporter system. The mRNA and protein expression levels of CDK6 in SMCs from PH patients with COPD were clearly upregulated compared with the normal controls. Cells exposed to hypoxia also showed notably increased CKD6 mRNA and protein expression levels, and when treated with miR-637 or CDK6 siRNA, this increase in CKD6 expression was clearly attenuated. Additionally, cell viability and cell cycle analysis showed that hypoxia markedly increased viability of SMCs by causing an accumulation in S phase, which was relieved by the introduction of miR-637 or CDK6 siRNA. CONCLUSIONS Our study proved that the CDK6 gene is a target of miR-637, and demonstrated the regulatory association between miR-637 and CDK6, suggesting a possible therapeutic target for PH, especially in patients with COPD.

Research progress of primary open angle glaucoma, 24h intraocular pressure and ocular perfusion pressure / 国际眼科杂志(Guoji Yanke Zazhi)

Primary open angle glaucoma ( POAG) is one of the eye diseases which can lead to blindness. The early symptom of POAG is unconspicuous, however, it will result in irreversible optic never damage and visual field defect with the disease progress. As an index for diagnosing and evaluating the therapeutic effect of POAG, intraocular pressure ( IOP ) is simple and important. Clinically, although some treated patients have a target IOP at clinic time, the optic never damage still get worse. Researches indicate that higher nocturnal IOP and 24h IOP variation and lower nocturnal ocular perfusion pressure ( OPP) may be the reasons for this phenomenon. The following essay will give an overview of POAG,IOP and OPP according to the relevant literatures so that we can have a better understanding.

Detection of respiratory viruses in children with acute lower respiratory tract infection: an analysis of 5,150 children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the distribution of respiratory viruses on throat swabs in hospitalized children with acute lower respiratory tract infection (ALRTI).</p><p><b>METHODS</b>A total of 5,150 children with ALRTI who were admitted to Hebei Children's Hospital between March 2014 and February 2015 were enrolled to investigate the distribution of respiratory viruses in children with ALRTI. Direct immunofluorescence assay was performed for throat swabs from these children to detect influenza virus A (FA), influenza virus B (FB), adenovirus (ADV), respiratory syncytial virus (RSV), and parainfluenza virus types 1, 2, and 3 (PIV-1, PIV-2, and PIV-3).</p><p><b>RESULTS</b>Of all the 5,150 throat swabs from hospitalized children, 2,155 (41.84%) had positive virus detection results. RSV had the highest detection rate (1,338 cases/25.98%), followed by PIV-3 (439 cases/8.52%) and FA (166 cases/3.22%), and 29 patients had mixed infection with 2 viruses. With the increasing age, the detection rates of viruses tended to decrease (χ2=279.623; P<0.01). The positive rate of RSV increased gradually from September, and reached the peak value (60.09%) in November; the lowest positive rate occurred in June (1.51%). The positive rate of PIV-3 was the highest in May (21.38%) and the lowest in November (1.77%).</p><p><b>CONCLUSIONS</b>The distribution of viruses in children with ALRTI varies with age and season, with RSV prevalence in autumn and winter and PIV-3 prevalence in spring and summer. RSV is the most common viral pathogen that causes ALRTI in hospitalized children.</p>

Utility of fractional exhaled nitric oxide in children with asthma / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the utility of fractional exhaled nitric oxide (FeNO) in young children at different stages of asthma.</p><p><b>METHODS</b>Fifty-eight children with newly diagnosed asthma (aged 1-3 years) at the acute exacerbation stage between April and June, 2014 were recruited. After 3 months' treatment, the children switched into the chronic persistent stage (n=34) or remission stage (n=24). Thirty aged-matched healthy children served as controls. FeNO levels and lung function were measured for all subjects. The best cut-off value of FeNO for the diagnosis of asthma was evaluated by receiver operating characteristic (ROC) curve.</p><p><b>RESULTS</b>The FeNO levels in children with asthma at various stages were higher than controls (P<0.05). The FeNO levels in the acute exacerbation stage were highest, followed by the chronic persistent stage (P<0.05). FeNO level was correlated to the stages of asthma (r=-0.382, P<0.001). The cut-off value of FeNO for the diagnosis of asthma was 22.75 ppb by ROC curve, with the sensitivity of 0.933 and the specificity of 0.388.</p><p><b>CONCLUSIONS</b>The children with asthma at different stages have different FeNO levels. Measurement of FeNO is useful in the diagnosis of asthma in young children.</p>

Correlation of fractional exhaled nitric oxide with peripheral blood eosinophils and lung function in 1-3-year-old children with asthma / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To examine fractional exhaled nitric oxide (FeNO) values in 1-3-year-old children with asthma and analyze the correlation of FeNO with peripheral blood eosinophils (EOS) and lung function in these children.</p><p><b>METHODS</b>A total of 111 children aged 1-3 years with asthma were enrolled. The children were classified into acute exacerbation (n=62) and remission groups (n=49) according to their symptoms. FeNO values, lung function, and peripheral blood EOS count were measured in these children. Sixty age-matched healthy children were enrolled as the control group.</p><p><b>RESULTS</b>FeNO values were significantly higher in the acute exacerbation group (24.4 ppb) than in the remission group (18.0 ppb) and the control group (13.7 ppb) (P<0.05). The FeNO values in the remission group were significantly higher than in the control group (P<0.05). FeNO values were not significantly correlated with peripheral blood EOS count and lung function parameters (PEF, TEF25, TEF50, and TEF75).</p><p><b>CONCLUSIONS</b>Measurement of FeNO is useful to evaluate the disease activity in children with asthma aged 1 to 3 years, but the FeNO values are not correlated with peripheral blood EOS count and lung function.</p>

Prognostic judgment of children with Mycoplasma pneumoniae pneumonia associated with airway mucous plug formation / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and treatment defects in slow-to-recover children with Mycoplasma pneumoniae pneumonia (MPP) associated with airway mucous plug formation, and to provide a basis for prognostic judgment and therapeutic guidance.</p><p><b>METHODS</b>A retrospective analysis was performed on the clinical data of 67 children with MPP who were admitted between May 2012 and May 2014 and showed airway mucous plug formation in fiberoptic bronchoscope examinations. Based on the results of re-examinations using imaging methods, all patients were classified into a slow-to-recover group (n=30) and a control group (n=37). Comparisons of clinical outcomes, laboratory indices, imaging findings, and treatment methods were performed between the two groups. The receiver operating characteristic (ROC) curves were drawn to analyze the indices with significant differences.</p><p><b>RESULTS</b>The percentage of neutrophils, levels of C-reactive protein (CRP), lactic dehydrogenase (LDH), fibrinogen (FIB), and IgM in peripheral blood, and incidence of pleural effusion were significantly higher in the slow-to-recover group than in the control group (P<0.05). The fever duration and treatment time of azithromycin and fiberoptic bronchoscope for the first time were significantly longer in the slow-to-recover group than in the control group (P<0.05). The results of ROC curve analysis showed that the optimal cut-off points of fever duration, percentage of neutrophils, levels of CRP and FIB, and treatment time of fiberoptic bronchoscope for the first time were 11.5 days, 70.7%, 57 mg/L, 4.7 g/L, and 13.5 days, respectively, with sensitivity and specificity higher than 0.643 and 0.727.</p><p><b>CONCLUSIONS</b>The fever duration, percentage of neutrophils, level of CRP, level of FIB, and treatment time of fiberoptic bronchoscope for the first time can predict a recovery time longer than two months in children with MPP associated with mucous plug formation.</p>

[Effects of acupotomy, electroacupuncture or round-sharp acupuncture needle interventions on expression of Bcl-2, Bax, Caspase-3 proteins of rectus femoris in rabbits with knee ostarthritis].

OBJECTIVE: To observe the effect of acupotomy, electroacupuncture (EA) or round-sharp acupuncture needle intervention on the expression of Bcl-2,Bax and Caspase-3 proteins in the rectus femoris in rabbits with knee ostarthritis (KOA), so as to explore their mechanisms underlying improvement of braking-induced joint damage from the cellular apoptosis. METHODS: Forty-five New Zealand rabbits were equally and randomized into control group, model group, acupotomy (AP) group, EA group and round-sharp acupuncture needle (RSAN) group (n = 9 in each group). The knee-joint injury model was established by fixing the left knee joint in extention position with plaster bandage. EA (2 Hz/100 Hz, 3 mA, 20 min each time) was applied to the left "Yanglingquan" (GB 34)- "Yinlingquan" (SP 9) and left "Neixiyan" (EX-LE 4)- "Waixiyan"(ST 35) for rabbits in the EA group. The EA treatment was given once daily, 3 times a week, 3 weeks in total. For rabbits of the AP group, a needle-knife was held to insert into the front edge of the midpoint, the starting point and the stopping point of the left medial collateral ligamen, lateral collateral ligament and the patellar ligament of the knee to make a loosening manipulation for 5 times in a session of treatment, once a week, 3 times altogether. For rabbits of the RSAN group, a round-sharp needle was performed in the same way to the needle-knife including the stimulation point, the manipulation method and treatment sessions. At the end of the experiment, the left rectus femoris was taken out for detecting the expression of Bcl-2, Bax and Caspase-3 proteins with Western blot. RESULTS: In comparison with the control group, the passive range of motion (PROM) level was significantly decreased 4, 8 and 12 weeks after modeling (P < 0.01), and the expression levels of Bax and Caspase-3 proteins in the rectus femoris were considerably upregulated in the model group (P < 0.05), while the ratio of Bcl-2/Bax was notably down-regulated (P < 0.05) in the model group. Compared with the model group, the PROM level at week 12 after modeling in the AP, EA and RSAN groups were significantly increased (P < 0.01); while Bax and Caspase-3 expression levels in both AP and RSAN groups were considerably downregulated (P < 0.05). No significant differences were found among the five groups in Bcl-2 expression levels (P > 0.05), and between the EA and model groups in Bax and Caspase-3 expression levels and the ratio of Bcl-2/Bax (P > 0.05). CONCLUSION: AP, RSAN and EA interventions are effective in improving the knee-joint motion range in KOA rabbits, and this effect of both AP and RSAN is closely associated with their actions in lowering the expression of Bax and Caspase-3 proteins of the rectus femoris and in raising ratio of Bcl-2/Bax protein (reducing muscular cellular apoptosis). The mechanism of EA intervention in improving PROM may be different.

Preliminary establishment of cytological examination and the normal reference values for hypertonic saline solution-induced sputum of healthy children in Guangzhou / 中华儿科杂志

<p><b>OBJECTIVE</b>To establish the method of cytological examination and the normal reference values for hypertonic saline solution-induced sputum of healthy children (age range from 5 to 15 years) with physical examination in Guangzhou.</p><p><b>METHOD</b>A total of 352 children, 5 to 15 years old, were enrolled from primary school and middle school in Guangzhou from January to December, 2010. All subjects completed a standardized questionnaire on the presence of respiratory, allergic symptoms and family history, the medical history and the physical examination was performed by doctors, lung function (forced expiratory volume at 1 s in predicted normal, FEV(1)%) was determined. There were 266 healthy children (137 males, 129 females) who were selected and undergone hypertonic saline solution induction of sputum, and cytological examination was performed. Hypertonic saline (5%) was nebulized and inhaled for 15 - 30 min. No expectoration within 30 min was defined as failure, and the procedure was terminated. The part of opaque and higher density sputum samples was detected by cytology. The proportion of neutrophils, lymphocytes, eosinophils, macrophages and monocytes was calculated. This study was approved by the institutional Ethics Review Committee of First Affiliated Hospital of Guangzhou Medical College. Informed consent was obtained from the legal guardians of all participants following a detailed description of the purpose and potential benefits of the study.</p><p><b>RESULT</b>There were 175 subjects' induced sputum specimens (175/266, 65.8%), non-qualified sputum samples were obtained from 16 of the subjects. The proportions of median (IQR) of lymphocytes were 0.012 (0.020), 95%CI were ranged from 0.015 to 0.022; neutrophils 0.207 (0.330), 95%CI 0.266 - 0.356 macrophages 0.761 (0.327), 95%CI 0.607 - 0.699; eosinophils 0.004 (0.019), 95%CI 0.013 - 0.022. There were no significant differences in proportions of cytological findings of female or male, different age groups and second-hand smoking or not (all P > 0.05). The incidence of adverse event was 4.40% (7/159).</p><p><b>CONCLUSION</b>The method and the preliminary data may be used for research, diagnosis and treatment of patients with chronic cough and airway inflammation.</p>

Role of flexible bronchoscopy in the diagnosis and treatment of refractory pneumonia in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To evaluate the effectiveness of the flexible bronchoscopy in the diagnosis and treatment of refractory pneumonia among children.</p><p><b>METHODS</b>Sixty children with refractory pneumonia were randomly divided into two groups: lavage and control (n=30 each). The control group received conventional medical treatment. The lavage group was given flexible bronchoscopy besides conventional medical treatment. The therapeutic effects were compared between the two groups. The results of bacterial culture and detection of antibodies against Mycoplasma pneumoniae in bronchoalveolar lavage fluid (BALF) were observed.</p><p><b>RESULTS</b>The coincidence of bacterial culture results between BALF and sputum samples was 63.3%, and there were no significant differences in the positive bacterial culture results between them. The coincidence of PCR test for antibodies against Mycoplasma pneumoniae between BALF and serum samples was 73.3%. The results of Fisher's exact test showed the positive rate of Mycoplasma pneumoniae antibodies of BALF was higher than that of serum (P<0.05). The effective rate in the lavage group was significantly higher than that in the control group (97% vs 73%; P<0.01).</p><p><b>CONCLUSIONS</b>The flexible bronchoscopy is useful for the diagnosis and treatment of refractory pneumonia in children.</p>

Experimental study of TGF-β2 antisense oligodeo- xynucleotide as an anti-scarring agent in glaucoma surgery / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: Currently available anti-scarring regimens for glaucoma filtration surgery have potentially blinding complications and safer alternatives would be beneficial. This experiment is to investigate the effect of TGF-β2 antisense oligodeoxynucleotide on differentiation, proliferation of subconjunctival fibroblast following glaucoma filtration surgery.METHODS: Glaucoma filtration surgery were performed on both eyes of 28 rabbits. TGF-β2 antisense oligodeoxynudeotide was subconjunctivally injected in the right eyes (A group), and TGF-β2 missense oligodeoxynucleotide (B group)or PBS(C group) was used at the same method in the left eyes as controls. Rabbits were killed at 4,7,14 and 28 days after surgery. Intraocular pressure (IOP), bleb characteristics were recorded at different time point. Subconjunctival fibroblasts were examined by immunohistochemistry and electron microscopy.RESULTS: The IOP of rabbits in group A was significantly lower at 14 days (6.74± 1.18 mmHg) and 21 days (8.15± 1.97mmHg) after operation than the IOP in group B (8.53± 1.04,9.72± 1.09 mmHg)(P ＜0.01) and group C(8.79± 1.21, 9.43±1.27 mmHg) (P ＜0.05). The mean bleb survival time was longer (17.2 days) in group A than that of group B (14.5 days) and group C (13.5 days)(P＜0.05). The population of the cells expressing α -smooth muscle actin(α -SMA) and proliferating cell nuclear antigen (PCNA) was significantly reduced in group A compared with the group B and C. The ultrastructure of fibroblast was not altered by TGF-β2 anti-sense oligodeoxynucleotide.CONCLUSION:TGF-β2 antisense oligodeoxynucleotide can prevent the scar formation after glaucoma surgery by inhibit the differentiation and proliferation of subconjunctival fibroblast. It could be a potentially useful anti-scarring alternative for the prevention of late surgical failure.

Influence of the fibroblast activity by TGF-β2 antisense oligonucleotide in corneal stroma injury of rabbit / 国际眼科杂志(Guoji Yanke Zazhi)

· AIM: To investigate the influence of TGF-β 2 antisense oligonucleotide(ASON) on the differentiation, proliferation of stromal fibroblast in corneal stroma injury.both eyes of 28 rabbits, the right eyes were served as experimental group, corneal incisions were sutured with 8-0 coated vicryl suture carrying TGF-β 2 ASON; the left eyes were served as control group, corneal incision were sutured with common 8-0 coated vicryl suture. Rabbits were killed at 4, 7, 14 and 28d after surgery, stromal fibroblasts were examined by immune histochemistry and electron microscopy.significantly reduced the numbers of cells expressingα -smooth muscle actin (α -SMA) and proliferating cell nuclear antigen (PCNA). The ultrastructure of fibroblast had no significant difference in two groups.differentiation and proliferation of stromal fibroblast in corneal injury. This will be a new method to adjust corneal wound repair.

Clinical and laboratory characteristics of two acute lymphoblastic leukemia patients with dicentric (9; 20) (p11 - 13; q11) / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the morphologic, immunophenotypic, cytogenetic and clinical features of acute lymphoblastic leukemia (ALL) patients with dicentric (9; 20) (p11 - 13; q11).</p><p><b>METHODS</b>Chromosome specimens of bone marrow cells were prepared by direct method and/or short-time culture. Karyo-typing was performed by R-banding technique. Dual-color fluorescence in situ hybridization (FISH) was performed using both chromosome 9 classical satellite probe and chromosome 20 alpha-satellite probe in one patient.</p><p><b>RESULTS</b>The two ALL patients were positive for CD10 and HLA-DR, showing of B cell origin. Both patients had dicentric (9; 20): case 1 was 45, XY, der (9) t (9; 20) (p11; q11), -20[20]; case 2 was 45, XX, der (9) t (9; 20) (p13; q11), t (9; 22) (q34; q11), -20[10]/46, idem, +8[16]/47, idem, +8, +21[14]. Mutual translocation between chromosomes 9 and 20 of the dicentric chromosome was confirmed by FISH in one patient.</p><p><b>CONCLUSIONS</b>Dicentric (9; 20) (p11 - 13; q11) is a rare recurring chromosome abnormality associated with ALL. Because of the subtle nature of the translocation, FISH is essential for the detection of this abnormality.</p>

Clinical and experimental study of two cases of myelodysplastic syndromes with double isochromosome 20q- anomaly / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the clinical and laboratory characteristics of two myelodysplastic syndromes (MDS) patients with double isochromosome 20q- anomaly.</p><p><b>METHODS</b>Bone marrow cell chromosome preparations were made with both direct method and short-term culture. Karyotype analysis was performed by R-banding technique, and dual-color FISH (fluorescence in situ hybridization) by using a 20q telomeric probe and a sequence-specific probe for 20q12.</p><p><b>RESULTS</b>The clinical and hematological findings were comparable with diagnosis of MDS. Karyotype analysis showed that both patients had double isochromosome 20q- anomaly: case 1 is 46, XX, der(20)? i(20q-) [6]/46, idem, der (6) i (6p) [1]/47, idem, +der (20)? i (20q-) [3]/47, idem, der(6)i (6p), +der(20)? i (20q-) [20]; case 2 is 45, XY, -7, der (20)? i (20q-) [17]/46, idem, +der(20) ? i(20q-) [3]. Two derivative chromosomes 20 were proved 20q isochromosomes with interstitial deletions by dual-color FISH in one patient.</p><p><b>CONCLUSIONS</b>Double isochromosome 20q- anomaly is a rare recurrent karyotype abnormality in MDS, and signals a poor prognosis.</p>

Microsequencing, analysis of molecular weight and amino acid composition for pyrimidine 5'-nucleotidase I of human erythrocytes / 中国实验血液学杂志

To further explore the mechanism of congenital pyrimidine 5'-nuleotidase I (P5'N-I) deficiency, on the basis of purification of the protein, the molecular weight and amino acid composition were analysed by mass-spectrograph and amino-acid analyzer, microsequencing and bioinformation analysis of P5'N-I were performed after it was hydrolysed by trypsin. The results showed that three fractions were found in the purified P5'N-I and their molecular weights were 26,952.9, 55,476 and 110,938, respectively. The sequence from one of the peptide fragments was I-E-G-P-T-I-R-Q-I-E. The homologous sequence was not found after comparision with the ten-amino-acid sequence in GenBank by blast procedure. Amino acid analysis indicated that P5'N-I was composed of 18 amino acids at least, and 243 amino acid residues. In conclusion, the enzyme might be an allosteric enzyme, there might be homologous dimer or tetramer in physiological status of normal human erythrocyte, the microsequence could be designed as the probe for fishing the genes of interest. The composition of amino acid might be an important information in determination of its protein primary structure.

Establishment of Quantitative Assay for Human Erythrocyte Pyrimidine 5'-Nucleotidase Content by Double Antibody Sandwich ELISA / 中国实验血液学杂志

For exploring pathogenesis of pyrimidine 5'-nucleotidase (P5'N) deficiency, a quantitative assay method for human erythrocyte pyrimidine 5'-nucleotidase was established. The specific substrate uridine monophosphate (UMP) of P5'N was used as ligand. The UPM-ADH-Sepharose 4B affinity column was prepared. P5'N of human erythrocyte was purified by ammonium sulfate fractionation and precipitation, ion chromatography and affinity chromatography. Rabbit anti-human P5'N antibody was acquired by immunizing rabbits with purified P5'N. Using rabbit anti-human antibody as the coated anti-body and HRP-rabbit anti-human antibody as demonstrated anti-body, the double antitody sandwich ELISA for quantitative assay of human erythrocyte P5'N was established after square rank trial, antigen blocked trial and antigen substituted test. Results showed that the titer of rabbit anti-human erythrocyte was 1:4 and the sensitivity of double antibody sandwich ELISA was 5 ng/ml. Its blocking rate was more than 95% and the rate of substitution less than 30%. The content of P5'N was (71.77 + 10.98) ng/mg NHP in normal human erythrocyte. A new ELISA method for quantitative determination of human erythrocyte P5'N was first established. It not only had high specificity and sensitivity but also could assay the minimun content of P5'N as 5 - 20 ng/ml. It could be a suitable method for large sample in clinics.