Objective To investigate the clinical significance of CD55,CD59 and Aeromonas hydrophila toxin variant (FLAER) in the diagnosis of anemia and paroxysmal nocturnal hemoglobinuria (PNH).Methods Collected 30 healthy controls,22 cases of PNH,33 cases of aplastic anemia (AA),37 cases of iron deficiency anemia (IDA),45 cases of megaloblastic anemia (MA),30 cases of hemolytic anemia (HA) and 31 cases of myelodysplastic syndrome (MDS) from January 2009 to March 2017,CD55,CD59 and FLAER negative cell ratio of peripheral blood neutrophil of them were detected by multipa rameter flow cytometry.Results The detection rates of FLAER in PNH,AA and MDS groups were higher than those of CD55 and CD59,but there was significant difference in AA (x2 =7.759,5.518,P=0.005,0.019＜0.05).The average CD55,CD59 and FLAER deletion rate in PNH and AA group were significantly higher than those in normal control group and other groups (t=2.163～17.890,P=0.000～0.038＜0.05).The number of FLAER in PNH group was higher than CD59 and CD59 was higher than CD55 with the statistically significant difference (t=2.503 ～ 6.308,P=0.000 ～0.016＜ 0.05).Conclusion CD55,CD59 and FLAER have important value in the diagnosis of PNH and differential diagnosis with other anemia diseases,and can also be used to detect the presence of MDS and AA in patients with PNH.FLAER outperforms CD59,CD59 outperforms CD55.

Objective To approach curative effect of using DLI +IL-2 as immunobiotherapy after Mixed-HSCT in acute myelogenous leukemia.MethodAfter times of chemotherapy,8 cases of patients with acute myelogenous leukemia received Mixed-HSCT,then were treated with DLI +IL-2 for 2-7 times.Observed clinical effect for 1 to 5 years.Result DFS in 8 cases of patients with acute myelogenous leukemia received Mixed-HSCT and treated with DLI +IL-2 for 2-7 times were 62.5%.There were no GVHD.Conclusion Immuno-biotherapy with DLI +IL-2 after Mixed-HSCT in patients of acute myelogenous leukemia may be a method to increase DFS efficiently.

To evaluate the use of allogeneic peripheral blood stem cell transplantation (allo-PBSCT) for treatment of acute and chronic leukemia, from March 1997 to January 2003, 21 adult patients with malignant hematopoietic diseases underwent allo-PBSCT from HLA-identical siblings (19 patients) and haplo-identical mother (one) and one B point site mismatched sibling (one). All donors were mobilized with G-CSF for 4 days and peripheral blood stem cells were collected by CS-3000 separator. The conditioning regimen included the high dose combination chemotherapy and TBI. Cyclosporine-A (CsA) plus a short course of MTX was used for GVHD prophylaxis in all patients. The results showed that after trans plantation, median time for the recovery of granuocyte > or = 0.5 x 10(9)/L and platelets > or = 20 x 10(9)/L were 12 (10 - 20) and 15 (11 - 35) days, respectively. Acute GVHD was observed in 8/17 patients (47%), of which one transplanted from HLA-haploidentical mother. Chronic GVHD occurred in 12/17 patients (70%). All of four female survivals did not show acute and chronic GVHD. Day 100 transplantation-related mortality was 14% (3/21). Relapse occurred in two patients (9.5%) who underwent allo-PBSCT in stage of non-remission at one and six months. After follow-up of 40 (15 - 70) months, 11 patients (52.4%) are still disease-free survival. These results suggested that peripheral blood stem cells produce a faster hematopoietic recovery and a lower relapse of leukemia. The rate of aGVHD is not increased when using the peripheral blood as source of stem cells; however, cGVHD continues to be a significant problem. Donors tolerated the procurement procedure without complications.
Adolescent ; Adult ; Female ; Graft vs Host Disease ; etiology ; Humans ; Leukemia ; therapy ; Male ; Middle Aged ; Peripheral Blood Stem Cell Transplantation ; Transplantation, Homologous ; Treatment Outcome

OBJECTIVETo evaluate the clinical effect of a 10-day sequential therapy which was made up of omeprazole, clarithromycin, amoxicillin-clavulanate and metronidazole for the eradication of Helicobacter pylori (Hp) infection in children.

METHODA total of 214 children with abdominal pain, who were confirmed to have Hp infection through endoscopy, biopsy, and Hp culture. The 214 cases were randomly divided into four groups. A 10-day sequential therapy group accepted omeprazole 0.8 - 1.0 mg/(kg·d) plus amoxicillin-clavulanate 50 mg/(kg·d) for five days and omeprazole 0.8 - 1.0 mg/(kg·d), clarithromycin 20 mg/(kg·d) and metronidazole 20 mg/(kg·d) for the remaining five days. The 7-day triple therapy group, 10-day triple therapy group and 14-day triple therapy group received omeprazole 0.8 - 1.0 mg/(kg·d), amoxicillin-clavulanate 50 mg/(kg·d) and clarithromycin 20 mg/(kg·d) for 7 days,10 days,14 days, respectively. All drugs were given twice daily. All these patients received (13)C urea breath test ((13)C-UBT) four weeks after the treatment.

RESULTFinally, 199 patients were followed up, and the total rate of loss to follow-up was 7.0% (15/214). Hp eradication rate was 85.2% and 90.2% in the 10-day sequential therapy group on intention to treat (ITT) and per protocol (PP) analyses, 66.0% and 71.4% in the 7-day triple therapy group on ITT and PP analyses; 60.0% and 67.3% in 10-day triple therapy group on ITT and PP analyses, and 78.8% and 82.0% in patients who received the 10-day sequential regimen on ITT and PP analyses, respectively. By ITT analysis, there was significantly difference between the 10-day sequential therapy group and 7-day or 10-day triple therapy group (P < 0.05), while no significant difference was found between the 10-day sequential therapy group and 14-day triple therapy group (P > 0.05). The results of the ITT analysis and the PP analysis were the same. The four groups had neither significant difference in abdominal pain relief (P > 0.05) nor in incidence of adverse reactions (P > 0.05).

CONCLUSIONThe 10-day sequential regimen was significantly more effective than both 7-day triple regimen and 10-day triple regimen, while had the same eradication rate compared with the 14-day sequential therapy. But 10-day triple regimen to eradicate Hp infection in children had the advantages such as short course of treatment and better compliance.

Administration, Oral ; Adolescent ; Amoxicillin ; administration & dosage ; adverse effects ; Anti-Bacterial Agents ; administration & dosage ; adverse effects ; Anti-Ulcer Agents ; administration & dosage ; Breath Tests ; methods ; Child ; Child, Preschool ; Clarithromycin ; administration & dosage ; adverse effects ; Drug Administration Schedule ; Drug Therapy, Combination ; Female ; Helicobacter Infections ; drug therapy ; Helicobacter pylori ; drug effects ; isolation & purification ; Humans ; Male ; Metronidazole ; administration & dosage ; adverse effects ; Microbial Sensitivity Tests ; Omeprazole ; administration & dosage ; adverse effects ; Time Factors ; Treatment Outcome

OBJECTIVETo evaluate the efficacy and safety of balloon dilation (BD) with gastroscope in treatment of esophageal stricture in children.

METHODSBD was performed in 12 children aged 5 - 59 months, average age 26 months, course of disease was 2 - 26 months, with esophageal stricture, 7 cases with anastomotic strictures secondary to surgical repair of esophageal atresia, 3 with congenital esophageal stenosis, 2 with corrosive esophageal strictures. All procedures were performed under tracheal intubation and intravenous anesthesia using the 3rd grade controlled radial expansion (CRE) esophagus-balloon with gastroscope. Firstly the balloon was inserted into the esophagus through mouth, then put in the gastroscope. Under the direct guidance of gastroscope the balloon was positioned across the stricture, then the balloon was filled with saline to get needed pressure and maintained for 3 minutes. The procedure was repeated 3 times at an interval of 3 minutes. The abdominal pain, melena and vomiting were observed, as well as the diet taken thereafter, the size of the stricture and the nutrition status were observed for 3 to 12 months after the dilation.

RESULTSTwenty-two dilations were performed in 12 cases, 19 succeeded, 3 cases developed complication during the dilation, the total success rate was 86%. The procedure failed in 3 cases and succeeded in 9 cases, the effective rate was 75%. Follow-up and repeated gastroscopy were performed within 3 to 12 months after the dilation, the diameter of the stricture was 9-13 mm, compared with 2-8 mm before the dilation. Eight of the children could take solid food and nutritional status was improved.

CONCLUSIONSBD with the 3rd grade CRE esophagus-balloon under gastroscopy is a simple and effective method to treat esophagus stricture in children, especially for anastomotic strictures secondary to surgical repair of esophageal atresia.

Catheterization ; methods ; Child, Preschool ; Esophageal Stenosis ; therapy ; Gastroscopes ; Humans ; Infant ; Treatment Outcome

OBJECTIVETo investigative vacA, cagA and iceA genes dominant genotypes of Helicobacter pylori (Hp) isolated from children suffering from gastric and duodenal diseases in Guangzhou area.

METHODSTotally 105 children who underwent gastroscopy in Guangzhou Children's Hospital were enrolled into this study. From each patient, 3 biopsy specimens from the gastric antrum were taken, one was used for rapid urease test, one for histological examination, and one for polymerase chain reaction (PCR) for detecting ureA, vacA, cagA, and iceA genes. DNA was prepared directly from the biopsy specimens from the gastric antrum using a QIAamp DNA mini kit (Qiagen, Germany) according to the manufacturer's instructions. Then 11 primers were used for detecting the genotypes including ureas, (s1, s1a, s1b, s1c, s2) and m (m1, m1T, m2) region of vacA, cagA and iceA (iceA1 and iceA2) genotypes in the 105 children. The distribution of the genotypes of Hp was analyzed.

RESULTAmong the 105 children, only 52 children were positive by the three methods, among these 52 children, 26 were boys and 26 girls. Hp vacA s1as1c/m2 was detected in 43 out of 52 children (82.7%), s1as1c/m1T in 9.6% (5/52), m region that could not betyped was 7.7% (4/52). No strains presented genotypes vacA s1b, s2, m1. The comparison of the positive ratio of vacA s1as1 c/m2 detected in the children infected with Hp and that of the other combination of signal region and middle region was statistically significantly different (P < 0.01). With regard to cagA gene, cagA(+) gene and cagA(-) gene were found in 90.4% (47/52) and 9.6% (5/52) of the children, respectively. The cagA(+) gene was more frequent in the children infected with Hp. Single iceA1 was detected in 78.8% (41/52) children, and single iceA2 was detected to be 1.9% (1/52), multiple strains infection of iceA1 and iceA2 were detected in 3.8% (2/52) children, iceA1 and iceA2 were not detected in 15.4% (8/52), the comparison of the positive ratio of iceA1 detected in the children infected with Hp and that of the other genotypes was statistically significantly different (P < 0.01).

CONCLUSIONThe s1as1c/m2, cagA and iceA1 were the dominant genotypes of Hp in the children in Guangzhou area and s1as1c/m2, cagA and iceA1 were the dominant genotypes combination of Hp in the children in this area.

Antigens, Bacterial ; genetics ; therapeutic use ; Bacterial Outer Membrane Proteins ; genetics ; Bacterial Proteins ; genetics ; Child ; China ; epidemiology ; Female ; Genes, Bacterial ; drug effects ; genetics ; Genotype ; Helicobacter Infections ; drug therapy ; genetics ; Helicobacter pylori ; genetics ; Humans ; Male ; Polymerase Chain Reaction ; Pyloric Antrum ; microbiology

OBJECTIVETo assess the accuracy of detection by automated breast volume scanner (ABVS) in diagnosis of high-risk and small breast lesions.

METHODSOne hundred and twelve patients with solid high-risk and small breast lesions were identified by ABVS. The patients were divided into benign lesion group and cancer group after pathological examination. The clinicopathological findings and ultrasonographic features of the lesions were compared.

RESULTSAmong the 112 lesions there were 49 benign and 63 malignant lesions. The mean size on ABVS and pathology were (1.59 ± 0.52) cm and (1.52 ± 0.58) cm. There was no significant difference in tumor sizes determined by ABVS and pathology (P = 0.194). The mean age of patients with benign lesions was (38.5 ± 7.4) years and that of malignant lesions was (52.4 ± 13.6) years, showing a significant difference between the two groups (P < 0.001) . The mass shape, orientation, margin, lesion boundary, echo pattern, calcification, BI-RADS category and retraction phenomenon were significantly different of the malignant and benign masses (P < 0.05). But there was no significant difference in the location of lesions and posterior acoustic features (P > 0.05) . Retraction phenomenon was significantly associated with pathological type and histologic grade of the breast cancer (P < 0.01). The specificity, sensitivity and accuracy of retraction phenomenon were 100% (46/46), 73.0% (46/63), and 84.8% (95/112), respectively.

CONCLUSIONSABVS provides advantages of better size prediction of high-risk and small breast lesions. Furthermore, the retraction phenomenon in coronal plane shows high specificity and sensitivity in detecting breast cancer.

Adult ; Age Factors ; Aged ; Aged, 80 and over ; Breast Neoplasms ; diagnostic imaging ; pathology ; Carcinoma, Ductal, Breast ; diagnostic imaging ; pathology ; Female ; Fibroadenoma ; diagnostic imaging ; pathology ; Humans ; Image Enhancement ; methods ; Image Interpretation, Computer-Assisted ; methods ; Imaging, Three-Dimensional ; methods ; Middle Aged ; Retrospective Studies ; Sensitivity and Specificity ; Tumor Burden ; Ultrasonography, Mammary ; methods ; Young Adult

OBJECTIVETo investigate the correlation between the HLA genes and pathogenesis of aplastic anemia (AA), so as to find the susceptible AA genes.

METHODSPolymerase chain reaction with specific sequence primers (PCR-SSP) method was used to detect the HLA typing of 50 AA patients and 183 normal healthy individuals as controls in Chinese Han population of northwestern plateau.

RESULTSThe frequency of HLA-A* 0201 (45.0%), B* 1501 (11.0%), B* 5501 (9.0%) and DRB1* 0901 (19.0%) gene frequences in AA patients were significantly higher than those in controls (Odds Ratio: OR=1.657, 2.138, 2.314 and 1.932, x2=4.882, 3.876, 3.863 and 4.473 (P<0.05). In contrast, A* 0301 gene frequency (4.0%) in AA was significantly lower than that in controls, OR=0.349, x2=4.154 (P<0.05). The male HLA-A* 0201 gene frequency was lower than that in female (38.2% vs 59.4%), and the difference was statistically significant (P<0.05). Concludsion: The HLA-A* 0201, B* 1501, B* 5501 and DRB1* 0901 genes may be considered as the risk markers while A* 0301 gene as a protective marker of AA, the HLA-A* 0201 also shows the sex differences.

Alleles ; Anemia, Aplastic ; genetics ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Gene Frequency ; HLA-DRB1 Chains ; genetics ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic

Aim To explore the material basis of anti-tumor effect of Compound Muji Granules. Methods The anti-tumor pharmacodynamics of Compound Muji Granules in vitro was studied by microfluidic chip technology. The fingerprint of Compound Muji Granules was established by HPLC. The "Spectrum-Material-Effect" of Compound Muji Granules was analyzed by grey correlation analysis,partial least squares regression analysis and network pharmacology approach. Results Seven batches of Compound Muji Granules with different extraction methods were successfully established. The results of grey correlation analysis showed that there was a positive correlation between Compound Muji Granules and 7 of the 14 components with pharmacodynamic correlation coefficient >0.80. The contribution of anti liver tumor was peak number 48(luteolin)>6(gallic acid)>19(chlorogenic acid)>59(quercetin)>67(kaempferol)>65(naringin)>38(ellagic acid),in that order. Conclusions Through the establishment of "Spectrum-Material-Effect" research method,it is clear that the above seven active monomers may be the anti-tumor material basis of Compound Muji Granules.

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*