Purpose To study the pathologic types and subtypes distribution of 645 cases of lymphoma in Xinjiang. Methods Clini-cal data of lymphoma from April 2008 to march 2013 in the people’s hospital of Xinjiang Uygur autonomous region in Xinjiang were col-lected and reviewed, including morphological, immunohistochemical and clinical characteristics. According to the WHO classification all the cases were reappraised. Results Of the 645 cases, 558 cases (86.51%) were non-Hodgkin’s lymphoma (NHL) and 82 ca-ses (12.71%) were Hodgkin’s lymphoma (HL). Among NHL cases, 448 cases (80.29%) were B-cell neoplasms and 110 cases (19.71%) were T/NK-cell neoplasms. The commonest subtype was diffuse large B-cell lymphoma (258 cases, comprising 40% of all lymphomas) and extranodal NK/T-cell lymphoma (41 cases, comprising 6.36% of all lymphomas) in B cell lymphoma and T/NK cell lymphoma. Burkitt’s lymphoma and lymphoblastic leukemia/lymphoma were predominanly Uyghurs, but mantle cell lymphoma, follicu-lar lymphoma and extranodal marginal zone lymphoma of mucosa associated lymphoid tissue were predominanly Hans. The most com-mon subtypes of Hodgkin’s lymphoma are mixed cellularity, nodular sclerosis and lymphocyte-rich classical Hodgkin’s lymphoma. Sub-types distribution of Hodgkin’s lymphoma has a certain difference in the different ethnic groups, the age of onset did not present twin peaks and the highest proportion was children. Conclusion The lymphoid neoplasms of Xinjiang displayed some ethnic features simi-lar to those reported in literature as well as other regions of China, whereas the distribution of some subtypes showed some differences.

OBJECTIVE:To investigate the optimal administration route of ambroxol in the treatment of pediatric respiratory disease. METHODS:Totally 120 children with respiratory disease in pediatric department of our hospital during Jun. 2014-Jun. 2016 were divided into intravenous dripping group and atomization inhalation group according to even and odd-numbered admission order,with 60 cases in each group. Intravenous drip group was given Ambroxol hydrochloride injection 7.5 mg dissolved in 5%glucose solution 50 mL,ivgtt,bid;aerosol inhalation group was given aerosol inhalation of Ambroxol hydrochloride injection 7.5 mg,for 15 min each time,bid. The two groups were treated with 7 d. Clinical efficacies,p(O2)and p(CO2)level,the times of sputum absorption,clinical indexes and the occurrence of ADR were compared between 2 groups. RESULTS:Total response rate of atomization inhalation group(96.67%)was significantly higher than intravenous dripping group(78.33%);p(O2)level was sig-nificantly higher than intravenous dripping group,while the times of sputum absorption,fever disappearance time,asthma disap-pearance time,oxygen therapy time,pulmonary rales disappearance time,cough disappearance time and average hospitalization time were significantly less or shorter intravenous dripping group,with statistical significance (P<0.05). There was no statistical significance in p(CO2) level and the incidence of ADR between 2 groups (P>0.05). CONCLUSIONS:Ambroxol is effective in the treatment of pediatric respiratory disease,and clinical efficacy of atomization inhalation is better than intravenous drop.

Objective To investigate the consistency of gene amplification and its expression at protein level of human epidermal growth factor receptor 2 (HER2) in gastric carcinoma.Methods From 2010 to 2012,120 gastric cancer specimens of patients with gastric cancer were collected,of which 100 were surgical specimens and 20 were specimens from biopsy under gastroscope.The protein expression of HER2 in 120 specimens was detected by immunohistochemistry (IHC).According to the results of IHC,the positive parts of HER2 expression of IHC slices were developed into tissue microarrays for fluorescence in situ hybridization (FISH) to test the gene amplification of HER2.The different parts with different color intensity of focal (+ + +) (≤ 10％ tumor cell strongly staining) specimens detected by IHC detection were compared with the results of FISH.Kappa test was performed for statistical analysis.Results Among 120 gastric cancer specimens,the results of IHC indicated that 77 specimens were positive with different staining intensity including 16 strong positive (+++),six focal positive (+++),37 moderate positive (++) and 18 weak positive (+).The positive rate of HER2 protein expression detected by IHC was 18.3％ (22/120).The results of FISH showed 41 specimens were positive and the rate of gene amplification was 34.2％.Among which,21 were moderate positive (++) detected by IHC,15 were strong positive (+ + +) and five were focal positive (+ ++).The positive rate of HER2 was 35.0％ (42/120) with IHC and FISH combined detection.The consistent rate of IHC and FISH was 91.6 ％ (76/83).Kappa coefficient was 0.960 (P＜0.01).In five positive specimens detected by FISH and which were focal positive (+ + +) by IHC,the different parts with different color intensity were compared with the results of FISH and gene amplification was found in all specimens.Conclusion Tissue microarray technology is consistent with IHC in HER2 detection in gastric cancer specimens and could help to improve the detection rate.

Purpose To exp1ore the c1inicopatho1ogica1 features,diagnosis and differentia1 diagnosis of mu1ti1ocu1ar cystic rena1 ce11 carcinoma( MCRCC). Methods 18 cases of MCRCC were reported by microscopy,immunohistochemistry,differentia1 diagnosis and were fo11owed-up. Results A11 patients were adu1ts inc1uding twe1ve ma1es and six fema1es who aged from 26 to 68 years(mean 55. 6 years). Imaging studies revea1ed a po1ycystic mass,with c1ear boundary. Gross1y,the cut surface of the tumors had more cysts of va-rying sizes,containing serous or b1oody f1uid. Microscopica11y,the cyst wa11s of tumors were often covered with a few simp1e c1ear ce11s,stratified epithe1ium or devoid of epithe1ium. The septa contained aggregates of epithe1ia1 ce11s with transparent cytop1asm which showed gradeⅠ nuc1ear features,these characteristics were diagnostic c1ues of MCRCC. Immunohistochemica11y the c1ear ce11 was positive for CD10,vimentin,EMA and Ki-67 showed 1ow pro1iferative activity. 18 case were fo11owed up,mean fo11ow-up 43 months, no case recurred or with metastasis. Conclusion MCRCC is a rare histo1ogica1 subtype of rena1 ce11 carcinoma with more favorab1e prognosis. It shou1d be distinguished from cystic change of c1ear ce11 rena1 carcinoma and cysts of kidney 1esion.

OBJECTIVETo detect potential mutations in six patients with citrullinemia.

METHODSGenomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing.

RESULTSOne patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23]. Among these, the c.1311T>G mutation was first identified in the Chinese population, and the IVS6-11A>G mutation was a novel variation which may affect the splicing, as predicted by Human Splicing Finder software.

CONCLUSIONThis study has confirmed the molecular diagnosis of citrullinemia in six patients and expanded the mutational spectrum underlying citrullinemia.

Argininosuccinate Lyase ; genetics ; Argininosuccinate Synthase ; genetics ; Citrullinemia ; genetics ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation

OBJECTIVETo investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP).

METHODSHigh liquid chromatography tandem mass spectrometry (HPLC/MS/MS) was applied to screen congenital genetic metabolic disease and eight patients with CDSP were diagnosed among 77 511 samples. The SLC22A5 gene mutation was detected using massarray technology and sanger sequencing. Using SIFT and PolyPhen-2 to predict the function of protein for novel variations.

RESULTSTotal detection rate of gene mutation is 100% in the eight patients with CDSP. Seven patients had compound heterozygous mutations and one patient had homozygous mutations. Six different mutations were identified, including one nonsense mutation [c.760C>T(p.R254X)] and five missense mutations[c.51C>G(p.F17L), c.250T>A(p.Y84N), c.1195C>T(p.R399W), c.1196G>A(p.R399Q), c.1400C>G(p.S467C)]. The c.250T>A(p.Y84N) was a novel variation, the novel variation was predicted to have affected protein structure and function. The c.760C>T (p.R254X)was the most frequently seen mutation, which was followed by the c.1400C>G(p.S467C).

CONCLUSIONThis study confirmed the diagnosis of eight patients with CDSP on the gene level. Six mutations were found in the SLC22A5 gene, including one novel mutation which expanded the mutational spectrum of the SLC22A5 gene.

Adult ; Amino Acid Sequence ; Base Sequence ; Cardiomyopathies ; diagnosis ; genetics ; metabolism ; Carnitine ; deficiency ; genetics ; metabolism ; DNA Mutational Analysis ; methods ; Female ; Gene Frequency ; Genotype ; Humans ; Hyperammonemia ; diagnosis ; genetics ; metabolism ; Infant, Newborn ; Male ; Muscular Diseases ; diagnosis ; genetics ; metabolism ; Mutation ; Organic Cation Transport Proteins ; genetics ; metabolism ; Reproducibility of Results ; Sensitivity and Specificity ; Sequence Homology, Amino Acid ; Solute Carrier Family 22 Member 5 ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

OBJECTIVETo study the in vitro effects of low-molecular weight heparin (LMWH) and dexamethasone on the hemolysis of red blood cells from paroxysmal nocturnal hemoglobinuria (PNH) patients.

METHODSBy Ham's test and micro-complement lysis sensitive test (mCLST), the changes of hemolysis of red blood cells from 6 PNH patients were tested by adding different doses of LMWH and dexamethasone into the test mixture. The effects of LMWH and dexamethasone on the coagulation of the tested blood samples were also studied by activated partial thromboplastin time (APTT).

RESULTS(1) Either LMWH or dexamethasone could dose-dependently inhibit the hemolysis of PNH red blood cells, and the effects were synergistic when added together. The same dose of LMWH induced a less than 100% prolongation of APTT. (2) Dexamethasone could inhibit the hemolysis in Ham's test and had different effects on the hemolysis by different adding methods in mCLST. LMWH could inhibit the hemolysis in both Ham's test and mCLST.

CONCLUSIONBoth LMWH and dexamethasone could inhibit the hemolysis of PNH red cells and showed a synergistic effect. The mechanisms of the inhibition of hemolysis were different. Furthermore, a tolerable dose of LMWH induced only a limited prolongation of APTT, which might be useful for controlling acute hemolysis and reducing the dose of dexamethasone.

Anti-Inflammatory Agents ; pharmacology ; Dexamethasone ; pharmacology ; Dose-Response Relationship, Drug ; Erythrocytes ; cytology ; drug effects ; Hemoglobinuria, Paroxysmal ; blood ; Hemolysis ; drug effects ; Heparin, Low-Molecular-Weight ; pharmacology ; Humans ; Partial Thromboplastin Time

OBJECTIVETo detect the quantity, proportion and function of producing cytokines of Th1 and Th2 cells in aplastic anemia (AA) patients and their contribution to the hematopoietic failure.

METHODS(1) Eleven patients with severe aplastic anemia (SAA) at diagnosis were observed by Marsh's method for the CFU-E, BFU-E and CFU-GM before and after depletion of CD(4)(+) T lymphocytes from bone marrow mononuclear cells (BMMNC); (2) Th1 (CD(4)(+) IFN-gamma(+)) and Th2 (CD(4)(+) IL-4(+)) cells in peripheral blood mononuclear cells (PBMNC) of 21 SAA patients and 17 normal controls were counted by FACS. (3) mRNA expression of IFN-gamma and IL-4 gene in unstimulated BMMNC from 16 SAA patients, 11 chronic aplastic anemia (CAA) patients, 26 other hematological diseases patients and 11 normal controls were measured by reverse transcriptase polymerase chain reaction (RT-PCR).

RESULT(1) CFU-E, CFU-GM and BFU-E increased significantly after depletion of CD(4)(+) T lymphocytes from BMMNC of SAA patients. (2) The percentage of IFN-gamma producing CD(4)(+) T cell (Th1) of SAA patients was significantly higher than that of controls, the percentages of IL-4 producing CD(4)(+) T cells (Th2) had no difference between SAA patients and normal controls. (3) IFN-gamma mRNA was detected in unstimulated BMMNC in 13 of 16 SAA patients, 6 of 11 CAA patients and one of 6 paroxysmal nocturnal hemoglobinuria (PNH) patients. The IFN-gamma mRNA was not detected in unstimulated BMMNC of 11 normal controls and other hematological diseases patients.

CONCLUSIONSDisbalance of CD(4)(+) T lymphocytes subsets and increases in quantity and IFN-gamma producing function of Th1 cells might be important for the development of bone marrow failure in AA and in distinguishing AA from other kinds of pancytopenic diseases.

Adolescent ; Adult ; Anemia, Aplastic ; blood ; etiology ; Colony-Forming Units Assay ; Erythroid Precursor Cells ; cytology ; Female ; Granulocytes ; cytology ; Hematopoietic Stem Cells ; cytology ; Humans ; Interferon-gamma ; genetics ; Interleukin-4 ; genetics ; Macrophages ; cytology ; Male ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Th1 Cells ; cytology ; metabolism ; physiology ; Th2 Cells ; cytology ; metabolism

OBJECTIVE To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I (GA-I). METHODS Genomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene were amplified with PCR and subjected to direct sequencing. RESULTS Four mutations of the GCDH gene were identified among the patients, which included c.532G>A (p.G178R), c.533G>A (p.G178E), c.106_107delAC (p.Q37fs*5) and c.1244-2A>C. Among these, c.1244-2A>C was the most common, while c.106_107delAC was a novel mutation, which was predicted to be pathogenic by MutationTaster software. CONCLUSION The diagnosis of GA-I has been confirmed in all of the five patients. Identification of the novel GCDH mutations has enriched the mutational spectrum of the GCDH gene.