ABSTRACT
As a crucial transcription factor for spermatogenesis, GATA-binding protein 4 (GATA4) plays important roles in the functioning of Sertoli and Leydig cells. Conditional knockout of GATA4 in mice results in age-dependent testicular atrophy and loss of fertility. However, whether GATA4 is associated with human azoospermia has not been reported. Herein, we analyzed the GATA4 gene by direct sequencing of samples obtained from 184 Chinese men with idiopathic nonobstructive azoospermia (NOA). We identified a missense mutation (c.191G>A, p.G64E), nine single-nucleotide polymorphisms (SNPs), and one rare variant (c.
ABSTRACT
OBJECTIVE@#To explore the clinical and cytogenetic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) based on morphology define.@*METHODS@#A total of 180 newly diagnosed acute myeloid leukemia (AML) patients were enrolled and retrospectively analyzed, and marrow cell morphology of 126 patients were re-evaluated. The clinical and cytogenetic characteristics, including ages, sex, WBC count, HGB level, PLT count, blasts percentage, abnormal karyotype detection rate of the patients in AML with multilineage dysplasia (AML-MRC-1), secondary AML from myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) (AML-MRC-2), and AML not otherwise specified (AML-NOS) groups were investigated.@*RESULTS@#There was no significant differences between the patients in three groups in terms of sex, age and platelet count (P=0.898, P=0.365, P=0.853), but AML-MRC-2 group (73.2%) was higher than AML-MRC-1 (60.0%) and AML-NOS (56.4%) in the percentages of patients over 60 years old (P=0.228); there were statistically significant differences on WBC count, HGB level, and blasts percentage (P=0.000, P=0.022, P=0.000, AML-MRC-2Subject(s)
Humans
, Middle Aged
, Cytogenetic Analysis
, Cytogenetics
, Leukemia, Myeloid, Acute/genetics
, Myelodysplastic Syndromes/genetics
, Retrospective Studies
ABSTRACT
This study was purposed to explore the application value of fluorescence in situ hybridization (FISH) detection in differential diagnosis of chronic myeloproliferative disorders (CMPD) and Ph(+) acute lymphoblastic leukemia (Ph(+) ALL), as well as in dynamic monitoring of minimal residual disease (MRD) after treatment. The BCR/ABL fusion gene of newly diagnosed and treated cases was detected by using BCR/ABL (ES) probe and BCR/ABL (DF) probe respectively. The results showed that among 49 newly diagnosed cases considered as CMPD, 28 cases met the criterion of CML morphologically, out of them 23 cases were eventually diagnosed to be CML and with morphological consistent rate 82.1% (23/28), the sensitivity and specificity all were 100% (23/23). The BCR/ABL positive rate of eventually diagnosed cases was 81.3% ± 17.7%. Among 13 cases received allogeneic haemopoietic stem cell transplantation (allo-HSCT), 9 cases achieved long-term disease-free survival and 4 cases relapsed, the several monitoring for whom after donor lymphocyte infusion (DLI) and imatinib treatment or allo-HSCT showed BCR/ABL negative. Among 16 cases treated with imatinib, 11 cases remained BCR/ABL negative after 1 year; 5 cases showed BCR/ABL positive during 6, 7 and 10 years after treatment, respectively, but out of them BCR/ABL positive in 1 case turned negative after allo-HSCT. It is concluded that the FISH is sensitive and specific diagnostic technique, the detection of BCR/ABL fusion gene in newly diagnosed and treated cases by using 2 different probes can help to fast and accurately determine the differential diagnosis for CML and Ph(+) ALL, and dynamically monitor the MRD after treatment with imatinib and allo-HSCT.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Diagnosis, Differential , Fusion Proteins, bcr-abl , Genetics , In Situ Hybridization, Fluorescence , Myeloproliferative Disorders , Diagnosis , Pathology , Neoplasm, Residual , Pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Diagnosis , Pathology , Retrospective Studies , Sensitivity and SpecificityABSTRACT
<p><b>OBJECTIVE</b>To establish a method for internal quality control (IQC) of sperm concentration test in the laboratory.</p><p><b>METHODS</b>We set the concentrations of frozen semen at 20 x 10(6) and 80 x 10(6) as low and high concentrations of putative IQC products, with QC-BEADSTM quality control beads (QCBs) as the control. Using the double-blind method, four technicians determined the sperm concentrations of the IQC products and QCBs by computer-assisted sperm analysis, and drew a quality control chart (Xbar chart and Sbar chart) for each product. Through a month of continuous detection, we calculated and compared the intra- and inter-batch coefficients of variation (CV%) of the quality control products of high and low concentrations.</p><p><b>RESULTS</b>The intra-batch coefficients of variation of the assumed IQC products of high and low concentrations were CV3.5% and CV2.4%, and their inter-batch coefficients of variation were CV10.2% and CV9.6%. The intra-batch coefficients of variation of the QCBs of high and low concentrations were CV5.1% and CV7.1%, and their inter-batch coefficients of variation were CV7.1% and CV8%. The intra-batch coefficients of variation of both IQC products and QCBs of high and low concentrations were <10%, and their inter-batch coefficients of variation were <15%, which conformed to Levey-Jennings quality control principles and achieved IQC purposes. No significant differences were found in either intra- or inter-batch coefficients of variation between the IQC products and QCBs of high and low concentrations (P>0.05), indicating that assumed IQC products can replace QCBs for internal quality control in the laboratory.</p><p><b>CONCLUSION</b>The IQC method we established for determining sperm concentration is simple, feasible and reliable.</p>
Subject(s)
Humans , Male , Double-Blind Method , Quality Control , Semen Analysis , Methods , Reference Standards , Semen Preservation , Sperm Count , Sperm Motility , SpermatozoaABSTRACT
<p><b>OBJECTIVE</b>To study the expressions and clinical significances of p-extracellular regulated kinase(P-ERK)1/2 and matrix metalloproteinase-9(MMP-9)in cervical squamous cell carcinoma.</p><p><b>METHODS</b>The expressions of P-ERK1/2 and MMP-9 in 30 cases with chronic cervicitis, 45 cases with cervical intraepithelial neoplasia (CIN), and 58 cases with cervical squamous cell carcinoma were detected by immunohistochemical method.</p><p><b>RESULTS</b>The positive rates of P-ERK1/2 and MMP-9 in chronic cervicitis, CIN, and cervical squamous cell carcinoma were 0 and 0, 28.9% and 24.4%, 77.6% and 65.5%, respectively, showing significant differences among these three groups (χ(2)= 54.393,p=0.003;χ(2)=40.968,p=0.005). The positive rates of P-ERK1/2 and MMP-9 in patients at clinical stages 2-3, at G3, with lymphatic metastasis, or with a tumor diameter greater than 4 cm were significantly higher than those at clinical stage 1(p=0.015,p=0.002), at G1-G2(p=0.013,p=0.017), without lymphatic metastasis (p=0.017,p=0.021), or with a tumor diameter less or equal than 4 cm in cervical squamous cell carcinoma(p=0.008,p=0.004). There was a positive correlation between P-ERK1/2 and MMP-9 in cervical squamous cell carcinoma (χ(2)=8.955,p=0.006).</p><p><b>CONCLUSIONS</b>The expressions of P-ERK1/2 and MMP-9 increase gradually with the progression of cervical squamous cell carcinoma. The over expressions of P-ERK1/2 and MMP-9 may promote the infiltration of cervical squamous cell carcinoma and lymphatic metastasis, druing which these two enzymes may exert their effects in a synergistic manner.</p>
Subject(s)
Female , Humans , Carcinoma, Squamous Cell , Pathology , Matrix Metalloproteinase 9 , Metabolism , Mitogen-Activated Protein Kinase 1 , Metabolism , Mitogen-Activated Protein Kinase 3 , Metabolism , Uterine Cervical Neoplasms , PathologyABSTRACT
<p><b>OBJECTIVE</b>To study the effect of chronic multiple stress on learning and memory, and the expression and activation of cerebral extracellular signal-regulated protein kinase (ERK) 1/2 of rats in vivo.</p><p><b>METHODS</b>Ninety male SD rats were divided randomly into control group and stress group. Rats in stress group were stressed everyday by one of the seven stressors including cold exposure, foot shock, white noise, restraint, tail hung up, sleep deprivation, and level shake, and then the ability of learning and memory was determined by Morris water maze test. Serum corticosterone (CORT) level was determined by radioimmunoassay kit. Western blot was performed to determine the expression and phosphorylation of ERK in hippocampus and prefrontal cortex of the brain.</p><p><b>RESULTS</b>The escape latencies of stressed rats were substantially longer than those of the controls in the water maze test (P < 0.01) except a transient recovery at the end of the third week after the stress. The stress also resulted in significantly higher serum CORT level and decreased P-ERK level in hippocampus and prefrontal cortex (PFC) (P < 0.01). Similarly, transient elevation of both CORT and P-ERK levels were observed at the end of the third week.</p><p><b>CONCLUSION</b>Chronic multiple stress can lead to impaired learning and memory by decreasing the phosphorylation of ERK in the hippocampus and PFC. The partial recovery of learning and memory, CORT and P-ERK levels at the end of the third week may due to the adaptation of the rats to stressors.</p>
Subject(s)
Animals , Male , Rats , Cerebral Cortex , Corticosterone , Blood , Extracellular Signal-Regulated MAP Kinases , Metabolism , Hippocampus , Maze Learning , Physiology , Memory Disorders , Phosphorylation , Rats, Sprague-Dawley , Stress, PhysiologicalABSTRACT
The aim of this study was to gain more insight into the understanding of myelodysplastic syndrome in the clinical and laboratory features. The clinical data of 65 patients with MDS were reviewed and analysed. According to FAB criteria, 65 patients were classified as follows: 27 patients with RA, 1 patient with RAS, 33 patients with RAEB, 3 patients with RAEB-T, and 1 patient with CMML. The median age of them was 66 years old (range 19-89 years), and 6 patients had a history of toxic exposure (secondary MDS). The bone marrow smears, bone marrow biopsy and cytogenetic examinations were performed in this study. The results showed that dysplasia was found in 64 patients examined with bone marrow smears (98.5%), among them trilineage dysplasia in 21 patients (32.3%), bilineage dysplasia in 33 patients (50.8%), only erythroid dysplasia in 8 cases (12.3%) and 2 patients (3.1%) only with myeloid dysplasia. The bone marrow biopsy was performed in 38 patients, abnormal localization of immature precursor (ALIP) occurred in 6 cases. 29 patients had abnormal karyotypes, accounting for 59.2% of the 49 patients subjected cytogenetic examination. The abnormal chromosome was the major cytogenetic abnormality, which occurred more often in secondary MDS and the patients with RAEB or RAEB-T. Among the 49 patients who had received cytogenetic examination, 15 patients transformed into AML with the incidence of 30.61%, but only 3 out of 20 patients in the group of normal chromosome transformed into AML (15%), while 12 out of 29 patients in the group of abnormal karyotypes transformed into AML (41.4%). The median time of following up was 35 months (range 2 - 106 months). The median survival time was 26.8 months and 8 months in the patients with normal karyotype and chromosome aberrations respectively. In conclusion, the incidence of MDS in our country is younger than that in Western countries, the rate of abnormal chromosome in high risk MDS is higher than that in low risk MDS. Meanwhile, those who have the change of chromosome are related to the transformation of MDS into AML and have shorter survival time than those MDS patients with normal karyotypes.