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1.
Asian Journal of Andrology ; (6): 197-204, 2021.
Article in English | WPRIM | ID: wpr-879740

ABSTRACT

Oligoasthenoteratozoospermia (OAT) refers to the combination of various sperm abnormalities, including a decreased sperm count, reduced motility, and abnormal sperm morphology. Only a few genetic causes have been shown to be associated with OAT. Herein, we identified a novel homozygous frameshift mutation in meiosis-specific nuclear structural 1 (MNS1; NM_018365: c.603_604insG: p.Lys202Glufs*6) by whole-exome sequencing in an OAT proband from a consanguineous Chinese family. Subsequent variant screening identified four additional heterozygous MNS1 variants in 6/219 infertile individuals with oligoasthenospermia, but no MNS1 variants were observed among 223 fertile controls. Immunostaining analysis showed MNS1 to be normally located in the whole-sperm flagella, but was absent in the proband's sperm. Expression analysis by Western blot also confirmed that MNS1 was absent in the proband's sperm. Abnormal flagellum morphology and ultrastructural disturbances in outer doublet microtubules were observed in the proband's sperm. A total of three intracytoplasmic sperm injection cycles were carried out for the proband's wife, but they all failed to lead to a successful pregnancy. Overall, this is the first study to report a loss-of-function mutation in MNS1 causing OAT in a Han Chinese patient.

2.
Asian Journal of Andrology ; (6): 236-245, 2020.
Article in Chinese | WPRIM | ID: wpr-842456

ABSTRACT

The syndrome of multiple morphological abnormalities of the sperm flagella (MMAF) is a specific kind of asthenoteratozoospermia with a mosaic of flagellar morphological abnormalities (absent, short, bent, coiled, and irregular flagella). MMAF was proposed in 2014 and has attracted increasing attention; however, it has not been clearly understood. In this review, we elucidate the definition of MMAF from a systematical view, the difference between MMAF and other conditions with asthenoteratozoospermia or asthenozoospermia (such as primary mitochondrial sheath defects and primary ciliary dyskinesia), the knowledge regarding its etiological mechanism and related genetic findings, and the clinical significance of MMAF for intracytoplasmic sperm injection and genetic counseling. This review provides the basic knowledge for MMAF and puts forward some suggestions for further investigations.

3.
Article in Chinese | WPRIM | ID: wpr-817758

ABSTRACT

@#【Objective】To study retrospectively the serum hepatitis B surface antigen(HBsAg)and HBsAg normal⁃ ized to the same hepatic parenchyma cell volume(HPCV),namely,the same hepatic cell quantities,between HBeAg- positive and HBeAg-negative chronic hepatitis B(CHB).【Methods】A total of 168 CHB patients who had undergone liv⁃ er biopsy and test of serum HBsAg levels due to their disease in the Third Affiliated Hospital of SunYat-sen University were selected as the study subjects. The serum HBsAg levels,as well as HBsAg levels normalized to HPCV(hepatic cell quantities)were compared between HBeAg-positive and HBeAg-negative CHB,respectively.【Results】There was statis⁃ tically significant difference in serum HBsAg levels between HBeAg-positive and HBeAg-negative CHB(P = 0.028), while there was no statistical difference in HBsAg normalized to HPCV(P = 0.073). There were no correlations between serum HBsAg and liver inflammation grades(HBeAg-positive:r s = 0.020,P = 0.876 & HBeAg-negative:r s = 0.037,P =0.711). Similarly,there were no correlations between HBsAg and hepatic fibrosis stages(HBeAg-positive:r s = 0.087, P = 0.488 & HBeAg-negative:r s = 0.144,P = 0.148). Nevertheless,statistically significant positive correlations were shown between HBsAg normalized to HPCV and liver inflammation grades(HBeAg-positive:r s = 0.309,P = 0.012 & HBeAg-negative:r s = 0.389,P < 0.001). Similarly,the HBsAg normalized to HPCV and hepatic fibrosis stages were shown to be statistically significantly correlated(HBeAg-positive:r s = 0.490,P < 0.001 & HBeAg-negative:r s = 0.599, P < 0.001).【Conclusions】Serum HBsAg normalized to HPCV but not HBsAg levels,is correlated with liver inflamma⁃ tion grades as well as hepatic fibrosis stages positively in both HBeAg-positive and HBeAg-negative CHB. But there is no difference in serum HBsAg levels normalized to HPCV between HBeAg-positive and HBeAg-negative CHB.

4.
Article in Chinese | WPRIM | ID: wpr-771913

ABSTRACT

OBJECTIVE@#To investigate the effect of Rictor on the hematopoiesis of fetal liver by specific knock-out of Rictor in hematopoietic cells of Vav-Cre mice.@*METHODS@#E12.5 0.08ee fetal liver cells from the experimental group Vav-Cre; Rictor embryos and control group Rictor or Rictor embryos were transplanted to recipients respectively to observe the effect of Rictor on reconstitution ability of hematopoietic stem cells. In the meantime, E14.5 0, 10, 20, 40, 60, 80 sorted hematopoietic stem cells from the Vav-Cre; Rictor fetal liver of experimental group and Rictor or Rictor fetal liver of control group were transplanted in to recipients to analyze the numbers of functional hematopoietic stem cells after Rictor was knocked-out. Furthermore, the self-renewal capacity was investigated by secondary transplantation of BM cells from primary recipients that had been successfully repopulated with E12.5 fetal liver-derived cells and by cell cycle analysis.@*RESULTS@#All the recipients receiving E12.5 Rictor or Rictor cells were repopulated (8/8, from 2 independent experiments) with an average chimerism of 77.2%±11.1% at 4 months post-transplantation, which resulted in 57 LT-RU per FL. In comparison, 8 out of 8 recipients receiving Vav-Cre; Rictor cells were repopulated with significantly reduced chimerism (37.0%±16.3%) (P<0.01), which was equivalent to 8 LT-RU per FL. The limiting dilution transplantation experiment showed that there was one functional hematopoietic stem cell out of 17 sorted SLAM cells in the control group, and one functional hematopoietic stem cell out of 39 sorted SLAM cells in the experimental group. The secondary transplantation experiments showed that 2 out of 4 recipients were reconstructed in the control group after 1 month, and 0 was reconstructed in the experimental group by transplanting 4×10 donor cells respectively. What's more, the percentage of S/G/M cells in the experimental group increased when compared with controls.@*CONCLUSION@#In the process of fetal liver hematopoiesis, the specifically knocking-out the Rictor in hematopoietic system can lead to defect of reconstitution ability, decrease of the functional hematopoietic stem cell numbers and reduction of self-renewal ability of hematopoietic stem cells.


Subject(s)
Animals , Fetus , Hematopoiesis , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Liver , Mice , Rapamycin-Insensitive Companion of mTOR Protein
5.
Article in Chinese | WPRIM | ID: wpr-271892

ABSTRACT

<p><b>OBJECTIVE</b>To knock out PDK1 by using Vav-Cre and observe the effects of PDK1 knock out on the ratio, number and differentiation of neutrophil.</p><p><b>METHODS</b>The PDK1 expression level of Vav-Cre;PDK1mouse in the bone marrow cells was analyzed by RT-PCR. The effect of PDK1 on hematopoietic progenitor was observed by CFU-C assay, and the effect of PDK1 on the ratio and number of neutrophil was detected by flow cytometric analysis.</p><p><b>RESULTS</b>The RNA expression level of bone marrow cells of Vav-Cre;PDK1mouse was dramatically lower than that of the control mouse. The number of functional GMP was lower in Vav-Cre;PDK1mouse in contrast to controls. The percentage and number of neutrophil were lower, but the percentage of premyelocyte/myelocytes was more than 2 times in Vav-Cre;PDK1group compared with control groups.</p><p><b>CONCLUSION</b>PDK1 affects the process of the differention of hematopoietic stem cells to GMP, the neutrophil differention and maturation.</p>

6.
Chinese Mental Health Journal ; (12): 964-970, 2017.
Article in Chinese | WPRIM | ID: wpr-703957

ABSTRACT

Objective:To investigate the dyadic coping and intimacy in gynecological cancer patients and their partners,and to explore the association between the two aspects.Methods:A total of 180 postoperative couples with gynecological cancer from 4 tertiary hospitals were investigated with Dyadic Coping Inventory (DCI) and Short Marital Adjustment (MAT).The relationship between couples,dyadic coping and intimacy were analyzed with the Actor-Partner Interdependence Model (APIM).Results:APIM result showed that in the actor effect patients' and spouses'supportive dyadic coping,delegated dyadic coping and common dyadic coping were positive associated with their own intimacy (B =1.77-4.41),patients'and spouses'negative dyadic coping were both adversely associated with their own intimacy (B =-2.81,-2.66).The partner effect showed that patients' supportive dyadic coping and delegated dyadic coping were both positive associated with spouses'intimacy (B =1.00,4.07),spouses'delegated dyadic coping and common dyadic coping were both positive associated with patients' intimacy (B =2.67,2.60),patients' and spouses'negative dyadic coping were negatively associated with partner'intimacy (B =-1.67,-1.40).Conclusion:It suggests that the dyadic coping may be associated with both patients'and partners' intimacy.

7.
Article in Chinese | WPRIM | ID: wpr-304268

ABSTRACT

<p><b>OBJECTIVE</b>To analyze and compare the characteristics of musculoskeletal ultrasonography and X-ray of knee osteoarthritis, and to investigate the advantages of them.</p><p><b>METHODS</b>According to the inclusion and exclusion criteria, 57 cases (66 knees) were collected from February 2015 to May 2015. Among them, there were 48 females and 9 males with an average age of (58.9 +/- 9.8) years old (ranged, 41 to 78 years old). The main symptoms included unilateral or bilateral knee pain and locked joints explicit areas of tender points. The mean course of disease was (13.6 +/- 3.0) months. The results of musculoskeletal ultrasound and X-ray examinations were analyzed.</p><p><b>RESULTS</b>According to Kellgren-Lawrence classification of knee joint on the X-ray: the musculoskeletal ultrasound results of patients with I degree synovial hyperplasia in 9 cases, joint effusion in 20 cases, meniscal disease in 13 cases, patellar pad inflammation in 5 cases, and patellar lesion in 8 cases. The musculoskeletal ultrasound results of patients with III degree: synovial hyperplasia in 20 cases,joint effusion in 31 cases, meniscal disease in 22 cases, patellar pad inflammation in 16 cases and patellar lesion in 17 cases. The musculoskeletal ultrasound results of patients with III degree: synovial hyperplasia in 6 cases,joint effusion in 6 cases, meniscal disease in 7 cases, patellar pad inflammation in 7 cases and patellar lesion in 5 cases.</p><p><b>CONCLUSION</b>The musculoskeletal ultrasound can detect the pathological changes of knee soft tissue sensitively, provide an accurate location of lesions,and find lesions early. The musculoskeletal ultrasound should be applicated in the diagnosis of knee osteoarthritis.</p>


Subject(s)
Adult , Aged , Female , Humans , Knee Joint , Diagnostic Imaging , Male , Middle Aged , Muscle, Skeletal , Diagnostic Imaging , Osteoarthritis, Knee , Diagnosis , Diagnostic Imaging , Radiography , Ultrasonography
8.
Journal of Experimental Hematology ; (6): 1622-1626, 2016.
Article in Chinese | WPRIM | ID: wpr-332639

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the role of NF-κB inhibitor in occurence and development of AML.</p><p><b>METHODS</b>AML and normal bone marrow samples were collected from 8 AML patients and 8 normal persons. The expression of NF-κB signaling pathway genes was detected by NF-κB PCR array. Then, AML mouse model was constructed to test the role of NF-κB inhibitor in AML.</p><p><b>RESULTS</b>The NF-κB signal pathway was activated in AML patients. The up-regulated genes, EDARADD, TNFSF14, could activate the NF-κB signal pathway, IL6 could regulate the inflammatory signal. The down-regulated genes, TNFRSF 10B, TNFRSF1A, could lead to cell apoptosis. the AML mouse model was constructed successfully. Then administration of NF-κB inhibitor reduced the inhibition of leukemia niche to the normal hematopoietic stem cells (HSCs), promoted the HSC to enter into cell cycle.</p><p><b>CONCLUSION</b>The NF-κB signal pathway is activated in AML cells. AML mouse model is constructed successfully. NF-κB inhibitor has a potential to treat AML and promotes the HSC to enrter into cell cycle.</p>

9.
Article in Chinese | WPRIM | ID: wpr-360033

ABSTRACT

<p><b>OBJECTIVE</b>To explore the role of PDK1 in T-ALL development through establishing the Notch1-induced T-ALL mouse model by using Mx1-cre; LoxP system to knock-out PDK1.</p><p><b>METHODS</b>Cell cycle and apoptosis of leukemic cells were detected by flow cytometry, and relative expression of tumor-related genes and transcription factors of leukemic cells were determined by quantitative real-time PCR.</p><p><b>RESULTS</b>Notch1-induced T-ALL mouse model with inducible knock-out of PDK1 was established successfully. Compared to T-ALL control mouse model, PDK1 knock-out mice showed a significant longer survival time (P<0.01). There was no difference of cell cycle between control and PDK1 knock-out mice, and the apoptosis rate of leukemic cells in PDK1 knock-out mice was higher than that of control mice (P<0.001). PDK1 knock-out resulted in decreased expression of tumor-related genes and transcription factors, such as c-Myc and NF-κB (P<0.01), and increased expression level of P53 (P<0.01).</p><p><b>CONCLUSION</b>PDK1 knock-out can inhibit the development of T-ALL, and its mechanism may be the leukemia progression inhibited by regulating the apoptosis and expression of multiple related genes and transcription factors.</p>


Subject(s)
Animals , Apoptosis , Cell Cycle , Disease Models, Animal , Gene Expression Regulation, Leukemic , Mice , Mice, Knockout , NF-kappa B , Genetics , Metabolism , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma , Genetics , Protein-Serine-Threonine Kinases , Genetics , Proto-Oncogene Proteins c-myc , Genetics , Metabolism , Real-Time Polymerase Chain Reaction , Receptor, Notch1 , Genetics , Tumor Suppressor Protein p53 , Genetics , Metabolism
10.
Article in English | WPRIM | ID: wpr-91225

ABSTRACT

The breeding of domestic rabbits (Oryctolagus cuniculus) for human consumption has a long tradition in China. Infections that can affect the production of meat or even be transmitted from animals to humans are important to monitor, especially for public health reasons as well as for their impact on animal health. Thus, a total of 1,132 domestic rabbit sera from 4 regions in China were collected for serological screening for Encephalitozoon cuniculi and for Toxoplasma gondii by ELISA and modified agglutination test (MAT), respectively. Antibodies to E. cuniculi were detected in 248/1,132 (21.9%) sera tested while antibodies against T. gondii revealed a seroprevalence of 51/1,132 (4.5%). We believe that the present results are of epidemiological implications and public health importance due to the acknowledged susceptibility of humans to E. cuniculi and T. gondii infections. Therefore, routine screening tests of domestic rabbits are proposed considering the zoonotic potential of these parasites.


Subject(s)
Animals , Animals, Domestic/blood , Antibodies, Fungal/blood , Antibodies, Protozoan/blood , China/epidemiology , Encephalitozoon cuniculi/immunology , Encephalitozoonosis/blood , Female , Male , Rabbits/blood , Seroepidemiologic Studies , Toxoplasma/immunology , Toxoplasmosis, Animal/blood
11.
Article in Chinese | WPRIM | ID: wpr-331030

ABSTRACT

This study was aimed to analyze the expression profiles of PI3K/AKT signaling pathway genes from bone marrow samples of AML and ALL patients and normal samples. AML, ALL and normal bone marrow samples were collected from 6 AML, 6 ALL patients and 4 normal persons. The expression of PI3K/AKT signaling pathway genes including PTEN, CCND1, mTOR, RICTOR, FOXO1 were detected by real-time fluorescent quantification RT-PCR while GAPDH gene expression was used as an internal reference. The relative gene expression level was calculated by the method of the 2(-ΔΔCt). The results showed that the gene expression profiles were different between normal and leukemic groups. PTEN, mTOR and RICTOR expression levels were down-regulated, while FOXO1 and CCND1 levels were up-regulated in AML and ALL. PTEN was down-regulated in 10 out of the 12 samples; mTOR was down-regulated in 9 out of the 12 samples; RICTOR was down-regulated in 7 out of the 12 samples; FOXO1 was up-regulated in 9 out of the 12 samples and CCND1 was up-regulated in 7 out of the 12 samples. It is concluded that PI3K/AKT signal pathway is activated in both AML and ALL leukemic cells.


Subject(s)
Carrier Proteins , Genetics , Metabolism , Case-Control Studies , Cyclin D1 , Genetics , Metabolism , Forkhead Box Protein O1 , Forkhead Transcription Factors , Genetics , Metabolism , Gene Expression Regulation, Leukemic , Humans , Leukemia , Genetics , Metabolism , PTEN Phosphohydrolase , Genetics , Metabolism , Proto-Oncogene Proteins c-akt , Metabolism , RNA, Messenger , Genetics , Rapamycin-Insensitive Companion of mTOR Protein , Signal Transduction , TOR Serine-Threonine Kinases , Genetics , Metabolism , Transcriptome
12.
Chinese Medical Journal ; (24): 2720-2726, 2010.
Article in English | WPRIM | ID: wpr-285758

ABSTRACT

<p><b>OBJECTIVE</b>A general review was made of studies involving: (1) the concept and mechanism of the cholinergic anti-inflammatory pathway (CAP), (2) the important role of inflammatory response in myocardial ischemia reperfusion (I/R) injury and (3) the evidence and mechanisms by which CAP may provide protection against myocardial I/R injury.</p><p><b>DATA SOURCES</b>The data used in this review were mainly from manuscripts listed in PubMed that were published in English from 1987 to 2009. The search terms were "vagal nerve stimulation", "myocardial ischemia reperfusion injury", "nicotine acetylcholine receptor" and "inflammation".</p><p><b>STUDY SELECTION</b>(1) Clinical and experimental evidence that the inflammatory response induced by reperfusion enhances myocardial I/R injury. (2) Clinical and laboratory evidence that the CAP inhibits the inflammation and provides protection against myocardial I/R injury.</p><p><b>RESULTS</b>The myocardial I/R injury is really an inflammatory process characterized by recruitment of neutrophils into the ischemic myocardium and excessive production of pro-inflammatory cytokines. Because the CAP can modulate the inflammatory response by decreasing the production and release of pro-inflammatory cytokines, it can provide protection against myocardial I/R injury.</p><p><b>CONCLUSIONS</b>The CAP can inhibit the inflammatory response induced by reperfusion and protect against myocardial I/R injury. It represents an exciting opportunity to develop new and novel therapeutics to attenuate the myocardial I/R injury.</p>


Subject(s)
Animals , Cytokines , Metabolism , Humans , Inflammation , Allergy and Immunology , Models, Biological , Myocardial Reperfusion Injury , Allergy and Immunology , Metabolism , Vagus Nerve Stimulation
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