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An 11-year-old girl was found to have pale complexion and anemia with gradual aggravation for one year. She was weak in the past and developed pneumonia in the right middle lung 3-5 times per year, which was improved after anti-infective therapy. She and her mother had congenital deaf-mutism. Physical examination showed the appearance of anemia, without bleeding, jaundice, hepatosplenomegaly, or lymph node enlargement. Routine blood test results showed reductions in all three blood cell lines, normocytic anemia, and megaloblastoid change in granulocytic and erythroid cell lines in bone marrow, with no obvious increase in primitive cells or metastatic tumor cells. Whole exome sequencing indicated the presence of a known pathogenic mutation for Emberger syndrome (ES), c.1084C>T (p.Arg362*) in the GATA2 gene. The girl was finally diagnosed with ES, and myelodysplastic syndrome (MDS) progressed to acute myeloid leukemia during follow-up. ES is a rare type of MDS with autosomal dominant inheritance in clinical practice, and it is difficult to make a confirmed diagnosis. ES should be considered for children with unexplained lymphedema and congenital deafness, and gene detection should be performed to make a confirmed diagnosis.
Subject(s)
Child , Female , Humans , Anemia , GATA2 Transcription Factor , Lymphedema , Mutism , Myelodysplastic SyndromesABSTRACT
OBJECTIVE@#To explore the effects of hydrogen on liver injury in chronic intermittent hypoxia rats and the related oxidative stress mechanism.@*METHODS@#Twenty-four male adult SD rats were randomly divided into 3 groups(=8):the normoxia group (Norm), the chronic intermittent hypoxia group (CIH), the chronic intermittent hypoxia and hydrogen group (H + CIH). Rats in Norm group were exposed in air, those in the other 2 groups suffered from chronic intermittent hypoxia conditions for 5 weeks. Before the CIH treatment, rats in H+CIH group inhaled hydrogen gas at 67% concentration for 1 hour. The serum biochemical indicators of oxidative stress, pro-inflammatory cytokine, liver enzyme and blood lipid were inspected after five weeks treatment, the pathological changes of liver tissue were also observed in the transmission electron microscope.@*RESULTS@#Compared with Norm group, the microstructure of liver cells was severely injured, and the serum levels of glutamic-pyruvic transaminase(ALT),glutamic-oxalacetic transaminase (AST) were significantly higher in CIH group (<0.05); the serum level of 8-hydroxy-2 deoxyguanosine(8-OHdG) and interleukin-6(IL-6) was significantly higher, the serum level of superoxide dismutase (SOD) was significantly lower. Compared with CIH group, the pathology of liver microstructure were significantly improved and the serum levels of ALT, AST were significantly lower in H+CIH group (<0.05); the serum levels of 8-OHdG and IL-6 were significantly lower, the serum level of SOD was significantly higher. Compared with Norm group, the serum level of IL-1 was higher, the serum level of TC, TG, and low density lipoprotein(LDL) were lower, but there was no statistical difference with those in CIH group. There was no statistical difference in the serum level of high density lipoprotein (HDL)among the three groups.@*CONCLUSIONS@#Pre-treatment with hydrogen could improve the liver injury caused by chronic intermittent hypoxia, and reducing oxidative stress level for protecting the liver cells damage.
Subject(s)
Animals , Male , Rats , Hydrogen , Pharmacology , Hypoxia , Liver , Liver Diseases , Therapeutics , Oxidative Stress , Random Allocation , Rats, Sprague-DawleyABSTRACT
The purpose of this study is to investigate the effect of the oral endothelin antagonist Bosentan on blood pressure and renal sympathetic nerve activity (RSNA) in rats exposed to chronic intermittent hypoxia (CIH), and to explore the sympathoexcitation mechanism of endothelin-1 (ET-1) in CIH-induced hypertension. Twenty-four male SD rats were randomly divided into normoxia, CIH and Bosentan groups. Rats in the normoxia group were exposed to normoxic environment, and rats in CIH or Bosentan group were exposed to intermittent hypoxia for 3 weeks. Bosentan was given at 50 mg/kg by intragastric administration before intermittent hypoxia exposure in Bosentan group. Systolic blood pressure (SBP) was measured by BP-2000, and the change of RSNA to sodium nitroprusside (SNP) or phenylephrine (PE) was recorded by PowerLab signal acquisition system. Serums of all rats were collected and the contents of ET-1 and norepinephrine (NE) were measured by ELISA. Results showed that blood pressure was gradually increased following CIH exposure compared with the normoxia group during the 3 weeks (P < 0.01, P < 0.01, P < 0.001). The basal RSNA was increased and baroreflex sensitivity was decreased in rats exposed to CIH. Furthermore, the blood pressure was positively correlated with the level of ET-1 in serum in rats exposed to CIH (r = 0.833, P = 0.01). Bosentan administration significantly decreased SBP and basal RSNA, increased the baroreflex sensitivity, and decreased serum NE level in rats exposed to CIH. These results suggest that ET-1 is related with blood pressure elevation in rats exposed to CIH, and Bosentan reverses CIH-induced hypertension by decreasing RSNA.
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By briefly sorting out the urgent academic conundrums in acupuncture-moxibustion and the bottlenecks during its development in the time of internet plus, this article analyzed the historical background, forecasted the development orientation, and summarized the significance of the digitization of acupuncture-moxibustion: to promote the education of acupuncture-moxibustion major; to conform to needs of culture and knowledge popularization of traditional Chinese medicine; to protect and excavate the traditional knowledge of Chinese medicine; to promote the international communication of acupuncture-moxibustion, and implement the "One Belt, One Road" proposition.
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Objective To compare the clinical effect between gestrinone and levonorgestrel intrauterine system in the treatment of patients with endometrial polyps after transcervical resection of polyp (TCRP).Methods A total of 225 endometrial polyps patients underwent TCRP were selected from January 2014 to January 2017 in Zhengzhou Central Hospital.The patients were divided into group A,B and C according to the postoperative treatment,75 cases in each group.The patients in group A were treated with gestrinone from the fifth day after operation.The patients in the group B were treated with levonorgestrel intrauterine system at the 3-5 days of the first menstruation after operation.The patients in group C were not given any treatment after operation.All patients were followed up for 6 months.The endometrial thickness,the recurrence of endometrial polyps and the improvement of abnormal uterine bleeding of patients in the three groups were observed.Results The recurrence rate of endometrial polyps in group A,B and C was 16.00％ (12/75),1.33％ (1/75) and 38.67％ (29/75) respectively;the improvement rate of abnormal uterine bleeding was 92.00％ (69/75),86.67％ (65/75) and 88.00％ (66/75) respectively.The recurrence rate of endometrial polyps in group A and B was significantly lower than that in group C (x2 =9.700,32.667;P ＜ 0.05),and the recurrence rate of endometrial polyps in group B was significantly lower than that in group A (x2 =10.191,P ＜ 0.05).There was no significant difference in the improvement rate of abnormal uterine bleeding among the three groups (x2 =1.170,P ＞ 0.05).There was no significant difference in endometrial thickness among the three groups before and one month after operation (P ＞ 0.05).Three months after operation,the endometrial thickness in group A and B was significantly less than that in group C (P ＜ 0.05),but there was no significant difference in endometrial thickness between group A and B (P ＞ 0.05).Six months after operation,the endometrium thickness in group B was significantly less than that in group A and C (P ＜ 0.05),but there was no significant difference in endometrial thickness between group A and C (P ＞ 0.05).Conclusion Gestrinone and levonorgestrel intrauterine system assisted TCRP for endometrial polyps can significantly reduce the recurrence rate of endometrial polyps,inhibit endometrial hyperplasia,and the effect of levonorgestrel intrauterine system is better than that of gestrinone.
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Objective: To explore the expression and clinical significance of serum long chain non-encoded RNAANRIL (LncRNA ANRIL) in chronic heart failure (CHF) patients. Methods: Our research included in 2 groups: CHF group, n=120 patients treated in our hospital and Control group, n=28 healthy subjects at the same period of time. Based on NYHA classification, CHF patients were further divided into 4 subgroups: NYHAⅠ subgroup, n=28, NYHA Ⅱ subgroup, n=34, NYHA Ⅲ subgroup, n=35 and NYHA Ⅳ subgroup, n=23. Expressions of serum ANRIL and cystatin C were examined by real time fluorescence quantitative PCR (QRT-PCR) and compared between 2 groups; the relationship between ANRIL, cystatin C and cardiac function were studied. Results: Compared with Control group, CHF group had increased serum levels of ANRIL and cystatin C, P<0.05. ANRIL expression was gradually increasing by cardiac function decreasing in CHF I to CHF Ⅳ subgroups, P<0.05. Correlation analysis found that serum level of ANRIL was positively related to cystatin C (r=0.873, P<0.001). ANRIL was elevated by increased left ventricular end diastolic diameter and decreased ejection fraction, both P<0.05. Conclusion: Serum ANRIL level has been related to CHF at certain degree which may indirectly reflect the severity of HF in relevant patients.
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By briefly sorting out the urgent academic conundrums in acupuncture-moxibustion and the bottlenecks during its development in the time of internet plus, this article analyzed the historical background, forecasted the development orientation, and summarized the significance of the digitization of acupuncture-moxibustion: to promote the education of acupuncture-moxibustion major; to conform to needs of culture and knowledge popularization of traditional Chinese medicine; to protect and excavate the traditional knowledge of Chinese medicine; to promote the international communication of acupuncture-moxibustion, and implement the "One Belt, One Road" proposition.
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<p><b>OBJECTIVE</b>To investigate the incidence and clinical features of mixed infections in children with Mycoplasma pneumoniae (MP) pneumonia.</p><p><b>METHOD</b>A total of 201 cases diagnosed as MP pneumonia were investigated for mixed infections by sputum bacterial culture, respiratory virus antigen detection and serum Chlamydia pneumoniae antibody test. For those with the indications for bronchoscopy, we also did bronchoalveolar lavage and lavage bacterial culture.</p><p><b>RESULT</b>A high incidence (103/201, 51.2%) of mixed infections in children with MP pneumonia was revealed. The most frequent co-infected pathogen was Chlamydia pneumoniae (52, 25.9%), followed by viruses (29, 14.4%), and bacteria (22, 10.9%). Among viruses, respiratory syncytial virus was the most common (17, 8.5%), followed by adenovirus (6, 3.0%), parainfluenza virus type III (4, 2.0%) and influenza virus type B (2, 1.0%). Sputum bacterial culture was positive in 14/201 (7.0%) cases, Streptococcus pneumonia being most common (6, 3.0%). BALF culture yielded positive results in 11.6% (8/69), Streptococcus pneumonia was also common (5, 7.3%). Among 29 cases with MP and virus coinfection, 26 were younger than 3 years (89.7%), while for MP and Chlamydia pneumoniae coinfection, most of them were older than 3 years (40/52, 76.9%). Compared with non-mixed infections, those with mixed infections had longer fever duration (24.5% and 40.8% longer than 10 d), more frequently developed pleural effusion (11.2%, 23.3%) and large area of shadow in chest imaging (35.7%, 51.5%). White blood cell [(14.28 ± 4.99) × 10(9)/L], C-reactive protein (CRP) [69(32.5 - 99.5) mg/L] and neutrophil ratio in BALF [0.86 (0.63 - 0.91)] were much higher in children with mixed bacterial infections than that in non-mixed infections [(9.06 ± 3.47) × 10(9)/L, 3 (0 - 31.0) mg/L, 0.44 (0.03 - 0.88)]. But no significant difference was found in peripheral blood neutrophil proportion between mixed bacterial infections (0.38 ± 0.25) and non-mixed infections (0.51 ± 0.19).</p><p><b>CONCLUSION</b>More than half of cases with MP pneumonia had mixed infections, most commonly caused by Chlamydia pneumonia followed by viruses. The incidence of mixed infections with bacteria was low. Mixed infections with virus were more common in young children, while mixed infection with Chlamydia pneumoniae was more common in older ones. Bacterial infections should be paid more attention, especially those caused by Streptococcus pneumoniae, for those with high peripheral white blood cell counts, high CRP levels and high proportion of neutrophils in BALF.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Chlamydophila pneumoniae , Coinfection , Inpatients , Mycoplasma pneumoniae , Pneumonia, Mycoplasma , Diagnosis , Microbiology , Virology , Pneumonia, Viral , Diagnosis , Respiratory Syncytial VirusesABSTRACT
<p><b>OBJECTIVE</b>To determine whether oxygen-glucose deprivation (OGD) induces C6 cell injury, and whether 5-lipoxygenase (5-LOX)/cysteinyl leukotriene (CysLT) pathway is involved in OGD-induced injury.</p><p><b>METHODS</b>After OGD treatment and recovery for various durations, the viability of C6 cells was determined, and the effects of 5-LOX inhibitors and CysLT receptor antagonists were investigated. Intracellular distribution of 5-LOX protein was detected by immunocytochemistry, and the mRNA expressions of CysLT1 and CysLT2 receptors were detected by RT-PCR. The effect of leukotriene D(4) (LTD(4)) on C6 cells was also investigated.</p><p><b>RESULT</b>OGD for 4-8 h followed by recovery for 24-72 h significantly induced C6 cell injury. Neither 5-LOX inhibitors nor CysLT receptor antagonists inhibited OGD-induced injury. OGD did not induce 5-LOX translocation into the nuclear membrane. C6 cells highly expressed CysLT(2) receptor, but the expression of CysLT1receptor was much weaker; the expression was not affected by OGD. In addition, LTD(4) did not affect C6 cells significantly.</p><p><b>CONCLUSION</b>OGD can induce C6 cell injury, but 5-LOX/CysLT pathway might be not involved in OGD-induced injury.</p>