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Objective To report a case of pulmonary alveolar microlithiasis ( PAM) in Peking Union Medical Col-lege Hospital and to summarize the clinical features and genetic characters .Methods The clinical features , ima-ging results , pathology findings and SLC34 A2 gene mutation was analyzed and reported .Results The patient was a 35 years old male, presenting with cough and sputum for 10 years and worsen with short of breath for 3 weeks. Computed tomography of lung and pathology findings support the diagnose of pulmonary alveolar microlithiasis .And a heterozygous mutation c .A910 T in exon 8 of SLE34 A2 gene was discovered through genetic testing .Conclusions Since to the treatment is non-specific in this rare disease , it's significantly important to recognize this disease through early non-specific clinical features but typical imaging findings .And the finding that c .A910 T is more common in Asia population may provide us a potential target for screening and possible genetic engineering therapy .
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AIM:To investigate the specific anti-tumor effects of mature dendritic cells ( DCs) transfected with amplified mucin 1 ( MUC1) mRNA in vitro.METHODS:DCs separated and purified from the peripheral blood mononu-clear cells were induced in vitro and then identified by flow cytometry .pcDNA3.1(+)-MUC1 plasmid was constructed and was able to transcribe MUC1 mRNA in vitro.The MUC1 mRNA was transfected into DCs by electroporation .MUC1-trans-fected DCs were used to induce T cells to be cytotoxic T-lymphocytes .Quantitative real-time PCR was performed to assess MUC1 mRNA expression in transfected DCs .The proliferation of T cells was examined by MTT assay .The proportion of CD8 +cells in the T cells was determined by flow cytometry and the specific cytotoxicity was measured by LDH assay .The secretion of IFN-γwas detected by ELISA .RESULTS: The marker gene expression in the DCs transfected with MUC 1 mRNA was significantly increased compared with control group , peaking at 24 h.The transfection group showed the higher capacity to stimulate the proliferation of T cells compared with control group when the ratio of DCs to T cells was 1∶10.The proportion of CD8 +cells in transfection group was higher than that in control group .The lethal effect of special cytotoxic T-lymphocytes on target cells in transfection group was stronger than that in control group .The level of IFN-γin the cell su-pernatant of transfection group was higher than that in control group .CONCLUSION:DCs plus MUC1 mRNA by electri-cal transfection induces specific anti-tumor effects , which provides an experiment evidence of using MUC 1 as a target for immunotherapeutic strategy against non-small cell lung cancer .
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<p><b>BACKGROUND</b>Obstructive sleep apnea hypopnea syndrome (OSAHS) is underdiagnosed. Screening patients at high risk of OSAHS is extremely important. Using the standard questionnaire to screen OSAHS is a practical method. This study aimed to evaluate the value of the STOP-Bang questionnaire (SBQ) in screening OSAHS in sleep-disordered breathing clinic by comparing it with the Epworth sleepiness scales (ESS), Berlin questionnaire, and STOP questionnaire.</p><p><b>METHODS</b>In this study, 212 patients at the sleep-disordered breathing clinic of the Peking Union Medical College Hospital between May 2011 and January 2012 were prospectively included. They were asked to fill in the SBQ, ESS, Berlin questionnaire, and STOP questionnaire before overnight polysomnography (PSG). Using PSG as gold standard, the sensitivities and specificities of SBQ were compared with those of ESS, Berlin questionnaire, and STOP questionnaire.</p><p><b>RESULTS</b>There was no significance in applying ESS score ≥11 to screen OSAHS and detect moderate and severe OSAHS (P > 0.05). SBQ was superior to Berlin questionnaire and STOP questionnaire in screening OSAHS and detecting the severity of OSAHS patients. The sensitivities of SBQ score ≥3 with apnea hypopnea index (AHI) ≥5/h, AHI ≥15/h, and AHI ≥30/h as gold standards were 94.9%, 96.5%, and 97.7%, respectively. The specificities were 50.0%, 28.6%, and 17.9%, respectively. The area upper curves were 0.815 (0.706-0.925, P < 0.01), 0.746 (0.665-0.828, P < 0.01), and 0.751 (0.686-0.817, P < 0.01), respectively. According to SBQ, the population was classified into high-risk group and low-risk group. The gender, BMI, neck circumference, AHI, LSpO2, and number of subjects of AHI ≥5/h, AHI ≥15/h, and AHI ≥30/h of these two groups were significantly different.</p><p><b>CONCLUSIONS</b>The SBQ has superior predictive value compared with ESS, Berlin questionnaire, and STOP questionnaire. It should be used further in screening for OSAHS in the general population.</p>
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Estudos Prospectivos , Apneia Obstrutiva do Sono , Diagnóstico , Inquéritos e QuestionáriosRESUMO
<p><b>OBJECTIVE</b>To have a better understanding of genetic contributions to the development of obstructive sleep apnea hypopnea syndrome (OSAHS) by reviewing studies on its genetic basis.</p><p><b>DATA SOURCES</b>A comprehensive search of the PubMed literature without restriction on the publication date was carried out using terms "obstructive sleep apnea" and "candidate genes" or "genetics".</p><p><b>STUDY SELECTION</b>Articles were selected if they were an original research paper or meta analysis of the genetic factors of OSAHS.</p><p><b>RESULTS</b>Four intermediate phenotypes were described and several candidate genes that may determine the expression and severity of OSAHS were reviewed.</p><p><b>CONCLUSION</b>Multiple gene-gene interactions occurring in genes that affect obesity, craniofacial structure, ventilator control and asleep-awake pattern may influence the expression of OSAHS in a suitable environment.</p>
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Humanos , Obesidade , Genética , Apneia Obstrutiva do Sono , GenéticaRESUMO
<p><b>BACKGROUND</b>Obstructive sleep apnea hypopnea syndrome (OSAHS) is the most common sleep-disordered breathing and is still underdiagnosed. This study was designed to evaluate the value of the STOP-Bang questionnaire (SBQ) in screening OSAHS in sleep-disordered breathing clinics in order to extend it into the general Chinese population.</p><p><b>METHODS</b>Two hundred and twelve patients undergoing overnight polysomnography (PSG) in the sleep-disordered breathing clinic of Pecking Union Medical College Hospital between May 2011 and January 2012 were prospectively included and were asked to fill in the SBQ. A score of 3 or more of the SBQ indicated a high risk of OSAHS. We analyzed the sensitivities and specificities of SBQ in screening OSAHS. Logistic regression analysis was used to evaluate the probabilities of the severity of OSAHS based upon the apnea hypopnea index (AHI).</p><p><b>RESULTS</b>The patients at high risk of OSAHS had higher AHI, higher oxygen desaturation index (ODI), lower pulse oxygen saturation (LSpO2) during sleep time and less sleep time in stage N3. SBQ scores were positively correlated with AHI, ODI and the ratio of SpO2 lower than 90%, and negatively correlated with LSpO2 during sleep. The sensitivities of the SBQ with AHI ≥ 5/h, AHI ≥ 15/h, AHI ≥ 30/h as cut-offs were 94.9%, 96.5%, and 97.7%, respectively, and the specificities were 50.0%, 28.6%, and 17.9%, respectively. The Logistic regression analysis showed the probability of severe OSAHS increased and the probability of normal subjects decreased with increasing SBQ score.</p><p><b>CONCLUSIONS</b>The STOP-Bang questionnaire has excellent sensitivity in screening OSAHS patients and can predict the severity of OSAHS. More studies will be required to determine the value of SBQ in the general Chinese population.</p>
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Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Logísticos , Polissonografia , Apneia Obstrutiva do Sono , Inquéritos e QuestionáriosRESUMO
Objective To investigate the lipoteichoic acid(LTA) induced apoptosis and the expression of inflammatory cytokines in human alveolar macrophage (AM) and the anti-apoptotic and anti-inflamatory effect of moxifloxacin (MXF).Methods Obtained human AM from bronchoalveolar lavage and used MTT assay to observe the effects of LTA and MXF on cell activity,optical microscope to investigate the change of the cell morphology,flow cytometry to assess cell apoptosis,RT-PCR to detect the mRNA levels of TLR2,IL-1 β,IL-8 and TNF-α,ELISA for the production of IL-8 to exam RT-PCR.Results LTA showed cytotoxicity on AM in a dose-dependent manner ( P＜0.05 ) ; MXF inhibited the effect of LTA without cytotoxicicy ( P＜0.05 ).LTA promoted apoptosis ( P＜0.05 ) and the mRNA expressions of TRL2,IL-1 β,IL-8 and TNF-α significantly in AM (P＜0.05),the peaks and peak time ofthe above factors were (3.56±0.03) at 12 h,(46.63±7.06) at 6 h,(28.07±1.24) at 12 h and (2.34 ±0.50) at 3 h respectively and increased the release of IL-8 protein level at 24 h (P＜0.05).MXF inhibited the cell apoptosis and the above mRNA expression at 12h ( P＜0.05 ),and inhibited the IL-8 protein level at 24 h( P＜0.05 ).Conclusion LTA showed cytotoxicity on AM,induced AM apoptosis and increased the expression of TLR2,IL-I β,IL-8 and TNF-α of AM ; MXF could protect AM through inhibiting of the above effects and may play a key role beside bactericidal effect in gram-positive bacteria pneumonia.
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Objective To improve the recognition of intravaseular lymphoma.Methods One case of intravaseular T-cell lymphoma was reported and the related literatures were reviewed.Results Intravaseulal T-cell lymphoma presenting with fever,rash and haemophagocytie syndrome is rare.Although the patient was given chemical therapy,he was died of liver failure and gastrointestinal bleeding.Conclusion Intravascular T-cell lymphoma is rare,often diagnosed after autopsy and shows a rapidly aggressive course.