Quarterly Journal of Medicine最新文献

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Analysis of RNA translation with a deep learning architecture provides new insight into translation control. 利用深度学习架构分析 RNA 翻译为翻译控制提供了新的视角。
Quarterly Journal of Medicine Pub Date : 2024-07-02 DOI: 10.1101/2023.07.08.548206
Xiaojuan Fan, Tiangen Chang, Chuyun Chen, Markus Hafner, Zefeng Wang
{"title":"Analysis of RNA translation with a deep learning architecture provides new insight into translation control.","authors":"Xiaojuan Fan, Tiangen Chang, Chuyun Chen, Markus Hafner, Zefeng Wang","doi":"10.1101/2023.07.08.548206","DOIUrl":"10.1101/2023.07.08.548206","url":null,"abstract":"<p><p>Accurate annotation of coding regions in RNAs is essential for understanding gene translation. We developed a deep neural network to directly predict and analyze translation initiation and termination sites from RNA sequences. Trained with human transcripts, our model learned hidden rules of translation control and achieved a near perfect prediction of canonical translation sites across entire human transcriptome. Surprisingly, this model revealed a new role of codon usage in regulating translation termination, which was experimentally validated. We also identified thousands of new open reading frames in mRNAs or lncRNAs, some of which were confirmed experimentally. The model trained with human mRNAs achieved high prediction accuracy of canonical translation sites in all eukaryotes and good prediction in polycistronic transcripts from prokaryotes or RNA viruses, suggesting a high degree of conservation in translation control. Collectively, we present a general and efficient deep learning model for RNA translation, generating new insights into the complexity of translation regulation.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"76 280 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11244891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83319389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aortic dissection. 主动脉夹层。
Quarterly Journal of Medicine Pub Date : 2022-01-30 DOI: 10.53347/rid-96921
C. Oakley
{"title":"Aortic dissection.","authors":"C. Oakley","doi":"10.53347/rid-96921","DOIUrl":"https://doi.org/10.53347/rid-96921","url":null,"abstract":"","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"79 289 1","pages":"379-80"},"PeriodicalIF":0.0,"publicationDate":"2022-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43167057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spontaneous periodic hypothermia 自发性周期性低温
Quarterly Journal of Medicine Pub Date : 2020-02-10 DOI: 10.32388/f9p164
{"title":"Spontaneous periodic hypothermia","authors":"","doi":"10.32388/f9p164","DOIUrl":"https://doi.org/10.32388/f9p164","url":null,"abstract":"","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69630556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome. 一名患有 APECED 综合征的女孩因肝肺综合征而出现原因不明的紫绀。
Quarterly Journal of Medicine Pub Date : 2017-03-01 DOI: 10.1515/jpem-2016-0276
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
{"title":"Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.","authors":"Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman","doi":"10.1515/jpem-2016-0276","DOIUrl":"10.1515/jpem-2016-0276","url":null,"abstract":"<p><p>Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p.R15H (c.44G>A) was found. In the clinical course of the patient, chronic liver disease due to autoimmune hepatitis has evolved resulting in hepatopulmonary syndrome (HPS) which has not been reported before in patients with APECED.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"72 269 1","pages":"365-369"},"PeriodicalIF":0.0,"publicationDate":"2017-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1515/jpem-2016-0276","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83314034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Predicting operative mortality after coronary artery bypass surgery in males. 预测男性冠状动脉搭桥术后的手术死亡率。
Quarterly Journal of Medicine Pub Date : 1994-10-01 DOI: 10.1097/00132586-199410000-00028
L. Daly, M. Lonergan, I. Graham
{"title":"Predicting operative mortality after coronary artery bypass surgery in males.","authors":"L. Daly, M. Lonergan, I. Graham","doi":"10.1097/00132586-199410000-00028","DOIUrl":"https://doi.org/10.1097/00132586-199410000-00028","url":null,"abstract":"The general practitioner often requires a simple and reliable method of determining the potential risks of surgical intervention. We derived and tested a simple clinical scoring system for the preoperative prediction of 30-day mortality after coronary artery bypass surgery. From a national register of all open heart operations in the Republic of Ireland 1984-1989, we identified 4276 male patients who had primary isolated non-emergency coronary artery bypass surgery. Using logistic regression, we derived a clinical scoring system to predict operative (30-day) mortality in patients operated on between 1984 and 1987. We then prospectively evaluated the score on patients seen over the next two years. Variables identified for our scoring system were age, recent myocardial infarction, left ventricular failure, extensive distal coronary artery disease and body surface area. Five risk categories were defined; mortality in the high-risk group was 9.7-fold (95% CI: 4.6-20.7) greater than in the low-risk group. When tested on new patients, the relative mortality between the two risk groups was 15.2 (4.6-50.5). The observed and predicted mortalities in each risk group showed close agreement. This clinical scoring system, easily used by a general practitioner, can predict operative mortality in males for whom primary isolated coronary artery bypass surgery is contemplated.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"86 12 1","pages":"771-8"},"PeriodicalIF":0.0,"publicationDate":"1994-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/00132586-199410000-00028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61643554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Modern chemotherapy in solid tumours. 实体肿瘤的现代化疗。
Quarterly Journal of Medicine Pub Date : 1994-06-01 DOI: 10.1093/OXFORDJOURNALS.QJMED.A068935
S. Kaye
{"title":"Modern chemotherapy in solid tumours.","authors":"S. Kaye","doi":"10.1093/OXFORDJOURNALS.QJMED.A068935","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068935","url":null,"abstract":"","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 6 1","pages":"319-22"},"PeriodicalIF":0.0,"publicationDate":"1994-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068935","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61293785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Humidity regulation in the management of asthma patients sensitized to house dust mites. 湿度调节在室内尘螨致敏哮喘患者管理中的应用。
Quarterly Journal of Medicine Pub Date : 1994-06-01 DOI: 10.1093/OXFORDJOURNALS.QJMED.A068942
S. Hyndman, D. Brown, P. Ewan, T. Higenbottam, J. Maunder, D. Williams
{"title":"Humidity regulation in the management of asthma patients sensitized to house dust mites.","authors":"S. Hyndman, D. Brown, P. Ewan, T. Higenbottam, J. Maunder, D. Williams","doi":"10.1093/OXFORDJOURNALS.QJMED.A068942","DOIUrl":"https://doi.org/10.1093/OXFORDJOURNALS.QJMED.A068942","url":null,"abstract":"Substances in the faeces of house dust mites are well-recognized as common allergens in the pathogenesis of asthma. There have been many trials of interventions aimed at reducing mite populations in the home, but most have been uncontrolled, too small, or too short to determine with confidence any beneficial effects. Of those which succeeded, very few used methods which reduced mite populations on a permanent basis. House dust mites are sensitive to humidity. Their geographical distribution is closely correlated to the availability of moisture. Very little work has been done on the effects of reducing humidity in the home environment in the long term, with a view to controlling dust mite populations. Two different methods which might reduce humidities to levels which could successfully reduce dust mite numbers are dehumidifiers, and mechanical ventilation with heat recovery (MVHR). To date there has been no work assessing the effectiveness of dehumidifiers and very little (although promising) work on MVHR. We discuss the potential of humidity control as an adjunct to the clinical treatment of asthma.","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 6 1","pages":"367-72"},"PeriodicalIF":0.0,"publicationDate":"1994-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1093/OXFORDJOURNALS.QJMED.A068942","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61293968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 14
Glomerular disease as a cause of isolated microscopic haematuria. 肾小球疾病是引起孤立的显微镜下血尿的原因。
Quarterly Journal of Medicine Pub Date : 1994-06-01
P S Topham, S J Harper, P N Furness, K P Harris, J Walls, J Feehally
{"title":"Glomerular disease as a cause of isolated microscopic haematuria.","authors":"P S Topham,&nbsp;S J Harper,&nbsp;P N Furness,&nbsp;K P Harris,&nbsp;J Walls,&nbsp;J Feehally","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Microscopic haematuria is a common clinical finding, with reported prevalences of up to 22%. The role of renal biopsy in the investigation of this condition is still debated. Currently urological investigation including cystourethroscopy is often regarded as adequate. We investigated 165 patients (94 male, 71 female; mean age 37.5 years, range 10-71) referred with isolated microscopic haematuria, using renal biopsy and cystourethroscopy. All patients were normotensive with normal serum creatinine, no proteinuria, sterile urine and a normal IVU. Renal biopsy abnormalities were found in 77/165 (46.6%): IgA nephropathy (49), global or segmental mesangial proliferative glomerulonephritis without IgA deposits (16), thin membrane nephropathy (7), vascular changes suggestive of hypertension (3), interstitial nephritis (1), and membranous nephropathy (1). Only five abnormalities were found on cystourethroscopy (cystitis 3, urethral stricture 1, bladder stone 1). Two patients with cystitis also had IgA nephropathy. Biopsy abnormalities were commonest under the age of 20 (69.2%), but 40% of biopsies were abnormal even in the seventh decade of life. Because renal biopsy abnormalities are very frequent in patients with isolated haematuria, renal biopsy is indicated in patients over 45 years of age if renal imaging and cystoscopy are normal. In those under 45 years, renal biopsy should replace cystoscopy as the investigation to follow normal renal imaging.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 6","pages":"329-35"},"PeriodicalIF":0.0,"publicationDate":"1994-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19037450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cryptococcal meningitis (C. neoformans var. gattii) leading to blindness in previously healthy Melanesian adults in Papua New Guinea. 在巴布亚新几内亚,隐球菌性脑膜炎(新生隐球菌变种加蒂)导致先前健康的美拉尼西亚成年人失明。
Quarterly Journal of Medicine Pub Date : 1994-06-01
D Lalloo, D Fisher, S Naraqi, I Laurenson, P Temu, A Sinha, A Saweri, B Mavo
{"title":"Cryptococcal meningitis (C. neoformans var. gattii) leading to blindness in previously healthy Melanesian adults in Papua New Guinea.","authors":"D Lalloo,&nbsp;D Fisher,&nbsp;S Naraqi,&nbsp;I Laurenson,&nbsp;P Temu,&nbsp;A Sinha,&nbsp;A Saweri,&nbsp;B Mavo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cryptococcal meningitis is a common cause of chronic meningitis in Papua New Guinea, affecting apparently immunocompetent people. The majority of infections are believed to be due to Cryptococcus neoformans var. gattii. We have reviewed the records of 49 Melanesian adults who presented with proven cryptococcal meningitis to the University teaching hospital in Port Moresby, and compare our findings with other published studies of cryptococcal meningitis in the tropics and sub-tropics. None of the patients had an obvious cause of immunosuppression. Visual disturbances and fundoscopic changes of papilloedema or papillitis were particularly common. The in-hospital case fatality rate for patients treated with amphotericin B and flucytosine was 22.4%. Of the fully treated patients, 31% became completely blind before being discharged from hospital. Therapy directly aimed at reducing intracranial pressure may improve outcome.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 6","pages":"343-9"},"PeriodicalIF":0.0,"publicationDate":"1994-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19037453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hyperparathyroidism, glucose tolerance and platelet intracellular free calcium in chronic renal failure. 慢性肾衰竭的甲状旁腺功能亢进、糖耐量和血小板胞内游离钙。
Quarterly Journal of Medicine Pub Date : 1994-06-01
K C Lu, S D Shieh, S H Lin, S H Chyr, Y F Lin, L K Diang, B L Li, W H Sheu, Y A Ding
{"title":"Hyperparathyroidism, glucose tolerance and platelet intracellular free calcium in chronic renal failure.","authors":"K C Lu,&nbsp;S D Shieh,&nbsp;S H Lin,&nbsp;S H Chyr,&nbsp;Y F Lin,&nbsp;L K Diang,&nbsp;B L Li,&nbsp;W H Sheu,&nbsp;Y A Ding","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Disturbance in the vitamin D/parathyroid hormone (PTH) axis may be important in the pathogenesis of glucose intolerance and insulin resistance in uraemia. To investigate possible relationships between hyperparathyroidism, intracellular free calcium ([Ca2+]i), and glucose tolerance in chronic renal failure, we measured serum intact PTH (I-PTH) by two-site immunometric assay, platelet [Ca2+]i using the fluorescent indicator fura-2, and plasma glucose and insulin after 14 h overnight fast and at 30, 60 and 120 min following a 75 g oral glucose load, in 18 chronic haemodialysis patients with elevated serum I-PTH. Calcitriol (1 microgram) was administered parenterally at the end of each dialysis session for four weeks. This significantly decreased serum I-PTH (p < 0.001) and platelet [Ca2+]i (p < 0.01). Uraemic patients initially showed marked glucose intolerance, with increased area below the glucose curve compared to healthy controls, but after 4 weeks of calcitriol treatment, this effect was significantly decreased, and there was a significant rise in the area under the insulin curve after glucose load. The insulinogenic index also increased significantly after calcitriol treatment. These data suggest that calcitriol treatment of haemodialysis patient with secondary hyperparathyroidism is associated with increased insulin secretion in response to glucose challenge, and that this change is linked to the decrease in intracellular free calcium.</p>","PeriodicalId":54520,"journal":{"name":"Quarterly Journal of Medicine","volume":"87 6","pages":"359-65"},"PeriodicalIF":0.0,"publicationDate":"1994-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19037455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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