623 SIBO is defined as an overgrowth of bacterial flora inhabiting the small intestine and is usually described in association with irritable bowel syn‐ drome.5 A number of studies reported the devel‐ opment of SIBO in patients who had undergone surgical treatment of gastrointestinal tumors[6] or other abnormalities in the gastrointestinal tract.7,8 In their paper, Adamska et al4 claimed that there had been no studies on the occurrence of SIBO in the course of diabetes, including type 1 diabetes. Indeed, there are few such studies, but isolated reports concerning type 1 and 2 di‐ abetes are available. For example, Rana et al9 ex‐ amined patients with type 2 diabetes and dem‐ onstrated a significant increase in the incidence of SIBO compared with the healthy population. Ojetti et al10 demonstrated that SIBO is present much more often in patients with type 1 diabe‐ tes who also have autonomic neuropathy, which is associated with a higher daily supply of insu‐ lin. Faria et al11 proved that intestinal transit can be inhibited in the course of type 1 diabetes, but the incidence of SIBO in this patient group is not significantly higher. This study was also cited by Adamska et al.4 It is therefore clear that the prob‐ lem is not completely new, but it has not been well documented. In their study, Adamska et al4 employed hydro‐ gen breath testing to diagnose SIBO. The authors were right to point out that the gold standard for the diagnosis of SIBO is microbiological testing of a duodenal or jejunal aspirate; however, it is an in‐ vasive method.4 Breath testing enables a quick and noninvasive diagnosis of SIBO, but false results are possible (sensitivity of the test when lactu‐ lose is applied is 52%, and specificity—86%).12 Increased intestinal transit can reduce the sen‐ sitivity of the breath test, which causes a rapid removal of lactulose from the proximal small in‐ testine. On the other hand, advanced lung dis‐ eases, such as tumors or inflammations, can re‐ sult in false positive results due to the presence of abundant bacterial flora in the lungs.12 It seems In recent years, our understanding of the func‐ tion of the human gastrointestinal tract has vast‐ ly improved, especially as regards the role of gas‐ trointestinal microbiota (commensal intestinal flora). There is growing evidence for the signifi‐ cant effect of these microbes on the function and health of the human body. Commensal flora of the gastrointestinal tract plays a vital role in di‐ gestion and absorption of nutrients and protects against the invasion of pathogenic microorgan‐ isms by creating resistance to colonization and af‐ fecting the immune system of the host organism. The gastrointestinal tract, especially in its final section, contains an enormous number of bacte‐ ria, which form a peculiar ecosystem. Gastroin‐ testinal flora is an important part of the body. Its role and significance are increasingly recognized, which helps explain the course and causes of nu‐ merous diseas
SIBO被定义为居住在小肠内的细菌菌群过度生长,通常与肠易激综合征有关许多研究报道了因胃肠道肿瘤[6]或其他胃肠道异常而接受手术治疗的患者发生SIBO。7,8 Adamska等人在他们的论文中声称,目前还没有关于SIBO在包括1型糖尿病在内的糖尿病过程中发生的研究。事实上,这类研究很少,但有关于1型和2型糖尿病的孤立报道。例如,Rana等人对2型糖尿病和dem患者进行了分析,发现与健康人群相比,SIBO的发病率显著增加。Ojetti等人10证明,SIBO在伴有自主神经病变的1型糖尿病患者中更为常见,这与每日胰岛素供应较高有关。Faria等11证实1型糖尿病病程中肠道转运可以被抑制,但该患者组SIBO的发生率并没有明显增高。这项研究也被Adamska等人引用。因此,很明显,这个问题并不是全新的,但它并没有得到很好的记录。在他们的研究中,Adamska等人4采用氢呼气试验诊断SIBO。作者正确地指出,诊断SIBO的金标准是对十二指肠或空肠抽吸物进行微生物学检测;然而,这是一种普遍的方法呼气测试能够快速、无创地诊断SIBO,但也有可能出现错误结果(当应用乳酸流失时,该测试的灵敏度为52%,特异性为86%)肠道运输的增加会降低呼吸试验的敏感性,从而导致乳果糖从近端小睾丸中快速移除。另一方面,晚期肺部疾病,如肿瘤或炎症,由于肺部存在大量细菌菌群,可导致假阳性结果近年来,我们对人类胃肠道功能的认识有了很大的提高,特别是对肠道菌群(共生肠道菌群)的作用的认识。越来越多的证据表明,这些微生物对人体的功能和健康有重要影响。胃肠道的共生菌群在营养物质的消化和吸收中起着至关重要的作用,并通过产生对定植的抵抗力和影响宿主生物的免疫系统来防止病原微生物的入侵。胃肠道,特别是在它的最后部分,包含了大量的细菌,它们形成了一个特殊的生态系统。胃肠道菌群是人体的重要组成部分。它的作用和意义越来越被认识到,这有助于解释许多疾病的过程和原因。越来越多的研究报道了各种疾病过程中微生物群组成的变化,如炎症性肠病、乳糜泻、糖尿病、肥胖症和许多其他疾病。顺应这一趋势,Adamska等人在最新一期的《波兰内科学档案》(Pol Arch Med Wewn)上发表了他们对1型糖尿病患者小肠细菌过度生长(SIBO)的研究结果。该研究包括148名患有1型糖尿病的成年人和41名对照组。SIBO是通过Gastro+Gastrolyzer (Bedfont Scientific Ltd.,英国梅德斯通)进行的无创氢呼吸试验证实的。该试验包括评估从口服的20克乳果糖中提取的呼出氢的浓度,然后由细菌分解。与研究组相比,对照组SIBO的发病率显著高于研究组(分别为73%和37.8%,P = 0.006),这可能令研究人员感到惊讶同样,SIBO症状与氢呼气试验阳性结果之间也没有显著相关性。编辑
{"title":"Small intestinal bacterial overgrowth in adult patients with type 1 diabetes.","authors":"M. Bulanda, T. Gosiewski, M. Brzychczy-Wloch","doi":"10.20452/pamw.3574","DOIUrl":"https://doi.org/10.20452/pamw.3574","url":null,"abstract":"623 SIBO is defined as an overgrowth of bacterial flora inhabiting the small intestine and is usually described in association with irritable bowel syn‐ drome.5 A number of studies reported the devel‐ opment of SIBO in patients who had undergone surgical treatment of gastrointestinal tumors[6] or other abnormalities in the gastrointestinal tract.7,8 In their paper, Adamska et al4 claimed that there had been no studies on the occurrence of SIBO in the course of diabetes, including type 1 diabetes. Indeed, there are few such studies, but isolated reports concerning type 1 and 2 di‐ abetes are available. For example, Rana et al9 ex‐ amined patients with type 2 diabetes and dem‐ onstrated a significant increase in the incidence of SIBO compared with the healthy population. Ojetti et al10 demonstrated that SIBO is present much more often in patients with type 1 diabe‐ tes who also have autonomic neuropathy, which is associated with a higher daily supply of insu‐ lin. Faria et al11 proved that intestinal transit can be inhibited in the course of type 1 diabetes, but the incidence of SIBO in this patient group is not significantly higher. This study was also cited by Adamska et al.4 It is therefore clear that the prob‐ lem is not completely new, but it has not been well documented. In their study, Adamska et al4 employed hydro‐ gen breath testing to diagnose SIBO. The authors were right to point out that the gold standard for the diagnosis of SIBO is microbiological testing of a duodenal or jejunal aspirate; however, it is an in‐ vasive method.4 Breath testing enables a quick and noninvasive diagnosis of SIBO, but false results are possible (sensitivity of the test when lactu‐ lose is applied is 52%, and specificity—86%).12 Increased intestinal transit can reduce the sen‐ sitivity of the breath test, which causes a rapid removal of lactulose from the proximal small in‐ testine. On the other hand, advanced lung dis‐ eases, such as tumors or inflammations, can re‐ sult in false positive results due to the presence of abundant bacterial flora in the lungs.12 It seems In recent years, our understanding of the func‐ tion of the human gastrointestinal tract has vast‐ ly improved, especially as regards the role of gas‐ trointestinal microbiota (commensal intestinal flora). There is growing evidence for the signifi‐ cant effect of these microbes on the function and health of the human body. Commensal flora of the gastrointestinal tract plays a vital role in di‐ gestion and absorption of nutrients and protects against the invasion of pathogenic microorgan‐ isms by creating resistance to colonization and af‐ fecting the immune system of the host organism. The gastrointestinal tract, especially in its final section, contains an enormous number of bacte‐ ria, which form a peculiar ecosystem. Gastroin‐ testinal flora is an important part of the body. Its role and significance are increasingly recognized, which helps explain the course and causes of nu‐ merous diseas","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"19 1","pages":"623-624"},"PeriodicalIF":0.0,"publicationDate":"2016-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77926584","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}
{"title":"The moving target of clopidogrel response variability: new tricks of the old dog?","authors":"V. Serebruany","doi":"10.20452/pamw.3576","DOIUrl":"https://doi.org/10.20452/pamw.3576","url":null,"abstract":"","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"70 1","pages":"625-627"},"PeriodicalIF":0.0,"publicationDate":"2016-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85069419","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}
M. Sławińska, W. Barańska-Rybak, M. Sobjanek, A. Wilkowska, A. Mital, R. Nowicki
{"title":"Ibrutinib-induced pyoderma gangrenosum.","authors":"M. Sławińska, W. Barańska-Rybak, M. Sobjanek, A. Wilkowska, A. Mital, R. Nowicki","doi":"10.20452/pamw.3578","DOIUrl":"https://doi.org/10.20452/pamw.3578","url":null,"abstract":"","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"15 1","pages":"710-711"},"PeriodicalIF":0.0,"publicationDate":"2016-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84700111","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}
{"title":"Whether and how can the doctor help the patient who asks for death?","authors":"R. Voltz","doi":"10.20452/pamw.3580","DOIUrl":"https://doi.org/10.20452/pamw.3580","url":null,"abstract":"","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"8 1","pages":"712-714"},"PeriodicalIF":0.0,"publicationDate":"2016-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79636824","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}
{"title":"Asymmetric dimethylarginine: a risk indicator or pathogenic factor?","authors":"D. Fuchs, K. Kurz, J. Gostner","doi":"10.20452/pamw.3572","DOIUrl":"https://doi.org/10.20452/pamw.3572","url":null,"abstract":"","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"68 1","pages":"621-622"},"PeriodicalIF":0.0,"publicationDate":"2016-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80800425","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}
{"title":"The conundrum of watchful waiting versus pre-emptive surgery in asymptomatic aortic stenosis: are we any closer to an answer?","authors":"M. Desai, A. Mentias","doi":"10.20452/pamw.3570","DOIUrl":"https://doi.org/10.20452/pamw.3570","url":null,"abstract":"","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"57 1","pages":"619-620"},"PeriodicalIF":0.0,"publicationDate":"2016-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89672627","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}
617 a DSc degree. He was twice a visiting scientist at the Clinical Research Institute in Montreal, Canada (1969–1970, 1984), where he was work‐ ing on endocrine and metabolic aspects of hy‐ pertension. Upon return to Prague, he founded the Laboratory for Endocrine and Metabolic Re‐ search at the Third Department of Internal Med‐ icine, and became head of this unit. He went on to become the head of the Second Department of Internal Medicine in 1990, and contributed to the development of the department until re‐ tirement in 1998. Following his retirement, Pro‐ fessor Horký served as professor emeritus and was an active personality in scientific societies. He was a president of the Czech Society of Inter‐ nal Medicine (1991–2005), and earlier, he was a president of the Czech Society of Hyperten‐ sion (1994–1998). He passed away on August 11, 2016, in Prague. Professor Karel Horký authored more than 450 original papers and about 15 handbooks and monographs. Still a student, he was attracted to clinical pharmacology by Professor Jiří Štefl (1904–1961). Professor Štefl was famous for se‐ ceding from the Communist Party to protest against political show trials. He was prosecuted and finally he lost the university position dur‐ ing incompetent Masaryk University manage‐ ment purges during these times. Interestingly, he was also an author of a few novels. In Prague, Professor Horký worked under the auspices of the famous Professor Josef Charvát (1897–1984), founder of the Third Department of Internal Med‐ icine in Prague and a great endocrinologist as well as author of several philosophical works. Profes‐ sor Josef Charvát was an honorary member of the Polish Society of Internal Medicine. Endo‐ crinological and metabolic research of Professor Horký was fruitfully carried out under the super‐ vision of Professor Jacques Genest (born 1919) in Montreal. They were working on the role of so‐ dium, aldosterone, and angiotensin II in the re‐ nin–angiotensin system in arterial hyperten‐ sion as well as on the natriuretic factor present in the heart atria. Professor Horký conducted research until the last years of his life, focusing Great sadness and deep affection marked the re‐ cent passing of Professor Karel Horký, a great Czech internist, great mind, an honorary mem‐ ber of the Polish Society of Internal Medicine, and a long ‐time friend of mine. Professor Karel Horký was born in Brno (Czechoslovakia, now Czech Republic) on May 9, 1933. He completed a high school in Třebíči. In 1951, he entered the Medical Faculty of the Ma‐ saryk University in Brno, and he graduated from the university in 1957. For 3 years, he worked at the Regional Hospital in Děčín. There he re‐ ceived the first degree of board certification in internal medicine. In 1960, he moved to Prague and started his professional career as an assis‐ tant at the Third Department of Internal Medi‐ cine of the Charles University. There be obtained the second degree of board certification in in‐ ternal m
{"title":"In memoriam: Professor Karel Horký.","authors":"E. Kucharz","doi":"10.20452/pamw.3565","DOIUrl":"https://doi.org/10.20452/pamw.3565","url":null,"abstract":"617 a DSc degree. He was twice a visiting scientist at the Clinical Research Institute in Montreal, Canada (1969–1970, 1984), where he was work‐ ing on endocrine and metabolic aspects of hy‐ pertension. Upon return to Prague, he founded the Laboratory for Endocrine and Metabolic Re‐ search at the Third Department of Internal Med‐ icine, and became head of this unit. He went on to become the head of the Second Department of Internal Medicine in 1990, and contributed to the development of the department until re‐ tirement in 1998. Following his retirement, Pro‐ fessor Horký served as professor emeritus and was an active personality in scientific societies. He was a president of the Czech Society of Inter‐ nal Medicine (1991–2005), and earlier, he was a president of the Czech Society of Hyperten‐ sion (1994–1998). He passed away on August 11, 2016, in Prague. Professor Karel Horký authored more than 450 original papers and about 15 handbooks and monographs. Still a student, he was attracted to clinical pharmacology by Professor Jiří Štefl (1904–1961). Professor Štefl was famous for se‐ ceding from the Communist Party to protest against political show trials. He was prosecuted and finally he lost the university position dur‐ ing incompetent Masaryk University manage‐ ment purges during these times. Interestingly, he was also an author of a few novels. In Prague, Professor Horký worked under the auspices of the famous Professor Josef Charvát (1897–1984), founder of the Third Department of Internal Med‐ icine in Prague and a great endocrinologist as well as author of several philosophical works. Profes‐ sor Josef Charvát was an honorary member of the Polish Society of Internal Medicine. Endo‐ crinological and metabolic research of Professor Horký was fruitfully carried out under the super‐ vision of Professor Jacques Genest (born 1919) in Montreal. They were working on the role of so‐ dium, aldosterone, and angiotensin II in the re‐ nin–angiotensin system in arterial hyperten‐ sion as well as on the natriuretic factor present in the heart atria. Professor Horký conducted research until the last years of his life, focusing Great sadness and deep affection marked the re‐ cent passing of Professor Karel Horký, a great Czech internist, great mind, an honorary mem‐ ber of the Polish Society of Internal Medicine, and a long ‐time friend of mine. Professor Karel Horký was born in Brno (Czechoslovakia, now Czech Republic) on May 9, 1933. He completed a high school in Třebíči. In 1951, he entered the Medical Faculty of the Ma‐ saryk University in Brno, and he graduated from the university in 1957. For 3 years, he worked at the Regional Hospital in Děčín. There he re‐ ceived the first degree of board certification in internal medicine. In 1960, he moved to Prague and started his professional career as an assis‐ tant at the Third Department of Internal Medi‐ cine of the Charles University. There be obtained the second degree of board certification in in‐ ternal m","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"14 1","pages":"617-618"},"PeriodicalIF":0.0,"publicationDate":"2016-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84868953","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}
K. Antończyk, M. Szulik, M. Zakliczyński, M. Zembala, M. Zembala, T. Kukulski
{"title":"Recurrent asymptomatic acute cellular rejection after heart transplantation: monitoring with speckle-tracking echocardiography.","authors":"K. Antończyk, M. Szulik, M. Zakliczyński, M. Zembala, M. Zembala, T. Kukulski","doi":"10.20452/pamw.3563","DOIUrl":"https://doi.org/10.20452/pamw.3563","url":null,"abstract":"","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"16 1","pages":"700-703"},"PeriodicalIF":0.0,"publicationDate":"2016-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90225568","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}
B. Foss-Nieradko, M. Franaszczyk, M. Śpiewak, A. Oreziak, R. Płoski, Z. Bilińska
704 available family members (mother and sister) and revealed no abnormalities. A genetic study was performed to gain insight into SCD in the family and identify family members at potential risk. DNA was extracted from peripheral blood by phenol extraction. Next-generation sequencing (NGS) in the proband was performed using the TruSight One (TSO, Illumina, San Diego, California, United States) sequencing panel. Selected genetic variants identified by NGS were followed up in the proband and relatives, using Sanger sequencing. We identified the frameshift deletion p.Thr2625fs (c.7871_7872delAC), annotated to transcript NM_004415.2 of the desmoplakin (DSP) gene, in the proband, but not in his healthy mother or sister (FIGURE 1F and 1G). Desmoplakin is a critical component of desmosome structures in the cardiac muscle, and the role of DSP mutations, including protein-truncating mutations, in the pathogenesis of cardiomyopathies is well established.1,2 The identified variant has not been described in the literature before or found in genomic databases (Phase 3 of 1000 Genomes, NHLBI GO Exome Sequencing Project [ESP] 6500 and Version 0.3 of ExAC). Although the recommendation of an implantable cardioverter defibrillator (ICD) as primary prevention remains controversial,3 it was necessary in this case. ICD was implemented owing to signs of biventricular involvement on CMR, the family history of SCD, and the result of genetic study in the patient with complex ventricular arrhythmia. A 2-year follow-up revealed that the patient remained asymptomatic, and cardiac function was stable with readings from the ICD memory Sudden cardiac death (SCD) of young, apparently healthy individuals raises questions about whether other family members are also at risk of SCD. A 30-year-old patient treated with bisoprolol (5 mg once daily) for ventricular arrhythmia for 6 months was admitted to our hospital for evaluation. A family history of SCD was identified: the patient’s brother died suddenly at the age of 39 years while working at the computer. A physical examination of our patient was unremarkable. A standard 12-lead electrocardiogram showed sinus bradycardia (47 bpm) and low voltage, fragmented QRS in limb leads (FIGURE 1A). A transthoracic 2-dimensional echocardiogram revealed a nondilated left ventricle with borderline ejection fraction; however, the right ventricle was dilated with mild global contractile dysfunction. Subsequent cardiac magnetic resonance (CMR) revealed a significantly enlarged right ventricle and a slightly enlarged left ventricle (right ventricular [RV] end-diastolic volume, 151 ml/m2, n <111, and left ventricular [LV] end-diastolic volume, 111 ml/m2, n <101) with slightly reduced LV and RV ejection fractions (49% and 46%, respectively) and global hypokinesis. Additionally, diffuse changes on late gadolinium enhancement (LGE) were found (FIGURE 1B–D). On 24-hour Holter monitoring, sinus bradycardia (without pauses), single premature ventricular c
704名可用家庭成员(母亲和妹妹),未发现异常。进行了一项基因研究,以深入了解SCD家族,并确定有潜在风险的家族成员。采用苯酚萃取法提取外周血DNA。先证者的下一代测序(NGS)使用TruSight One (TSO, Illumina, San Diego, California, United States)测序板进行。采用Sanger测序对先证者和亲属中经NGS鉴定的遗传变异进行随访。我们在先证者中发现移码缺失p.s thr2625fs (c.7871_7872delAC),注释到desmoplakin (DSP)基因的转录NM_004415.2,但在其健康的母亲或姐妹中没有发现(图1F和1G)。Desmoplakin是心肌桥粒结构的关键组成部分,DSP突变(包括蛋白截断突变)在心肌病发病机制中的作用已经得到了很好的证实。1,2所鉴定的变异在之前的文献中未被描述,也未在基因组数据库中发现(1000 Genomes的第3阶段,NHLBI GO Exome Sequencing Project [ESP] 6500和ExAC的0.3版本)。尽管植入式心律转复除颤器(ICD)作为一级预防的建议仍然存在争议,但在本病例中,这是必要的。考虑到CMR双心室受累的迹象、SCD的家族史以及复杂室性心律失常患者的遗传研究结果,我们实施了ICD。2年随访显示患者无症状,ICD记忆读数显示心功能稳定,年轻健康个体的心源性猝死(SCD)引发了其他家庭成员是否也有SCD风险的问题。一例30岁的室性心律失常患者接受比索洛尔(5 mg,每日1次)治疗6个月。确定了SCD的家族史:患者的兄弟在39岁时在电脑前工作时突然死亡。我们病人的体格检查没有什么特别之处。标准12导联心电图显示窦性心动过缓(47bpm)和肢体导联低电压、碎片化QRS(图1A)。经胸二维超声心动图显示左心室未扩张,射血分数边缘性;然而,右心室扩张伴轻度整体收缩功能障碍。随后的心脏磁共振(CMR)显示右心室明显增大,左心室略有增大(右心室[RV]舒张末期容积,151 ml/m2, n <111,左心室[LV]舒张末期容积,111 ml/m2, n <101),左室和右室射血分数略有降低(分别为49%和46%),全身运动不足。此外,晚期钆增强(LGE)可见弥漫性改变(图1B-D)。在24小时动态心电图监测中,观察到窦性心动过缓(无停顿)、单次室性早搏、室性联和非持续性室性心动过速发作(2例多态三胞胎)。家族史显示,先证者的父亲在75岁时死于心力衰竭,一位表兄突然死亡(图1E)。无创临床心脏筛查由Zofia T.教授Bilińska, MD, PhD, Ośrodek badawa Przesiewowych Dziedzicznych Chorób Układu sercoco - naczyniowego, institut cardiologii, ul进行。Alpejska 42, 04-628华沙,波兰,电话:+48 22 343 47 11,电子邮件:zbilinska@ikard.pl(用于临床问题);rafazov教授Płoski, MD, PhD, Zakład Genetyki Medycznej, Warszawski大学系统医学,ul。Pawińskiego 3c, 02-106华沙,波兰,电话:+48 22 572 06 06,电子邮件:rploski@wp.pl(遗传问题)收稿日期:2016年8月29日。发布日期:2016年9月27日。利益冲突:没有声明。Pol Arch Med Wewn. 2016;126 (9): 704-707 doi:10.20452/pam .3567Medycyna Praktyczna版权所有Kraków 2016 CLINICAL IMAGE
{"title":"Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.","authors":"B. Foss-Nieradko, M. Franaszczyk, M. Śpiewak, A. Oreziak, R. Płoski, Z. Bilińska","doi":"10.20452/pamw.3567","DOIUrl":"https://doi.org/10.20452/pamw.3567","url":null,"abstract":"704 available family members (mother and sister) and revealed no abnormalities. A genetic study was performed to gain insight into SCD in the family and identify family members at potential risk. DNA was extracted from peripheral blood by phenol extraction. Next-generation sequencing (NGS) in the proband was performed using the TruSight One (TSO, Illumina, San Diego, California, United States) sequencing panel. Selected genetic variants identified by NGS were followed up in the proband and relatives, using Sanger sequencing. We identified the frameshift deletion p.Thr2625fs (c.7871_7872delAC), annotated to transcript NM_004415.2 of the desmoplakin (DSP) gene, in the proband, but not in his healthy mother or sister (FIGURE 1F and 1G). Desmoplakin is a critical component of desmosome structures in the cardiac muscle, and the role of DSP mutations, including protein-truncating mutations, in the pathogenesis of cardiomyopathies is well established.1,2 The identified variant has not been described in the literature before or found in genomic databases (Phase 3 of 1000 Genomes, NHLBI GO Exome Sequencing Project [ESP] 6500 and Version 0.3 of ExAC). Although the recommendation of an implantable cardioverter defibrillator (ICD) as primary prevention remains controversial,3 it was necessary in this case. ICD was implemented owing to signs of biventricular involvement on CMR, the family history of SCD, and the result of genetic study in the patient with complex ventricular arrhythmia. A 2-year follow-up revealed that the patient remained asymptomatic, and cardiac function was stable with readings from the ICD memory Sudden cardiac death (SCD) of young, apparently healthy individuals raises questions about whether other family members are also at risk of SCD. A 30-year-old patient treated with bisoprolol (5 mg once daily) for ventricular arrhythmia for 6 months was admitted to our hospital for evaluation. A family history of SCD was identified: the patient’s brother died suddenly at the age of 39 years while working at the computer. A physical examination of our patient was unremarkable. A standard 12-lead electrocardiogram showed sinus bradycardia (47 bpm) and low voltage, fragmented QRS in limb leads (FIGURE 1A). A transthoracic 2-dimensional echocardiogram revealed a nondilated left ventricle with borderline ejection fraction; however, the right ventricle was dilated with mild global contractile dysfunction. Subsequent cardiac magnetic resonance (CMR) revealed a significantly enlarged right ventricle and a slightly enlarged left ventricle (right ventricular [RV] end-diastolic volume, 151 ml/m2, n <111, and left ventricular [LV] end-diastolic volume, 111 ml/m2, n <101) with slightly reduced LV and RV ejection fractions (49% and 46%, respectively) and global hypokinesis. Additionally, diffuse changes on late gadolinium enhancement (LGE) were found (FIGURE 1B–D). On 24-hour Holter monitoring, sinus bradycardia (without pauses), single premature ventricular c","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"126 9 1","pages":"704-707"},"PeriodicalIF":0.0,"publicationDate":"2016-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87163193","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}
M. Gąsior, D. Pres, W. Wojakowski, P. Buszman, Z. Kalarus, M. Hawranek, M. Gierlotka, A. Lekston, K. Mizia-Stec, M. Zembala, L. Polonski, M. Tendera
INTRODUCTION Despite the progress in cardiology in recent years, cardiovascular (CV) diseases remain the main cause of death in European countries. The knowledge concerning the structure of hospital admissions for CV diseases and clinical outcomes is fragmentary. OBJECTIVES The aim of the study was to analyze the characteristics and outcome of patients with CV disease, hospitalized between 2006 and 2014 and included in the Silesian Cardiovascular Database (SILCARD) covering a population of 4.6 million patients. PATIENTS AND METHODS SILCARD is based on the data from the Regional Department of the National Health Fund in Poland. The enrollment criteria were any hospitalization at a department of cardiology, cardiac surgery, diabetology or vascular surgery and hospitalization with a cardiovascular diagnosis at a department of internal medicine or intensive care. The data come from 310 hospital departments and 1863 outpatient clinics, and contain information on 487 518 patients and 956 634 hospitalizations. RESULTS Heart failure (20%) and stable coronary artery disease (18.5%) were the most frequent primary causes of hospitalization. The number of hospitalizations due to heart failure, aortic stenosis, and pulmonary embolism significantly increased. The highest 12‑month mortality was reported in patients with heart failure and pulmonary embolism (>30%). A decrease in 12‑month mortality in patients with heart failure, stable coronary artery disease, myocardial infarction, and atrial fibrillation was noted, although for some disease entities, it remained relatively high. CONCLUSIONS Between the years 2006 and 2014, in‑hospital and 12‑month mortality showed a trend for decline in many disease entities, with considerable space for prognostic improvement.
{"title":"Causes of hospitalization and prognosis in patients with cardiovascular diseases. Secular trends in the years 2006-2014 according to the SILesian CARDiovascular (SILCARD) database.","authors":"M. Gąsior, D. Pres, W. Wojakowski, P. Buszman, Z. Kalarus, M. Hawranek, M. Gierlotka, A. Lekston, K. Mizia-Stec, M. Zembala, L. Polonski, M. Tendera","doi":"10.20452/pamw.3557","DOIUrl":"https://doi.org/10.20452/pamw.3557","url":null,"abstract":"INTRODUCTION Despite the progress in cardiology in recent years, cardiovascular (CV) diseases remain the main cause of death in European countries. The knowledge concerning the structure of hospital admissions for CV diseases and clinical outcomes is fragmentary. OBJECTIVES The aim of the study was to analyze the characteristics and outcome of patients with CV disease, hospitalized between 2006 and 2014 and included in the Silesian Cardiovascular Database (SILCARD) covering a population of 4.6 million patients. PATIENTS AND METHODS SILCARD is based on the data from the Regional Department of the National Health Fund in Poland. The enrollment criteria were any hospitalization at a department of cardiology, cardiac surgery, diabetology or vascular surgery and hospitalization with a cardiovascular diagnosis at a department of internal medicine or intensive care. The data come from 310 hospital departments and 1863 outpatient clinics, and contain information on 487 518 patients and 956 634 hospitalizations. RESULTS Heart failure (20%) and stable coronary artery disease (18.5%) were the most frequent primary causes of hospitalization. The number of hospitalizations due to heart failure, aortic stenosis, and pulmonary embolism significantly increased. The highest 12‑month mortality was reported in patients with heart failure and pulmonary embolism (>30%). A decrease in 12‑month mortality in patients with heart failure, stable coronary artery disease, myocardial infarction, and atrial fibrillation was noted, although for some disease entities, it remained relatively high. CONCLUSIONS Between the years 2006 and 2014, in‑hospital and 12‑month mortality showed a trend for decline in many disease entities, with considerable space for prognostic improvement.","PeriodicalId":20343,"journal":{"name":"Polskie Archiwum Medycyny Wewnetrznej","volume":"56 1","pages":"754-762"},"PeriodicalIF":0.0,"publicationDate":"2016-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90980485","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}