{"title":"[Histidinemia].","authors":"O. B. Sviatkina, L. P. Chucherin","doi":"10.32388/br50ev","DOIUrl":"https://doi.org/10.32388/br50ev","url":null,"abstract":"","PeriodicalId":39657,"journal":{"name":"Pediatriya","volume":"8 1","pages":"87-91"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45698111","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}
Pub Date : 2020-01-01DOI: 10.1007/978-3-030-22176-8
Nikola Balvin, D. Christie
{"title":"Children and Peace : From Research to Action","authors":"Nikola Balvin, D. Christie","doi":"10.1007/978-3-030-22176-8","DOIUrl":"https://doi.org/10.1007/978-3-030-22176-8","url":null,"abstract":"","PeriodicalId":39657,"journal":{"name":"Pediatriya","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/978-3-030-22176-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51079226","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}
Pub Date : 2011-10-01DOI: 10.30156/CCMJ.201110.0006
M. F. Siahpirani, S. H. F. Langroudi
Sudden death of a family member is an emotionally devastating event and unfortunately an all-too-common presentation of genetic arrhythmia syndromes. The most common of these syndromes is the long-QT syndrome, which is characterized by an abnormal QT-interval prolongation on the surface ECG (＞440 msec in men, ＞460 msec in women) and an increased risk of sudden death, usually due to polymorphic ventricular arrythmia (Torsades de pointes) leading to ventricular fibrillation.A 44 year old man with hypertension, HCVD, Type 2 DM, legal blindness with ESRD on regular HD, and a recent history of syncope and VT during the previous week, presented to our Taichung Cheng Ching Hospital for persistent intermittent chest tightness and shortness of breath. He was found to have symptomatic bradycardia (HR 40-50), left lower lobe pneumonia, and right sided pleural effusion. He was admitted to MICU for close monitoring. Initially, a transvenous pacemaker was placed due to persistent bradycardia. Telemetric monitoring showed prolonged QT (QTc 536 msec), recurrent runs of Torsades and ventricular fibrillation in the absence of electrolyte imbalance. He was also treated with antiarrythmic agents intravenously, followed by mexiletine and Xanthium orally, and his symptoms were controlled. The hospital course was complicated by hospital-acquired pneumonia and ORSA bacteremia from catheter -related infections and he was treated with vancomycin and ceftazidime intravenously. He was discharged home after VVIR pacemaker placement on oral medications. On further testing, he was found to have late onset congenital LQTS type 2 proven by DNA sequence testing.
家庭成员的突然死亡是一种情感上的毁灭性事件，不幸的是，这是遗传性心律失常综合征的一种常见表现。这些综合征中最常见的是长qt间期综合征，其特征是体表心电图qt间期异常延长(男性为bbb4040msec，女性为>460 msec)，猝死风险增加，通常是由于多形性室性心律失常(Torsades de pointes)导致心室颤动。一名44岁男性，高血压，HCVD, 2型糖尿病，法定失明，伴有常规HD的ESRD，最近一周有晕厥和室速病史，因持续间歇性胸闷和呼吸短促而就诊于台中正清医院。他被发现有症状性心动过缓(HR 40-50)，左下叶肺炎和右侧胸腔积液。他被收住到MICU进行密切监测。最初，由于持续的心动过缓，放置了经静脉起搏器。遥测监测显示QT间期延长(QTc 536 msec)，在没有电解质失衡的情况下Torsades反复发作和心室颤动。同时静脉注射抗心律失常药物，随后口服美西汀和苍耳，症状得到控制。住院期间合并医院获得性肺炎和导管相关感染引起的ORSA菌血症，并静脉注射万古霉素和头孢他啶治疗。他在口服药物的VVIR起搏器放置后出院回家。经进一步检查，经DNA序列检测，发现他患有晚发性先天性LQTS 2型。
{"title":"A Case of Long QT Syndrome","authors":"M. F. Siahpirani, S. H. F. Langroudi","doi":"10.30156/CCMJ.201110.0006","DOIUrl":"https://doi.org/10.30156/CCMJ.201110.0006","url":null,"abstract":"Sudden death of a family member is an emotionally devastating event and unfortunately an all-too-common presentation of genetic arrhythmia syndromes. The most common of these syndromes is the long-QT syndrome, which is characterized by an abnormal QT-interval prolongation on the surface ECG (＞440 msec in men, ＞460 msec in women) and an increased risk of sudden death, usually due to polymorphic ventricular arrythmia (Torsades de pointes) leading to ventricular fibrillation.A 44 year old man with hypertension, HCVD, Type 2 DM, legal blindness with ESRD on regular HD, and a recent history of syncope and VT during the previous week, presented to our Taichung Cheng Ching Hospital for persistent intermittent chest tightness and shortness of breath. He was found to have symptomatic bradycardia (HR 40-50), left lower lobe pneumonia, and right sided pleural effusion. He was admitted to MICU for close monitoring. Initially, a transvenous pacemaker was placed due to persistent bradycardia. Telemetric monitoring showed prolonged QT (QTc 536 msec), recurrent runs of Torsades and ventricular fibrillation in the absence of electrolyte imbalance. He was also treated with antiarrythmic agents intravenously, followed by mexiletine and Xanthium orally, and his symptoms were controlled. The hospital course was complicated by hospital-acquired pneumonia and ORSA bacteremia from catheter -related infections and he was treated with vancomycin and ceftazidime intravenously. He was discharged home after VVIR pacemaker placement on oral medications. On further testing, he was found to have late onset congenital LQTS type 2 proven by DNA sequence testing.","PeriodicalId":39657,"journal":{"name":"Pediatriya","volume":"102 1","pages":"179-184"},"PeriodicalIF":0.0,"publicationDate":"2011-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70069361","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}
Pub Date : 1979-03-01DOI: 10.1007/springerreference_42900
I. Lelis, G. I. Iusaĭtene
{"title":"[Waardenburg's syndrome].","authors":"I. Lelis, G. I. Iusaĭtene","doi":"10.1007/springerreference_42900","DOIUrl":"https://doi.org/10.1007/springerreference_42900","url":null,"abstract":"","PeriodicalId":39657,"journal":{"name":"Pediatriya","volume":"3 1","pages":"61-2"},"PeriodicalIF":0.0,"publicationDate":"1979-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52977284","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}
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