【据Journal of Hepatology 2020年8月报道】题:肝硬化患者急性肾脏疾病的自然病史(作者Tonon M等)2012年,KDIGO小组提出了急性肾损伤(AKI)、急性肾病(AKD)和慢性肾脏疾病(CKD)的新定义。根据国际腹水俱乐部(ICA)的定义,肝硬化患者中发...【据Journal of Hepatology 2020年8月报道】题:肝硬化患者急性肾脏疾病的自然病史(作者Tonon M等)2012年,KDIGO小组提出了急性肾损伤(AKI)、急性肾病(AKD)和慢性肾脏疾病(CKD)的新定义。根据国际腹水俱乐部(ICA)的定义,肝硬化患者中发生的AKI得到了广泛的研究。展开更多
OBJECTIVES: The aim of this study was to investigate the clinical expression of adenosine monophosphate-activated protein kinase(AMPK) gene mutations(PRKAG2) in adenosine monophosphate(AMP) kinase disease based on 12 ...OBJECTIVES: The aim of this study was to investigate the clinical expression of adenosine monophosphate-activated protein kinase(AMPK) gene mutations(PRKAG2) in adenosine monophosphate(AMP) kinase disease based on 12 years follow-up of known mutation carriers and to define the prevalence of PRKAG2 mutations in hypertrophic cardiomyopathy(HCM). BACKGROUND:Adenosine mono-phosphate-activated protein kinase genemutations cause HCM withWolff-Parkinson-White syndrome and conduction disease. METHODS: Clinical evaluation of 44 patients with known AMP kinase disease was analyzed. Mutation analysis of PRKAG2 was performed by fluorescent single-strand confirmation polymorphism analysis and direct sequencing of abnormal conformers in 200 patients with HCM. RESULTS: Only one additional mutation was identified. The mean age at clinical diagnosis in the 45 gene carriers was 24 years(median 20 years, range 9 to 55 years). Symptoms of palpitation, dypspnea, chest pain, or syncope were present in 31(69%) gene carriers; 7(15%) complained of myalgia and had clinical evidence of proximal myopathy. Skeletal muscle biopsy showed excess mitochondria and ragged red fibers with minimal glycogen accumulation. Disease penetrance defined by typical electrocardiogram abnormalities was 100%by age 18 years. Thirty-two of 41 adults(78%) had left ventricular hypertrophy(LVH) on echocardiography, and progressive LVH was documented during follow-up. Survival was 91%at a mean follow-up of 12.2 years. Progressive conduction disease required pacemaker implantation in 17 of 45(38%) at a mean age of 38 years. CONCLUSIONS: The AMP kinase disease is uncommon in HCM and is characterized by progressive conduction disease and cardiac hypertrophy and includes extracardiac manifestations such as a skeletal myopathy, consistent with a systemic metabolic storage disease. Defects in adenosine triphosphate utilization or in specific cellular substrates, rather than mere passive deposition of amylopectin, may account for these clinical features.展开更多
Objective: To determine the course of vascular changes in childhood post-vari cella arteriopathy (PVA) and its relationship to recurrent arterial ischemic str oke or TIA (AIS/TIA).Methods: Subjects were children with ...Objective: To determine the course of vascular changes in childhood post-vari cella arteriopathy (PVA) and its relationship to recurrent arterial ischemic str oke or TIA (AIS/TIA).Methods: Subjects were children with AIS/TIA occurring <1 y ear after varicella, ischemic localization consistent with unilateral disease af fecting the supraclinoid internal carotid arteryor proximal anterior or middle c erebral arteries, and no identified AIS/TIA etiology other than PVA. Charts, bra in MRI, and sequential cerebral vessel imaging (selective cerebral angiography o r MR angiography [SCA/MRA]) were retrospectively reviewed. Results: Twenty-thre e children had varicella at age 1.0 to 10.4 years and had single or multiple AIS /TIAs 4 to 47 weeks later. Initial SCA/MRA was performed within 1 month of prese ntation, and each child had one to five repeat SCA/MRAs during a 4-to 87-month period. There was vascular stenosis in 19 children, maximal on initial studies in 15 of these. Subsequent stenosis regression occurred in 17 children.In 11 of these, one or two additional SCA/MRAs showed further regression as long as 48 mo nths after presentation; there was no restenosis. Eight of 23 children had recur rent AIS/TIA with antithrombotic therapy within 33 weeks of presentation, includ ing 1 of 17 children with documented stenosis regression. Conclusion:Vascular st enosis of childhood post-varicella arteriopathy takes a monophasic course, gene rally with subsequent stenosis regression and only occasional stenosis progressi on after arterialischemic stroke/TIA. Arterial ischemic stroke/TIA rarely recurs with antithrombotic prophylaxis after stenosis regression occurs.展开更多
Objective: To describe the characteristics of spontaneous recovery of homonymous hemianopia (HH). Methods: The authors reviewed medical records of all patients with HH confirmed by formal visual field testing and seen...Objective: To describe the characteristics of spontaneous recovery of homonymous hemianopia (HH). Methods: The authors reviewed medical records of all patients with HH confirmed by formal visual field testing and seen in follow-up in their service between 1989 and 2004. Clinical characteristics, causes, neuroradiologic definition of lesion location, final outcome, and evolution of the visual field defects were recorded. The associations among final visual field defect outcome, time from injury, and clinical features were analyzed. Results: A total of 254 patients with 263 HH were included in this study. Spontaneous visual field defect recovery was observed in 101 HH (38.4%). The likelihood of spontaneous recovery decreased with increasing time from injury to initial visual field testing (p = 0.0003). The probability of improvement was related to the time since injury (p = 0.0003) with a 50 to 60%chance of improvement for cases tested within 1 month after injury that decreased to about 20%for cases tested at 6 months after surgery. No other factor was found to correlate with the final outcome of the visual field defects. Improvement after 6 months from injury was mild and usually related to improvement of the underlying disease. Conclusion: Spontaneous improvement of homonymous hemianopia is seen in at least 50%of patients first seen within 1 month of injury. In most cases, the improvement occurs within the first 3 months from injury. Spontaneous improvement after 6 months postinjury should be interpreted with caution as it is most likely related to improvement of the underlying disease or to improvement in the patient’s ability to perform visual field testing reliably.展开更多
文摘【据Journal of Hepatology 2020年8月报道】题:肝硬化患者急性肾脏疾病的自然病史(作者Tonon M等)2012年,KDIGO小组提出了急性肾损伤(AKI)、急性肾病(AKD)和慢性肾脏疾病(CKD)的新定义。根据国际腹水俱乐部(ICA)的定义,肝硬化患者中发生的AKI得到了广泛的研究。
文摘OBJECTIVES: The aim of this study was to investigate the clinical expression of adenosine monophosphate-activated protein kinase(AMPK) gene mutations(PRKAG2) in adenosine monophosphate(AMP) kinase disease based on 12 years follow-up of known mutation carriers and to define the prevalence of PRKAG2 mutations in hypertrophic cardiomyopathy(HCM). BACKGROUND:Adenosine mono-phosphate-activated protein kinase genemutations cause HCM withWolff-Parkinson-White syndrome and conduction disease. METHODS: Clinical evaluation of 44 patients with known AMP kinase disease was analyzed. Mutation analysis of PRKAG2 was performed by fluorescent single-strand confirmation polymorphism analysis and direct sequencing of abnormal conformers in 200 patients with HCM. RESULTS: Only one additional mutation was identified. The mean age at clinical diagnosis in the 45 gene carriers was 24 years(median 20 years, range 9 to 55 years). Symptoms of palpitation, dypspnea, chest pain, or syncope were present in 31(69%) gene carriers; 7(15%) complained of myalgia and had clinical evidence of proximal myopathy. Skeletal muscle biopsy showed excess mitochondria and ragged red fibers with minimal glycogen accumulation. Disease penetrance defined by typical electrocardiogram abnormalities was 100%by age 18 years. Thirty-two of 41 adults(78%) had left ventricular hypertrophy(LVH) on echocardiography, and progressive LVH was documented during follow-up. Survival was 91%at a mean follow-up of 12.2 years. Progressive conduction disease required pacemaker implantation in 17 of 45(38%) at a mean age of 38 years. CONCLUSIONS: The AMP kinase disease is uncommon in HCM and is characterized by progressive conduction disease and cardiac hypertrophy and includes extracardiac manifestations such as a skeletal myopathy, consistent with a systemic metabolic storage disease. Defects in adenosine triphosphate utilization or in specific cellular substrates, rather than mere passive deposition of amylopectin, may account for these clinical features.
文摘Objective: To determine the course of vascular changes in childhood post-vari cella arteriopathy (PVA) and its relationship to recurrent arterial ischemic str oke or TIA (AIS/TIA).Methods: Subjects were children with AIS/TIA occurring <1 y ear after varicella, ischemic localization consistent with unilateral disease af fecting the supraclinoid internal carotid arteryor proximal anterior or middle c erebral arteries, and no identified AIS/TIA etiology other than PVA. Charts, bra in MRI, and sequential cerebral vessel imaging (selective cerebral angiography o r MR angiography [SCA/MRA]) were retrospectively reviewed. Results: Twenty-thre e children had varicella at age 1.0 to 10.4 years and had single or multiple AIS /TIAs 4 to 47 weeks later. Initial SCA/MRA was performed within 1 month of prese ntation, and each child had one to five repeat SCA/MRAs during a 4-to 87-month period. There was vascular stenosis in 19 children, maximal on initial studies in 15 of these. Subsequent stenosis regression occurred in 17 children.In 11 of these, one or two additional SCA/MRAs showed further regression as long as 48 mo nths after presentation; there was no restenosis. Eight of 23 children had recur rent AIS/TIA with antithrombotic therapy within 33 weeks of presentation, includ ing 1 of 17 children with documented stenosis regression. Conclusion:Vascular st enosis of childhood post-varicella arteriopathy takes a monophasic course, gene rally with subsequent stenosis regression and only occasional stenosis progressi on after arterialischemic stroke/TIA. Arterial ischemic stroke/TIA rarely recurs with antithrombotic prophylaxis after stenosis regression occurs.
文摘Objective: To describe the characteristics of spontaneous recovery of homonymous hemianopia (HH). Methods: The authors reviewed medical records of all patients with HH confirmed by formal visual field testing and seen in follow-up in their service between 1989 and 2004. Clinical characteristics, causes, neuroradiologic definition of lesion location, final outcome, and evolution of the visual field defects were recorded. The associations among final visual field defect outcome, time from injury, and clinical features were analyzed. Results: A total of 254 patients with 263 HH were included in this study. Spontaneous visual field defect recovery was observed in 101 HH (38.4%). The likelihood of spontaneous recovery decreased with increasing time from injury to initial visual field testing (p = 0.0003). The probability of improvement was related to the time since injury (p = 0.0003) with a 50 to 60%chance of improvement for cases tested within 1 month after injury that decreased to about 20%for cases tested at 6 months after surgery. No other factor was found to correlate with the final outcome of the visual field defects. Improvement after 6 months from injury was mild and usually related to improvement of the underlying disease. Conclusion: Spontaneous improvement of homonymous hemianopia is seen in at least 50%of patients first seen within 1 month of injury. In most cases, the improvement occurs within the first 3 months from injury. Spontaneous improvement after 6 months postinjury should be interpreted with caution as it is most likely related to improvement of the underlying disease or to improvement in the patient’s ability to perform visual field testing reliably.
