scholarly journals Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Shan He ◽  
Zhuang Tian ◽  
Hongzhi Guan ◽  
Jian Li ◽  
Quan Fang ◽  
...  

Abstract Background Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. This study was performed to describe the clinical characteristics and natural history of Chinese patients to improve clinical awareness of this condition. Methods In this study, we retrospectively investigated 23 patients with a confirmed diagnosis of hereditary ATTR-CM in Peking Union Medical College hospital from From January 1, 2000 to December 31, 2018. Results In all, 16 patients (69.6%) were males, the median age at disease onset was 45 (33,55) years old. The median duration from symptom onset to diagnosis was 30 (18,46) months. Phenotypes were classified as exclusively cardiac (n = 1, 4.3%) and mixed type (n = 22, 95.6%). The common mutations were Gly47Arg (7 patients [30.4%]) and Val30Ala (3 patients [13%]). Ventricular hypertrophy was observed in 23 (100%) patients, the mean thickness of the ventricular septum was 16.1 ± 3.9 mm, the mean thickness of the left ventricular posterior wall was 15.1 ± 2.8 mm. The mean left ventricle ejection fraction (LVEF) was 57.3 ± 11.9% and only 5 patients (21.7%) had LVEF < 50%. 18 (78.3%) patients had abnormal electrocardiography and the most common feature was pseudoinfarct pattern (56.5%). Overall survival at 12, 24, 36, 48, and 60 months after diagnosis was 77.8, 55.6, 38.9, 27.8, and 11.1%, respectively. Survival was better in patients with EF ≥50% than in those with EF < 50% [log Rank (Mantel-Cox), χ2 = 4.03, P = 0.045]. Conclusions The clinical characteristics of ATTR are heterogeneous: men are more likely to be affected and onset symptoms are not obvious in the heart and mainly include peripheral neuropathy and autonomic neuropathy; however, LV hypertrophy, especially a thick ventricular septum and posterior wall with preserved LVEF, are often detected on echocardiography. Abnormal ECG manifestations are common. The prognosis is poor, and patients with EF > 50% have better survival. Clinicians should be more aware of the complex clinical profile of ATTR amyloidosis to avoid misdiagnosis in practice.

2021 ◽  
Vol 2 (1) ◽  
pp. 43-47
Author(s):  
Mengtao Li ◽  
Yanhong Wang ◽  
Jiuliang Zhao ◽  
Qian Wang ◽  
Ziqian Wang ◽  
...  

Abstract Objective To describe the overall clinical characteristics of patients from the Chinese SLE Treatment and Research group (CSTAR) registry in the past 10 years. Methods CSTAR registry originated as a multicenter, consecutive, and prospective design launched in 2009. The data were collected online from 304 rheumatology centers, which covered 30 provinces in China. All data were generated and uploaded in the clinic directly without secondary collection, including demographic, clinical manifestations, disease activity (SLEDAI-2K) and organ damage evaluation (SLICC Damage Index), and lab test results. Biological samples were preserved for future study. Meanwhile, data cleaning and validation were managed by a professional backstage statistician. Results A total of 25,147 SLE patients were registered up to Dec 2019. The mean age of disease onset was 31.2 years with the age of confirmed diagnosis at 32.1 years. The male to female rate was 1:11.9. 4.6% were pediatric patients. The most common clinical presentations at entry were oral ulcer (59.4%), arthritis (55.0%), alopecia (43.22%), skin rash (40.0%), and nephritis (33.5%). The mean SLEDAI score at entry was 4 and 32.6% were in moderate to severely active disease. 66.4% and 37.8% of patients were positive for anti-ds-DNA antibody or low complement level. Additionally, 1.1% of patients were with pulmonary arterial hypertension (PAH). The prevalence rate of cerebrovascular disease was 0.3%. A total of 58.2% of patients were in clinical remission when thery were registered. Conclusions The CSTAR registry is the largest ongoing SLE registry in China so far. More than 25,000 SLE patients are registered and nearly 10,000 are in follow-up visits. This registry has provided high-quality data for future studies and will become an infrastructure for domestic and international collaborations.


2020 ◽  
Vol 16 (3) ◽  
pp. 241-247
Author(s):  
Atifete Ramosaj-Morina ◽  
Alije Keka-Sylaj ◽  
Arbana Baloku Zejnullahu ◽  
Lidvana Spahiu ◽  
Virgjina Hasbahta ◽  
...  

Background: Celiac disease is an immune-mediated disorder characterized by variable clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy. Objectives: The aim of this study was to present the clinical spectrum and patterns of celiac disease in Kosovar Albanian children. Methods: A cross-sectional retrospective study was performed with Albanian children aged 0-18 years, treated for celiac disease in the Pediatric Clinic, University Clinical Center of Kosovo from 2005 to 2016. Results: During the study period, 63 children were treated for celiac disease. The mean age at diagnosis was 5.5 years (SD ± 3.31). The mean age at celiac disease onset was 3.3 years (SD ± 2.02), while the mean delay from the first symptoms indicative of celiac disease to diagnosis was 2.2 years (SD ± 2.09). More than 70% of the patients were diagnosed in the first 7 years of life, mainly presented with gastrointestinal symptoms, while primary school children and adolescents mostly showed atypical symptoms (p<0.001). The classical form of celiac disease occurred in 78% of the cases. Sixty (95%) patients carried HLA-DQ2.5, DQ2.2 and/or HLA-DQ8 heterodimers, and only three of them tested negative. Conclusions: Kosovo, as the majority of developing countries, is still facing the classical form of celiac disease as the dominant mode of presentation; as a result, most children with other forms of the celiac disease remain undiagnosed. : Physicians should be aware of the wide range of clinical presentations and utilize low testing thresholds in order to prevent potential long-term problems associated with untreated celiac disease.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1210.2-1210
Author(s):  
S. Zheng ◽  
P. Y. Lee ◽  
Y. Huang ◽  
Q. Huang ◽  
S. Chen ◽  
...  

Background:The incidence of juvenile gout is increasing in China. The clinical manifestations of juvenile gout and treatment strategies to reduce uric acid levels in children are not well described due to the limited number of cases in the past.Objectives:We aim to describe the clinical characteristic of children with gout and study the treatment response to febuxostat.Methods:These studies were approved by the Institutional Review Board of Guangdong Second provincial General Hospital. We performed a retrospective analysis on 98 juvenile gout patients (age ≤ 18 years) evaluated in our hospital from Jan 2016 to Dec 2019. We analyzed clinical parameters, laboratory data and treatment response.Results:The average age of disease onset in children with gout was 15.2 ± 2.0 years and the youngest patient was 9 years old. The majority of patients were male (94/98) and mean serum uric acid (sUA) level were 705.8 ± 145.7 μmol/L (reference range <420 μmol/L). More than half of the cohort had normal body mass index (mean 24.7 ± 4.7 kg/m2; range 14.9 to 36.1 kg/m2). Renal function was generally normal in these children (serum creatinine 96.9 ± 17.8 μmol/L). In terms of joint manifestations, juvenile gout preferentially affected finger joints (29%), ankles (28%) and metatarsal joints (MTP; 20%). The most frequent sites of initial gout attack were ankles (45%), MTP (39%) and fingers (6%). In addition, tophi can occur in pediatric patients and typically develop in the finger joints (54%). Tophi was observed in about 25% of juvenile gout patients, typically within the first two years of disease onset (mean duration 1.7 ± 0. 9 years). We have found tophi in children as young as 10 years of age.For treatment for chronic hyperuricemia, 32 patients (32.7%) were started on febuxostat and 5 patients (5.1%) received allopurinol. A decrease in sUA was observed in both groups after the first month of treatment (febuxostat: baseline 690.4 ± 99.7 μmol/L to 482.7 ± 140.8 μmol/L vs. allopurinol: baseline 728.8 ±112.8 μmol/L to 565.0 ± 116.7 μmol/L, P=0.477). Serum uric acid of 6 patients in the febuxostat group (none in the allopurinol group) dropped below 360 μmol/L. There were no statistical differences in Cr, AST and ALT between the groups. During follow-up after 3 months, further decline in sUA level were observed in patients treated with febuxostat (409.5 ± 83.4, compared with baseline P<0.001).Conclusion:Juvenile gout has a different pattern of joint involvement and is less associated with elevated BMI compared to gout in adults. We show that febuxostat is effective in reducing uric acid levels in juvenile gout. These findings will help clinicians better understand the clinical manifestations and treatment response in juvenile gout.Figure 1Compared treatment response with allopurinol and febuxostatReferences:[1]Kishimoto K, Kobayashi R, Hori D, et al. Febuxostat as a Prophylaxis for Tumor Lysis Syndrome in Children with Hematological Malignancies. Anticancer Res. 2017 Oct;37(10):5845-5849.[2]Lu, C.C., et al. Clinical characteristics of and relationship between metabolic components and renal function among patients with early-onset juvenile tophaceous gout. J Rheumatol, 2014. 41(9): p. 1878-83.Disclosure of Interests:None declared


2015 ◽  
Vol 41 (5) ◽  
pp. 427-432
Author(s):  
Paulo de Tarso Müller ◽  
Hamilton Domingos ◽  
Luiz Armando Pereira Patusco ◽  
Gabriel Victor Guimarães Rapello

Objective: To look for correlations between lung function and cardiac dimension variables in morbidly obese patients, in order to test the hypothesis that the relative size of the small airways is independently correlated with left ventricular hypertrophy. Methods: This was a retrospective study involving 192 medical records containing a clinical protocol employed in candidates for bariatric surgery between January of 2006 and December of 2010. Results: Of the 192 patients evaluated, 39 (10 males and 29 females) met the inclusion criteria. The mean BMI of the patients was 49.2 ± 7.6 kg/m2, and the mean age was 35.5 ± 7.7 years. The FEF25-75/FVC, % correlated significantly with left ventricular posterior wall thickness and relative left ventricular posterior wall thickness, those correlations remaining statistically significant (r = −0.355 and r = −0.349, respectively) after adjustment for weight, gender, and history of systemic arterial hypertension. Stepwise multivariate linear regression analysis showed that FVC and FEV1 were the major determinants of left ventricular mass (in grams or indexed to body surface area). Conclusions: A reduction in the relative size of the small airways appears to be independently correlated with obesity-related cardiac hypertrophy, regardless of factors affecting respiratory mechanics (BMI and weight), gender, or history of systemic arterial hypertension. However, FEV1 and FVC might be important predictors of left ventricular mass in morbidly obese individuals.


2020 ◽  
Vol 26 (1) ◽  
pp. 35-45 ◽  
Author(s):  
Marianna Bruno ◽  
Adam Castaño ◽  
Arianna Burton ◽  
Justin L. Grodin

AbstractTransthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, life-threatening disease characterized by deposition of insoluble amyloid fibrils in the myocardium, resulting in cardiac structural and functional abnormalities and ultimately heart failure. Disease frequency is reportedly lower in women than men, but sex-related differences have not been well established. We conducted a systematic literature review (SLR), based on PRISMA-P guidelines and registered with PROSPERO, to assess whether the epidemiology and clinical presentation of ATTR-CM differ between women and men. MEDLINE, Embase, and Cochrane databases and selected conference proceedings were searched (August 16, 2019) to identify observational and clinical studies reporting sex-specific data for patients with wild-type or hereditary ATTR-CM. Of 193 publications satisfying final eligibility criteria, 69 studies were included in our pooled analysis. Among the 4669 patients with ATTR-CM analyzed, 791 (17%) were women, including 174 (9%), 366 (29%), and 251 (18%) in studies of wild-type, hereditary, and undefined ATTR-CM, respectively. Data available on disease characteristics were limited and very heterogeneous, but trends suggested some cardiac structural/functional differences, i.e., lower interventricular septal and posterior wall thickness and left ventricular (LV) end diastolic diameter, and higher LV ejection fractions, in women versus men across ATTR-CM subtypes. Because LV wall thickness > 12 mm is generally the suggested threshold for ATTR-CM diagnosis in both sexes, smaller cardiac anatomy in women with the disease may lead to underdiagnosis. Additional research and studies are needed to elucidate potential disparities between sexes in ATTR-CM frequency, clinical characteristics, and underlying biological mechanisms. This study was registered within the International Prospective Register of Systematic Reviews (PROSPERO) database of the University of York (CRD42019146995).


2020 ◽  
Vol 13 (1) ◽  
pp. 712-717
Author(s):  
Morteza Mousavi-Hasanzadeh ◽  
Hossein Sarmadian ◽  
Fatemeh Safi ◽  
Mohammad Jamalian ◽  
Amir Almasi-Hashiani

Background: The number of confirmed cases of COVID-19 is increasing. Here we present the clinical characteristics and outcomes of COVID-19 in Arak, Iran. Methods: In this study, 139 COVID-19 confirmed cases from 15 February to 15 March 2020 in Arak, Iran, were investigated. The clinical signs, symptoms, laboratory and radiological findings and outcomes were analyzed. Results: The mean age of the patients was 55.41 years (S.D.: 17.11) and 55.40% of them were males. 26.81% of patients had recently traveled to other epidemic cities. The most common clinical manifestations were fever (71.64%), cough (67.16%), shortness of breath (55.22%), muscle ache (50.00%) and the most prevalent complications were taste and smell disruption (29.5%), weakness (22.3%), anorexia (20.1%) and acute respiratory distress syndrome (ARDS) (15.8%). Almost half of the patients had lymphopenia, an elevated level of erythrocyte sedimentation rate (ESR) and C - reactive protein (CRP). In terms of outcome, 9.3% of patients needed an ICU admission as a result of ARDS in which 15.32% were directly admitted to the ICU. 43.2% of patients have been discharged and the case fatality rate (CFR) was estimated as 11.5%. Conclusion: COVID-19 pneumonia usually occurred at an age older than 50 years and in the male gender. The most common initial clinical laboratories and radiological presentations are fever, cough, lymphopenia with elevated CRP and ESR and Bilateral mixed ground-glass opacities with consolidation.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhe Zhang ◽  
Siyuan Fan ◽  
Haitao Ren ◽  
Lixin Zhou ◽  
Hongzhi Guan

Abstract Background Encephalitis associated with antibodies against alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) is an extremely rare type of antibody-mediated encephalitis. This research aims to investigate the clinical characteristics and prognosis of anti-AMPAR encephalitis. Methods This retrospective study enrolled nine patients with anti-AMPAR encephalitis. Demographic information, clinical manifestations, laboratory and radiological findings, treatment and response were collected and analyzed. These patients were followed up with an average period of 72 weeks to gather prognostic information. Results Nine patients (7 females and 2 males) were enrolled with a mean age at disease onset of 59 years old. Three clinical pictures, including limbic encephalitis (n = 7; 78%), pure amnesia (n = 1; 11%) and fulminant encephalitis (n = 1; 11%) were identified. New symptoms of dysphagia and deafness were identified in the clinical spectrum of anti-AMPAR encephalitis. All patients had positive blood AMPAR antibodies, and six of them (67%) had paired positive antibodies in cerebrospinal fluid (CSF). Brain magnetic resonance imaging (MRI) was abnormal in 75% of the patients with no specific patterns recognized. Six patients (67%) had tumors, including lung cancers and thymomas. After immunotherapy and oncotherapy, partial improvement of neurological symptoms was observed among all 6 patients with available records during their hospitalization. After a mean follow-up of 72 weeks, 3 patients had marked decrease of modified Rankin Scale (mRS) score, 1 patient had unchanged mRS score, 4 patients died and the other one was lost. Conclusions Anti-AMPAR encephalitis mainly presents as limbic encephalitis, and is paraneoplastic in 67% of cases. Thus, intensive screening for tumors is recommended for all anti-AMPAR patients. Although patients showed a good short-term therapeutic response, the overall prognosis was not satisfactory.


2009 ◽  
Vol 30 (5) ◽  
pp. 541-541
Author(s):  
Melania Pulcrano ◽  
Emiliano Palmieri ◽  
Deborah Mannavola ◽  
Irene Campi ◽  
Danila Covelli ◽  
...  

ABSTRACT Background The clinical manifestations of resistance to thyroid hormone (RTH) are highly variable, and the impact of RTH on the cardiovascular system has been poorly investigated. Aim The objective of the study was to evaluate the cardiovascular characteristics of 16 untreated and asymptomatic patients with RTH compared with 16 euthyroid healthy controls to define the cardiovascular involvement in RTH syndrome. Patients and Methods Sixteen untreated and asymptomatic RTH patients (eight males; aged 33 ± 12 yr, range 21–45 yr) and 16 controls (nine males; aged 33 ± 5 yr, range 24–42 yr) were enrolled. Clinical data, thyroid status, and echocardiographic results were recorded. Results Heart rate was comparable with that of controls, whereas arterial pressure was higher than controls. Mean interventricular septum diastolic thickness and mean left ventricular (LV) posterior wall diastolic thickness were significantly lower in RTH patients than controls with a consequent significant decrease of the mean LV mass and LV mass indexed by body surface area. Patients also had abnormalities of myocardial relaxation as indicated by a significant increase of peak A and consequent reduction of the early to late ratio. Finally, systemic vascular resistance was significantly higher in RTH patients than controls. Conclusions Our results suggest the presence of cardiovascular alterations in asymptomatic and untreated RTH patients similar to those reported in hypothyroid patients. Our strict selection likely created a bias in the inclusion of a particular type of RTH patients, who could represent a minority of patients with RTH. However, no correlation was found between the type of mutation and cardiovascular characteristics of RTH patients.


1993 ◽  
Vol 264 (3) ◽  
pp. H739-H746 ◽  
Author(s):  
S. Miyazaki ◽  
Y. Goto ◽  
H. Nonogi ◽  
Y. Kawase ◽  
K. Haze ◽  
...  

Changes in left ventricular diastolic properties of pacing-induced stunned myocardium were examined in 10 anesthetized dogs instrumented with a micromanometer for left ventricular pressure and sonomicrometers for left ventricular short axis, anterior and posterior segment lengths, and posterior wall thickness. After the creation of a critical stenosis on a carotid-circumflex coronary artery bypass, left ventricular pressure and dimensions were recorded simultaneously during temporary superior and inferior vena caval occlusion to allow for the construction of end-diastolic pressure-segment length curves. After 15 min of high-frequency pacing (190–220 beats/min), measurements were repeated and compared with those before pacing. The mean lengthening rate of each dimension during the first half of diastole was calculated as an index of early diastolic function. Three minutes after the end of pacing, coronary blood flow and perfusion pressure were unchanged, whereas systolic function of the posterior wall was depressed, indicating stunning of the posterior myocardium. The time constant of left ventricular pressure decay was prolonged by 14%. The mean lengthening rate during the first half of diastole decreased by 50% in the left ventricular internal short axis and by 119% in the posterior segment. Despite the significant impairment of early diastolic function, the regional end-diastolic pressure-segment length relation of the posterior wall was unchanged. Thus, in contrast to the results reported for pacing-induced ischemia that were measured immediately after pacing, the distensibility of the left ventricular wall in stunned myocardium induced by pacing was unchanged despite depressed early diastolic function.


2011 ◽  
Vol 26 (S2) ◽  
pp. 875-875
Author(s):  
E. Lee ◽  
C.M. Leung

IntroductionPatients with bipolar disorder are at risk of obesity, metabolic syndrome and diabetes mellitus. Little was known about the association of clinical characteristics of bipolar disorder and diabetes mellitus.ObjectivesInvestigate the clinical characteristics of patients with bipolar disorder and diabetes mellitus.AimsIdentify the risk factors of medical comorbidity.MethodsPatients suffering from bipolar disorder, according to DSM-IV classification, with and without diabetes mellitus were retrieved from computer database in a university teaching hospital psychiatric outpatient clinic. Patients with diabetes mellitus were compared with patients without diabetes mellitus after matching with sex and age.ResultsOne hundred and fifty patients with bipolar disorder (30 with diabetes mellitus and 120 without diabetes mellitus) were collected. All patients were Chinese and 86.7% were female. For patients with and without diabetes mellitus, the mean (SD) age were 49.9 (9.3) years and 49.4 (8.9) years respectively. Their mean (SD) duration of mental illness were 18.1 (10.9) years and 16.8 (10.6) years and the mean number of admissions were 3.4 (4.2) and 3.2 (4.3) for patients with and without diabetes mellitus respectively. The use of antipsychotics and mood stabilizer were similar between patients with and without diabetes mellitus. Hypertension and dyslipidemia were statistically significant factors associated with diabetes mellitus among patients with bipolar disorder.ConclusionsHypertension and dyslipidemia are associated with diabetes mellitus among Chinese patients with bipolar disorder. Psychiatrists should be alerted to screen and monitor for hypertension, dyslipidemia and diabetes mellitus among patients with bipolar disorder.


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