Polyvalvular Disease in a Fetus with Normal Chromosomes

Congenital polyvalvular disease is a spectrum of macroscopic and microscopic anomalies of the 4 valves of the heart. It is most commonly associated with chromosomal abnormalities, such as trisomy 13 and trisomy 18. Kowal‐Vern et al. and Bartram et al. describe a total of 4 cases of congenital polyvalvular disease in patients with normal chromosomes by standard banding pattern analysis. Each of their patients, however, had associated extracardiac anomalies. Of the 8 previously reported cases of congenital polyvalvular disease with no extracardiac anomalies, chromosome analysis was not performed. We report a prenatally diagnosed case of polyvalvular disease with normal chromosomes and no extracardiac anomalies.     

The Role of Celiac Disease in Severity of Liver Disorders and Effect of a Gluten Free Diet on Diseases Improvement

Context

Celiac disease (CD) is defined as a permanent intolerance to ingested gluten. The intolerance to gluten results in immune-mediated damage of small intestine mucosa manifested by villous atrophy and crypt hyperplasia. These abnormalities resolve with initiationa gluten-free diet.

Evidence Acquisition

PubMed, Ovid, and Google were searched for full text articles published between 1963 and 2012. The associated keywords were used, and papers described particularly the impact of celiac disease on severity of liver disorder were identified.

Results

Recently evidence has emerged revealingthat celiac disease not only is associated with small intestine abnormalities and malabsorption, but is also a multisystem disorder affecting other systems outside gastrointestinal tract, including musculo-skeletal, cardiovascular and nervous systems. Some correlations have been assumed between celiac and liver diseases. In particular, celiac disease is associated with changes in liver biochemistry and linked to alter the prognosis of other disorders. This review will concentrate on the effect of celiac disease and gluten-free diets on the severity of liver disorders.

Conclusions

Although GFD effect on the progression of CD associated liver diseases is not well defined, it seems that GFD improves liver function tests in patients with a hypertransaminasemia.     

Behçet’s disease patterns and subsets in a cohort of Egyptian patients

Aim of the work

To study patterns and disease subsets of Behcet’s disease (BD) patients admitted to Cairo University Hospitals and to detect whether relapse of the disease will affect the same system every time or not.

Acute kidney injury post–transcatheter aortic valve replacement

Transcatheter aortic valve replacement (TAVR) is a treatment option in high‐risk patients with severe aortic stenosis who are not surgical candidates. In light of emerging evidence, it is being increasingly performed even in intermediate‐risk patients in recent years. Patients who develop acute kidney injury (AKI) following TAVR are known to have worse outcomes. The objective of this concise review was to identify the prevalence and the impact of AKI following TAVR on patient outcomes by including the most recent literature in our search. After a thorough search on MEDLINE, Google Scholar, and PubMed, we included all literature relevant to AKI following TAVR. We found that AKI was caused by a variety of reasons, such as hemodynamic instability during rapid pacing, blood transfusion, periprocedural embolization, and use of contrast medium, to name a few. In patients who developed AKI following TAVR, 30‐day and 1‐year mortality were increased. Further, in these patients, length and cost of hospital stay were increased as well. Preventive measures such as optimal periprocedural hydration, careful contrast use, and techniques to prevent embolization during device implantation have been tried with limited success. Given that TAVR is expected to be increasingly performed, this review aimed to summarize the rapidly expanding currently available literature in an effort to reduce procedural complications and thereby improve patient outcomes.     

High Rate of Positive Anti-Tissue Transglutaminase Antibodies in Chronic Liver Disease

Background: Since the recognition of tissue transglutaminase (tTG) as the target antigen of anti-endomysium antibodies, several ELISA assays using either guinea pig or human recombinant tTG have been developed. The aim of the study was to compare the behaviour of anti-tTG and anti-endomysium antibodies assays in coeliacs and in patients with chronic liver disease. Methods: 34 patients (24 women, 34.9 ± 12.5 years) with coeliac disease and 41 with chronic liver disease (14 women, 57 ± 11.2 years), including 19 cirrhotics, were evaluated for anti-endomysium antibodies by indirect immunofluorescence and for anti-tTG IgA antibodies by ELISA, using guinea pig liver or human recombinant transglutaminase. Results: The prevalences of anti-tTG and anti-endomysium antibodies were 100% in patients with coeliac disease at diagnosis, 75% and 64.3% in patients on a gluten-free diet. All liver disease patients were negative for anti-endomysium antibodies, while 11 (26.8%) were positive for anti-tTG. All these patients had liver cirrhosis and represented 57.9% of all cirrhotics. The presence of anti-tTG was associated with higher Child-Pugh scores. The use of human transglutaminase determined a reduction in the rate of positive results; however, the rate of positive anti-tTG was still 17.1% in all liver disease patients and 31.6% in cirrhotics. Conclusions: Our data confirm that anti-tTG have a similar sensitivity compared with anti-endomysium antibodies assay in coeliacs. However, a high prevalence of positive anti-tTG results is observed in cirrhotic patients, even when human recombinant tTG is used. The high prevalence of positive results among cirrhotic patients is associated with more advanced liver disease.     

Increased Serum Levels of Eotaxin in Patients with Inflammatory Bowel Disease

Background: The CC-chemokines eotaxin and eotaxin-2, produced by epithelial and phagocytic cells, are potent and selective chemoattractants for eosinophils and basophils. The eosinophil is a potent inflammatory cell thought to play an important role in the pathogenesis of inflammatory bowel disease (IBD). In this study we investigated the serum concentrations of eotaxin and eotaxin-2 in patients with Crohn disease and ulcerative colitis. Methods: Thirty-one patients with Crohn disease, 35 patients with ulcerative colitis and 41 control patients were studied. Eotaxin and eotaxin-2 serum levels were measured with solid phase sandwich enzyme-linked immunosorbent assays. Results:     

克山病及大骨节病患者与其对照人群的发硒水平

目的在克山病,大骨节病共存的病区寻找两病发病共同的危险因素。方法用病例对照方法比较两病患者及对照发硒水平。结果克山病患者、大骨节病患者发硒水平明显低于内外对照组。结论在两病共存地区,低硒是这两种地方病共同的危险因素     

Liver Disease in the Patient with Fontan Circulation

The Fontan procedure has undergone many modifications since first being performed on a patient with tricuspid valve atresia in 1968. It is now the procedure of choice for individuals born with single‐ventricle physiology or for those in whom a biventricular repair is not feasible. Forty years of experience with the Fontan procedure have gradually revealed the shortfalls of such a circulatory arrangement. Sequelae related to the underlying congenital anomaly or to the altered physiology of passive, nonpulsatile flow through the pulmonary arterial bed can result in failure of the Fontan circulation over time. Liver abnormalities including abnormalities in the clotting cascade have been well documented in Fontan patients. The clinical significance of these findings, however, has remained poorly understood. As Fontan survivors have increased in age and number, we have begun to better recognize subclinical hepatic dysfunction and the contribution of liver disease to adverse outcomes in this population. The purpose of this review is to summarize the existing data pertaining to liver disease in the Fontan population and to identify some questions that have yet to be answered.     

中国致残性克罗恩病患者危险因素分析

近年来免疫抑制剂和生物抗体制剂在克罗恩病（CD）的治疗中取得较大成功,随之提出疾病早期即应用免疫抑制剂和（或）生物抗体制剂的top-down治疗方案,但该方案可引起严重的不良反应如淋巴瘤或结核.目前如何选择合适的CD患者行top-down治疗已成为研究热点.目的：探讨中国致残性CD患者的危险因素,以期指导top-down 治疗方案的临床应用.方法：选取1998年1月-2009年12月上海仁济医院诊断满5年或未满5年但至少符合一项致残标准的CD患者.采用Logistic回归分析筛选2年和5年致残性CD患者的危险因素.结果：共216例CD患者纳入本研究,其中2年和5年致残性CD患者分别为156例（72.2%）和177例（81.9%）.Logistic回归分析示2年和5年致残性CD患者的危险因素均为疾病活动时需糖皮质激素缓解（2年：OR=8.175,95% CI：4.102-16.294,P=0.000;5年：OR=9.703,95% CI：4.297-21.910,P=0.000）和诊断时存在肛周疾病（2年：OR=7.056,95 % CI：1.959-25.423,P=0.003; 5年：OR=6.734,95% CI：1.466-30.922,P=0.014）,联合这两个因素预测2年和5年致残性CD的准确率分别为79.2%和81.9%.结论：中国CD患者伴有疾病活动时需糖皮质激素缓解和诊断时存在肛周疾病等致残性危险因素时,说明其适用top-down治疗.     

Extracardiac Complications in Adults with Congenital Heart Disease

With the increasing number of adults living with repaired, or unrepaired, congenital heart disease, there is a growing incidence of extracardiac comorbidities. These comorbidities can affect various organ systems in complex ways, and may have a significant impact on a patient's quality of life and survival. Many of these potential complications may go undiagnosed until there is already a significant bearing on the patient's life. Therefore, it is important for physicians who care for the adult congenital patient to be mindful of these potential extracardiac complications, and actively assess for these complications in their adult congenital practice. Continued research to identify modifiable risk factors is needed so that both preventative and therapeutic management options for these extracardiac complications may be developed.     

Advanced chronic kidney disease: Relationship to outcomes post‐TAVR,a meta‐analysis

Chronic kidney disease (CKD) is associated with worse outcomes in high‐surgical‐risk patients undergoing transcatheter aortic valve replacement (TAVR). However, it is unclear whether this relationship is apparent in lower‐surgical‐risk patients. We sought to analyze existing literature to assess whether or not advanced CKD is associated with increased mortality or a greater incidence of adverse events (specifically major stroke, bleeding, and vascular complications). We searched PubMed and Embase (2008–2017) for relevant studies. Studies with <1 year follow‐up and those not evaluating advanced CKD or outcomes post‐TAVR were excluded. Our co–primary endpoints were the incidence of short‐term mortality (defined as in‐hospital or 30‐day mortality) and long‐term mortality (1 year). Our secondary endpoints included incidence of major stroke, life‐threatening bleeding, and major vascular complications. Eleven observational studies with a total population of 10709 patients met the selection criteria. Among patients with CKD there was an increased risk of short‐ and long‐term mortality in high‐surgical‐risk patients who underwent TAVR (hazard ratio [HR]: 1.51, 95% confidence interval [CI]: 1.22–1.88 and HR: 1.56, 95% CI: 1.38–1.77, respectively; P < 0.01). However, there was no association between CKD and mortality in low‐ to intermediate‐risk patients (HR: 1.35, 95% CI: 0.98–1.84, P = 0.06 in short‐term and HR: 1.08, 95% CI: 0.92–1.27, P = 0.34 in long‐term). In low‐ to intermediate‐risk TAVR patients, advanced CKD is not associated with increased mortality or poorer safety outcomes. These findings should be factored into the clinical decision‐making process regarding TAVR candidacy.     

广东番禺潭洲镇农村中小学生先天性心脏病和风湿性心脏病的患病水平现状

对4946名5-18岁农村中小学生以心脏听诊为主的先天性心脏病（CHD）和风湿性心脏病（RHD）调查，检出先心病22例，患病率4．45‰；以室间隔缺损最多见（50％）。平均诊断年龄7．7岁，平均手术年龄8．4岁。风心病6例，患病率1．21‰，均有二尖瓣损害。两病均女性明显高于男性。与国内大多数报道相比，本地区农村中小学生先心病和风心病患病率较高。通过中小学生体检，早期发现确诊先心病和风心病，对先心病的手术根治、风心病的二级预防有重要意义。     

炎症性肠病患者外周血淋巴细胞功能相关抗原-1的表达与临床特征的关系

背景：淋巴细胞功能相关抗原-1（LFA-1）是B2整合素家族成员,广泛表达于几乎所有白细胞中。LFA-1／ICAM-1共刺激分子在炎症性肠病（IBD）的发生中发挥重要作用。目的：研究IBD患者外周血LFA-1的表达变化,分析其与患者临床特征的相关性。方法：纳入20名健康体检者和93例IBD患者（其中CD66例,UC27例）,流式细胞术检测外周血CD4＋细胞和外周血单个核细胞（PBMC）中LFA-1的平均荧光强度（MF1）,并分析其与疾病活动度、疾病部位、疾病行为和临床指标的相关性。结果：CD和UC患者PBMC中LFA-1的MFI均显著低于健康对照组（P〈0．05）。CD和UC患者缓解期外周血CD4＋细胞和PBMC中LFA-1的MFI与活动期无明显差异。空回肠型CD患者外周血CIM’细胞和PBMC中LFA-1的MFI较回肠型、结肠型、上消化道型CD患者明显升高（P〈0．05）;狭窄型CD患者外周血CD4＋细胞中LFA-1的MFI显著高于非狭窄非穿透型CD患者（P〈0．05）;有2种肛周病变的CD患者外周血CD4＋细胞和PBMC中LFA-1的MFI显著高于有1种肛周病变者（P〈0．05）。ESR、血清CRP与CDAI评分、Mayo评分呈正相关（P〈0．05）;HCT、Hb、血清ALB与CDAI评分、Mayo评分呈负相关（P〈0．05）。结论：LFA．1参与IBD的发病过程,与CD疾病行为的关系尤为密切,但用于判断疾病活动度尚需进一步研究。     

Dipeptidyl Peptidase IV (DP IV,CD26) in Patients with Inflammatory Bowel Disease

Background: Dipeptidyl peptidase IV (DP IV, CD26), a serine protease with broad tissue distribution and known activity in serum, participates in T cell activation and promotes a Th1 cytokine response, a function in part attributable to its enzymatic activity. We hypothesized that the activity of DP IV in serum and expression of CD26/DP IV in lymphocytes may be altered in patients with inflammatory bowel disease (IBD). Methods: Serum DP IV activity and CD26 (DP IV)-positive peripheral blood lymphocytes were measured in 110 patients with IBD (Crohn disease (CD): n = 63, ulcerative colitis (UC): n = 47). Additionally, T cell activation antigens (CD25, CD95) and costimulatory molecules (CD28) were evaluated. The same analyses were carried out in healthy volunteers (HC, n = 28). Thirty-nine patients with CD and 28 patients with UC were reassessed 3-6 months after the first visit. Results:     

Interleukin-22 is up-regulated in serum of male patients with ankylosing spondylitis

Aim of the workTo expand our understanding of interleukin-22 (IL-22) role in the pathogenesis of ankylosing spondylitis (AS).Patients and methodsThe study included 99 AS male patients and 97 male controls. Serum IL-22 levels were determined using an enzyme-linked immunosorbent assay.ResultsThe mean age of AS patients was 35.5 ± 9.6 years, with an age at onset of 32.1 ± 6.8 years and disease duration of 10.1 ± 6.2 years. The disease duration was <5 years in 19.2 %, 5–10 years in 43.4 % and >10 years in 37.4 %. HLA-B27 was positive in 54.5 %. Median (interquartile range) levels of IL-22 were significantly higher in patients than in controls (17.3; 12.8–20.2 vs 12.3; 8.3–15.8 pg/ml;p < 0.001). Serum IL-22 levels were significantly higher in patients with disease duration of 5–10 years compared to those with disease duration >10 years. IL-22 level tended to be higher in HLA-B27-negative patients compared to positive (p = 0.13). IL-22 was not associated to the disease activity or functional status. Serum IL-22 at a cut-off point of 13.4 pg/mL could significantly distinguish AS patients from controls (area under the curve = 0.76; p < 0.001). Age-adjusted multinomial logistic regression analysis demonstrated that individuals classified in the middle (OR = 3.4; p = 0.001) and upper (OR = 12.8; p < 0.001) tertiles of the IL-22 level range were more likely to develop AS. IL-22 levels significantly inversely correlated with the disease duration (r = ?0.33; p = 0.001).ConclusionsIL-22 serum levels were up-regulated in the serum of AS patients. These levels were not affected by disease activity, while they showed a negative association with the disease duration.