{"title":"Cardiovascular risk assessment: The key path toward precision prevention","authors":"Jianxin Li, Xiangfeng Lu","doi":"10.1002/cdt3.90","DOIUrl":"10.1002/cdt3.90","url":null,"abstract":"<p>Cardiovascular disease (CVD) is the most common noncommunicable disease and the leading cause of death globally.<span><sup>1</sup></span> It has resulted in enormous economic and social burdens, while posing a great challenge for the prevention and control of CVD worldwide, especially in China. Assessment and management of cardiovascular risk is the foundation of CVD prevention, and is strongly recommended by guidelines.<span><sup>2-4</sup></span> Additionally, it can help screen the target population who would benefit most from the lower-cost intervention, while informing them the cardiovascular risk, which will help in promoting self-management. It can also guide doctors in making logical management decisions, and implement precision prevention and treatment strategies to reduce the CVD burden.<span><sup>2, 4</sup></span> Therefore, it is a key approach in achieving the goals of “Good Health and Well-being” in the United Nations and “Healthy China 2030” in China. Here, we briefly highlight several advances in cardiovascular risk assessments.</p><p>The Framingham Heart Study introduced the term “risk factor” in 1961, and identified a series of risk factors of CVD subsequently, such as cholesterol, blood pressure, glucose, and obesity.<span><sup>5</sup></span> By integrating multiple conventional risk factors, a general cardiovascular risk instrument was further developed to assist in identifying and treating individuals at high risk.<span><sup>6</sup></span> Since the concept of cardiovascular risk assessment and stratification was adopted by the third Adult Treatment Panel of the National Cholesterol Education Program in 2001, it has led to the development of effective treatment and preventive strategies in clinical practice.</p><p>A systematic approach to cardiovascular risk assessment includes the collection of information to calculate the cardiovascular risk, identification of the target high-risk population, and implementation of individual management according to the risk level. Therefore, risk-prediction models are major components of risk-based CVD prevention and control efforts. Several cardiovascular risk models have been developed using conventional risk factors to assist in clinical practice, such as the Reynolds Risk Score<span><sup>7, 8</sup></span> and the Pooled Cohort Equations (PCE)<span><sup>9</sup></span> in the United States, the QRISK in the United Kingdom,<span><sup>10</sup></span> the ASSIGN Score in Scotland,<span><sup>11</sup></span> the Systematic Coronary Risk Evaluation (SCORE) model in Europe,<span><sup>12</sup></span> and the Prediction for Atherosclerotic CVD Risk in China (China-PAR) equations.<span><sup>13</sup></span> In addition, World Health Organization has derived the risk prediction charts for 21 Global Burden of Disease regions to facilitate the risk-based CVD prevention in low- and middle-income countries.<span><sup>4</sup></span> These models, taking account of balance between good performance and ac","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"273-276"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46132504","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":"Efficacy and safety of different dual antiplatelet strategies in patients undergoing percutaneous coronary intervention: A systematic review and network meta-analysis","authors":"Yuttana Wongsalap, Kirati Kengkla, Preyanate Wilairat, Khemanat Ratworawong, Surasak Saokaew, Chaisiri Wanlapakorn","doi":"10.1002/cdt3.85","DOIUrl":"10.1002/cdt3.85","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Dual antiplatelet therapy (DAPT) is key for preventing ischaemic events post-percutaneous coronary intervention (PCI). Various DAPT modifications like the shortened duration or P2Y12 inhibitor (P2Y12i) de-escalation are implemented to reduce bleeding risk. However, these strategies lack direct comparative studies. This study aimed to assess the efficacy and safety of such DAPT strategies, including de-escalated and short DAPT, in patients undergoing PCI.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We searched PubMed, Embase, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases for relevant randomized controlled trials (RCTs). We performed a network meta-analysis (NMA) to estimate risk ratios (RRs) and 95% confidence intervals (CIs). The primary efficacy endpoint was major adverse cardiac events (MACEs), and the primary safety endpoint was major bleeding. Secondary endpoints included individual components of MACEs and net adverse clinical events (NACEs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 17 RCTs comprising 53,156 patients (median age, 62.0 years, 24.8% female) were included. NMA suggested that de-escalation DAPT was associated with a significantly lower risk of MACEs (risk ratio [RR] = 0.79, 95% confidence interval [CI] = 0.64–0.98), bleeding (RR = 0.63, 95% CI = 0.49–0.82), and NACEs (RR = 0.69, 95% CI = 0.60–0.79) compared with standard DAPT. Short DAPT followed by P2Y12i monotherapy exhibited a significantly decreased risk of major bleeding (RR = 0.63, 95% CI = 0.46–0.86) compared with standard DAPT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>De-escalation DAPT was the most effective strategy for preventing the risk of MACEs without increasing bleeding events, while short DAPT followed by P2Y12i monotherapy was the most effective strategy for reducing the risk of bleeding among patients undergoing PCI.</p>\u0000 </section>\u0000 </div>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"299-308"},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44126978","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":"Nut consumption and urogenital and genital, gastrointestinal and women-related cancers: Assessment and review","authors":"Maryam Mohamadi, Periklis Dousdampanis, Zahra Ahmadi, Soheila Pourmasumi, Monavare Naderi, Nahid Zainodini, Alireza Nazari","doi":"10.1002/cdt3.87","DOIUrl":"10.1002/cdt3.87","url":null,"abstract":"<p>The prevalence of cancer, especially in industrial countries, is a major problem for health and treatment systems. Cancer can affect the quality of life of all family members and has many negative effects on the community. Despite many advances in cancer treatment, this disease is still a major worldwide problem. There is strong evidence that dietary habits are effective in protecting against cancer and even helping in the disease treatment progress. Nuts with various biologically-active compounds, such as vitamins, phytosterols, isoflavones, flavonoids, and polyphenols have been reported to possess anticarcinogenic properties. Accordingly, this review provides an insight into the association between nut consumption and the prevention of some cancers. We considered the cancers related to the urogenital and genital tract, gastrointestinal tract, as well as women-related cancers. Both cell culture examinations and experimental animal studies alongside observational epidemiological studies demonstrated that regular consumption of a nut-enriched diet is able to reduce the risk of these cancers.</p>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"277-287"},"PeriodicalIF":0.0,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47968479","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":"Pure red cell aplasia and minimal residual disease conversion associated with immune reconstitution in a patient with high-risk multiple myeloma","authors":"Xianghong Jin, Xianyong Jiang, Wei Wang, Shuangjiao Liu, Bing Han, Jianhua Han, Junling Zhuang","doi":"10.1002/cdt3.81","DOIUrl":"10.1002/cdt3.81","url":null,"abstract":"<p>A second bone marrow aspiration and biopsy showed pure red cell aplasia in this case.\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"341-344"},"PeriodicalIF":0.0,"publicationDate":"2023-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48967394","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 lack of association between different LDL-C levels and oxidized LDL in patients with type 2 diabetes","authors":"Soghra Rabizadeh, Seyed Arsalan Seyedi, Seyed Ali Nabipoorashrafi, Maryamossadat Omidvar Siahkalmahalleh, Amirhossein Yadegar, Fatemeh Mohammadi, Armin Rajab, Alireza Esteghamati, Manouchehr Nakhjavani","doi":"10.1002/cdt3.84","DOIUrl":"10.1002/cdt3.84","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>High concentrations of low-density lipoprotein cholesterol (LDL-C) have been a known risk factor for cardiovascular diseases. Also, the role of oxidized LDL (ox-LDL) in forming atherosclerosis plaque has been proven. However, it has not yet been proven that atherogenic LDL-C by-products like ox-LDL will decrease by keeping the LDL levels at the desired level. This study aimed to examine the relationship between LDL-C and ox-LDL in different LDL-C values in patients with type 2 diabetes (T2D).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this cross-sectional study, 347 patients with T2D who received statins were enrolled. LDL-C values were defined into four groups as LDL-C < 55 mg/dL, 55 mg/dL ≤ to <70 mg/dL, 70 mg/dL ≤ to <100 mg/dL and LDL-C ≥ 100 mg/dL. Total cholesterol, triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), and ox-LDL were studied in the four defined groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ox-LDL levels were not different among the four groups (<i>p</i> = 0.30). In addition, LDL-C and ox-LDL levels had no significant correlation <i>(r</i> = 0.480, <i>p</i> = 0.376). Additionally, based on this study analysis, ox-LDL levels were significantly correlated with TG levels (<i>r</i> = 0.119, <i>p</i> < 0.05) and TG/HDL ratio (<i>r</i> = 0.390, <i>p</i> < 0.01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>It is concluded that ox-LDL levels were not associated with different LDL-C level categories from <55 mg/dL to >100 mg/dL in patients with T2D. However, the revealed association of ox-LDL with TG level and TG/HDL ratio may be considered in the clinic.</p>\u0000 </section>\u0000 </div>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"329-335"},"PeriodicalIF":0.0,"publicationDate":"2023-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48217313","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":"Mechanism of RBBP8-mediated homologous recombination repair in gastric cancer synthetic lethal","authors":"Yang Yu, Shuxia Wang, Yanhua Yin, Guangsheng Wang","doi":"10.1002/cdt3.75","DOIUrl":"10.1002/cdt3.75","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>It is of great clinical significance to further explore new strategies and potential combined therapeutic targets for gastric cancer. This study aimed to investigate the synthetic lethal effect of RBBP8 molecular intervention combined with a poly ADP ribose polymerase (PARP) inhibitor in non-BRCA mutant gastric cancer and clarify the mechanism by which RBBP8 regulates homologous recombination repair.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The role of RBBP8 in DNA damage repair was observed using bioinformatic analysis, western blot analysis, and immunofluorescence. The synthetic lethal effect was verified using 3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium, inner salt (MTS)and flow cytometry apoptosis experiments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the patients with gastric cancer treated with chemotherapy, the prognosis of patients with high RBBP8 expression levels was worse (homologous recombination [HR] = 1.54, <i>p</i> = 0.028). RBBP8 knockdown induced DNA damage and had a synergistic effect with PARP inhibitor treatment on cell viability inhibition and cell apoptosis in AGS (generic code for human gastric adenocarcinoma cells) (<i>t</i> = 11.154, <i>p</i> < 0.001) and N87 (<i>t</i> = 6.362, <i>p</i> < 0.001) cells. RBBP8 knockdown inhibited RAD51 activation and DNA terminal excision in homologous recombination repair.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>RBBP8 is involved in homologous recombination repair, and molecular intervention into RBBP8 could achieve a synthetic lethal effect with PARP inhibitor treatment in gastric cancer cells.</p>\u0000 </section>\u0000 </div>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 3","pages":"250-257"},"PeriodicalIF":0.0,"publicationDate":"2023-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/43/5f/CDT3-9-250.PMC10497805.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10271444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dicky L. Tahapary, Syahidatul Wafa, Christian Tricaesario, Felix F. Widjaja, Jimmy Tandradynata, Rudy Kurniawan, William Djauhari, Afif H. Maruf, Muhammad Yamin, Sidartawan Soegondo
{"title":"Chronic complications risk among type 2 diabetes patients with a family history of diabetes","authors":"Dicky L. Tahapary, Syahidatul Wafa, Christian Tricaesario, Felix F. Widjaja, Jimmy Tandradynata, Rudy Kurniawan, William Djauhari, Afif H. Maruf, Muhammad Yamin, Sidartawan Soegondo","doi":"10.1002/cdt3.80","DOIUrl":"10.1002/cdt3.80","url":null,"abstract":"<p>Family history of diabetes (FH+) has been associated with early metabolic alteration including insulin resistance, lipid metabolism, and ectopic fat accumulation even in healthy individuals.<span><sup>1-3</sup></span> Furthermore, normoglycemic first-degree relatives of type 2 diabetes mellitus (T2DM) have been documented having increased carotid intima-media thickness and pro-inflammatory cytokines.<span><sup>4, 5</sup></span> Taken together, individuals with FH+, who were otherwise healthy, have shown to possess susceptibility for diabetes mellitus (DM) chronic complication. Hence, this study aimed to investigate whether FH+ increased the risk of chronic complications in patients with overt T2DM.</p><p>This was a cross-sectional study which included adult patients with T2DM visiting a private hospital integrated diabetes center in South Tangerang (urban area outskirt of Jakarta), Indonesia from December 2020 to November 2021. Those without any documented blood test results were excluded. FH+ was defined as having first- and/or second-degree relatives with T2DM. Chronic complications investigated were atherosclerotic cardiovascular diseases (ASCVD) including coronary artery disease (CAD), stroke, and peripheral artery disease; microvascular complications including diabetic retinopathy, diabetic peripheral neuropathy, and diabetic kidney disease (DKD); diastolic dysfunction and heart failure (HF). Data were taken from hospital electronic medical records and were explored from clinical signs and symptoms, history of previously known chronic complications, laboratory and radiological examinations, and diagnosis made by the physicians. Additionally, if any, other tests were used for diagnosis such as treadmill stress test and coronary arteries calcium scoring for CAD; ankle-to-brachial index of ≤0.9 and limb vessels stenosis of ≥50% on doppler ultrasound for peripheral artery disease; non-mydriatic funduscopy for retinopathy; 10 g monofilament test and 128 Hz tuning fork test for neuropathy; presence of micro-/macroalbuminuria or proteinuria and glomerular filtration rate ≤60 mL/min for DKD; echocardiography for diastolic dysfunction and HF.</p><p>Results were presented in <i>n</i> (%), and median (interquartile range, IQR) depends on data type. Chi-squared test was used to compare nominal data, while Mann–Whitney was used to compare numerical data. Logistic regression analysis was used to determine FH+ association with chronic complications adjusted for age, sex, DM duration, alcohol and smoking history, systolic and diastolic blood pressure, body mass index, HbA1c, low-density lipoprotein, triglyceride, and estimated glomerular filtration rate, with no family history of diabetes (FH−) as the reference.</p><p>A total of 1011 T2DM patients were included, 24.8% of whom had family history of T2DM (FH+) (Table 1). There were higher proportions of dyslipidemia, smoking and alcohol history found in FH+, whereas FH− had older age, higher systolic blood","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"336-340"},"PeriodicalIF":0.0,"publicationDate":"2023-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42482963","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}
Juan Du, Xuelai Liu, Carol Wing Yan Wong, Kenneth Kak Yuen Wong, Zhixin Yuan
{"title":"Direct cellular reprogramming and transdifferentiation of fibroblasts on wound healing—Fantasy or reality?","authors":"Juan Du, Xuelai Liu, Carol Wing Yan Wong, Kenneth Kak Yuen Wong, Zhixin Yuan","doi":"10.1002/cdt3.77","DOIUrl":"10.1002/cdt3.77","url":null,"abstract":"<p>Induced pluripotent stem cell (iPSC) technology is one of the de novo approaches in regeneration medicine and has led to new research applications for wound healing in recent years. Fibroblasts have attracted wide attention as the first cell line used for differentiation into iPSCs. Researchers have found that fibroblasts can be induced into different types of cells in variable mediums or microenvironments. This indicates the potential “stem” characteristics of fibroblasts in terms of direct cellular reprogramming compared with the iPSC detour. In this review, we described the morphology and biological function of fibroblasts. The stem cell characteristics and activities of fibroblasts, including transdifferentiation into myofibroblasts, osteogenic cells, chondrogenic cells, neurons, and vascular tissue, are discussed. The biological values of fibroblasts are then briefly reviewed. Finally, we discussed the potential applications of fibroblasts in clinical practice.</p>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 3","pages":"191-199"},"PeriodicalIF":0.0,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e5/57/CDT3-9-191.PMC10497843.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10271451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association of blood pressure variability with target organ damage in older patients with essential hypertension","authors":"Zhiquan Jing, Gang Wang, Zeya Li, Shanshan Wu, Xiang Qiu, Rongchong Huang","doi":"10.1002/cdt3.73","DOIUrl":"10.1002/cdt3.73","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Although multiple measures of blood pressure variability (BPV) have been proposed, whether they are better than mean blood pressure in predicting target organs is unclear. We aimed to determine the relationship between short term BPV and target organ injury.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study was a retrospective study, and 635 inpatients in the Department of Cardiology from 2015 to 2020 were selected. We divided participants into four groups on the basis of the quartiles of BPV. One-way analysis of variance was used to compare the differences between the groups, and linear regression was used to analyze the relationship between BPV and target organ damage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The average age of 635 patients was 74.36 ± 6.50 years old. Among them, 354 of 627 patients had diminished renal function (56.5%), 221of 604 patients had associated left ventricular hypertrophy (36.6%), and 227 of 231 patients had carotid plaque formation (98.3%). The baseline data indicated significant differences in fasting glucose, total cholesterol, low-density lipoprotein, creatinine, glomerular filtration rate, sex, calcium channel blocker use, and the rate of diminished renal function. Multiple linear regression analysis showed that BPV was negatively correlated with renal injury (creatinine: <i>r</i> = 0.306, <i>p</i> < 0.01; estimated glomerular filtration rate: <i>r</i> = 0.058, <i>p</i> < 0.01), and BPV is positively correlated with cardiac injury (<i>r</i> = 0.083, <i>p</i> < 0.01). Elevated BPV was not found to be associated with vascular injury.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Renal function decreases with increasing BPV and left ventricular mass increases with increasing BPV.</p>\u0000 </section>\u0000 </div>","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 4","pages":"320-328"},"PeriodicalIF":0.0,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45686830","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":"Amyloid goiter secondary to familial Mediterranean fever with E148Q mutation: A unique case","authors":"Juan C. A. Moreno, Eduardo Eyzaguirre, Suimin Qiu","doi":"10.1002/cdt3.79","DOIUrl":"10.1002/cdt3.79","url":null,"abstract":"<p>Dear Editor,</p><p>Goiter is defined as the enlargement of the thyroid gland. It is currently divided into diffuse and nodular and subdivided into toxic (associated with hyperthyroidism) or nontoxic (associated with normal thyroid stimulating hormone [TSH] levels).<span><sup>1</sup></span> The most common cause of goiter is iodine deficiency,<span><sup>2</sup></span> and other causes are increased levels of TSH, natural goitrogens, iron and vitamin A deficiency, genetic factors (<i>DICER1</i> syndrome and <i>PTEN</i> hamartoma tumor syndrome), and hereditary (Plummer syndrome) factors.<span><sup>3</sup></span></p><p>A rare entity known as familial Mediterranean fever (FMF) can present with amyloid goiter. This is an autoimmune disorder that affects the Mediterranean littoral.<span><sup>4</sup></span> These patients present with fevers and abdominal and chest pain. This condition can produce fibrillar depositions of amyloid protein, usually affecting the kidney<span><sup>5</sup></span> but rarely involving the thyroid. We present a case of a 21-year-old woman with no medical history who presented to our hospital with a nontoxic diffuse goiter with initial presentation and pathologically confirmed as amyloid deposition secondary to FMF.</p><p>The patient is a 21-year-old Asian American woman with no significant medical history. She presented to our institution with dyspnea and dysphagia. An ultrasound from an outside hospital revealed diffuse thyroid enlargement. Our in-house laboratory results showed normal TSH, T4, T3, and elevated TPO antibody and erythrocyte sedimentation rate. A CT scan was performed on the patient showing heterogenous thyromegaly wrapping around the trachea and esophagus (Figure 1). A fine needle aspirate was performed, which showed a fibroinflammatory lesion. The patient started on steroids with no improvement, and a total thyroidectomy was performed. Macroscopic examination revealed a poorly defined, firm mass with pale tan areas of discoloration (Figure 2). Microscopic examination revealed an atrophic thyroid parenchyma with diffuse adipose cell metaplasia and diffuse interfollicular deposition of acellular amorphous material consistent with amyloid (Figure 3). Multifocal areas of chronic inflammation were also seen. Congo red stain was positive for amyloid (Figure 4A) with apple-green birefringence under polarized light (Figure 4B). Liquid chromatography tandem mass spectrometry was performed on peptides extracted from the Congo red-positive/microdissected areas of the paraffin-embedded thyroid specimen. The detected peptide profile was consistent with AA (SAA)-type amyloid deposition. The patient consequently had genetic testing showing a homozygous E148Q mutation. This confirms the clinical syndrome of FMF. After continuous follow-up, 10 years later, she developed end-stage renal failure with a renal biopsy confirming Renal AA amyloidosis. Since then, she has been on hemodialysis and is now on the waiting list for a ","PeriodicalId":32096,"journal":{"name":"Chronic Diseases and Translational Medicine","volume":"9 3","pages":"266-268"},"PeriodicalIF":0.0,"publicationDate":"2023-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/37/d6/CDT3-9-266.PMC10497809.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10272900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}