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https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#1
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28440737/heart-rate-variability-depression-in-porcine-peritonitis-induced-sepsis-without-organ-failure
#2
Dagmar Jarkovska, Lenka Valesova, Jiri Chvojka, Jan Benes, Vojtech Danihel, Jitka Sviglerova, Lukas Nalos, Martin Matejovic, Milan Stengl
Depression of heart-rate variability (HRV) in conditions of systemic inflammation has been shown in both patients and experimental animal models and HRV has been suggested as an early indicator of sepsis. The sensitivity of HRV-derived parameters to the severity of sepsis, however, remains unclear. In this study we modified the clinically relevant porcine model of peritonitis-induced sepsis in order to avoid the development of organ failure and to test the sensitivity of HRV to such non-severe conditions. In 11 anesthetized, mechanically ventilated and instrumented domestic pigs of both sexes, sepsis was induced by fecal peritonitis...
May 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28440714/hypereosinophilic-syndrome-endomyocardial-biopsy-versus-echocardiography-to-diagnose-cardiac-involvement
#3
Joseph H Butterfield, Garvan C Kane, Catherine R Weiler
OBJECTIVE: To compare echocardiograms and endomyocardial biopsies to diagnose cardiac involvement in hypereosinophilic syndrome. METHODS: We examined the agreement between echocardiography and endomyocardial biopsies to detect cardiac involvement in hypereosinophilic syndrome by reviewing cases identified as hypereosinophilia or hypereosinophilic syndrome in Mayo Clinic databases from January 1978 through June 2009. Single-organ cases of eosinophilia such as eosinophilic fasciitis and eosinophilic gastroenteritis were excluded...
April 25, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28438721/clinical-profile-and-mutation-spectrum-of-long-qt-syndrome-in-saudi-arabia-the-impact-of-consanguinity
#4
Zuhair N Al-Hassnan, Majid Al-Fayyadh, Bander Al-Ghamdi, Azam Shafquat, Yaseen Mallawi, Faten Al-Hadeq, Sahar Tulbah, Zarghuna Ma Shinwari, Abdulrahman Almesned, Ali Alakhfash, Fadel Al Fadly, Ahmed S Hersi, Abdullah Alhayani, Amal Al-Hashem, Dia Arafah, Nduna Dzimiri, Brian Meyer, Monther Rababh, Waleed Al-Manea
BACKGROUND: Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70% with KCNQ1 mutations accounting for ∼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. OBJECTIVES: We aim to describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population...
April 21, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28438326/transapical-transcatheter-aortic-valve-implantation-using-the-j-valve-system-a-1-year-follow-up-study
#5
Xiang Luo, Xu Wang, Xuan Li, Xin Wang, Fei Xu, Mingzheng Liu, Bing Yu, Fei Li, Minghui Tong, Wei Wang
OBJECTIVE: Transcatheter aortic valve implantation has become a routine procedure to treat screened inoperable or high-risk patients. In this study, we present the first outcome of echocardiographic midterm using a new second-generation transcatheter aortic valve implantation system, the J-Valve system (Jie Cheng Medical Technologies, Suzhou, China), in patients with aortic stenosis or aortic regurgitation. METHODS: From July 2014 to June 2015, 21 patients with isolated aortic valve disease at high risk for open surgery received transapical transcatheter aortic valve implantation using the J-Valve system...
March 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28438309/association-of-albuminuria-with-cardiac-dysfunction-in-us-hispanics-latinos
#6
David B Hanna, Shuo Xu, Michal L Melamed, Franklyn Gonzalez, Matthew A Allison, Martin S Bilsker, Barry E Hurwitz, Mayank M Kansal, Neil Schneiderman, Sanjiv J Shah, Robert C Kaplan, Carlos J Rodriguez, Jorge R Kizer
Higher urine albumin-to-creatinine ratio (UACR) has been associated with cardiac dysfunction in the general population. We assessed the association of UACR with cardiac structure and function in the Echocardiographic Study of Latinos (Echo-SOL), an ancillary study of the Hispanic Community Health Study/Study of Latinos across 4 US sites. Echo-SOL participants underwent standard 2-dimensional echocardiography, including speckle-tracking strain analysis. UACR was categorized as normal and high-normal (based on the midpoint of values below microalbuminuria), microalbuminuria (≥17 mg/g for men; ≥25 mg/g for women), and macroalbuminuria (≥250 mg/g; ≥355 mg/g)...
March 29, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28437443/relative-predictive-value-of-lung-cancer-screening-ct-versus-myocardial-perfusion-attenuation-correction-ct-in-the-evaluation-of-coronary-calcium
#7
Grant Bailey, Abigail Healy, Bryan D Young, Esseim Sharma, Judith Meadows, Hyung J Chun, Wen-Chih Wu, Gaurav Choudhary, Alan R Morrison
Coronary artery calcium scores (CACS) from lung cancer screening computed tomography (LCSCT) or myocardial perfusion attenuation correction computed tomography (ACCT) are not routinely performed or reported. CACS from LCSCT and ACCT have not been directly compared in the same patient population. We identified 66 patients who underwent both LCSCT (non-gated) and ECG-gated cardiac CT (CCT) within a 2-year span. Of this population, 40 subjects had also undergone ACCT. Using the Agatston method, CACS for 264 individual vessels from the LCSCT population and for 160 vessels from ACCT population were calculated and evaluated for agreement with ECG-gated CCT as the gold standard...
2017: PloS One
https://www.readbyqxmd.com/read/28436679/cited2-mutations-in-conserved-regions-contribute-to-conotruncal-heart-defects-in-chinese-children
#8
Bojian Li, Tian Pu, Yang Liu, Yuejuan Xu, Rang Xu
Conotruncal heart defects (CTDs) are severe malformations of outflow tract with heterogeneous morphology. Several missense variants of CITED2 have been identified to cause CTDs in recent researches. In this study, we screened the coding regions of CITED2 in 605 Chinese children with CTDs and found two possible pathogenic mutant sites: p.Q117L and p.T257A, both located in the conserved regions of CITED2. Then, we investigated the biological and functional alterations of them. Western blotting showed low level of protein expression of mutant Q117 and T257A compared with wild-type CITED2...
April 24, 2017: DNA and Cell Biology
https://www.readbyqxmd.com/read/28436133/population-trends-in-prenatal-detection-of-transposition-of-great-arteries-impact-of-obstetrical-screening-ultrasound-guidelines
#9
Ravi Prasad, Mills Lindsay, Fruitman Deborah, Savard Winnie, Colen Timothy, Khoo Nee, Serrano-Lomelin Jesus, Hornberger Lisa K
BACKGROUND: D-transposition of the great arteries (D-TGA) is one of the most common critical neonatal heart defects. Although there are clinical advantages to a prenatal diagnosis, D-TGA has had low prenatal detection internationally. Recent obstetrical ultrasound guidelines incorporating screening of cardiac outflows may improve prenatal detection of D-TGA. We sought to evaluate trends in the prenatal detection of D-TGA with/without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of enhanced ultrasound guidelines in 2009-2010 and 2013 and factors impacting detection...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28434921/identification-of-a-novel-and-functional-mutation-in-the-tbx5-gene-in-a-patient-by-screening-from-354-patients-with-isolated-ventricular-septal-defect
#10
Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He
Ventricular septal defect (VSD) is the most frequently occurring congenital heart disease (CHD) in newborns. A number of genetic studies have linked TBX5 mutations to cardiac abnormalities. We aimed to identify potential pathogenic mutations in TBX5 and to provide insights into the etiology of sporadic and isolated VSD. Case-control mutational and functional analyses were performed in 354 sporadic patients with isolated VSD and 341 controls. All the coding exons and intron-exon boundaries of TBX5 were first sequenced in a group of VSD patients and controls...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28434267/amyloid-in-bone-marrow-smears-in-systemic-light-chain-amyloidosis
#11
Christoph Kimmich, Stefan Schönland, Sandra Kräker, Mindaugas Andrulis, Anthony D Ho, Gudrun Mayer, Tobias Dittrich, Michael Hundemer, Ute Hegenbart
We performed a prospective sensitivity analysis to detect amyloid in bone marrow (BM) smears stained with Congo red (CR) and according to Pappenheim of patients with systemic light-chain (AL) amyloidosis. Results were directly compared to routine BM histology and fat aspiration. We analysed 198 BM smears from patients with the diagnosis or suspicion of systemic AL amyloidosis. Ultimately, the diagnosis could be established for 168 patients. Amyloid was detected on BM smears with CR in 33% (56/168). All patients suspicious for amyloid on Pappenheim staining (n = 39) showed substantial amyloid infiltration on CR...
April 23, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28431420/generative-retrieval-improves-learning-and-retention-of-cardiac-anatomy-using-transesophageal-echocardiography
#12
Amanda M Kleiman, Katherine T Forkin, Allison J Bechtel, Stephen R Collins, Jennie Z Ma, Edward C Nemergut, Julie L Huffmyer
BACKGROUND: Transesophageal echocardiography (TEE) is a valuable monitor for patients undergoing cardiac and noncardiac surgery as it allows for evaluation of cardiovascular compromise in the perioperative period. It is challenging for anesthesiology residents and medical students to learn to use and interpret TEE in the clinical environment. A critical component of learning to use and interpret TEE is a strong grasp of normal cardiovascular ultrasound anatomy. METHODS: Fifteen fourth-year medical students and 15 post-graduate year (PGY) 1 and 2 anesthesiology residents without prior training in cardiac anesthesia or TEE viewed normal cardiovascular anatomy TEE video clips; participants were randomized to learning cardiac anatomy in generative retrieval (GR) and standard practice (SP) groups...
May 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#13
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28429185/high-content-assessment-of-cardiac-function-using-heart-on-a-chip-devices-as-drug-screening-model
#14
Genevieve Conant, Benjamin Fook Lun Lai, Rick Xing Ze Lu, Anastasia Korolj, Erika Yan Wang, Milica Radisic
Drug discovery and development continues to be a challenge to the pharmaceutical industry despite great advances in cell and molecular biology that allow for the design of better targeted therapeutics. Many potential drug compounds fail during the clinical trial due to inefficacy and toxicity that were not predicted during preclinical stages. The fundamental problem lies with the use of traditional drug screening models that still largely rely on the use of cell lines or animal cell monolayers, which leads to lack of predictive power of human tissue and organ response to the drug candidates...
April 20, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28427417/novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#15
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical assessments. DNAs were extracted from peripheral blood leukocytes for genetic screening with next generation method...
April 20, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28426464/comparative-effectiveness-in-urology-a-state-of-the-art-review-utilizing-a-systematic-approach
#16
Jathin Bandari, Charles B Wessel, Bruce L Jacobs
PURPOSE OF REVIEW: Comparative effectiveness research plays a vital role in healthcare delivery by guiding evidence-based practices. We performed a state-of-the-art review of comparative effectiveness research in the urology literature for 2016, utilizing a systematic approach. Seven high-impact papers are reviewed in detail. RECENT FINDINGS: Across the breadth of urology, there were several important studies in comparative effectiveness research, of which we will highlight two randomized controlled trials and five observational trials: radiotherapy, prostatectomy, and active monitoring have equivalent mortality outcomes in patients with localized prostate cancer; the ideal modality of patient education is yet to be determined, and written education has minimal effect on patient perception of prostate specific antigen screening; robotic prostatectomy is associated with higher perioperative complication rates on a population basis; racial disparities exist in incontinence rates after treatment for localized prostate cancer, but not in irritative, bowel, or sexual function; androgen deprivation therapy is associated with higher fracture, peripheral artery disease, and cardiac-related complications than bilateral orchiectomy; robotic and open cystectomy offer comparable cancer-specific mortality and perioperative outcomes; and bonuses for low-cost hospitals can inadvertently reward low-quality hospitals...
April 19, 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28423752/a-decision-support-system-for-cardiac-disease-diagnosis-based-on-machine-learning-methods
#17
Arash Gharehbaghi, Maria Lindén, Ankica Babic
This paper proposes a decision support system for screening pediatric cardiac disease in primary healthcare centres relying on the heart sound time series analysis. The proposed system employs our processing method which is based on the hidden Markov model for extracting appropriate information from the time series. The binary output resulting from the method is discriminative for the two classes of time series existing in our databank, corresponding to the children with heart disease and the healthy ones. A total 90 children referrals to a university hospital, constituting of 55 healthy and 35 children with congenital heart disease, were enrolled into the study after obtaining the informed consent...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28422774/squamous-cellular-carcinoma-antigen-serum-determination-as-a-biomarker-of-barrett-esophagus-and-esophageal-cancer-a-phase-iii-study
#18
Gemma Maddalo, Matteo Fassan, Romilda Cardin, Marika Piciocchi, Filippo Marafatto, Massimo Rugge, Giovanni Zaninotto, Caterina Pozzan, Carlo Castoro, Alberto Ruol, Alessandra Biasiolo, Fabio Farinati
GOAL: To evaluate the potential role of the determination of the immunocomplexed form of squamous cell carcinoma antigen [SCCA-immunoglobulin (Ig)M] for the screening of Barrett esophagus (BE) and esophageal adenocarcinoma (EAC). BACKGROUND: The cost-effectiveness of surveillance in BE is still debated and the use of biomarkers in screening and surveillance still not recommended. No information is available regarding SCCA-IgM determination in BE. STUDY: SCCA-IgM levels were determined (enzyme-linked immunosorbent assay) in 231 patients prospectively recruited, 71 with BE, 53 with EAC, and 107 controls, including 42 blood donors and 65 patients with gastroesophageal reflux...
April 18, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28421838/self-reported-cocaine-use-is-not-associated-with-elevations-in-high-sensitivity-troponin-i
#19
Candice D Jordan, Frederick K Korley, Andrew I Stolbach
OBJECTIVE: High-sensitivity troponin (hsTn) assays detect 10 times lower concentrations of cardiac troponin than conventional assays. We examined the effects of self-reported cocaine use to determine whether those with acute cocaine use being evaluated for ACS are more likely to have elevated hsTnI than those nonusers being evaluated for ACS. METHODS: We conducted a sub-analysis of a prospective cohort of ED patients evaluated for acute coronary syndrome. Recent cocaine use was determined by structured patient interviews...
June 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28421812/the-frequency-of-incidental-findings-and-subsequent-evaluation-in-low-dose-ct-scans-for-lung-cancer-screening
#20
Lillie Morgan, Humberto Choi, Michal Reid, Ali Khawaja, Peter J Mazzone
RATIONALE: The USPSTF recommends lung cancer screening with low-dose chest CT scans (LDCT) for a well-defined high-risk population. Data on the frequency and impact of incidental findings on LDCT scans performed within a centralized lung cancer screening program has not been reported. OBJECTIVES: Previous studies have reported IFs in the setting of clinical trials. We present our findings in a real clinical setting where the decision to manage these findings may depend on factors that are not captured in a research trial such as disclosing IFs, patient preferences, severity of comorbidities, and physician expertise...
April 19, 2017: Annals of the American Thoracic Society
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