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Expert Comment: Is Medication Titration in Heart Failure too Complex?

Wed, 08/09/2017 - 12:45
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Expert Comment: Is Medication Titration in Heart Failure too Complex?

Card Fail Rev. 2017 Apr;3(1):25-32

Authors: Atherton JJ, Hickey A

Abstract
Large-scale randomised controlled trials (RCTs) have demonstrated that angiotensin-converting enzyme inhibitors, angiotensin receptor blockers and beta-blockers decrease mortality and hospitalisation in patients with heart failure (HF) associated with a reduced left ventricular ejection fraction. This has led to high prescription rates; however, these drugs are generally prescribed at much lower doses than the doses achieved in the RCTs. A number of strategies have been evaluated to improve medication titration in HF, including forced medication up-titration protocols, point-of-care decision support and extended scope of clinical practice for nurses and pharmacists. Most successful strategies have been multifaceted and have adapted existing multidisciplinary models of care. Furthermore, given the central role of general practitioners in long-term monitoring and care coordination in HF patients, these strategies should engage with primary care to facilitate the transition between the acute and primary healthcare sectors.

PMID: 28785472 [PubMed]

Chagas Heart Failure in Patients from Latin America.

Wed, 08/09/2017 - 12:45
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Chagas Heart Failure in Patients from Latin America.

Card Fail Rev. 2016 Nov;2(2):90-94

Authors: Bestetti RB

Abstract
Physicians working in Europe and the United States should suspect Chagas heart failure in every patient coming from Latin America with chronic heart failure. Diagnosis should be confirmed by positive serology. Right bundle branch block and left anterior fascicular block on 12-lead electrocardiogram, enlarged cardiac silhouette with no pulmonary congestion on chest X-ray and left ventricular apical aneurysm on echocardiography are the distinctive features of this condition. The clinical course is poorer than that of non-Chagas heart failure; however, medical treatment is similar. Implantable cardioverter-defibrillators are useful in the primary and secondary prevention of sudden cardiac death. Cardiac resynchronisation therapy can be given to patients on optimal medical therapy and with lengthened QRS complex. Heart transplantation is the treatment of choice for patients with end-stage Chagas heart failure.

PMID: 28785459 [PubMed]

Erratum to: Antimicrobials: a global alliance for optimizing their rational use in intra-abdominal infections (AGORA).

Wed, 08/09/2017 - 12:45
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Erratum to: Antimicrobials: a global alliance for optimizing their rational use in intra-abdominal infections (AGORA).

World J Emerg Surg. 2017;12:35

Authors: Sartelli M, Weber DG, Ruppé E, Bassetti M, Wright BJ, Ansaloni L, Catena F, Coccolini F, Abu-Zidan FM, Coimbra R, Moore EE, Moore FA, Maier RV, De Waele JJ, Kirkpatrick AW, Griffiths EA, Eckmann C, Brink AJ, Mazuski JE, May AK, Sawyer RG, Mertz D, Montravers P, Kumar A, Roberts JA, Vincent JL, Watkins RR, Lowman W, Spellberg B, Abbott IJ, Adesunkanmi AK, Al-Dahir S, Al-Hasan MN, Agresta F, Althani AA, Ansari S, Ansumana R, Augustin G, Bala M, Balogh ZJ, Baraket O, Bhangu A, Beltrán MA, Bernhard M, Biffl WL, Boermeester MA, Brecher SM, Cherry-Bukowiec JR, Buyne OR, Cainzos MA, Cairns KA, Camacho-Ortiz A, Chandy SJ, Che Jusoh A, Chichom-Mefire A, Colijn C, Corcione F, Cui Y, Curcio D, Delibegovic S, Demetrashvili Z, De Simone B, Dhingra S, Diaz JJ, Di Carlo I, Dillip A, Di Saverio S, Doyle MP, Dorj G, Dogjani A, Dupont H, Eachempati SR, Enani MA, Egiev VN, Elmangory MM, Ferrada P, Fitchett JR, Fraga GP, Guessennd N, Giamarellou H, Ghnnam W, Gkiokas G, Goldberg SR, Gomes CA, Gomi H, Guzmán-Blanco M, Haque M, Hansen S, Hecker A, Heizmann WR, Herzog T, Hodonou AM, Hong SK, Kafka-Ritsch R, Kaplan LJ, Kapoor G, Karamarkovic A, Kees MG, Kenig J, Kiguba R, Kim PK, Kluger Y, Khokha V, Koike K, Kok KY, Kong V, Knox MC, Inaba K, Isik A, Iskandar K, Ivatury RR, Labbate M, Labricciosa FM, Laterre PF, Latifi R, Lee JG, Lee YR, Leone M, Leppaniemi A, Li Y, Liang SY, Loho T, Maegele M, Malama S, Marei HE, Martin-Loeches I, Marwah S, Massele A, McFarlane M, Melo RB, Negoi I, Nicolau DP, Nord CE, Ofori-Asenso R, Omari AH, Ordonez CA, Ouadii M, Pereira Júnior GA, Piazza D, Pupelis G, Rawson TM, Rems M, Rizoli S, Rocha C, Sakakushev B, Sanchez-Garcia M, Sato N, Segovia Lohse HA, Sganga G, Siribumrungwong B, Shelat VG, Soreide K, Soto R, Talving P, Tilsed JV, Timsit JF, Trueba G, Trung NT, Ulrych J, van Goor H, Vereczkei A, Vohra RS, Wani I, Uhl W, Xiao Y, Yuan KC, Zachariah SK, Zahar JR, Zakrison TL, Corcione A, Melotti RM, Viscoli C, Viale P

Abstract
[This corrects the article DOI: 10.1186/s13017-016-0089-y.].

PMID: 28785301 [PubMed - in process]

Missed opportunity for anticoagulation in a patient with AL cardiac amyloidosis and rapidly progressive heart failure.

Wed, 08/09/2017 - 12:45
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Missed opportunity for anticoagulation in a patient with AL cardiac amyloidosis and rapidly progressive heart failure.

BMJ Case Rep. 2017 Aug 07;2017:

Authors: Avula SR, Handa R, Balakrishnan B, Girard S

Abstract
A previously healthy 65-year-old woman presented with progressive symptoms of heart failure. Low-voltage ECG and findings on echocardiography were concerning for infiltrative cardiomyopathy. Cardiac MRI showed biventricular late gadolinium enhancement, and endomyocardial biopsy confirmed monoclonal immunoglobulin light-chain (AL) amyloidosis. Bortezomib-based chemotherapy was initiated, but the patient continued to clinically deteriorate. She required hospital readmission after resuscitated out-of-hospital cardiac arrest attributed to progressive conduction disease, and a permanent pacemaker was implanted. Chest CT angiography showed a small subsegmental pulmonary embolism (PE), but anticoagulation was withheld as her lower extremity Doppler was negative. One month later, another pulseless electrical arrest occurred, due to massive PE. Thereafter, she had refractory class IV congestive heart failure with severe right ventricular dysfunction, and was deemed unsuitable for stem-cell or heart transplantation. This case highlights the predilection for thromboembolism in AL cardiac amyloidosis.

PMID: 28784887 [PubMed - in process]

Glucose Homeostasis, Pancreatic Endocrine Function, and Outcomes in Advanced Heart Failure.

Wed, 08/09/2017 - 12:45
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Glucose Homeostasis, Pancreatic Endocrine Function, and Outcomes in Advanced Heart Failure.

J Am Heart Assoc. 2017 Aug 07;6(8):

Authors: Melenovsky V, Benes J, Franekova J, Kovar J, Borlaug BA, Segetova M, Tura A, Pelikanova T

Abstract
BACKGROUND: The mechanisms and relevance of impaired glucose homeostasis in advanced heart failure (HF) are poorly understood. The study goals were to examine glucose regulation, pancreatic endocrine function, and metabolic factors related to prognosis in patients with nondiabetic advanced HF.
METHODS AND RESULTS: In total, 140 advanced HF patients without known diabetes mellitus and 21 sex-, age-, and body mass index-matched controls underwent body composition assessment, oral glucose tolerance testing, and measurement of glucose-regulating hormones to model pancreatic β-cell secretory response. Compared with controls, HF patients had similar fasting glucose and insulin levels but higher levels after oral glucose tolerance testing. Insulin secretion was not impaired, but with increasing HF severity, there was a reduction in glucose, insulin, and insulin/glucagon ratio-a signature of starvation. The insulin/C-peptide ratio was decreased in HF, indicating enhanced insulin clearance, and this was correlated with lower cardiac output, hepatic insufficiency, right ventricular dysfunction, and body wasting. After a median of 449 days, 41% of patients experienced an adverse event (death, urgent transplant, or assist device). Increased glucagon and, paradoxically, low fasting plasma glucose displayed the strongest relations to outcome (P=0.01). Patients in the lowest quartile of fasting plasma glucose (3.8-5.1 mmol·L(-1), 68-101 mg·dL(-1)) had 3-times higher event risk than in the top quartile (6.0-7.9 mmol·L(-1), 108-142 mg·dL(-1); relative risk: 3.05 [95% confidence interval, 1.46-6.77]; P=0.002).
CONCLUSIONS: Low fasting plasma glucose and increased glucagon are robust metabolic predictors of adverse events in advanced HF. Pancreatic insulin secretion is preserved in advanced HF, but levels decrease with increasing HF severity due to enhanced insulin clearance that is coupled with right heart failure and cardiac cachexia.

PMID: 28784650 [PubMed - in process]

Piperacillin-induced Thrombocytopenia in a Dual Heart and Kidney Transplant Patient: A Case Report.

Wed, 08/09/2017 - 12:45
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Piperacillin-induced Thrombocytopenia in a Dual Heart and Kidney Transplant Patient: A Case Report.

Transplant Proc. 2017 Aug 04;:

Authors: Patel S, Levin-Epstein R, Kobashigawa J

Abstract
BACKGROUND: The present study reports a case of piperacillin-induced thrombocytopenia in a dual heart and kidney transplant patient on January 28, 2016 (taking mycophenolate mofetil and tacrolimus). Before the transplant, the patient was treated with Zosyn twice, with no reports of thrombocytopenia or allergy. However, he was diagnosed with heparin-induced thrombocytopenia and vancomycin allergy during each of those hospitalizations, respectively. Eight months after the transplant, the patient presented with infectious symptoms and was started on Zosyn.
RESULTS: One day after starting Zosyn, the patient experienced a drop in platelet count from 6,000/μL from 216,000/μL. Platelets decreased as low as 1 on day 3 of hospitalization. Administration of mycophenolate mofetil, tacrolimus, Bactrim, vancomycin, Zosyn, ranitidine, and Rivaroxaban were discontinued. Platelet counts stabilized the day after Zosyn was discontinued and slowly increased after the patient was treated with 2 doses of intravenous immunoglobulin, 4 units of platelets, and a tapered dose of prednisone.
CONCLUSIONS: The patient was initially diagnosed with vancomycin-induced thrombocytopenia but then tested positive for antibodies to piperacillin and negative for antibodies to vancomycin and tazobactam. The patient was discharged with a diagnosis of piperacillin-induced thrombocytopenia. This case report presents a case of piperacillin-induced thrombocytopenia, previously misdiagnosed as vancomycin-induced thrombocytopenia and heparin-induced thrombocytopenia.

PMID: 28784558 [PubMed - as supplied by publisher]

Catheter ablation of organized atrial arrhythmias in orthotopic heart transplantation.

Wed, 08/09/2017 - 12:45
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Catheter ablation of organized atrial arrhythmias in orthotopic heart transplantation.

J Heart Lung Transplant. 2017 Jul 21;:

Authors: Mouhoub Y, Laredo M, Varnous S, Leprince P, Waintraub X, Gandjbakhch E, Hébert JL, Frank R, Maupain C, Pavie A, Hidden-Lucet F, Duthoit G

Abstract
BACKGROUND: Organized atrial arrhythmias (OAAs) are common after orthotopic heart transplantation (OHT). Some controversies remain about their clinical presentation, relationship with atrial anastomosis and electrophysiologic features. The objectives of this retrospective study were to determine the mechanisms of OAAs after OHT and describe the outcomes of radiofrequency catheter ablation (RFCA).
METHODS: Thirty consecutive transplanted patients (mean age 48 ± 17 years, 86.6% male) underwent 3-dimensional electroanatomic mapping and RFCA of their OAA from 2004 to 2012 at our center.
RESULTS: Twenty-two patients had biatrial anastomosis and 8 had bicaval anastomosis. Macro-reentry was the arrhythmia mechanism for 96% of patients. The electrophysiologic diagnoses were: cavotricuspid isthmus (CTI)-dependent atrial flutter (AFL) in 93% of patients (n = 28); perimitral AFL in 3% (n = 1); and focal atrial tachycardia (FAT) in 3% (n = 1). In 5 patients with biatrial anastomosis, a right FAT was inducible. Primary RFCA success was obtained in 93% of patients. Mean follow-up time was 39 ± 26.8 months. Electrical repermeation between recipient and donor atria, present in 20% of patients (n = 6), did not account for any of the OAAs observed. Survival without OAA relapse at 12, 24 and 60 months was 93%, 89% and 79%, respectively.
CONCLUSIONS: CTI-dependent AFL accounted for most instances of OAA after OHT, regardless of anastomosis type. Time from transplantation to OAA was shorter with bicaval than with biatrial anastomosis. RFCA was safe and provided good long-term results.

PMID: 28784326 [PubMed - as supplied by publisher]

Report of the ISHLT Working Group on primary lung graft dysfunction Part IV: Prevention and treatment: A 2016 Consensus Group statement of the International Society for Heart and Lung Transplantation.

Wed, 08/09/2017 - 12:45
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Report of the ISHLT Working Group on primary lung graft dysfunction Part IV: Prevention and treatment: A 2016 Consensus Group statement of the International Society for Heart and Lung Transplantation.

J Heart Lung Transplant. 2017 Jul 21;:

Authors: Van Raemdonck D, Hartwig MG, Hertz MI, Davis RD, Cypel M, Hayes D, Ivulich S, Kukreja J, Lease ED, Loor G, Mercier O, Paoletti L, Parmar J, Rampolla R, Wille K, Walia R, Keshavjee S

PMID: 28784325 [PubMed - as supplied by publisher]

The Registry of the International Society for Heart and Lung Transplantation: Thirty-fourth Adult Lung And Heart-Lung Transplantation Report-2017; Focus Theme: Allograft ischemic time.

Wed, 08/09/2017 - 12:45
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The Registry of the International Society for Heart and Lung Transplantation: Thirty-fourth Adult Lung And Heart-Lung Transplantation Report-2017; Focus Theme: Allograft ischemic time.

J Heart Lung Transplant. 2017 Jul 19;:

Authors: Chambers DC, Yusen RD, Cherikh WS, Goldfarb SB, Kucheryavaya AY, Khusch K, Levvey BJ, Lund LH, Meiser B, Rossano JW, Stehlik J, International Society for Heart and Lung Transplantation

PMID: 28784324 [PubMed - as supplied by publisher]

Polymorphisms in genes related to the complement system and antibody-mediated cardiac allograft rejection.

Wed, 08/09/2017 - 12:45
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Polymorphisms in genes related to the complement system and antibody-mediated cardiac allograft rejection.

J Heart Lung Transplant. 2017 Jul 15;:

Authors: Marrón-Liñares GM, Núñez L, Crespo-Leiro MG, Barge-Caballero E, Pombo J, Paniagua-Martin MJ, Suarez-Fuentetaja N, Cid J, Grille-Cancela Z, Muñiz-Garcia J, Tan CD, Rodríguez ER, Vázquez-Rodríguez JM, Hermida-Prieto M

Abstract
BACKGROUND: Heart transplantation (HT) is a life-saving treatment for patients with end-stage heart failure. One of the main problems after HT is the humoral response termed antibody-mediated rejection (AMR). Complement activation plays a key role in AMR contributing to graft damage. The aim of this study was to analyze genetic variants in genes related to the complement pathways that could be associated with the development of AMR.
METHODS: Analysis of 51 genes related to the complement pathway was performed by next-generation sequencing in 46 HT recipients, 23 with and 23 without AMR. Statistical analysis was performed with SNPstats and R.
RESULTS: We identified 2 single nucleotide polymorphisms, 1 in the mannose-binding lectin 2 gene (p.Gly54Asp-MBL2) and 1 in the complement factor properdin gene (p.Asn428(p=)-CFP), that showed significant association with the absence and development of AMR, respectively. Moreover, the presence of the rare allele in p.Gly54Asp-MBL2 control patients correlated with an immunodeficiency of mannose-binding lectin (6.24 ng/ml vs 207.50 ng/ml, p < 0.01), whereas the presence of the rare allele p.Asn428(p=)-CFP in patients with AMR correlated with higher levels of properdin protein (14.65 μg/ml vs 10.77 μg/ml, p < 0.05).
CONCLUSIONS: AMR is a complex phenotype affected by many recipient factors. Variants in p.Gly54Asp-MBL2 and p.Asn428(p=)-CFP genes, encoding mannose-binding lectin 2 and properdin, may influence the risk of AMR.

PMID: 28784323 [PubMed - as supplied by publisher]

Impact of an Age-Adjusted Co-morbidity Index on Survival of Patients With Heart Failure Implanted With Cardiac Resynchronization Therapy Devices.

Wed, 08/09/2017 - 12:45
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Impact of an Age-Adjusted Co-morbidity Index on Survival of Patients With Heart Failure Implanted With Cardiac Resynchronization Therapy Devices.

Am J Cardiol. 2017 Jul 14;:

Authors: Ioannou A, Papageorgiou N, Barber H, Falconer D, Barra S, Babu G, Ahsan S, Rowland E, Hunter R, Lowe M, Schilling R, Lambiase P, Chow A, Providencia R

Abstract
Age is an adverse prognostic factor in patients with heart failure. We aimed to assess the impact of age and noncardiac co-morbidities in the outcome of patients undergoing cardiac resynchronization therapy (CRT), and determine which of these two factors is the most important predictor of survival. The study involved a single-center retrospective assessment of 697 consecutive CRT implants during a 12-year period. Patient co-morbidity profile was assessed using the Charlson Co-morbidity Index (CCI) and the Charlson Age-Co-morbidity Index (CACI). Predictors of survival free from heart transplantation were assessed. CRT-related complications and cause of death analysis were assessed within tertiles of the CACI. During a mean follow-up of 1,813 ± 1,177 days, 347 patients (49.9%) died and 37 (5.3%) underwent heart transplantation. On multivariate Cox regression, female gender (HR = 0.78, 95% confidence interval [CI] 0.62 to 0.99, p = 0.041), estimated glomerular filtration rate (HR per ml/min = 0.99, 95% CI 0.98 to 0.99, p < 0.001), left ventricular ejection fraction (HR per % = 0.99, 95% CI 0.98 to 1.00, p = 0.022), New York Heart Association class (HR = 1.83, 95% CI 1.53 to 2.20, p < 0.001), presence of left bundle branch block (HR = 0.70, 95% CI 0.56 to 0.87, p = 0.001), and CACI tertile (HR = 1.37, 95% CI 1.18 to 1.59, p < 0.001) were independent predictors of all-cause mortality or heart transplantation. Compared with age and the CCI, the CACI was the best discriminator of all-cause mortality. Inappropriate therapies occurred less frequently in higher co-morbidity tertiles. In conclusion, patient co-morbidity profile adjusted to age impacts on mortality after CRT implantation. Use of the CACI may help refine guideline criteria to identify patients more likely to benefit from CRT.

PMID: 28784235 [PubMed - as supplied by publisher]

Anesthesia for Heart Transplantation.

Wed, 08/09/2017 - 12:45
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Anesthesia for Heart Transplantation.

Anesthesiol Clin. 2017 Sep;35(3):453-471

Authors: Ramsingh D, Harvey R, Runyon A, Benggon M

Abstract
This article seeks to evaluate current practices in heart transplantation. The goals of this article were to review current practices for heart transplantation and its anesthesia management. The article reviews current demographics and discusses the current criteria for candidacy for heart transplantation. The process for donor and receipt selection is reviewed. This is followed by a review of mechanical circulatory support devices as they pertain to heart transplantation. The preanesthesia and intraoperative considerations are also discussed. Finally, management after transplantation is also reviewed.

PMID: 28784220 [PubMed - in process]

Coronary artery spasm in a neonate with transposition of great arteries: a rare complication and reason for heart transplant.

Wed, 08/09/2017 - 12:45
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Coronary artery spasm in a neonate with transposition of great arteries: a rare complication and reason for heart transplant.

Cardiol Young. 2017 Aug 08;:1-5

Authors: Bansal N, Delius RE, Aggarwal S

Abstract
Arterial switch operation has become the standard of care for d-transposition of great arteries and has excellent short- and long-term outcomes. We report the case of a newborn with a diagnosis of d-transposition of great arteries with intact ventricular septum and a low-risk coronary artery anatomy who developed coronary artery vasospasm while coming off bypass following arterial switch operation in the operating room. The coronary artery spasm led to severe biventricular dysfunction and need for extracorporeal membranous oxygenation support. Despite extracorporeal membranous oxygenation and inotropic support, there was no improvement in the left ventricular function, and cardiac transplantation was performed after 8 days. The explanted heart showed extensive infarction of both ventricles. Both the coronary ostei were patent with no evidence of thrombus, suggesting coronary artery vasospasm rather than embolus or thrombus formation. This is the first case of coronary artery vasospasm in a neonate with d-transposition of great arteries leading to cardiac transplantation. We speculate that early identification of patients who are at a high risk for coronary vasospasm and prophylactic or timely infusion of papaverine directly into the coronary arteries may be beneficial in this condition.

PMID: 28784194 [PubMed - as supplied by publisher]

PROTECTIVE EFFECT OF Ailanthus excelsa ROXB IN MYOCARDIAL INFARCTION POST MESENCHYMAL STEM CELL TRANSPLANTATION: STUDY IN CHRONIC ISCHEMIC RAT MODEL.

Wed, 08/09/2017 - 12:45
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PROTECTIVE EFFECT OF Ailanthus excelsa ROXB IN MYOCARDIAL INFARCTION POST MESENCHYMAL STEM CELL TRANSPLANTATION: STUDY IN CHRONIC ISCHEMIC RAT MODEL.

Afr J Tradit Complement Altern Med. 2016;13(6):155-162

Authors: Gong X

Abstract
BACKGROUND: Thia study evaluates the effects of Ailanthus excelsa Roxb methanolic extract (AER-ME) in rats induced with Myocardial Infarction (MI) followed by transplantation of MSCs.
MATERIAL AND METHODS: Rats were induced with MI by ligation technique of left coronary artery. The sham-operated the control and AER-ME treated group of rats received transplantation of PKH-26 and marked MSCs followed by normal saline and AER-ME treatment (200mg/kg/day of AER-ME extract) respectively for 30 days. Parameters such as cardiac function, inflammation, oxidative stress, apoptosis and differentiation of MSCs (angiogenesis) were evaluated. Histological studies of infracted myocardium reveled anti-inflammatory activity of AER-ME treatment.
RESULT AND DISCUSSION: Oxidative stress parameters revealed decrease in levels of malondialdehyde (MDA) and increase in superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSHpx) activity significantly indicating antioxidant activity of the extract. There was a reduction in cell death rate of treated rats due to the decrease in apoptotic index with prolongation of MI when compared to both control and sham-operated groups. The expression of Fas protein was parallel to apoptotic index. The vascular density increased significantly in extract treated group. The treatment showed improved cardiac activity with decreased left ventricular end diastolic (LVEDP) and arterial pressure while the left ventricular end systolic pressure (LVEP) and dp/dtmax increased significantly when compared to both control and sham-operated groups respectively showing the protective effect of the extract as necessitated by the transplantation of MSCs. The study marked the protective outcomes of AER-ME treatment for MSCs in microenvironment of infracted myocardium by improving their viability and increasing differentiation into cardiomyocytes.

PMID: 28480373 [PubMed - indexed for MEDLINE]

[Dehiscence of the Pericardial Patch, after Surgical Treatment of Active Infective Aortic Valve Endocarditis with Reconstruction of the Aortic Annulus Using a Glutaraldehyde-treated Autologous Pericardium].

Wed, 08/09/2017 - 12:45
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[Dehiscence of the Pericardial Patch, after Surgical Treatment of Active Infective Aortic Valve Endocarditis with Reconstruction of the Aortic Annulus Using a Glutaraldehyde-treated Autologous Pericardium].

Kyobu Geka. 2017 Mar;70(3):177-180

Authors: Yoshida K, Fukunaga N, Koizumi S, Nishiya K, Matsuda Y, Ishigami M, Nagasawa A, Sakata R, Koyama T

Abstract
A 50-year-old man was admitted with fever and chill sensation 6 months ago. Transthoracic echocardiography (TTE) showed left and right coronary cusp prolapses and a thickened tissue of the aortic curtain. Congestive heart failure due to active infective aortic valve endocarditis was diagnosed, and he underwent aortic valve replacement. The aortic annulus was reconstructed using a glutaraldehydetreated autologous pericardium. Six months after surgery, TTE showed severe aortic regurgitation and saccular change in the aortic annulus. Transesophageal echocargiography showed some echo free space from left to noncoronary cusp and abnormal movement of the prosthetic valve annulus. Intraoperative examination showed dehiscence of the pericardial patch from the aortic wall, but no finding of infection. Aortic valve rereplacement was performed with reconstruction of the aortic annulus using a bovine pericardium. To prevent the dehiscence of the pericardial patch from the aortic wall, sutures fixing the prosthetic valve were passed from outside of the aortic wall.

PMID: 28293002 [PubMed - indexed for MEDLINE]

Design of Replacement Leaflets for the Aortic Valve.

Wed, 08/09/2017 - 12:45
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Design of Replacement Leaflets for the Aortic Valve.

Semin Thorac Cardiovasc Surg. 2016;28(2):528-530

Authors: Rankin JS, Badhwar V

Abstract
Complete aortic valve leaflet replacement has been described for decades. Recently, Glutaraldehyde-fixed autologous pericardium has been used for this purpose, and good long-term results are emerging. Outcomes seem to be better than with prosthetic aortic valve replacement, and similar to native valve repair. Multiple strategies have been used for the design of replacement leaflets, including the measurement of inter-commissural chord length (as in the accompanying paper), and multiplying annular diameter by 1.5 to obtain leaflet free-edge length. Greater application of aortic valve leaflet replacement has the potential for improving the results of aortic valve surgery.

PMID: 28043472 [PubMed - indexed for MEDLINE]

Safety of Sugammadex for Neuromuscular Reversal in Cardiac Transplant Patients.

Wed, 08/09/2017 - 12:45
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Safety of Sugammadex for Neuromuscular Reversal in Cardiac Transplant Patients.

J Cardiothorac Vasc Anesth. 2016 Aug;30(4):e37

Authors: Varela N, Golvano M, Pérez-Pevida B

PMID: 27222050 [PubMed - indexed for MEDLINE]

Inherited platelet disorders: toward DNA-based diagnosis.

Wed, 08/09/2017 - 12:45
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Inherited platelet disorders: toward DNA-based diagnosis.

Blood. 2016 Jun 09;127(23):2814-23

Authors: Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH, BRIDGE-BPD Consortium and the ThromboGenomics Consortium

Abstract
Variations in platelet number, volume, and function are largely genetically controlled, and many loci associated with platelet traits have been identified by genome-wide association studies (GWASs).(1) The genome also contains a large number of rare variants, of which a tiny fraction underlies the inherited diseases of humans. Research over the last 3 decades has led to the discovery of 51 genes harboring variants responsible for inherited platelet disorders (IPDs). However, the majority of patients with an IPD still do not receive a molecular diagnosis. Alongside the scientific interest, molecular or genetic diagnosis is important for patients. There is increasing recognition that a number of IPDs are associated with severe pathologies, including an increased risk of malignancy, and a definitive diagnosis can inform prognosis and care. In this review, we give an overview of these disorders grouped according to their effect on platelet biology and their clinical characteristics. We also discuss the challenge of identifying candidate genes and causal variants therein, how IPDs have been historically diagnosed, and how this is changing with the introduction of high-throughput sequencing. Finally, we describe how integration of large genomic, epigenomic, and phenotypic datasets, including whole genome sequencing data, GWASs, epigenomic profiling, protein-protein interaction networks, and standardized clinical phenotype coding, will drive the discovery of novel mechanisms of disease in the near future to improve patient diagnosis and management.

PMID: 27095789 [PubMed - indexed for MEDLINE]

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Wed, 08/09/2017 - 12:45
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood. 2016 Jun 09;127(23):2791-803

Authors: Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E

Abstract
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.

PMID: 27084890 [PubMed - indexed for MEDLINE]

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Wed, 08/09/2017 - 12:45
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Blood. 2016 Jun 09;127(23):2903-14

Authors: Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD

Abstract
Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because of altered regulation of platelet formation from megakaryocytes (MKs). We report the identification of DIAPH1, which encodes the Rho-effector diaphanous-related formin 1 (DIAPH1), as a candidate gene for MTP using exome sequencing, ontological phenotyping, and similarity regression. We describe 2 unrelated pedigrees with MTP and sensorineural hearing loss that segregate with a DIAPH1 R1213* variant predicting partial truncation of the DIAPH1 diaphanous autoregulatory domain. The R1213* variant was linked to reduced proplatelet formation from cultured MKs, cell clustering, and abnormal cortical filamentous actin. Similarly, in platelets, there was increased filamentous actin and stable microtubules, indicating constitutive activation of DIAPH1. Overexpression of DIAPH1 R1213* in cells reproduced the cytoskeletal alterations found in platelets. Our description of a novel disorder of platelet formation and hearing loss extends the repertoire of DIAPH1-related disease and provides new insight into the autoregulation of DIAPH1 activity.

PMID: 26912466 [PubMed - indexed for MEDLINE]

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