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The advent of human induced pluripotent stem cells (hiPSCs) and their capacity to be differentiated into beating human cardiomyocytes (CMs) in vitro has revolutionized human disease modelling, genotype-phenotype predictions, and therapeutic testing. Hypertrophic cardiomyopathy (HCM) is a common inherited cardiomyopathy and the leading known cause of sudden cardiac arrest in young adults and athletes. On a molecular level, HCM is often driven by single pathogenic genetic variants, usually in sarcomeric proteins, that can alter the mechanical, electrical, signalling, and transcriptional properties of the cell. A deeper knowledge of these alterations is critical to better understanding HCM manifestation, progression, and treatment. Leveraging hiPSC-CMs to investigate the molecular mechanisms driving HCM presents a unique opportunity to dissect the consequences of genetic variants in a sophisticated and controlled manner. In this review, we summarize the molecular underpinnings of HCM and the role of hiPSC-CM studies in advancing our understanding, and we highlight the advances in hiPSC-CM-based modelling of HCM, including maturation, contractility, multiomics, and genome editing, with the notable exception of electrophysiology, which has been previously covered.
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Objective Thrombotic disease of the thoracic and abdominal aorta co-existing with aorto-iliac disease is a rare clinical association, which poses a great therapeutic challenge and adds to the complexity of the open surgical repair. Method We describe a case of 53-year-old woman with symptomatic thrombus in the thoracic and abdominal aorta down to the aortic bifurcation, which was successfully treated by Thoracic EndoVascular Aortic Repair via the left subclavian artery, open thrombectomy and aorto-iliac bypass. Result Completion angiogram performed through the axillary cannula showed good flow in the aorta, visceral vessels and iliac arteries. Conclusion This hybrid technical approach was a safe and effective strategy to tackle diffuse aortic thrombus with minimal morbidity and visceral embolization. Simultaneous aorto bi iliac bypass with thoracic endovascular aortic repair is a viable approach that can be undertaken with lesser morbidity and mortality risk as compared to complex and highly stressful total open surgical repair.
Assuntos
Aorta Abdominal/cirurgia , Aorta Torácica/cirurgia , Aneurisma da Aorta Abdominal/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Procedimentos Endovasculares , Implante de Prótese Vascular/métodos , Consenso , Procedimentos Endovasculares/métodos , Feminino , Humanos , Artéria Ilíaca/cirurgia , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Stomach perforation after cardiopulmonary resuscitation is a rare finding. This is mainly caused by incorrect management of the airway during CPR performed by non-medical personnel. PRESENTATION OF CASE: We report a case of 72year old female who sustained a stomach perforation during prolonged CPR in an out of hospital arrest situation. This was diagnosed on a computed tomography scan of the abdomen requiring midline laparotomy and a primary repair of the stomach. DISCUSSION: The training of medical and non-medical persons in cardiopulmonary resuscitation is to be encouraged. However it should be emphasized that any technique which breaches the normal integrity of the body can itself lead to life-threatening complications. CONCLUSION: A high degree of vigilance is required in patients presenting after a cardiac arrest and CPR.
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A 62-year-old man presented to our department with abdominal pain and diarrhea for 3 weeks on a background of previous branched endovascular repair for a thoracoabdominal aneurysm. A triple-phase computed tomography scan of his abdomen and pelvis showed a large aortocaval fistula caused by a type III endoleak from a dislodged superior mesenteric artery stent. He was successfully treated with a BeGraft (Bentley Innomed, Hechingen, Germany) by using an endovascular technique.