MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1172/jci43653

Медицинская библиотека · The Journal of clinical investigation · 2010

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

Schoenmakers Erik, Agostini Maura, Mitchell Catherine, Schoenmakers Nadia, Papp Laura, Rajanayagam Odelia, Padidela Raja, Ceron-Gutierrez Lourdes, Doffinger Rainer, Prevosto Claudia, Luan Jian'an, Montano Sergio, Lu Jun, Castanet Mireille, Clemons Nick, Groeneveld Matthijs, Castets Perrine, Karbaschi Mahsa, Aitken Sri, Dixon Adrian, Williams Jane, Campi Irene, Blount Margaret, Burton Hannah, Muntoni Francesco, O'Donovan Dominic, Dean Andrew, Warren Anne, Brierley Charlotte, Baguley David, Guicheney Pascale, Fitzgerald Rebecca, Coles Alasdair, Gaston Hill, Todd Pamela, Holmgren Arne, Khanna Kum Kum, Cooke Marcus, Semple Robert, Halsall David, Wareham Nicholas, Schwabe John, Grasso Lucia, Beck-Peccoz Paolo, Ogunko Arthur, Dattani Mehul, Gurnell Mark, Chatterjee Krishna

Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

An 83-year-old man with a history of permanent atrial fibrillation (AF) anticoagulated by dabigatran 150 b.i.d., type 2 diabetes mellitus, and hypertension was admitted to the hospital with a diagnosis of ST-elevation myocardial infarction (STEMI). The patient was loaded with 300 mg of aspirin p.o., 5000 IU of unfractionated heparin i.v. and 600 mg of clopidogrel and was transferred to the catheterization laboratory. Coronary angiography demonstrated left anterior descending artery (LAD) occlusion. During the LAD angioplasty a dissection of a distal part of the LAD and the blood extravasation to the pericardium occurred (Figure 1 A). Idarucizumab 2 × 2.5 g i.v. was administered and the inflated balloon maintained at the site of coronary perforation. About 10 min after the end of idarucizumab infusion, the balloon was deflated and the patient presented with clinical symptoms of cardiac tamponade such as blood pressure decrease and tachycardia. The echocardiographic assessment revealed up to 16 mm accumulation of pericardial fluid (Figure 2 A). Immediately the covered stent was implanted (Papyrus, Biotronik) and the pericardiocentesis was carried out. 320 ml of blood was finally drained. Control contrast injection revealed a covered perforating zone with no contrast extravasation (Figure 1 B). The echocardiographic control revealed pericardial effusion less than 5 mm (Figure 2 B). The patient was stable with a blood pressure of 130/80 mm Hg, a heart rate of 100-130/min (AF), and without chest pain. No significant reduction in the red blood cell count was observed. Antiplatelet therapy was given consisting of aspirin and clopidogrel. In the following days enoxaparin was introduced and finally changed to dabigatran 110 mg b.i.d.

Для цитирования: Schoenmakers Erik, Agostini Maura, Mitchell Catherine, Schoenmakers Nadia, Papp Laura, Rajanayagam Odelia, Padidela Raja, Ceron-Gutierrez Lourdes, Doffinger Rainer, Prevosto Claudia, Luan Jian'an, Montano Sergio, Lu Jun, Castanet Mireille, Clemons Nick, Groeneveld Matthijs, Castets Perrine, Karbaschi Mahsa, Aitken Sri, Dixon Adrian, Williams Jane, Campi Irene, Blount Margaret, Burton Hannah, Muntoni Francesco, O'Donovan Dominic, Dean Andrew, Warren Anne, Brierley Charlotte, Baguley David, Guicheney Pascale, Fitzgerald Rebecca, Coles Alasdair, Gaston Hill, Todd Pamela, Holmgren Arne, Khanna Kum Kum, Cooke Marcus, Semple Robert, Halsall David, Wareham Nicholas, Schwabe John, Grasso Lucia, Beck-Peccoz Paolo, Ogunko Arthur, Dattani Mehul, Gurnell Mark, Chatterjee Krishna. Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.. The Journal of clinical investigation. 2010. DOI: 10.1172/jci43653.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.