Results 1 to 10 of about 941,077 (306)

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

International Journal of Genomics
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li   +11 more
doaj   +1 more source

Comparison of Early Outcomes for Normothermic and Hypothermic Cardiopulmonary Bypass in Children Undergoing Congenital Heart Surgery

Frontiers in Pediatrics, 2018
Objective: Comparison of early outcomes of normothermic cardiopulmonary bypass (N-CPB, ≥35°C) with hypothermic cardiopulmonary bypass (H-CPB, 28–34°C) for congenital heart defects.Methods: Data from 99 patients <2 years operated with N-CPB (n = 48) or
Antonio F. Corno, Antonio F. Corno, Claire Bostock, Simon D. Chiles, Joanna Wright, Maria-Teresa Jn Tala, Branko Mimic, Mirjana Cvetkovic   +7 more
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(?) CONGENITAL SYNOSTOSIS. [PDF]

The Lancet, 1919
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openaire   +1 more source

Surgical repair of a pseudocoarctation with cervical aortic arch complicated by multiple aneurysms of the aorta: a case report

The Pan African Medical Journal, 2017
Aortic pseudocoarctation is a rare congenital anomaly characterized by elongation and deformity of the aortic arch and is known to be associated with aneurysmal formation.
Said Makani, Julia Mitchell, Olivier Metton, Sylvie Di Filippo, Roland Henaine, Jean Ninet   +5 more
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The use of Macitentan in Fontan circulation: a case report

BMC Cardiovascular Disorders, 2017
Background The Fontan circulation, a result of a palliative procedure in patients with single systemic ventricles, is defined by chronically elevated pulmonary vascular resistance.
Polyvios Demetriades, Amir Aziz, Robin Condliffe, Sarah E. Bowater, Paul F. Clift   +4 more
doaj   +1 more source

ApoM maintains cellular homeostasis between mitophagy and apoptosis by affecting the stability of Nnt mRNA through the Zic3-ApoM-Elavl2-Nnt axis during neural tube closure

Cell Death and Disease
Research on the aetiology of neural tube defects (NTDs) has made progress in recent years. However, the molecular mechanism of apolipoproteins underlying NTDs development remains unclear.
Qing Liu, Dan Liu, Yuejiao Wang, Xiaowei Wei, Wei Ma, Hui Gu, Shanshan Jia, Yiwen He, Wenting Luo, Songying Cao, Zhonghua Yang, Anhua Wu, Zhengwei Yuan   +12 more
doaj   +1 more source

A novel three-dimensional echocardiographic method for device size selection in patients undergoing ASD trans-catheter closure

The Egyptian Heart Journal, 2019
Background Proper device size selection is a crucial step for successful ASD device closure. The current gold standard for device size selection is balloon sizing. Balloon sizing can be tedious, time consuming and increase fluoroscopy and procedure times
Alaa Roushdy, Aya El sayegh, Yasmin Abdelrazek Ali, Hebattalla Attia, Azza El fiky, Maiy El sayed   +5 more
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Medium term follow-up after percutaneous pulmonary valve replacement with the Melody® valve

International Journal of Cardiology: Heart & Vasculature, 2015
Introduction: Data on long term function of the Melody valve are scarce. Patients and methods: single institution; results of percutaneous pulmonary valve implantation (PPVI) from 2006 to 2014.
Bjorn Cools, Werner Budts, Ruth Heying, Derize Boshoff, Benedicte Eyskens, Stefan Frerich, Els Troost, Marc Gewillig   +7 more
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Fostering continuous quality improvement in a European rare disease network: Where are we now?

Orphanet Journal of Rare Diseases
Background The European Reference Network for rare Inherited and Congenital Anomalies (ERNICA) aims to improve care for patients with rare and complex digestive and gastrointestinal diseases across Europe through cross-border collaboration. In a previous
Linde Margriet van der Kamp, Sara Román Galdrán, Willemijn F. E. Irvine, Daniel Rossi, Romee van Steekelenburg, ERNICA Representatives, René M. H. Wijnen, Erwin Ista, Olivia K. C. Spivack   +8 more
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Artificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation

Open Heart
Background Aortic coarctation (CoA) is a congenital anomaly leading to upper-body hypertension and lower-body hypotension. Despite surgical or interventional treatment, arterial hypertension may develop and contribute to morbidity and mortality ...
Renate Oberhoffer, Peter Ewert, Harald Kaemmerer, Nicole Nagdyman, Oliver Dewald, Frank Klawonn, Michael Huntgeburth, Andreas Eicken, Christian Meierhofer, Sebastian Freilinger, Martin Middeke, Pinar Bambul Heck, Annika Freiberger, Frank Harig, Manuel Lösch, Fritz Mellert, Fabian von Scheidt, Elsa Ury, Nicole Wolfrum, Ann-Sophie Kaemmerer-Suleiman, Mathieu N. Suleiman   +20 more
doaj   +1 more source