Results 111 to 120 of about 1,448,973 (364)

Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia [PDF]

, 2017
The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively.
Franchini, Massimo, Liumbruno, Giancarlo Maria, Marano, Giuseppe, Mengoli, Carlo, Piccinini, Vanessa, Pupella, Simonetta, Vaglio, Stefania   +6 more
core   +1 more source

Increasing Incidence of Congenital Hypothyroidism: Some Answers, More Questions [PDF]

, 2011
Stephen LaFranchi
openalex   +1 more source

DCAF13 Safeguards Hematopoietic Stem Cells via RRS1‐Regulated Ribosome Biogenesis

Advanced Science, EarlyView.
This study establishes DCAF13 as an essential regulator for hematopoietic stem cell (HSC) function. Its deletion in mice causes lethal pancytopenia and HSC depletion. Mechanistically, DCAF13 interacts with RRS1 and mediates its non‐degradative K27‐linked ubiquitination, thereby stabilizing RRS1 to maintain ribosome biogenesis and protein translation ...
Mengke Li, Yuxin Wu, Shuai Zhou, Peipei Tang, Jiaming Wei, Ling Liu, Zhenyi Wang, Deyang Shi, Shengnan Yuan, Qingyu Zhang, Shihui Wang, Qing Zhang, Huan Zhao, Rui Zhang, Yingying Wang, Shiwei Yang, Xiangli Chen, Xiaojing Shi, Guangzhi Liu, Yuwei Zhang, Jinming Li, Xu Dong Zhang, Rick F Thorne, Dongping Wei, Zumin Zhu, Song Chen   +25 more
wiley   +1 more source

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
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
doaj   +1 more source

Application of the Boston Technical Performance Score to intraoperative echocardiography

Echo Research and Practice, 2019
Background: The Technical Performance Score (TPS) developed by Boston Children’s Hospital showed surgical outcomes correlate with adequacy of technical repair when implemented on pre-discharge echocardiograms.
Hannah R Bellsham-Revell, Antigoni Deri, Silvia Caroli, Andrew Durward, Owen I Miller, Sujeev Mathur, Jelena Saundankar, David R Anderson, B Conal Austin, Caner Salih, Kuberan Pushparajah, John M Simpson   +11 more
doaj   +1 more source

Opportunity analysis of newborn screening programs [PDF]

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program.
HERRERO, Carmen, MORENO-TERNERO, Juan D.
core  

High Frequency of the R117H Cystic Fibrosis Mutation in Patients with Congenital Absence of the Vas Deferens [PDF]

, 1993
Radj Gervais, Viviane Dumur, Jean-Marc Rigot, Jean‐Jacques Lafitte, Philippe Roussel, Mireille Claustres, Jacques Demaille   +6 more
openalex   +1 more source

Congenital glaucoma [PDF]

, 2020
INSERM
openalex   +1 more source

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, EarlyView.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source