Results 11 to 20 of about 246,811 (245)

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Comprehensive long-term follow up of adults with arterial switch operation– european collaboration for prospective outcome research in congenital heart disease (Epoch-aso)–study design and protocols [PDF]

, 2020
Background: Long-term outcomes in adults with prior arterial switch operation (ASO) have not yet been well defined. The aim of this study is to elucidate incidence and predictors of adverse cardiac outcomes in a prospectively followed cohort of adults ...
Rueda-Soriano, Joaquin, Bouma, Berto, Greutmann, Matthias, Gabriel, Harald, Bouchardy, Judith, Gallego, Pastora, Dos, Laura, Rueda Soriano, Joaquin, Schwerzmann, Markus, Tobler, Daniel, Ruperti-Repilado, Francisco Javier, Soriano, Joaquin Rueda, Ladouceur, Magalie, Javier Ruperti-Repilado, Francisco   +13 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Pulse oximetry screening for clinically unrecognized critical congenital heart disease in the newborns [PDF]

, 2007
The aim of this article is to determine the incidence of clinically unrecognized critical congenital heart disease (CCHD) in the newborns by using pulse oximetric screening.peer ...
Pongpanich, Boonchab, Bunjapamai, W., Ruangritnamcha, Chatree   +2 more
core  

Congenital heart block associated with Sjögren syndrome: case report

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

Congenital heart disease in adults

British Journal of Anaesthesia, 1997
andardiovascular system occur in 7–10 per 1000 live births (0.7–1%). 113 It is the commonest form of congenital disease and accounts for approximately 30% of the total burden of congenital disease. With a decline in the incidence of rheumatic heart disease, congenital heart disease has become the main cause of heart disease in children in the developed
D, Findlow, E, Doyle
openaire   +2 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Multi-Institutional US Experience of the Occlutech© AFR Device in Congenital and Acquired Heart Disease

, 2021
Objectives: To detail the US multi-institutional experience with the Occlutech© (Occlutech International AB, Helsingborg, Sweden) atrial flow regulator (AFR) in children and adults with acquired or congenital heart disease.
Anderson, Jason, Zablah, Jenny, Salem, Morris, Cabalka, Allison, O’Callaghan, Barry, Alexy, Ryan, Morgan, Gareth, Vettukattil, Joseph, Levi, Daniel, Ebeid, Makram   +9 more
core   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Anxiety and Depression Levels in Parents after Counselling for Fetal Heart Disease

, 2023
The progress in fetal cardiology allows for the early diagnosis of congenital heart defects, but there is still a lack of data on the psychological situation of parents expecting a child with a congenital heart defect.
Ostermayer, Eva; 3Department of Obstetrics, Klinikum Rechts der Isar, 81675 Munich, Germany, Herrmann-Lingen, Christoph; 2Department of Psychosomatic Medicine and Psychotherapy, University of Göttingen, Medical Center and German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, 37075 Göttingen, Germany, Oberhoffer-Fritz, Renate, Erbas, Gizem Seyda; 1German Heart Center, Department of Pediatric Cardiology and Adult Congenital Heart Disease, 80636 Munich, Germany, Wacker-Gussmann, Annette; 1German Heart Center, Department of Pediatric Cardiology and Adult Congenital Heart Disease, 80636 Munich, Germany, Herrmann-Lingen, Christoph, Wacker-Gussmann, Annette, Ewert, Peter, Ostermayer, Eva, Ewert, Peter; 1German Heart Center, Department of Pediatric Cardiology and Adult Congenital Heart Disease, 80636 Munich, Germany, Erbas, Gizem Seyda, Kovacevic, Alexander; 4Department of Pediatric and Congenital Cardiology, Heidelberg University Hospital, 69120 Heidelberg, Germany, Oberhoffer-Fritz, Renate; 1German Heart Center, Department of Pediatric Cardiology and Adult Congenital Heart Disease, 80636 Munich, Germany, Kovacevic, Alexander   +13 more
core   +1 more source