Results 61 to 70 of about 968,479 (311)

Late Onset Postcapillary Pulmonary Hypertension in Patients With Transposition of the Great Arteries and Mustard or Senning Baffles

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundThere is a paucity of data regarding late‐onset pulmonary hypertension (PH) in patients with transposition of the great arteries and atrial switch surgery.
Marie‐A. Chaix, Annie Dore, Lise‐Andrée Mercier, François‐Pierre Mongeon, François Marcotte, Réda Ibrahim, Anita W. Asgar, Azadeh Shohoudi, Fabien Labombarda, Blandine Mondésert, Nancy Poirier, Paul Khairy   +11 more
doaj   +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

Accuracy of pulse oximetry screening for detecting critical congenital heart disease in the newborns in rural hospital of Central India [PDF]

, 2013
Congenital cardiovascular malformations are the most common category of birth defects and responsible for mortality in the first twelve months of life.
Taksande, Amar M., Suwarnakar, K., Gadekar, A., Japzape, T., Lakhkar, Bhawna   +4 more
core  

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Impaired cardiac autonomic nervous control after cardiac bypass surgery for congenital heart disease [PDF]

, 2009
We undertook a study to describe changes in heart rate variability (HRV) postoperatively in children undergoing cardiac bypass surgery for congenital heart disease (CHD).
McGlone, Laura, Financial Support Department of Cardiac Surgery and Cardiology, The Royal Hospital for Sick Children, Yorkhill, Glasgow (Funder), Patel, Neil, Danton, Mark D., Young, David   +4 more
core   +4 more sources

Congenital Leukemia [PDF]

Indian Journal of Hematology and Blood Transfusion, 2013
Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85-88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very
Aishwarya, Raj, Sewali, Talukdar, Smita, Das, Pabitra Kumar, Gogoi, Damodar, Das, Jina, Bhattacharya   +5 more
openaire   +2 more sources

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

THE 17-HYDROXYPROGESTERONE LEVEL, ANDROSTENEDIONE LEVEL, AND SIDE EFFECTPOST HYDROCORTISONE THERAPY OF CONGENITAL ADRENAL HYPERPLASIA PATIENTS [PDF]

, 2010
Background: Congenital Adrenal Hyperplasia (CAH) is the most common 46,XX DSDs, which occurred when one of the enzymes required for cortisol and aldosterone synthesis in adrenal gland is deficit, therefore performed adrenal hormone imbalance.
Pratami, R. Rizcky Erika
core   +1 more source

RNA sequencing of archived neonatal dried blood spots

Molecular Genetics and Metabolism Reports, 2017
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °
Jonas Bybjerg-Grauholm, Christian Munch Hagen, Sok Kean Khoo, Maria Louise Johannesen, Christine Søholm Hansen, Marie Bækvad-Hansen, Michael Christiansen, David Michael Hougaard, Mads V. Hollegaard   +8 more
doaj   +1 more source

[P.D.F Download] Adult Congenital Heart Disease Full PDF Online

, 2020
Read Or Download Adult Congenital Heart Disease Full Books By by Carole A. Warnes (Editor) Read Online => Read Adult Congenital Heart Disease Download Book => Download Adult Congenital Heart Disease Adult Congenital Heart Disease pdf download Adult ...
[P.D.F Download] Adult Congenital Heart Disease Full PDF Online
core   +1 more source