Results 61 to 70 of about 941,077 (306)

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

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

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia [PDF]

, 2005
Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids.
Maret, A, Achermann, J. C., Mullis, PE, Morel, Y., Leheup, B, Flück, Christa E., Portrat-Doyen, Stéphanie, Leheup, B., Achermann, JC, Mallet, D, Fluck, CE, Mullis, Primus-Eugen, Fluck, C. E., Maret, A., Morel, Yves, Mullis, P. E., Theintz, Gérald E., Portrat-Doyen, S., Theintz, GE, Leheup, Bruno, Mallet, D., Achermann, John C., Theintz, G. E., Morel, Y, Portrat-Doyen, S, Maret, Alexander, Mallet, Delphine   +26 more
core   +2 more sources

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 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  

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +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

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

Risk of congenital anomaly in relation to residence near hazardous waste landfill sites. [PDF]

The main aim of this thesis is to investigate whether residence near hazardous waste landfill sites is associated with an increased risk of congenital anomaly.
Vrijheid, Martine
core   +1 more source