Results 71 to 80 of about 968,479 (311)

Visual outcomes of bilateral congenital and developmental cataracts in young children in south India and causes of poor outcome. [PDF]

, 2013
CONTEXT: Bilateral pediatric cataracts are important cause of visual impairment in children. AIM: To study the outcome of bilateral pediatric cataract surgery in young children.
Krishnaiah, Sannapaneni, Gogate, Parikshit M, Mehta, Manohar K, Rohit C Khanna, Foster, Allen, Khanna, Rohit C, Parikshit M Gogate, Allen Foster, Manohar K Mehta, Sannapaneni Krishnaiah   +9 more
core   +1 more source

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

Swenson-like pull-through for treatment of the rare association between Hirschsprung’s disease and anorectal malformation

BMC Pediatrics
Background Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak, Mohamed Mansy, Hazem Khafaga, Yasmine Ghazaly, Reem Saeed, Nada Yakout, Saber Waheeb, Mostafa Zain   +7 more
doaj   +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

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Silibinin efficacy in a rat model of pulmonary arterial hypertension using monocrotaline and chronic hypoxia

Respiratory Research, 2019
Background C-X-C chemokine receptor type 4 (CXCR4) may be involved in the development of pulmonary arterial hypertension (PAH). CXCR4 inhibitor AMD3100 was described to have a positive effect on the prevention of pulmonary arterial muscularization in PAH
Tingting Zhang, Nanako Kawaguchi, Kenji Yoshihara, Emiko Hayama, Yoshiyuki Furutani, Kayoko Kawaguchi, Takeshi Tanaka, Toshio Nakanishi   +7 more
doaj   +1 more source

Rare variants in NR2F2 cause congenital heart defects in humans [PDF]

, 2014
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly ...
O'Kelly, Ita M., D’Alessandro, Lisa C.A., Mercer, Catherine L., Cosgrove, C., Bu'lock, Frances A, Mulder, B., Mital, Seema, Toka, Okan, Setchfield, Kerry, Lucassen, Anneke M., Mercer, C.L., Devriendt, Koenraad, Bentham, J., Arndt, Anne-Karin, Gewillig, M., O'Kelly, I.M., Siebert, Reiner, Breckpot, Jeroen, Brook, J David, Fitzpatrick, David F, Hurles, Matthew E, Mercer, Catherine L, Schubert, Stephan, Salmon, Anthony P, Thienpont, Bernard, Manickaraj, A.K., Thornborough, C., Thienpont, B., Hitz, Marc-Phillip, UK10K Consortium, Arndt, A.K., Gerety, Sebastian S, Mital, S., FitzPatrick, David F., Bu’Lock, Frances A., Bentham, Jamie, Bhattacharya, Shoumo, Swaminathan, G. Jawahar, Kramer, Hans-Heiner, Toka, O., Schubert, S., Al Turki, Saeed, Wilson, David I, Bhattacharya, S., Gerety, Sebastian S., Lindsay, Sarah, Devriendt, Koen, Breckpot, J., Watkins, H., Klaassen, Sabine, Salmon, Anthony P., Granados-Riveron, Javier, Swaminathan, G Jawahar, Wilson, David I., Watkins, Hugh, Kramer, H.H., Abdul-Khaliq, H., O'Kelly, Ita M, Harnack, C., Wilson, D.I., Bu'lock, Frances A., Lucassen, A.M., Cosgrove, Catherine, Lucassen, Anneke M, Thornborough, Chris, D'Alessandro, L.C.A., Low, J., Abdul-Khaliq, Hashim, Gerety, S.S., Gewillig, Marc, Harnack, Christine, ?, ?, Al Turki, S., Lindsay, S., Hoff, K., D'Alessandro, Lisa C.A., Klaassen, S., O’Kelly, Ita M., Granados-Riveron, J., Hurles, Matthew E., Salmon, A.P., Siebert, R., Fitzpatrick, D.F., Brook, J. David, Hitz, M.P., Mulder, Barbara, Swaminathan, G.J., Bu'Lock, F.A., Setchfield, K., Hurles, M.E., Manickaraj, Ashok K, Devriendt, K., D'Alessandro, Lisa C A, Manickaraj, Ashok K., Brook, J.D., Louw, Jacoba, Hoff, Kirstin, Low, Jacoba, FitzPatrick, David R.   +98 more
core   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Haploidentical Hematopoietic Cell Transplantation for Infants With X‐Linked Severe Combined Immunodeficiency Using Post‐Transplant Cyclophosphamide

Pediatric Blood &Cancer, EarlyView.
Shuhei Takahashi, Akito Kawachi, Dan Tomomasa, Eri Watanabe, Yuji Fujita, Yuya Sato, Masahiro Sekiguchi, Kentaro Watanabe, Moe Hidaka, Akihiro Hoshino, Takahiro Kamiya, Masatoshi Takagi, Hirokazu Kanegane, Motohiro Kato   +13 more
wiley   +1 more source

Perfusion techniques for an 800 g premature neonate undergoing Arterial Switch Procedure for Transposition of the Great Arteries★

The Journal of ExtraCorporeal Technology
Early cardiac surgery in neonates and infants with congenital heart disease has been performed since the middle to late years of the twentieth century.
Owens Richard, Loftin Madeline, Rosten Kellen, Fisher Douglas, Denison Blake, Gottlieb Erin, Fraser Charles   +6 more
doaj   +1 more source