Results 51 to 60 of about 825,443 (336)

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Feasibility and effectiveness of telemedicine for adult patients with congenital heart disease: A one-year single-center experience-based studySummary table

International Journal of Cardiology Congenital Heart Disease
Introduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli, Nicola Grimaldi, Flavia Fusco, Antonio Orlando, Michela Palma, Maria Cristina Boccia, Sabrina Bassolino, Anna Iervolino, Berardo Sarubbi   +8 more
doaj   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Billingsley, G., Graw, Jochen, Heon, E., Illig, T., Klopp, N., Rudolph, G., Wjst, M.   +6 more
core   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Artificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation

Open Heart
Background Aortic coarctation (CoA) is a congenital anomaly leading to upper-body hypertension and lower-body hypotension. Despite surgical or interventional treatment, arterial hypertension may develop and contribute to morbidity and mortality ...
Renate Oberhoffer, Peter Ewert, Harald Kaemmerer, Nicole Nagdyman, Oliver Dewald, Frank Klawonn, Michael Huntgeburth, Andreas Eicken, Christian Meierhofer, Sebastian Freilinger, Martin Middeke, Pinar Bambul Heck, Annika Freiberger, Frank Harig, Manuel Lösch, Fritz Mellert, Fabian von Scheidt, Elsa Ury, Nicole Wolfrum, Ann-Sophie Kaemmerer-Suleiman, Mathieu N. Suleiman   +20 more
doaj   +1 more source

Cardiac resynchronization therapy-defibrillator implantation guided by electroanatomic mapping in a young adult patient with congenital heart disease

Indian Pacing and Electrophysiology Journal, 2022
Cardiac resynchronization therapy-defibrillator (CRT-D) implantation is a therapeutic option for adult patients with congenital heart disease (CHD), bundle branch block, reduced ejection fraction and symptoms of heart failure. A new implantation approach
Giovanni Domenico Ciriello, Diego Colonna, Emanuele Romeo, Berardo Sarubbi   +3 more
doaj   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

International Journal of Genomics
Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.
Jian Chen, Hairui Sun, Ling Han, Xiaoyan Gu, Xiaoyan Hao, Yuwei Fu, Zongjie Weng, Yi Xiong, Baomin Liu, Hongjia Zhang, Yihua He, Hong Li   +11 more
doaj   +1 more source

Evaluation of critical congenital heart disease from 2018 to 2020 in Turkey: a retrospective cohort study [PDF]

, 2023
Nilgün Çaylan, Sıddika Songül Yalçın, Başak Tezel, Oben Üner, Şirin Aydin, Fatih Kara   +5 more
openalex   +1 more source