Results 31 to 40 of about 7,483 (223)

Achados audiológicos em crianças com fenilcetonúria Audiologic findings in children with phenylketonuria

Revista da Sociedade Brasileira de Fonoaudiologia, 2010
OBJETIVO: Investigar a existência de alterações na audição de crianças com fenilcetonúria diagnosticadas e tratadas precocemente e comparar os resultados com os encontrados nas avaliações auditivas de crianças normais de mesma idade.
Patrícia Cotta Mancini, Ana Lúcia Pimenta Starling, Letícia Macedo Penna, Camila Alexandra Vilaça Ramos, Michelle Imaculada Otaviani Ferreira, Maria Cecília Martinelli Iório   +5 more
doaj   +1 more source

Genetic Deconvolution of Embryonic and Maternal Cell‐Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning

Advanced Science, EarlyView.
DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang, Jie Qiao, Yidong Chen, Peijie Zhou   +3 more
wiley   +1 more source

Comprehensive Characterization of Bihormonal Cells and Endocrine Cell Lineages in Mammalian Pancreatic Islets

Advanced Science, EarlyView.
This study integrates dual‐reporter genetics, imaging flow cytometry, and single‐cell sequencing to characterize rare bihormonal cells in mouse and human pancreatic islets. Gcg⁺Ins⁺ cells resemble α‐cells rather than transitional states. Cross‐species gene network analysis refines islet cell taxonomy and reveals human‐specific δ‐cell subtypes ...
Xin‐Xin Yu, Peng Peng, Yi‐Ning Wang, Mao‐Yang He, Shuang He, Chen‐Tao Jin, Liu Yang, Xi Wang, Jia‐Xi Zheng, Jie Gao, Cheng‐Ran Xu   +10 more
wiley   +1 more source

PKU: attention and executive profile in early detected and adequately treated patients [PDF]

, 2021
Antecedentes: Los pacientes fenilcetonúricos, incluso adecuadamente diagnosticados y tratados, pueden resultar con disfunción neurocognitiva. Objetivo: Evaluar la neurocognición de niños fenilcetonúricos y su relación con variables de la enfermedad y su ...
Chiesa, Ana Elena, Enacan, Rosa, Pardo Campos, María, Valle, Gabriela   +3 more
core  

Oscillating Magnetic Field Induced Bone Injury Repair by using Drug‐Free Micromotors

Advanced Science, EarlyView.
This work presents a payload‐free, minimally invasive approach for bone repair using magnetic hydrogel micromotors, which enhance bone regeneration via localized micromovement stimulation, achieving a twofold increase in new bone formation in vivo. Abstract Bone injury repair remains a significant clinical challenge due to the tissue's limited self ...
Jie Shen, Rui He, Jiajun He, Lipeng Liao, Yongcan Huang, Shaoxiong Min, Xiaoreng Feng, Bin Chen, Ben Wang   +8 more
wiley   +1 more source

In Vivo Dynamic Coronary Arteries Blood Flow Imaging Based on Multi‐Cycle Phase Clustering Ultrafast Ultrasound

Advanced Science, EarlyView.
This study addresses a critical gap in ultrafast ultrasound cardiovascular flow imaging and introduces a transformative approach, Clustering Singular Value Decomposition (cSVD), which enables dynamic cardiovascular flow imaging throughout full cardiac cycle without motion correction and hyper‐fast imaging strategies.
Hao Yu, Jiabin Zhang, Feng Feng, Jinyu Yang, Yu Xia, Yunlong Zhao, Jue Zhang   +6 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

The European challenges of funding orphan medicinal products [PDF]

, 2018
Funding of orphan medicinal products (OMPs) is an increasing challenge in the European Union (EU).To identify the different methods for public funding of OMPs in order to map the availability for rare disease patients, as well as to compare the public ...
Arickx, Francis, Bucsics, Anna, Cohn-Zanchetta, Emanuelle, Fürst, Jurij, Kaló, Zoltán, Kamusheva, Maria, Kawalec, Pawel, Molnár, Mária Judit, Petrova, Guenka, Slaby, Juraj, Stawowczyk, Ewa, Szegedi, Márta, Vocelka, Milan, Zechmeister-Koss, Ingrid, Zelei, Tamás   +14 more
core   +4 more sources

Safety, tolerability, pharmacokinetics and pharmacodynamics of HSK31858, a novel oral dipeptidyl peptidase‐1 inhibitor, in healthy volunteers: An integrated phase 1, randomized, double‐blind, placebo‐controlled, single‐ and multiple‐ascending dose study

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Dipeptidyl peptidase‐1 (DPP‐1) inhibitors have been studied for the treatment of neutrophil‐mediated inflammatory diseases including bronchiectasis, bronchial asthma and cystic fibrosis. This study evaluated the pharmacokinetics, pharmacodynamics, safety and tolerability of DPP‐1 inhibitor HSK31858 in healthy Chinese volunteers.
Yuhao Wang, Chao Yu, Mengyue Hu, Lu Wang, Meixia Chen, Hanmo Liu, Nan Wu, Jie Hou   +7 more
wiley   +1 more source

Transendocardial injection of expanded autologous CD34+ cells after myocardial infarction: Design of the EXCELLENT trial

ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.
Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli, François Roubille, Nicolas Meyer, Giulio Pompilio, Lionel Leroux, Philippe Henon, Guillaume Trebuchet, Anthony Criquet, Matthieu de Kalbermatten, Eric Saloux, Alain Manrique, Pierre‐Yves Marie, Deepak L. Bhatt, Scott D. Solomon, Gilles Montalescot, David E. Newby, Faiez Zannad, on behalf of the EXCELLENT Trial Investigators   +17 more
wiley   +1 more source