Results 51 to 60 of about 19,693 (207)

Moving through adulthood: The lived experience of Irish adults with PKU

Frontiers in Psychology, 2022
BackgroundThis paper represents a portion of the findings from one of the first research studies eliciting the lived experience of adults with an early diagnosis of Phenylketonuria (PKU) living in Ireland.
Mary-Ellen O'Shea, Bernadette Sheehan Gilroy, Anna-Marie Greaney, Anita MacDonald   +3 more
doaj   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Protein Substitutes in PKU; Their Historical Evolution

, 2021
Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid ...
Anita MacDonald, Catherine Ashmore, Alex Pinto, Sharon Evans, Anne Daly   +4 more
core   +1 more source

The efficacy of concurrent chemoradiotherapy with or without nimotuzumab in high‐risk patients with locally advanced head and neck squamous cell carcinoma post‐surgery: A real‐world study

Precision Radiation Oncology, EarlyView.
Figure 1 Patient selection flowchart. CCRT, concurrent chemoradiotherapy; NCCRT, nimotuzumab and concurrent chemoradiotherapy. Abstract Purpose Patients with locally advanced head and neck squamous cell carcinoma (LA‐HNSCC) harboring high‐risk pathological features after radical surgery face high recurrence rates.
Yuejia Zhou, Linting Zhang, Wenjuan Lai, Jingyun Tan, Jing Gao, Yajie Liu, Shubin Wang, Feng Peng, Gangling Tong   +8 more
wiley   +1 more source

AI‐Enabled Automated Schistocyte Classification in Peripheral Blood for TMA Auxiliary Diagnosis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Schistocytes are critical morphological markers for thrombotic microangiopathy (TMA) diagnosis. Manual identification is hampered by inconsistent standards and high interobserver variability, compromising accuracy. Although AI has advanced in hematology, AI‐enabled schistocyte classification remains under‐studied, creating a ...
Lei Shang, Chao Fang, Dongshuo Li, Xuesong Wang, Jiani Yu, Yunchu Cui, Jingliang Chen, Xuekai Liu   +7 more
wiley   +1 more source

Fenýlketónúría (PKU) : greinargerð með fræðslubæklingi um PKU

, 2014
Eftirfarandi umfjöllun er 10 ECTS lokaverkefni til BA gráðu í þroskaþjálfafræði á Íþrótta-, tómstunda- og þroskaþjálfasviði Háskóla Íslands. Verkefnið er tvíþætt og inniheldur annars vegar bækling um meðfædda efnaskiptagallann fenýlketónúría (PKU) og ...
Eydís Eva Pálsdóttir 1989-
core   +1 more source

Psychological well‐being of early and continuously treated phenylketonuria patients

JIMD Reports, 2021
Background Despite enormous advances in therapy, phenylketonuria (PKU) remains an incurable, inherited metabolic disease requiring life‐long treatment with potential to negatively impact quality of life and psychological well‐being. Therefore, the aim of
Alena Gerlinde Thiele, Nicole Spieß, Rudolf Ascherl, Maria Arelin, Carmen Rohde, Wieland Kiess, Skadi Beblo   +6 more
doaj   +1 more source

Chronic Health Condition Trajectories and Multimorbidity in Older Adults With Intellectual Disability: A Brief Report of 15 years of Longitudinal Evidence From IDS‐TILDA

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Adults with intellectual disability experience significant health issues that increase with age. Longitudinal analyses offer important evidence on how the trajectories of these conditions' develop and change. Methods Data were drawn from five waves of IDS‐TILDA, with a nationally representative sample of over 700 adults with ...
Martin McMahon, Aviejay Paul, Catriona Ryan, Louise Lynch, Philip McCallion, Mary McCarron, Eilish Burke   +6 more
wiley   +1 more source

Toward “Obesityomics”: Domain‐Specific Omics in Precision Obesity Medicine with a Brief AI Perspective

Obesity Reviews, EarlyView.
ABSTRACT Background Obesity's global rise has outpaced the effectiveness of “one‐size‐fits‐all” prevention and treatment strategies. The promise of precision medicine lies in addressing the etiological and biological diversity of obesity and transforming it into actionable endotypes.
Nadia Abu Samra, Sara G. I. Suliman, Mohammed Al‐Hadad, Dorret I. Boomsma, Fadwa Alhantoobi, Maithah Alsamahi, Haneen Abufarajallah, Alia Al Tikriti, Zeyar Aung, Selena Richards, Abdulrahim Sajini, Mira Mousa, Fatima Sulaiman, Wael Osman   +13 more
wiley   +1 more source

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients [PDF]

, 2019
Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes).
Prieto, Laura, Lapunzina, Pablo, Santos-Simarro,Fernando, Enacán,Rosa E., Chiesa,Ana Elena, Miñana, Mariana Nuñez, Valle, María Gabriela, Fraga, Claudia I., Lapunzina,Pablo, Specola, Norma, Salerno,Mercedes, Fraga,Claudia I., Specola,Norma, Fernandez, Luis, Fernandez,Luis, Santos Simarro, Fernando, Prieto,Laura, Chiesa, Ana Elena, Miñana,Mariana Nuñez, Enacán, Rosa E., Valle,Maria Gabriela, Salerno, Mercedes   +21 more
core   +1 more source