Results 61 to 70 of about 17,994 (195)

Psychosocial functioning in children with phenylketonuria: relationships between quality of life and parenting indicators

, 2019
This study aimed to assess the impact of phenylketonuria (PKU) and its treatment on parent and child health-related quality of life (HRQoL), and to identify the parenting-related correlates of parent and child HRQoL, as well as metabolic control.Eighteen
Kirby, Grace, Morawska, Alina, Coman, David, Etel, Evren, McGill, James, Inwood, Anita, Mitchell, Amy E., Kirby, G, Grace Kirby, Inwood, A, Amy E. Mitchell, Evren Etel, David Coman, Morawska, A, McGill, J, Alina Morawska, Coman, D, Etel, E, James McGill, Anita Inwood, Mitchell, AE   +20 more
core   +1 more source

Phenylketonuria: A Comprehensive Review of Pathophysiology, Diagnosis, and Management Strategies [PDF]

Introduction: Phenylketonuria (PKU) is a genetically determined congenital metabolic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, which is ingested through food.
Konopka, Agata, Wdowiak, Natalia, Adamska, Kinga, Szczepaniak, Zuzanna, Lissak, Karina, Ziółkowska, Dominika   +5 more
core   +3 more sources

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

Patient voices on PKU care: Insights from focus groups with current and former patients

Molecular Genetics and Metabolism Reports
Many adults with phenylketonuria (PKU) were discharged from clinics before lifelong treatment guidelines and new therapies. As part of the PKU lost to clinical care study, moderated focus groups were conducted to understand why individuals become lost to
Emily Zhu, Suzanne Hollander, Stephanie Sacharow   +2 more
doaj   +1 more source

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran

Molecular Genetics and Metabolism Reports, 2015
To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in ...
Aria Setoodeh, Bahram Yarali, Ali Rabbani, Shohreh Khatami, Sedigheh Shams   +4 more
doaj   +1 more source

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre

Orphanet Journal of Rare Diseases, 2021
Background Recently published European Society for Phenylketonuria (ESPKU) guidelines have recommended a lifelong diet with phenylalanine (Phe) control ≤ 600 μmol/L for phenylketonuria (PKU) patients.
George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss, Gisela Wilcox   +4 more
doaj   +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

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