Results 101 to 110 of about 8,660,824 (403)

Down syndrome: A curative prospect?

AIMS Neuroscience, 2020
Experimental work regarding corrective actions on chromosomes and genes, and control of gene products is yielding promising results. It opens the way to advances in dealing with the etiological aspects of Down syndrome and may lead to important changes ...
Jean A. Rondal
doaj   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Characterizing Parental Concerns About Lasting Impacts of Treatment in Children With B‐Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐acute lymphoblastic leukemia (B‐ALL) is the most common pediatric cancer, and while most children in high‐resource settings are cured, therapy carries risks for long‐term toxicities. Understanding parents’ concerns about these late effects is essential to guide anticipatory support and inform evolving therapeutic approaches ...
Kellee N. Parker, Sarah W. Alexander, Lisa M. Jacola, Kimberly A. Buff, Kyobin Hwang, Elham Hashemi, Gregory Stoddard, Lindsay A. Jibb   +7 more
wiley   +1 more source

Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]

, 2011
Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core   +1 more source

Clinical Characteristics and Prognostic Risk Factors for Pediatric B‐Cell Lymphoblastic Lymphoma: A Multicenter Retrospective Cohort Study for China Net Childhood Lymphoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐cell lymphoblastic lymphoma (B‐LBL) represents a rare variety of non‐Hodgkin lymphoma, with limited research on its biology, progression, and management. Methods A retrospective analysis was performed on the clinical characteristics of 256 patients aged ≤18 years who received treatment under the China Net Childhood Lymphoma (CNCL)‐
Zhijuan Liu, Jian Wang, Ling Jin, Yanlong Duan, Fu Li, Yueping Jia, Leping Zhang, Xiaojun Yuan, Wei Liu, Ying Liu, Ansheng Liu, Mincui Zheng, Yunpeng Dai, Lian Jiang, Lirong Sun, Xiaowen Zhai, Rong Liu, Chunju Zhou, Zifen Gao, Yonghong Zhang, Xiaomei Yang   +20 more
wiley   +1 more source

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.

The Journal of the National Comprehensive Cancer Network, 2020
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations for genetic testing and counseling for hereditary cancer syndromes, and risk management recommendations for patients who are diagnosed ...
M. Daly, R. Pilarski, Matthew B. Yurgelun, Michael P. Berry, S. Buys, Patricia Dickson, S. Domchek, Ahmed Elkhanany, S. Friedman, J. Garber, M. Goggins, M. Hutton, S. Khan, Catherine Klein, W. Kohlmann, A. Kurian, C. Laronga, J. Litton, J. Mak, Carolyn S. Menendez, S. Merajver, B. Norquist, K. Offit, T. Pal, H. Pederson, Gwen Reiser, K. Shannon, K. Visvanathan, J. Weitzel, M. Wick, K. Wisinski, M. Dwyer, S. Darlow   +32 more
semanticscholar   +1 more source

A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity [PDF]

, 2007
Rheumatoid arthritis (RA) is a chronic inflammatory disease with a heritability of 60%. Genetic contributions to RA are made by multiple genes, but only a few gene associations have yet been confirmed.
Alfredsson, L, Burkhardt, H, Holmdahl, Rikard,, Kallberg, H, Klareskog, L, Lindqvist, Anna-Karin,, Lund University., Olsson, Lina,, Padyukov, L   +8 more
core   +2 more sources

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li, Ronghua Hong, Hua You, Feiping Xu, Qingjun Zhang, Yiwen Lin, Yuting Su, Danmei Lan, Lingjing Jin, Junhui She   +9 more
wiley   +1 more source

Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report [PDF]

Journal of Pediatrics Review
Background: Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by enzyme deficiencies affecting glycogen synthesis or breakdown. Glycogen, stored mainly in the liver and muscles, is crucial for maintaining glucose levels
Shahab Noorian, Hossein Moravej, Zhila Afshar, Afagh Hassanzadeh Rad, Setila Dalili   +4 more
doaj  

Cell and Gene Therapy: Transforming Treatment Paradigms for Patient‐Centric Care

Clinical and Translational Science
Cell and gene therapies (CGTs) are transforming medicine by offering potential cures for diseases previously considered untreatable. Despite rapid advancements, challenges remain in optimizing efficacy and safety and ensuring patient accessibility and ...
Sojeong Yi, Chia‐Yung Wu, Avery McIntosh, Maria E. Santaella, Tara M. Robinson, Michael Z. Liao   +5 more
doaj   +1 more source