Results 51 to 60 of about 544,097 (312)

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic

, 2018
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency.
Kobayashi, Jeff, Brunga, Ledia, Hewson, Stacy, Donner, Elizabeth J., Mercimek-Andrews, Saadet, Imhof, Elizabeth, Salomons, Gajja S., Patel, Jaina, Zak, Maria, Ojeda, Matilde Fernandez   +9 more
core   +1 more source

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

BMC Research Notes, 2019
Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio, Rogério Lopes Rufino   +6 more
doaj   +1 more source

Claudin‐6 Protein Expression in Atypical Teratoid/Rhabdoid Tumors Is Strongly Enriched in the Molecular Subgroup AT/RT‐TYR

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Claudin‐6 has emerged as a promising immunotherapeutic target, yet protein‐level data in atypical teratoid/rhabdoid tumors (AT/RTs) have been inconsistent. We analyzed 36 well‐characterized AT/RT samples and found membranous claudin‐6 protein expression in 58% of cases, with striking enrichment in the molecular subgroup AT/RT‐TYR (100%) and ...
Victoria E. Fincke, Christian Thomas, Michael C. Frühwald, Pascal D. Johann, Martin Hasselblatt   +4 more
wiley   +1 more source

Randomized trial of safety and effectiveness of chlorproguanil-dapsone and lumefantrine-artemether for uncomplicated malaria in children in the Gambia. [PDF]

, 2011
BACKGROUND: Chlorproguanil-dapsone (Lapdap), developed as a low-cost antimalarial, was withdrawn in 2008 after concerns about safety in G6PD deficient patients.
Njie, Fanta, Bisseye, C, Nwakanma, D, Snell, P., Walton, Robert T., Conway D., Nwakanma, Davis, Cyrille Bisseye, Joof F., Sesay, Sanie, Milligan P., Walton, R, Sanie Sesay, Snell Paul, Joof, F., Snell P., Cheung, Yin Bun, Milligan Paul, Sesay S., Sesay, S, Bisseye C., Diatta Mathurin, Bisseye, Cyrille, Njie, F, Dunyo, Samuel, Janha, R., Adiamoh, M, Adiamoh, Majidah, Njie F., Janha, Ramatoulie, Temple B., Temple, B., Diatta, Mathurin, Cheung Yin Bun, Ramatoulie Janha, Yin Bun Cheung, Nwakanma, D., Diatta M., David Conway, Temple, Beth, Snell, P, Walton R., Janha, R, Sisay Joof Fatou, Robert Walton, Sisay Joof, F, Samuel Dunyo, Conway, D., Sirugo, G, Sirugo, G., Dunyo, S., Nwakanma D., Temple, B, Sirugo, Giorgio, Janha Ramatoulie, Dunyo S., Njie, F., Dunyo, S, Nwakanma Davis, Paul Milligan, Walton Robert, Beth Temple, Conway, David, Mathurin Diatta, Paul Snell, Bisseye Cyrille, Sesay, S., Cheung, YB, Temple Beth, Janha R., Adiamoh, M., Milligan, Paul, Milligan, P., Cheung Y.B., Bisseye, C., Fatou Sisay Joof, Walton, Robert, Sesay Sanie, Diatta, M., Conway David, Sirugo G., Diatta, M, Majidah Adiamoh, Davis Nwakanma, Njie Fanta, Adiamoh M., Snell, Paul, Milligan, P, Sisay Joof, Fatou, Sirugo Giorgio, Dunyo Samuel, Conway, D, Fanta Njie, Adiamoh Majidah, Giorgio Sirugo, Cheung, Y. B.   +95 more
core   +1 more source

Genetic Studies on Myeloperoxidase Deficiency in Italy

Japanese Journal of Infectious Diseases, 2004
Hereditary myeloperoxidase (MPO) deficiency is the most common neutrophil biochemical defect characterized by the lack of peroxidase activity. In order to extend the epidemiological studies on hereditary MPO deficiency in Italy, approximately 40,000 individuals were analyzed and 7 partial and 8 total MPO deficient subjects were identified.
MARCHETTI C, PATRIARCA, PIERLUIGI, SOLERO, GP, BARALLE FE, ROMANO, MAURIZIO   +4 more
openaire   +3 more sources

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source

Deficiency of the splicing factor RBM10 limits EGFR inhibitor response in EGFR-mutant lung cancer

The Journal of Clinical Investigation, 2022
Molecularly targeted cancer therapy has improved outcomes for patients with cancer with targetable oncoproteins, such as mutant EGFR in lung cancer. Yet, the long-term survival of these patients remains limited, because treatment responses are typically ...
Shigeki Nanjo, Wei Wu, Niki Karachaliou, Collin M. Blakely, Junji Suzuki, Yu-Ting Chou, Siraj M. Ali, D. Lucas Kerr, Victor R. Olivas, Jonathan Shue, Julia Rotow, Manasi K. Mayekar, Franziska Haderk, Nilanjana Chatterjee, Anatoly Urisman, Jia Chi Yeo, Anders J. Skanderup, Aaron C. Tan, Wai Leong Tam, Oscar Arrieta, Kazuyoshi Hosomichi, Akihiro Nishiyama, Seiji Yano, Yuriy Kirichok, Daniel S.W. Tan, Rafael Rosell, Ross A Okimoto, Trever G. Bivona   +27 more
doaj   +1 more source

Primary Lactase Deficiency: Genetic or Acquired?

Gastroenterology, 1970
From a critical review of the literature, it would appear that, in animals, intestinal lactase is an adaptive enzyme, with adaptation occurring in 5–8 weeks. In man, short-term attempts at adaptation have not been successful, although a fall in lactase activity or lactose absorption has been found after substrate withdrawal in some subjects.
T D, Bolin, A E, Davis
openaire   +3 more sources

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source