Results 61 to 70 of about 246,191 (286)

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

Improved Outcomes for Older Children, Adolescents, and Young Adults With Neuroblastoma in the Post‐Immunotherapy Era: An Updated Report From the International Neuroblastoma Risk Group

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell, Kavitha Srivatsa, Paola Angelini, Pei‐Chi Kao, Brady Payne, Arlene Naranjo, Sveva Castelli, Miho Kato, Miki Ohira, Ulriche Pöetschger, Yaël Mossé, Lucas Moreno, Meredith S. Irwin, Ramya Ramanujachar, Wendy B. London   +14 more
wiley   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

African Trypanosomes undermine humoral responses and vaccine development : link with inflammatory responses? [PDF]

, 2017
African trypanosomosis is a debilitating disease of great medical and socioeconomical importance. It is caused by strictly extracellular protozoan parasites capable of infecting all vertebrate classes including human, livestock, and game animals.
Achcar, Alampour-Rajabi, Alirol, Allman, Authie, Authié, Auty, Baker, Balber, Banks, Barry, Barry, Berthier, Beschin, Beschin, Blom-Potar, Bockstal, Bockstal, Boller, Bonnet, Borst, Bosschaerts, Boulange, Bouyer, Brun, Brun, Bucheton, Calandra, Capewell, Chamond, Claes, Cnops, Cnops, Cnops, Cnops, Coller, Dagenais, Darji, De Muylder, De Trez, Delafosse, Delespaux, Desquesnes, Devine, Disease, Drennan, Dubois, Duszenko, Engstler, Fenn, Ferrante, Field, Figarella, Franco, Frenkel, Gilbert, Giordani, Gomez-Rodriguez, Graham, Graham, Haanstra, Hall, Hasker, Hemphill, Holland, Holland, Holt, Jamonneau, Jarvinen, Jones, Keitany, Kennedy, Kennedy, Klasen, Kondo, Kroubi, Kuriakose, La Greca, La Greca, Lalmanach, Lanca, Lebien, Lejon, Lejon, Leng, MacGregor, MacGregor, MacLean, MacLean, Magez, Magez, Magez, Mansfield, McGettrick, Mekori, Millar, Mogk, Mony, Morrison, Morrison, Morrison, Mulindwa, Mårtensson, Naessens, Naula, Ng, Nutt, Obishakin, Odongo, Onyilagha, Ooi, Ooi, Osório, O’Gorman, Paulnock, Pays, Peacock, Priotto, Radwanska, Radwanska, Reth, Rico, Rodgers, Rotureau, Ruiz-Postigo, Salmon, Schwede, Schwede, Seed, Sharpe, Sileghem, Sileghem, Simarro, Simarro, Simarro, Stijlemans, Stijlemans, Stijlemans, Stijlemans, Stijlemans, Stijlemans, Stijlemans, Swallow, Takeya, Taylor, Taylor, Taylor, Telleria, Tiberti, Trindade, Unciti-Broceta, Uzonna, Uzonna, Van Den Abbeele, Vassella, Welburn, Welburn, Wellde, Wenzler, Willert, Yaro   +160 more
core   +1 more source

Patient‐Level Barriers and Facilitators to Inpatient Physical Therapy in Adolescents and Young Adults With a Hematological Malignancy: A Qualitative Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite their increased risk for functional impairment resulting from cancer and its treatments, few adolescents and young adults (AYAs) with a hematological malignancy receive the recommended or therapeutic dose of exercise per week during inpatient hospitalizations.
Jennifer A. Kelleher, Jennifer L. Bernstein, Katia M. Crisler, Julia K. Herriott, Kimberly L. Klages, Robin E. Norris, Mariann L. Strenk, Sarah E. Bills, Meghan E. McGrady   +8 more
wiley   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

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

Stem cell migration - Methods and protocols

European Journal of Histochemistry, 2012
The trafficking of stem cells is something unconsciously clear to any biologists (e.g., developmental biologists) and physicians (e.g., all those taking care of hematopoietic and bone diseases and traumas); neverthless it is a phenomenon coming out as a ...
Carlo Alberto Redi
doaj   +1 more source

Non-skeletal activities of vitamin d: From physiology to brain pathology [PDF]

, 2019
Vitamin D is a secosteroid hormone regulating the expression of almost 900 genes, and it is involved in the regulation of calcium and phosphate metabolism, immune response, and brain development.
Bruna Lo Sasso, Chiara Bellia, Concetta Scazzone, Giorgia Iacolino, Giulia Bivona, Luisa Agnello, Marcello Ciaccio   +6 more
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