Results 61 to 70 of about 427,618 (269)

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Implementing Health‐Related Quality of Life Assessment in Pediatric Oncology: A Feasibility Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background There is growing interest in embedding health‐related quality of life (HRQoL) assessment and patient‐reported outcome measures (PROMs) within clinical cancer care. This study evaluated the feasibility, acceptability, and usability of implementing an electronic PROM (ePROM) platform to measure HRQoL in children with cancer ...
Mikaela Doig, Sophie Jessop, Jordan R. Hansford, Hien Le, Matthew O'Connor, Peter Gorayski, Andrew Cunningham, Amanda Hutchinson, Victoria Bedford, Eva Bezak, Nayana Parange, Kelly Skelton, Timothy Price, Michala Short   +13 more
wiley   +1 more source

Treatment Decision‐Making Roles and Preferences Among Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Decision‐making (DM) dynamics between adolescents and young adults (AYAs) with cancer, parents, and oncologists remain underexplored in diverse populations. We examined cancer treatment DM preferences among an ethnically and socioeconomically diverse group of AYAs and their parents.
Amanda M. Gutierrez, Jill O. Robinson, Wendy A. Allen‐Rhoades, Hadley S. Smith, Isabel Canfield, Rebecca L. Hsu, Sarah R. Scollon, Lauren R. Desrosiers‐Battu, Nicole M. Schneider, Frank Y. Lin, Donald Williams Parsons, Sharon E. Plon, Mary A. Majumder, Janet Malek, Amy L. McGuire   +14 more
wiley   +1 more source

Novel Alternative Splice Variants of Mouse Cdk5rap2

PLOS ONE, 2015
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability. A current model for the microcephaly phenotype invokes a stem cell proliferation and differentiation defect, which has moved the disease into the spotlight of stem cell biology and ...
Kraemer, Nadine, Issa-Jahns, Lina, Neubert, Gerda, Ravindran, Ethiraj, Mani, Shyamala, Ninnemann, Olaf, Kaindl, Angela M   +6 more
openaire   +6 more sources

Parent Quality of Life at Two Years Following Their Child's Completion of Acute Lymphoblastic Leukemia Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Parents of children treated for acute lymphoblastic leukemia (ALL) often experience significant caregiver burden and disruption to their well‐being. While parent quality of life (QoL) during treatment is well characterized, little is known about outcomes during early survivorship.
Sara Dal Pra, Maria McCarthy, Michael Takagi, Cinzia De Luca   +3 more
wiley   +1 more source

Cognitive Functioning in Vorinostat‐Treated Pediatric and Young Adult Patients Over the First 180 Days After Hematopoietic Stem Cell Transplant

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Cognitive and psychological difficulties could negatively interfere with treatment adherence and quality of life before and after hematopoietic stem cell transplant (HSCT). Methods to mitigate these changes may have positive effects on treatment success.
Kristen L. Votruba, Michelle Rozwadowski, Thomas Braun, April Rahrig, Edward Peres, Kirsten M. Williams, Vanessa Fabrizio, Julie‐An Talano, Carrie L. Kitko, Nicolas Parnell, Pavan Reddy, Sung Won Choi   +11 more
wiley   +1 more source

Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

Molecular Genetics & Genomic Medicine, 2019
Background X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset.
Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu   +10 more
doaj   +1 more source

Semantic prioritization of novel causative genomic variants

PLOS Computational Biology, 2017
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction ...
Imane Boudellioua, Rozaimi B. Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B. Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V. Gkoutos, Paul N. Schofield, Robert Hoehndorf   +9 more
openaire   +5 more sources

A PRSZT Registry Analysis of Prognostic Factors Influencing Survival and Relapse Rates After Second Allogeneic Hematopoietic Stem Cell Transplantation in Pediatric Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A second allogeneic (allo‐)hematopoietic stem cell transplantation (HSCT2) is a potential curative option for pediatric patients with acute lymphoblastic leukemia (ALL) following relapse after first allogeneic transplantation (HSCT1), but its efficacy is limited by high relapse rates and transplant‐related toxicity in highly pretreated ...
Ava Momm, Imme Haubitz, Rita Beier, Martin Zimmermann, Andrej Lissat, Peter Bader, Matthias Eyrich, Jan‐Henning Klusmann, Matthias Wölfl, Paul‐Gerhardt Schlegel, Verena Wiegering   +10 more
wiley   +1 more source

Evaluation of the Utility of Baseline Echocardiogram in Patients With Standard Risk Precursor B‐Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
Abstract Background A routine baseline echocardiogram is often obtained prior to anthracycline administration in children with cancer. The utility of baseline echocardiogram is unclear in patients with standard risk B‐cell acute lymphoblastic leukemia (SR B‐ALL) as their anthracycline cumulative dose is low.
Ziyad Alrajhi, Alice Pozza, Luc Mertens, Adam Paul Yan, Sarah Alexander   +4 more
wiley   +1 more source