Results 51 to 60 of about 6,560,036 (301)

Language, Culture, and Cancer: Qualitative Insights Into Communication Disparities Among Spanish‐Speaking Caregivers of Children With Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Latino children are projected to make up nearly one‐third of United States (US) children by 2060, and many of their caregivers speak Spanish. Prior survey research has documented communication difficulties for Spanish‐speaking caregivers of children with cancer, but contemporary qualitative data are limited.
Jenny Ruiz   +6 more
wiley   +1 more source

Prenatal diagnosis of a rare β‐thalassemia gene -90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α4.2)

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare β ...
Hou Qian   +5 more
doaj   +1 more source

Biphasic Clinical Course of Pediatric Cytomegalovirus‐Associated Immune Thrombocytopenia: Early Poor Treatment Response but Favorable Long‐Term Outcomes

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cytomegalovirus (CMV) is a recognized trigger of immune thrombocytopenia (ITP); however, its incidence and impact on disease course in children remain controversial. Therefore, we aimed to characterize the clinical course of pediatric patients with CMV‐associated ITP.
Oded Gilad   +9 more
wiley   +1 more source

Characteristics and outcomes of diffuse non-midline gliomas with H3F3A gene mutation in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort study

open access: yesActa Neuropathologica Communications
Diffuse gliomas with H3F3A gene mutation such as H3.3 K27M and G34R/V are infrequently found in the cerebral hemisphere. These tumors may be called histone H3 K27M-mutant diffuse non-midline gliomas (NDMG) or H3 G34-mutant diffuse hemispheric gliomas ...
Hirokazu Nakatogawa   +30 more
doaj   +1 more source

A case of placental trisomy 18 mosaicism causing a false negative NIPT result

open access: yesMolecular Cytogenetics, 2017
Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang   +7 more
doaj   +1 more source

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports

open access: yesMolecular Cytogenetics, 2020
Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi   +6 more
doaj   +1 more source

Bone Mineral Density After Contemporary Treatment for Acute Lymphoblastic Leukaemia: A Matched Cross‐Sectional Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Reduced bone mineral density (BMD) has been reported in survivors of childhood and young adult acute lymphoblastic leukaemia (ALL); however, data from cohorts treated with contemporary protocols and including matched controls remain limited.
Karen Schow Jensen   +10 more
wiley   +1 more source

Early diagnosis of Duchenne muscular dystrophy - A Treat-NMD international workshop.

open access: yes
The diagnosis of Duchenne muscular dystrophy (DMD) is significant at any stage, however an early diagnosis in a presymptomatic or very early phase of DMD, offers unique opportunities and challenges for families and health care providers. Currently, there
Lorentzos, M   +4 more
core   +1 more source

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

open access: yesHuman Genomics, 2019
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi   +7 more
doaj   +1 more source

Parents of Youth With Cancer Report on Their Psychosocial Care: iSTEPPP Survey Finds Alignment and Gaps With Standards

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Standards for Psychosocial Care for Children with Cancer and Their Families guide the provision of comprehensive psychosocial care. Parallel to research characterizing implementation of the Standards from the perspective of providers, this study examines implementation of the Standards from the perspective of parents of youth ...
Emily M. Pariseau   +8 more
wiley   +1 more source

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