PubMed | Childrens Hospital Los Angeles Los Angeles, University of Southern California and Peking University
Type: | Journal: Human molecular genetics | Year: 2017
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting. In order to evaluate the function of IFT88 in regulating craniofacial development, we generated Wnt1-Cre;Ift88
Smith K.,University of Southern California |
Neville-Jan A.,University of Southern California |
Freeman K.A.,Oregon Health And Science University |
Adams E.,Oregon Health And Science University |
And 4 more authors.
Developmental Medicine and Child Neurology | Year: 2016
Aim: Using the World Health Organization International Classification of Functioning, Disability and Health (ICF), the aim of this study was to identify effective strategies for managing urinary and bowel complications resulting from spina bifida. Method: Charts of 210 children between 4- and 13-years-old with spina bifida were reviewed to quantify medical interventions and continence status. Standardized quality of life (QOL) questionnaires were administered to a subset of participants; child and parent interviews were carried out to examine the experience of living with bowel and bladder incontinence. Practitioners were also interviewed to understand their perspectives of intervention effectiveness. Results: Chart review indicated less than half of children were continent for bowel and bladder. More variability existed in bowel continence programs, and practitioners considered bowel continence more difficult to achieve than bladder continence. No significant associations were found between continence status and QOL measures. Interviews, however, reflected how managing continence at home and school more broadly affects QOL. Among practitioners, some focused primarily on optimizing physical health while others focused on activity and participation. Interpretation: While continence is a goal, programs used to achieve this are individualized and outcomes may be affected by differential treatment effects, environmental factors, and/or stigma experienced by children. © 2016 Mac Keith Press.
Espinoza J.C.,Childrens Hospital Los Angeles Los Angeles |
Haley K.,Childrens Hospital Los Angeles Los Angeles |
Patel N.,University of Wisconsin - Madison |
Dhall G.,Childrens Hospital Los Angeles Los Angeles |
And 18 more authors.
Pediatric Blood and Cancer | Year: 2016
Purpose: To report the final analysis of survival outcomes for children with newly diagnosed high-grade glioma (HGG) treated on the "Head Start" (HS) II and III protocols with chemotherapy and intent to avoid irradiation in children <6 years old. Patients and Methods: Between 1997 and 2009, 32 eligible children were enrolled in HS II and III with anaplastic astrocytoma (AA, n = 19), glioblastoma multiforme (GBM, n = 11), or other HGG (n = 2). Central pathology review was completed on 78% of patients. Patients with predominantly brainstem tumors were excluded. Patients were to be treated with single induction chemotherapy regimen C, comprising four cycles of vincristine, carboplatin, and temozolomide. Following induction, patients underwent marrow-ablative chemotherapy and autologous hematopoietic cell rescue. Irradiation was used for patients with residual tumor after consolidation or >6 years old or at the time of tumor progression. Results: The 5-year event-free survival (EFS) and overall survival (OS) for all HGG patients were 25 ± 8% and 36 ± 9%, respectively. The EFS at 5 years for patients with AA and GBM were 24 ± 11% and 30 ± 16%, respectively (P = 0.65). The OS at 5 years for patients with AA and GBM was 34 ± 12% and 35 ± 16%, respectively (P = 0.83). Children <36 months old experienced improved 5-year EFS and OS of 44 ± 17% and 63 ± 17%, compared with children 36-71 months old (31 ± 13% and 38 ± 14%) and children >72 months old (0% and 13 ± 12%). Conclusions: Irradiation-avoiding treatment strategies should be evaluated further in young children with HGG given similar survival rates to older children receiving standard irradiation-containing therapies. © 2016 Wiley Periodicals, Inc.
Milam J.,University of Southern California |
Slaughter R.,University of Southern California |
Meeske K.,University of Southern California |
Ritt-Olson A.,University of Southern California |
And 4 more authors.
Psycho-Oncology | Year: 2015
Objective: Health-promoting behaviors are recommended to childhood cancer survivors (CCS) to reduce late effects resulting from cancer treatment. Understanding factors associated with substance use is needed, especially among Hispanic CCS who are underrepresented in previous studies. The objective of this study is to examine substance use behaviors of recently treated Hispanic and non-Hispanic CCS. Methods: One hundred ninety-three Los Angeles County CCS who were diagnosed between 2000 and 2007 (54% Hispanic; mean age 19.9 years, SD=2.8; mean age at diagnosis=12.1, SD=3.0; mean years since diagnosis=7.8, SD=2.0) provided self-reported information on substance use, demographics, clinical factors, religiosity, and depressive symptoms. Risk and protective factors for substance use were examined using multivariable logistic regression. Results: Prevalence of 30-day substance use was 11%, 25%, and 14% for tobacco, alcohol, and marijuana, respectively. In controlled regression models, age was positively associated with tobacco use, binge drinking, and polysubstance use (use of at least two of the three substances). Male gender, higher depressive symptoms, and higher socioeconomic status were associated with greater marijuana use. In addition, religiosity was negatively associated with the use of all substances. Conclusions: The prevalence rates for substance use in this ethnically diverse representative sample of CCS are lower than those observed in the general population. Older CCS were at higher risk of substance use, and depression was associated with greater marijuana use. No differences by ethnicity were observed. Interventions for substance use prevention/cessation among CCS may be most effective if implemented before the age of 21 years and address mental health as part of survivorship care. © 2015 John Wiley & Sons, Ltd.
PubMed | Childrens Hospital Los Angeles Los Angeles
Type: | Journal: Frontiers in genetics | Year: 2012
Long non-coding RNAs (ncRNAs) have been shown to regulate important biological processes that support normal cellular functions. Aberrant regulation of these essential functions can promote tumor development. In this review, we underscore the importance of the regulatory role played by this distinct class of ncRNAs in cancer-associated pathways that govern mechanisms such as cell growth, invasion, and metastasis. We also highlight the possibility of using these unique RNAs as diagnostic and prognostic biomarkers in malignancies.