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  • 1
    Online Resource
    Online Resource
    Elsevier BV ; 2020
    In:  Journal of Thrombosis and Haemostasis Vol. 18, No. 10 ( 2020-10), p. 2551-2556
    In: Journal of Thrombosis and Haemostasis, Elsevier BV, Vol. 18, No. 10 ( 2020-10), p. 2551-2556
    Type of Medium: Online Resource
    ISSN: 1538-7836
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 2099291-9
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  • 2
    In: Blood, American Society of Hematology, Vol. 140, No. Supplement 1 ( 2022-11-15), p. 7875-7876
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    RVK:
    RVK:
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2022
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
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  • 3
    In: Journal of Genetic Counseling, Wiley, Vol. 27, No. 6 ( 2018-12), p. 1395-1404
    Abstract: Li‐Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi‐structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives. Analysis utilized summary descriptive statistics and inductive qualitative content coding. Most parents (33/46; 72%) expressed beliefs that adolescence influences the importance of LFS testing and/or discussions about genetic risk. Twenty‐six parents related this influence to cognitive, physical, and social changes occurring during adolescence. Aspects of adolescence perceived as promoting LFS testing/discussion included developmental appropriateness, risks of cancer in adolescence, need for medical screening decisions, influence on behaviors, transition to adult health care, and reproductive risks. Aspects of adolescence perceived as complicating LFS testing/discussions included potential negative emotional impact, misunderstanding, added burden, and negative impact on self‐image or future planning. Parents recognize the complex influence that adolescence has on LFS testing and conversations surrounding results. Further research is needed to understand the actual impact of genetic testing on young people, and how to best support parents and adolescents within the broader context of heritable diseases.
    Type of Medium: Online Resource
    ISSN: 1059-7700 , 1573-3599
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2016899-8
    SSG: 12
    SSG: 5,2
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  • 4
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 2020
    In:  Pediatrics Vol. 146, No. 4 ( 2020-10-01)
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 146, No. 4 ( 2020-10-01)
    Abstract: Parents in the United States have a legal right to refuse vaccination for their children. There are, however, special circumstances under which the state may compel vaccination against parental wishes. In this Ethics Rounds article, we present the case of a young boy with sickle cell disease who was partially vaccinated against encapsulated bacteria and the ethics of whether to compel complete vaccination before splenectomy.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2020
    detail.hit.zdb_id: 1477004-0
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  • 5
    In: Pediatric Blood & Cancer, Wiley, Vol. 66, No. 2 ( 2019-02)
    Abstract: The broad phenotypic variability among individuals with sickle cell disease (SCD) suggests the presence of modifying factors. We identified two unrelated SCD patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis‐associated alpha‐spectrin mutation c.460_462dupTTG (p.L155dup), a mutation enriched due to positive selective pressure of malaria, similar to the SCD globin mutations. A high index of suspicion for additional hematologic abnormalities may be indicated for challenging patients with SCD. These cases highlight the validity of specialized testing such as ektacytometry and next‐generation sequencing for patients and family members to assess genotype/phenotype correlations.
    Type of Medium: Online Resource
    ISSN: 1545-5009 , 1545-5017
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 2130978-4
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  • 6
    Online Resource
    Online Resource
    Elsevier BV ; 2017
    In:  The Journal of Pediatrics Vol. 186 ( 2017-07), p. 189-191
    In: The Journal of Pediatrics, Elsevier BV, Vol. 186 ( 2017-07), p. 189-191
    Type of Medium: Online Resource
    ISSN: 0022-3476
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2017
    detail.hit.zdb_id: 2005245-5
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  • 7
    Online Resource
    Online Resource
    American Society of Hematology ; 2013
    In:  Blood Vol. 122, No. 21 ( 2013-11-15), p. 772-772
    In: Blood, American Society of Hematology, Vol. 122, No. 21 ( 2013-11-15), p. 772-772
    Abstract: Background Treatment recommendations for childhood Immune Thrombocytopenia (ITP) in the United States have been a subject of much debate. In early 2011, the American Society of Hematology (ASH) updated their guidelines, recommending that children with ITP be managed with observation alone when there is mild or no bleeding symptoms regardless of platelet count, reserving hospitalization and pharmacologic treatment for those with significant bleeding. The objective of this study was to better understand the impact these recommendations have had on practice patterns at a large, urban, pediatric tertiary care hospital in the United States. Methods We examined data from patients aged 0-17 with newly diagnosed ITP seen in inpatient and outpatient locations at the Children's Hospital of Philadelphia (CHOP) between January 1, 2007 and December 31, 2012. A cohort was developed by querying the hospital data system for all patients treated 2007-2012 using the ICD-9 code for ITP (287.31). Chart review was used to exclude patients with alternative diagnosis for thrombocytopenia, diagnosis prior to the time of interest, and initial treatment elsewhere. We compared management strategies at diagnosis and retreatment rates in the first 6 months after the initial diagnosis. The primary outcome, management at diagnosis, was analyzed by logistic regression and chi square analysis. Results 502 unique patients were identified. After chart review, an evaluable cohort of 313 patients with newly diagnosed ITP remained. The most common reasons for elimination were an alternative diagnosis (n=41), diagnosis in a previous year (n=68), and initial treatment at another hospital (n=69). Of those with an alternative diagnosis, Evan's syndrome (n=8) and ALPS (n=5) were the most common reasons for elimination. New diagnoses per year ranged from 34-51 in 2007-2009 and 60-63 in 2010-2012. The mean platelet count and age at diagnosis were 16.9 x10^9/l and 6.22 years old, respectively. Distribution was skewed toward lower platelet count and younger age. Overall, 19.5% of patients were noted to have bleeding symptoms beyond bruising or petechiae. The most common bleeding symptoms at presentation were epistaxis (n=25), wet purpura (n=20), gastrointestinal bleeding (n=5), hematuria (n=4), and menstrual bleeding (n=4). Intracranial hemorrhage was rare (n=2, 0.6%). Overall, 55% of patients were managed with pharmacologic treatment at diagnosis. Of those treated, 98% were treated with IVIG. Additionally, the proportion of patients observed at diagnosis rose significantly during this time period from 34% of patients in 2007-2010 to 49.2% in 2011 (p 〈 .02) and 72% in 2012 (p 〈 0.001). Via logistic regression, younger age, lower platelet count, and year of diagnosis were significantly associated with increased odds of pharmacologic treatment. During 2010-2012, 21% of patients were also treated within 0.25-6 months after diagnosis, with no significant difference by year or initial management (p 〉 0.5). The majority treated after diagnosis were due to “low platelet counts” (n=14), bruising/wet purpura (n=6), or parental anxiety/activity level (n=3). One child, initially treated with IVIG, presented with ICH secondary to trauma 1.5 months after diagnosis. Conclusions Over time, a significantly increased proportion of patients were observed at diagnosis. Though we cannot prove causation, this change demonstrates a strong association between timing of ASH recommendations and increase in observation rates. As we increased the proportion of children being observed at diagnosis we did not see an increase in the proportion of children receiving treatment or those with significant bleeding symptoms in the following 6 months. Additionally, we found that 37% of patients originally identified via ICD-9 code did not meet our criteria for evaluation of ‘newly diagnosed ITP'. As there is a greater shift to observing patients, along with the development of outpatient infusion services, inpatient databases could become skewed in regard to ITP. Because of this, caution should be utilized in using ICD-9 code alone to identify new diagnoses, especially when chart review is not accessible. Future studies will be able to identify the changing national trend in admission and management and whether adoption of ASH guidelines is widespread. Disclosures: Lambert: Amgen: Research Funding; Nestle: Consultancy; GSK: Research Funding.
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    RVK:
    RVK:
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2013
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
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  • 8
    In: Pediatric Blood & Cancer, Wiley, Vol. 69, No. 12 ( 2022-12)
    Abstract: Individuals with sickle cell disease (SCD) experience systemic barriers in accessing high‐quality care. Research suggests that patient/family–provider relationships are an important indicator of healthcare quality and can influence disease self‐management and outcomes. The Patient Centered Communication (PCC) framework holds that patient/family‐centered communication (e.g., eliciting, understanding, and validating patients’ perspectives within their unique psychosocial contexts) contributes to improved family–provider relationships, as well as self‐efficacy for disease management, adherence, and health outcomes. While the PCC framework has been useful in guiding the evaluation of patient/family–provider communication in other pediatric populations, it has not yet been applied in the context of pediatric SCD. This study aimed to use this framework to examine patient and family perceptions of communication with pediatric SCD healthcare providers. Procedure Total 17 caregivers (82% mothers, 94% Black/African American) and eight patients (62% female, aged 13–19 years, M  = 16.50) completed semi‐structured interviews. The PCC framework informed the development of a preliminary codebook. Thematic content analysis summarized family perspectives regarding communication with providers. Results For youth with SCD and their caregivers, specific themes related to family‐centered communication included: reducing patient/family distress, supporting disease self‐management efforts, facilitating information exchange and decision‐making, and fostering positive and trusting relationships with providers. Conclusions This study helps to address gaps in the literature related to patient/family–provider communication within pediatric SCD. Results underscore the importance of patient‐ and family‐centered communication across pediatric SCD care. These findings can inform future research and clinical care initiatives to improve patient/family–provider interactions and health outcomes for this underserved population.
    Type of Medium: Online Resource
    ISSN: 1545-5009 , 1545-5017
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2130978-4
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  • 9
    Online Resource
    Online Resource
    American Society of Hematology ; 2014
    In:  Blood Vol. 124, No. 21 ( 2014-12-06), p. 2175-2175
    In: Blood, American Society of Hematology, Vol. 124, No. 21 ( 2014-12-06), p. 2175-2175
    Abstract: BACKGROUND: Sickle Cell Disease (SCD) is an autosomal recessive hemoglobinopathy affecting 90-100,000 persons in the US and is associated with considerable morbidity and early mortality. Little is known regarding how having a child with SCD affects parents’ future reproductive decisions or acceptability of alternative family planning options. METHODS: We conducted semi-structured one-on-one interviews with parents of young children with SCD who are patients at The Children’s Hospital of Philadelphia. Interviews included open-ended questions regarding SCD, thoughts about their child’s SCD, family planning, attitudes about alternative reproductive options to decrease the risk of a future child having SCD (adoption, invitro fertilization with egg/sperm donations (IVFD), or IVF with preimplantation genetic diagnosis (IVF/PGD)), and advice to others. Inclusion criteria included being the biologic parent of a child with SCD, having 1 or 2 children younger than 6 years, and not being pregnant. We chose this time frame since parents may be more likely to be actively deciding on future children. Interviews were digitally recorded, transcribed, and analyzed by 2 reviewers. Interviews were conducted until thematic saturation of content was achieved. Analysis was based on a modified grounded theory. RESULTS: Twenty parents completed the interview, 18 were female. Twelve had children with SCD 2 years or younger. Fourteen had children with SS-type SCD, with the remaining having SC-type. The mean age of parents was 26.4 years (SD 6.4 years). Thirteen had educational attainment beyond high school. Nine held private medical insurance. Nineteen identified at black or African American. One half (n=10) knew their hemoglobinopathy status prior to pregnancy though only two knew their partner’s status. Four believed it was possible for them to have a child with SCD prior to having children. Regarding family planning, almost all describe SCD as genetic or inherited. Eight described actively decreasing the number of total children desired and eliminating future planned pregnancies, sighting fear of SCD as the main reason. In general, parents have positive and negative feelings regarding the possibility of SCD in a future child. Positive attributes to having a future child with SCD included the older sibling being a role model or support system and feeling more prepared. Negative attributes included anticipating a sense of regret or irresponsibility. Knowledge of alternative reproductive options to decrease the risk of SCD in a future child was limited with 5 parents responding with an option in open ended questioning. When asked about specific options, half of parents would consider using adoption, 2 for IVFD, and 11 for IVF/PGD. The most common themes in not considering these options were the desire for a biologic child (adoption, IVFD), fear of parental jealously (IVFD), and ethical and religious concerns (IVF/PGD). Other prominent themes that emerged included anxiety and hope regarding the future, the normalcy of their child, desire for information prior to pregnancy for others (general SCD information, personal, and partner status), and regret in lack of information known prior to pregnancy. CONCLUSIONS: This study expands our understanding of how having a child with SCD affects parents’ reproductive considerations. In general, there was a lack of knowledge of personal or partner SCD status prior to pregnancy. Many parents expressed a duality of emotion often combining regret for not knowing their status earlier and hope for their child. We noted variable knowledge and acceptance of three alternative reproductive options that could be used to decrease the risk of future children having SCD despite a relatively high number of parents reportedly altering their reproductive plans because of SCD. Parents endorsed the desire for others to gain information earlier to attain fully informed decisions, as for some, this would have altered their prior decisions. Ultimately, families should be able to make informed reproductive decisions and have access to reproductive options, if desired. Future directions include study of parental desires outside of our limited study population and informing opportunities for SCD education, dissemination of newborn screening results, and access to preconception counseling including individual/partner testing, genetic counseling, and alternative reproductive options. Disclosures No relevant conflicts of interest to declare.
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    RVK:
    RVK:
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2014
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
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  • 10
    In: Blood, American Society of Hematology, Vol. 140, No. Supplement 1 ( 2022-11-15), p. 10875-10876
    Type of Medium: Online Resource
    ISSN: 0006-4971 , 1528-0020
    RVK:
    RVK:
    Language: English
    Publisher: American Society of Hematology
    Publication Date: 2022
    detail.hit.zdb_id: 1468538-3
    detail.hit.zdb_id: 80069-7
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