Abstract:
:VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis. We present a patient with SCN due to a homozygous c.1403C>T (p.P468L) mutation in VPS45, critical regulator of SNARE-dependent membrane fusion. Structural modeling indicates that P468, like the T224 and E238 residues affected by previously reported mutations, cluster in a VPS45 "hinge" region, indicating its critical role in membrane fusion and VPS45-associated SCN. Bone marrow transplantation, complicated by early graft failure rescued with stem cell boost, led to resolution of the hematopoietic phenotype.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Shah RK,Munson M,Wierenga KJ,Pokala HR,Newburger PE,Crawford Ddoi
10.1002/pbc.26571subject
Has Abstractpub_date
2017-09-01 00:00:00issue
9eissn
1545-5009issn
1545-5017journal_volume
64pub_type
杂志文章abstract:BACKGROUND:The hallmark of sickle cell disease (SCD) is recurrent, painful vaso-occlusive episodes (VOC) and is the most common reason for hospitalization in SCD patients. Narcotics, particularly morphine, along with fluid hydration are standard treatments for painful episodes but have been associated with the developm...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20403
更新日期:2005-10-15 00:00:00
abstract::Infliximab-daclizumab was used to treat acute and chronic liver and gut graft-versus-host disease (GVHD) in two children after standard immunosuppressive therapy failed. Infliximab (10 mg/kg weekly, 4 doses) and daclizumab (1 mg/kg, days 1, 4, 8, 15, and 22) were given over 1 month. In case 1, grade 2 chronic GVHD of ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.20648
更新日期:2007-08-01 00:00:00
abstract::The Standards, Options, and Recommendations (SOR) project undertaken by the French National Federation of Cancer Centers (FNCLCC) to develop and disseminate clinical practice guidelines in oncology has now been taken over by the French National Cancer Institute. In 2007, the SOR updated the information related to the ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.21953
更新日期:2009-07-01 00:00:00
abstract::The fundamental purposes underlying formal health care transition from the pediatric to adult setting for young adult survivors of childhood cancer are to facilitate the continuous, medically and developmentally appropriate implementation of risk-based guidelines for the monitoring and management of late effects of ch...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.21455
更新日期:2008-05-01 00:00:00
abstract::Hospital-based home care (HBHC) is widely applied in Pediatric Oncology. We reviewed the potential effect of HBHC on children's physical health and risk of adverse events, parental and child satisfaction, quality of life of children and their parents, and costs. A search of PubMed, CINAHL, and EMBASE led to identifica...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.23047
更新日期:2011-09-01 00:00:00
abstract::Treatment recommendations for endemic Burkitt lymphoma (BL) in settings with only minimum requirements for curative treatment (PODC setting 1) are described. The reported cure rate for endemic BL is usually <50%. Facilities within setting 1 differ. Three treatment schedules are proposed based on: (1) when accurate sta...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引
doi:10.1002/pbc.24407
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Neuroblastoma is characterized by heterogeneity of histology, biology, and clinical behavior. Most epidemiology studies are based on Western and Japanese populations; there are very few studies on neuroblastoma from Southeast Asia. PROCEDURE:Cases of Thai children with neuroblastoma were retrospectively rev...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23325
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:The neurokinin-1 receptor antagonist aprepitant, plus a 5HT3 antagonist and corticosteroid is well-tolerated and effective in preventing chemotherapy-induced nausea and vomiting in adults but has not been formally assessed in adolescents. PROCEDURE:Patients age 11-19 years old receiving emetogenic chemother...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.21811
更新日期:2009-02-01 00:00:00
abstract:PURPOSE:NWTS-5 was a multi-institutional clinical trial for patients less than 16 years of age at diagnosis with specific renal neoplasms who were diagnosed between August 1, 1995 and May 31, 2002. A uniform approach to the treatment of patients with relapse was employed. PATIENTS AND METHODS:Seventy-two patients who ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.20822
更新日期:2007-05-01 00:00:00
abstract::Aciclovir prophylaxis was previously given to all immunocompromised patients treated by our unit, following contact with varicella zoster. In 2003, we changed practice according to National Guidelines, giving prophylaxis only to patients without serum varicella zoster immunoglobulin G antibody (VZ IgG) at diagnosis of...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21521
更新日期:2008-10-01 00:00:00
abstract::Efficacy of therapeutic strategies relative to patient- and family-centered outcomes in pediatric oncology must be assessed. We sought to identify outcomes important to children with acute myeloid leukemia and their families related to inpatient versus at-home management of neutropenia. We conducted qualitative interv...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.26927
更新日期:2018-04-01 00:00:00
abstract::This study describes hydroxyurea use among children ages 1 to 17 with sickle cell anemia (SCA) enrolled in at least one year of Medicaid in six states from 2005 to 2012. Administrative claims were used to summarize the number of days' supply of hydroxyurea dispensed by state and year. A total of 7963 children with SCA...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27721
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Tumor cells frequently contaminate autologous stem cell products in a variety of malignancies, but their clinical significance remains controversial. We retrospectively monitored tumor contamination in stem cell harvests from patients with Ewing family of tumors (EFT) all harboring the specific translocation...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20022
更新日期:2004-05-01 00:00:00
abstract:BACKGROUND AND AIM:We reviewed the results and pattern of failure of the consensus HB/HCC 1996 treatment protocol for pediatric hepatoblastoma (HB) in Hong Kong. The role of SIOPEL and Children's Hepatic tumors International Collaboration (CHIC) risk stratification was evaluated. METHODS:Patients enrolled on the proto...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27482
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Because of major improvements in treatment protocols, the survival rate now exceeds 80%. However, ALL treatments can cause long-term neurocognitive sequelae, which negatively impact academic achievement and quality of life. Therefore, ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.27259
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND:Systematic assessment of emotional distress is recommended in after care. Yet, it is unclear if parent report may be used as a proxy of child report. The aim of this study was to assess agreements and differences and explore possible moderators of disagreement between child and parent ratings. METHODS:Sixty...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.26840
更新日期:2018-02-01 00:00:00
abstract::High-risk (HR) acute lymphoblastic leukemia (ALL) remains one of the greatest challenges in pediatric oncology. Relapsed ALL is a leading cause of death in young people, and further improvements in outcome will required the development of therapeutic approaches directed against rational therapeutic targets, as escalat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.22996
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:The level of minimal residual disease (MRD) prior to allogeneic hematopoietic stem cell transplantation (HSCT) has been shown to be an independent prognostic factor for outcome of pediatric patients with high-risk acute lymphoblastic leukemia (ALL). Retrospective studies which used (semi-) quantitation of cl...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.20794
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:The combined inhibition of insulin-growth factor type 1 receptor (IGF-1R) and the mammalian target of rapamycin (mTOR) has shown activity in preclinical models of pediatric sarcoma and in adult sarcoma patients. We evaluated the activity of the anti-IGF-1R antibody cixutumumab with the mTOR inhibitor temsiro...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.25334
更新日期:2015-03-01 00:00:00
abstract::Hemophagocytic lymphohistioytosis (HLH) is a severe, life-threatening hyperinflammatory disorder that requires prompt diagnosis and treatment. Approximately, 25-50% of patients with HLH fail to achieve remission with established regimens that include dexamethasone and etoposide, or methylprednisolone and antithymocyte...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.26308
更新日期:2017-04-01 00:00:00
abstract:BACKGROUND:We sought to assess patterns of failure in pediatric patients with intracranial germ cell tumors (GCT) treated with intensity-modulated radiation therapy with dose painting (DP-IMRT). PROCEDURE:Between July 2007 and October 2013, 11 patients with localized GCT-five germinomas and six nongerminoma GCT (NGGCT...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25867
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND:The potential role of VEGF in osteosarcoma has been evaluated in several studies. The majority of them included heterogeneous and limited series of patients, giving conflicting results. The aim of presented study is to evaluate the prognostic role of VEGF-A in biopsy samples of clinically homogeneous group o...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23021
更新日期:2011-07-15 00:00:00
abstract::Children with sickle cell anemia (SCA) have low bone mass though bone turnover has not been well described. In this study, growth and pubertal development were assessed twice, 1 year apart, in 80 young subjects with type-SS SCA, while whole body bone mineral content (BMC) and density where measured in a subset (n = 46...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21147
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:Children treated with cranial radiotherapy (CRT) for leukemia are at risk of developing central nervous system injuries. Magnetic resonance imaging (MRI) represents the examination method of choice for evaluating radiation-induced brain complications. The purpose of this report is to describe the spectrum of...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22923
更新日期:2011-08-01 00:00:00
abstract:BACKGROUND:Previous studies of children with homozygous sickle cell anemia (SCA) show impaired growth and maturation. The correlation of this suboptimal growth with metabolic and hematological factors during puberty is poorly understood. PROCEDURE:We studied a group of pre-adolescent children with SCA (19 males, 14 fe...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22137
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:The clinical impact of influenza in children undergoing therapy for cancer is not well-described in the literature. PROCEDURE:Laboratory-documented influenza infection in pediatric oncology patients cared for in a single regional pediatric medical center between July 2000 and June 2005 was identified by rev...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.21472
更新日期:2008-05-01 00:00:00
abstract:BACKGROUND:Children with cancer experience a wide range of conditions that require urgent evaluation in the emergency department (ED), yet variation in admission rates is poorly documented. PROCEDURE:We performed a retrospective cohort study using the Pediatric Health Information System of ED encounters by children wi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28140
更新日期:2020-06-01 00:00:00
abstract::Global variations in the incidence of pediatric cancers have been described; however, the causes of such differences are not known. We investigated the relationship between the incidence of embryonal tumors and human development index on a global scale. Increasing incidence of neuroblastoma correlates significantly wi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26244
更新日期:2017-02-01 00:00:00
abstract::X-linked lymphoproliferative syndrome (XLP) is caused by mutations in SH2D1A, and is associated with overwhelming infectious mononucleosis, aplastic anemia, hypogammaglobulinemia, and B-cell lymphomas. However, the frequency of SH2D1A mutations in males who present with B NHL is unknown. Five cases of XLP were diagnos...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24525
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:The prognostic impact of central nervous system (CNS) involvement in children with acute myeloid leukemia (AML) has varied in past trials, and controversy exists over the degree of involvement requiring intensified CNS therapy. Two recent Children's Oncology Group protocols, AAML03P1 and AAML0531, directed a...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26612
更新日期:2017-12-01 00:00:00