Abstract:
:MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (-7/7q-) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro, leading to characteristic clinical features as well as to the coexistence of cells with monosomy 7 (20%) and with uniparental disomy of long arm of chromosome 7 (UPD7q). In contrast to previously reported MIRAGE patients with -7/7q- developing MDS, our patient achieved complete cytogenetic remission of monosomy 7. As UPD7q remained unchanged, it seems to be a protective factor against MDS.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Csillag B,Ilencikova D,Meissl M,Webersinke G,Laccone F,Narumi S,Haas O,Duba HCdoi
10.1002/pbc.27589subject
Has Abstractpub_date
2019-04-01 00:00:00pages
e27589issue
4eissn
1545-5009issn
1545-5017journal_volume
66pub_type
杂志文章abstract:PURPOSE:Research using banked tissue is key to advancing risk-stratification and treatment of children with cancer. Knowledge of parental attitudes to ethical issues arising in tissue banking is very limited but essential in obtaining respectful consent. METHODS:One hundred parents of consecutively diagnosed children ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22716
更新日期:2011-12-15 00:00:00
abstract::A 4-year-old male presented with rapid-onset cranial nerve palsy and ataxia. Brain magnetic resonance imaging (MRI) revealed a pontine mass lesion with discordant conventional and advanced imaging. A stereotactic core biopsy revealed glioblastoma with immunostaining suggestive of histone H3K27M and TP53 mutation, cons...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26416
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:The purpose of this study was to determine the prevalence of pulmonary dysfunction in pediatric hematopoietic cell transplant (HCT) survivors and to identify associated risk factors. PROCEDURE:In a cross-sectional study, patients surviving at least 5 years after pediatric HCT were requested to undergo pulmo...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20531
更新日期:2006-10-15 00:00:00
abstract:BACKGROUND:Griscelli syndrome type 2 (GS2), the X-linked lymphoproliferative (XLP) and the Chédiak-Higashi (CHS) syndromes are diseases that all may develop hemophagocytic syndromes. We wanted to investigate whether the treatment protocols for hemophagocytic lymphohistiocytosis (HLH) can also be used for these syndrome...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21790
更新日期:2009-02-01 00:00:00
abstract::Epidural spinal cord compression as the initial presentation of acute lymphoblastic leukemia (ALL) is a rare and serious complication. Extramedullary disease is rarely reported in patients with ALL. The most common sites are bone, followed by soft tissue, skin and lymph nodes. We describe a child with common B-lineage...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22682
更新日期:2010-10-01 00:00:00
abstract:INTRODUCTION:The National Heart, Lung, and Blood Institute guidelines for sickle cell disease (SCD) pain crisis management recommend opioids within 60 minutes of emergency department (ED) registration and every 30 minutes thereafter until acute pain is managed. These guidelines are based on expert opinion without publi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28268
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Children less than 5 years of age with malignant central nervous system (CNS) tumors, continue to have a high rate of morbidity and mortality following administration of conventional therapy. In an attempt to avoid the neurologic sequelae associated with craniospinal radiation, strategies such as high-dose c...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21381
更新日期:2008-05-01 00:00:00
abstract:BACKGROUND:Neuroblastoma (NB) is the most common solid extracranial tumor in childhood. Despite advances in therapy, the prognosis is poor and optimized therapies are urgently needed. Therefore, we investigated the antitumor potential of interleukin-15 (IL-15)-activated cytokine-induced killer (CIK) cells against diffe...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26147
更新日期:2016-12-01 00:00:00
abstract::Congenital hypotransferrinemia (OMIM 209300) is an extremely rare disorder of inherited iron metabolism. Since its description in 1961, only 16 cases have been reported. The defective gene and molecular defect causing this disorder and clinicolaboratory findings seen in the homozygous and heterozygous states have been...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26789
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy associated with morbidity and mortality. We sought to understand family planning intentions of parents of young children with SCD including the awareness of three reproductive options (adoption, in vitro fertilization with egg/sperm donatio...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28227
更新日期:2020-05-01 00:00:00
abstract::We present three pediatric patients with BRAFV600E mutant high-grade gliomas treated by vemurafenib on a nominative authorization level at our institution. One patient with anaplastic ganglioglioma experienced confirmed partial tumor response and significant clinical improvement and she is alive 20 months after start ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24891
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:Parents and physicians may have different understandings of a child's risk of future limitations due to cancer or cancer treatment. We evaluated alignment between parent- and physician-estimated risk of late effects. METHODS:We surveyed 352 parents of children with cancer within 12 weeks of diagnosis, and t...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27020
更新日期:2018-07-01 00:00:00
abstract:BACKGROUND:Thrombosis in neonates is a rare but serious occurrence, usually associated with central catheterization. The objective of this study was to investigate the risk factors associated with catheter related thrombosis in very low birth weight (VLBW) infants. PROCEDURE:The present retrospective study was perform...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21714
更新日期:2009-01-01 00:00:00
abstract::Treatment with the nucleoside analog cytarabine has been shown to mimic changes in gene expression associated with downregulation of the EWS-FLI1 oncogene in Ewing sarcoma cell lines, selectively inhibit their growth in vitro, and cause tumor regression in athymic nude mice. For this report cytarabine was studied in v...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22355
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Hepatic veno-occlusive disease (VOD) is one of the most serious complications in stem cell transplantation (SCT). Although plasma protein C activity decreases in VOD after SCT, the timeframe of plasma protein C activity decreases during SCT is not known. PROCEDURE:We examined levels of plasma protein C seri...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22314
更新日期:2010-03-01 00:00:00
abstract:INTRODUCTION:Understanding factors that affect the decisions of caregivers of African children to enroll their children in clinical trials would lead to more fully informed consent. METHODS:During the NOHARM study (NCT01976416), a placebo-controlled clinical trial of hydroxyurea for Ugandan children with sickle cell a...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27830
更新日期:2020-02-01 00:00:00
abstract::Langerhans cell histiocytosis is known to mimic many other conditions. We present two patients where anti-tubercular therapy was instituted when clinical and radiological features suggested tuberculosis. The correct diagnosis of histiocytosis was reached only on further work-up including immunohistochemistry following...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21930
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Malignant ectomesenchymoma (MEM) is a soft tissue tumor with heterologous rhabdomyoblastic components believed to arise from pluripotent migratory neural crest cells. To date merely 50 cases have been published and the knowledge about the course of disease and optimal treatment is limited. METHODS:Six patie...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24174
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Central venous catheters (CVC) facilitate the management of patients with cancer. Optimal timing for placement of a CVC is controversial. We sought to determine whether early placement in children with acute lymphoblastic leukemia (ALL), a group at high risk for infection and thrombosis, was associated with ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24010
更新日期:2012-04-01 00:00:00
abstract::Data on prognostic factors in pelvic PNET are minimal. We analyzed patients with pelvic PNET treated between June 2003 and November 2011 for prognostic factors. Forty-eight (13%) of 374 patients with PNET were pelvic PNET with median age 14.5 years (range: 5-33); 31 (65%) had metastases. After median follow-up of 20.4...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.24552
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:The role of local analgesics for lumbar punctures (LPs) in pediatric oncology patients has not been specifically studied. AIM:To compare the efficacy of eutectic mixture of local anesthetics (EMLA) cream to 1% lidocaine injection for LPs. METHOD:This was a retrospective observational study of all patients ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27957
更新日期:2019-11-01 00:00:00
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) m...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26571
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:The DNA methylating agent temozolomide was developed primarily for treatment of glioblastoma. However, preclinical data have suggested a broader application for treatment of childhood cancer. Temozolomide was tested against the PPTP solid tumor and ALL models. PROCEDURES:Temozolomide was tested against the ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24368
更新日期:2013-05-01 00:00:00
abstract:BACKGROUND:Positron emission tomography (PET) and gallium scans facilitate diagnosis and staging, evaluation of response to therapy, and monitoring for relapse in Hodgkin lymphoma (HL), but have not been compared in pediatric HL. PROCEDURE:We performed concurrent PET and gallium scans on 44 pediatric HL patients at di...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21574
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:Pulmonary hypertension (PHTN) is a potentially life-threatening complication, detected by echocardiographic evidence of elevated tricuspid regurgitant velocity (TRV). This condition has been described in adults with sickle cell disease (SCD) and other hemolytic disorders; however, there is little information...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20791
更新日期:2006-12-01 00:00:00
abstract:OBJECTIVE:A National Thalassemia Screening Program was adopted in Taiwan in 1993. This report examined that program's results and impact. METHODS:Patients with beta-thalassemia major born between 1994 and 2003 were recruited through the help of all thalassemia clinics in Taiwan. A structured questionnaire was designed...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21185
更新日期:2008-01-01 00:00:00
abstract::Limited high-quality evidence supports the management of iron deficiency anemia (IDA). To assess our institutional performance in this area, we retrospectively reviewed IDA treatment practices in 195 consecutive children referred to our center from 2006 to mid-2010. The majority of children were ≤4 years old (64%) and...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25861
更新日期:2016-04-01 00:00:00
abstract::The Children's Oncology Group (COG) is a multi-institutional cooperative group dedicated to childhood cancer research that has helped to increase the survival of children with cancer through clinical trials. These clinical trials include a standardized regimen of imaging examinations performed prior to, during, and fo...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引
doi:10.1002/pbc.21596
更新日期:2008-08-01 00:00:00
abstract::The provision of tele-practice symptom management is often without the provision of evidence-based guidelines. Under the auspices of the Pediatric Oncology Group of Ontario, a nursing task force was established to appraise the evidence and develop guidelines. Promising new efforts to enhance symptom management through...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引,评审
doi:10.1002/pbc.22993
更新日期:2011-10-01 00:00:00
abstract::There is growing evidence that some chronic diseases are caused, or promoted, by infectious disease. 'Population mixing' has been used as a proxy for the range and dose of infectious agents circulating in a community. Given the speculation over the role of population mixing in many chronic diseases, we review the vari...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.21570
更新日期:2008-08-01 00:00:00