Abstract:
:Phytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in ABCG5 and ABCG8 genes. A 9-year-old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of ABCG5 and ABCG8 genes revealed a novel homozygous IVS10-1 G>T mutation in ABCG5 gene. Four of the 13 family members had xanthoma but they had neither hematologic abnormalities nor IVS10-1 G>T mutation. Ezetimibe therapy reduced plant sterol levels in association with marked clinical improvement. Plant sterol levels and ABCG5/ABCG8 genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Kaya Z,Niu DM,Yorulmaz A,Tekin A,Gürsel Tdoi
10.1002/pbc.24934subject
Has Abstractpub_date
2014-08-01 00:00:00pages
1457-9issue
8eissn
1545-5009issn
1545-5017journal_volume
61pub_type
杂志文章abstract:BACKGROUND:Abandonment of treatment is one of the toughest challenges to deal with in pediatric oncology. It leads to unnecessary mortality and morbidity in patients from low- and middle-income countries. PROCEDURE:The objective of our retrospective study was to determine the prevalence and predictors for abandonment ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26818
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:Pediatric papillary thyroid carcinoma (PTC) is clinically and biologically distinct from adult PTC. We sequenced a cohort of clinically annotated pediatric PTC cases enriched for high-risk tumors to identify genetic alterations of relevance for diagnosis and therapy. METHODS:Tumor DNA and RNA were extracted...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28741
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Cancer among infants (<1 year old) has unique epidemiologic, clinical, and genetic characteristics compared with cancer in older children. Nonetheless, data on secular trends in infant cancer incidence and survival in the United States is sparse. METHODS:Population-based data from nine areas of the Surveill...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28917
更新日期:2021-01-20 00:00:00
abstract:BACKGROUND:Anthracycline agents are used for treatment of acute myeloid leukemia (AML) but may cause late-onset cardiomyopathy. Current frontline therapy for AML in North America, as reflected in the approach of the Children's Oncology Group (COG) and other pediatric consortia, is adapted from the anthracyline-intensiv...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.24498
更新日期:2013-09-01 00:00:00
abstract::Children with cancer and their families experience shifts in spiritual wellness from diagnosis through treatment and survivorship or bereavement. An interdisciplinary team conducted a systematic review of quantitative and qualitative research on spiritual assessments, interventions, and outcomes in childhood cancer fo...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27764
更新日期:2019-09-01 00:00:00
abstract::This is the case report of a 14-year young female who was diagnosed with solitary bone plasmacytoma (SBP) of proximal tibia and was treated by local involved field radiotherapy. We present the clinical, radiological and pathological findings of the case and review of the available treatment options and prognosis of th...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22687
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Outcomes for patients with oncologic disease and/or after hematopoietic stem cell transplant (HSCT) requiring intensive care unit admission have improved, but indications for and outcomes after extracorporeal membrane oxygenation (ECMO) support in this population are poorly characterized. PROCEDURE:We analy...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.28403
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Hematopoietic stem cell transplant (HSCT) can cure or alleviate a wide range of nonmalignant childhood conditions. However, few studies have examined longitudinal national trends of frequency or short-term complications of HSCT before 2006 when an HSCT became a reportable procedure by US law. By using a US n...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27626
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Sickle cell anaemia (SCA) is the leading genetic disorder in Nigeria. Elevated velocities ≥170 cm/sec occur in about a third of Nigerian children with SCA. Chronic blood transfusion for stroke prevention is faced with a myriad of challenges in our practice. OBJECTIVES:To evaluate the effectiveness of hydrox...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25529
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:Current guidelines recommend high-priority treatment of severe sickle cell disease (SCD) pain with opioids; however, patients with SCD have historically been undertreated. We used mixed methods to assess pediatric residents' perceptions toward opioid use in SCD pain management. METHODS:We distributed a surve...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27535
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Pediatric oncology patients with tunneled central venous catheters (CVCs) are at increased risk to develop venous thromboembolic events (VTEs), but the true prevalence of (a)symptomatic VTE is unknown. Aim of this study was to evaluate the prevalence of (a)symptomatic VTE in pediatric oncology patients with ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/pbc.26036
更新日期:2016-08-01 00:00:00
abstract:BACKGROUND:Fever in severe chemotherapy-induced neutropenia (FN) is the most frequent manifestation of a potentially lethal complication of current intensive chemotherapy regimens. This study aimed at establishing models predicting the risk of FN, and of FN with bacteremia, in pediatric cancer patients. METHODS:In a s...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21726
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:While adolescents and adults with sickle cell disease (SCD) have reported using religion to cope with SCD, there is no data examining religious coping in young children with SCD. The purpose of this qualitative study was to: (1) describe the types of religious coping used by children with SCD; (2) describe t...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23038
更新日期:2012-02-01 00:00:00
abstract:BACKGROUND:Thiotepa and carboplatin are known to be active in central nervous system tumors. Topotecan potentiates the anti-cancer effects of alkylators and crosses the blood-brain barrier. We present ten patients with recurrent or progressive central nervous system malignancies treated on a myeloablative regimen using...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.22347
更新日期:2010-04-01 00:00:00
abstract:BACKGROUND:Medulloblastoma is an infratentorial primitive neuroectodermal tumour, diagnosed in paediatric population. The radiotherapy is an essential method of treatment for these tumours. The impact of technical quality of radiation therapy on survival was recently considered. In this study treatment-related variable...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.10401
更新日期:2004-02-01 00:00:00
abstract:BACKGROUND:Low expression of HLA class II antigens has been associated with more aggressive disease in several human malignancies including adult adrenocortical tumors (ACT), but their clinical relevance in pediatric ACT needs to be investigated. PROCEDURE:This study analyzed the expression profile of three class II h...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25118
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:Children with sickle cell disease (SCD) and abnormal transcranial Doppler (TCD) ultrasonography have a high risk of stroke, but this risk is greatly reduced when chronic transfusion therapy is administered. The change in TCD velocities during chronic transfusion therapy and rate and frequency of normalizatio...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22951
更新日期:2011-05-01 00:00:00
abstract::Severe congenital neutropenia (SCN) is a bone marrow failure disease with an autosomal dominant inheritance from mutations in ELANE. Here, we report a 7-week-old Korean male with SCN. His elder sister died from pneumonia at 2 years. Direct sequencing of ELANE in the proband identified a heterozygous novel frameshift m...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25654
更新日期:2015-12-01 00:00:00
abstract:BACKGROUND:The objective was to investigate factors associated with patient-related timing (PRT) to seek healthcare and health service-related timing (HSRT) to diagnose cancer and provide treatment to children without social security in Mexico. PROCEDURE:A cross-sectional survey was conducted in 13 Ministry of Health ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28331
更新日期:2020-09-01 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::Children with cancer are at risk of malnutrition, which can impair critical childhood processes of growth and development and contribute to poor health outcomes. Enteral nutrition can effectively ameliorate malnutrition or weight loss in children with cancer; however, published nutrition support algorithms contain min...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27702
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:Malignant peripheral nerve sheath tumor (MPNST) is an aggressive form of soft-tissue sarcoma (STS) in children. Despite intensive therapy, relatively few children with metastatic and unresectable disease survive beyond three years. RAS pathway activation is common in MPNST, suggesting MEK pathway inhibition ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28639
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:Retinoblastoma occurs in approximately 4 per million children per year in the United States, usually before 2 years of age. In developed countries, 95% of children with tumor in one eye can be cured with enucleation, while children with tumor in both eyes require individualized therapy to preserve vision. Al...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21155
更新日期:2008-02-01 00:00:00
abstract::Congenital amegakaryocytic thrombocytopenia (CAMT) is characterised by neonatal thrombocytopenia, with reduced or absent bone marrow megakaryocytes, leading eventually to pancytopenia. The mean age for progression to bone marrow failure is four years, with the earliest reported being six months. We describe a CAMT pat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24566
更新日期:2013-09-01 00:00:00
abstract::Hemorrhagic cystitis (HC) is a common complication after stem cell transplantation (SCT) that occurs more frequently in patients with Fanconi anemia (FA) because of hypersensitivity of their cells to the agents used in the preparation for SCT (chemo and radiation). Many HC cases respond to therapy with hyperhydration ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20692
更新日期:2007-11-01 00:00:00
abstract::Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. CAMT is one of the bone marrow failure syndromes, and the disease progression may involve other lineages leading to pancytopenia. The genetic background of CAMT ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22842
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Sorafenib is an inhibitor of multiple kinases (e.g., VEGF receptors, PDGFR, FLT3, RET, BRAF, KIT) and is approved by FDA for treatment of two adult cancers. The activity of sorafenib was evaluated against the PPTP's in vitro and in vivo panels. PROCEDURES:Sorafenib was evaluated against the PPTP in vitro pa...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22712
更新日期:2010-12-01 00:00:00
abstract::Ameloblastic fibro-odontosarcoma (AFOS) is an extremely rare malignant odontogenic tumor. Complete surgical excision is the treatment of choice. Deaths due to disease recurrence and/or progression are documented. Here, we report the case of a 15-year-old female with multiple recurrent AFOS. She responded to chemothera...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25627
更新日期:2015-11-01 00:00:00
abstract::Squamous cell carcinoma of the anal canal in children is rare. To date, the etiology and outcome of this condition have been not fully understood. Here, we report an 11-year-old child with anal canal cancer who had concomitant disorders of sex development. Radiotherapy followed by salvage surgery achieved disease-free...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25988
更新日期:2016-07-01 00:00:00
abstract:BACKGROUND:Undernutrition impacts clinical outcome adversely in children with cancer. This study aimed to validate a nutritional algorithm with specific application to the low- and middle-income country (LMIC) setting. PROCEDURE:Fifty children with a new diagnosis of cancer were enrolled in this randomized interventio...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.27980
更新日期:2019-12-01 00:00:00