Abstract:
:Hereditary deficiency in human glucose-6-phosphate dehydrogenase (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. In 104 cases of Chinese children with G6PD deficiency, RT-PCR-DGGE (denaturing gradient gel electrophoresis) combined with DNA sequencing was carried out to screen the mutations within the coding region of G6PD gene. A novel missense mutation (G473A), predicting a Cys-to-Tyr substitution at codon 158, was identified in a male infant patient and confirmed in his mother. This G6PD variant (158 Tyr) showed decreased enzyme activity, belonging to WHO Class II. We designated this variant as G6PD Shenzhen by the birthplace of the propositus.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Chen X,Yue L,Li C,Li Cdoi
10.1002/pbc.22517subject
Has Abstractpub_date
2010-08-01 00:00:00pages
383-5issue
2eissn
1545-5009issn
1545-5017journal_volume
55pub_type
杂志文章abstract:BACKGROUND:Opioids are a cornerstone of palliation of pain. We sought to assess variation in opioid prescription during the last week of life among a cohort of pediatric oncology patients who died while hospitalized. PROCEDURE:We used detailed hospital administrative data from the Pediatric Health Information System (...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.21824
更新日期:2009-07-01 00:00:00
abstract::Spermatogonial stem cells open novel strategies for preservation of testicular tissue and fertility preservation in boys and men exposed to gonadotoxic therapies. This review provides an update on the physiology of spermatogonial stem cells in rodent and primate testes. Species-specific differences must be considered ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.22002
更新日期:2009-08-01 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:Hepatic sinusoidal obstruction syndrome (SOS) is a serious complication of autologous stem cell transplant (ASCT) in children with historically high mortality rates. Defibrotide has shown proven benefit in its treatment and may have a modest role in prevention. We report our experience with SOS in children u...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.28677
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Based on the presumed clinical similarity between the two most severe sickle cell disease (SCD) genotypes, hemoglobin (Hb) Sβ0 thalassemia and HbSS, randomized controlled trials (RCTs) have included both genotypes. Our group has demonstrated that healthcare providers inadequately distinguish the two diagnose...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27352
更新日期:2018-11-01 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:Adolescents with acute lymphoblastic leukaemia (ALL) have languished in the shadow of success of the outcome of therapy in childhood ALL. Their treatment has always been incorporated into either paediatric or adult clinical trials depending on the mode of referral and hence there is a need to address an age ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20749
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:Burnout is a work-related syndrome consisting of emotional exhaustion, depersonalization, and diminished feelings of personal accomplishment. Physicians who care for patients with life-threatening illnesses are at high risk for developing burnout. This survey evaluates the prevalence of burnout among pediatr...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23121
更新日期:2011-12-15 00:00:00
abstract::Peripheral neuropathy is a well-known side effect of vincristine, a micro-tubule inhibitor commonly used to treat malignancies. Severe neurologic adverse events can occur in patients with Charcot-Marie-Tooth disease (CMT) treated with vincristine. Voriconazole is an antifungal agent used increasingly in children with ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21786
更新日期:2009-02-01 00:00:00
abstract:BACKGROUND:Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might b...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27923
更新日期:2019-10-01 00:00:00
abstract::Familial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessive disorder of cytotoxic cell function that results in abnormal proliferation of benign lymphocytes and histiocytes in response to infectious stimuli. FHLH generally occurs in very young children, and typically presents with fever, cytopenias, c...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21438
更新日期:2008-05-01 00:00:00
abstract:OBJECTIVE:To examine the level of children's understanding of informed consent in clinical trials and factors that may influence these processes. DESIGN:Twenty nine children who were included in clinical trials for treatment of cancer or HIV, were offered the possibility to complete a semidirective interview, with par...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.21359
更新日期:2008-05-01 00:00:00
abstract::Thrombocytopenia and autoimmune hemolytic anemia (Evans syndrome) with the presence of both warm and cold autoantibodies (mixed type) are rare in the pediatric age group. This condition may be associated with other autoimmune disorders and is notoriously difficult to treat. This case describes an adolescent male who p...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20312
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:Ensuring adequate parental consent is a key issue of ethical practice in pediatric oncology. In Germany, however, knowledge about parental comprehension and satisfaction with the informed consent procedure is limited, and representative data on parents' perspectives are still missing. Based on data collected...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24330
更新日期:2013-03-01 00:00:00
abstract::Family financial hardship has emerged as a burden of pediatric cancer treatment with negative implications for family well-being. As part of an extensive project to create evidence-based standards for the psychosocial care of children with cancer, we performed a literature review of pediatric cancer-associated financi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.25714
更新日期:2015-12-01 00:00:00
abstract::A 17-year-old girl with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with persistent minimal residual disease (MRD) who underwent standard chemotherapy was found to have a BCR-ABL1-like gene expression pattern. Genome sequencing revealed a JAK2 mutation not previously described in BCP-ALL and a potential th...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26328
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:PG11047 is a novel conformationally restricted analog of the natural polyamine, spermine that lowers cellular endogenous polyamine levels and competitively inhibits natural polyamine functions leading to cancer cell growth inhibition. The activity of PG11047 was evaluated against the PPTP's in vitro and in v...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22797
更新日期:2011-08-01 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::Obesity is increasing in prevalence in the United States with over 65% of adults considered overweight and 16% of children with BMI > 95 percentile. The heritability of obesity is estimated between 40% and 70%, but the genetics of obesity for most individuals are complex and involve the interaction of multiple genes a...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23372
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Although intra-retinal tumor has long been staged presurgically according to the Reese-Ellsworth (R-E) system, retinoblastoma differs from other pediatric neoplasms in never having had a widely accepted classification system that encompasses the entire spectrum of the disease. Comparisons among studies that ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.20606
更新日期:2006-11-01 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:Extracranial malignant rhabdoid tumor (MRT) is a rare pediatric cancer with a poor prognosis. The kidney is the most common site. Isolated reports have shown improvements in patient survival, but no specific treatment regimen has shown efficacy over others. PROCEDURE:Retrospective review of patients diagnos...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.25093
更新日期:2014-08-01 00:00:00
abstract::This review of the experience of high dose chemotherapy in patients with recurrent or refractory intracranial germ cell tumor confirms that sustained tumor control can be achieved with this modality both in germinoma and non-germinomatous germ cell tumors. Data from cooperative groups in Europe and North America sugge...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.22376
更新日期:2010-04-01 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::Unstable hemoglobin variants represent a rare etiology of congenital hemolytic anemia. Without a high index of suspicion, plus proper laboratory testing and interpretation, the correct diagnosis can be elusive. We report on five children who were initially thought to have other congenital disorders such as hereditary ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22702
更新日期:2010-12-15 00:00:00
abstract:BACKGROUND:Dexamethasone is more efficacious than prednisone in the treatment of acute lymphoblastic leukemia (ALL), but has also been associated with greater toxicity. We compared neuropsychological outcomes for patients treated on DFCI ALL Consortium Protocol 00-01, which included a randomized comparison of the two s...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.24666
更新日期:2013-11-01 00:00:00
abstract::Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal stem cell disorder. Eculizumab and bone marrow transplantation are disease-modifying treatments for PNH but may not be readily available in resource-constrained settings. Of 52 pediatric patients with PNH, 20 had classical PNH and 32 had PNH/aplastic ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27712
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:MOPP (mechlorethamine, vincristine, procarbazine, prednisone) and ABVD (doxorubicin, bleomycin, vinblastine, and dacarbazine) are effective therapies for Hodgkin disease (HD) that may cause long-term toxicities in children. APE (cytosine arabinoside, cisplatin, etoposide) is a non-cross-resistant regimen wit...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20563
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Severe pandemic influenza A (H1N1) infection can lead to acute respiratory failure (ARF) with associated high mortality. Children with malignancy may be at higher risk of H1N1-associated ARF because of underlying primary disease or immunosuppression associated with chemotherapy. PROCEDURE:We describe the cl...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22973
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:Ultrasound-guided (USG) cannulation of the brachiocephalic vein (BCV) is gaining worldwide consensus for central venous access in children. This study reports a 20-month experience with this approach in children. METHODS:All patients who underwent percutaneous USG central venous catheter (CVC) positioning i...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26202
更新日期:2017-02-01 00:00:00