Abstract:
:We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD Cincinnati (c.1037A > T, p.N346I), found in combination with G6PD Gastonia (c.637G > T, p.V213L) in an infant who presented with neonatal cholestasis. The G6PD Cincinnati mutation results in a non-conservative amino acid substitution at the tetramer interface disturbing its formation, as seen by native gel electrophoresis and immunoblotting. G6PD Gastonia disrupts dimerization of the enzyme and by itself causes chronic non-spherocytic hemolytic anemia. The G6PD Cincinnati mutation may have aggravated the clinical picture of G6PD Gastonia with the result of severe perinatal hemolysis causing cholestasis and associated liver injury.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Mizukawa B,George A,Pushkaran S,Weckbach L,Kalinyak K,Heubi JE,Kalfa TAdoi
10.1002/pbc.22744subject
Has Abstractpub_date
2011-05-01 00:00:00pages
840-2issue
5eissn
1545-5009issn
1545-5017journal_volume
56pub_type
杂志文章abstract:BACKGROUND:Physical fitness is an important determinant of quality of life (QOL) after hematopoietic stem cell transplantation. Cardiac function can influence exercise performance. The aim of this study was to assess these factors and their interrelationship. PROCEDURE:Children underwent cardiopulmonary exercise testi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27499
更新日期:2019-01-01 00:00:00
abstract::Hepatoblastoma is a malignant pediatric liver tumor. The currently used diagnostic serum marker for hepatoblastoma, α-fetoprotein (AFP), is not always reliable in infants with hepatoblastoma, due to the physiologically elevated levels of AFP in this age group. In this report, we show that Delta-like 1 homolog (DLK1), ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24024
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND:Medication errors occur universally. Inappropriate administration of chemotherapy drugs can have adverse effects in cancer patients. Our objective was to assess the rate and type of medication errors in children with acute lymphoblastic leukemia (ALL) receiving oral chemotherapy in outpatient setting. PROCE...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25203
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Childhood cancer is relatively rare and tends to present specific age distribution, as a prognostic factor for some of these diseases. Information on how young age affects prognosis, response to chemotherapy, and local control options in children versus AYA with osteosarcoma (OST) is minimal. METHODS:In ord...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25459
更新日期:2015-07-01 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: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::Anaplastic oligodendroglioma (AO) is rare in children. Treatment typically consists of varying combinations of surgery, chemotherapy, and radiotherapy. We present a pediatric case of frontal lobe AO with periventricular subcallosal extension and local leptomeningeal involvement. The isocitrate dehydrogenase (IDH) wild...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.26708
更新日期:2017-12-01 00:00:00
abstract::Chronic granulomatous disease (CGD) is an immune deficiency characterized by defective neutrophil function and increased risk of life-threatening infections. Allogeneic hematopoietic cell transplantation is curative for CGD, and conditioning regimen impacts transplant-related outcomes. We report a single-center prospe...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.28030
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Clinical characteristics and optimal treatment strategies for spindle cell/sclerosing rhabdomyosarcoma (ssRMS) have not been well established because of its rarity. PROCEDURE:Retrospective re-evaluation of sarcoma specimens (1997-2014) identified 16 ssRMSs (median age 20 years, range 7-39 years). Clinicopat...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25367
更新日期:2015-06-01 00:00:00
abstract::Retrospective studies suggest that there is high mortality in children with sickle cell anemia (SCA) and severe malaria. We assessed mortality in Ugandan children with severe malarial anemia (SMA, n = 232) or cerebral malaria (CM, n = 267) by sickle cell hemoglobin genotype. Admission and 2-year follow-up mortality di...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26745
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:The Kids ITP Tools (KIT) is a disease-specific measure of health-related quality of life for children with immune thrombocytopenia (ITP). To facilitate use in international trials it has been cross-culturally adapted for France, Germany, the United Kingdom and Uruguay. This study assessed the validity and re...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24257
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:To develop an objective tool for assessing disease activity in patients with Langerhans cell histiocytosis (LCH). METHOD:Scoring system was developed and applied to a database containing information on 612 patients. RESULTS:At diagnosis, the score distribution was highly asymmetrical: the score was between ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20160
更新日期:2004-12-01 00:00:00
abstract:BACKGROUND:Approximately one-third of patients with osteosarcoma who have a complete response to their initial treatment can be expected to relapse. It is important to define what host, tumor, or treatment characteristics determine outcome after relapse. We present findings in 59 patients treated at our institution fro...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20580
更新日期:2006-09-01 00:00:00
abstract::Anaphylactic/anaphylactoid reaction to methotrexate (MTX) is uncommon. It may occur with the first dose (non-allergic reactions) or after a previous exposure to the drug (allergic or specific reactions). Desensitization has been shown effective in children with allergic-type reactions permitting the continuation of hi...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22616
更新日期:2010-09-01 00:00:00
abstract::During ALL chemotherapy, a 4-year-old patient presented with febrile neutropenia and abdominal pain. Ultrasound examinations were repeatedly normal. Computerized tomography on day 7 demonstrated appendicitis and multiple hepatic foci identified as mucormycosis (Absidia corymbifera). Successful outcome was achieved by ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21918
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Infection in neutropenic children is a major cause of morbidity and mortality in children treated for cancer. In developing countries, children with cancer are often malnourished at diagnosis. In Blantyre, Malawi, children with Burkitt lymphoma are treated with a local protocol with limited toxicity. The aim...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22032
更新日期:2009-07-01 00:00:00
abstract::Ovarian tumors have a low incidence in childhood, accounting for 1% of malignancies within the ages of 0-17 years. Small cell carcinoma of the ovary is a rare histology and historically has a poor prognosis. We report a case of an 11-year-old female diagnosed with small cell carcinoma of the ovary and hypercalcemia (S...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22184
更新日期:2009-12-15 00:00:00
abstract:BACKGROUND:Little is known about the visual outcome of children affected by an optic pathway glioma (OPG). PROCEDURES:We evaluated the long-term visual outcome of 32 consecutive children affected by OPG without neurofibromatosis type-1 referred to the Pediatric Department of Padua University and managed according to s...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.22748
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:An adapted LMB 96 derived protocol for B-cell non-Hodgkin lymphoma (NHL) was implemented at the pediatric oncology unit of the Children Welfare Teaching Hospital in Baghdad (Iraq) from 2000 to present. The purpose was to evaluate the feasibility and efficacy of this intensive therapeutic regimen in a limited...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22905
更新日期:2011-04-01 00:00:00
abstract::In this retrospective study of patients with overt orbital retinoblastoma, we evaluated minimally disseminated disease (MDD) in bone marrow and cerebrospinal fluid (CSF) using CRX and/or GD2 synthase as markers. Ten patients were evaluated-five (50%) at diagnosis and five upon relapse. MDD was detected in four cases (...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27662
更新日期:2019-06-01 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::To assess safety and tolerability, we administered valacyclovir, an oral anti-viral medication that inhibits erythrocyte sickling in vitro, to 14 subjects with sickle-cell anemia for 1 week at a standard dose of 1,000 mg every 8 hr. No clinically significant adverse effects occurred. In 11 subjects in steady state, th...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22809
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:The psychosocial outcomes of young adult survivors of childhood bone tumors are not well known. This study: (a) examined perceived social support (SS) and benefit-finding (BF) with respect to surgical intervention, gender, and age; (b) compared SS and psychological outcomes to normative values; and (c) exami...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24441
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Sickle cell disease (SCD) is an inherited blood disorder characterized by a chronic hemolytic anemia that can contribute to fatigue and global cognitive impairment in patients. The study objective was to report on the feasibility, reliability, and validity of the PedsQL™ Multidimensional Fatigue Scale in SCD...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
doi:10.1002/pbc.24776
更新日期:2014-01-01 00:00:00
abstract::Children with primary immunodeficiency or chromosomal breakage syndromes are at increased risk of developing non-Hodgkin lymphomas; they cannot tolerate standard chemotherapy regimens. We report two children with diffuse, large, B-cell lymphoma; one had ataxia telangiectasia and one had common variable immunodeficienc...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21808
更新日期:2009-05-01 00:00:00
abstract::Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of adrenal findings in BWS patients. The altered expression of the 11p15 region is lik...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.26432
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Radiation therapy (RT)-induced effects in children treated for low grade glioma (LGG) can result in worsening of neurologic symptoms and clinical and radiographic deterioration. Treatment for radiation-induced tumor enlargement is based on symptom control and usually involves steroids. PROCEDURE:We conducte...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25277
更新日期:2015-02-01 00:00:00
abstract::In Mexico, childhood cancer incidence and mortality have increased in the last decade. Through government actions since 2005, the Popular Medical Insurance (PMI) program for childhood cancer was created. The objective of PMI was to offer early cancer diagnosis, standardized treatment regimens, and numerous pediatric o...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.26366
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Acinic cell carcinoma (AciCC) is rare in children; therefore, reaching a consensus on its management is challenging and radiotherapy is limited by concerns about long-term toxicity. The purpose of this study is to analyze the effectiveness and safety of surgery plus postoperative 125 I interstitial brachythe...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28343
更新日期:2020-07-01 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