Abstract:
:Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, presumed to be causative. This report presents the variability of the clinical manifestations and evolution of PN and emphasizes the importance of studying other patients with PN to better delineate mutations profile among populations.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Sakka R,Mahjoub B,Kerkeni E,Werdani A,Boussoffara R,Ben Cheikh H,M'rad R,Sfar MTdoi
10.1002/pbc.27262subject
Has Abstractpub_date
2018-09-01 00:00:00pages
e27262issue
9eissn
1545-5009issn
1545-5017journal_volume
65pub_type
杂志文章abstract::Granulocytic sarcoma (GS) is a localized tumor composed of immature myeloid cells. This extramedullary tumor can present before, concurrent with or after the diagnosis of acute myeloid leukemia. GS is extremely uncommon in acute promyelocytic leukemia (APL). As a proportion of patients never develop systemic disease, ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21190
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abstract::Poverty is an important patient-reported outcome of therapy and a potential predictor of outcome disparities in pediatric cancer. We previously identified that nearly 30% of pediatric cancer families experience household material hardship (HMH), a concrete measure of poverty including food, energy, or housing insecuri...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
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abstract::Evidence of the laboratory benefits of hydroxyurea and its clinical efficacy in reducing acute vaso-occlusive events in adults and children with sickle cell anemia has accumulated for more than 15 years. A definitive clinical trial showing that hydroxyurea can also prevent organ damage might support widespread use of ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
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更新日期:2010-02-01 00:00:00
abstract::Myasthenia gravis is among the rare complications after allogeneic hematopoietic stem cell transplantation and is usually associated with chronic GVHD. Herein, we report a 2-year and 10 months of age female with Griscelli syndrome, who developed severe myasthenia gravis at post-transplant +22nd month and required resp...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24799
更新日期:2014-05-01 00:00:00
abstract::Although investigators have been engaged in the study of human energy metabolism for over 100 years, there remain unanswered questions regarding the role that energy expenditure plays in human health and disease. A critical examination of available methods for measurement of the various components of daily energy expe...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23369
更新日期:2012-01-01 00:00:00
abstract::Post-transplant lymphoproliferative disease (PTLPD), due to the reactivation of Epstein-Barr virus (EBV), is a serious complication. The risk of the disorder increases with T-cell depletion methods, mismatched hematopoietic stem cell transplantation (HSCT), graft-versus-host disease (GVHD), and immunosuppression. In c...
journal_title:Pediatric blood & cancer
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doi:10.1002/pbc.20710
更新日期:2007-11-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25019
更新日期:2014-08-01 00:00:00
abstract:PURPOSE:Chemotherapy during radiation and/or bone-seeking radioisotope therapy (153-samarium; 1 mCi/kg) during radiation may improve osteosarcoma cancer control. PATIENTS AND METHODS:We analyzed our preliminary radiation experience in high-risk, metastatic, and/or recurrent patients during a consecutive period of 20 m...
journal_title:Pediatric blood & cancer
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doi:10.1002/pbc.21451
更新日期:2008-05-01 00:00:00
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journal_title:Pediatric blood & cancer
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doi:10.1002/pbc.10401
更新日期:2004-02-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
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journal_title:Pediatric blood & cancer
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更新日期:2016-03-01 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
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journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.22227
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:Progressive/recurrent high-grade and diffuse intrinsic pontine gliomas (DIPGs) are fatal. Treatments targeting molecular pathways critical for these cancers are needed. METHODS:We conducted a phase 1 study (rolling-six design) to establish the safety and maximum tolerated dose (MTD) of dasatinib, an oral pl...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.27035
更新日期:2018-07-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28040
更新日期:2020-01-01 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:MYCN amplification marks poor prognosis in neuroblastoma (NB) tumors. In evaluating the mechanisms by which retinoic acid (RA) or nerve growth factor (NGF) decrease cell number in MYCN amplified NB cells, we have identified a number of proteins whose expression either decreases (E2F, CDC2, CDK6, cyclin depen...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21195
更新日期:2008-02-01 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:BACKGROUND:Ewing sarcoma of the thoracic spine and chest wall is frequently treated with concurrent chemotherapy and radiation therapy (RT). Treatment-related acute esophagitis can lead to hospitalization and treatment delays. The aim of this study was to analyze the incidence, risk factors, and management of esophagit...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
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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
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更新日期:2008-05-01 00:00:00
abstract:BACKGROUND:To evaluate outcomes of Group D eyes of bilateral retinoblastoma patients treated with primary chemoreduction and external beam radiation as salvage. PROCEDURE:Retrospective chart review of patients diagnosed with bilateral retinoblastoma and designated Group D in at least one eye from January 1, 2000 to De...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24303
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abstract::Children suffering from Acute Lymphoblastic Leukaemia (ALL) treated with asparaginase and corticosteroids are at risk of developing severe lipid abnormalities. The authors report the case of a 10-year-old male with extremely high plasma triglyceride concentrations (4,000 mg/dl) during the induction phase of ALL associ...
journal_title:Pediatric blood & cancer
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更新日期:2008-02-01 00:00:00
abstract:BACKGROUND:This study evaluated the outcome of retinoblastoma patients, when employing a telemedicine-based twinning program in Jordan. PROCEDURE:This cohort study included patients at the King Hussein Cancer Centre (KHCC; Amman, Jordan) who received consultations for retinoblastoma from March 2003 to September 2006. ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21489
更新日期:2008-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
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更新日期:2017-12-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21465
更新日期:2008-07-01 00:00:00
abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms have been implicated in childhood acute lymphoblastic leukemia (ALL) risk, but previously published studies were inconsistent and recent meta-analyses were not adequate. PROCEDURES:In a meta-analysis of 21 publications with 4,706 cas...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,meta分析,评审
doi:10.1002/pbc.23137
更新日期:2012-04-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,多中心研究
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更新日期:2018-01-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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更新日期:2014-02-01 00:00:00
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journal_title:Pediatric blood & cancer
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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更新日期:2010-03-01 00:00:00