Abstract:
:Chronic granulomatous disease (CGD) is a primary immunodeficiency that affects the oxidative mechanism of microbial killing of phagocytic cells. The defect is characterized by a lack or severely reduced superoxide anion (O2-) production by phagocytes. Seventy percent of CGD cases are X-linked (X-CGD) and they are caused by mutations in the gene encoding for gp91(phox), one of the two subunits of the flavocytochrome b558 of the NADPH oxidase. We identified an abnormal transcript arising from a novel splice site mutation within the gene encoding gp91(phox), which suggested that the mutation affected normal mRNA splicing. Thus, the effect of this mutation leads to the complete absence of the flavocytochrome b558 in neutrophil membranes, which caused the biochemical phenotype X91 degrees-CGD in this family. These molecular findings help to explain the early onset and severe phenotype in this X-CGD kindred.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Barese CN,Copelli SB,De Matteo E,Zandomeni R,Salgueiro F,Di Giovanni D,Heyworth P,Rivas EMdoi
10.1002/pbc.20204keywords:
subject
Has Abstractpub_date
2005-04-01 00:00:00pages
420-2issue
4eissn
1545-5009issn
1545-5017journal_volume
44pub_type
杂志文章abstract::Chronic lymphocytic leukemia/lymphoma (CLL) is an extremely rare disease during childhood. We report a 16-year-old female who presented with lymphadenopathies and she was diagnosed as T cell lymphoblastic lymphoma. Her chemotherapy response was minimal and clinical findings were unusual. Therefore, her biopsy specimen...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24865
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:The use of carboplatin for the treatment of pediatric low grade gliomas (PLGG) is often limited by the development of carboplatin hypersensitivity. Reported rates of carboplatin hypersensitivity reactions vary between 6% and 32% in these patients. Here we report the frequency of carboplatin hypersensitivity ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25686
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Neuroblastoma is the most common extracranial pediatric solid cancer. Lung metastasis is rarely detected in children with newly diagnosed neuroblastoma. We aimed to describe the incidence, clinical characteristics, and outcome of patients with lung metastasis at initial diagnosis using a large international ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21684
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:β-Thalassemia intermedia (β-TI) accounts for up to one-fourth of β-thalassemia patients. Evaluating and improving quality of life (QOL) should be a goal in β-TI follow-up and management strategies. Patients' perceptions of their illness and its treatment may impact their QOL. This study aimed to e...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
doi:10.1002/pbc.27735
更新日期:2019-07-01 00:00:00
abstract::We report two second malignant neoplasms (SMNs) of the parotid gland. Patient 1 was initially diagnosed with precursor B-cell lymphoblastic lymphoma of the scalp. Eight years after her initial diagnosis she presented with a small, painless mass in the region of her parotid gland. Patient 2 was diagnosed with pre-B-cel...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20306
更新日期:2005-12-01 00:00:00
abstract:BACKGROUND:Patients with relapsed or refractory Ewing sarcoma have a poor outcome with conventional therapies. Cytarabine decreases EWS/FLI1 protein levels in Ewing sarcoma cells and has demonstrated preclinical activity against Ewing sarcoma in vitro and in vivo. The purpose of this phase II clinical trial was to esti...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21822
更新日期:2009-03-01 00:00:00
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
pub_type: 杂志文章
doi:10.1002/pbc.20986
更新日期:2008-02-01 00:00:00
abstract:BACKGROUND:One of the most important adverse prognostic factors for adult renal cell carcinoma (RCC) is the retroperitoneal lymph node involvement. The aim of this article is to study the prognostic significance of local lymph node involvement in pediatric RCC and the role of retroperitoneal lymph node dissection (RLND...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21652
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:Osteopathy is one of the common initial symptoms of acute lymphocytic leukemia (ALL) in children and adolescents, but multiple osteolysis accompanied by hypercalcemia is rarely observed. PROCEDURE:We treated a 14-year-old female who had multiple osteolytic lesions and hypercalcemia at initial onset of ALL. ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.20357
更新日期:2005-09-01 00:00:00
abstract::Little information is available on cytogenetic abnormalities and their prognostic importance in childhood mature B-cell non-Hodgkin lymphoma (B-NHL). We performed a review of 79 abnormal karyotypes in childhood B-NHL treated by a uniform protocol. Del(17p) was independently associated with significantly inferior event...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.25482
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Conflicting data exist regarding whether low bone mineral density (BMD) is associated with Fanconi anemia (FA). The current study identified the frequency of low BMD in FA, expecting low BMD even in childhood and before HCT. PROCEDURE:Thirty-seven FA patients (18 prior HCT, 19 no prior HCT), participating i...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22956
更新日期:2011-12-01 00:00:00
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:PURPOSE:About one-third of patients with rhabdomyosarcoma relapse despite appropriate treatment and experience a poor outcome. Little meaningful improvement in the outcome of this disease has been observed over the last 30 years. There is no clear international recommendation concerning the use of salvage chemotherapy ...
journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pbc.25622
更新日期:2015-11-01 00:00:00
abstract::Hepatoblastoma (HB) and biliary atresia (BA) are both rare conditions that occurred in the patient described. This is the second such case in the literature. An explanation for this apparent coincidence could possibly be found in the existance of pluripotent liver stem cells. In humans, small epithelial cells (SEC) be...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20115
更新日期:2004-10-01 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: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
abstract:BACKGROUND:In Germany, about 1,800 new cases of pediatric cancer under 15 years of age are diagnosed each year and survival rates approach 80%. Although treatment is covered by health insurance and is thus available for all patients at no cost, treatment refusal and treatment discontinuation have been observed. However...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26111
更新日期:2016-10-01 00:00:00
abstract::A 12-year-old boy in third remission of an acute lymphoblastic leukaemia developed infection of lung and paranasal sinuses with Aspergillus flavus in neutropenia. Because of the high risk of leukaemia-relapse bone marrow transplantation (BMT) from a matched unrelated donor was carried out despite invasive pulmonary as...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20302
更新日期:2005-06-15 00:00:00
abstract:BACKGROUND:Previous studies have found that parents of children with cancer desire more prognostic information than is often given even when prognosis is poor. We explored in audio-recorded consultations the kinds of information they seek. METHODS:Ethnographic study including observation and audio recording of consult...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28802
更新日期:2021-03-01 00:00:00
abstract:BACKGROUND:Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal brain tumor that occurs mainly in early childhood. Although most of the tumors are characterized by inactivating mutations of the tumor suppressor gene, SMARCB1, the biological basis of its tumorigenesis and aggressiveness is still unkn...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26398
更新日期:2017-07-01 00:00:00
abstract:BACKGROUND:The hallmark of sickle cell disease (SCD) is recurrent, painful vaso-occlusive episodes (VOC) and is the most common reason for hospitalization in SCD patients. Narcotics, particularly morphine, along with fluid hydration are standard treatments for painful episodes but have been associated with the developm...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.20403
更新日期:2005-10-15 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::Diffuse intrinsic pontine glioma (DIPG) is characterized by a short history of brainstem symptoms and well-known magnetic resonance imaging features with a fatal outcome. However, we report three unusual cases of brainstem tumors with an initial indolent and protracted course, which subsequently developed the classica...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.28102
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND:The neurokinin-1 receptor antagonist aprepitant, plus a 5HT3 antagonist and corticosteroid is well-tolerated and effective in preventing chemotherapy-induced nausea and vomiting in adults but has not been formally assessed in adolescents. PROCEDURE:Patients age 11-19 years old receiving emetogenic chemother...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,随机对照试验
doi:10.1002/pbc.21811
更新日期:2009-02-01 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:BACKGROUND:Posterior fossa syndrome (PFS) is defined as the temporary and complete loss of speech after posterior fossa surgery. The goal of this study was to identify incidence and risk factors for PFS and to determine accompanying neurobehavioral and psychologic problems. PROCEDURE:Between May 2007 and April 2009, c...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.22730
更新日期:2011-02-01 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:While pediatric low-grade glioma/glioneuronal tumors (LGG/LGGNTs) are considered slow-growing, indolent tumors with excellent long-term prognosis, mortality due to the disease is not unknown. Few studies have addressed the cause of death in this population. METHODS:Retrospective review of clinicopathologic ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26717
更新日期:2018-01-01 00:00:00
abstract::We report successful bone marrow transplantation in an 11-year-old male with chronic myeloid leukemia from his HLA-identical sibling selected by preimplantation HLA testing. Because collection of cord blood failed, the transplantation was performed when the donor reached the age of 19 months, and sufficient bone marro...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.23007
更新日期:2011-08-01 00:00:00
abstract::The Standards, Options, and Recommendations (SOR) project undertaken by the French National Federation of Cancer Centers (FNCLCC) to develop and disseminate clinical practice guidelines in oncology has now been taken over by the French National Cancer Institute. In 2007, the SOR updated the information related to the ...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.21953
更新日期:2009-07-01 00:00:00