Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).


BACKGROUND:Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied patients in the DBA Registry (DBAR) of North America to assess the prevalence of various endocrinopathies. PROCEDURE:In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1-39 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid-dependent, and seven in remission. Data were collected on anthropometric measurements, systematic screening of pituitary, thyroid, parathyroid, adrenal, pancreatic, and gonadal function, and ferritin levels. Descriptive statistics were tabulated and group differences were assessed. RESULTS:Fifty-three percent of patients had ≥ 1 endocrine disorder, including adrenal insufficiency (32%), hypogonadism (29%), hypothyroidism (14%), growth hormone dysfunction (7%), diabetes mellitus (2%), and/or diabetes insipidus (2%). Ten of the 33 patients with available heights had height standard deviation less than -2. Low 25-hydroxy vitamin D (25(OH)D) levels were present in 50%. A small proportion also had osteopenia, osteoporosis, or hypercalciuria. Most with adrenal insufficiency were glucocorticoid dependent; other endocrinopathies were more common in chronically transfused patients. CONCLUSIONS:Endocrine dysfunction is common in DBA, as early as the teenage years. Although prevalence is highest in transfused patients, patients taking glucocorticoids or in remission also have endocrine dysfunction. Longitudinal studies are needed to better understand the etiology and true prevalence of these disorders.


Pediatr Blood Cancer


Pediatric blood & cancer


Lahoti A,Harris YT,Speiser PW,Atsidaftos E,Lipton JM,Vlachos A




Has Abstract


2016-02-01 00:00:00












  • Aerosol interleukin-2 induces natural killer cell proliferation in the lung and combination therapy improves the survival of mice with osteosarcoma lung metastasis.

    abstract:BACKGROUND:We have previously shown that aerosol interleukin-2 (IL-2) increased the number of intravenously injected human natural killer (NK) cells in the lungs. In this study we investigated whether this increase was secondary to NK cell proliferation and determined the site of the proliferation. MATERIALS AND METHO...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Guma SR,Lee DA,Ling Y,Gordon N,Kleinerman ES

    更新日期:2014-08-01 00:00:00

  • Predictors for neonatal thrombocytopenia in infants of thrombocytopenic mothers during pregnancy.

    abstract:BACKGROUND:Although maternal thrombocytopenia during pregnancy is common, its effect on neonatal platelets has not yet been fully evaluated. METHODS:We retrospectively evaluated the rate of thrombocytopenia among 767 healthy term neonates (gestational age 37-42 weeks) born to 723 mothers with pregnancy-induced thrombo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Maayan-Metzger A,Leibovitch L,Schushan-Eisen I,Strauss T,Kenet G,Kuint J

    更新日期:2010-07-15 00:00:00

  • Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010.

    abstract:BACKGROUND:Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the Li-Fraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT pa...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Gozali AE,Britt B,Shane L,Gonzalez I,Gilles F,McComb JG,Krieger MD,Lavey RS,Shlien A,Villablanca JG,Erdreich-Epstein A,Dhall G,Jubran R,Tabori U,Malkin D,Finlay JL

    更新日期:2012-06-01 00:00:00

  • Predictors of acute chemotherapy-associated toxicity in patients with Ewing sarcoma.

    abstract:BACKGROUND:Ewing sarcoma (ES) is a malignant tumor of bone and soft tissue of children and young adults. Patients with ES are treated with intensive chemotherapy regimens. We describe predictors of acute chemotherapy-associated toxicity in this population. PROCEDURE:In this retrospective cohort study, records of ES pa...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Sharib JM,Cyrus J,Horvai A,Gray Hazard FK,Neuhaus J,Matthay KK,Goldsby R,Marina N,DuBois SG

    更新日期:2012-10-01 00:00:00

  • Hemophagocytic lymphohistiocytosis in very young infants.

    abstract::We report three cases of hemophagocytic lymphohistiocytosis (HLH) in infants within the first 6 weeks of life. Diagnosis of HLH was made early after symptoms started. All three cases were successfully treated with dexamethasone and none relapsed, indicating that not all cases of HLH in very young infants are familial....

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Tanoshima R,Takahashi H,Hokosaki T,Yamaguchi K,Goto S,Kai S

    更新日期:2009-01-01 00:00:00

  • Incidence of acute kidney injury among pediatric hematology/oncology patients receiving vancomycin in combination with piperacillin/tazobactam or cefepime.

    abstract::There is mounting evidence that combination of antibiotic therapy with vancomycin and piperacillin/tazobactam (pip/tazo) is associated with acute kidney injury (AKI). To determine whether vancomycin plus pip/tazo is associated with higher rates of AKI compared to vancomycin plus cefepime among pediatric hematology/onc...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Quach HT,Esbenshade AJ,Zhao Z,Banerjee R

    更新日期:2019-07-01 00:00:00

  • Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia.

    abstract::Wilms tumor (WT) is the most common primary renal tumor in childhood. The occurrence of WT in patients with growth retardation, mental retardation and central nervous system abnormalities in association with premature chromatid separation (PCS) and mosaic variegated aneuploidy has been previously described in only 10 ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Sari N,Akyuz C,Aktas D,Gumruk F,Orhan D,Alikasifoglu M,Aydin B,Alanay Y,Buyukpamukcu M

    更新日期:2009-08-01 00:00:00

  • Ifosfamide and vinorelbine is an effective reinduction regimen in children with refractory/relapsed Hodgkin lymphoma, AHOD00P1: a children's oncology group report.

    abstract:BACKGROUND:We assessed the safety and efficacy of ifosfamide and vinorelbine (IV) as a less toxic and effective reinduction regimen for pediatric patients with relapsed or refractory Hodgkin Lymphoma. PROCEDURE:This multi-center Children's Oncology Group phase II pilot study enrolled patients <30 years of age with bio...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究


    authors: Trippett TM,Schwartz CL,Guillerman RP,Gamis AS,Gardner S,Hogan S,London WB,Chen L,de Alarcon P

    更新日期:2015-01-01 00:00:00

  • Primary Cutaneous Lymphomas in Children and Adolescents.

    abstract::Primary cutaneous lymphomas are rare in children and mostly represented by mycosis fungoides and CD30(+) lymphoproliferative disorders. Most pediatric cutaneous lymphomas have similar clinical/pathological features as their adult counterparts, particularly the T-cell subtypes. With regard to outcome, adult cutaneous m...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Ceppi F,Pope E,Ngan B,Abla O

    更新日期:2016-11-01 00:00:00

  • How I approach expressing condolences and longitudinal remembering to a family after the death of a child.

    abstract::Bereaved families fear their child being forgotten by those who knew their loved child, including their child's oncology team. Thoughtfully timed, family-centric condolences shared by pediatric oncology team members have the potential to extend our compassion and kindness toward a family during the darkness of grief. ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Weaver MS,Lichtenthal WG,Larson K,Wiener L

    更新日期:2019-02-01 00:00:00

  • High birth prevalence of sickle cell disease in Northwestern Tanzania.

    abstract:BACKGROUND:Worldwide, hemoglobinopathies affect millions of children. Identification of hemoglobin disorders in most sub-Saharan African countries is delayed until clinical signs of the disease are present. Limited studies have been conducted to understand their prevalence and clinical presentation among newborns in re...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究


    authors: Ambrose EE,Makani J,Chami N,Masoza T,Kabyemera R,Peck RN,Kamugisha E,Manjurano A,Kayange N,Smart LR

    更新日期:2018-01-01 00:00:00

  • Medulloblastoma in a child with down syndrome: long-term remission with multimodality treatment.

    abstract::A 4(3/4)-year-old male with Down syndrome (DS) presented with unsteady gait and fatigue. Neuroimaging revealed a cerebellar mass with concomitant obstructive hydrocephalus and additional metastatic lesions. He was successfully treated and is still in complete remission 5 years from diagnosis. The present case illustra...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Benesch M,Moser A,Sovinz P,Lackner H,Schwinger W,Eder H,Urban C

    更新日期:2009-12-01 00:00:00

  • Local lymph node involvement in pediatric renal cell carcinoma: a report from the Italian TREP project.

    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


    authors: Indolfi P,Bisogno G,Cecchetto G,Spreafico F,De Salvo GL,Collini P,Jenkner A,Inserra A,Schiavetti A,di Martino M,Casale F

    更新日期:2008-10-01 00:00:00

  • Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.

    abstract::MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (-7/7q-) and an increased risk to develop myelodysplastic syndrome (MDS). We report a case of MIRAGE syndrome, caused by a novel SAMD9 mutation p.Leu641Pro, leading to characteristic clinical features as well as to the coexi...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Csillag B,Ilencikova D,Meissl M,Webersinke G,Laccone F,Narumi S,Haas O,Duba HC

    更新日期:2019-04-01 00:00:00

  • Late effects in childhood cancer survivors: a review with a framing effect bias?

    abstract::Most publications report the adverse (negative) health issues in childhood cancer survivors. Presenting information to the newly diagnosed patient in a positive manner is advocated, while noting that recurrence is the most likely adverse event. Re-analysis of population-based studies on life-threatening toxicities fro...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Fryer C

    更新日期:2011-12-15 00:00:00

  • Pediatric cancer research: Surviving COVID-19.

    abstract::A diverse panel of pediatric cancer advocates and experts, whose collective experience spans the continuum of international academic medicine, industry, government research, and cancer advocacy, recently discussed challenges for pediatric cancer research in the context of coronavirus disease 2019 (COVID-19). Specifica...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,评审


    authors: Auletta JJ,Adamson PC,Agin JE,Kearns P,Kennedy S,Kieran MW,Ludwinski DM,Knox LJ,McKay K,Rhiner P,Thiele CJ,Cripe TP

    更新日期:2020-09-01 00:00:00

  • Feasibility and accuracy of UF/NCI phantoms and Monte Carlo retrospective dosimetry in children treated on National Wilms Tumor Study protocols.

    abstract:PURPOSE:This pilot study was done to determine the feasibility and accuracy of University of Florida/National Cancer Institute (UF/NCI) phantoms and Monte Carlo (MC) retrospective dosimetry and had two aims: (1) to determine the anatomic accuracy of UF/NCI phantoms by comparing 3D organ doses in National Wilms Tumor St...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Kalapurakal JA,Gopalakrishnan M,Mille M,Helenowski I,Peterson S,Rigsby C,Laurie F,Jung JW,Fitzgerald TJ,Lee C

    更新日期:2018-12-01 00:00:00

  • Rhabdomyosarcoma arising within congenital cystic adenomatoid malformation.

    abstract::Rhabdomyosarcoma arising within a congenital cystic adenomatoid malformation (CCAM) is an unusual entity. The patient underwent a lobectomy of his right lower lobe of lung due to a CCAM at the age of two. One year later, he developed a solid embryonal rhabdomyosarcoma at the same location. He received 1-year period ch...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Pai S,Eng HL,Lee SY,Hsiao CC,Huang WT,Huang SC

    更新日期:2005-11-01 00:00:00

  • Initial testing (stage 1) of temozolomide by the pediatric preclinical testing program.

    abstract:BACKGROUND:The DNA methylating agent temozolomide was developed primarily for treatment of glioblastoma. However, preclinical data have suggested a broader application for treatment of childhood cancer. Temozolomide was tested against the PPTP solid tumor and ALL models. PROCEDURES:Temozolomide was tested against the ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Keir ST,Maris JM,Reynolds CP,Kang MH,Kolb EA,Gorlick R,Lock R,Carol H,Morton CL,Wu J,Kurmasheva RT,Houghton PJ,Smith MA

    更新日期:2013-05-01 00:00:00

  • Cost-effectiveness of treatment of childhood acute lymphoblastic leukemia with chemotherapy only: the influence of new medication and diagnostic technology.

    abstract:BACKGROUND:Survival for childhood acute lymphoblastic leukemia (ALL) has reached 80-90%. Future improvement in treatment success will involve new technologies and medication, adding to the pressure on limited financial resources. Therefore a retrospective cost-effectiveness analysis of ALL treatment with chemotherapy o...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: van Litsenburg RR,Uyl-de Groot CA,Raat H,Kaspers GJ,Gemke RJ

    更新日期:2011-12-01 00:00:00

  • A novel tissue-based ß-catenin gene and immunohistochemical analysis to exclude familial adenomatous polyposis among children with hepatoblastoma tumors.

    abstract:BACKGROUND:The Wnt/β-catenin pathway plays a central role in the pathogenesis of most hepatoblastomas (HBs), that is, up to 60-80% carry activating CTNNB1 mutations. HBs can however also be the first manifestation of familial adenomatous polyposis (FAP). As this is a severe disease, it is important for the patient and ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Dubbink HJ,Hollink IHIM,Avenca Valente C,Wang W,Liu P,Doukas M,van Noesel MM,Dinjens WNM,Wagner A,Smits R

    更新日期:2018-06-01 00:00:00

  • A comparison of safety and efficacy of cytotoxic versus molecularly targeted drugs in pediatric phase I solid tumor oncology trials.

    abstract:BACKGROUND:Prior reviews of phase I pediatric oncology trials involving primarily cytotoxic agents have reported objective response rates (ORRs) and toxic death rates of 7.9-9.6% and 0.5%, respectively. These data may not reflect safety and efficacy in phase I trials of molecularly targeted (targeted) drugs. METHODS:A...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,meta分析


    authors: Dorris K,Liu C,Li D,Hummel TR,Wang X,Perentesis J,Kim MO,Fouladi M

    更新日期:2017-03-01 00:00:00

  • Pulmonary function in long-term survivors of pediatric hematopoietic cell transplantation.

    abstract:BACKGROUND:The purpose of this study was to determine the prevalence of pulmonary dysfunction in pediatric hematopoietic cell transplant (HCT) survivors and to identify associated risk factors. PROCEDURE:In a cross-sectional study, patients surviving at least 5 years after pediatric HCT were requested to undergo pulmo...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Hoffmeister PA,Madtes DK,Storer BE,Sanders JE

    更新日期:2006-10-15 00:00:00

  • Ifosfamide, gemcitabine, and vinorelbine is an effective salvage regimen with excellent stem cell mobilization in relapsed or refractory pediatric Hodgkin lymphoma.

    abstract::We describe 12 pediatric patients (8-16 years) with primary refractory (N = 6) or first relapse (N = 6) Hodgkin lymphoma (HL) treated with ifosfamide, gemcitabine, and vinorelbine (IGEV). The overall response rate to IGEV was 100%, with seven (58%) complete responses (CR) and five (42%) partial responses. Successful C...

    journal_title:Pediatric blood & cancer

    pub_type: 临床试验,杂志文章


    authors: Marr K,Ronsley R,Nadel H,Douglas K,Gershony S,Strahlendorf C,Davis JH,Deyell RJ

    更新日期:2020-04-01 00:00:00

  • Cediranib phase-II study in children with metastatic alveolar soft-part sarcoma (ASPS).

    abstract:BACKGROUND:Alveolar soft-part sarcoma (ASPS), a rare vascular sarcoma with a clinically indolent course, frequently presents with metastases. Vascular endothelial growth factor (VEGF) is a promising therapeutic target. In a phase-II trial of the VEGF receptor inhibitor cediranib for adults with ASPS, the partial respon...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究


    authors: Cohen JW,Widemann BC,Derdak J,Dombi E,Goodwin A,Dompierre J,Onukwubiri U,Steinberg SM,O'Sullivan Coyne G,Kummar S,Chen AP,Glod J

    更新日期:2019-12-01 00:00:00

  • Discrepancies between F-18-FDG PET/CT findings and conventional imaging in Langerhans cell histiocytosis.

    abstract:BACKGROUND:Accurate risk stratification of Langerhans cell histiocytosis (LCH) is essential as management can range from conservative in single system, low risk for central nervous system (CNS) involvement lesions to intensive chemotherapy for multisystem or high-risk disease. Additionally, being able to differentiate ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Ferrell J,Sharp S,Kumar A,Jordan M,Picarsic J,Nelson A

    更新日期:2021-01-14 00:00:00

  • A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene.

    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 ...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章


    authors: Chen X,Yue L,Li C,Li C

    更新日期:2010-08-01 00:00:00

  • A phase II study of clinical activity of SCH 717454 (robatumumab) in patients with relapsed osteosarcoma and Ewing sarcoma.

    abstract:BACKGROUND:Robatumumab (19D12; MK-7454 otherwise known as SCH717454) is a fully human antibody that binds to and inhibits insulin-like growth factor receptor-1 (IGF-1R). This multiinstitutional study (P04720) determined the safety and clinical efficacy of robatumumab in three separate patient groups with resectable ost...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究


    authors: Anderson PM,Bielack SS,Gorlick RG,Skubitz K,Daw NC,Herzog CE,Monge OR,Lassaletta A,Boldrini E,Pápai Z,Rubino J,Pathiraja K,Hille DA,Ayers M,Yao SL,Nebozhyn M,Lu B,Mauro D

    更新日期:2016-10-01 00:00:00

  • Outcome of children with primary resistant or relapsed non-Hodgkin lymphoma and mature B-cell leukemia after intensive first-line treatment: a population-based analysis of the Austrian Cooperative Study Group.

    abstract:BACKGROUND:Children and adolescents with Non-Hodgkin lymphoma (NHL) and mature B-cell leukemia (B-ALL) have an excellent prognosis with contemporary chemotherapy stratified according to the histologic subtype and clinical stage of disease. However, a small subset of patients does not respond to front-line therapy or su...

    journal_title:Pediatric blood & cancer

    pub_type: 杂志文章,多中心研究


    authors: Attarbaschi A,Dworzak M,Steiner M,Urban C,Fink FM,Reiter A,Gadner H,Mann G

    更新日期:2005-01-01 00:00:00

  • Tumor cells are present in stem cell harvests of Ewings sarcoma patients and their persistence following transplantation is associated with relapse.

    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


    authors: Yaniv I,Cohen IJ,Stein J,Zilberstein J,Liberzon E,Atlas O,Grunshpan A,Sverdlov Y,Ash S,Zaizov R,Avigad S

    更新日期:2004-05-01 00:00:00