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1.
Blood Coagul Fibrinolysis ; 31(1): 77-79, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31714257

RESUMO

: The development of neutralizing antibodies is a rare complication of von Willebrand disease treatment. In major surgical procedures for severe forms of the disease, the recognition of ineffective therapy and alternative treatment protocols are lifesaving. We report the case of a 6-year-old girl with type 3 von Willebrand disease in whom inhibitors were sought due to ineffective haemostasis together with lower than expected von Willebrand factor (VWF) recoveries after a surgical procedure. Replacement therapy first with recombinant factor VIIa and then with high doses of recombinant factor VIII in continuous infusion successfully stopped the bleeding. A high level of anti-VWF antibodies was determined by the immunological method. A frameshift mutation associated with premature termination codon (c.2435delC, p.Pro812ArgfsTer31) was determined in our patient. Although the reports on association of this mutation with inhibitor risk are inconsistent, it represents an evidence-based diagnostic and management practice in recognition of high-risk VWF genotype.

2.
J Neurooncol ; 145(1): 177-184, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31522324

RESUMO

INTRODUCTION: Diffuse intrinsic pontine glioma (DIPG) is a rare clinically, neuro-radiologically, and molecularly defined malignancy of the brainstem with a median overall survival of approximately 11 months. Our aim is to evaluate the current tendency for its treatment in Europe in order to develop (inter)national consensus guidelines. METHODS: Healthcare professionals specialized in DIPG were asked to fill in an online survey with questions regarding usual treatment strategies at diagnosis and at disease progression in their countries and/or their centers, respectively. RESULTS: Seventy-four healthcare professionals responded to the survey, of which 87.8% were pediatric oncologists. Only 13.5% of the respondents biopsy all of their patients, 41.9% biopsy their patients infrequently. More than half of the respondents (54.1%) treated their patients with radiotherapy only at diagnosis, whereas 44.6% preferred radiotherapy combined with chemotherapy. When the disease progresses, treatment strategies became even more diverse, and the tendency for no treatment increased from 1.4% at diagnosis to 77.0% after second progression. 36.5% of the healthcare professionals treat children younger than 3 years differently than older children at diagnosis. This percentage decreased, when the disease progresses. Most of the participants (51.4%) included less than 25% of their patients in clinical trials. CONCLUSION: This survey demonstrates a large heterogeneity of treatment regimens, especially at disease progression. We emphasize the need for international consensus guidelines for the treatment of DIPG, possible by more collaborative clinical trials.

4.
Blood Transfus ; 14(5): 474-80, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-26674820

RESUMO

BACKGROUND: Patients with haemophilia A (HA) or B (HB) can be given prophylactic or on-demand treatment administered by continuous infusion or bolus injections of factor VIII (FVIII) or IX (FIX). In this study we evaluated the efficacy and safety of low-dose continuous infusion of FVIII or FIX. MATERIAL AND METHODS: We studied all eligible patients with HA or HB treated with continuous infusion of factor concentrates over an 18-year period in a single Slovenian Haemophilia Comprehensive Care Centre. Treatment started with a bolus injection of FVIII or FIX, followed by continuous infusion at the initial rate of 2 IU/kg/h of FVIII in HA patients and 4.5 IU/kg/h of FIX in HB patients. The infusion rate was subsequently adjusted according to the indication for therapy. RESULTS: A total of 66 continuous infusions (40 in major surgery, 10 in minor surgery and 16 with bleeding episode) in 46 HA patients and 16 (15 in severe and 1 in mild HA) in eight HB patients were included in the study. During the first week of treatment, the median continuous infusion rates in HA patients undergoing major surgery, minor surgery and a bleeding event were 2.18 (0.75-3.68), 1.48 (1.0-2.54) and 2.24 (1.33-3.93) IU/kg/h, respectively. The median FVIII activities were 0.69 (0.37-1.19), 0.47 (0.39-0.84) and 0.52 (0.36-1.06) IU/mL. After the first week of treatment, even lower doses of FVIII were needed. Red blood cell transfusions had to be administered to three patients (2 with severe and 1 with moderate HA) during the continuous infusion and inhibitors developed in five patients. In HB patients, the median continuous infusion rate was 1.85 (1.07-2.94) IU/kg/h and the median FIX activity was 0.62 (0.30-1.04) IU/mL. Red blood cell transfusions were not required, and thrombophlebitis and inhibitors did not appear. DISCUSSION: Overall, low-dose continuous infusion was shown to be an effective and safe way of treating patients with HA. The protocol used also proved efficient and safe in all HB patients.


Assuntos
Hemofilia A/sangue , Infusões Intravenosas , Fator VIII/administração & dosagem , Hemorragia/induzido quimicamente , Humanos , Resultado do Tratamento
7.
Support Care Cancer ; 22(1): 269-77, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24057110

RESUMO

PURPOSE: In febrile neutropenia (FN), no reliable marker has been identified to discriminate between severe infection and other causes of fever early in the clinical course. Since lipopolysaccharide-binding protein (LBP) has proven to be an accurate biomarker of bacteremia/clinical sepsis in critically ill non-immunocompromised infants and children, we performed a prospective study to determine the diagnostic accuracy of LBP in children with FN. METHODS: Concentrations of LBP, procalcitonin (PCT), interleukin-6 (IL-6), and C-reactive protein (CRP) were prospectively measured on two consecutive days in 90 FN episodes experienced by 47 children. Receiver operating characteristic curve analysis was performed for each biomarker to predict bacteremia/clinical sepsis and severe sepsis. RESULTS: Eighteen of the 90 episodes were classified as bacteremia/clinical sepsis. On both days 1 and 2, all biomarkers had a low to intermediate diagnostic accuracy for sepsis, and no significant differences were found between them (area under the curve (AUC) for LBP, 0.648 and 0.714; for PCT, 0.665 and 0.744; for IL-6, 0.775 and 0.775; and for CRP, 0.695 and 0.828). Comparison of their AUCs to the AUC of maximum body temperature on admission (AUC = 0.668) also failed to show any significant differences. In severe sepsis, however, the best diagnostic accuracies were found for IL-6 and PCT (AUC 0.892 and 0.752, respectively), and these were significantly higher than those for LBP (AUC 0.566) on admission. CONCLUSIONS: On admission and 24 h later, the LBP concentration is less accurate for predicting bacteremia/clinical sepsis compared to IL-6, PCT, and CRP.


Assuntos
Bacteriemia/sangue , Proteínas de Transporte/sangue , Neutropenia Febril/sangue , Neutropenia Febril/microbiologia , Glicoproteínas de Membrana/sangue , Proteínas da Fase Aguda , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Calcitonina/sangue , Peptídeo Relacionado com Gene de Calcitonina , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Interleucina-6/sangue , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Precursores de Proteínas/sangue
9.
J Pediatr Hematol Oncol ; 35(7): e311-3, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23669731

RESUMO

BACKGROUND: The clinical manifestations of human metapneumovirus (hMPV) infection resemble those of respiratory syncytial virus with the most severe disease occurring in infants, the elderly, chronically ill, and immunocompromised hosts. OBSERVATION: We present a case of a 2-year-old girl undergoing intensive chemotherapy for Burkitt lymphoma who developed severe hMPV pneumonia. Rapid and complete recovery was observed after treatment with oral ribavirin and intravenous immunoglobulin. CONCLUSION: As hMPV can cause severe pneumonia in immunocompromised patients and due to the reports of effective treatment with ribavirin, clinical studies to elucidate the role of ribavirin in treatment of hMPV pneumonia may be needed.


Assuntos
Antivirais/uso terapêutico , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas , Metapneumovirus , Infecções por Paramyxoviridae/terapia , Pneumonia Viral/terapia , Ribavirina/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Antivirais/administração & dosagem , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/imunologia , Pré-Escolar , Feminino , Humanos , Infecções por Paramyxoviridae/diagnóstico , Infecções por Paramyxoviridae/imunologia , Pneumonia Viral/diagnóstico , Pneumonia Viral/imunologia , Ribavirina/administração & dosagem , Resultado do Tratamento
10.
Pediatr Int ; 53(6): 1018-22, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21883686

RESUMO

BACKGROUND: Gaucher disease type 1 (GD1) was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed. We describe the management of eight GD1 patients in Slovenia who were diagnosed between the ages of 2 and 15 years. METHODS: Patients were individually assessed to establish initial enzyme doses and monitored frequently to determine the effects of long-term enzyme dose regimens. Outcomes up to 10 years after long-term treatment are described by changes in the Zimran severity score index, chitotriosidase and acid phosphatase levels, and after 2001, bone parameters (DEXA bone mineral density scores and the MRI bone marrow burden score). RESULTS: Following the initiation of enzyme therapy with individualized dose regimens (range 25-56 U/kg/14 days) and followed by a gradual reduction of doses (range 12-35 U/kg/14 days) during long-term maintenance, disease status improved in all patients as measured by the Zimran severity score index (from a mean of 11.25 [median 11.5] before therapy to a mean of 4.12 [median 3.5] at last report). Anemia and leucopenia resolved in all patients, chitotriosidase and acid phosphatase levels decreased in all patients (and by over 75% in six patients) within 1 year of treatment. Bone marrow burden scores improved in all monitored patients and DXA scores improved in six of seven monitored patients. CONCLUSIONS: We conclude that enzyme therapy with relatively low, individualized dose regimens is well-tolerated and effective in children and young adults with GD1 disease, who are regularly monitored for changes in disease status.


Assuntos
Terapia de Reposição de Enzimas/métodos , Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/administração & dosagem , Fosfatase Ácida/sangue , Adolescente , Adulto , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Doença de Gaucher/enzimologia , Doença de Gaucher/epidemiologia , Hexosaminidases/sangue , Humanos , Lactente , Infusões Intravenosas , Masculino , Prevalência , Estudos Retrospectivos , Eslovênia/epidemiologia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
11.
J Med Case Rep ; 3: 8319, 2009 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-19830224

RESUMO

INTRODUCTION: Edward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome. CASE PRESENTATION: The authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatoblastoma. The course of the disease, autopsy results and review of the literature are presented. CONCLUSION: Our case represents the seventh published case of hepatoblastoma in a patient with trisomy 18. All of the seven published cases were women, possibly due to the high preponderance of females among the children with Edward's syndrome and longer survival of females with trisomy 18 compared to males. Since both trisomy 18 and hepatoblastoma are rare conditions, the probability that a child with trisomy 18 will independently develop a hepatoblastoma is very low. Therefore, we believe that the existence of these cases in children with trisomy 18 indicates a significant association. It can be assumed that trisomy 18 potentiates the development of hepatoblastoma. Careful clinical and post-mortem studies are needed to recognize the real frequency of hepatoblastoma in children with trisomy 18, who might die from different causes with unrecognizable hepatoblastoma.

12.
Leuk Lymphoma ; 46(6): 893-7, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16019535

RESUMO

Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have been associated not only with the risk for acute lymphoblastic leukemia (ALL) in adults and children, but also with increased methotrexate toxicity. The present study aimed to investigate whether MTHFR polymorphisms modify the risk for development of secondary malignancies in children treated for ALL with protocols that included high-dose methotrexate. MTHFR genotypes were determined in DNA samples isolated from archived bone marrow smears of 15 patients with a second malignancy and a matched control group of 30 patients who did not developed a second malignancy after the treatment for ALL. The frequencies of MTHFR C677T and A1298C genotypes in all patients were: C677T: CC 40%, CT 46.7% and TT 13.3% and A1298C: AA 46.7%, AC 44.4% and CC 8.9%. The relative risk for second malignancy was not significantly increased in ALL patients having at least one polymorphic C667T [odds ratio (OR) 1.51; 95% confidence interval (CI) 0.43-5.31] or one polymorphic A1298C allele (OR 1; 95% CI 0.29?-?3.46). Our study suggests that MTHFR polymorphisms are not associated with increased risk of second cancer in children treated with high-dose methotrexate.


Assuntos
Predisposição Genética para Doença , Leucemia/complicações , Leucemia/patologia , Metotrexato/efeitos adversos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Segunda Neoplasia Primária/etiologia , Polimorfismo Genético , Adolescente , Alelos , Antineoplásicos/efeitos adversos , Criança , Feminino , Genótipo , Humanos , Lactente , Leucemia/tratamento farmacológico , Masculino , Razão de Chances , Risco , Análise de Sequência de DNA
13.
Croat Med J ; 46(3): 463-6, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15861528

RESUMO

We report an unusual case of a malignant blue nevus in a five-year-old girl, which turned out to be malignant only after the development of lymph node metastases three years after the excision of the primary tumor on the patient's cheek. A functional bilateral neck dissection was performed and the patient is alive with no evidence of disease 8 years after the excision of the primary skin lesion.


Assuntos
Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Pré-Escolar , Feminino , Humanos , Metástase Linfática , Esvaziamento Cervical , Nevo Azul/cirurgia , Neoplasias Cutâneas/cirurgia
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