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1.
Blood Transfus ; 16(1): 105-113, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-27723456

RESUMO

BACKGROUND: Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been reported in the FXI mutation database, most of which affect the serine protease domain of the protein. FXI is a heterogeneous disorder associated with a variable bleeding tendency and a variety of causative F11 gene mutations. The molecular basis of FXI deficiency in 14 patients from ten unrelated families in Turkey was analysed to establish genotype-phenotype correlations and inheritance of the mutations in the patients' families. MATERIAL AND METHODS: Fourteen index cases with a diagnosis of FXI deficiency and family members of these patients were enrolled into the study. The patients' F11 genes were amplified by polymerase chain reaction and subjected to direct DNA sequencing analysis. The findings were analysed statistically using bivariate correlations, Pearson's correlation coefficient and the nonparametric Mann-Whitney test. RESULTS: Direct DNA sequencing analysis of the F11 genes revealed that all of the 14 patients had a F11 gene mutation. Eight different mutations were identified in the apple 1, apple 2 or serine protease domains, except one which was a splice site mutation. Six of the mutations were recurrent. Two of the mutations were novel missense mutations, p.Val522Gly and p.Cys581Arg, within the catalytic domain. The p.Trp519Stop mutation was observed in two families whereas all the other mutations were specific to a single family. DISCUSSION: Identification of mutations confirmed the genetic heterogeneity of FXI deficiency. Most of the patients with mutations did not have any bleeding complications, whereas some had severe bleeding symptoms. Genetic screening for F11 gene mutations is important to decrease the mortality and morbidity rate associated with FXI deficiency, which can be life-threatening if bleeding occurs in tissues with high fibrinolytic activity.


Assuntos
Deficiência do Fator XI/genética , Fator XI/genética , Mutação , Adulto , Criança , Pré-Escolar , Família , Feminino , Humanos , Masculino , Domínios Proteicos , Turquia
2.
Arch. argent. pediatr ; 115(4): 217-219, ago. 2017. ilus, tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-887349

RESUMO

Es posible detectar normoblastos en los frotis de sangre periférica de los recién nacidos. En general, la cantidad de normoblastos por cada 100 leucocitos está en el intervalo de 0 a 10. Se observan con más frecuencia de lo usual ante una situación de hipoxia porque la hipoxia intrauterina aumenta la producción de eritrocitos. Sin embargo, no se había informado antes un caso de normoblastos multinucleados en un recién nacido a causa de la hipoxia. Presentamos el caso de un recién nacido con normoblastos multinucleados secundarios a hipoxia intrauterina. Este caso es importante porque es la primera vez que se han detectado normoblastos multinucleados en el frotis de sangre periférica de un recién nacido hipóxico.


Normoblasts may be seen in peripheral blood smear of newborns. The number of normoblasts per 100 white blood cells is generally in the range of 0-10.They can be seen more common than usual in hypoxic condition, because intrauterine hypoxia increases the production of red blood cells. However, multinucleated normoblasts in a newborn caused by hypoxia haven't been reported before. We present a newborn with multinucleated normoblasts secondary to intrauterine hypoxia. This case is important; because it is the first time multinucleated normoblasts in peripheral blood smear of a hypoxic newborn has been detected.


Assuntos
Humanos , Masculino , Recém-Nascido , Eritroblastos , Doenças Hematológicas/etiologia , Hipóxia/complicações , Doenças Hematológicas/sangue , Hipóxia/sangue
3.
J Pediatr Hematol Oncol ; 39(8): e504-e507, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28731923

RESUMO

With improvements in molecular diagnostic methods, report of Human bocavirus (HBoV) as an etiologic agent in many studies on viral respiratory and gastrointestinal infections has been increasing. Two pediatric patients who presented with secondary hemophagocytic lymphohistiocytosis were examined for etiologic causes, including viruses. Whole bacterial and fungal cultures and viral serological studies were negative. Viral polymerase chain reaction of nasopharyngeal secretions showed HBoV. One was successfully treated with intravenous immunoglobulins, whereas the other died with multiorgan failure. Here we report 2 pediatric patients with secondary hemophagocytic lymphohistiocytosis and detection of HBoV as the sole agent, predicting an association.


Assuntos
Bocavirus Humano , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Infecções por Parvoviridae/complicações , Biomarcadores , Medula Óssea/patologia , Pré-Escolar , Exantema/patologia , Evolução Fatal , Feminino , Bocavirus Humano/genética , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Masculino , Infecções por Parvoviridae/diagnóstico , Infecções por Parvoviridae/virologia , Reação em Cadeia da Polimerase , Resultado do Tratamento
4.
Arch Argent Pediatr ; 115(4): e217-e219, 2017 08 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28737871

RESUMO

Normoblasts may be seen in peripheral blood smear of newborns. The number of normoblasts per 100 white blood cells is generally in the range of 0-10.They can be seen more common than usual in hypoxic condition, because intrauterine hypoxia increases the production of red blood cells. However, multinucleated normoblasts in a newborn caused by hypoxia haven't been reported before. We present a newborn with multinucleated normoblasts secondary to intrauterine hypoxia. This case is important; because it is the first time multinucleated normoblasts in peripheral blood smear of a hypoxic newborn has been detected.


Assuntos
Eritroblastos , Doenças Hematológicas/etiologia , Hipóxia/complicações , Doenças Hematológicas/sangue , Humanos , Hipóxia/sangue , Recém-Nascido , Masculino
5.
Arch. argent. pediatr ; 115(2): e92-e95, abr. 2017. ilus, tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-838345

RESUMO

La gangrena gaseosa, o mionecrosis clostridial, es una de las enfermedades infecciosas más graves, y se caracteriza por la rápida y progresiva destrucción de los tejidos blandos profundos y la producción de gas dentro de los tejidos. Presentamos un caso de gangrena gaseosa espontánea mortal causada por Clostridium perfringens en un paciente con leucemia linfocítica aguda durante la fase de quimioterapia de inducción de la remisión.


Gas gangrene, clostridial myonecrosis, is one of the most serious infectious diseases, characterized by rapidly progressive destruction of deep soft tissues and production of gas within the tissues. We presented a case of fatal spontaneous gas gangrene due to Clostridium perfringens in a patient with acute lymphoblastic leukemia during remission induction chemotherapy phase.


Assuntos
Humanos , Masculino , Adolescente , Gangrena Gasosa/complicações , Anemia Hemolítica/etiologia , Evolução Fatal , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico
6.
Arch Argent Pediatr ; 115(2): e92-e95, 2017 04 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28318191

RESUMO

Gas gangrene, clostridial myonecrosis, is one of the most serious infectious diseases, characterized by rapidly progressive destruction of deep soft tissues and production of gas within the tissues. We presented a case of fatal spontaneous gas gangrene due to Clostridium perfringens in a patient with acute lymphoblastic leukemia during remission induction chemotherapy phase.


Assuntos
Anemia Hemolítica/etiologia , Gangrena Gasosa/complicações , Adolescente , Evolução Fatal , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico
7.
Exp Clin Transplant ; 15(4): 458-462, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27765005

RESUMO

OBJECTIVES: The aim of this study was to evaluate nutritional status in children who underwent hematopoietic stem cell transplant compared with a healthy control group. A secondary aim was to utilize mid-upper arm circumference as a measure of nutritional status in these groups of children. MATERIALS AND METHODS: Our study group included 40 children (18 girls, 22 boys) with mean age of 9.2 ± 4.6 years (range, 2-17 y) who underwent hematopoietic stem cell transplant. Our control group consisted of 20 healthy children (9 girls, 11 boys). The children were evaluated at admission to the hospital and followed regularly 3, 6, 9, and 12 months after discharge from the hospital. RESULTS: In the study group, 27 of 40 patients (67.5%) received nutritional support during hematopoietic stem cell transplant, with 15 patients (56%) receiving enteral nutrition, 6 (22%) receiving total parenteral nutrition, and 6 (22%) receiving enteral and total parenteral nutrition. Chronic malnutrition rate in the study group was 47.5% on admission to the hospital, with the control group having a rate of 20%. One year after transplant, the rate decreased to 20% in the study group and 5% in the control group. The mid-upper arm circumference was lower in children in the study group versus the control group at the beginning of the study (P < .05). However, there were no significant differences in mid-upper arm circumference measurements between groups at follow-up examinations (P > .05). During follow-up, all anthropometric measurements increased significantly in both groups. CONCLUSIONS: Monitoring nutritional status and initiating appropriate nutritional support improved the success of hematopoietic stem cell transplant and provided a more comfortable process during the transplant period. Furthermore, mid-upper arm circumference is a more sensitive, useful, and safer parameter that can be used to measure nutritional status of children who undergo hematopoietic stem cell transplant.


Assuntos
Desenvolvimento do Adolescente , Desenvolvimento Infantil , Fenômenos Fisiológicos da Nutrição Infantil , Nutrição Enteral , Transplante de Células-Tronco Hematopoéticas , Estado Nutricional , Nutrição Parenteral Total , Extremidade Superior/crescimento & desenvolvimento , Adolescente , Fenômenos Fisiológicos da Nutrição do Adolescente , Fatores Etários , Antropometria , Estudos de Casos e Controles , Criança , Pré-Escolar , Nutrição Enteral/efeitos adversos , Feminino , Humanos , Masculino , Avaliação Nutricional , Nutrição Parenteral Total/efeitos adversos , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Tempo , Resultado do Tratamento
8.
Turk J Haematol ; 34(1): 40-45, 2017 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-27094350

RESUMO

INTRODUCTION: Improvement in long-term survival in patients with acute lymphoblastic leukemia (ALL) in childhood has led to the need for monitorization of treatment-related morbidity and mortality. In the current study, we aimed to evaluate endocrine side effects of treatment in ALL survivors who were in remission for at least 2 years. METHODS: Sixty patients diagnosed with ALL, who were in remission for at least 2 years, were cross-sectionally evaluated for long-term endocrine complications. RESULTS: The median age of the patients at the time of diagnosis, at the time of chemotherapy completion, and at the time of the study was 5 years (minimum-maximum: 1.7-13), 8 years (minimum-maximum: 4.25-16), and 11.7 years (minimum-maximum: 7-22), respectively, and median follow-up time was 4 years (minimum-maximum: 2-10.1). At least one complication was observed in 81.6% of patients. Vitamin D insufficiency/deficiency (46.6%), overweight/obesity (33.3%), and dyslipidemia (23.3%) were the three most frequent endocrine complications. Other complications seen in our patients were hyperparathyroidism secondary to vitamin D deficiency (15%), insulin resistance (11.7%), hypertension (8.3%), short stature (6.7%), thyroid function abnormality (5%), precocious puberty (3.3%), and decreased bone mineral density (1.7%). There were no statistically significant correlations between endocrine complications and age, sex, and radiotherapy, except vitamin D insufficiency/deficiency, which was significantly more frequent in pubertal ALL survivors compared to prepubertal ALL survivors (57.5% and 25%, respectively, p=0.011). CONCLUSION: A high frequency of endocrine complications was observed in the current study. The high frequency of late effects necessitates long-term surveillance of this population to better understand the incidence of late-occurring events and the defining of high-risk features that can facilitate developing intervention strategies for early detection and prevention.

9.
Turk J Pediatr ; 58(2): 145-151, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27976554

RESUMO

Gastrointestinal tract is one of the major systems affected by graft-versus-host disease (GVHD). Injury to the gut during conditioning therapy before stem-cell transplantation (SCT) plays a pivotal role in the initiation of inflammatory stimuli. We reviewed medical records of the patients who underwent SCT between April 2010 and June 2013 in our center. A stepwise upgrade diet was given to the children with acute GI-GVHD (Gastrointestinal GVHD) including parenteral and enteral nutrition. A total of 105 patients underwent SCT and seven patients developed grade III-IV acute GI-GVHD. Total parenteral nutrition (TPN) was initiated to all patients after the diagnosis of GI-GVHD and minimal enteral nutrition (1-2 ml/kg/day standard pediatric enteral formula/special meat soup) was given to the patients. GI-GVHD improved in all patients with no change in body weight, and recovery to a normal diet took 10-30 days. Stepwise diet management of oral nutrition contributed to rapid improvement of grades III-IV acute GI-GVHD.


Assuntos
Gastroenteropatias/dietoterapia , Doença Enxerto-Hospedeiro/dietoterapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Nutrição Parenteral/métodos , Adolescente , Criança , Pré-Escolar , Dieta , Feminino , Gastroenteropatias/etiologia , Humanos , Masculino
10.
J Pediatr Hematol Oncol ; 38(7): 539-43, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27548336

RESUMO

The aim was to evaluate baseline demographic, clinical, and laboratory characteristics, treatment modalities, and outcome of children with idiopathic hypereosinophilic syndrome (HES) followed up in our center. Children who fulfilled the criteria of idiopathic HES followed up at Hacettepe University Faculty of Medicine, Pediatric Hematology Department between June 2004 and October 2013 were included in this study. Medical records of all children with idiopathic HES were reviewed to obtain regarding data. The mean age of 6 children with idiopathic HES was 52.8±44.3 months (13 to 132 mo) at diagnosis. Among 6 children with idiopathic HES; 2 had pulmonary involvement; 1 had cardiac and pulmonary involvement and splenomegaly; 1 had cardiac involvement and hepatosplenomegaly; 1 had cardiac and central nervous system involvement; and 1 had skin involvement. The mean follow-up duration was 36.5±31.4 months. Methyl prednisolone (MP) was used for the first-line therapy. Complete response was achieved with MP in 3 children. All steroid responsive children are alive; whereas 3 children who did not respond to MP had expired. In conclusion, cardiac and pulmonary involvement is the major causes of mortality in HES. Resistance to steroid therapy indicates poor prognosis.


Assuntos
Síndrome Hipereosinofílica/terapia , Criança , Pré-Escolar , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Masculino , Metilprednisolona/uso terapêutico
11.
Blood Coagul Fibrinolysis ; 27(2): 163-8, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26829281

RESUMO

In this study, we aimed to evaluate the incidence, risk factors, causes and clinical management of intracranial haemorrhage (ICH) diagnosed during foetal life or in the first month of life in term neonates with a discussion of the role of haematological risk factors. This study included term neonates (gestational age 37-42 weeks) with ICH diagnosed, treated and followed up in the Neonatal Intensive Care Unit of Hacettepe University, Ankara, Turkey, between January 1994 and January 2014. Medical follow-up was obtained retrospectively from hospital files and prospectively from telephonic interviews and/or clinical visits. During the study period, 16 term neonates were identified as having ICH in our hospital. In six (37.5%) neonates, ICH was diagnosed during foetal life by obstetric ultrasonography, and in 10 (62.5%) neonates, it has been diagnosed after birth. Haemorrhage types included intraventricular haemorrhage (IVH) in eight (50.0%), intraparenchymal haemorrhage in six (37.5%), subarachnoid haemorrhage in one (6.2%) and subdural haemorrhage in one (6.2%) neonate. IVH was the most common (n = 5/6, 83.3%) haemorrhage type among neonates diagnosed during foetal life. Overall, haemorrhage severity was determined as mild in three (18.7%) neonates, moderate in three (18.75%) neonates and severe in 10 (62.5%) neonates. During follow-up, one infant was diagnosed as afibrinogenemia, one diagnosed as infantile spasm, one cystic fibrosis, one orofaciodigital syndrome and the other diagnosed as Friedrich ataxia. Detailed haematological investigation and search for other underlying diseases are very important to identify the reason of ICH in term neonates. Furthermore, early diagnosis, close monitoring and prompt surgical interventions are significant factors to reduce disabilities.


Assuntos
Afibrinogenemia/diagnóstico , Fibrose Cística/diagnóstico , Hemorragias Intracranianas/diagnóstico , Síndromes Orofaciodigitais/diagnóstico , Espasmos Infantis/diagnóstico , Afibrinogenemia/complicações , Afibrinogenemia/diagnóstico por imagem , Afibrinogenemia/epidemiologia , Fibrose Cística/complicações , Fibrose Cística/diagnóstico por imagem , Fibrose Cística/epidemiologia , Feminino , Doenças Fetais , Feto , Maternidades , Hospitais Universitários , Humanos , Incidência , Recém-Nascido , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/epidemiologia , Masculino , Síndromes Orofaciodigitais/complicações , Síndromes Orofaciodigitais/diagnóstico por imagem , Síndromes Orofaciodigitais/epidemiologia , Gravidez , Fatores de Risco , Espasmos Infantis/complicações , Espasmos Infantis/diagnóstico por imagem , Espasmos Infantis/epidemiologia , Turquia/epidemiologia , Ultrassonografia
12.
J Pediatr Hematol Oncol ; 38(3): 232-4, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26907650

RESUMO

Hypercalcemia is a rare complication of hematological malignancy in children. An 8-year-old girl with CALLA (+) Pre-B-cell ALL developed hypercalcemia during bone marrow relapse. She had nausea, vomiting, leg pain, polyuria, polydipsia, and muscle weakness. At the time of relapse, the ionized calcium level was 1.99 mmol/L. Rehydration with 0.9% saline and furosemide and methylprednisolone (MP) treatment were used for the treatment of hypercalcemia. The serum ionized calcium level increased to 2.2 mmol/L despite hydration, furosemide, and MP treatment. Then, a single-dose pamidronate (1 mg/kg/dose) was administered. Despite pamidronate treatment, the calcium level continued to rise. Next, calcitonin at a dose of 8 IU/kg/dose, 4 doses per day, was added to the treatment. After commencement of calcitonin treatment, her ionized calcium level decreased to normal reference ranges. In conclusion, because of the postponed effect of bisphosphonate treatment, pamidronate and calcitonin combination is an effective treatment option in the early resolution of malignancy-related hypercalcemia.


Assuntos
Conservadores da Densidade Óssea/uso terapêutico , Hipercalcemia/tratamento farmacológico , Hipercalcemia/etiologia , Recidiva Local de Neoplasia/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Calcitonina/uso terapêutico , Criança , Difosfonatos/uso terapêutico , Feminino , Humanos
13.
J Pediatr Hematol Oncol ; 38(3): 240-2, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26907662

RESUMO

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic condition characterized by headache, seizures, impaired vision, acute hypertension, and typical cranial MRI findings. OBSERVATION: A 10-year-old boy with FLT3-ITD-positive acute myelogenous leukemia who developed PRES during sorafenib treatment has been presented here. In English literature, there are 2 adult patients with metastatic cholangiocarcinoma or hepatocellular carcinoma who developed PRES under sorafenib treatment. Our patient is the first pediatric case with the diagnosis of acute myelogenous leukemia who developed PRES that might be attributed to sorafenib use. CONCLUSIONS: Thus, PRES might be a rare, potentially serious, but manageable, side effect of sorafenib that should be kept in mind by pediatric hematologists and oncologists.


Assuntos
Antineoplásicos/efeitos adversos , Leucemia Mieloide Aguda/tratamento farmacológico , Niacinamida/análogos & derivados , Compostos de Fenilureia/efeitos adversos , Síndrome da Leucoencefalopatia Posterior/induzido quimicamente , Tirosina Quinase 3 Semelhante a fms/genética , Criança , Humanos , Leucemia Mieloide Aguda/genética , Masculino , Recidiva Local de Neoplasia/tratamento farmacológico , Niacinamida/efeitos adversos , Terapia de Salvação/métodos , Sorafenibe
15.
Blood Coagul Fibrinolysis ; 27(1): 19-23, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26258676

RESUMO

Neonates born to mothers with immune thrombocytopenic purpura (ITP) have an increased risk of having thrombocytopenia and bleeding. The aim of our study was to determine maternal and fetal factors that can predict bleeding risk in neonates born to mothers with ITP, and effective treatment strategies by retrospective analysis of our single-center data. We performed a retrospective data review of neonates that were recorded as 'neonates born to mothers with ITP' in the Neonatal ICU of Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. Medical records of 36 neonates born from 35 mothers were analyzed. Among the 36 neonates born to mothers with ITP, thrombocytopenia (platelet count of less than 150 × 10/l) was detected in 20 (56.0%) neonates on the first day of life. Twelve of the 20 neonates with thrombocytopenia (60.0%) required treatment to increase the platelet counts. Clinical findings related to thrombocytopenia occurred in three (15.0%) neonates, but none of them presented with severe bleeding. There was no statistically significant association between neonatal lowest platelet count and maternal lowest platelet count, maternal platelet count at the time of delivery, and duration of thrombocytopenia, respectively. Neonates born to mothers with ITP have an increased tendency to develop thrombocytopenia, but severe bleeding is very rare in these neonates. Clinicians should pay special attention to follow these neonates. According to our results, both intravenous immunoglobulin and methyl prednisolone were found to be in equivalent efficacy for the treatment of neonatal thrombocytopenia due to maternal ITP.


Assuntos
Púrpura Trombocitopênica Idiopática , Adolescente , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Adulto Jovem
16.
Pediatr Transplant ; 20(2): 276-83, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26614176

RESUMO

There are few studies evaluating the use of IgM-enriched IVIG (Pentaglobin(®) ) in HSCT recipients. This study aimed to compare the efficacy of prophylactic use of IVIG versus prophylactic use of Pentaglobin(®) within the first 100 days after allogeneic HSCT. We performed a prospective, randomized study of the use of prophylactic IVIG versus prophylactic use of Pentaglobin(®) in patients after allogeneic HSCT. The first dose of IVIG or Pentaglobin(®) was given before conditioning regimen and after transplant was given on day +1, +8, +15, and +22. And then, it was given if IgG level was below 400 mg/dL. Twenty-seven patients in IVIG group and 32 patients in Pentaglobin(®) group were included in the study. There were no significant differences in the duration of neutropenia, hospitalization, fever, and in the number of pyrexial episode, septicemia, bacteremia, local infection, CMV infection, acute GVHD, VOD, and adverse events between the IVIG group and Pentaglobin(®) group. Randomized placebo-controlled trials are needed to conclude that utilization of IVIG or Pentaglobin(®) has no beneficial effect in HSCT.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Imunoglobulina A/administração & dosagem , Imunoglobulina M/administração & dosagem , Imunoglobulinas Intravenosas/administração & dosagem , Adolescente , Anemia Aplástica/terapia , Criança , Feminino , Humanos , Imunoglobulina G/química , Imunoglobulinas Intravenosas/uso terapêutico , Leucemia/terapia , Masculino , Síndromes Mielodisplásicas/terapia , Estudos Prospectivos , Transplante Homólogo , Resultado do Tratamento , Talassemia beta/terapia
17.
Pediatr Blood Cancer ; 63(4): 695-700, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26703084

RESUMO

BACKGROUND: Fanconi anemia (FA) is a heterogeneous autosomal recessive (and rarely X linked) disorder, which is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancies. Hematopoietic stem cell transplantation (HSCT) is the only definitive treatment for the hematological manifestations in FA. PROCEDURE: Twenty-seven patients with FA underwent HSCT using fludarabine (Flu) based regimen at our center between April 2004 and May 2014. One patient who developed acute leukemia before HSCT was excluded from the study. The remaining 26 patients were included. The median age of the patients at the time of transplantation was 9.6 years (range 5.6-17.0 years) and male/female ratio was 19/7. Donors were Human leukocyte antigen (HLA)-identical sibling in 18 patients, HLA-identical other relatives in six patients, and HLA 1-antigen mismatched sibling in two patients. Conditioning regimen consisted of Flu, cyclophosphamide, and antithymocyte globulin. RESULTS: All patients engrafted but one developed poor graft function and underwent second HSCT. Acute graft versus host disease (GVHD) (≥grade 2) occurred in two patients (7.6%) and chronic GVHD in one patient (3.9%). Three patients developed venoocclusive disease (11.5%). Survival rate was 96.2% (25/26) at a median follow-up of 54 months (10-131 months) and all patients who survived were in good clinical condition. None of the patients developed secondary malignancy during the follow-up period. CONCLUSIONS: The present study from Turkey, a middle-income country, shows successful transplant outcome with low toxicity using Flu-based conditioning in patients with FA who underwent HSCT from HLA-related donors.


Assuntos
Anemia de Fanconi/cirurgia , Transplante de Células-Tronco Hematopoéticas/métodos , Agonistas Mieloablativos/administração & dosagem , Condicionamento Pré-Transplante/métodos , Vidarabina/análogos & derivados , Adolescente , Soro Antilinfocitário/administração & dosagem , Soro Antilinfocitário/efeitos adversos , Criança , Pré-Escolar , Ciclofosfamida/administração & dosagem , Ciclofosfamida/efeitos adversos , Feminino , Doença Enxerto-Hospedeiro/epidemiologia , Humanos , Masculino , Agonistas Mieloablativos/efeitos adversos , Doadores de Tecidos , Turquia , Vidarabina/administração & dosagem
18.
Arch. argent. pediatr ; 113(6): e336-e340, dic. 2015. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-838147

RESUMO

La sarcoidosis, un trastorno multiorgánico de etiología desconocida que afecta varios órganos, es poco frecuente en los niños. Se desconocen la incidencia y la prevalencia reales de la sarcoidosis infantil. Al igual que en los adultos, muchos niños con sarcoidosis tal vez no presentan síntomas y la enfermedad cursa sin diagnosticarse. Es fundamental realizar una evaluación completa y sistemática del paciente para establecer el diagnóstico de sarcoidosis en los niños. Se describe el caso de una nina de 12 años con uveítis y hepatoesplenomegalia de dos años de evolución. Mediante una tomografía computarizada del tórax, se hallaron nódulos pulmonares periféricos dispersos y linfadenopatía hiliar bilateral. La aspiración de médula ósea y la biopsia de hígado no fueron diagnósticas. La biopsia de pulmón mostró granulomas de células epitelioides no necrosantes. A la paciente se le diagnosticó sarcoidosis en virtud del hallazgo de inflamación granulomatosa y de la exclusión de entidades confusoras.


Sarcoidosis, a multisystem disorder of unknown etiology that involves multiple organs, is rare in children. The true incidence and prevalence of childhood sarcoidosis is unknown. As in adults, many children with sarcoidosis may be asymptomatic; the disease may remain undiagnosed. A complete and systematic evaluation of the patient is essential for the sarcoidosis diagnosis in children. Here, we describe a case of 12-year-old female who presented with 2 years history of uveitis and hepatosplenomegaly. A chest computerized tomography revealed scattered peripheral pulmonary nodules and bilateral hiliar lymphadenopathy. Bone marrow aspiration and liver biopsy were not diagnostic. A lung biopsy showed non-necrotizing epithelioid cell granulomas. She was diagnosed with sarcoidosis according to demonstration of granulomatous inflammation and the exclusion of confusable entities


Assuntos
Humanos , Feminino , Criança , Pediatria , Sarcoidose/diagnóstico
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