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1.
Artigo em Inglês | MEDLINE | ID: mdl-32134842

RESUMO

Acute lymphoblastic leukemia (ALL) with hyperleukocytosis at diagnosis is associated with early morbidity and mortality due to complications of leukostasis. Of 535 pediatric ALL patients (January 2004 to December 2016 from the Yeungnam region of Korea), 72 (13.5%) patients with an initial white blood cell (WBC) count of ≥100×10/L were included in this study, of whom 38 patients had extreme hyperleukocytosis (WBC>200×10/L) at diagnosis. Fourteen patients (19.4%) had ≥1 early respiratory and neurological complications during induction therapy. Relapse occurred in 8 patients (24.2%) with extreme hyperleukocytosis and in 1 patient (3.0%) with an initial WBC count of 100 to 200×10/L (P=0.012). Estimated 10-year event-free survival rate (EFS) and overall survival rate were 78.3%±8.4% and 82.6%±7.7%, respectively. The 10-year EFS was significantly lower in patients with an initial WBC count of >200×10/L than in those with an initial WBC count of 100 to 200×10/L (65.7%±13.4% vs. 91.2%±7.9%; P=0.011). The 10-year EFS and overall survival rate did not differ significantly between patients with extreme hyperleukocytosis who received hematopoietic stem cell transplantation and those who received chemotherapy. In conclusion, pediatric ALL with hyperleukocytosis can lead to early complications and mortality. Patients with initial extreme hyperleukocytosis showed significantly poorer prognosis than those with WBC counts of 100 to 200×10/L.

2.
Pediatr Hematol Oncol ; 37(2): 129-139, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31852326

RESUMO

Genomic studies have illuminated the alterations in pathways underlying T-cell acute lymphoblastic leukemia (T-ALL) pathogenesis, but detailed mutation data by next-generation sequencing have not been reported in Korean patients. We aimed to investigate mutation frequency, spectrum, and pattern in the Korean patients with T-ALL. We designed a multigene panel targeting 101 genes and validated it using 10 reference materials. The mutation analysis was done in a total of 10 patients with T-ALL. Clinical data and laboratory tests including immunophenotyping, cytogenetics, and molecular genetic tests were also investigated. All of the 10 patients harbored at least one mutation (range 1-6 per patient). A total of 34 clinically significant mutations including 15 novel mutations were identified in 23 genes. The median of variant allelic frequencies (VAFs) and blasts were counted upto 33% (range 5-91%) and 79% (range 38-90%), respectively. Recurrent mutations were involved in epigenetic regulators (60%), NOTCH1 signaling (40%), PI3K-AKT (40%), JAK-STAT (30%), and transcription factors (30%). We found that both NOTCH signaling and JAK-STAT signaling were positively associated with epigenetic regulators, while showed mutually exclusive patterns with PI3K-AKT pathway. This study showed that the frequency of mutations in epigenetic regulators in Korean patients was significantly higher than expected. Distribution of VAF as well as mutation spectrum is considerably heterogeneous in Korean patients with T-ALL. Although from a limited number of patients, this study provides the first detailed mutational portrait of T-ALL of Korean patients, and gives additional insight into molecular pathogenesis of the disease.

3.
Artigo em Inglês | MEDLINE | ID: mdl-30720677

RESUMO

May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder caused by a mutation in the myosin heavy chain 9 (MYH9) gene. MHA patients have variable clinical manifestations including thrombocytopenia, renal injury, hearing impairment, and cataracts. We describe a 25-year-old man with isolated thrombocytopenia initially. He experienced recurrent seizures with stable thrombocytopenia after the first seizures related to intracranial hemorrhage. He was identified a novel c.3452C>T mutation by targeted exome sequencing. If a patient with thrombocytopenia shows recurrent seizures as well as renal, hearing, visual symptoms, MHA should be suspected and the targeted exome sequencing is considered an effective diagnostic tool.

4.
Lab Med ; 50(2): 138-144, 2019 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-30192966

RESUMO

BACKGROUND: Hyperbilirubinemia, which is a sign of hemolytic disease of the newborn (HDN), can irreversibly damage the central nervous system. OBJECTIVES: To determine the etiology of HDN in affected patients and characterize the changing pattern of bilirubin using direct antiglobulin testing (DAT). METHODS: We collected clinical data from newborns who underwent perinatal DAT and from their mothers, between August 2008 and July 2017. RESULTS: Among 303 neonates, 37 (12.2%) showed positive DAT results. The positive predictive values (PPVs) and negative predictive values (NPVs) based on DAT results were 75.7% and 28.9%, respectively, for starting phototherapy. Bilirubin levels increased more rapidly in the DAT-positive group, compared with the DAT-negative group. The initial bilirubin level differed significantly according to the etiology of hyperbilirubinemia. Further, neonates with anti-D showed higher delta bilirubin per day than neonates with other antibodies. CONCLUSION: Our results may help to determine the measurement period for bilirubin according to DAT results and etiology.


Assuntos
Bilirrubina/sangue , Teste de Coombs/métodos , Eritroblastose Fetal/sangue , Hiperbilirrubinemia/sangue , Eritroblastose Fetal/diagnóstico , Eritroblastose Fetal/terapia , Humanos , Hiperbilirrubinemia/diagnóstico , Hiperbilirrubinemia/etiologia , Hiperbilirrubinemia/terapia , Recém-Nascido , Fototerapia , Valor Preditivo dos Testes , Estudos Retrospectivos
5.
Ann Lab Med ; 39(2): 133-140, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30430775

RESUMO

BACKGROUND: Thalassemia is highly prevalent in Southeast Asia but is rare in Korea; however, Southeast Asian immigrant population is recently rising in Korea. We investigated the prevalence of thalassemia in Korea in the context of increasing immigration. METHODS: This prospective, observational, multicenter study was conducted between September 2015 and August 2017. A total of 669 subjects <30 years living in Korea were grouped into the multiethnic (N=314) and Korean (N=355) groups. Hb electrophoresis and complete blood count (CBC) were performed. If low mean corpuscular volume with high red blood cell distribution width coefficient of variation or a high fetal Hb (HbF) or Hb alpha 2 (HbA2) level was observed, genetic testing of the α- and ß-globin genes was performed. In addition, the number of potential thalassemia carriers in Korea was estimated by multiplying the prevalence of thalassemia in a specific ethnicity by the number of immigrants of that ethnicity. RESULTS: Twenty-six multiethnic and 10 Korean subjects showed abnormal results for Hb electrophoresis and CBC. Eighteen multiethnic subjects and four Korean subjects were tested for α-globin and ß-globin gene mutations. Within the multiethnic group, five subjects (1.5%) were α-thalassemia carriers, and six (1.9%) were ß-thalassemia minor. The SEA deletion in HBA1 and HBA2, and c. 126_129delCTTT (p.Phe42Leufs*19) mutation of HBB were the dominant inherited mutations. CONCLUSIONS: The prevalence of thalassemia in young people in Korea is increasing due to the increasing number of Southeast Asian immigrants.


Assuntos
Emigração e Imigração , Talassemia/diagnóstico , Adolescente , Adulto , Contagem de Células Sanguíneas , Criança , Pré-Escolar , Eletroforese , Feminino , Hemoglobina Fetal/análise , Hemoglobina Fetal/genética , Deleção de Genes , Testes Genéticos , Hemoglobina A2/análise , Hemoglobina A2/genética , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , República da Coreia/epidemiologia , Talassemia/epidemiologia , Talassemia/etnologia , Adulto Jovem
6.
Pediatr Transplant ; : e13249, 2018 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-29923253

RESUMO

We compared transplant outcomes between donor types and stem cell sources for childhood acute myeloid leukemia (AML). The medical records of children with AML in the Yeungnam region of Korea from January 2000 to June 2017 were reviewed. In all, 76 children with AML (male-to-female ratio = 46:30) received allogenic hematopoietic stem cell transplantation (allo-HSCT). In total, 29 patients received HSCT from either a matched-related donor or a mismatched-related donor, 32 patients received an unrelated donor, and 15 patients received umbilical cord blood. In term of stem cell sources, bone marrow was used in 15 patients and peripheral blood in 46 patients. For all HSCT cases, the 5-year overall survival (OS) was 73.1% (95% CI: 62.7-83.5) and the 5-year event-free survival (EFS) was 66.1% (95% CI: 54.5-77.7). There was no statistical difference in 5-year OS according to the donor types or stem cell sources (P = .869 and P = .911). There was no statistical difference in 5-year EFS between donor types or stem cell sources (P = .526 and P = .478). For all HSCT cases, the 5-year relapse rate was 16.1% (95% CI: 7.3-24.9) and the 5-year non-relapse mortality (NRM) was 13.3% (95% CI: 5.1-21.5). There was no statistical difference in the 5-year relapse rate according to the donor types or stem cell sources (P = .971 and P = .965). There was no statistical difference in the 5-year NRM between donor types or stem cell sources (P = .461 and P = .470).

7.
Pediatr Hematol Oncol ; 35(4): 276-287, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-30633619

RESUMO

OBJECTIVES: We aimed to evaluate treatment outcomes of pediatric acute lymphoblastic leukemia (ALL) subgroups by risk-stratification, in the Yeungnam region of Korea. METHODS: We reviewed the courses of 409 newly diagnosed ALL patients from January 2004 to December 2013 in the Yeungnam region. RESULTS: All patients were classified into three risk groups: standard risk (SR, n=212), high risk (HR, n=153) and very high risk (VHR, n=44). The mean follow-up time was 73.6 ± 39.4 months. The 7-year event-free survival (EFS) and overall survival (OS) rates were 78.7 ± 2.1% and 86.8 ± 1.8%, respectively. Significant 7-year EFS and OS rates for SR (84.0 ± 2.7%, 93.7 ± 1.8%), HR (76.5 ± 3.5%, 82.1 ± 3.3%), and VHR (60.6 ± 7.5%, 69.9 ± 7.5%) were observed (P<0.001), respectively. Relapse occurred in 52 patients, and the cumulative 7-year incidence of relapse differed according to risk groups (SR vs. HR vs. VHR=12.6% vs. 14.0% vs. 29.6%, P=0.003).For the 46 relapsed patients who were treated, the 3-year EFS and OS were 42.3 ± 8.3%and 46.4± 8.4%. Among the 44 VHR patients, EFS was not significantly different between the chemotherapy-treated patients and those received hematopoietic stem cell transplantation (P=0.533). The 7-year EFS of the hyperleukocytosis subgroup (24 cases, 14 under 10 years of age)showed a tendency for better prognosis than that of the other VHR subgroups (P=0.178). CONCLUSION: Our results revealed improved outcomes in pediatric ALL patients with risk-stratified therapy. The hyperleukocytosis subgroup without any combined chromosomal abnormalities may respond favorably to chemotherapy alone after first complete remission.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/farmacologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , República da Coreia , Estudos Retrospectivos , Medição de Risco , Resultado do Tratamento , Adulto Jovem
8.
J Pediatr Hematol Oncol ; 39(8): e508-e511, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-29068869

RESUMO

Intravenous immunoglobulin (IVIG) is a widely used agent as the first choice of treatment of immune thrombocytopenic purpura (ITP). IVIG has several side effects, but it is a relatively safe treatment. Life-threatening thrombosis has been reported in adults and rarely in children. We report a case of a 14-year-old boy with dural venous sinus thrombosis and pulmonary embolism after treatment with IVIG for ITP. The patient was treated with low-molecular-weight heparin followed by warfarin and the symptoms were recovered. If a patient with ITP shows mental change or respiratory difficulty, we should consider thrombosis as well as hemorrhage.


Assuntos
Embolia Pulmonar/diagnóstico , Embolia Pulmonar/etiologia , Púrpura Trombocitopênica Idiopática/complicações , Trombose dos Seios Intracranianos/diagnóstico , Trombose dos Seios Intracranianos/etiologia , Adolescente , Anticoagulantes/uso terapêutico , Biópsia , Medula Óssea/patologia , Testes Hematológicos , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Angiografia por Ressonância Magnética , Masculino , Embolia Pulmonar/tratamento farmacológico , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/terapia , Trombose dos Seios Intracranianos/tratamento farmacológico , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Trombose Venosa/diagnóstico , Trombose Venosa/etiologia , Varfarina/uso terapêutico
9.
Korean J Pediatr ; 60(7): 227-231, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28861114

RESUMO

PURPOSE: This study aimed to verify the safety of low-dose topiramate on language development in pediatric patients with migraine. METHODS: Thirty newly diagnosed pediatric patients with migraine who needed topiramate were enrolled and assessed twice with standard language tests, including the Test of Language Problem Solving Abilities (TOPs), Receptive and Expressive Vocabulary Test, Urimal Test of Articulation and Phonology, and computerized speech laboratory analysis. Data were collected before treatment, and topiramate as monotherapy was sustained for at least 3 months. The mean follow-up period was 4.3±2.7 months. The mean topiramate dosage was 0.9 mg/kg/day. RESULTS: The patient's mean age was 144.1±42.3 months (male-to-female ratio, 9:21). The values of all the language parameters of the TOPs were not changed significantly after the topiramate treatment as follows: Determine cause, from 15.0±4.4 to 15.4±4.8 (P>0.05); making inference, from 17.6±5.6 to 17.5±6.6 (P>0.05); predicting, from 11.5±4.5 to 12.3±4.0 (P>0.05); and total TOPs score, from 44.1± 13.4 to 45.3±13.6 (P>0.05). The total mean length of utterance in words during the test decreased from 44.1±13.4 to 45.3±13.6 (P<0.05). The Receptive and Expressive Vocabulary Test results decreased from 97.7±22.1 to 96.3±19.9 months, and from 81.8±23.4 to 82.3±25.4 months, respectively (P>0.05). In the articulation and phonology validation in both groups, speech pitch and energy were not significant, and all the vowel test results showed no other significant values. CONCLUSION: No significant difference was found in the language-speaking ability between the patients; however, the number of vocabularies used decreased. Therefore, topiramate should be used cautiously for children with migraine.

10.
Korean J Pediatr ; 60(6): 189-195, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28690646

RESUMO

PURPOSE: The purpose of this study was to investigate the effects of lamotrigine for the treatment of attention-deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy. METHODS: Pediatric patients newly diagnosed with epilepsy (n=90 [61 boys and 29 girls]; mean age, 9.1±3.4 years) were enrolled. All patients were evaluated with the Korean ADHD rating scale (K-ARS)-IV before treatment with lamotrigine and after doses had been administered. The mean interval of ADHD testing was approximately 12.3 months. The initial dosage of lamotrigine was 1 mg/kg/day (maximum 25 mg/day for the first 2 weeks), and increased by 1 mg/kg every 2 weeks until titrated up to 7 mg/kg/day (or maximum 200 mg/day). RESULTS: The mean ADHD test score of the 90 subjects was 17.0±1.8 at baseline. It was slightly reduced to 15.6±1.7 after lamotrigine monotherapy (P >0.01). Prior to treatment, a total of 31 patients (34.4%) met the diagnostic criteria for ADHD according to Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision, Of these 31 patients, 27 (87.1%) had significantly improved ADHD scores with lamotrigine monotherapy (28.0±1.6 reduced to 18.1±2.6, P<0.001). Among these 27 patients, 25 (92.6%) showed normalized electroencephalogram (EEG) and 26 (96.3%) achieved total freedom from seizures within 12 months of the initiation of lamotrigine monotherapy. CONCLUSION: The results from our study show that lamotrigine had a positive effect in pediatric epilepsy patients by reducing ADHD symptoms, preventing seizures, and normalizing EEG. However, further research is required to determine whether lamotrigine is efficacious against ADHD symptoms independent of its effects on epileptic seizures.

11.
Korean J Fam Med ; 36(3): 150-3, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-26019766

RESUMO

Adrenocortical carcinoma (ACC) in pediatric and adolescent patients is rare, and it is associated with various clinical symptoms. We introduce the case of an 8-year-old boy with ACC who presented with peripheral precocious puberty at his first visit. He displayed penis enlargement with pubic hair and facial acne. His serum adrenal androgen levels were elevated, and abdominal computed tomography revealed a right suprarenal mass. After complete surgical resection, the histological diagnosis was ACC. Two months after surgical removal of the mass, he subsequently developed central precocious puberty. He was treated with a gonadotropin-releasing hormone agonist to delay further pubertal progression. In patients with functioning ACC and surgical removal, clinical follow-up and hormonal marker examination for the secondary effects of excessive hormone secretion may be a useful option at least every 2 or 3 months after surgery.

12.
Korean J Pediatr ; 58(4): 136-41, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25932035

RESUMO

PURPOSE: Continuous intravenous access is imperative in emergency situations. Ultrasound-guided internal jugular vein (IJV) catheterization was investigated in critically ill pediatric patients to assess the feasibility of the procedure. METHODS: Patients admitted to the pediatric intensive care unit between February 2011 and September 2012 were enrolled in this study. All patients received a central venous catheter from attending house staff under ultrasound guidance. Outcome measures included successful insertion of the catheter, cannulation time, number of cannulation attempts, and number and type of resulting complications. RESULTS: Forty-one central venous catheters (93.2%) were successfully inserted into 44 patients (21 males and 23 females; mean age, 6.54±1.06 years). Thirty-three patients (75.0%) had neurological disorders. The right IJV was used for catheter insertion in 34 cases (82.9%). The mean number of cannulation attempts and the mean cannulation time was 1.57±0.34 and 14.07±1.91 minutes, respectively, the mean catheter dwell time was 14.73±2.5 days. Accidental catheter removal was observed in 9 patients (22.0%). Six patients (13.6%) reported complications, the most serious being catheter-related sepsis, which affected 1 patient (2.3%). Other complications included 2 reported cases of catheter malposition (4.6%), and 1 case each of arterial puncture (2.3%), pneumothorax (2.3%), and skin infection (2.3%). CONCLUSION: The results suggest that ultrasound-guided IJV catheterization can be performed easily and without any serious complications in pediatric patients, even when performed by visiting house staff. Therefore, ultrasound-guided IJV catheterization is strongly recommended for critically ill pediatric patients.

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