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1.
Cell ; 168(6): 1053-1064.e15, 2017 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-28283061

RESUMO

Cytokines are classically thought to stimulate downstream signaling pathways through monotonic activation of receptors. We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoietin (EPO). Surprisingly, the EPO R150Q mutant shows only a mild reduction in affinity for its receptor but has altered binding kinetics. The EPO mutant is less effective at stimulating erythroid cell proliferation and differentiation, even at maximally potent concentrations. While the EPO mutant can stimulate effectors such as STAT5 to a similar extent as the wild-type ligand, there is reduced JAK2-mediated phosphorylation of select downstream targets. This impairment in downstream signaling mechanistically arises from altered receptor dimerization dynamics due to extracellular binding changes. These results demonstrate how variation in a single cytokine can lead to biased downstream signaling and can thereby cause human disease. Moreover, we have defined a distinct treatable form of anemia through mutation identification and functional studies.


Assuntos
Anemia de Diamond-Blackfan/genética , Anemia de Diamond-Blackfan/patologia , Eritropoetina/genética , Mutação de Sentido Incorreto , Transdução de Sinais , Anemia de Diamond-Blackfan/terapia , Criança , Consanguinidade , Ativação Enzimática , Eritropoese , Eritropoetina/química , Feminino , Humanos , Janus Quinase 2/metabolismo , Cinética , Masculino , Receptores da Eritropoetina/química , Receptores da Eritropoetina/genética , Receptores da Eritropoetina/metabolismo
2.
Br J Haematol ; 205(1): 236-242, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38811201

RESUMO

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.


Assuntos
Anemia Hemolítica Congênita não Esferocítica , Íntrons , Piruvato Quinase , Erros Inatos do Metabolismo dos Piruvatos , Humanos , Piruvato Quinase/deficiência , Piruvato Quinase/genética , Masculino , Feminino , Erros Inatos do Metabolismo dos Piruvatos/genética , Criança , Pré-Escolar , Anemia Hemolítica Congênita não Esferocítica/genética , Turquia , Lactente , Adolescente , Mutação
3.
BMC Med Inform Decis Mak ; 21(1): 170, 2021 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-34034715

RESUMO

BACKGROUND: Coronavirus disease 2019 (COVID-19) has become a pandemic since its first appearance in late 2019. Deaths caused by COVID-19 are still increasing day by day and early diagnosis has become crucial. Since current diagnostic methods have many disadvantages, new investigations are needed to improve the performance of diagnosis. METHODS: A novel method is proposed to automatically diagnose COVID-19 by using Electrocardiogram (ECG) data with deep learning for the first time. Moreover, a new and effective method called hexaxial feature mapping is proposed to represent 12-lead ECG to 2D colorful images. Gray-Level Co-Occurrence Matrix (GLCM) method is used to extract features and generate hexaxial mapping images. These generated images are then fed into a new Convolutional Neural Network (CNN) architecture to diagnose COVID-19. RESULTS: Two different classification scenarios are conducted on a publicly available paper-based ECG image dataset to reveal the diagnostic capability and performance of the proposed approach. In the first scenario, ECG data labeled as COVID-19 and No-Findings (normal) are classified to evaluate COVID-19 classification ability. According to results, the proposed approach provides encouraging COVID-19 detection performance with an accuracy of 96.20% and F1-Score of 96.30%. In the second scenario, ECG data labeled as Negative (normal, abnormal, and myocardial infarction) and Positive (COVID-19) are classified to evaluate COVID-19 diagnostic ability. The experimental results demonstrated that the proposed approach provides satisfactory COVID-19 prediction performance with an accuracy of 93.00% and F1-Score of 93.20%. Furthermore, different experimental studies are conducted to evaluate the robustness of the proposed approach. CONCLUSION: Automatic detection of cardiovascular changes caused by COVID-19 can be possible with a deep learning framework through ECG data. This not only proves the presence of cardiovascular changes caused by COVID-19 but also reveals that ECG can potentially be used in the diagnosis of COVID-19. We believe the proposed study may provide a crucial decision-making system for healthcare professionals. SOURCE CODE: All source codes are made publicly available at: https://github.com/mkfzdmr/COVID-19-ECG-Classification.


Assuntos
COVID-19 , Aprendizado Profundo , Eletrocardiografia , Humanos , Redes Neurais de Computação , SARS-CoV-2
4.
Turk J Med Sci ; 50(1): 18-24, 2020 02 13.
Artigo em Inglês | MEDLINE | ID: mdl-31655501

RESUMO

Background/aim: Non-Wilms renal tumors (NWRTs) are rarely encountered in children. The aim of this study is to determine the treatment strategies, prognosis, outcomes, and survival of children with NWRTs at Erciyes University in Kayseri, Turkey. Materials and methods: Medical records of all patients (n = 20) treated for NWRTs over a 23-year period (1995­2018) were reviewed retrospectively. Results: There was male predominance (female/male: 7/13); the median age at diagnosis was 3.2 years old (0.1­13.5 years old). The major histological groups included mesoblastic nephroma (MBN), (n: 5, 25%), malignant rhabdoid tumor (MRT), (n: 5, 25%), renal cell carcinoma, (n: 3, 15%), inflammatory myofibroblastic tumor (n: 2, 10%), multilocular cystic renal tumors (n: 2, 10%), metanephric adenoma (n: 1, 5%), renal neuroblastoma (n: 1, 5%), and bilateral renal Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) (n: 1, 5%). All of the patients with NWRTs had radical nephrectomy except the child with bilateral renal ES/PNET. Six children died because of progressive disease; the mortality rate was 30% (n: 6). Conclusion: We have made the first report of bilateral renal involvement of ES/PNET in the English medical literature. Physicians dealing with pediatric renal masses should be alert to the high mortality rate in children with MRT, MBN, and ES/PNET and they should design substantial management plans for NWRTs.


Assuntos
Neoplasias Renais/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Masculino , Nefrectomia
5.
J Thromb Thrombolysis ; 47(4): 578-584, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30656483

RESUMO

Ischemic stroke is a significant health condition, whose frequency in childhood is increasing day by day. Although many factors are effective in development of the stroke, it has been showed that individuals having risk factors have a genetic predisposition. The aim of the study is to determine whether distinct genetic mutations are risk factors for children with history of ischemic stroke. Our sample data is taken from 58 patients (29 male and 29 female) who applied our hospital between 2012 and 2016 with diagnosis of acute or chronic arterial stroke and from 70 healthy children (32 male and 38 female) with similar particularities in the sense of age and sex, who have not any chronical disease. Blood samples are taken from each child participated in the study to conduct genetic analysis. It has been examined whether a mutation exists in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736). Moreover, whether there are significant difference between patient and control group has been investigated. In the genetic analysis of patients and control groups, no significant difference has been found for any of the genes. Mutations in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736) are not risk factors for ischemic stroke in childhood. However this study showed us, the patients who inherit CDKN2B-AS1 and HDCA9 gene mutations had poor prognosis. However, this study should be replicated for a wider sample of patient population.


Assuntos
Isquemia Encefálica/genética , Moléculas de Adesão Celular Neuronais/genética , Inibidor de Quinase Dependente de Ciclina p15/genética , Predisposição Genética para Doença , Histona Desacetilases/genética , Mutação , Acetiltransferase N-Terminal B/genética , Proteínas Repressoras/genética , Acidente Vascular Cerebral/genética , Criança , Feminino , Humanos , Masculino , Fatores de Risco
6.
Childs Nerv Syst ; 34(4): 655-661, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29209887

RESUMO

BACKGROUND: Stroke is rarely seen in children, but it is a major cause of morbidity and mortality. Therefore, there is a need for inexpensive and noninvasive diagnostic methods for estimating the prognosis. Although the prognostic importance of hematological parameters in acute ischemic stroke were reported in adult studies, there is a lack in pediatric ages. The aim of the study is to investigate the relationship between hematological parameters and prognosis of acute ischemic stroke in children. METHODS: Retrospectively scanned in the study were 106 pediatric patients with acute ischemic stroke who managed at the Medical Faculty of Erciyes University, Kayseri, between the years of 2000 and 2014. White blood count (WBC); neutrophil, lymphocyte, and platelet count; mean platelet volume (MPV); platelet distribution width (PDW); neutrophil count/lymphocyte count (N/L) ratio values obtained from the measurements and initial symptoms; demographical features; risk factors; neurological examination; and clinical follow-up were recorded. Their hematological parameters were compared with those of 106 age and sex-matched healthy individuals. RESULTS: MPV and PDW values were found similar in patient and control groups, and the platelet count was found significantly low in the control group (p = 0,028). WBC, neutrophil count, and N/L ratio were found considerably high in the patient group (p < 0.001). Lymphocyte count, however, was found significantly low in the control group (p < 0.001). No statistically significant difference was detected in WBC, neutrophil count, lymphocyte count, platelet count, N/L ratio, and MPV and PDW values between the group with sequelae and the one without sequelae. In addition, it was determined that WBC, neutrophil count, lymphocyte count, platelet count, N/L ratio, and MPV and PDW values in the univariate Cox-regression analysis of the patient group had no effect on survival and disease-free survival. When receiver operating characteristic curve was applied, it was observed that the area below WBC, N/L ratio curve was important in the patient group in terms of predicting acute ischemic stroke. CONCLUSION: The values of WBC, neutrophil count, and N/L ratio differ significantly from those of the control group. The WBC and N/L ratio may help for an earlier diagnosis in children with acute ischemic stroke. WBC, thrombocyte count, MPV, PDW, and N/L ratio do not constitute a risk in overall survival, disease-free survival, and sequelae development.


Assuntos
Isquemia Encefálica/complicações , Testes Hematológicos/métodos , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/etiologia , Adolescente , Proteína C-Reativa , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Contagem de Leucócitos , Contagem de Linfócitos , Linfócitos/patologia , Masculino , Neutrófilos/patologia , Contagem de Plaquetas , Curva ROC , Análise de Regressão , Estudos Retrospectivos
7.
Childs Nerv Syst ; 33(2): 233-238, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27942922

RESUMO

PURPOSE: The aim of this study is to describe the relationship of pre-operative complete blood count parameters [mean platelet volume (MPV), neutrophil/lymphocyte count ratio (NLCR), and white blood cell count (WBC)], with the clinical, radiological, and histopathological features and the management options for patients under 3 years of age with a newly diagnosed central nervous system tumors. METHODS: Children with central nervous system (CNS) tumors in the first 3 years of life admitted in the Erciyes University Hospital between April 2004 and April 2014 were enrolled in this study. The CBC parameters were compared with those of an age- and sex-matched normal control group. RESULTS: In the study group, the means of MPV and WBC were 8.00 ± 1.24 fl, and 10,855 ± 3642/mm3 respectively; the median (25-75%) of NLCR was 0.98 (0.66-1.46). For the control group, the means of MPV and WBC were 6.8 ± 0.73 fl and 8565 ± 2522/mm3; the median (25-75%) of NLCR was 0.52 (0.36-0.70). The MPV, WBC, and NLCR were higher in the study group. The median overall survival (OS) of the patients was 60 months (range 0-81.6 months); and median event free survival (EFS) was 24 months (range 0-70.1 months). The formulation of MPV, NLCR, and WBC was found to be predictive for the diagnosis of CNS tumor in children with nonspecific symptoms. The univariate and multiple binary regression analyses showed a positive association of MPV, NLCR, and WBC and the risk of a diagnosis of CNS tumor. There was no relationship between MPV, WBC, NLCR, and histological subgroups. However, there were no associations between CBC parameters and OS or EFS of the patients. CONCLUSIONS: By causing suspicion, MPV, NLCR, and WBC may provide both an earlier radiological investigation decision and thereby an early diagnosis of CNS tumor in children with nonspecific symptoms in the first 3 years of life.


Assuntos
Neoplasias do Sistema Nervoso Central/patologia , Contagem de Leucócitos , Contagem de Linfócitos , Fatores Etários , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Volume Plaquetário Médio , Contagem de Plaquetas , Estudos Retrospectivos , Estatísticas não Paramétricas
8.
Blood ; 123(24): 3811-7, 2014 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-24753537

RESUMO

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor. Family A, with 3 affected children, carried a homozygous missense mutation (NM_000760.3:c.922C>T, NP_000751.1:p.Arg308Cys), which resulted in perturbed N-glycosylation and aberrant localization to the cell surface. Family B, with 1 affected infant, carried compound heterozygous deletions provoking frameshifts and premature stop codons (NM_000760.3:c.948_963del, NP_000751.1:p.Gly316fsTer322 and NM_000760.3:c.1245del, NP_000751.1:p.Gly415fsTer432). Despite peripheral SCN, all patients had morphologic evidence of full myeloid cell maturation in bone marrow. None of the patients responded to treatment with recombinant human G-CSF. Our study highlights the genetic and morphologic SCN variability and provides evidence both for functional importance and redundancy of G-CSF receptor-mediated signaling in human granulopoiesis.


Assuntos
Mutação de Sentido Incorreto , Neutropenia/congênito , Receptores de Fator Estimulador de Colônias/genética , Sequência de Bases , Criança , Pré-Escolar , Síndrome Congênita de Insuficiência da Medula Óssea , Feminino , Células HeLa , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Modelos Moleculares , Neutropenia/genética , Linhagem , Receptores de Fator Estimulador de Colônias/química
9.
Clin Lab ; 61(9): 1289-95, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26554249

RESUMO

BACKGROUND: Nucleated red blood cells (NRBC) can be used as a marker of erythropoietic stress and help optimize transfusion therapy in patients with beta thalassemia major. The aim of this study was to determine this correlation; and compare two automated systems (Sysmex XE-2100, and Advia 2120i) with manual microscopy and flow cytometry (FCM). METHODS: Absolute NRBC counts and percentages (NRBC%) from 51 patients were analyzed with both automated and reference methods. The results were compared with levels of pre-transfusion hemoglobin and ferritin levels. RESULTS: The mean age of the included patients (31 female, 20 male) were 12.9 ± 7.5 years. Mean levels of hemoglobin and ferritin were 9.5 ± 1.2 g/dL and 1896 ± 1194 ng/mL respectively. The NRBC% of two instruments did not significantly differ and correlated well (p < 0.0001, r2 = 0.984). NRBC% obtained with the XE-2100 and Advia 2120i versus manual microscopy also yielded high correlations (r2 = 0.951 and r2 0.981, respectively); however, absolute NRBC counts versus FCM yielded lower coefficients (r2 = 0.723 and r2 = 0.694, respectively). High serum ferritin levels were correlated with both NRBC% and counts with both instruments (p < 0.001) and hemoglobin levels lower than 9.0 g/dL had a negative correlation with NRBC% and NRBC counts with the Advia 2120i (p < 0.05, r = -0.495) but not with the XE-2100. CONCLUSIONS: Monitoring of NRBC% with both instruments can help optimize transfusion therapy for patients with beta thalassemia major. Following the NRBC% is more efficient than absolute counts.


Assuntos
Eritroblastos , Contagem de Eritrócitos/instrumentação , Talassemia beta/sangue , Adolescente , Adulto , Área Sob a Curva , Automação , Criança , Pré-Escolar , Contagem de Eritrócitos/métodos , Feminino , Ferritinas/sangue , Citometria de Fluxo/instrumentação , Citometria de Fluxo/métodos , Hemoglobinas/análise , Humanos , Masculino , Microscopia/instrumentação , Microscopia/métodos , Reprodutibilidade dos Testes
10.
J Allergy Clin Immunol ; 133(5): 1410-9, 1419.e1-13, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24698316

RESUMO

BACKGROUND: Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for HIES are mutations in signal transducer and activator of transcription 3 (STAT3) and dedicator of cytokinesis 8 (DOCK8), which are involved in signal transduction pathways. However, glycosylation defects have not been described in patients with HIES. One crucial enzyme in the glycosylation pathway is phosphoglucomutase 3 (PGM3), which catalyzes a key step in the synthesis of uridine diphosphate N-acetylglucosamine, which is required for the biosynthesis of N-glycans. OBJECTIVE: We sought to elucidate the genetic cause in patients with HIES who do not carry mutations in STAT3 or DOCK8. METHODS: After establishing a linkage interval by means of SNPchip genotyping and homozygosity mapping in 2 families with HIES from Tunisia, mutational analysis was performed with selector-based, high-throughput sequencing. Protein expression was analyzed by means of Western blotting, and glycosylation was profiled by using mass spectrometry. RESULTS: Mutational analysis of candidate genes in an 11.9-Mb linkage region on chromosome 6 shared by 2 multiplex families identified 2 homozygous mutations in PGM3 that segregated with disease status and followed recessive inheritance. The mutations predict amino acid changes in PGM3 (p.Glu340del and p.Leu83Ser). A third homozygous mutation (p.Asp502Tyr) and the p.Leu83Ser variant were identified in 2 other affected families, respectively. These hypomorphic mutations have an effect on the biosynthetic reactions involving uridine diphosphate N-acetylglucosamine. Glycomic analysis revealed an aberrant glycosylation pattern in leukocytes demonstrated by a reduced level of tri-antennary and tetra-antennary N-glycans. T-cell proliferation and differentiation were impaired in patients. Most patients had developmental delay, and many had psychomotor retardation. CONCLUSION: Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype.


Assuntos
Cromossomos Humanos Par 6/genética , Doenças Genéticas Inatas/genética , Homozigoto , Imunidade/genética , Imunoglobulina E , Síndrome de Job/genética , Mutação de Sentido Incorreto , Fosfoglucomutase/genética , Adulto , Substituição de Aminoácidos , Proliferação de Células , Criança , Cromossomos Humanos Par 6/metabolismo , Feminino , Doenças Genéticas Inatas/enzimologia , Doenças Genéticas Inatas/imunologia , Ligação Genética , Glicosilação , Humanos , Lactente , Síndrome de Job/enzimologia , Síndrome de Job/imunologia , Masculino , Fosfoglucomutase/imunologia , Fosfoglucomutase/metabolismo , Linfócitos T/enzimologia , Linfócitos T/imunologia , Tunísia
11.
Childs Nerv Syst ; 30(10): 1737-41, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24917491

RESUMO

BACKGROUND: Widespread alveolar rhabdomyosarcoma (ARMS) with bone marrow involvement and with an unknown primary tumor, especially presenting with acute tumor lysis syndrome can be easily misdiagnosed as a hematological malignancy. Furthermore, brain metastasis of ARMS is rare seen in children. CASE REPORT: Herein, we report a 14-year-old boy presenting with acute tumor lysis syndrome due to bone marrow invasion of ARMS, who was diagnosed after abdominal paraaortic lymph node biopsy. Despite radiological and nuclear medicine imaging, the primary tumor site could not be found. He was treated with vincristine, topotecan, and cyclophosphamide for 42 weeks. Six months after the completion of treatment, he suffered from severe headache, blurred vision, right hemiplegia, and severe bone pain. Cranial magnetic resonance imaging showed multiple hemorrhagic infarctions. Brain biopsy showed brain metastasis with PAX3-FKHR fusion transcript. CONCLUSION: The clinicians must be vigilant about solely brain metastasis in ARMS without additional metastasis.


Assuntos
Neoplasias Encefálicas/secundário , Neoplasias Hematológicas/fisiopatologia , Rabdomiossarcoma Alveolar/patologia , Adolescente , Antineoplásicos/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Hematológicas/genética , Humanos , Masculino , Proteínas de Fusão Oncogênica/genética , Fatores de Transcrição Box Pareados/genética
12.
Childs Nerv Syst ; 30(8): 1375-82, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24752706

RESUMO

PURPOSE: Vitamin K deficiency bleeding is one of the most common causes of acquired hemostatic disorder in early infancy. Although vitamin K is practiced routinely after every birth in Turkey, children with type of vitamin K deficiency bleedings (L-VKDB) can be encountered. We aimed to evaluate the clinical features of the children with L-VKDB reported from Turkey. METHODS: Between 1995 and 2013, 48 studies reporting 534 children with L-VKDB were evaluated in this study. RESULTS: Of the 534 reported children (178 girls, 356 boys), 486 (91 %) were extremely breastfed. The most common bleeding sites were intracranial hemorrhage, gastrointestinal, and umbilical in 414 (77.4 %), 33 (6.2 %), and 33 (6.2 %) children, respectively, and 35 (6.6 %) children had been diagnosed incidentally without any bleeding. The etiology of 399 (74.7 %) children were classified as idiopathic, whereas 135 (25.3 %) were secondary. Intramuscular vitamin K was administered in 248 (46.4 %), not administered in 228 (42.7 %), and the administration of vitamin K were not determined in 58 (10.9 %) children. The outcomes of Turkish cohort showed that 111 (20.8) children died, 257 (48.1 %) cases developed neurologic deficit (mainly epilepsy and psychomotor retardation), and only 166 (31.1 %) patients recovered without squeal. CONCLUSIONS: The compliance of prophylactic measures in Turkey does not seem to be satisfactory. As a further measure of tomorrow, we vigorously emphasize that a national surveillance program may be initiated. An additional intramuscular dose or oral supplementation of vitamin K especially for exclusively breast-fed infants may reduce this catastrophic problem in our country.


Assuntos
Hemorragias Intracranianas/etiologia , Sangramento por Deficiência de Vitamina K/complicações , Bases de Dados Factuais/estatística & dados numéricos , Feminino , Humanos , Lactente , Hemorragias Intracranianas/epidemiologia , Hemorragias Intracranianas/prevenção & controle , Masculino , Estudos Retrospectivos , Turquia/epidemiologia , Vitamina K/uso terapêutico , Sangramento por Deficiência de Vitamina K/epidemiologia
13.
Biomed Phys Eng Express ; 10(4)2024 05 14.
Artigo em Inglês | MEDLINE | ID: mdl-38697029

RESUMO

Plasma medicine is gaining attraction in the medical field, particularly the use of cold atmospheric plasma (CAP) in biomedicine. The chemistry of the plasma is complex, and the reactive oxygen species (ROS) within it are the basis for the biological effect of CAP on the target. Understanding how the oxidative power of ROS responds to diverse plasma parameters is vital for standardizing the effective application of CAP. The proven applicability of machine learning (ML) in the field of medicine is encouraging, as it can also be applied in the field of plasma medicine to correlate the oxidative strength of plasma-treated water (PTW) according to different parameters. In this study, plasma-treated water was mixed with potassium iodide-starch reagent for color formation that could be linked to the oxidative capacity of PTW. Corresponding images were captured resulting from the exposure of the color-forming agent to water treated with plasma for different time points. Several ML models were trained to distinguish the color changes sourced by the oxidative strength of ROS. The AdaBoost Classifier (ABC) algorithm demonstrated better performance among the classification models used by extracting color-based features from the images. Our results, with a test accuracy of 63.5%, might carry a potential for future standardization in the field of plasma medicine with an automated system that can be created to interpret the oxidative properties of ROS in different plasma treatment parameters via ML.


Assuntos
Algoritmos , Aprendizado de Máquina , Oxirredução , Gases em Plasma , Espécies Reativas de Oxigênio , Água , Gases em Plasma/química , Água/química , Cor
14.
Eur J Pediatr ; 172(9): 1283, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23661236

RESUMO

Herein, we described 16-year-old boy with pulmonary cysts in both lung fields and diagnosed as isolated pulmonary Langerhans cell histiocytosis.


Assuntos
Histiocitose de Células de Langerhans/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adolescente , Humanos , Masculino
15.
J Pediatr Hematol Oncol ; 34(2): e49-52, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22246155

RESUMO

OBJECTIVE: The aim of the present study was to report the frequency of ß-thalassemia trait and other hemoglobinopathies in Kayseri province, which is located in Middle Anatolia of Turkey, as part of the premarital screening program. METHODS: The study included subjects admitted to Family Planning Center for premarital screening test between January 2009 and March 2010. Blood samples of the couples were obtained during admission to the marriage office. Complete blood counts and hemoglobin (Hb) variant analysis were performed with automatic counter and capillary electrophoresis. RESULTS: A total of 10,261 people were screened. The prevalence of patients with the ß-thalassemia trait was 1.71% (175/10261). Moreover, HbD Punjab and HbO Arab were the most common Hb variants after ß-thalassemia trait with the frequencies of 0.36% and 0.09%, respectively. Only 2 HbS were detected in 15 months of screening time. In 2 couples both partners were found to be carriers of ß-thalassemia trait, and both partners of 1 couple to be carrier of HbD. CONCLUSIONS: Kayseri is not a high-risk region according to Mediterranean parts of Turkey, but the city takes migrations apart from neighbor cities, migrations from East and South provinces because of its geographic and industrial situation. For that reason detecting carrier couples with premarital screening program is an effective way of controlling thalassemia major.


Assuntos
Programas de Rastreamento , Exames Pré-Nupciais , Talassemia beta/epidemiologia , Adulto , Feminino , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Humanos , Masculino , Prevalência , Turquia/epidemiologia , Adulto Jovem
16.
Childs Nerv Syst ; 28(2): 247-51, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21928065

RESUMO

BACKGROUND: Deficiency of vitamin K predisposes to early, classic, or late vitamin K deficiency bleeding (VKDB), of which late VKDB may be associated with serious and life-threatening intracranial bleeding. Late VKDB is characterized with intracranial bleeding in infants aged 2-24 weeks due to severe vitamin K deficiency, occurring primarily in exclusively breast-fed infants. Late VKDB is still an important cause of mortality and morbidity in developing countries. MATERIALS AND METHODS: We presented 120 cases of late VKDB, which were evaluated at Erciyes University Medical Faculty Hospital between June 1990 and June 2006. RESULTS: Signs and symptoms of the patients were bulging fontanels (70%); irritabilities (50%); convulsions (49%); bleeding and ecchymosis (47%); feeding intolerance, poor sucking, and vomiting (46%); diarrhea (34%); jaundice (11%); and pallor (9%), and among these infants, 21% received medication before the diagnosis (10%, antibiotics; 3%, simethicone; 4%, paracetamol; and 4%, phenobarbital). Intracranial hemorrhage in 88 (73%) patients has been observed. The hemorrhage was subdural in 34 (28%) cases, intracerebral in 28 (23%), subarachnoid in 17 (14%), intraventricular in 9 (8%), intracerebral and subdural in 12 (10%), subdural and subarachnoid in 6 (5%), and combination of intracerebral, subdural, and intraventricular in 14 (12%), and the mortality rate was 31%. CONCLUSION: Although late VKDB leads to significant morbidity and mortality, it can be avoided by providing vitamin K prophylaxis to all newborns. Administration of vitamin K (1 mg) at birth can prevent intracranial bleeding and other hemorrhagic manifestations.


Assuntos
Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/etiologia , Deficiência de Vitamina K/complicações , Deficiência de Vitamina K/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Hemorragias Intracranianas/mortalidade , Masculino , Estudos Retrospectivos , Deficiência de Vitamina K/mortalidade
17.
Childs Nerv Syst ; 28(10): 1801-5, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22820755

RESUMO

INTRODUCTION: Hemangioblastomas (HBLs) comprise approximately 2% of all primary central nervous system (CNS) tumors. Although histological features of this rare tumor are generally benign, its outcome is often unfavorable due to high risk of recurrence and multifocal localization. HBLs can be detected as sporadic or associated with Von Hippel-Lindau disease. Diffuse neonatal hemangiomatosis (DNH) presents with multiple, progressive, rapidly growing cutaneous hemangiomas associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. DNH with predominant CNS involvement is rarely reported. Herein, we present a neonatal case of cerebellar HBL associated with DNH. CASE REPORT: A 5-day-old male baby was referred with complaints of multiple cutaneous lesions. Purple papules were noted on the trunk, extremities, and the head. Thoracic magnetic resonance imaging demonstrated multiple hyperintense lesions on the chest wall and apex of the right lung. On MRI, a 3×2-cm mass lesion in the right cerebellar hemisphere was detected. Total resection of the mass and ventriculoperitoneal shunting was performed. Histopathologic examination confirmed the diagnosis of HBL. Steroid therapy was administered for disseminated hemangiomatosis, and the lesions showed regression; the patient showed good clinical recovery. The parents refused further treatment, and he was out of our control when he was 9 months old. CONCLUSION: According to our knowledge, the presented newborn is the second case of cerebellar HBL associated with diffuse skin and visceral hemangiomas in the English medical literature. Clinicians must be vigilant about the predictive value of visceral and/or cutaneous hemangioma for an associated intracranial HBL.


Assuntos
Neoplasias do Sistema Nervoso Central/patologia , Neoplasias Cutâneas/patologia , Neoplasias do Sistema Nervoso Central/complicações , Hemangioblastoma/patologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Neoplasias Cutâneas/complicações
18.
Drug Chem Toxicol ; 35(2): 232-4, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21988109

RESUMO

Vincristine (VCR) is a fundamental component of various chemotherapy protocols. Several reports of accidental intramuscular (i.m.) administration or overdose of VCR have been published in the medical literature. We report on an uneventful clinical course of both i.m. and overdose of VCR in a 6-year-old girl with Wilms' tumor. To prevent the administration of overdosed drug by the i.m. route accidentally, chemotherapy should be administrated only by experienced medical doctors.


Assuntos
Antineoplásicos Fitogênicos/intoxicação , Neoplasias Renais/tratamento farmacológico , Vincristina/intoxicação , Tumor de Wilms/tratamento farmacológico , Criança , Overdose de Drogas , Feminino , Humanos
19.
Mycopathologia ; 174(5-6): 505-9, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22777270

RESUMO

Fungal infection is a severe problem in children suffering from cancer. We report a case of a four-year-old girl who was diagnosed with acute lymphoblastic leukemia and multiple Aspergillus niger abscesses at the induction phase of the treatment. She was treated with granulocyte transfusions, liposomal amphotericin B with a combination of voriconazole for four months, followed by oral variconazole alone for 17 months. She was successfully treated with this combination without any sequel, and the planned chemotherapy was also completed. Our experience revealed that antifungal treatment including intravenous amphotericin B and variconazole augmented by granulocyte transfusion is an alternative option for the management of this catastrophic complication.


Assuntos
Aspergilose/microbiologia , Aspergillus niger/isolamento & purificação , Abscesso Encefálico/microbiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Anfotericina B/uso terapêutico , Antifúngicos/uso terapêutico , Aspergilose/tratamento farmacológico , Aspergilose/etiologia , Abscesso Encefálico/tratamento farmacológico , Abscesso Encefálico/etiologia , Pré-Escolar , Feminino , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Pirimidinas/uso terapêutico , Triazóis/uso terapêutico , Voriconazol
20.
Data Brief ; 41: 107921, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35198693

RESUMO

This paper presents an electromyography (EMG) signal dataset for use in human-computer interaction studies. The dataset includes 4-channel surface EMG data from 40 participants with an equal gender distribution. The gestures in the data are rest or neutral state, extension of the wrist, flexion of the wrist, ulnar deviation of the wrist, radial deviation of the wrist, grip, abduction of all fingers, adduction of all fingers, supination, and pronation. Data were collected from 4 forearm muscles when simulating 10 unique hand gestures and recorded with the BIOPAC MP36 device using Ag/AgCl surface bipolar electrodes. Each participant's data contains five repetitive cycles of ten hand gestures. A demographic survey was applied to the participants before the signal recording process. This data can be utilized for recognition, classification, and prediction studies in order to develop EMG-based hand movement controller systems. The dataset can also be useful as a reference to create an artificial intelligence model (especially a deep learning model) to detect gesture-related EMG signals. Additionally, it is encouraged to use the proposed dataset for benchmarking current datasets in the literature or for validation of machine learning and deep learning models created with different datasets in accordance with the participant-independent validation strategy.

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