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1.
Pediatr Res ; 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39261659

RESUMEN

BACKGROUND: Pediatric Burkitt lymphoma (pBL) is the most common non-Hodgkin lymphoma in children. These patients require prompt diagnosis and initiation of therapy due to rapid tumor growth. The roles of tumor tissue and circulating microRNAs (miRNAs) in the diagnosis or prognostication have not been fully elucidated in pBLs. METHODS: Differentially expressed (DE) miRNAs were identified with microRNA sequencing (miRNA-Seq) in tumor tissues and plasma of diagnostic pBLs. The diagnostic potential of total miRNA concentrations and overexpressed miRNAs were evaluated through receiver operating characteristic (ROC) analyses. Log-rank test was employed to evaluate survival differences associated with DE miRNAs. Selected miRNA expressions were cross-validated with quantitative reverse transcription PCR (qRT-PCR). RESULTS: Total circulating cell-free miRNAs were higher in pBL cases compared to controls. Cancer-associated pathways were enriched among miRNAs differentially expressed in pBL tumor tissues. Several upregulated miRNAs in pBL tumors demonstrated high diagnostic potential. Similarly, ROC analysis of overexpressed plasma miRNAs revealed circulating cell-free or exosomal miRNAs that can distinguish pBLs from control cases. Indeed, integrative analysis of overexpressed circulating exosomal miRNAs showed an enhanced diagnostic potential for certain triple combinations. Kaplan-Meier analyses of DE miRNAs in tumor tissues identified miRNAs predicting overall survival. CONCLUSIONS: Differentially expressed miRNAs in tumor tissue and plasma of pBL have the potential to improve diagnosis and prognosis. IMPACT: Differentially expressed miRNAs in treatment-naive pediatric Burkitt lymphoma cases have diagnostic or prognostic biomarker potential. This is the first study that applied miRNA-Seq on treatment-naive pediatric Burkitt lymphoma cases for identification of differentially expressed miRNAs both in tumor tissue and plasma samples with diagnostic potential. Through systematic analysis of differentially expressed miRNAs, tumor tissue miRNAs associated with the overall survival of pBLs have been discovered. The clinically significant, differentially expressed miRNAs identified in pediatric Burkitt lymphoma cases can potentially improve the current tissue-based or non-invasive clinical practice in terms of diagnosis or prognostication.

2.
Childs Nerv Syst ; 40(1): 123-133, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37452862

RESUMEN

PURPOSE: The most important complication of paravertebral tumors is cord compression (CC), which is an oncologic emergency. Early and appropriate intervention is important in terms of reducing morbidity and mortality. Here, we report our clinical experience with paravertebral tumors. METHODS: The files of patients who were followed up for benign/malignant paravertebral tumors between 1988 and 2022 were evaluated retrospectively. RESULTS: There were 96 patients with paravertebral tumors. The median age at diagnosis was 5 years (1 month-17 years). The male/female ratio was 1.13. The median time to diagnosis was 4 weeks (0-28 weeks). The most common presenting complaint was pain (62.5%). The diagnosis distribution was as follows: sympathetic nervous system (SNS) tumors (n: 38), soft tissue sarcomas (STS) (n: 23), Langerhans cell histiocytosis (LCH) (n: 12), central nervous system (CNS) tumors (n: 9), germ cell tumor (n: 6), lymphomas (n: 4), and benign tumors (n: 4). Sixty-five patients (67.7%) had CC, 40% of whom received chemotherapy as first-line treatment. Decompression surgery was performed in 58.5% of the patients. For patients with CC, 26 patients had advanced disease at admission. Serious neurologic sequelae were observed in seventeen (17.7%) patients. CONCLUSION: Pain and neurological findings in childhood are warning signs for paravertebral tumors and CC. A detailed neurologic examination and radiodiagnostic imaging should be performed, and a definitive diagnosis should be made quickly. Anticancer treatment should be planned multidisciplinary. Decompression surgery should be discussed for patients with severe neurological deficits. Childhood cancers are chemosensitive; if possible, treatment should be initiated with chemotherapy to avoid neurological sequelae.


Asunto(s)
Histiocitosis de Células de Langerhans , Sarcoma , Compresión de la Médula Espinal , Niño , Humanos , Masculino , Femenino , Preescolar , Estudios Retrospectivos , Histiocitosis de Células de Langerhans/complicaciones , Compresión de la Médula Espinal/etiología , Dolor
3.
Jpn J Clin Oncol ; 53(12): 1170-1176, 2023 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-37647636

RESUMEN

BACKGROUND: Wilms tumor is the most common cancer of the kidney that occurs during childhood, and histologically, it mimics renal embryogenesis. With the development and improvement of up-to-date treatment protocols, the survival rates of Wilms tumor have increased. However, metastases or local relapses are still observed in 15% of patients. The search for reliable biomarkers to identify at-risk patients is ongoing to predict the variability in treatment success. Currently, the evaluation of clinical, histopathological and genetic features are common diagnostic methods; however, epigenetic features can be examined with microRNA expression analyses and might allow us to comment on the behavior of the tumor and treatment response. METHODS: In this study, we aimed to evaluate the relationship between microRNA-204 and microRNA-483-5p expression with clinicopathological data and the effect on Wilms tumor survival. For this purpose, the expression levels of RNU6B, microRNA-204 and microRNA-483-5p were evaluated in tumor and normal tissue by qreal time-polymerase chain reaction. We also investigated the relationship between microRNA expression levels with the clinicopathological and histological features of Wilms tumor. RESULTS AND CONCLUSION: The results of our study indicate that the relative expression levels of microRNA-204 in Wilms tumor tissues were significantly lower than that in adjacent normal tissues. By contrast, tumor tissue had a higher microRNA-483-5p expression than the corresponding normal tissues. A statistically significant difference between microRNA-204 expression level with age and the presence of anaplasia was observed. The upregulation of microRNA-483-5p was found to have a significant correlation with patients after preoperative chemotherapy and complete tumor necrosis. Taken together, our data suggest that microRNA-204 could play a critical role as a tumor suppressor, whereas microRNA-483-5p acts as an oncogene in Wilms tumor progression. More importantly, microRNA-204 might be a novel predictive biomarker for anaplastic histology and could be useful for developing therapeutic interventions targeting this marker.


Asunto(s)
Neoplasias Renales , MicroARNs , Tumor de Wilms , Humanos , Recurrencia Local de Neoplasia/patología , MicroARNs/genética , Tumor de Wilms/genética , Tumor de Wilms/metabolismo , Tumor de Wilms/patología , Regulación hacia Arriba , Neoplasias Renales/genética , Regulación Neoplásica de la Expresión Génica , Proliferación Celular/genética
4.
Pediatr Dev Pathol ; 26(3): 273-280, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36861642

RESUMEN

INTRODUCTION: Maternal regulatory T (Treg) cells play a pivotal role in establishing general immune homeostasis in the decidua for maintenance of pregnancy. We aimed in this study to investigate the relationship between mRNA expression of immunomodulatory genes and CD25+ Treg cells with early pregnancy losses. METHODS: Our study included 3 groups of early pregnancy losses including sporadic spontaneous abortions, recurrent spontaneous abortions, sporadic spontaneous abortions post IVF treatment and the control group. We performed RT-PCR for analyzing mRNA expression levels of 6 immunomodulatory genes and CD25 immunohistochemistry for quantification of Treg cells. RESULTS: Only FOXP3, CD274 (PDL1), and TGFß1 mRNA expression levels were significantly decreased in the miscarriage groups in comparison to the control group, whereas there was no significant mRNA expression change of CD4, IL2RA, and IL10. We also found significantly lower number of CD25+ cells in the miscarriages. CONCLUSION: We conclude that decreased expression of FOXP3 and PD-L1 may play a significant role in the pathogenesis of spontaneous abortion cases whereas decreased expression of TGFß1 gene may be associated with the occurrence of early loss in IVF-treated pregnancies. Additional immunoprofiling of Treg cell population is needed to quantify Treg cells in early pregnancy losses.


Asunto(s)
Aborto Espontáneo , Embarazo , Femenino , Humanos , Aborto Espontáneo/genética , Aborto Espontáneo/metabolismo , Linfocitos T Reguladores/metabolismo , Linfocitos T Reguladores/patología , Factores de Transcripción Forkhead/genética , ARN Mensajero/genética
5.
Cytopathology ; 34(2): 113-119, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36458464

RESUMEN

BACKGROUND: Intraoperative pathological diagnosis of central nervous system (CNS) tumours is essential to planning patient management in neuro-oncology. Frozen section slides and cytological preparations provide architectural and cellular information that is analysed by pathologists to reach an intraoperative diagnosis. Progress in the fields of artificial intelligence and machine learning means that AI systems have significant potential for the provision of highly accurate real-time diagnosis in cytopathology. OBJECTIVE: To investigate the efficiency of machine-learning models in the intraoperative cytological diagnosis of CNS tumours. MATERIALS AND METHODS: We trained a deep neural network to classify biopsy material for intraoperative tissue diagnosis of four major brain lesions. Overall, 205 medical images were obtained from squash smear slides of histologically correlated cases, with 18 high-grade and 11 low-grade gliomas, 17 metastatic carcinomas, and 9 non-neoplastic pathological brain tissue samples. The neural network model was trained and evaluated using 5-fold cross-validation. RESULTS: The model achieved 95% and 97% diagnostic accuracy in the patch-level classification and patient-level classification tasks, respectively. CONCLUSIONS: We conclude that deep learning-based classification of cytological preparations may be a promising complementary method for the rapid and accurate intraoperative diagnosis of CNS tumours.


Asunto(s)
Neoplasias Encefálicas , Aprendizaje Profundo , Humanos , Inteligencia Artificial , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patología , Redes Neurales de la Computación , Biopsia/métodos
6.
Pediatr Dev Pathol ; 25(2): 82-90, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34554028

RESUMEN

INTRODUCTION: Medulloblastoma is the most common pediatric central nervous tumor of high malignancy that has been classified into both histological subtypes and molecular subgroups by the 2016 World Health Organization classification. However, there is a still need to understand the genomic characteristics and predict the clinical course. The aim of the study is to investigate the significance of the methylation profiles in molecular subclassification and precision medicine of the disease. METHODS: The study enrolled 47 pediatric medulloblastoma patients. DNA methylation levels of KLF4, SPINT2, RASSF1A, EZH2, ZIC2, and PTCH1 genes were analyzed using methylation-specific pyrosequencing. The significance of the statistical relationship between methylation profiles and clinicopathological parameters including molecular subgroups and histological subtypes, the status of metastasis, and event-free survival were analyzed. RESULTS: DNA methylation analysis demonstrated that KLF4, PTCH1, and ZIC2 hypermethylation were associated with the SHH-activated subgroup, whereas both SPINT2 and RASSF1A hypermethylation were associated with metastatic disease. EZH2 gene was not methylated in any of the samples. CONCLUSION: We think that customized DNA methylation profiling may be a useful tool in the molecular subclassification of pediatric medulloblastoma and a potential technical approach in precision medicine.


Asunto(s)
Neoplasias Cerebelosas , Metilación de ADN , Meduloblastoma , Neoplasias Cerebelosas/genética , Neoplasias Cerebelosas/patología , Niño , Genómica , Humanos , Meduloblastoma/diagnóstico , Meduloblastoma/genética
7.
Fetal Pediatr Pathol ; 41(1): 49-57, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32401663

RESUMEN

Background: Reed-Sternberg cells can escape from the immune system by enhancement of the expression of PD-L1 and PD-L2. Objectives: The aim of the present study was to investigate the significance PD-L1 and PD-L2 gene mutations in childhood Hodgkin Lymphoma's (HL). Methods: The study included 39 pediatric classical HL cases. PD-L1 and PD-L2 mutations were determined by Sanger sequencing. Clinicopathological parameters were obtained from patients' records. Results: Eight cases (20.5%) showed p.R260C mutations, and three (7.7%) p.R234L in the exome 5 of PD-L1 gene. None of the cases had PD-L2 mutations. p.R260C mutation exhibited a significant relationship with older age and nodular sclerosing (NS) histology and was associated with longer event free survival. Conclusions: Although PD-L1 mutational status did not show statistically significance with well-established prognostic factors, our preliminary data indicate that p.R260C mutation of PD-L1 gene may be associated with longer event free survival in older patients and NS histology in pediatric HL.


Asunto(s)
Antígeno B7-H1 , Enfermedad de Hodgkin , Proteína 2 Ligando de Muerte Celular Programada 1/genética , Anciano , Antígeno B7-H1/genética , Niño , Enfermedad de Hodgkin/genética , Humanos , Mutación , Pronóstico
8.
Blood ; 134(18): 1510-1516, 2019 10 31.
Artículo en Inglés | MEDLINE | ID: mdl-31501153

RESUMEN

Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, and malignancy. We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necrosis factor receptor superfamily member CD137/4-1BB, leading to reduced, or loss of, protein expression. Lymphocytic responses crucial for immune surveillance, including activation, proliferation, and differentiation, were impaired. Genetic reconstitution of CD137 reversed these defects. CD137 deficiency is a novel inborn error of human immunity characterized by lymphocytic defects with early-onset Epstein-Barr virus (EBV)-associated lymphoma. Our findings elucidate a functional role and relevance of CD137 in human immune homeostasis and antitumor responses.


Asunto(s)
Enfermedades Autoinmunes/genética , Síndromes de Inmunodeficiencia/genética , Linfoma/genética , Miembro 9 de la Superfamilia de Receptores de Factores de Necrosis Tumoral/genética , Enfermedades Autoinmunes/inmunología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Síndromes de Inmunodeficiencia/inmunología , Linfoma/inmunología , Masculino , Linaje , Miembro 9 de la Superfamilia de Receptores de Factores de Necrosis Tumoral/deficiencia
9.
J Pediatr Hematol Oncol ; 43(7): e903-e906, 2021 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-33273411

RESUMEN

Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor of the heart. In the literature, cardiac IMT is often described as an endocardial-based cavitary mass originating from the right side of the heart in infants and adolescents. In this article, we present a 5-year-old boy with a rare cardiac IMT who had no complaints and was diagnosed with murmur during his routine examination. Transthoracic echocardiography showed a homogeneous polypoid mass originating from the pulmonary valve, extending into the main pulmonary artery during systole and causing obstruction of the pulmonary artery and right ventricular outflow tract. Surgical resection of the tumor was performed successfully. There was no tumor recurrence in the control echocardiography at the postoperative first month.


Asunto(s)
Neoplasias Cardíacas/complicaciones , Inflamación/complicaciones , Miofibroblastos/patología , Arteria Pulmonar/patología , Enfermedad Pulmonar Obstructiva Crónica/patología , Preescolar , Femenino , Neoplasias Cardíacas/patología , Humanos , Inflamación/patología , Pronóstico , Enfermedad Pulmonar Obstructiva Crónica/etiología
10.
Pediatr Emerg Care ; 37(12): e1075-e1081, 2021 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-31503129

RESUMEN

OBJECTIVE: The objective of this study was to evaluate physical examinations, imaging, and laboratory analyses individually and combined using innovative statistical analysis methods for the accurate diagnosis of pediatric appendicitis. METHODS: Patients admitted to hospital with symptoms of abdominal pain whose pediatric appendicitis scores greater than 3 were included in the study. Clinical, radiologic, and laboratory findings and as a new biomarker calprotectin (CPT) concentrations were evaluated individually and combined using artificial neural networks (ANNs), which revealed latent relationships for a definitive diagnosis. RESULTS: Three hundred twenty patients were evaluated (190 appendicitis [43 perforated] vs 130 no appendicitis). The mean ± SD age was 11.3 ± 3.6 years and 63% were male. Pediatric appendicitis scores, white blood cell (WBC) count, absolute neutrophil count (ANC), C-reactive protein (CRP) level, procalcitonin (PCT) and CPT concentrations were higher in the appendicitis group; however, only WBC and ANC were higher in first 24 hours of pain. White blood cells and CRP were diagnostic markers in patients whose appendix could not be visualized using ultrasonography (US). On classic receiver operating characteristic (ROC) analysis, the areas under the curve (AUCs) were not strong enough for differential diagnosis (WBC, 0.73; ANC, 0.72; CRP, 0.65; PCT and CPT, 0.61). However, when the physical examination, US, and laboratory findings were analyzed in a multivariate model and the ROC analysis obtained from the variables with ANN, an ROC curve could be obtained with 0.91 AUC, 89.8% sensitivity, and 81.2% specificity. C-reactive protein and PCT were diagnostic for perforated appendicitis with 0.83 and 0.75 AUC on ROC. CONCLUSIONS: Although none of the biomarkers were sufficient for an accurate diagnosis of appendicitis individually, a combination of physical examination and laboratory and US was a good diagnostic tool for pediatric appendicitis.


Asunto(s)
Apendicitis , Adolescente , Apendicitis/diagnóstico por imagen , Biomarcadores , Proteína C-Reactiva/análisis , Niño , Humanos , Recuento de Leucocitos , Masculino , Redes Neurales de la Computación , Examen Físico , Estudios Prospectivos , Curva ROC , Sensibilidad y Especificidad , Ultrasonografía
11.
Neuroophthalmology ; 45(3): 205-210, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34194127

RESUMEN

A previously well 34-year-old man presented with severe pseudotumour cerebri. Imaging showed that he had a cauda equina tumour which proved to be a medulloblastoma. There was no tumour mass in the posterior fossa so we assume that this was a primary leptomeningeal medulloblastoma. In patients with somewhat atypical pseudotumour, spinal imaging should always be considered.

12.
Eur Radiol ; 30(10): 5227-5236, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32382846

RESUMEN

OBJECTIVES: To evaluate the diagnostic performance of MRI texture analysis (TA) for differentiation of pediatric craniofacial rhabdomyosarcoma (RMS) from infantile hemangioma (IH). METHODS: This study included 15 patients with RMS and 42 patients with IH who underwent MRI before an invasive procedure. All patients had a solitary lesion. T2-weighted and fat-suppressed contrast-enhanced T1-weighted axial images were used for TA. Two readers delineated the tumor borders for TA independently and evaluated the qualitative MRI characteristics in consensus. The differences of the texture features' values between the groups were assessed and ROC curves were calculated. Logistic regression analysis was used to analyze the value of TA with and without the combination of the qualitative MRI characteristics. A p value < 0.05 was considered statistically significant. RESULTS: Thirty-eight texture features were calculated for each tumor. Eighteen features on T2-weighted images and 25 features on contrast-enhanced T1-weighted images were significantly different between the RMSs and IHs. On contrast-enhanced T1-weighted images, the short-zone emphasis (SZE), which was a gray-level zone length matrix (GLZLM) parameter, had the largest area under the curve: 0.899 (sensitivity 93%, specificity 87%). The independent predictor for the RMS among the qualitative MRI characteristics was heterogeneous contrast enhancement (p < 0.001). Using only a GLZLM_SZE value of lower than 0.72 was found to be the best diagnostic parameter in predicting RMS (p < 0.001; 95% CI, 8.770-992.4). CONCLUSION: MRI-based TA may contribute to differentiate RMS from IH without invasive procedures. KEY POINTS: • Texture analysis may help to distinguish between rhabdomyosarcoma and infantile hemangioma without invasive procedures. • The gray-level zone length matrix parameters, especially the short-zone emphasis, may be a potential predictor for rhabdomyosarcoma. • Using contrast-enhanced T1-weighted images may be superior to T2-weighted images to differentiate rhabdomyosarcoma from infantile hemangioma in texture analysis.


Asunto(s)
Neoplasias Faciales/diagnóstico , Hemangioma/diagnóstico , Imagen por Resonancia Magnética/métodos , Rabdomiosarcoma/diagnóstico , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Aumento de la Imagen/métodos , Lactante , Masculino , Curva ROC
13.
Pediatr Emerg Care ; 36(8): e470-e472, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30113436

RESUMEN

Pulmonary alveolar proteinosis (PAP) is a respiratory pathology characterized by the accumulation and increase of surfactant-derived material in the lungs. In clinical practice, PAP may present as the primary form, which includes autoimmune and hereditary PAP, or as the secondary form. Diffuse alveolar radiopacities on chest x-ray and the crazy-paving pattern on high-resolution computed tomography are important, although not specific findings for PAP. Bronchoalveolar lavage biopsy is a diagnostic method, and whole-lung lavage remains the criterion standard for the treatment of PAP. Evidence is required regarding treatment with exogenous anti-granulocyte/macrophage colony-stimulating factor.Here, we present a 13-year-old male patient with hereditary PAP and a 15-year-old female patient with autoimmune PAP who presented with complaints of easy fatigability and weakness to emphasize the importance of keeping in mind PAP as a differential diagnosis in patients with respiratory failure findings.


Asunto(s)
Factor Estimulante de Colonias de Granulocitos y Macrófagos/uso terapéutico , Proteinosis Alveolar Pulmonar/diagnóstico , Proteinosis Alveolar Pulmonar/tratamiento farmacológico , Adolescente , Biopsia , Lavado Broncoalveolar , Diagnóstico Diferencial , Diagnóstico por Imagen , Femenino , Humanos , Masculino , Proteinosis Alveolar Pulmonar/genética , Proteinosis Alveolar Pulmonar/inmunología , Respiración Artificial
14.
Pediatr Dev Pathol ; 22(5): 449-455, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31072207

RESUMEN

Langerhans cell histiocytosis (LCH) is a rare disease presenting with usually a localized disease but sometimes a widespread aggressive disorder especially in children. Among the somatic mutations in RAF-MEK-ERK pathway, especially BRAF mutation has been detected so far in LCH. We aimed in this study to investigate the prognostic significance of the mutations of target genes playing a role in the RAF-MEK-ERK pathway in pediatric LCH. Mutation analyses were performed on tumor DNA extracted from formalin-fixed paraffin-embedded biopsy specimens of 38 pediatric LCH cases using a direct sequencing technique for BRAF, ARAF, MAP2K1, and MAP3K1 genes. The mutational status was correlated statistically with survival, clinical progression (disease relapse), and the established clinical prognostic parameters of LCH such as age, gender, localization, multisystem disease, central nervous system risk lesions, and risk organ or special-site involvement. BRAF V600E mutation was detected in 14 cases (36.8%), whereas ARAF mutation was found in only 1 case. No mutations were identified for MAP2K1 and MAP3K1 genes. The association of BRAF V600E mutation was significant in children with multisystem disease, younger age (<2 years), skin, and special organ involvement. BRAF V600E mutation was an independent predictive parameter for disease relapse. We therefore conclude that BRAF V600E mutation may be a significant marker for predicting disease progression in LCH and a candidate for targeted therapy for children with disease relapse and multisystem disease.


Asunto(s)
Histiocitosis de Células de Langerhans/genética , Histiocitosis de Células de Langerhans/patología , Proteínas Proto-Oncogénicas B-raf/genética , Adolescente , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Recurrencia
15.
Pol J Radiol ; 84: e46-e53, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31019594

RESUMEN

PURPOSE: To compare the effectiveness of computed tomography (CT) and magnetic resonance imaging (MRI) in the staging of neuroblastomas according to the International Neuroblastoma Risk Group Staging System (INRGSS). MATERIAL AND METHODS: In this single-centre retrospective study we identified a total of 20 patients under the age of 18 years, who were admitted to our hospital with neuroblastoma between January 2005 and May 2018, and who had both CT and MRI examination. The INRGSS stages of tumours were evaluated by CT scan and MRI. Then, stages of tumours were described according to the INRGSS for CT and MRI, separately. The Spearman rank correlation test was used for statistical analysis. The p-value < 0.05 was considered as statistically significant. RESULTS: The median age was 11 months, and the age range was one month to nine years. In our results; both MRI and CT were significant in the determination of radiological staging of NBL, p < 0.001 and p = 0.002, respectively. MRI was superior to CT in radiological staging. MRI was also superior for the detection of intraspinal extension, involvement of multiple body compartments, metastatic disease, and bone marrow infiltration. CT was more useful to consider the relationship between tumours and vascular structures. CONCLUSIONS: MRI and CT have high diagnostic accuracy rates in the staging of pre-treatment neuroblastomas. MRI is important in pre-treatment evaluation of neuroblastomas because of the higher detection of metastases as well as the lack of ionising radiation.

16.
Cytogenet Genome Res ; 153(4): 175-180, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29518772

RESUMEN

Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.


Asunto(s)
Anomalías Múltiples/genética , Agenesia del Cuerpo Calloso/genética , Trastornos de los Cromosomas/genética , Cardiopatías Congénitas/genética , Microcefalia/genética , Astigmatismo/genética , Trastornos de los Cromosomas/patología , Cromosomas Humanos Par 13/genética , Cromosomas Humanos Par 13/ultraestructura , Hibridación Genómica Comparativa , Resultado Fatal , Femenino , Retardo del Crecimiento Fetal/genética , Pérdida Auditiva Bilateral/genética , Pérdida Auditiva Sensorineural/genética , Humanos , Lactante , Recién Nacido , Trastornos del Desarrollo del Lenguaje/genética , Fenotipo , Polihidramnios/etiología , Embarazo , Cromosomas en Anillo , Análisis de Matrices Tisulares
17.
Pediatr Blood Cancer ; 64(12)2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28598542

RESUMEN

BACKGROUND: Overexpression of minichromosome maintenance (MCM) proteins 2, 3, and 7 is associated with migration and invasion in medulloblastoma (MB). However, expression profiling of all prereplication complex (pre-RC) has not been addressed in MBs. PROCEDURE: We performed mRNA expression profiling of a large set of pre-RC elements in cell lines and tumor tissues of MB. RNAi technology was employed for functional studies in MB cell lines. RESULTS: Our data showed that most of the pre-RC components are significantly overexpressed in MB. Among all pre-RC mRNAs, MCM10 showed the highest level of expression (∼500- to 1,000-fold) in MB cell lines and tissues compared to the levels detected in cerebellum. In addition, RNAi silencing of MCM10 caused reduced cell proliferation and cell viability in MB cells. CONCLUSIONS: Taken together, our study reveals that the pre-RC is dysregulated in MB. In addition, MCM10, a member of this complex, is significantly overexpressed in MB and is required for tumor cell proliferation.


Asunto(s)
Neoplasias Cerebelosas/química , Meduloblastoma/química , Proteínas de Mantenimiento de Minicromosoma/fisiología , Apoptosis , Línea Celular Tumoral , Proliferación Celular , Neoplasias Cerebelosas/patología , Humanos , Inmunohistoquímica , Meduloblastoma/patología , Proteínas de Mantenimiento de Minicromosoma/análisis
18.
Fetal Pediatr Pathol ; 36(5): 364-372, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28949777

RESUMEN

INTRODUCTION: To assess the pendrin expression density in placental bed biopsies from preeclampsia cases in comparison with healthy term controls. MATERIAL AND METHODS: A prospective case-control study with 106 placental bed biopsies obtained during cesarean deliveries. Pendrin expression was evaluated by immunohistochemical staining in different hypertensive disorders of pregnancy. RESULTS: Pendrin immunostaining frequency was higher in the hypertensive disorders group (p: 0.024), which was a result of the high frequency in the early-onset preeclampsia group. Uterine artery pulsatility indices were higher in pendrin positive patients than in the negatives in the case group. Gravidity was not found to affect the pendrin expression frequency in the placental bed. CONCLUSION: Placental ischemia seems to be an important determinant of pendrin expression in pregnant decidua. Increased pendrin density in early-onset preeclampsia could be a pathogenetic mechanism in or a part of the adaptational response to the development of the hypertension.


Asunto(s)
Proteínas de Transporte de Membrana/biosíntesis , Placenta/metabolismo , Preeclampsia/metabolismo , Adulto , Biopsia , Estudios de Casos y Controles , Femenino , Humanos , Inmunohistoquímica , Proteínas de Transporte de Membrana/análisis , Embarazo , Estudios Prospectivos , Coloración y Etiquetado , Transportadores de Sulfato
19.
Dig Dis Sci ; 61(3): 900-4, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26547756

RESUMEN

BACKGROUND AND AIMS: Interstitial cells of Cajal (ICC) have been shown to be present in the extrahepatic biliary tract of animals and humans. However, ICC distribution in choledochal cysts (CC) has not been investigated. A study was conducted to investigate the distribution of ICC in the extrahepatic biliary tract, including CC, in pediatric human specimens. METHOD: The specimens were divided into two main groups as gallbladders and common bile ducts. Gallbladders were obtained from the cholelithiasis, CC operations and autopsies. Common bile ducts were obtained from autopsies. Tissues were stained using c-kit immunohistochemical staining. ICC were assessed semi-quantitatively by applying morphological criteria and were counted as the number of cells/0.24 mm(2) in each area under light microscopy. RESULTS: A total of 35 gallbladders and 14 CC were obtained from operations. Ten gallbladders plus common bile ducts were obtained from autopsies. The mean numbers of ICC in the gallbladders of cholelithiasis and the gallbladders of CC were 12.2 ± 4.9 and 5.3 ± 1.2, respectively (p = 0.003). The mean numbers of ICC in the common bile ducts and CC were 9.8 ± 2.9 and 3.4 ± 1.4, respectively (p = 0.001). CONCLUSION: The scarcity of ICC in the extrahepatic biliary tract may be responsible for the etiopathogenesis of the CC.


Asunto(s)
Quiste del Colédoco/patología , Conducto Colédoco/citología , Vesícula Biliar/citología , Células Intersticiales de Cajal/citología , Adolescente , Estudios de Casos y Controles , Recuento de Células , Niño , Preescolar , Colecistectomía , Quiste del Colédoco/metabolismo , Quiste del Colédoco/cirugía , Colelitiasis/cirugía , Conducto Colédoco/metabolismo , Femenino , Vesícula Biliar/metabolismo , Humanos , Inmunohistoquímica , Lactante , Células Intersticiales de Cajal/metabolismo , Masculino , Proteínas Proto-Oncogénicas c-kit/metabolismo
20.
Prenat Diagn ; 35(11): 1128-36, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26223365

RESUMEN

INTRODUCTION: By looking through our ethical committee cases, we demonstrate the main arguments we use for making a judgment in face of fetal abnormalities. Our decision making model is a simplified algorithm of the arguments and concepts we use in scientific-ethic discussion. MATERIALS AND METHODS: A retrospective analysis was conducted from single, tertiary referral center of patients evaluated for fetal abnormalities from 2004 to 2014. We hypothesized that all our judgments would fit into a decision-tree model. RESULTS: 553 fetal abnormality cases were discussed, 348 (63%) were given termination of pregnancy (TOP) proposal. When detected <24 weeks, fetuses with chromosomal abnormality/genetic disorders (n:100) and with mental retardation risk (n:93) ended up with TOP proposal. For incompatibility with life cases (n:111) and the multimorbidity cases (n:44) the committee suggest TOP, regardless of gestational age. The highest family approval ratios were in chromosomal abnormalities/genetic disorders group (93%), and the lowest figures were in mental retardation risk group (80%). DISCUSSION: Continuously changing literature on prenatal and postnatal therapy options and the long term outcome of various fetal abnormalities influence committee decisions. Theoretical high success rates and inconsistent data on long term prognosis of some anomaly groups resulted in heterogenous decisions and various approval ratios.


Asunto(s)
Anomalías Múltiples , Aborto Inducido , Algoritmos , Anomalías Congénitas , Árboles de Decisión , Adolescente , Adulto , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Toma de Decisiones , Femenino , Enfermedades Genéticas Congénitas , Humanos , Discapacidad Intelectual , Persona de Mediana Edad , Padres , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Adulto Joven
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