RESUMEN
The aim of the current study was to compare some biological activities of edible oils enriched with 10 % of cannabidiol (CBD samples) from the Slovak market. In addition, hemp, coconut, argan, and pumpkin pure oils were also examined. The study evaluated the fatty acids content, as well as antibacterial, antifungal, antioxidant, cytotoxic, and phytotoxic activities. The CBD samples presented antimicrobial activity against the tested bacterial strains at higher concentrations (10000 and 5000â mg/L) and antifungal activity against Alternaria alternata, Penicillium italicum and Aspergillus flavus. DPPHâ and FRAP assays showed greater activity in CBD-supplemented samples compared to pure oils and vitamin E. In cell lines (IPEC-J2 and Caco-2), a reduced cell proliferation and viability were observed after 24â hours of incubation with CBD samples. The oils showed pro-germinative effects. The tested activities were linked to the presence of CBD in the oils.
Asunto(s)
Antioxidantes , Cannabidiol , Proliferación Celular , Cannabidiol/farmacología , Cannabidiol/química , Humanos , Proliferación Celular/efectos de los fármacos , Antioxidantes/farmacología , Antioxidantes/química , Pruebas de Sensibilidad Microbiana , Células CACO-2 , Supervivencia Celular/efectos de los fármacos , Antibacterianos/farmacología , Antibacterianos/química , Aceites de Plantas/farmacología , Aceites de Plantas/química , Antifúngicos/farmacología , Antifúngicos/química , Penicillium/efectos de los fármacos , Alternaria/efectos de los fármacos , Aspergillus flavus/efectos de los fármacosRESUMEN
Surface brachytherapy (BT) lacks standard quality assurance (QA) protocols. Commercially available treatment planning systems (TPSs) are based on a dose calculation formalism that assumes the patient is made of water, resulting in potential deviations between planned and delivered doses. Here, a method for treatment plan verification for skin surface BT is reported. Chips of thermoluminescent dosimeters (TLDs) were used for dose point measurements. High-dose-rate treatments were simulated and delivered through a custom-flap applicator provided with four fixed catheters to guide the Iridium-192 (Ir-192) source by way of a remote afterloading system. A flat water-equivalent phantom was used to simulate patient skin. Elekta TPS Oncentra Brachy was used for planning. TLDs were calibrated to Ir-192 through an indirect method of linear interpolation between calibration factors (CFs) measured for 250 kV X-rays, Cesium-137, and Cobalt-60. Subsequently, plans were designed and delivered to test the reproducibility of the irradiation set-up and to make comparisons between planned and delivered dose. The obtained CF for Ir-192 was (4.96 ± 0.25) µC/Gy. Deviations between measured and TPS calculated doses for multi-catheter treatment configuration ranged from -8.4% to 13.3% with an average of 0.6%. TLDs could be included in clinical practice for QA in skin BT with a customized flap applicator.
Asunto(s)
Braquiterapia , Humanos , Braquiterapia/métodos , Reproducibilidad de los Resultados , Radioisótopos de Iridio/uso terapéutico , Dosificación Radioterapéutica , Dosimetría Termoluminiscente , Agua , RadiometríaRESUMEN
This study was carried out to characterize the chemical composition of the essential oils from seven Eucalyptus species (E. griffithsii, E. hemiphloia, E. lesouefii, E. longicornis, E. pyriformis, E. viminalis, and E. wandoo), as well as their phytotoxic and antibacterial activities. The essential oils were analyzed by GC/MS and the potential in vitro phytotoxicity was evaluated against germination and radical elongation of Raphanus sativus, Lolium multiflorum, and Sinapis arvensis seeds. The antibiofilm activity was studied against both Gram-negative (Pseudomonas aeruginosa, Escherichia coli and Acinetobacter baumannii) and Gram-positive (Staphylococcus aureus and Listeria monocytogenes) bacteria. The inhibition of biofilm formation and its metabolism was determined at different times. Eucalyptol was the most abundant component in all essential oils studied (ranging from 40.8% for E. lesouefii EO to 73.6% for E. wandoo) except for that of E. pyriformis where it was present but at 15.1%. E. pyriformis was the most active against both germination and radical elongation of S. arvensis. The action of all essential oils proved to be highly effective in inhibiting the bacterial adhesion process of the five strains considered. In light of these results, these essential oils could have potential applications both in the agricultural and health fields.
Asunto(s)
Eucalyptus , Aceites Volátiles , Eucalyptus/química , Aceites Volátiles/farmacología , Aceites Volátiles/química , Eucaliptol/farmacología , Bacterias , Antibacterianos/farmacología , Antibacterianos/química , Túnez , Pruebas de Sensibilidad MicrobianaRESUMEN
Neuroblastoma (NB) is the most common extracranial neoplasm in children. The overall outcome for high-risk NB patients is still unacceptable, therefore, it is critical to deeply understand molecular mechanisms associated with NB, which in turn can be utilized for developing drugs towards the treatment of NB. Protein kinases (TKs) play an essential role in the regulation of cell survival and proliferation. Different kinases, such as anaplastic lymphoma kinase (ALK), Aurora kinase, RET receptor tyrosine kinase, are potential therapeutic targets in various cancers, including NB. We analysed a cohort of 45 high-risk NB patients and 9 NB cell lines by a targeted-(t)NGS custom gene panel (genes codifying for the kinase domains of 90 TKs). We identified somatic variants in four TK genes (ALK, EPHB4, LMTK3 and EPHB6) in NB patients and we functionally characterized an interesting somatic variant, V871I, in EPHB4 gene. EPHB4 plays a crucial role in cardiovascular development and regulates vascularization in cancer-promoting angiogenesis, tumour growth and metastasis. Several EPHB4 mutations have previously been identified in solid and haematological tumour specimens but EPHB4 mutations were not described until now in NB. Interestingly, a re-analysis of public CGH-array showed that the EPHB4 gain is associated with advanced diseases in NB. We further demonstrated that higher EPHB4 expression is correlated to stage 4 of NB and with poor overall survival. Additionally, we also revealed that the EPHB4-V871I accounts for increased proliferation, migration and invasion properties in two NB cell lines by acting on VEGF, c-RAF and CDK4 target genes and by increasing the phosphorylation of ERK1-2 pathway. The use of two EPHB4 inhibitors, JI-101 and NVP-BHG712, was able to rescue the phenotype driven by the variant. Our study suggested that EPHB4 is a promising therapeutic target in high-risk NB.
Asunto(s)
Mutación/genética , Neuroblastoma/genética , Receptor EphB4/genética , Línea Celular Tumoral , Movimiento Celular/genética , Proliferación Celular/genética , Humanos , Metástasis de la Neoplasia/genética , Metástasis de la Neoplasia/patología , Neovascularización Patológica/genética , Neovascularización Patológica/patología , Neuroblastoma/patología , Proteínas Quinasas/genética , Transducción de Señal/genéticaRESUMEN
Dehydrated hereditary stomatocytosis (DHS), or xerocytosis, is an autosomal dominant hemolytic anemia. Most patients with DHS carry mutations in the PIEZO1 gene encoding a mechanosensitive cation channel. We here demonstrate that patients with DHS have low levels of hepcidin and only a slight increase of ERFE, the erythroid negative regulator of hepcidin. We demonstrated that at the physiological level, PIEZO1 activation induced Ca2+ influx and suppression of HAMP expression in primary hepatocytes. In two hepatic cellular models expressing PIEZO1 WT and two PIEZO1 gain-of-function mutants (R2456H and R2488Q), we highlight altered expression of a few genes/proteins involved in iron metabolism. Mutant cells showed increased intracellular Ca2+ compared to WT, which was correlated to increased phosphorylation of ERK1/2, inhibition of the BMP-SMADs pathway, and suppression of HAMP transcription. Moreover, the HuH7 cells, treated with PD0325901, a potent inhibitor of ERK1/2 phosphorylation, reduced the phosphorylation of ERK1/2 with the consequent increased phosphorylation of SMAD1/5/8, confirming the link between the two pathways. Another "proof of concept" for the mechanism that links PIEZO1 to HAMP regulation was obtained by mimicking PIEZO1 activation by cell Ca2+ overload, by the Ca2+ ionophore A23187. There was strong down-regulation of HAMP gene expression after this Ca2+ overload. Finally, the inhibition of PIEZO1 by GsMTx4 leads to phenotype rescue. This is the first demonstration of a direct link between PIEZO1 and iron metabolism, which defines the channel as a new hepatic iron metabolism regulator and as a possible therapeutic target of iron overload in DHS and other iron-loading anemias.
Asunto(s)
Anemia Hemolítica Congénita , Proteínas Morfogenéticas Óseas/metabolismo , Mutación con Ganancia de Función , Hepcidinas/biosíntesis , Hidropesía Fetal , Canales Iónicos , Hierro/metabolismo , Hígado/metabolismo , Sistema de Señalización de MAP Quinasas , Proteínas Smad/metabolismo , Sustitución de Aminoácidos , Anemia Hemolítica Congénita/genética , Anemia Hemolítica Congénita/metabolismo , Anemia Hemolítica Congénita/patología , Benzamidas/farmacología , Proteínas Morfogenéticas Óseas/genética , Difenilamina/análogos & derivados , Difenilamina/farmacología , Regulación de la Expresión Génica , Células Hep G2 , Hepcidinas/genética , Humanos , Hidropesía Fetal/genética , Hidropesía Fetal/metabolismo , Hidropesía Fetal/patología , Canales Iónicos/genética , Canales Iónicos/metabolismo , Hígado/patología , Proteína Quinasa 1 Activada por Mitógenos/genética , Proteína Quinasa 1 Activada por Mitógenos/metabolismo , Proteína Quinasa 3 Activada por Mitógenos/genética , Proteína Quinasa 3 Activada por Mitógenos/metabolismo , Proteínas Smad/genéticaRESUMEN
Congenital dyserythropoietic anemia type II (CDA II) is a hypo-productive anemia defined by ineffective erythropoiesis through maturation arrest of erythroid precursors. CDA II is an autosomal recessive disorder due to loss-of-function mutations in SEC23B. Currently, management of patients with CDA II is based on transfusions, splenectomy, or hematopoietic stem-cell transplantation. Several studies have highlighted benefits of ACE-011 (sotatercept) treatment of ineffective erythropoiesis, which acts as a ligand trap against growth differentiation factor (GDF)11. Herein, we show that GDF11 levels are increased in CDA II, which suggests sotatercept as a targeted therapy for treatment of these patients. Treatment of stable clones of SEC23B-silenced erythroleukemia K562 cells with the iron-containing porphyrin hemin plus GDF11 increased expression of pSMAD2 and reduced nuclear localization of the transcription factor GATA1, with subsequent reduced gene expression of erythroid differentiation markers. We demonstrate that treatment of these SEC23B-silenced K562 cells with RAP-011, a "murinized" ortholog of sotatercept, rescues the disease phenotype by restoring gene expression of erythroid markers through inhibition of the phosphorylated SMAD2 pathway. Our data also demonstrate the effect of RAP-011 treatment in reducing the expression of erythroferrone in vitro, thus suggesting a possible beneficial role of the use of sotatercept in the management of iron overload in patients with CDA II.
Asunto(s)
Anemia Diseritropoyética Congénita/tratamiento farmacológico , Proteínas Morfogenéticas Óseas/genética , Factor de Transcripción GATA1/genética , Factores de Diferenciación de Crecimiento/genética , Proteínas Recombinantes de Fusión/farmacología , Proteínas de Transporte Vesicular/genética , Anemia Diseritropoyética Congénita/genética , Anemia Diseritropoyética Congénita/patología , Células Precursoras Eritroides/metabolismo , Eritropoyesis/genética , Femenino , Humanos , Células K562 , Mutación/genética , Fenotipo , Proteínas Recombinantes de Fusión/genética , Proteína Smad2/genética , Proteína smad3/genéticaRESUMEN
The erythroferrone (ERFE) is the erythroid regulator of hepatic iron metabolism by suppressing the expression of hepcidin. Congenital dyserythropoietic anemia type II (CDAII) is an inherited hyporegenerative anemia due to biallelic mutations in the SEC23B gene. Patients with CDAII exhibit marked clinical variability, even among individuals sharing the same pathogenic variants. The ERFE expression in CDAII is increased and related to abnormal erythropoiesis. We identified a recurrent low-frequency variant, A260S, in the ERFE gene in 12.5% of CDAII patients with a severe phenotype. We demonstrated that the ERFE-A260S variant leads to increased levels of ERFE, with subsequently marked impairment of iron regulation pathways at the hepatic level. Functional characterization of ERFE-A260S in the hepatic cell system demonstrated its modifier role in iron overload by impairing the BMP/SMAD pathway. We herein described for the first time an ERFE polymorphism as a genetic modifier variant. This was with a mild effect on disease expression, under a multifactorial-like model, in a condition of iron-loading anemia due to ineffective erythropoiesis.
Asunto(s)
Anemia Diseritropoyética Congénita/genética , Proteínas Morfogenéticas Óseas/fisiología , Sobrecarga de Hierro/etiología , Hígado/metabolismo , Hormonas Peptídicas/genética , Transducción de Señal/genética , Proteínas Smad/fisiología , Adolescente , Adulto , Anemia Diseritropoyética Congénita/complicaciones , Anemia Diseritropoyética Congénita/metabolismo , Transfusión Sanguínea , Proteína Morfogenética Ósea 6/farmacología , Línea Celular , Niño , Eritropoyesis/genética , Femenino , Estudios de Asociación Genética , Hepcidinas/biosíntesis , Hepcidinas/sangre , Hepcidinas/genética , Humanos , Masculino , Hormonas Peptídicas/sangre , Hormonas Peptídicas/farmacología , Hormonas Peptídicas/fisiología , Proteínas Recombinantes/farmacología , Índice de Severidad de la Enfermedad , Proteínas Smad/biosíntesis , Proteínas Smad/genética , Adulto JovenRESUMEN
Hereditary stomatocytoses (HSts) are a wide spectrum of hemolytic anemias in which the erythrocyte membrane cation permeability is increased. Dehydrated hereditary stomatocytosis is the most frequent among HSts. It is caused by missense mutations in PIEZO1 and KCNN4 genes. We described 123 patients enrolled in our Genetic Unit from 2013 to 2017. Overall HSt subjects exhibit macrocytic mild anemia. We found that PIEZO1 is the most frequent mutated gene within our families (47% of pedigrees). In 59.1% of cases the mutations localized in the nonpore protein domain, while in 40.9% of patients they localized in the central pore region. The genotype-phenotype correlation analysis on 29 PIEZO1-patients demonstrated that most of severely affected patients carried mutations in the pore domain, suggesting that the severity of this condition is related to the pore properties and intracellular domain that could be responsible of interactions with intracellular components. This is the first cohort study on a large set of hereditary stomatocytosis patients, stratified according to their causative gene useful for diagnosis, prognosis, and management of these patients.
Asunto(s)
Anemia Hemolítica Congénita/genética , Estudios de Asociación Genética , Hidropesía Fetal/genética , Estudios de Cohortes , Femenino , Humanos , Canales Iónicos/genética , Masculino , Mutación , Dominios Proteicos/genética , Estudios Retrospectivos , Medición de RiesgoRESUMEN
Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively. Seventy-four probands from 62 unrelated families were investigated. Our study includes the most comprehensive gene set for these anemias and the largest cohort of patients described so far. We obtained an overall diagnostic yield of 64.9%. Despite 54.2% of cases showed conclusive diagnosis fitting well to the clinical suspicion, the multi-gene analysis modified the original clinical diagnosis in 45.8% of patients (nonmatched phenotype-genotype). Of note, 81.8% of nonmatched patients were clinically suspected to suffer from CDA. Particularly, 45.5% of the probands originally classified as CDA exhibited a conclusive diagnosis of chronic anemia due to enzymatic defects, mainly due to mutations in PKLR gene. Interestingly, we also identified a syndromic CDA patient with mild anemia and epilepsy, showing a homozygous mutation in CAD gene, recently associated to early infantile epileptic encephalopathy-50 and CDA-like anemia. Finally, we described a patient showing marked iron overload due to the coinheritance of PIEZO1 and SEC23B mutations, demonstrating that the multi-gene approach is valuable not only for achieving a correct and definitive diagnosis, but also for guiding treatment.
Asunto(s)
Anemia Hemolítica Congénita/diagnóstico , Pruebas Genéticas/métodos , Adolescente , Adulto , Anemia Diseritropoyética Congénita/genética , Anemia Hemolítica Congénita/genética , Anemia Hemolítica Congénita/terapia , Niño , Preescolar , Errores Diagnósticos , Manejo de la Enfermedad , Femenino , Estudios de Asociación Genética , Variación Genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Adulto JovenRESUMEN
Neuroblastoma (NBL) accounts for >7% of malignancies in patients younger than 15 years. Low- and intermediate-risk patients exhibit excellent or good prognosis after treatment, whereas for high-risk (HR) patients, the estimated 5-year survival rates is still <40%. The ability to stratify HR patients that will not respond to standard treatment strategies is critical for informed treatment decisions. In this study, we have generated a specific kinome gene signature, named Kinome-27, which is able to identify a subset of HR-NBL tumors, named ultra-HR NBL, with highly aggressive clinical behavior that not adequately respond to standard treatments. We have demonstrated that NBL cell lines expressing the same kinome signature of ultra-HR tumors (ultra-HR-like cell lines) may be selectively targeted by the use of two drugs [suberoylanilide hydroxamic acid (SAHA) and Radicicol], and that the synergic combination of these drugs is able to block the ultra-HR-like cells in G2/M phase of cell cycle. The use of our signature in clinical practice will allow identifying patients with negative outcome, which would benefit from new and more personalized treatments. Preclinical in vivo studies are needed to consolidate the SAHA and Radicicol treatment in ultra-HR NBL patients.
Asunto(s)
Antineoplásicos/farmacología , Terapia Molecular Dirigida/métodos , Neuroblastoma/enzimología , Fosfotransferasas/genética , Ciclo Celular/efectos de los fármacos , Línea Celular Tumoral , Supervivencia Celular/efectos de los fármacos , Inhibidores Enzimáticos/farmacología , Regulación Enzimológica de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Proteínas HSP90 de Choque Térmico/antagonistas & inhibidores , Inhibidores de Histona Desacetilasas/farmacología , Humanos , Macrólidos/farmacología , Neuroblastoma/tratamiento farmacológico , Neuroblastoma/genéticaRESUMEN
Isolated familial pseudohyperkalemia is a dominant red cell trait characterized by cold-induced 'passive leak' of red cell potassium ions into plasma. The causative gene of this condition is ABCB6, which encodes an erythrocyte membrane ABC transporter protein bearing the Langereis blood group antigen system. In this study analyzing three new families, we report the first functional characterization of ABCB6 mutants, including the homozygous mutation V454A, heterozygous mutation R276W, and compound heterozygous mutations R276W and R723Q (in trans). All these mutations are annotated in public databases, suggesting that familial pseudohyperkalemia could be common in the general population. Indeed, we identified variant R276W in one of 327 random blood donors (0.3%). Four weeks' storage of heterozygous R276W blood cells resulted in massive loss of potassium compared to that from healthy control red blood cells. Moreover, measurement of cation flux demonstrated greater loss of potassium or rubidium ions from HEK-293 cells expressing ABCB6 mutants than from cells expressing wild-type ABCB6. The R276W/R723Q mutations elicited greater cellular potassium ion efflux than did the other mutants tested. In conclusion, ABCB6 missense mutations in red blood cells from subjects with familial pseudohyperkalemia show elevated potassium ion efflux. The prevalence of such individuals in the blood donor population is moderate. The fact that storage of blood from these subjects leads to significantly increased levels of potassium in the plasma could have serious clinical implications for neonates and infants receiving large-volume transfusions of whole blood. Genetic tests for familial pseudohyperkalemia could be added to blood donor pre-screening. Further study of ABCB6 function and trafficking could be informative for the study of other pathologies of red blood cell hydration.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Transportadoras de Casetes de Unión a ATP/metabolismo , Hiperpotasemia/congénito , Mutación , Transportadoras de Casetes de Unión a ATP/química , Adulto , Sustitución de Aminoácidos , Cationes/metabolismo , Línea Celular , Codón , Análisis Mutacional de ADN , Eritrocitos/metabolismo , Exoma , Familia , Femenino , Expresión Génica , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hiperpotasemia/diagnóstico , Hiperpotasemia/genética , Hiperpotasemia/metabolismo , Masculino , Modelos Moleculares , Potasio/metabolismo , Conformación Proteica , Relación Estructura-ActividadRESUMEN
BACKGROUND AND PURPOSE: The purpose of the present study is to evaluate the vascular malformations of the head and neck. They are uncommon lesions, but some areas have a significant potential for fatality, due to their massive bleeding. The vascular anatomy of the nose carries a high recurrence rate, due to the unique characteristic of the nose, especially if deep vascular connection is present. METHODS: The present article describes 2 patients of nasal dorsum arteriovenous malformations, both using a combined procedure: preoperative selective embolization, en-bloc tumor resection, and reconstruction with a forehead flap. Two female patients with arterio-venous malformations of the nose were examined, subjected to excision procedure and forehead flap reconstruction. Current treatment requires surgical resection of the nose and in conjunction with adjunctive endovascular embolization; it reduces arterio-venous malformations recurrence. RESULTS: The authors report an endovascular and surgical technique to treat nasal arterio-venous malformations, which permits a complete resection and a reconstruction with a forehead flap. There were no major complications such as recurrent ulceration, infection, postoperative bleeding, or flap failure. All the patients responded positively and satisfactory results were achieved in both female patients. CONCLUSIONS: To reduce the recurrence of arterio-venous malformations, the multidisciplinary therapy is mandatory. Recent advances in microsurgery and interventional radiology have greatly improved prognosis for patients with arterio-venous malformations. Therefore, a preoperative selective embolization followed by surgical excision seems to be a good compromise for arterio-venous malformations therapy. The forehead flap, for its characteristics, represents the better choice for nasal reconstruction.
Asunto(s)
Malformaciones Arteriovenosas/cirugía , Frente/cirugía , Nariz , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos/cirugía , Femenino , Humanos , Nariz/irrigación sanguínea , Nariz/cirugíaRESUMEN
Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased potassium content, elevated MCHC and MCV, and decreased osmotic fragility. The majority of symptomatic DHSt cases reported to date have been associated with gain-of-function mutations in the mechanosensitive cation channel gene, PIEZO1. A recent study has identified two families with DHSt associated with a single mutation in the KCNN4 gene encoding the Gardos channel (KCa3.1), the erythroid Ca(2+) -sensitive K(+) channel of intermediate conductance, also expressed in many other cell types. We present here, in the second report of DHSt associated with KCNN4 mutations, two previously undiagnosed DHSt families. Family NA exhibited the same de novo missense mutation as that recently described, suggesting a hot spot codon for DHSt mutations. Family WO carried a novel, inherited missense mutation in the ion transport domain of the channel. The patients' mild hemolytic anemia did not improve post-splenectomy, but splenectomy led to no serious thromboembolic events. We further characterized the expression of KCNN4 in the mutated patients and during erythroid differentiation of CD34+ cells and K562 cells. We also analyzed KCNN4 expression during mouse embryonic development.
Asunto(s)
Anemia Hemolítica Congénita/genética , Hidropesía Fetal/genética , Canales de Potasio de Conductancia Intermedia Activados por el Calcio/genética , Mutación Missense , Adolescente , Adulto , Anemia Hemolítica Congénita/cirugía , Animales , Femenino , Humanos , Hidropesía Fetal/cirugía , Células K562 , Masculino , Ratones , Esplenectomía/efectos adversos , Tromboembolia/etiología , Tromboembolia/genéticaAsunto(s)
Anemia Diseritropoyética Congénita , Aspartato Carbamoiltransferasa , Carbamoil-Fosfato Sintasa (Glutamina-Hidrolizante) , Dihidroorotasa , Homocigoto , Mutación , Uridina/administración & dosificación , Anemia Diseritropoyética Congénita/sangre , Anemia Diseritropoyética Congénita/tratamiento farmacológico , Anemia Diseritropoyética Congénita/genética , Anemia Diseritropoyética Congénita/patología , Aspartato Carbamoiltransferasa/genética , Aspartato Carbamoiltransferasa/metabolismo , Carbamoil-Fosfato Sintasa (Glutamina-Hidrolizante)/genética , Carbamoil-Fosfato Sintasa (Glutamina-Hidrolizante)/metabolismo , Preescolar , Dihidroorotasa/genética , Dihidroorotasa/metabolismo , Humanos , MasculinoAsunto(s)
Anemia Diseritropoyética Congénita/genética , Hormonas Peptídicas/genética , Adolescente , Adulto , Anemia Diseritropoyética Congénita/sangre , Animales , Estudios de Casos y Controles , Niño , Femenino , Humanos , Células K562 , Leucocitos/metabolismo , Leucocitos/patología , Masculino , Ratones , Ratones Transgénicos , Hormonas Peptídicas/sangre , Regulación hacia Arriba/genética , Adulto JovenAsunto(s)
Anemia Diseritropoyética Congénita/patología , Factor de Transcripción GATA1/genética , Proteínas de Transporte Vesicular/metabolismo , Adulto , Anemia Diseritropoyética Congénita/genética , Factor de Transcripción GATA1/fisiología , Humanos , Persona de Mediana Edad , Polimorfismo Genético , Adulto JovenRESUMEN
We present the case of a 15-year-old boy who presented to our emergency department because of a soft lesion growing on the back of his tongue. On examination, a vegetant mass on the posteromidline lingual part of the body of the tongue was noticed: it was not painful, even if the boy reported discomfort because of its size; there was no bleeding or signs of infection. The magnetic resonance imaging showed the lesion as trilobated and capsulated, but was not diriment to define a diagnosis; excisional biopsy was performed under general anesthesia, and the mass was identified as a schwannoma. Schwannoma, or neurilemmoma, is a benign tumor originating from Schwann cells of the nerve sheath surrounding peripheral nerves. It is slow-growing, usually solitary, and encapsulated. Intraoral schwannomas are rare and account for 1% of lesions of the head and neck region. There is no sex predilection. The symptoms depend on size and location of the tumor. Recurrence is rare after complete surgical resection. The present study aimed to retrospectively describe our experience with a case of neurilemmoma of the tongue presenting in childhood, the diagnostic methods used, the surgical decision, and the treatment outcome and to analyze the data and review the literature available on this type of tumor. The etiology, clinical presentation, differential diagnosis, and management are discussed.