Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 26
Filtrar
Más filtros

Bases de datos
País/Región como asunto
Tipo del documento
Intervalo de año de publicación
1.
Pol J Radiol ; 86: e143-e150, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33828624

RESUMEN

PURPOSE: The diagnosis of Crohn's disease (CD), one of the inflammatory bowel diseases (IBD), along with ulcerative colitis (UC), is often challenging due to the limitations of small intestine visualisation. Magnetic resonance enterography (MRE) enables imaging of intraluminal and extraintestinal complications without ionizing radiation. The objective of this study is to select CD-related MRE features and determine the feasibility of this technique to indicate a group of patients that should be subjected to more invasive diagnostic procedures. MATERIAL AND METHODS: A total of 131 patients (mean age 25) underwent MRE, 60 of whom had been previously diagnosed with CD and 17 with UC. Additionally, 26 patients with suspected IBD and 28 with other or unknown pathologies were included in the study. Radiological reports of MRE examinations, effectuated using a 1.5-T field strength, were retrospectively analysed regarding radiological features of IBD, such as the following: bowel wall thickening, enhancement, comb sign, stricture, enlarged mesenteric nodes, inflammatory infiltration, and abnormal diffusion restriction in diffusion-weighted imaging. The statistical model was based on machine learning of the Kohonen map, together with univariate and multivariate analysis. RESULTS: The selected neuron (Neuron 3) incorporated 23 cases of CD, 9 of suspected IBD, 2 patients with UC, and 4 with other pathologies. The statistical analysis identified bowel wall thickening, intestinal stricture, and lymphadenopathy as the 3 MRE findings most associated with Neuron 3 (AUC = 0.919, p = 0.031). CONCLUSIONS: Bowel wall thickening, stricture, and enlarged mesenteric lymph nodes in MRE are independent predictive factors for CD diagnosis; thus, patients presenting these features should undergo further examinations. MRE constitutes a powerful imaging modality in cases of suspected IBD.

2.
Dev Med Child Neurol ; 61(3): 359-365, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30246501

RESUMEN

AIM: The aim of this study was to assess parameters of retinal morphology by using high-definition optical coherence tomography (OCT) in patients with Wolfram syndrome (WFS) and their relation to optic tract atrophy in magnetic resonance imaging (MRI). METHOD: High-definition OCT and MRI parameters were evaluated in 12 patients with WFS (three males, nine females; median age at examination 12y 8mo, range 10y 2mo-15y 11mo) and referred to 30 individuals with type 1 diabetes (T1D) (12 males, 18 females; median age at examination 20y 5mo, range 16y 8mo-21y 4mo) and 33 typically developing comparison participants (10 males, 23 females; median age at examination 20y 7mo, range 13y-22y 4mo). RESULTS: Total thickness and quadrant thickness of the retinal nerve fibre layer (RNFL), macular full-thickness parameters and macular ganglion cell layer/inner plexiform layer, intraorbital and intracranial thickness of the optical nerve, as well as the optic chiasm and visual tracts were significantly reduced in patients with WFS compared with those having T1D and the typically developing comparison participants. Optic chiasm thickness correlated negatively in patients with WFS with both age (r=-0.79; p=0.002) and duration of diabetes (r=-0.62; p=0.032). Thickness of the intraorbital parts of the optic nerves in patients with WFS correlated positively with thickness of the superior RNFL (r=0.73; p=0.006). INTERPRETATION: High-definition OCT in combination with MRI could become an important tool for evaluating the effectiveness of therapeutic trials in patients with WFS. WHAT THIS PAPER ADDS: Provides evidence of significant reduction of retinal parameters and optic nerves in patients with Wolfram syndrome (WFS). Shows correlations between magnetic resonance imaging parameters and retinal morphology parameters in patients with WFS.


Asunto(s)
Vías Visuales/diagnóstico por imagen , Síndrome de Wolfram/diagnóstico por imagen , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Nervio Óptico/diagnóstico por imagen , Tracto Óptico/diagnóstico por imagen , Retina/diagnóstico por imagen , Tomografía de Coherencia Óptica , Adulto Joven
3.
MAGMA ; 32(3): 381-390, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30498885

RESUMEN

OBJECTIVE: The aim of the study was to evaluate feasibility of diffusion-weighted whole-body imaging with background body signal suppression (DWIBS) method in diagnosing Hodgkin lymphoma in pediatric patients and to compare it with 18F-FDG PET/CT as a gold standard. MATERIALS AND METHODS: Eleven patients (median age 14) with newly diagnosed Hodgkin lymphoma were examined with 18F-FDG PET/CT and MRI including whole-body DWIBS sequence (b = 0, 800 s/mm2), before the oncologic treatment. About 26 locations of lymphatic tissues were evaluated visually and quantitatively using ADCmean (DWIBS) and SUVmax (18F-FDG PET/CT), respectively. RESULTS: All affected lymph node regions (n = 134) diagnosed in 18F-FDG PET/CT were found with DWIBS, presenting decreased diffusion. Significant correlation was found between ADC and SUV values (R2 = - 0.37; p = 0.0001). Nevertheless, additional 33 regions were recognized only by DWIBS. They were significantly smaller than regions diagnosed by both methods. DISCUSSION: Agreement between DWIBS and 18F-FDG PET/CT for detection and staging of malignant lymphoma is high. DWIBS can be used for the evaluation of pediatric Hodgkin lymphoma.


Asunto(s)
Imagen de Difusión por Resonancia Magnética , Enfermedad de Hodgkin/diagnóstico por imagen , Ganglios Linfáticos/diagnóstico por imagen , Linfoma/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Imagen de Cuerpo Entero/métodos , Adolescente , Encéfalo/diagnóstico por imagen , Niño , Estudios de Factibilidad , Femenino , Fluorodesoxiglucosa F18 , Humanos , Masculino , Estadificación de Neoplasias
4.
Childs Nerv Syst ; 34(5): 845-851, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29322338

RESUMEN

INTRODUCTION: Recognizing patients with ventriculomegaly who are at risk of developing acute hydrocephalus presents a challenge for the clinician. The association between disturbed cerebrospinal fluid flow (CSF) and impaired brain compliance may play a role in the pathogenesis of hydrocephalus. Phase contrast MRI is a noninvasive technique which can be used to assess CSF parameters. The aim of the work is to evaluate the effectiveness of phase contrast MRI in recognizing patients at risk of acute hydrocephalus, based on measuring the pulsatile CSF flow parameters in the Sylvian aqueduct and prepontine cistern in children with ventriculomegaly. AIM: The aim of the work is to characterize the parameters of cerebrospinal fluid (CSF) flow in the Sylvian aqueduct and prepontine cistern in children with ventriculomegaly with regard to patient age and symptoms. We hypothesize that the relationship between CSF flow parameters in these two regions will vary according to analyzed factors and it will allow to recognize children at risk of hydrocephalus. MATERIALS AND METHODS: A group of 26 children with ventriculomegaly (five girls and 21 boys) underwent phase contrast MRI examinations (Philips 3T Achieva with Q-flow integral application). Amplitudes of average and peak velocities of the CSF flow through the Sylvian aqueduct and prepontine cistern were used to calculate ratios of oscillation and peak velocities, respectively. The relationship between the oscillation coefficient, the peak velocity coefficient, and stroke volume was then assessed in accordance with age and clinical symptoms. RESULTS: The peak velocity coefficient was significantly higher in patients with hyper-oscillating flow through the Sylvian aqueduct (3.04 ± 3.37 vs. 0.54 ± 0.28; p = 0.0094). Moreover, these patients tended to develop symptoms more often (p = 0.0612). No significant age-related changes were observed in CSF flow parameters. CONCLUSION: Phase contrast MRI is a useful tool for noninvasive assessment of CSF flow parameters. The application of coefficients instead of direct values seems to better represent hemodynamic conditions in the ventricular system. However, further studies are required to evaluate their clinical significance and normal limits.


Asunto(s)
Tronco Encefálico/diagnóstico por imagen , Acueducto del Mesencéfalo/diagnóstico por imagen , Líquido Cefalorraquídeo/fisiología , Hidrocefalia/diagnóstico por imagen , Imagen por Resonancia Magnética , Acueducto del Mesencéfalo/patología , Niño , Preescolar , Medios de Contraste/farmacocinética , Femenino , Humanos , Lactante , Masculino
5.
Pediatr Blood Cancer ; 64(6)2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-27860334

RESUMEN

OBJECTIVE: One of the therapeutic options for patients with tuberous sclerosis (TCS) and subependymal giant cell astrocytoma (SEGA) is everolimus treatment once daily, every day, to attain trough concentrations of 5-15 ng/ml (standard treatment). The aim of this study was to evaluate the efficacy and safety of a reduced dose of everolimus (three times a week with a daily dose as in standard treatment-maintenance therapy) in a group of patients who were previously treated with standard dose for at least 12 months. MATERIALS AND METHODS: Ten patients (six males, four females; median age 14.23 years) with TSC-related SEGA who met inclusion criteria were included into a single-arm, prospective trial. All the patients were followed over at least 12 months (median 12 and range 12-24 months). Tumor volumes from day 0, 90, 180, and 360 were evaluated by an experienced radiologist and an objective computer-based method and compared. Adverse events (AEs) noted during maintenance therapy were compared to the AEs observed during standard everolimus therapy. RESULTS: The differences in SEGA volume between subsequent time points (day 0, 90, 120, and 360) were not statistically significant. No clinical symptoms of tumor regrowth were observed. AEs were significantly less severe and less frequent during maintenance compared with standard therapy. CONCLUSIONS: Maintenance therapy with reduced-dose everolimus is an effective therapeutic option for patients with TSC and SEGA after the completion of standard therapy and may moderate the rates of adverse effects.


Asunto(s)
Astrocitoma/tratamiento farmacológico , Everolimus/administración & dosificación , Quimioterapia de Mantención , Esclerosis Tuberosa/tratamiento farmacológico , Adolescente , Adulto , Astrocitoma/diagnóstico por imagen , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Esclerosis Tuberosa/diagnóstico por imagen
6.
MAGMA ; 30(4): 397-405, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28321524

RESUMEN

OBJECTIVE: To evaluate the reliability of the standard planimetric methodology of volumetric analysis and three different open-source semi-automated approaches of brain tumor segmentation. MATERIALS AND METHODS: The volumes of subependymal giant cell astrocytomas (SEGA) examined by 30 MRI studies of 10 patients from a previous everolimus-related trial (EMINENTS study) were estimated using four methods: planimetric method (modified MacDonald ellipsoid method), ITK-Snap (pixel clustering, geodesic active contours, region competition methods), 3D Slicer (level-set thresholding), and NIRFast (k-means clustering, Markov random fields). The methods were compared, and a trial simulation was performed to determine how the choice of approach could influence the final decision about progression or response. RESULTS: Intraclass correlation coefficient was high (0.95; 95% CI 0.91-0.98). The planimetric method always overestimated the size of the tumor, while virtually no mean difference was found between ITK-Snap and 3D Slicer (P = 0.99). NIRFast underestimated the volume and presented a proportional bias. During the trial simulation, a moderate level of agreement between all the methods (kappa 0.57-0.71, P < 0.002) was noted. CONCLUSION: Semi-automated segmentation can ease oncological follow-up but the moderate level of agreement between segmentation methods suggests that the reference standard volumetric method for SEGA tumors should be revised and chosen carefully, as the selection of volumetry tool may influence the conclusion about tumor progression or response.


Asunto(s)
Astrocitoma/diagnóstico por imagen , Neoplasias Encefálicas/diagnóstico por imagen , Neuroimagen/métodos , Simulación por Computador , Humanos , Interpretación de Imagen Asistida por Computador/métodos , Imagenología Tridimensional/métodos , Imagenología Tridimensional/estadística & datos numéricos , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/estadística & datos numéricos , Neuroimagen/estadística & datos numéricos , Reproducibilidad de los Resultados , Carga Tumoral
7.
Neuro Endocrinol Lett ; 37(3): 174-178, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27618599

RESUMEN

Langerhans cell histiocytosis (LCH) in adults is a rare disorder of unknown etiology characterized by monoclonal proliferation of Langerhans cells. It belongs to dendritic cell disorders and occurs in 1-2 adults per million. The most common endocrine manifestation of classical LCH is associated with the posterior pituitary, with clinical symptoms of diabetes insipidus. Less than 80 reported cases of LCH involving the thyroid gland have been published so far. We present the case of a 39 years old woman with 10 years history of diabetes insipidus and secondary amenorrhoea, which appeared after second delivery. She was suspected for lymphocytic inflammation of pituitary and she was administered steroid treatment. She was also treated symptomatically with desmopressin, L-thyroxine, estrogen and progestagen replacement therapy due to diabetes insipidus, secondary hypothyroidism and hypogonadotropic hypogonadism. In September 2014, she noticed a painless, firm tumour of the neck. Ultrasound (US) examination demonstrated bilateral, solid, hypoechogenic thyroid nodules. The result of fine-needle aspiration biopsy (FNAB) was not diagnostic. Due to rapid progression and US image of the tumour, she was referred for surgery. In postoperative histopathology tumour cells were positive for CD1a and S-100 protein, therefore diagnosis of LCH was established. Postoperatively, the results of thoracic computed tomography scan, abdominal US and bone scintigraphy revealed no evidence of multifocal disease. We have not observed any disease recurrence in the patient after a year of follow-up in postoperative course. This case illustrates diagnostic and therapeutic difficulties in patient with LCH.


Asunto(s)
Bocio/etiología , Histiocitosis de Células de Langerhans/complicaciones , Hipopituitarismo/etiología , Adulto , Biopsia con Aguja Fina , Femenino , Bocio/diagnóstico por imagen , Bocio/cirugía , Histiocitosis de Células de Langerhans/diagnóstico por imagen , Histiocitosis de Células de Langerhans/cirugía , Hormonas/sangre , Humanos , Hipopituitarismo/diagnóstico por imagen , Hipopituitarismo/cirugía , Imagen por Resonancia Magnética , Resultado del Tratamiento , Ultrasonografía
8.
Pediatr Blood Cancer ; 62(4): 616-21, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25557360

RESUMEN

BACKGROUND: The aim of the study was to investigate factors affecting response to everolimus, a mammalian-target-of-rapamycin (mTOR) inhibitor, of subependymal giant cell astrocytomas (SEGA) in patients with tuberous sclerosis complex (TSC). METHODS: The study group consisted of 15 children with a diagnosis of TSC-related SEGA. Median therapy duration was 13 months. Age, sex, previous neurosurgical or mTOR inhibitor treatment, everolimus blood concentration and anticonvulsant therapy were analyzed as potential factors affecting reduction of SEGA tumor volume. RESULTS: Significant reductions in SEGA volumes were noted at 3 and 6 months (median tumor volume 0.97 cm(3) and 0.70 cm(3) , respectively, versus 2.70 cm(3) at baseline, P = 0.001). Responses were observed in 11/15 (73.3%) and 10/12 (83.3%) patients at 3 and 6 months, respectively. The most rapid reduction of SEGA volume (58.6%) was found during the initial 3 months of treatment. There was no statistical difference in the extent of SEGA volume reduction between patients with everolimus trough levels <5 ng/ml and ≥5 ng/ml. Patients treated with ≤1 anticonvulsant had greater tumor reduction after 6 months of treatment. CONCLUSIONS: Everolimus is an effective and safe treatment option for TSC-related SEGA. Drug dose titration according to blood concentration did not appear to be crucial to achieve clinical efficacy; however, concomitant anticonvulsant therapy may affect response to mTOR inhibitors.


Asunto(s)
Astrocitoma , Inmunosupresores , Neoplasias Primarias Secundarias , Sirolimus/análogos & derivados , Esclerosis Tuberosa , Adolescente , Factores de Edad , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/farmacocinética , Astrocitoma/sangre , Astrocitoma/tratamiento farmacológico , Astrocitoma/patología , Niño , Preescolar , Everolimus , Femenino , Humanos , Inmunosupresores/administración & dosificación , Inmunosupresores/farmacocinética , Masculino , Proteínas de Neoplasias/antagonistas & inhibidores , Neoplasias Primarias Secundarias/sangre , Neoplasias Primarias Secundarias/tratamiento farmacológico , Neoplasias Primarias Secundarias/patología , Factores Sexuales , Sirolimus/administración & dosificación , Sirolimus/farmacocinética , Serina-Treonina Quinasas TOR/antagonistas & inhibidores , Factores de Tiempo , Esclerosis Tuberosa/sangre , Esclerosis Tuberosa/tratamiento farmacológico , Esclerosis Tuberosa/patología
9.
Ginekol Pol ; 86(10): 774-81, 2015 Oct.
Artículo en Polaco | MEDLINE | ID: mdl-26677588

RESUMEN

OBJECTIVES: The aim of the study was to evaluate the usefulness of US in the diagnosis of posterior fossa abnormalities in neonates by posterolateral fontanelle as compared with the anterior fontanelle approach and MRI. MATERIAL AND METHODS: US studies were performed on 1337 neonates, including 512 preterm infants, through the anterior and posterolateral fontanelles. Abnormalities were detected in 134 patients. Among them, abnormalities in posterior fossa were visualized with the posterolateral approach in 14 neonates. MR images were obtained in that subgrqup. RESULTS: The lesions consisted of cerebellar hemorrhage and congenital cerebellar malformations. Foci of hemorrhage were visualized by US in preterm neonates (n = 5), only through the posterolateral approach and on MRI. Dandy-Walker malformations (n = 2) were detected by US with both approaches and confirmed on MRI. In pontocerebellar hypoplasia (n =2), US with both approaches, showed hypoplastic cerebellar hemispheres and fluid in the posterior fossa. MRI, additionally visualized pontine hypoplasia. Fluid collection in the posterior fossa and translocation of cerebellar hemispheres were observed in the other 6 neonates by US with both approaches. MRI revealed arachnoid cysts (n = 2), mega cisterna magna (n = 3) and Blake's pouch (n = 1). CONCLUSIONS: US using posterolateral fontanelle is the method of choice for the diagnosis of cerebellar hemorrhage. These lesions are not visualized through anterior fontanelle. US visualization of the abnormal structures in some cerebellar malformations has similar effectiveness for both approaches. MRI plays the crucial role in identification and differential diagnosis of these malformations.


Asunto(s)
Enfermedades Cerebelosas/diagnóstico por imagen , Fontanelas Craneales/diagnóstico por imagen , Fosa Craneal Posterior/anomalías , Fosa Craneal Posterior/diagnóstico por imagen , Enfermedades del Recién Nacido/diagnóstico por imagen , Enfermedades del Prematuro/diagnóstico por imagen , Ecoencefalografía/métodos , Humanos , Recién Nacido , Recien Nacido Prematuro , Tamizaje Neonatal/métodos
10.
Genes (Basel) ; 14(9)2023 09 10.
Artículo en Inglés | MEDLINE | ID: mdl-37761924

RESUMEN

Bardet-Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare multisystem diseases with an autosomal recessive mode of inheritance and genetic heterogeneity, characterized by visual impairment, hearing impairment, cardiomyopathy, childhood obesity, and insulin resistance. The purpose of our study was to evaluate the indicators of nervous system changes occurring in patients with ALMS and BBS using optical coherence tomography (OCT) and magnetic resonance spectroscopy (MRS) methods compared to a group of healthy subjects. The OCT results showed significantly lower macular thickness in the patient group compared to the control group (p = 0.002). The MRS study observed differences in metabolite levels between the study and control groups in brain areas such as the cerebellum, thalamus, and white matter. After summing the concentrations from all areas, statistically significant results were obtained for N-acetylaspartate, total N-acetylaspartate, and total creatine. Concentrations of these metabolites were reduced in ALMS/BBS patients by 38% (p = 0.0004), 35% (p = 0.0008), and 28% (p = 0.0005), respectively. Our results may help to understand the pathophysiology of these rare diseases and identify strategies for new therapies.


Asunto(s)
Síndrome de Alstrom , Síndrome de Bardet-Biedl , Obesidad Infantil , Humanos , Niño , Síndrome de Bardet-Biedl/diagnóstico , Síndrome de Bardet-Biedl/genética , Síndrome de Alstrom/genética , Encéfalo/metabolismo
11.
Am J Med Genet A ; 158A(7): 1542-50, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22628253

RESUMEN

We document three new patients with fibular agenesis, tibial campomelia, and oligosyndactyly (FATCO). Two of these individuals had tetramelic manifestations while the third had bilateral abnormalities of the lower limbs. These patients and others reported as FATCO seem to belong to the phenotype "fibular aplasia with ectrodactyly." Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities. ©


Asunto(s)
Anomalías Múltiples/diagnóstico , Peroné/anomalías , Deformidades Congénitas de la Mano/diagnóstico , Anomalías Múltiples/genética , Niño , Femenino , Dedos/anomalías , Humanos , Recién Nacido , Deformidades Congénitas de las Extremidades , Masculino , Fenotipo , Proteínas Proto-Oncogénicas/genética , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genética , Proteínas Wnt/genética
12.
Rheumatol Int ; 32(11): 3655-9, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20473497

RESUMEN

Takayasu's arteritis (TA) rarely occurs in infants. There are only four reports on TA in children below 1 year of age, revealing diversity of its symptoms. We describe a 7-month-old female infant hospitalized for hectic fever, irritability, high acute phase indices, and coronary artery dilatations found on echocardiography, which suggested Kawasaki disease (KD). Despite of standard treatment, rapid development of thoracic and abdominal aorta aneurysms occurred, while coronary artery abnormalities regressed. The initial diagnosis was changed for TA. Subsequently implemented glucocorticosteroids led to clinical and laboratory normalization. However, 2 months after treatment discontinuation, TA relapsed. Glucocorticosteroid therapy was restarted with additional introduction of intravenous immunoglobulins (IVIG), resulting in full and stable remission lasting over 1 year. Thus, diagnosis and treatment of infant TA pose a big challenge to physicians. TA onset in infants may mimics KD. Prolonged glucocorticosteroids and IVIG administration can be recommended in the youngest patients with TA.


Asunto(s)
Glucocorticoides/uso terapéutico , Inmunoglobulinas Intravenosas/uso terapéutico , Síndrome Mucocutáneo Linfonodular/diagnóstico , Arteritis de Takayasu/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Arteritis de Takayasu/tratamiento farmacológico , Resultado del Tratamiento
13.
J Clin Med ; 11(10)2022 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-35629053

RESUMEN

Background: Performing functional magnetic resonance imaging (fMRI) examination is difficult when a child needs to stay awake and cooperate. Many techniques help to prepare them for the study but without modification of the examination protocol. The objective of this research was to prepare a gamified motor paradigm ("computer game") that will improve the fMRI examination of young children. Methods: After preparing a dedicated application the fMRI examination was performed on 60 healthy children (10 girls and 10 boys in each age group of 4, 5, and 6 years old). Each child performed the gamified and a standard motor paradigm, both based on squeezing a rubber bulb. The effectiveness of squeezing were compared. Results: With the application of the gamified paradigm children completed significantly more active blocks (3.3 ± 1.4) than for the standard paradigm (2.2 ± 1.6) (p < 0.0001). In mixed-effects Poisson regression, age (IRR = 1.9; 95%CI: 1.5−2.5) and application of gamified paradigm (IRR = 5.6; 95%CI: 1.1−28.0) were significantly associated with more completed blocks. Conclusions: The gamified motor paradigm performed better than a standard paradigm in the fMRI examination of children between 4 and 6 years old. It allowed a significant increase in the number of completed active blocks and also better squeezing effectiveness in each block.

15.
Front Neurol ; 12: 581102, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33897576

RESUMEN

The aim of this EMINENTS prospective, single-center, open-label, single-arm study was to evaluate the cumulative efficacy and safety of reduced doses of everolimus (maintenance therapy) in patients with tuberous sclerosis and subependymal giant cell astrocytoma (SEGA). Methods: The trial included 15 patients who had undergone at least 12 months of treatment with a standard everolimus dose. The dose of everolimus was reduced to three times a week, with a daily dose as in standard regimen. Data of 14 patients were analyzed. SEGA volume (SV) was evaluated at study entry and subsequent time points by an experienced radiologist. Adverse events (AEs) noted during maintenance therapy were compared to the AEs of standard dose period. Results: Patients were followed over a mean duration 58.37 months (95%CI: 45.95-70.78). The differences in SEGA volume between subsequent time points (0, 3, 6,12, 18, 24, 36, 48, and 60 months) were not statistically significant (p = 0.16). At the end of the study, 7 out of 10 patients had stable SEGA volume. No clinical symptoms of progression were observed in any patients. No patient or tumor-related risk factors of progression were identified. Regarding AEs, infections (stomatitis, bronchitis, diarrhea) and laboratory abnormalities (neutropenia, anemia, hyperglycemia) occurred less frequently during maintenance therapy compared to the standard dose regimen. Conclusions: Final results from EMINENTS study confirm that maintenance therapy with everolimus might represent a rational therapeutic option for patients TSC and SEGA after effective full dose treatment. It could be an option for patients who experienced everolimus-related AEs, instead of discontinuation of therapy. Careful evaluation of possible progression, especially concerning first six months of maintenance therapy should be advised. Clinical Trial Registration: www.drks.de, identifier DRKS00005584.

16.
J Pediatr Endocrinol Metab ; 33(2): 319-322, 2020 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-31926096

RESUMEN

Background Cerebral edema (CE) is one of the most serious complications of diabetic ketoacidosis (DKA) and can result in central nervous system (CNS) disorders and even lead to death of the patient. Case presentation We present the case of a 11-year-old boy with severe DKA in the course of newly diagnosed type 1 diabetes (T1D). The delay in the diagnosis of DKA and some therapeutic problems contributed to the development of CE and direct life-threatening conditions. Early diagnosis of CE development in the course of DKA using non-invasive methods such as pachymetry or transorbital ultrasound seems to be a very important prognostic factor. Conclusions This case highlights the importance of appropriate treatment according to the newest recommendations and presents the usefulness of new diagnostic methods to assess the risk of CE in children with newly diagnosed T1D.


Asunto(s)
Edema Encefálico/etiología , Diagnóstico Tardío/efectos adversos , Diabetes Mellitus Tipo 1/fisiopatología , Cetoacidosis Diabética/complicaciones , Edema Encefálico/diagnóstico , Edema Encefálico/terapia , Niño , Diabetes Mellitus Tipo 1/complicaciones , Cetoacidosis Diabética/patología , Humanos , Masculino , Pronóstico , Factores de Riesgo
17.
Children (Basel) ; 7(10)2020 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-33028049

RESUMEN

Toxocariasis is one of the most common zoonoses, with high seroprevalence in apparently healthy individuals. Neuroblastoma is an aggressive childhood cancer. The cure rates are improving due to dose-dense chemotherapy, progress in surgical practice, myeloablative therapy with autologous stem cell transplantation, and recently, anti-GD2 immunotherapy. This is associated with a burden of complications, some of which are relatively specific for neuroblastoma treatment. Based on previous reports of Toxocara canis infection in high-risk neuroblastoma patients and cases of pulmonary exacerbation from our center in this disease, we propose that toxocariasis is a specific complication of intensive pediatric cancer treatment and advocate for active surveillance.

18.
Artículo en Inglés | MEDLINE | ID: mdl-33132210

RESUMEN

INTRODUCTION: Patients with the ultra-rare Wolfram syndrome (WFS) develop insulin-dependent diabetes and progressive neurodegeneration. The aim of the study was to quantify microRNAs (miRNAs) in sera from patients with WFS, correlate their expression with neurological imaging over time and compare miRNA levels with those observed in patients with type 1 diabetes mellitus (T1DM). RESEARCH DESIGN AND METHODS: We quantified miRNA expression (Qiagen, Germany) in two groups of patients: with WFS at study entry (n=14) and after 2 years of follow-up and in 15 glycated hemoglobin-matched (p=0.72) patients with T1DM. RESULTS: We observed dynamic changes in the expression of multiple miRNAs in patients with WFS parallel to disease progression and in comparison to the T1DM patients group. Among miRNAs that differed between baseline and follow-up WFS samples, the level of 5 increased over time (miR-375, miR-30d-5p, miR-30e-30, miR-145-5p and miR-193a-5p) and was inversely correlated with macular average thickness, while the expression of 2 (let-7g-5p and miR-22-3p) decreased and was directly correlated with neuroimaging indicators of neurodegeneration. CONCLUSIONS: Our findings show for the first time that serum miRNAs can be used as easily accessible indicators of disease progression in patients with WFS, potentially facilitating clinical trials on mitigating neurodegeneration.


Asunto(s)
MicroARNs , Neuroimagen , Síndrome de Wolfram , Alemania , Humanos , MicroARNs/genética , Tungsteno , Síndrome de Wolfram/genética
19.
Am J Med Genet A ; 149A(10): 2166-72, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19764033

RESUMEN

We report on two siblings with a severe neonatal form of spondylometaphyseal dysplasia (SMD). Similar cases have been reported in four publications. Analysis of pedigree data from the original and present families suggests an autosomal recessive mode of inheritance, although parental gonadal mosaicism is also possible. The similarities in the phenotype between our patients and spondyloepimetaphyseal dysplasia congenita (SEMDC) and spondyloepimetaphyseal dysplasia Strudwick (SEMDS) type, indicated that these patients could have a defect in the COL2A1 gene. Molecular analysis of genomic DNA of these patients excluded this gene. Another potential candidate gene PTHR1, was also analyzed in the selected regions and no mutation was found. This gene is probably causative in the Jansen type of SMD, which shares some phenotypic features with the siblings whom we documented. Our results indicate that a new candidate gene for the reported form of SMD should be sought.


Asunto(s)
Osteocondrodisplasias/diagnóstico , Hermanos , Niño , Colágeno Tipo II/genética , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/genética , Masculino , Osteocondrodisplasias/congénito , Osteocondrodisplasias/genética , Receptor de Hormona Paratiroídea Tipo 1/genética , Índice de Severidad de la Enfermedad
20.
Prz Gastroenterol ; 14(1): 19-25, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30944674

RESUMEN

Radiological examination occupies a significant role, complementary to endoscopic studies, in the diagnostic process of inflammatory bowel disease (IBD). Both ulcerative colitis and Crohn's disease, due to multiple remissions and relapses, require repetitive examinations to evaluate the disease extent, severity, and response to pharmacological treatment. Whereas the use of barium contrast studies is progressively reduced, plain radiography confirms its utility as a first-line imaging tool for acute abdomen. Computed tomography remains an easily accessible and effective method to demonstrate disease activity and extraintestinal manifestations. However, the related radiation exposure reduces its applicability to urgent situations. Ultrasound and magnetic resonance, with the great advantage of avoiding ionising radiation, are highly recommended to present the complications of IBD. Use of oral and intravenous contrast in computed tomography enterography and magnetic resonance enterography demonstrates IBD involvement in the small intestine wall, which is difficult to assess in other radiological and endoscopic examinations.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA