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1.
Pediatr Res ; 2024 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-38909159

RESUMEN

BACKGROUND: The present study aims to evaluate possible cardiac involvement in juvenile dermatomyositis (JDM) patients by conventional methods and cardiac magnetic resonance imaging (MRI) along with a systematic review of the literature on cardiac features in JDM. METHODS: The study group consisted of JDM patients who underwent cardiac MRI. We conducted a systematic review of the published literature involving JDM patients with cardiac involvement. RESULTS: In the present study, although baseline cardiologic evaluations including electrocardiography and echocardiography were within normal limits, we showed late gadolinium enhancement on cardiac MRI in 3 of 11 JDM patients. In the literature review, we identified 25 articles related to cardiac involvement in JDM. However, none of them, except one case report, included cardiac MRI of JDM patients. CONCLUSION: Cardiac abnormalities have been reported among the less frequent findings in patients with JDM. Cardiovascular complications during the long-term disease course are a leading cause of morbidity and mortality in these patients. Early detection of cardiac involvement by cardiac MRI in patients with JDM and aggressive treatment of them may improve the clinical course of these patients. IMPACT: The myocardium in patients with JDM may be involved by inflammation. Myocardial involvement may be evaluated by using contrast-enhanced cardiac MRI. This is the first study evaluating cardiac involvement by cardiac MRI in JDM patients. MRI may show early cardiac involvement in patients whose baseline cardiologic evaluations are within normal limits. Early detection of cardiac involvement by cardiac MRI may improve the long-term prognosis of patients with JDM.

2.
Pediatr Radiol ; 54(1): 1-11, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-38041712

RESUMEN

In pediatric radiology, balancing diagnostic accuracy with reduced radiation exposure is paramount due to the heightened vulnerability of younger patients to radiation. Technological advancements in computed tomography (CT) reconstruction techniques, especially model-based iterative reconstruction and deep learning image reconstruction, have enabled significant reductions in radiation doses without compromising image quality. Deep learning image reconstruction, powered by deep learning algorithms, has demonstrated superiority over traditional techniques like filtered back projection, providing enhanced image quality, especially in pediatric head and cardiac CT scans. Photon-counting detector CT has emerged as another groundbreaking technology, allowing for high-resolution images while substantially reducing radiation doses, proving highly beneficial for pediatric patients requiring frequent imaging. Furthermore, cloud-based dose tracking software focuses on monitoring radiation exposure, ensuring adherence to safety standards. However, the deployment of these technologies presents challenges, including the need for large datasets, computational demands, and potential data privacy issues. This article provides a comprehensive exploration of these technological advancements, their clinical implications, and the ongoing efforts to enhance pediatric radiology's safety and effectiveness.


Asunto(s)
Radiología , Tomografía Computarizada por Rayos X , Humanos , Niño , Dosis de Radiación , Tomografía Computarizada por Rayos X/métodos , Programas Informáticos , Algoritmos , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Procesamiento de Imagen Asistido por Computador/métodos
3.
Neuropediatrics ; 53(2): 140-142, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35098522

RESUMEN

Congenital CD59 deficiency is an autosomal recessive disease characterized by mild-to-moderate chronic intravascular hemolysis, relapsing demyelinating peripheral neuropathies, and recurrent ischemic central nervous system strokes. We report a 2-year-old Turkish girl with a history of two episodes of Guillain-Barré syndrome-like acute weakness, reversible monocular abducens paralysis, and recurrent blistering skin lesions during periods of upper respiratory tract infections. Reversible monocular abducens palsy and recurrent blistering skin lesions have not been reported previously in cases of congenital CD59 deficiency.


Asunto(s)
Enfermedades del Nervio Abducens , Síndrome de Guillain-Barré , Enfermedades del Sistema Nervioso Periférico , Enfermedades del Nervio Abducens/etiología , Anemia Hemolítica , Antígenos CD59 , Preescolar , Femenino , Hemoglobinuria , Hemólisis , Humanos , Parálisis
4.
Turk J Med Sci ; 52(4): 1190-1196, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36326365

RESUMEN

BACKGROUND: Sacrococcygeal teratomas (SCT) are known as rare tumors, but they are the most common tumor in fetuses and newborns. This study aims to present fetal magnetic resonance imaging (MRI) findings of SCT diagnosed prenatally and compare them with that of the prenatal Ultrasound (US) findings. METHODS: Eleven patients diagnosed as SCT prenatally by US and further assessed by MRI are included. MRI was performed via a 1.5-T magnet with a body coil. The presence, size, content extension, and compressive effects of each mass were determined and correlated with US findings and with postnatal examinations, including surgery and pathology. As complications, the presence of ascites and skin edema or pleural or pericardial effusion was diagnosed as hydrops. The amniotic fluid index was calculated for the assessment of oligo- or polyhydramnios. RESULTS: US findings are found strongly correlated with MRI findings. An agreement on the extent of each mass was observed in eight patients, disagreement in one fetus was an extension of the tumor within the spinal canal recognized only at MR and assessment of intrapelvic-abdominal extension was superior in MRI. There were n = 6 type I, n = 2 type II, n = 1 type III and, n = 2 type IV tumors. MRI was superior to US for detecting displacement of the colon (n = 3), intrapelvic-intraabdominal extension (n = 1), urinary tract complication (n = 2), and intraspinal extension (n = 1). DISCUSSION: MRI is found to be superior to US especially in the assessment of intrapelvic and intraspinal extension of the tumor, colonic displacement, and complications.


Asunto(s)
Región Sacrococcígea , Teratoma , Femenino , Humanos , Recién Nacido , Embarazo , Región Sacrococcígea/diagnóstico por imagen , Región Sacrococcígea/patología , Teratoma/diagnóstico por imagen , Teratoma/complicaciones , Imagen por Resonancia Magnética , Feto , Atención Prenatal
5.
Acta Neurochir (Wien) ; 163(8): 2253-2268, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33830341

RESUMEN

OBJECT: The infrachiasmatic corridor is the most important surgical access route for craniopharyngiomas and was identified and used in clinical series. The aims of this study were to describe the characteristics that assist dissection and resection rates in endoscopic surgery of solid, cystic, and recurrent cases and their importance in the infrachiasmatic corridor in endoscopic surgery. METHODS: One hundred operations on 84 patients with pathologically identified craniopharyngioma were included in the study. The MRI findings were evaluated, and the location of the lesions was classified as (1) infrasellar; (2) sellar; or (3) suprasellar. In the sagittal plane, we measured the longest diameter of cystic and solid components and the height of chiasm-sella. Images were assessed for the extent of resection and were classified as gross total resection. This was deemed as the absence of residual tumor and subtotal resection, which had residual tumor. RESULTS: The infrasellar location was reported in 7/84 (8.3%) patients, the sellar location in 8/84 (9.5%), and the suprasellar location in 69/84 (82.1%) patients. The narrow and high chiasm-sella were observed in 28/69 (40.5%) and 41/69 patients (59.4%), respectively. The mean distance of the chiasm-sella was 9.46± 3.76. Gross total tumor resection was achieved in 60/84 (71.4%) and subtotal tumor resection was performed in 24/84 (28.6%) patients. The results revealed that suprasellar location (OR: 0.068; p = 0.017) and recurrent cases (OR: 0.011; p<0.001) were negative predictive factors on GTR. Increasing the experience (OR: 42,504; p = 0.001) was a positive predictor factor for GTR. CONCLUSION: An EETS approach that uses the infrachiasmatic corridor is required for skull base lesions extending into the suprasellar area. The infrachiasmatic corridor can determine the limitations of endoscopic craniopharyngioma surgery. This corridor is a surgical safety zone for inferior approaches.


Asunto(s)
Craneofaringioma , Neoplasias Hipofisarias , Craneofaringioma/diagnóstico por imagen , Craneofaringioma/cirugía , Endoscopía , Humanos , Neuroendoscopía , Nariz , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Estudios Retrospectivos , Base del Cráneo , Resultado del Tratamiento
7.
Int Ophthalmol ; 37(1): 85-93, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27068828

RESUMEN

The aim of this study was to investigate whether a correlation exists between optical coherence tomography (OCT) of retina and diffusion tensor imaging (DTI) of the optic pathway measurements. All subjects underwent OCT measurements of optic nerve head, retinal nerve fiber layer, and macula. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values of optic pathways were analyzed using DTI. Prechiasmatic FA values were significantly decreased in unilateral amblyopic group in both affected and sound fellow eyes (p = 0.019 and 0.013), but not in bilateral amblyopic group (p = 0.221) when compared with the control group. ADC values were significantly greater in sound eye in unilateral amblyopic group in prechiasmatic and postchiasmatic regions (p = 0.001 and 0.049). ADC values were also significantly greater in bilateral amblyopic group in postchiasmatic region (p = 0.037). There were no significant differences between the affected eye and sound eye side DTI measurements. There was no significant correlation between prechiasmatic DTI and OCT measurements in affected and sound eyes of unilateral amblyopia group. DTI results demonstrated that there is a functional underdevelopment of the anterior and posterior visual pathways in both affected and sound eye of unilateral amblyopic patients. Significantly reduced FA values in prechiasmatic region where OCT values of retina were normal can be explained by possible micro-structural changes.


Asunto(s)
Ambliopía/fisiopatología , Imagen de Difusión Tensora , Tomografía de Coherencia Óptica , Vías Visuales/fisiopatología , Adolescente , Ambliopía/diagnóstico por imagen , Niño , Estudios Transversales , Femenino , Humanos , Mácula Lútea/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Fibras Nerviosas/fisiología , Disco Óptico/diagnóstico por imagen , Disco Óptico/fisiopatología , Células Ganglionares de la Retina/fisiología , Tomografía de Coherencia Óptica/métodos , Agudeza Visual/fisiología
8.
Ophthalmic Plast Reconstr Surg ; 31(5): 391-5, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25549295

RESUMEN

PURPOSE: To detect abnormalities of the optic nerve in patients with thyroid orbitopathy using diffusion tensor MRI. METHODS: Twenty-eight patients with Graves orbitopathy prospectively underwent diffusion tensor imaging scanning. A full ophthalmic examination including visual acuity, intraocular pressure, fundoscopy, and visual field analysis was performed. Clinical activity scores were also calculated. Fractional anisotropy (FA) and mean diffusivity values of the patients were compared with age and sex-matched healthy control subjects. RESULTS: The mean FA values were decreased and mean diffusivity values were increased significantly in patients with Graves orbitopathy compared with the control subjects (p < 0.001). There was a strong reverse correlation between the FA levels and the visual fields in 4 quadrants of the optic nerve. In addition, there was a strong correlation between the degree of proptosis and the FA values in both eyes. The mean diffusivity levels were also correlated with changes in the visual field and the degree of proptosis. CONCLUSION: FA and mean diffusivity levels measured with the diffusion tensor imaging of the thyroid orbitopathy patients were affected. The changes in diffusion tensor imaging were also correlated with the ophthalmologic tests of the patients.


Asunto(s)
Imagen de Difusión por Resonancia Magnética , Imagen de Difusión Tensora , Oftalmopatía de Graves/diagnóstico , Enfermedades del Nervio Óptico/diagnóstico , Enfermedades Orbitales/diagnóstico , Adulto , Anciano , Femenino , Humanos , Presión Intraocular/fisiología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Agudeza Visual/fisiología , Campos Visuales/fisiología
9.
J Foot Ankle Surg ; 54(5): 782-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25736446

RESUMEN

Although pre- and postoperative imaging of Achilles tendon rupture (ATR) has been well documented, radiographic evaluations of postoperative intratendinous healing and microstructure are still lacking. Diffusion tensor imaging (DTI) is an innovative technique that offers a noninvasive method for describing the microstructure characteristics and organization of tissues. DTI was used in the present study for quantitative assessment of fiber continuity postoperatively in patients with acute ATR. The data from 16 patients with ATR from 2005 to 2012 were retrospectively analyzed. The microstructure of ART was evaluated using tendon fiber tracking, tendon continuity, fractional anisotropy, and apparent diffusion coefficient values by way of DTI. The distal and proximal portions were measured separately in both the ruptured and the healthy extremities of each patient. The mean patient age was 41.56 ± 8.49 (range 26 to 56) years. The median duration of follow-up was 21 (range 6 to 80) months. The tendon fractional anisotropy values of the ruptured Achilles tendon were significantly lower statistically than those of the normal side (p = .001). However, none of the differences between the 2 groups with respect to the distal and proximal apparent diffusion coefficient were statistically significant (p = .358 and p = .899, respectively). In addition, the fractional anisotropy and apparent diffusion coefficient measurements were not significantly different in the proximal and distal regions of the ruptured tendons compared with the healthy tendons. The present study used DTI and fiber tracking to demonstrate the radiologic properties of postoperative Achilles tendons with respect to trajectory and tendinous fiber continuity. Quantifying DTI and fiber tractography offers an innovative and effective tool that might be able to detect microstructural abnormalities not appreciable using conventional radiologic techniques.


Asunto(s)
Tendón Calcáneo/lesiones , Tendón Calcáneo/patología , Imagen de Difusión Tensora/métodos , Interpretación de Imagen Asistida por Computador , Traumatismos de los Tendones/cirugía , Tendón Calcáneo/cirugía , Adulto , Anisotropía , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Puntaje de Gravedad del Traumatismo , Masculino , Persona de Mediana Edad , Procedimientos Ortopédicos/métodos , Cuidados Posoperatorios/métodos , Control de Calidad , Valores de Referencia , Estudios Retrospectivos , Rotura/cirugía , Traumatismos de los Tendones/diagnóstico , Resultado del Tratamiento
10.
J Pediatr Hematol Oncol ; 36(2): 156-8, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24072245

RESUMEN

Giant cell tumor of the bone (GCTB) is usually a benign, locally aggressive tumor with metastatic potential. Histogenesis of GCTB is unknown and a correlation has not been found between histologic and clinical course. For this reason, many authors consider its prognosis unpredictable. Lung metastasis after GCTB treatment is well known and generally has unfavorable outcome, despite varied chemotherapy regimens. Denosumab, which inhibits RANK-RANKL interaction, is a new, promising actor among targeted therapeutic agents for GCTB. In this report, we emphasize on early rapid response to denosumab in metastatic GCTB.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Antineoplásicos/uso terapéutico , Neoplasias Óseas/tratamiento farmacológico , Tumor Óseo de Células Gigantes/tratamiento farmacológico , Adolescente , Neoplasias Óseas/patología , Denosumab , Femenino , Humanos , Metástasis de la Neoplasia , Terapia Recuperativa/métodos
12.
Pediatr Hematol Oncol ; 31(3): 237-52, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24499452

RESUMEN

Anthracyclines are widely used for the treatment of solid tumors in pediatric oncology. However, their uses may be limited by progressive chronic cardiotoxicity related to the cumulative dosage. The aims of this study are to compare diagnostic techniques and prepare an algorithm for diagnosis of anthracycline induced chronic cardiotoxicity. The patients were evaluated according to age, sex, time elapsed since the last dose of anthracycline treatment, presence of cardiovascular symptoms, follow-up duration, type of anthracycline, cumulative anthracycline dose, and concomitant mediastinal radiation therapy. Late subclinical cardiotoxicity was detected by history, physical examination, electrocardiography (ECG), Holter monitor, echocardiography (ECHO), radionuclide ventriculography (MUGA), and cardiac magnetic resonance imaging (MRI). Thirty-seven male and 19 female patients with a median age of 11.2 ± 4.6 (range, 3.5-22.0) years were included in the study. Patients were grouped according to cumulative anthracycline doses. Subclinical cardiac dysfunction was detected in 20 patients by at least one of ECHO, MRI or MUGA after anthracycline chemotherapy. We revealed that other than ECHO, MRI and MUGA have high clinical importance for evaluating subclinical late cardiac complications in children treated with anthracyclines.


Asunto(s)
Antraciclinas/efectos adversos , Cardiotoxicidad/diagnóstico , Ecocardiografía/métodos , Imagen por Resonancia Magnética/métodos , Neoplasias/tratamiento farmacológico , Ventriculografía con Radionúclidos/métodos , Adolescente , Adulto , Algoritmos , Cardiotoxicidad/etiología , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Estadificación de Neoplasias , Neoplasias/patología , Pronóstico , Tasa de Supervivencia , Sobrevivientes , Adulto Joven
13.
J Pediatr Genet ; 13(2): 116-122, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38721573

RESUMEN

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessively inherited disorder characterized by a congenital absence of conjugated horizontal eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations of the ROBO3 gene that disrupts the midline crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. We present two siblings, 5-year-old and 2-year-old boys with HGPPS, from non-consanguineous parents. The older brother was brought for the evaluation of moderate psychomotor retardation. He had bilateral horizontal gaze palsy with preserved vertical gaze and convergence. Scoliosis was absent. Cranial MRI showed brainstem abnormalities, and diffusion tensor imaging showed absent decussation of cortico-spinal tracts in the medulla. Clinical diagnosis of HGPPS was confirmed by sequencing of ROBO3 gene, IVS4-1G > A (c.767-1G > A) and c.328_329delinsCCC (p.Asp110Profs*57) compound heterozygous variations were found, and segregated in parents. The younger boy was first reported at 16 months of age and had the same clinical and neuroradiological findings, unlike mild psychomotor retardation. ROBO3 gene analysis showed the same variants in his brother. Our cases show the importance of evaluating eye movements in children with neurodevelopmental abnormalities and looking for brainstem abnormalities in children with bilateral horizontal gaze palsy.

14.
Mult Scler Relat Disord ; 88: 105735, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38981312

RESUMEN

BACKGROUND: Radiologically isolated syndrome (RIS) is a condition characterized by asymptomatic, incidentally detected demyelinating plaques in the CNS in a patient without typical clinical findings of multiple sclerosis (MS). This study aimed to compare the mental status and cognitive functions of child and adolescent RIS cases with healthy controls and to investigate the relationship between psychometric test results and the demyelinating lesion characteristics. METHODS: The mental status and cognitive functions of 12 RIS cases and 12 healthy controls were compared. Semi-structured interviews, behavioral evaluations, depression and anxiety scales, neuropsychological test battery, and an intelligence test were applied for the evaluation of mental state and cognitive functions. These results were compared with the number and localization of demyelinating lesions. RESULTS: Sustained attention, visual-motor coordination, short-term memory skills, and ability to use visual-spatial information were found worse in the RIS group. There was no correlation between mental state and cognitive functions, and the number and localization of demyelinating lesions. CONCLUSION: Our study showed that pediatric RIS cases may have worse cognitive performance than healthy controls, but no correlation was found between the number and location of demyelinating lesions and psychiatric findings. Although it is controversial whether psychiatric disorders and cognitive disabilities have predictive value in terms of MS conversion in pediatric RIS cases, these subjects were not included in the scope of this study.


Asunto(s)
Pruebas Neuropsicológicas , Humanos , Adolescente , Masculino , Femenino , Niño , Disfunción Cognitiva/etiología , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/diagnóstico por imagen , Enfermedades Desmielinizantes/diagnóstico por imagen , Enfermedades Desmielinizantes/diagnóstico , Imagen por Resonancia Magnética , Cognición/fisiología , Desempeño Psicomotor/fisiología
15.
J Belg Soc Radiol ; 108(1): 9, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38312147

RESUMEN

Objectives: To evaluate the performances of machine learning using semantic and radiomic features from magnetic resonance imaging data to distinguish cystic pituitary adenomas (CPA) from Rathke's cleft cysts (RCCs). Materials and Methods: The study involved 65 patients diagnosed with either CPA or RCCs. Multiple observers independently assessed the semantic features of the tumors on the magnetic resonance images. Radiomics features were extracted from T2-weighted, T1-weighted, and T1-contrast-enhanced images. Machine learning models, including Support Vector Machines (SVM), Logistic Regression (LR), and Light Gradient Boosting (LGB), were then trained and validated using semantic features only and a combination of semantic and radiomic features. Statistical analyses were carried out to compare the performance of these various models. Results: Machine learning models that combined semantic and radiomic features achieved higher levels of accuracy than models with semantic features only. Models with combined semantic and T2-weighted radiomics features achieved the highest test accuracies (93.8%, 92.3%, and 90.8% for LR, SVM, and LGB, respectively). The SVM model combined semantic features with T2-weighted radiomics features had statistically significantly better performance than semantic features only (p = 0.019). Conclusion: Our study demonstrates the significant potential of machine learning for differentiating CPA from RCCs.

16.
Pediatr Cardiol ; 34(8): 1785-90, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23660850

RESUMEN

Crossed pulmonary arteries (CPAs) are a rare abnormality in which the ostium of the left pulmonary artery originates superior to the right pulmonary artery and to its right. Recognition of this rare pathology is important because it generally is accompanied by other congenital heart defects, extracardiac anomalies, and certain genetic problems. To date, only a few cases have been reported, and most of these cases have been associated with complex cardiac abnormalities. The authors detected 20 cases of CPA between June 2009 and November 2012 through their increasing awareness of this anomaly. Approximately 9,250 echocardiograms were performed during this period, and all of them also were checked for this anomaly. This report describes 20 cases of this CPA, with an emphasis on the clinical features and the genetic and cardiac abnormalities. The patients ranged in age from 1 day to 13 years at the time of the initial diagnosis. Four patients had complex cardiac pathologies such as tetralogy of Fallot, truncus arteriosus, transposition of the great arteries, and complete atrioventricular septal defect. Of the 20 patients, 11 had ventricular septal defects, and 12 had atrial septal defects. Pulmonary artery stenosis was detected in 12 (55 %) of the 20 patients. Aortic arch abnormalities such as interrupted aortic arch, right aortic arch, and coarctation of the aorta were detected in six patients. One patient had a left persistent superior vena cava. In 45 % of the cases, an associated genetic syndrome (DiGeorge-, Noonan-, Holt-Oram syndromes, vertebral, anal, cardiac, tracheal, esophageal, renal, limb anomalies [VACTERL] anomalies) was present. These syndromes were diagnosed based on their clinical features. Karyotype and fluorescent in situ hybridization (FISH) analyses for a 22q11 deletion were performed for 11 patients, with 10 patients found to have normal karyotype and FISH results. Only one patient had a 22q11 deletion. Six patients underwent successful operations. During the follow-up period, 3 of the 20 patients died. At this writing, the remaining patients are clinically stable and being followed without surgery. The authors believe that CPA is not a rare anomaly. If careful echocardiographic examination is performed, CPA will be diagnosed more frequently. Although this pathology usually is associated with genetic syndromes and other cardiac abnormalities, patients with CPA generally are asymptomatic.


Asunto(s)
Anomalías Múltiples , Ecocardiografía/métodos , Pruebas Genéticas/métodos , Cardiopatías Congénitas/diagnóstico , Arteria Pulmonar/anomalías , Tomografía Computarizada por Rayos X/métodos , Malformaciones Vasculares/diagnóstico , Adolescente , Procedimientos Quirúrgicos Cardiovasculares/métodos , Niño , Preescolar , Femenino , Estudios de Seguimiento , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/cirugía , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Cariotipo , Masculino , Pronóstico , Estudios Retrospectivos , Malformaciones Vasculares/genética , Malformaciones Vasculares/cirugía
17.
Turk Neurosurg ; 33(3): 431-436, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36951029

RESUMEN

AIM: To analyze the success rates of repeat endoscopic third ventriculostomy (re-ETV) procedure according to ventriculostomy orifice closure types in patients who have undergone a second neuroendoscopic surgery for non-communicating hydrocephalus. MATERIAL AND METHODS: The study included 74 patients who underwent re-ETV procedure due to dysfunctional ventriculostomy orifice. Ventriculostomy closure patterns are classified into three types: Type-1 is defined as the complete closure of the orifice with non-transparent gliosis or scar tissue. Type-2 represents the closure or narrowing of the orifice by newly formed translucent membranes. Type-3 pattern is defined as the blockage of CSF flow due to newly formed reactive membranes in the basal cisterns, with an intact ventriculostomy orifice. RESULTS: The frequency of the ventriculostomy closure patterns was found as follows. Type-1: 17 cases (22.97%); Type-2: 30 cases (40.54%); and Type-3: 27 cases (36.48%). The success rate of the re-ETV procedure according to closure types was 23.52% in Type-1 cases, 46.66% in Type-2 cases, and 37.03% in Type-3 cases. A significantly higher rate of Type-1 closure pattern was observed in the myelomeningocele associated hydrocephalus cases (p < 0.01). CONCLUSION: In cases where ETV failure occurs, an endoscopic exploration with reopening of the ventriculostomy orifice is a preferable treatment option. Therefore, identifying patients who may benefit from the re-ETV procedure is essential. Type-1 closure pattern was observed to have a higher frequency in cases where hydrocephalus was associated with myelomeningocele, and the success rate of re-ETV seems to be lower in those cases.


Asunto(s)
Hidrocefalia , Meningomielocele , Tercer Ventrículo , Humanos , Ventriculostomía/métodos , Meningomielocele/cirugía , Tercer Ventrículo/cirugía , Estudios Retrospectivos , Hidrocefalia/cirugía
18.
Pediatr Neurol ; 144: 72-77, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37172460

RESUMEN

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolation. The MLC1 protein plays a role in astrocyte activation during neuroinflammation and regulates volume decrease following astrocyte osmotic swelling. Loss of MLC1 function activates interleukin (IL)-1ß-induced inflammatory signals. Theoretically, IL-1 antagonists (such as anakinra and canakinumab) can slow the progression of MLC. Herein, we present two boys from different families who had MLC due to biallelic MLC1 gene mutations and were treated with the anti-IL-1 drug anakinra. METHODS: Two boys from different families presented with megalencephaly and psychomotor retardation. Brain magnetic resonance imaging findings in both patients were compatible with the diagnosis of MLC. The diagnosis of MLC was confirmed via Sanger analysis of the MLC1 gene. Anakinra was administered to both patients. Volumetric brain studies and psychometric evaluations were performed before and after anakinra treatment. RESULTS: After anakinra therapy, brain volume in both patients decreased significantly and cognitive functions and social interactions improved. No adverse effects were observed during anakinra therapy. CONCLUSIONS: Anakinra or other IL-1 antagonists can be used to suppress disease activity in patients with MLC; however, the present findings need to be confirmed via additional research.


Asunto(s)
Proteína Antagonista del Receptor de Interleucina 1 , Megalencefalia , Proteínas de la Membrana , Receptores de Interleucina-1 , Humanos , Masculino , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Cognición , Proteína Antagonista del Receptor de Interleucina 1/farmacología , Megalencefalia/diagnóstico por imagen , Megalencefalia/tratamiento farmacológico , Megalencefalia/genética , Proteínas de la Membrana/genética , Mutación , Receptores de Interleucina-1/antagonistas & inhibidores
19.
Turk Neurosurg ; 33(5): 811-820, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37309627

RESUMEN

AIM: To demonstrated demyelination and remyelination of the optic nerve histologically by electron microscopy in an experimental model similar to the compression of pituitary adenomas on the optic chiasm. MATERIAL AND METHODS: The rats were fixed to a stereotaxic device under deep anesthesia, and a balloon catheter was placed under the optic chiasm through a burr hole which was in front of the bregma in accordance with the brain atlas of rats. The animals were divided into five groups (n=8): control, mild compression demyelination, severe compression demyelination, mild compression remyelination, severe compression remyelination. The fine structures of the tissues obtained were evaluated using electron microscopy. RESULTS: We found a significant difference in the severity of degeneration when comparing group 1 with group 5 (p < 0.001); there was no degeneration in group 1 rats and severe degeneration in all of the group 5 rats. Oligodendrocytes were found in all rats in group 1 and none of the rats in no group 2. The nuclei were preserved in the group 1 rats but damaged in all of the group 5 rats. There were no lymphocytes or erythrocytes in group 1 and all positives in group 5. CONCLUSION: This technique, which induced degeneration without causing damage to the optic nerve with toxic or chemical agents, revealed Wallerian degeneration similar to tumoral compression. After compression relief, the optic nerve remyelination process can be better understood, particularly for sellar lesions. In our opinion, this model may guide future experiments to identify protocols to induce and accelerate remyelination.


Asunto(s)
Enfermedades Desmielinizantes , Remielinización , Ratas , Animales , Quiasma Óptico/patología , Nervio Óptico/patología , Enfermedades Desmielinizantes/inducido químicamente , Enfermedades Desmielinizantes/patología , Modelos Teóricos
20.
Neuroradiol J ; 36(5): 533-540, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36891824

RESUMEN

BACKGROUND AND PURPOSE: Cystic pituitary adenomas and cystic craniopharyngiomas may mimic Rathke cleft cysts when there is no solid enhancing component on magnetic resonance imaging (MRI). This study aims to investigate the efficiency of MRI findings in differentiating Rathke cleft cysts from pure cystic pituitary adenoma and pure cystic craniopharyngioma. MATERIALS AND METHODS: 109 patients were included in this study (56 Rathke cleft cysts, 38 pituitary adenomas, and 15 craniopharyngiomas). Preoperative magnetic resonance images were evaluated using 9 imaging findings. These findings include intralesional fluid-fluid level, intralesional septations, midline /off-midline location, suprasellar extension, an intracystic nodule, a hypointense rim on T2-weighted images, ≥ 2 mm thickness of contrast-enhancing wall, T1 hyperintensity and T2 hypointensity. p < 0.01 was considered statistically significant. RESULTS: There was a statistically significant difference among groups for these 9 findings. Intracystic nodule and T2 hypointensity were the most specific MRI findings in differentiating Rathke cleft cyst from the others (98.1% and 100%, respectively). Intralesional septation and thick contrast-enhancing wall were the most sensitive MRI findings ruling out Rathke cleft cysts with 100% sensitivity. CONCLUSION: Rathke cleft cysts can be distinguished from pure cystic adenoma and craniopharyngioma with the presence of an intracystic nodule, T2 hypointensity, the absence of the thick contrast-enhancing wall, and absence of intralesional septations.

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