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1.
Stroke ; 55(3): 715-724, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38258570

RESUMEN

BACKGROUND: Moyamoya disease (MMD) is a rare and complex pathological condition characterized by an abnormal collateral circulation network in the basal brain. The diagnosis of MMD and its progression is unpredictable and influenced by many factors. MMD can affect the blood vessels supplying the eyes, resulting in a range of ocular symptoms. In this study, we developed a deep learning model using real-world data to assist a diagnosis and determine the stage of the disease using retinal photographs. METHODS: This retrospective observational study conducted from August 2006 to March 2022 included 498 retinal photographs from 78 patients with MMD and 3835 photographs from 1649 healthy participants. Photographs were preprocessed, and an ResNeXt50 model was developed. Model performance was measured using receiver operating curves and their area under the receiver operating characteristic curve, accuracy, sensitivity, and F1-score. Heatmaps and progressive erasing plus progressive restoration were performed to validate the faithfulness. RESULTS: Overall, 322 retinal photographs from 67 patients with MMD and 3752 retinal photographs from 1616 healthy participants were used to develop a screening and stage prediction model for MMD. The average age of the patients with MMD was 44.1 years, and the average follow-up time was 115 months. Stage 3 photographs were the most prevalent, followed by stages 4, 5, 2, 1, and 6 and healthy. The MMD screening model had an average area under the receiver operating characteristic curve of 94.6%, with 89.8% sensitivity and 90.4% specificity at the best cutoff point. MMD stage prediction models had an area under the receiver operating characteristic curve of 78% or higher, with stage 3 performing the best at 93.6%. Heatmap identified the vascular region of the fundus as important for prediction, and progressive erasing plus progressive restoration result shows an area under the receiver operating characteristic curve of 70% only with 50% of the important regions. CONCLUSIONS: This study demonstrated that retinal photographs could be used as potential biomarkers for screening and staging of MMD and the disease stage could be classified by a deep learning algorithm.


Asunto(s)
Aprendizaje Profundo , Enfermedad de Moyamoya , Humanos , Adulto , Enfermedad de Moyamoya/diagnóstico por imagen , Algoritmos , Curva ROC
2.
Clin Genet ; 106(2): 199-203, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38679877

RESUMEN

RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease-gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype-phenotype relationships in the MAP4K4-related disorder. This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM_001242559:c.569G>T, p.Gly190Val), revealed by trio exome sequencing, and located in the hotspot of the protein kinase domain. The patient exhibited various clinical features, including craniofacial dysmorphism, language delay, congenital heart defects, genitourinary anomalies, and sagittal craniosynostosis. Our study expands the phenotypic association of the MAP4K4-related disorder to include syndromic craniosynostosis, thereby providing further insights into the role of the RAS/MAPK pathways in the development of premature fusion of calvarial sutures.


Asunto(s)
Craneosinostosis , Estudios de Asociación Genética , Mutación Missense , Humanos , Mutación Missense/genética , Craneosinostosis/genética , Craneosinostosis/patología , Masculino , Fenotipo , Proteínas Serina-Treonina Quinasas/genética , Secuenciación del Exoma , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Síndrome , Predisposición Genética a la Enfermedad
3.
J Digit Imaging ; 36(1): 240-249, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35995899

RESUMEN

The 3D modeling of orbital bones in facial CT images is essential to provide a customized implant for reconstructions of orbit and related structures during surgery. However, 3D models of the orbital bone show an aliasing effect and disconnected thin bone in the inter-slice direction because the slice thickness is two to three times larger than the pixel spacing. To improve the inter-slice resolution of facial CT images, we propose a method based on a 2D convolutional neural network (CNN) that uses the spatial information on the sagittal and axial planes and the orbital bone edge-aware (OBE) loss. First, intermediate slices are generated on the sagittal plane. Second, the generated intermediate slices are transformed to an axial image, which is then compared with the original axial image. To generate intermediate slices with an accurate orbital bone structure, the OBE loss considering the orbital bone structure on the sagittal and axial planes is used. To improve the perceptual quality of the generated intermediate slices, the feature map difference loss is additionally used on the axial plane. In the experiment, the proposed method showed the best performance among bilinear and bicubic interpolations, 3D SRGAN, and a 2D CNN-based method. Experimental results confirmed that the proposed method can generate intermediate slices with clear edges of thin bones as well as cortical bones on both the sagittal and the axial plane.


Asunto(s)
Redes Neurales de la Computación , Tomografía Computarizada por Rayos X , Humanos , Tomografía Computarizada por Rayos X/métodos , Órbita , Cabeza
4.
Int J Nurs Pract ; 29(1): e13066, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35644528

RESUMEN

PURPOSE: To identify the risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease based on Antonovsky's salutogenesis theory. METHODS: This study used a qualitative descriptive design. We interviewed adolescents diagnosed with Moyamoya disease and their parents and experts with experience in treating them from 4 July 2019 to 10 October 2019. Data analysis was performed according to the process of deductive content analysis based on Antonovsky's salutogenesis theory. RESULTS: This study identified risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease. Risk factors were closely related to problems with friends, parent relationships and academic work. Protective factors were identified as emotional support through interpersonal relationships, positive attitudes to the disease situation, ability to understand and predict patterns of symptoms, increasing strength to resolve the state of tension and developing available resources. CONCLUSION: The factors affecting a salutogenic sense of health in adolescents were identified reflecting on the characteristics of the developmental stage of adolescents and the symptoms and situations that are unique to adolescents. It is important for adolescents with Moyamoya disease to recognize available resources and use them appropriately to successfully manage the state of tension caused by stress.


Asunto(s)
Enfermedad de Moyamoya , Sentido de Coherencia , Humanos , Adolescente , Factores Protectores , Relaciones Interpersonales
5.
Mol Psychiatry ; 26(12): 7538-7549, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34253863

RESUMEN

Heterogeneity in the etiopathology of autism spectrum disorders (ASD) limits the development of generic remedies, requires individualistic and patient-specific research. Recent progress in human-induced pluripotent stem cell (iPSC) technology provides a novel platform for modeling ASDs for studying complex neuronal phenotypes. In this study, we generated telencephalic induced neuronal (iN) cells from iPSCs derived from an ASD patient with a heterozygous point mutation in the DSCAM gene. The mRNA of DSCAM and the density of DSCAM in dendrites were significantly decreased in ASD compared to control iN cells. RNA sequencing analysis revealed that several synaptic function-related genes including NMDA receptor subunits were downregulated in ASD iN cells. Moreover, NMDA receptor (R)-mediated currents were significantly reduced in ASD compared to control iN cells. Normal NMDA-R-mediated current levels were rescued by expressing wild-type DSCAM in ASD iN cells, and reduced currents were observed by truncated DSCAM expression in control iN cells. shRNA-mediated DSCAM knockdown in control iN cells resulted in the downregulation of an NMDA-R subunit, which was rescued by the overexpression of shRNA-resistant DSCAM. Furthermore, DSCAM was co-localized with NMDA-R components in the dendritic spines of iN cells whereas their co-localizations were significantly reduced in ASD iN cells. Levels of phospho-ERK1/2 were significantly lower in ASD iN cells, suggesting a potential mechanism. A neural stem cell-specific Dscam heterozygous knockout mouse model, showing deficits in social interaction and social memory with reduced NMDA-R currents. These data suggest that DSCAM mutation causes pathological symptoms of ASD by dysregulating NMDA-R function.


Asunto(s)
Trastorno del Espectro Autista , Moléculas de Adhesión Celular/genética , Receptores de N-Metil-D-Aspartato , Animales , Trastorno del Espectro Autista/metabolismo , Humanos , Ratones , Ratones Noqueados , Mutación/genética , Neuronas/metabolismo , Receptores de N-Metil-D-Aspartato/genética , Receptores de N-Metil-D-Aspartato/metabolismo
6.
Neuroradiology ; 64(9): 1737-1745, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35237848

RESUMEN

PURPOSE: Multiple burr hole surgery is considered to be an option for achieving indirect revascularization in patients with ischemic Moyamoya disease (MMD). We aimed to investigate the efficacy of stand-alone multiple burr hole surgery for salvage revascularization in patients with MMD by assessing the hemodynamic changes via normalized time-to-peak (nTTP) analysis and independent component analysis (ICA) of preoperative and postoperative dynamic susceptibility contrast (DSC) perfusion MRI data. METHODS: The DSC perfusion MRI data of 25 hemispheres from 21 patients with MMD, who underwent multiple burr hole surgery for salvage revascularization due to persistent or recurrent symptoms after primary revascularization with modified encephaloduroarteriosynangiosis (mEDAS), were analyzed. The nTTP, which was measured using the region of interests covering the entire surgical hemisphere, was compared between the preoperative and postoperative images. ICA was used to compare the relative arterial and venous components of the surgical hemispheres between the respective preoperative and postoperative images. RESULTS: The median postoperative nTTP (1.80 s) was significantly shorter than the median preoperative nTTP (4.10 s) (P < 0.001). The postoperative relative arterial component of the surgical hemisphere (median: 0.04) was significantly higher than the preoperative relative arterial component (median: - 0.02, P < 0.001). In contrast, the postoperative relative venous component of the surgical hemisphere (median: - 0.05) was significantly lower than the preoperative value (median: 0.05, P < 0.001). CONCLUSION: The improvement in cerebral perfusion parameters observed on postoperative DSC perfusion MRI demonstrated that stand-alone multiple burr hole surgery could be a favorable salvage revascularization technique after mEDAS failure in patients with ischemic MMD.


Asunto(s)
Revascularización Cerebral , Enfermedad de Moyamoya , Revascularización Cerebral/métodos , Humanos , Imagen por Resonancia Magnética/métodos , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/cirugía , Perfusión
7.
Childs Nerv Syst ; 37(7): 2233-2238, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33755793

RESUMEN

OBJECTIVE: To investigate the feasibility and clinical effectiveness of performing multiple burr hole surgery in pediatric moyamoya patients as a response to failed modified encephaloduroarteriosynangiosis (mEDAS). METHODS: From January 2014 to May 2018, multiple burr hole surgery (MBS) was conducted on 16 hemispheres in 12 patients as a secondary treatment following mEDAS. The male-to-female ratio was 1:2 and the average age at the time of mEDAS was 6 years old. The average patient age was 9 ± 3 years olds (range 7-17) at the time of MBS which occurred an average of 46 months after mEDAS. An average of 10 ± 1 holes (range 8-13) were made. Time-to-peak (TTP) magnetic resonance images (MRI) were taken along 20 axial cuts. Of these cuts, two consecutive cuts on the lateral ventricle were selected to calculate the average value of the region of interest (ROI). The value of the cerebellum was subtracted from the average value of two consecutive cuts. The ROI value was analyzed using a paired t test by SPSS 20 (SPSS Inc., Chicago, IL, USA). RESULTS: All 16 cases presented improvement of clinical symptoms as determined by ROI analysis of the TTP MRI images. The average ROI value was 5.03 ± 6.36 before MBS and - 15.54 ± 9.42 after MBS. The average change in the ROI value was - 20.58 ± 12.59. The ROI value decreased in all cases after MBS. Magnetic resonance angiography (MRA) also showed a positive effect on vascularization. CONCLUSION: In pediatric moyamoya patients, MBS is recommended as secondary option as a response to failed mEDAS. Its clinical effectiveness was shown by analyzing TTP images and assisted by MRA and digital subtraction angiography.


Asunto(s)
Revascularización Cerebral , Enfermedad de Moyamoya , Angiografía de Substracción Digital , Niño , Estudios de Factibilidad , Femenino , Humanos , Lactante , Masculino , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/cirugía , Trepanación
8.
J Adv Nurs ; 77(5): 2319-2327, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33426712

RESUMEN

AIMS: The purpose of this study is to explore the symptoms experienced by adolescents with moyamoya disease and to identify the characteristics of each symptom cluster associated with moyamoya disease. DESIGN: A retrospective and descriptive design, which is a secondary data analysis study based on electronic medical record data from hospitals. METHODS: To assess the symptoms associated with moyamoya disease, a qualitative study was conducted on 12 adolescents, 12 caregivers and 12 experts on moyamoya disease. According to a qualitative study, 12 main symptoms (limb weakness, numbness, pins and needles, difficulty in speech, blurred vision, facial paralysis, hand tremors, involuntary movements, convulsions, dizziness, nausea/vomiting and headaches) were selected. Data were collected around these symptoms. The data collection was carried out through the Electronic Medical Record (EMR) data of 303 adolescents aged 13-19 who were diagnosed with moyamoya disease (ICD 10 Code: I67.5) between January 2010-December 2019 in a hospital in Seoul, South Korea. Cluster analysis was applied to identify symptom clusters with the hierarchical cluster agglomerative approach. We used the log-likelihood distance to measure the similarity of variables. Proximity between groups of variables was measured using the two-step method. RESULTS: The physical symptoms experienced by adolescents with moyamoya disease were 'limb weakness' - the most common - followed by a 'headache,' 'difficulty in speech,' and 'nausea/vomiting.' A total of five symptom clusters were derived: cluster 1 was characterized by 'limb weakness'; cluster 2 participants were asymptomatic or experienced 'convulsions'; cluster 3 experienced 'difficulty in speech' and 'facial paralysis'; cluster 4 is prone to 'dizziness' and 'pins and needles'; and cluster 5 displays 'headaches' and 'nausea/vomiting'. CONCLUSION: This study offers a multidimensional approach for identifying differences in clinical symptoms of moyamoya disease among adolescents. IMPACT: These results will help provide interventions concerning the characteristics of the symptoms of moyamoya disease among adolescents.


Asunto(s)
Enfermedad de Moyamoya , Adolescente , Análisis por Conglomerados , Humanos , Enfermedad de Moyamoya/epidemiología , Náusea , República de Corea , Estudios Retrospectivos
9.
Childs Nerv Syst ; 36(9): 1967-1969, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32700038

RESUMEN

PURPOSE: To provide the insight for postoperative hypotonia. Selective posterior rhizotomy (SPR) has been proved as a powerful tool for reducing spasticity. And also, its functional benefit and long-term effect are also well-known. RESULTS: The most considered side effect of this procedure is postoperative hypotonia. However, some extent of temporary postoperative hypotonia can be the marker of the long-term success of this procedure. While the return of spasticity is the most unwanted side effect, some kind of overfitting, temporary postoperative hypotonia, can be the solution for that. CONCLUSION: For severely deformed patients, postoperative hypotonia may not be problematic, because severe spasticity makes them deformed and disabled. Deformed body will not show a definite disability from postoperative hypotonia.


Asunto(s)
Parálisis Cerebral , Hipotonía Muscular , Parálisis Cerebral/cirugía , Humanos , Hipotonía Muscular/etiología , Espasticidad Muscular/cirugía , Periodo Posoperatorio , Rizotomía
10.
Nurs Health Sci ; 22(3): 795-802, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32336006

RESUMEN

Moyamoya disease in adults is a chronic, progressive disorder characterized by fine collateral vessel networks in the brain. The disorder can lead to negative mood and stress, which, left unresolved, may increase adverse health outcomes. We conducted a cross-sectional survey to examine stress and mood of adults with moyamoya disease. Participants were recruited at a university hospital in Seoul, Korea. Data were collected through questionnaires and review of participants' electronic medical records. A total of 109 adults participated. Significant correlations were found between perceived stress, anxiety, and depression. Adults with moyamoya disease experience anxiety, depression, and stress related to the risk of cerebral hemorrhage or ischemia, similar to those with other cerebrovascular disease. If negative mood and stress were uncontrolled, those can cuase adverse health outcomes. Health professionals caring for people with moyamoya disease should carefully observe their stress and mood and develop interventions tailored to stages of disease to help them manage. The study results provide baseline information for understanding the level of, and the factors associated with, stress and mood.


Asunto(s)
Trastornos del Humor/clasificación , Enfermedad de Moyamoya/complicaciones , Calidad de Vida/psicología , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Humor/etiología , Trastornos del Humor/psicología , Enfermedad de Moyamoya/psicología , Psicometría/instrumentación , Psicometría/métodos , República de Corea
11.
J Neurosci ; 38(22): 5042-5052, 2018 05 30.
Artículo en Inglés | MEDLINE | ID: mdl-29712785

RESUMEN

The molecular mechanism of long-term memory has been extensively studied in the context of the hippocampus-dependent recent memory examined within several days. However, months-old remote memory maintained in the cortex for long-term has not been investigated much at the molecular level yet. Various epigenetic mechanisms are known to be important for long-term memory, but how the 3D chromatin architecture and its regulator molecules contribute to neuronal plasticity and systems consolidation is still largely unknown. CCCTC-binding factor (CTCF) is an 11-zinc finger protein well known for its role as a genome architecture molecule. Male conditional knock-out mice in which CTCF is lost in excitatory neurons during adulthood showed normal recent memory in the contextual fear conditioning and spatial water maze tasks. However, they showed remarkable impairments in remote memory in both tasks. Underlying the remote memory-specific phenotypes, we observed that female CTCF conditional knock-out mice exhibit disrupted cortical LTP, but not hippocampal LTP. Similarly, we observed that CTCF deletion in inhibitory neurons caused partial impairment of remote memory. Through RNA sequencing, we observed that CTCF knockdown in cortical neuron culture caused altered expression of genes that are highly involved in cell adhesion, synaptic plasticity, and memory. These results suggest that remote memory storage in the cortex requires CTCF-mediated gene regulation in neurons, whereas recent memory formation in the hippocampus does not.SIGNIFICANCE STATEMENT CCCTC-binding factor (CTCF) is a well-known 3D genome architectural protein that regulates gene expression. Here, we use two different CTCF conditional knock-out mouse lines and reveal, for the first time, that CTCF is critically involved in the regulation of remote memory. We also show that CTCF is necessary for appropriate expression of genes, many of which we found to be involved in the learning- and memory-related processes. Our study provides behavioral and physiological evidence for the involvement of CTCF-mediated gene regulation in the remote long-term memory and elucidates our understanding of systems consolidation mechanisms.


Asunto(s)
Factor de Unión a CCCTC/fisiología , Corteza Cerebral/fisiología , Memoria/fisiología , Plasticidad Neuronal/fisiología , Animales , Adhesión Celular/fisiología , Condicionamiento Clásico , Potenciales Postsinápticos Excitadores/genética , Potenciales Postsinápticos Excitadores/fisiología , Miedo , Regulación de la Expresión Génica , Potenciación a Largo Plazo/fisiología , Masculino , Aprendizaje por Laberinto , Ratones , Ratones Noqueados , Percepción Espacial/fisiología
12.
Acta Neuropathol ; 138(6): 901-912, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31377847

RESUMEN

Low-level somatic mutations have been shown to be the major genetic etiology of intractable epilepsy. The extents thereof, however, have yet to be systematically and accurately explored in a large cohort of resected epilepsy brain tissues. Moreover, clinically useful and precise analysis tools for detecting low-level somatic mutations from unmatched formalin-fixed paraffin-embedded (FFPE) brain samples, the most clinically relevant samples, are still lacking. In total, 446 tissues samples from 232 intractable epilepsy patients with various brain pathologies were analyzed using deep sequencing (average read depth, 1112x) of known epilepsy-related genes (up to 28 genes) followed by confirmatory site-specific amplicon sequencing. Pathogenic mutations were discovered in 31.9% (74 of 232) of the resected epilepsy brain tissues and were recurrently found in only eight major focal epilepsy genes, including AKT3, DEPDC5, MTOR, PIK3CA, TSC1, TSC2, SCL35A2, and BRAF. Somatic mutations, two-hit mutations, and germline mutations accounted for 22.0% (51), 0.9% (2), and 9.1% (21) of the patients with intractable epilepsy, respectively. The majority of pathogenic somatic mutations (62.3%, 33 of 53) had a low variant allelic frequency of less than 5%. The use of deep sequencing replicates in the eight major focal epilepsy genes robustly increased PPVs to 50-100% and sensitivities to 71-100%. In an independent FCDII cohort of only unmatched FFPE brain tissues, deep sequencing replicates in the eight major focal epilepsy genes identified pathogenic somatic mutations in 33.3% (5 of 15) of FCDII individuals (similar to the genetic detecting rate in the entire FCDII cohort) without any false-positive calls. Deep sequencing replicates of major focal epilepsy genes in unmatched FFPE brain tissues can be used to accurately and efficiently detect low-level somatic mutations, thereby improving overall patient care by enriching genetic counseling and informing treatment decisions.


Asunto(s)
Encéfalo , Epilepsia Refractaria/genética , Mutación , Análisis de Secuencia/métodos , Adolescente , Encéfalo/metabolismo , Encéfalo/patología , Encéfalo/cirugía , Niño , Preescolar , Estudios de Cohortes , Epilepsia Refractaria/metabolismo , Epilepsia Refractaria/patología , Epilepsia Refractaria/cirugía , Femenino , Humanos , Lactante , Masculino , Adulto Joven
14.
Acta Neuropathol ; 135(6): 939-953, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29644394

RESUMEN

Despite great advances in understanding of molecular pathogenesis and achievement of a high cure rate in medulloblastoma, recurrent medulloblastomas are still dismal. Additionally, misidentification of secondary malignancies due to histological ambiguity leads to misdiagnosis and eventually to inappropriate treatment. Nevertheless, the genomic characteristics of recurrent medulloblastomas are poorly understood, largely due to a lack of matched primary and recurrent tumor tissues. We performed a genomic analysis of recurrent tumors from 17 pediatric medulloblastoma patients. Whole transcriptome sequencing revealed that a subset of recurrent tumors initially diagnosed as locally recurrent medulloblastomas are secondary glioblastomas after radiotherapy, showing high similarity to the non-G-CIMP proneural subtype of glioblastoma. Further analysis, including whole exome sequencing, revealed missense mutations or complex gene fusion events in PDGFRA with augmented expression in the secondary glioblastomas after radiotherapy, implicating PDGFRA as a putative driver in the development of secondary glioblastomas after treatment exposure. This result provides insight into the possible application of PDGFRA-targeted therapy in these second malignancies. Furthermore, genomic alterations of TP53 including 17p loss or germline/somatic mutations were also found in most of the secondary glioblastomas after radiotherapy, indicating a crucial role of TP53 alteration in the process. On the other hand, analysis of recurrent medulloblastomas revealed that the most prevalent alterations are the loss of 17p region including TP53 and gain of 7q region containing EZH2 which already exist in primary tumors. The 7q gain events are frequently accompanied by high expression levels of EZH2 in both primary and recurrent medulloblastomas, which provides a clue to a new therapeutic target to prevent recurrence. Considering the fact that it is often challenging to differentiate between recurrent medulloblastomas and secondary glioblastomas after radiotherapy, our findings have major clinical implications both for correct diagnosis and for potential therapeutic interventions in these devastating diseases.


Asunto(s)
Neoplasias Encefálicas/genética , Neoplasias Encefálicas/radioterapia , Glioblastoma/genética , Meduloblastoma/radioterapia , Recurrencia Local de Neoplasia/genética , Neoplasias Primarias Secundarias/genética , Adolescente , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patología , Niño , Preescolar , Proteína Potenciadora del Homólogo Zeste 2/genética , Femenino , Fusión Génica , Glioblastoma/diagnóstico , Humanos , Lactante , Masculino , Meduloblastoma/genética , Meduloblastoma/patología , Mutación Missense , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias Primarias Secundarias/diagnóstico , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/genética , Proteína p53 Supresora de Tumor/genética , Secuenciación del Exoma
15.
Epilepsia ; 59(12): 2249-2259, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30370541

RESUMEN

OBJECTIVE: With the recognition of epilepsy as a network disease that disrupts the organizing ability of resting-state brain networks, vagus nerve stimulation (VNS) may control epileptic seizures through modulation of functional connectivity. We evaluated preoperative 2-deoxy-2[18 F]fluoro-D-glucose (FDG) positron emission tomography (PET) in VNS-implanted pediatric patients with refractory epilepsy to analyze the metabolic connectivity of patients and its prognostic role in seizure control. METHODS: Preoperative PET data of 66 VNS pediatric patients who were followed up for a minimum of 1 year after the procedure were collected for the study. Retrospective review of the patients' charts was performed, and five patients with inappropriate PET data or major health issues were excluded. We conducted an independent component analysis of FDG-PET to extract spatial metabolic components and their activities, which were used to perform cross-sectional metabolic network analysis. We divided the patients into VNS-effective and VNS-ineffective groups (VNS-effective group, ≥50% seizure reduction; VNS-ineffective group, <50% reduction) and compared metabolic connectivity differences between groups using a permutation test. RESULTS: Thirty-four (55.7%) patients showed >50% seizure reduction from baseline frequency 1 year after VNS. A significant difference in metabolic connectivity evaluated by preoperative FDG-PET was noted between groups. Relative changes in glucose metabolism were strongly connected among the areas of brainstem, cingulate gyrus, cerebellum, bilateral insula, and putamen in patients with <50% seizure control after VNS. SIGNIFICANCE: This study shows that seizure outcome of VNS may be influenced by metabolic connectivity, which can be obtained from preoperative PET imaging. This study of metabolic connectivity analysis may contribute in further understanding of the mechanism of VNS in intractable seizures.


Asunto(s)
Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/terapia , Estimulación del Nervio Vago , Adolescente , Adulto , Química Encefálica , Niño , Estudios Transversales , Epilepsia Refractaria/metabolismo , Femenino , Fluorodesoxiglucosa F18 , Glucosa/metabolismo , Humanos , Masculino , Redes y Vías Metabólicas , Tomografía de Emisión de Positrones , Pronóstico , Radiofármacos , Estudios Retrospectivos , Convulsiones/prevención & control , Resultado del Tratamiento , Adulto Joven
16.
Int J Med Sci ; 15(8): 788-795, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30008588

RESUMEN

Background: Distraction osteogenesis for craniosynostosis is associated with significant hemorrhage. Additionally, patients usually require several transfusions. Tranexamic acid (TXA) is effective for reducing blood loss and the need for transfusions during surgeries. However, the significance of TXA infusion has not been thoroughly described yet. Methods: Forty-eight children undergoing distraction osteogenesis for craniosynostosis were administered intraoperative TXA infusion (loading dose of 10 mg/kg for 15 min, followed by continuous infusion at 5 mg/kg/h throughout surgery; n = 23) or normal saline (control, n = 25). Rotational thromboelastometry (ROTEMTM) was conducted to monitor changes in coagulation perioperatively. Results: Blood loss during surgery was significantly lower in the TXA-treated group than it was in the control group (81 vs. 116 mL/kg, P = 0.003). Furthermore, significantly fewer transfusions of red blood cells and fresh frozen plasma were required in the TXA group. In the control group, clotting time during the postoperative period was longer than it was during the preoperative period. Similarly, clot strength was weaker during the postoperative period. D-dimer levels dramatically increased in the control group compared with the TXA group after surgery. The duration of mechanical ventilation and the number of postoperative respiratory-related complications were significantly greater in the control group than they were in the TXA group. Conclusions: TXA infusion based on population pharmacokinetic analysis is effective in reducing blood loss and the need for transfusions during the surgical treatment of craniosynostosis. It can also prevent the increase in D-dimer levels without affecting systemic hemostasis.


Asunto(s)
Antifibrinolíticos/uso terapéutico , Pérdida de Sangre Quirúrgica/prevención & control , Osteogénesis por Distracción , Tromboelastografía , Ácido Tranexámico/uso terapéutico , Antifibrinolíticos/farmacocinética , Transfusión Sanguínea , Niño , Craneosinostosis , Femenino , Humanos , Lactante , Masculino , República de Corea , Ácido Tranexámico/farmacocinética , Resultado del Tratamiento
17.
Childs Nerv Syst ; 34(6): 1199-1206, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29679197

RESUMEN

PURPOSE: Moyamoya disease (MMD) commonly leads to neurocognitive impairment. This study was carried out to show that temporal encephaloduroarteriosynangiosis (EDAS) has a positive neuropsychological impact on pediatric MMD patients. METHODS: Fifty-five participants diagnosed with MMD from 2008 to 2014 were included in this retrospective study. The mean age at the preoperative evaluation was 9.5 years and the mean age at postoperative evaluation was 10.4. The average interval of initial and follow-up test was 10 months. K-WISC-III, Rey-Kim memory test, Children's Color Trails test (CCTT), Wisconsin Card Sorting Test (WCST), and Advanced Test of Attention (ATA) were used to evaluate patient's neurocognitive profile. RESULTS: In this study, preoperative and postoperative neuropsychological fields were compared. Prior operation, pediatric MMD patients showed 54.2% deficit of inattention but only around 2.5% deficit in verbal memory recall function. There was a significant increase of performance IQ and PO score component of PIQ improved almost 10 scores after surgery. For memorial function, there was an improvement of approximately 10 scores in MQ after the surgery. This study also showed parietal activation following surgical treatment which enhanced the ability to interpret visual materials, to register and to retrieve visual information. Interestingly, despite the parietal cover surgery, there was a significant improvement of performance on WCST and CCTT measuring the prefrontal executive function. Concerning failure to maintain set, no significant postoperative improvements were made. However, simple and selective visual attention on ATA was significantly improved postoperatively. CONCLUSIONS: The results from neuropsychological field comparison testifies the effectiveness of temporal EDAS in pediatric MMD patients. The surgery not only enhances the blood flow in operative regions, but it also improves the broad cerebral function including frontoparietal domains. Such alteration leads to overall advancement in cognitive function which are impaired due to MMD.


Asunto(s)
Revascularización Cerebral/métodos , Enfermedad de Moyamoya/psicología , Enfermedad de Moyamoya/cirugía , Adolescente , Niño , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Estudios Retrospectivos , Resultado del Tratamiento
18.
Pediatr Neurosurg ; 53(1): 18-23, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29073589

RESUMEN

BACKGROUND: Cranial surgical site infection is a significant cause of morbidity and mortality in hospitals. Preoperative hair shaving for cranial neurosurgical procedures is performed traditionally in an attempt to protect patients against complications from infections at cranial surgical sites. However, preoperative shaving of surgical incision sites using traditional surgical blades without properly washing the head after surgery can cause infections at surgical sites. Therefore, a rapid protocol in which the scalp remains unshaven and absorbable sutures are used for scalp closure with early postoperative shampooing is examined in this study. METHODS: A retrospective comparative study was conducted from January 2008 to December 2012. A total of 2,641 patients who underwent unshaven cranial surgery with absorbable sutures for scalp closure were enrolled in this study. Data of 1,882 patients who underwent surgery with the traditional protocol from January 2005 to December 2007 were also analyzed for comparison. RESULTS: Of 2,641 patients who underwent cranial surgery with the rapid protocol, all but 2 (0.07%) patients experienced satisfactory wound healing. Of 1,882 patients who underwent cranial surgery with the traditional protocol, 3 patients (0.15%) had infections. Each infection occurred at the superficial incisional surgical site. CONCLUSION: Unshaven cranial surgery using absorbable sutures for scalp closure with early postoperative shampooing is safe and effective in the cranial neurosurgery setting. This protocol has a positive psychological effect. It can help patients accept neurosurgical procedures and improve their self-image after the operation.


Asunto(s)
Preparaciones para el Cabello/administración & dosificación , Cabello , Procedimientos Neuroquirúrgicos/métodos , Cuidados Posoperatorios/métodos , Infección de la Herida Quirúrgica/prevención & control , Técnicas de Sutura , Profilaxis Antibiótica/métodos , Profilaxis Antibiótica/tendencias , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos/tendencias , Cuidados Posoperatorios/tendencias , Estudios Retrospectivos , Cráneo/cirugía , Infección de la Herida Quirúrgica/diagnóstico , Técnicas de Sutura/tendencias , Factores de Tiempo , Adulto Joven
19.
Neurol Neurochir Pol ; 52(1): 29-34, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29103634

RESUMEN

Normal pressure hydrocephalus (NPH) is a chronic disorder caused by interrupted CSF absorption or flow. Generally, shunt placement is first option for NPH treatment. Due to complications of ventriculo-peritoneal (VP) shunt placement, endoscopic third ventriculostomy (ETV) can be considered as an alternative treatment option. Here we report the efficacy of ETV especially in old aged patients with normal pressure hydrocephalus. Total 21 old aged patients with communicating hydrocephalus with opening pressure, measured via lumbar puncture, less than 20cm H2O underwent ETV. 15 patients had primary/idiopathic NPH and 6 patients had secondary NPH. All patients were studied with a MRI to observe the flow void at aqueduct and the fourth ventricle outflow. And all of them underwent ETV. In a group with peak velocity was higher than 5cm/s, nine patients (75%) were evaluated was 'favorable' and three of them (25%) was scored 'poor'. In another group with peak velocity less than 5cm/s, three of them were scored 'poor' and two of them were scored 'stable'. None of them was evaluated as 'favorable'. We also evaluated the outcomes according to etiology: 12 patients (80% of the patients with primary NPH) were evaluated with 'favorable' after ETV treatment. Two patients (13.3%) were as 'stable'. And one patient was as 'poor' evaluated. Five patients (83.3%) among patients with secondary NPH were as 'poor' evaluated and one of them was stable and no patient was as 'favorable' evaluated. 4 patients, which was as 'poor' evaluated in the group with the secondary NPH, underwent additional VP shunt implantation. Overall, the outcomes of the group with the idiopathic NPH after ETV treatment were more favorable than of the group with the secondary NPH. Our study suggest that ETV can be effective for selected elderly patients with primary/idiopathic NPH, when they satisfy criteria including positive aqueduct flow void on T2 Sagittal MRI and the aqueductal peak velocity, which is greater than 5cm/s on cine MRI.


Asunto(s)
Hidrocéfalo Normotenso , Hidrocefalia , Neuroendoscopía , Tercer Ventrículo , Ventrículos Cerebrales , Humanos , Resultado del Tratamiento , Derivación Ventriculoperitoneal , Ventriculostomía
20.
Childs Nerv Syst ; 33(9): 1553-1562, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28623521

RESUMEN

PURPOSE: Cranioplasty for recovering skull defects carries the risk for a number of complications. Various materials are used, including autologous bone graft, metallic materials, and non-metallic materials, each of which has advantages and disadvantages. If the use of autologous bone is not feasible, those artificial materials also have constraints in the case of complex anatomy and/or irregular defects. MATERIAL AND METHODS: This study used metal 3D-printing technology to overcome these existing drawbacks and analyze the clinical and mechanical performance requirements. To find an optimal structure that satisfied the structural and mechanical stability requirements, we evaluated biomechanical stability using finite element analysis (FEA) and mechanical testing. To ensure clinical applicability, the model was subjected to histological evaluation. Each specimen was implanted in the femur of a rabbit and was evaluated using histological measurements and push-out test. RESULTS AND CONCLUSION: We believe that our data will provide the basis for future applications of a variety of unit structures and further clinical trials and research, as well as the direction for the study of other patient-specific implants.


Asunto(s)
Impresión Tridimensional , Cráneo , Ingeniería de Tejidos , Andamios del Tejido , Animales , Fenómenos Biomecánicos , Análisis de Elementos Finitos , Humanos , Prótesis e Implantes , Conejos , Procedimientos de Cirugía Plástica
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