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AIM: Medulloblastomas (MBs) are the most commonly observed malignant brain tumors affecting children; they can be classified into molecular subgroups based on the 2016 and 2021 WHO classifications, as WNT-activated, SHH-activated and TP53-wild type, SHH-activated and TP53-mutant, and non-WNT/non-SHH. However, the molecular methods to determine these subgroups are not easily accessible for routine testing as they are expensive. Here, we investigated the efficacy of immunohistochemical methods to determine molecular subgroups and prognostic predictions of MB. MATERIAL AND METHODS: ß-catenin, GAB1, YAP1, filamin A and p53 were immunohistochemically stained, and MYC and MYCN fluorescent in situ hybridization (FISH) procedures were applied to 218 cases in our series. RESULTS: Based on the histomorphological characteristics of the cases, 67.9% were deemed classic MB; 15.6% as desmoplastic/nodular medulloblastoma (DNMB); 12.8% as large cell/anaplastic (LC/A) MB; 3.7% as medulloblastoma with extensive nodularity (MBEN). Molecular characteristics revealed that 50.5% had non-WNT/non-SHH; 33.9% had SHH-activated and TP53-wildtype; 8.7% had WNT-activated; 6.9% had SHH-activated and TP53-mutant. According to the survival curves, LC/A MBs or non-WNT/non-SHH tumors showed the worst prognosis, whereas DNMBs and WNT-activated tumors showed the best prognosis. Classic MBs or SHH-activated tumors showed a moderate course. MYCN amplification was found to act as an independent poor prognostic factor in the study. CONCLUSION: The distribution of histological subtypes and molecular subgroups, amplification rates, and prognostic data obtained through immunohistochemical methods in our study were consistent with those reported in the literature. It was therefore hypothesized that the determination of molecular subgroups by immunohistochemical methods can be useful in daily diagnostic practice, especially in centers with limited access to molecular techniques.
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Objective: Coprolalia is defined as the involuntary use of obscene, socially unacceptable, and derogatory words. Ictal coprolalia is a rare presentation of epilepsy. This study aimed to determine the localizing and lateralizing value and frequency of ictal coprolalia in epilepsy patients. Methods: Medical files, discharge summaries, and electroencephalography (EEG) reports of 2238 patients were reviewed retrospectively. We identified patients who suffered from ictal coprolalia. Electroencephalography reports, neuroimaging [brain magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG-PET), single-photon emission computerized tomography (SPECT)] records, F-18 FDG fused on MRI images, and ictal SPECT fused on MRI images were evaluated. Also, original and review articles were identified through a systematic search of Pubmed, Scopus, and Clarivate Analytics. Results: Ictal coprolalia was detected in 3 male (0.15%) patients. In all patients, ictal semiology was extratemporal-frontal type, and potential/proven epileptic focus was non-dominant hemisphere frontal lobe. Topectomy was done in one of the patients, including the suspected dysplastic area plus the area where the electroencephalographic ictal and interictal changes occur, on the left frontal lobe, and the patient had an Engel's classification class IIA. The data depending on the published cases showed that ictal coprolalia was dominant in the male gender and the responsible epileptic area tended to be located in the non-dominant hemisphere frontotemporal region. Conclusion: The rate of ictal coprolalia in the Turkish population is lower compared to other series. Our results are consistent with previous studies in which reported that male preponderance for ictal coprolalia and involvement of non-dominant frontal lobe.
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OBJECTIVE: The aim of the study is to evaluate predictors of clinically important neuroimaging results, that is, computed tomography and magnetic resonance imaging in children in an academic pediatric emergency department (PED) from 2015 to 2019. METHODS: This study was conducted in an academic PED. The patient's demographic and clinical characteristics of PED visits and neuroimaging findings requested at the PED were recorded for January 1, 2015, to December 31, 2019. In addition, descriptive statistics and logistic regression analyses were conducted. We described and determined the predictors of clinically important neuroimaging findings in children. RESULTS: Clinically important neuroimaging findings were detected in patients with blurred vision ( P = 0.001), ataxia ( P = 0.003), unilateral weakness ( P = 0.004), and altered level of consciousness ( P = 0.026). Clinically important neuroimaging was found 9.4 times higher in patients with altered level of consciousness, 7.4 times higher in patients with focal weakness, 4.6 times higher in patients with blurred vision, and 3.5 times more in patients presenting with ataxia. CONCLUSIONS: Advanced neuroimaging, especially for selected patients in PED, can improve the quality of health care for patients. On the other hand, irrelevant neuroimaging findings can lead physicians away from prompt diagnosis and accurate management. According to our study, advanced neuroimaging can be performed in the early period for both diagnosis and early treatment, especially in selected patients with ataxia, blurred vision, altered consciousness, and unilateral weakness. In other cases, clinicians may find more supporting evidence.
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Servicio de Urgencia en Hospital , Imagen por Resonancia Magnética , Neuroimagen , Tomografía Computarizada por Rayos X , Humanos , Masculino , Femenino , Niño , Neuroimagen/métodos , Preescolar , Adolescente , Lactante , Estudios Retrospectivos , AtaxiaRESUMEN
Magnetic resonance imaging (MRI) is an essential diagnostic tool that suffers from prolonged scan times. Reconstruction methods can alleviate this limitation by recovering clinically usable images from accelerated acquisitions. In particular, learning-based methods promise performance leaps by employing deep neural networks as data-driven priors. A powerful approach uses scan-specific (SS) priors that leverage information regarding the underlying physical signal model for reconstruction. SS priors are learned on each individual test scan without the need for a training dataset, albeit they suffer from computationally burdening inference with nonlinear networks. An alternative approach uses scan-general (SG) priors that instead leverage information regarding the latent features of MRI images for reconstruction. SG priors are frozen at test time for efficiency, albeit they require learning from a large training dataset. Here, we introduce a novel parallel-stream fusion model (PSFNet) that synergistically fuses SS and SG priors for performant MRI reconstruction in low-data regimes, while maintaining competitive inference times to SG methods. PSFNet implements its SG prior based on a nonlinear network, yet it forms its SS prior based on a linear network to maintain efficiency. A pervasive framework for combining multiple priors in MRI reconstruction is algorithmic unrolling that uses serially alternated projections, causing error propagation under low-data regimes. To alleviate error propagation, PSFNet combines its SS and SG priors via a novel parallel-stream architecture with learnable fusion parameters. Demonstrations are performed on multi-coil brain MRI for varying amounts of training data. PSFNet outperforms SG methods in low-data regimes, and surpasses SS methods with few tens of training samples. On average across tasks, PSFNet achieves 3.1 dB higher PSNR, 2.8% higher SSIM, and 0.3 × lower RMSE than baselines. Furthermore, in both supervised and unsupervised setups, PSFNet requires an order of magnitude lower samples compared to SG methods, and enables an order of magnitude faster inference compared to SS methods. Thus, the proposed model improves deep MRI reconstruction with elevated learning and computational efficiency.
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Procesamiento de Imagen Asistido por Computador , Ríos , Procesamiento de Imagen Asistido por Computador/métodos , Redes Neurales de la Computación , Cintigrafía , Imagen por Resonancia Magnética/métodosRESUMEN
BACKGROUND: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1. CASE: A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history. She had hypotonia and spontaneous opisthotonic posture. Refractory and extensive CMV infections were detected; immunological investigations revealed normal quantitative immunoglobulins and low numbers of CD3+, CD4+, and CD8+ cells. The next generation sequencing analysis revealed a mutation in the ORAI1 gene. CONCLUSIONS: The present patient`s history of refractory and widespread CMV infections shows a clinically substantial reduction in resistance against opportunistic microorganisms. This case emphasizes the importance of considering STIM1 and ORAI1 defects in patients with SCID phenotype and neurologic involvement, such as hypotonia.
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Infecciones por Citomegalovirus , Inmunodeficiencia Combinada Grave , Humanos , Femenino , Hipotonía Muscular/genética , Linfocitos T CD8-positivos , Diarrea , Fiebre , Inmunodeficiencia Combinada Grave/complicaciones , Inmunodeficiencia Combinada Grave/diagnóstico , Inmunodeficiencia Combinada Grave/genética , Proteína ORAI1/genéticaRESUMEN
Glioblastoma is one of the most devastating neoplasms of the central nervous system. This study focused on the development of serum extracellular vesicle (EV)-based glioblastoma tumor marker panels that can be used in a clinic to diagnose glioblastomas and to monitor tumor burden, progression, and regression in response to treatment. RNA sequencing studies were performed using RNA isolated from serum EVs from both patients (n = 85) and control donors (n = 31). RNA sequencing results for preoperative glioblastoma EVs compared to control EVs revealed 569 differentially expressed genes (DEGs, 2XFC, FDR < 0.05). By using these DEGs, we developed serum-EV-based biomarker panels for the following glioblastomas: wild-type IDH1 (96% sensitivity/80% specificity), MGMT promoter methylation (91% sensitivity/73% specificity), p53 gene mutation (100% sensitivity/89% specificity), and TERT promoter mutation (89% sensitivity/100% specificity). This is the first study showing that serum-EV-based biomarker panels can be used to diagnose glioblastomas with a high sensitivity and specificity.
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BACKGROUND: Dinutuximab is a monoclonal antibody that targets the GD2 antigen used in the treatment of high-risk neuroblastoma. Dinutuximab-associated rhombencephalitis and myelitis is a rare, steroid-responsive, serious, but reversible pathology. To date, three transverse myelitis cases and one rhombencephalitis case due to dinutuximab have already been reported. Moreover, a recently published article identified five inflammatory CNS demyelination cases (four myelitis and one rhombencephalitis). We present a 5-year-old patient with rhombencephalitis and myelitis following dinutuximab-beta treatment. CASE: A 5-year-old patient with a left-sided retroperitoneal mass infiltrating the left kidney and multiple lytic bone lesions was diagnosed with neuroblastoma with a percutaneous biopsy from the abdominal mass. Surgery was performed after a prominent treatment response was detected on the abdominal CT. Radiotherapy was applied to the abdomen. While she was still undergoing maintenance treatment with 13-cis retinoic acid, a metaiodobenzylguanidine (MIBG) scan detected new bone lesions, and brain MRG identified pachymeningeal involvement. A new chemotherapy regimen was started and decreased MIBG uptake was seen in all previous bone lesions. However, newly developed eighth rib metastasis was seen in the following MIBG scan. Autologous stem cell transplantation was done. Soon after, dinutuximab-beta, together with temozolomide and irinotecan, was initiated. Following the third cycle hypotension, somnolence, paraparesis, and unilateral fixed dilated pupil were developed. Afterward, hemiballismus-like irregular limb movements were observed. Work-up studies were unremarkable, except for hypodensity in the brain stem on the brain CT. MRI revealed T2 hyperintensity of the brainstem and spinal cord extending from the cervicomedullary junction to the T7 level. Moreover, incomplete contrast enhancement and facilitated diffusion were observed. Imaging findings suggested demyelination. Steroids and intravenous immune globulin (IVIG) treatment were initiated. Both imaging abnormalities and clinical symptoms resolved partially at one month and disappeared at six months. CONCLUSIONS: Awareness of the radiological findings of dinutuximab toxicity will lead to prompt diagnosis and treatment.
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Enfermedades Desmielinizantes , Trasplante de Células Madre Hematopoyéticas , Mielitis , Neuroblastoma , Femenino , Humanos , Preescolar , 3-Yodobencilguanidina/uso terapéutico , Trasplante Autólogo , Anticuerpos Monoclonales/efectos adversos , Neuroblastoma/diagnóstico por imagen , Neuroblastoma/tratamiento farmacológico , Mielitis/tratamiento farmacológico , Enfermedades Desmielinizantes/tratamiento farmacológicoRESUMEN
Neuroimaging plays a pivotal role in the diagnosis, management, and prognostication of brain tumors. Recently, the World Health Organization published the fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS5), which places greater emphasis on tumor genetics and molecular markers to complement the existing histological and immunohistochemical approaches. Recent advances in computational power allowed modern neuro-oncological imaging to move from a strictly morphology-based discipline to advanced neuroimaging techniques with quantifiable tissue characteristics such as tumor cellularity, microstructural organization, hemodynamic, functional, and metabolic features, providing more precise tumor diagnosis and management. The aim of this review is to highlight the key imaging features of the recently published CNS5, outlining the current imaging standards and summarizing the latest advances in neuro-oncological imaging techniques and their role in complementing traditional brain tumor imaging and management.
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Neoplasias Encefálicas , Imagen por Resonancia Magnética , Humanos , Imagen por Resonancia Magnética/métodos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/terapia , Neuroimagen/métodos , EncéfaloRESUMEN
BACKGROUND: Management of pediatric patients presenting with first seizure is challenging, especially with regards to emergent neuroimaging. The rate of abnormal neuroimaging findings is known to be higher in focal seizures than in generalized seizures, but those intracranial abnormalities are not always clinically emergent. In this study, we aimed to determine the rate and indicators for clinically important intracranial abnormalities that change acute management in children presenting with a first focal seizure to the pediatric emergency department (PED). METHODS: This study was conducted retrospectively in the PED at a University Children`s Hospital setting. The study population consisted of patients aged between 30 days and 18 years with first focal seizure and who had emergent neuroimaging at the PED between the years 2001 and 2012. RESULTS: There were 65 eligible patients meeting the study criteria. Clinically important intracranial abnormalities requiring emergent neurosurgical or medical intervention were detected in 18 patients (27.7%) at the PED. Four patients (6.1%) underwent emergent surgical procedures. Seizure recurrence and the need for acute seizure treatment in the PED were significantly associated with clinically important intracranial abnormalities. CONCLUSIONS: Neuroimaging study yielding of 27.7% shows that first focal seizure must be evaluated meticulously. From the emergency department`s point of view; we suggest that first focal seizures in children should be evaluated with emergent neuroimaging, if possible with magnetic resonance imaging. Especially patients with recurrent seizures at presentation requires more careful evaluation.
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Servicio de Urgencia en Hospital , Convulsiones , Humanos , Niño , Lactante , Estudios Retrospectivos , Convulsiones/diagnóstico por imagen , Convulsiones/etiología , Hospitales Universitarios , NeuroimagenRESUMEN
Freezing of gait (FOG) is an episodic gait pattern that is common in advanced Parkinson's disease (PD) and other atypical parkinsonism syndromes. Recently, disturbances in the pedunculopontine nucleus (PPN) and its connections have been suggested to play a critical role in the development of FOG. In this study, we aimed to demonstrate possible disturbances in PPN and its connections by performing the diffusion tensor imaging (DTI) technique. We included 18 patients of PD with FOG [PD-FOG], 13 patients of PD without FOG [PD-nFOG] and 12 healthy subjects as well as a group of patients with progressive supranuclear palsy (PSP), an atypical parkinsonism syndrome which is very often complicated with FOG [6 PSP-FOG, 5 PSP-nFOG]. To determine the specific cognitive parameters that can be related to FOG, deliberate neurophysiological evaluations of all the individuals were performed. The comparative analyses and correlation analyses were performed to reveal the neurophysiological and DTI correlates of FOG in either group. We have found disturbances in values reflecting microstructural integrity of the bilateral superior frontal gyrus (SFG), bilateral fastigial nucleus (FN), left pre-supplementary motor area (SMA) in the PD-FOG group relative to the PD-nFOG group. The analysis of the PSP group also demonstrated disturbance in left pre-SMA values in the PSP-FOG group likewise, while negative correlations were determined between right STN, left PPN values and FOG scores. In neurophysiological assessments, lower performances for visuospatial functions were demonstrated in FOG ( +) individuals for either patient group. The disturbances in the visuospatial abilities may be a critical step for the occurrence of FOG. Together with the results of DTI analyses, it might be suggested that impairment in the connectivity of disturbed frontal areas with disordered basal ganglia, maybe the key factor for the occurrence of FOG in the PD group, whereas left PPN which is a nondopaminergic nucleus may play a more prominent role in the process of FOG in PSP. Moreover, our results support the relationship between right STN, and FOG as mentioned before, as well as introduce the importance of FN as a new structure that may be involved in FOG pathogenesis.
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Trastornos Neurológicos de la Marcha , Enfermedad de Parkinson , Trastornos Parkinsonianos , Humanos , Imagen de Difusión Tensora/efectos adversos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/patología , Trastornos Neurológicos de la Marcha/diagnóstico por imagen , Trastornos Neurológicos de la Marcha/etiología , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/diagnóstico por imagen , Marcha/fisiología , CogniciónRESUMEN
INTRODUCTION: Stroke-like migraine attacks after radiation therapy (SMART) syndrome, is a late complication of brain radiotherapy (1). Symptoms are commonly subacute in onset and involve migraine type of headache, seizures, focal neurologic deficits (2). Magnetic resonance imaging (MRI) findings are usually unilateral and posterior predominant cortical-subcortical hyperintensity, swelling and prominent gyriform (cortical and leptomeningeal) gadolinium enhancement in the areas of the brain that underwent irradiation with or without diffusion restriction (1). There is no standard treatment protocol for SMART syndrome. Antiepileptics and corticosteroids are commonly used drugs. CASE REPORT: A 65 years old woman was diagnosed with breast cancer with brain metastases and treated with more than 50 Gy brain radiotherapy. The patient presented with acute right-sided weakness and numbness, episodic myoclonic jerking of the right arm and leg, and gait instability five months later. MRI and magnetic resonance angiography of the brain with gadolinium revealed left parietooccipital cortical diffusion restriction and accompanying dilatation of the left posterior cerebral artery as new findings. Computed tomography (CT) perfusion revealed increased perfusion in the affected area. The patient was diagnosed with SMART syndrome. MANAGEMENT AND OUTCOME: The patient was treated with dexamethasone (16 mg/day) and anticonvulsant therapy. Myoclonic seizures had almost completely remitted. However, her cognitive impairment persisted, then the patient was arrested because of aspiration a month later. DISCUSSION: Besides confirming SMART syndrome, diagnostic investigations are also important to exclude other etiologies. Posterior reversible encephalopathy syndrome, post-ictal changes, meningoencephalitis, and cerebrovascular diseases are radiological differential diagnoses considered (3). Proper and early diagnosis of SMART syndrome is significant in preventing unnecessary aggressive approaches and appropriate treatment to avoid lesions of sequela.
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Trastornos Migrañosos , Síndrome de Leucoencefalopatía Posterior , Humanos , Femenino , Anciano , Medios de Contraste , Gadolinio/uso terapéutico , Síndrome de Leucoencefalopatía Posterior/complicaciones , Trastornos Migrañosos/diagnóstico , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Imagen por Resonancia Magnética/métodosRESUMEN
BACKGROUND: Late-phase images on computed tomography angiography (CTA), traditionally used for assessing cerebral circulatory arrest in brain death, suffer from suboptimal diagnostic yield due to stasis filling. Herein, we assessed contrast filling in individual intracranial arteries and veins in the early and late phases of CTA in patients with clinically confirmed brain death. METHODS: Contrast opacification within 28 arterial/venous segments was evaluated in both phases of CTA in 79 patients. This information was combined with reports in the literature to calculate prevalence of contrast filling in different intracranial vessels. Additionally, diagnostic sensitivity of 4-point, 7-point, and 10-point scores defined for brain death were compared among ratings based on early, late, and both phases (arteries rated on early, veins rated on late phase) of imaging. RESULTS: The median (IQR) number of vessel segments with contrast opacification was 0 (0-2) in early phase and 6 (0-10) in late phase. All segments showed increased prevalence of opacification when evaluated in late phase (p < 0.05). The M4 segments of MCA, internal cerebral veins, and vein of Galen had the lowest percentage of opacification in both phases. The sensitivity of 4-, 7-, and 10-point scoring algorithms increased from 59-91% to 94-99% when ratings were performed using early-phase images rather than based solely on late-phase images. CONCLUSIONS: The incorporation of early-phase images might be considered as a strategy to improve the sensitivity of CTA as an ancillary test in confirming brain death, especially in patients without missing or questionable elements in clinical examination.
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Muerte Encefálica , Angiografía por Tomografía Computarizada , Muerte Encefálica/diagnóstico por imagen , Angiografía Cerebral/métodos , Circulación Cerebrovascular , Angiografía por Tomografía Computarizada/métodos , Humanos , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X/métodosRESUMEN
PURPOSE: Hypophysitis is a heterogeneous condition that includes inflammation of the pituitary gland and infundibulum, and it can cause symptoms related to mass effects and hormonal deficiencies. We aimed to evaluate the potential role of machine learning methods in differentiating hypophysitis from non-functioning pituitary adenomas. METHODS: The radiomic parameters obtained from T1A-C images were used. Among the radiomic parameters, parameters capable of distinguishing between hypophysitis and non-functioning pituitary adenomas were selected. In order to avoid the effects of confounding factors and to improve the performance of the classifiers, parameters with high correlation with each other were eliminated. Machine learning algorithms were performed with the combination of gray-level run-length matrix-low gray level run emphasis, gray-level co-occurrence matrix-correlation, and gray-level co-occurrence entropy. RESULTS: A total of 34 patients were included, 17 of whom had hypophysitis and 17 had non-functioning pituitary adenomas. Among the 38 radiomics parameters obtained from post-contrast T1-weighted images, 10 tissue features that could differentiate the lesions were selected. Machine learning algorithms were performed using three selected parameters; gray level run length matrix-low gray level run emphasis, gray-level co-occurrence matrix-correlation, and gray level co-occurrence entropy. Error matrices were calculated by using the machine learning algorithm and it was seen that support vector machines showed the best performance in distinguishing the two lesion types. CONCLUSIONS: Our analysis reported that support vector machines showed the best performance in distinguishing hypophysitis from non-functioning pituitary adenomas, emphasizing the importance of machine learning in differentiating the two lesions.
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Hipofisitis , Neoplasias Hipofisarias , Humanos , Aprendizaje Automático , Imagen por Resonancia Magnética/métodos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/patología , Estudios RetrospectivosRESUMEN
BACKGROUND: Since December 2019, coronavirus disease 2019 (COVID-19) has become a global pandemic caused by highly transmissible severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although respiratory disease and multisystem inflammatory syndrome in children (MIS-C) are main clinical presentations in children, numerous neurological manifestations are being described increasingly. We aimed to investigate new onset neurological symptoms associated with SARS-CoV-2 in pediatric patients in order to establish a possible relationship as well as to understand the underlying pathophysiological mechanisms between SARS-CoV-2 infection and neurological findings. METHODS: We analyzed retrospectively children who had neurologic manifestations temporally associated with SARS-CoV-2 infection at Hacettepe University Ihsan Dogramaci Children's Hospital. We performed a literature search between March 20, 2020 and March 30, 2021. Articles that report children with COVID-19 related neurological manifestations were included. RESULTS: We have observed 15 consecutive cases with new onset neurological manifestations along with confirmed SARS-CoV-2 infection. Age at hospitalization ranged from three months to 17 years. Ten patients had central nervous system involvement, and most common manifestation was encephalopathy (5/10), which is also one of the most common manifestations of the patients mentioned in the relevant 39 articles we reviewed. CONCLUSION: Children with COVID-19 can present with neurologic findings such as encephalopathy, seizures, cerebrovascular events as well as abnormal eye movements. Clinical suspicion and awareness are required to show the association between neurologic manifestations and COVID-19.
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COVID-19 , Enfermedades del Sistema Nervioso , COVID-19/complicaciones , Niño , Humanos , Lactante , Enfermedades del Sistema Nervioso/epidemiología , Enfermedades del Sistema Nervioso/etiología , Estudios Retrospectivos , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria Sistémica , Turquía/epidemiologíaRESUMEN
We present a pediatric patient presenting with life-threatening severe neurological signs, chronic liver disease, and manganese intoxication who fully recovered from neurological signs and symptoms following chelation therapy and therapeutic plasma exchange (TPE). A 13-year-old female patient was admitted with abdominal pain. Loss of consciousness and decorticate posture (GCS;M:1,V:1,M:3) developed at the 5th hour of admission. She admitted to the intensive care unit intubated. No infectious etiology that could explain acute encephalopathy was detected. Abdominal ultrasound showed granular, heterogeneous liver parenchyma suggesting chronic hepatic disease, and TPE was administered for two days since Wilson's disease and autoimmune encephalitis could not be ruled out. Cranial MRI findings were consistent with a diagnosis of manganese intoxication. On Day 3 after admission, chelation therapy and TPE were administered based on a diagnosis of manganese intoxication. Blood manganese levels at admission, day 2, and day 5 were 46, 22, and 17.5 µg/dL (NR:4.7-18.3). Control MRI results showed reduced intracranial manganese deposition, and the patient regained full consciousness. TPE as an adjunct to chelation therapy may represent an effective therapeutic option in manganese intoxication.
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Degeneración Hepatolenticular , Intercambio Plasmático , Adolescente , Niño , Femenino , Degeneración Hepatolenticular/terapia , Humanos , Manganeso , Intercambio Plasmático/métodos , PlasmaféresisRESUMEN
OBJECTIVE: Epilepsy surgery has shown efficacy in children. We aimed to assess long-term seizure outcome in children who underwent epilepsy surgery and determine predictive factors for seizure freedom. METHODS: This is a retrospective study of 196 children who underwent epilepsy surgery between 1994 and 2015 and had a minimum postoperative follow-up of 5 years. RESULTS: The median age at the time of surgery was 9.5 (0.08-19.8) years; 110 (56.1%) had temporal, 62 (31.6%) had extratemporal resections, and 24 (12.2%) had hemispheric surgery. The duration of postsurgical follow-up was between 5 and 20 years (mean±SD: 7 ± 3.2). Overall, 129 of 196 (65.8%) patients had Engel class I outcome at final visit. Among patients who underwent temporal, extratemporal and hemispheric surgery; 84 of 110 (76.4%), 34 of 62 (54.8%), and 11 of 24 (45.8%) patients had complete seizure freedom, respectively (p: 0.016). Patients with tumors had the best outcome, with 83.1% seizure freedom. The number of preoperative antiseizure medications (OR 3.19, 95% CI 1.07-9.48), the absence of postoperative focal epileptiform discharges (OR 8.98, 95% CI 4.07-19.79) were independent predictors of seizure freedom. Across two decades, the age at surgery was decreased (p: 0.003), overall seizure freedom (61.8% vs 68%) did not differ. In the past decade, a higher proportion of malformations of cortical development was operated (14.7% vs 35.9%, p: 0.007). SIGNIFICANCE: Our findings showed favorable long-term seizure outcome in children who underwent epilepsy surgery. The results are encouraging for developing centers with limited resources to establish pediatric epilepsy programs.
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Epilepsia , Convulsiones , Niño , Epilepsia/patología , Epilepsia/cirugía , Humanos , Procedimientos Neuroquirúrgicos/métodos , Estudios Retrospectivos , Convulsiones/cirugía , Resultado del TratamientoRESUMEN
ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings along with comprehensive genetic studies of the patients and their family members are presented. Developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, and dysmorphic features are the characteristic findings of this new clinical entity, involving mainly nervous system and possibly connective tissue. Whole exome sequence analysis followed by Sanger sequencing in all family members revealed disease-causing 8 bp frameshift mutation depicted as NM_001128636.2: c.42_49delGGCCGCCA; p. (Ala15Profs*241) in ELFN1. The variant, located in the signal peptide domain in the ELFN1 gene, was found to be homozygous in three patients, and heterozygous in the parents and three healthy siblings. Segregation analysis in family members together with pathogenicity assessment tools strongly supported the damaging effect of the frameshift variant on the function of the ELFN1 protein. Mutations in ELFN1 gene may be considered in patients with neonatal and infantile-onset epileptic encephalopathy before the full clinical picture is apparent.
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Discapacidades del Desarrollo/genética , Inestabilidad de la Articulación/genética , Proteínas del Tejido Nervioso/genética , Espasmos Infantiles/genética , Adolescente , Alelos , Células Cultivadas , Niño , Discapacidades del Desarrollo/patología , Femenino , Mutación del Sistema de Lectura , Homocigoto , Humanos , Lactante , Inestabilidad de la Articulación/patología , Masculino , Proteínas del Tejido Nervioso/metabolismo , Linaje , Fenotipo , Espasmos Infantiles/patologíaRESUMEN
Background/aim: Volume and T2 relaxation time measurements of the skeletal muscle provide quantitative information. We aimed to evaluate the interobserver reliability and the intraobserver reproducibility of measurements of volumes and T2 relaxation times of the quadriceps femoris and the hamstring muscles. Materials and methods: A cross-sectional reliability study was conducted on ten recreational athletes. The images of the quadriceps and the hamstring muscles of both limbs were obtained using a 3.0 Tesla magnetic resonance imaging (MRI) scanner. Two sports medicine specialists measured muscle volumes from a total of 2560 images and T2 relaxation times from a total of 40 images, and repeated this once more. The intraobserver and interobserver compliance were assessed by the intraclass correlation coefficient (ICC) and Cronbach's alpha (α). Results: Volume and T2 relaxation time of quadriceps femoris and hamstring muscle measurements with MRI had good to excellent reliability (Muscle volume; intraobserver ICCs: between 0.97 and 0.99, α: between 0.98 and 0.99 and interobserver ICCs: between 0.96 and 0.99, α: 0.99. T2 relaxation time; intraobserver ICCs: between 0.74 and 0.96, α: between 0.85 and 0.98 and interobserver ICCs: between 0.75 and 0.90, α: between 0.85 and 0.95). Conclusion: Volume and T2 relaxation time measurements of the quadriceps femoris and the hamstring muscles are reliable and reproducible.
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Músculos Isquiosurales , Músculo Cuádriceps , Estudios Transversales , Músculos Isquiosurales/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Músculo Esquelético/diagnóstico por imagen , Músculo Cuádriceps/diagnóstico por imagen , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVES: This study aimed to examine the vestibulo-collic reflex (VCR) and linear vestibulo-ocular reflex (lVOR) and their correlation with brain lesions in pediatric-onset multiple sclerosis (POMS). METHODS: The study group consisted of 17 patients (34 ears) with POMS (mean age 18.73⯱â¯2.02, mean age at disease onset 14.64⯱â¯1.36â¯years), and the control group included 11 age-matched healthy subjects (22 ears). Ocular and cervical Vestibular Evoked Myogenic Potentials (oVEMP and cVEMP) were performed to assess IVOR and VCR pathways. Magnetic Resonance Imaging was evaluated in the study group. RESULTS: In the POMS group, 47.05 % of oVEMPs and 17.64 % of the cVEMPs were abnormal, while all VEMPs were normal in the control group. The oVEMP amplitude was associated with infratentorial lesion volume (râ¯=â¯-0.459, pâ¯=â¯0.01) and total lesion volume of the brainstem and cerebellum (râ¯=â¯-0.450, pâ¯=â¯0.01). The cVEMP asymmetry ratio was correlated with the deep white matter lesion volume (râ¯=â¯0.683, pâ¯<â¯0.001). The MVEMP scores were found to correlate only with lesion volumes in the cerebellum (râ¯=â¯0.488, pâ¯=â¯0.04) and infratentorial region (râ¯=â¯0.573, pâ¯=â¯0.01). CONCLUSIONS: Ocular and cervical VEMP abnormalities confirm that lVOR and VCR pathways may be affected in early POMS. SIGNIFICANCE: Routine use of the VEMP test, especially the oVEMP test is recommended as a useful tool in the follow-up of POMS patients.
Asunto(s)
Esclerosis Múltiple Recurrente-Remitente/diagnóstico por imagen , Esclerosis Múltiple Recurrente-Remitente/fisiopatología , Reflejo Vestibuloocular/fisiología , Potenciales Vestibulares Miogénicos Evocados/fisiología , Adolescente , Edad de Inicio , Niño , Femenino , Humanos , MasculinoRESUMEN
Objective: Graph theory applications are commonly used in connectomics research to better understand connectivity architecture and characterize its role in cognition, behavior and disease conditions. One of the numerous open questions in the field is how to represent inter-individual differences with graph theoretical methods to make inferences for the population. Here, we proposed and tested a simple intuitive method that is based on finding the correlation between the rank-ordering of nodes within each connectome with respect to a given metric to quantify the differences/similarities between different connectomes. Methods: We used the diffusion imaging data of the entire HCP-1065 dataset of the Human Connectome Project (HCP) (n = 1,065 subjects). A customized cortical subparcellation of HCP-MMP atlas (360 parcels) (yielding a total of 1,598 ROIs) was used to generate connectivity matrices. Six graph measures including degree, strength, coreness, betweenness, closeness, and an overall "hubness" measure combining all five were studied. Group-level ranking-based aggregation method ("measure-then-aggregate") was used to investigate network properties on population level. Results: Measure-then-aggregate technique was shown to represent population better than commonly used aggregate-then-measure technique (overall rs: 0.7 vs 0.5). Hubness measure was shown to highly correlate with all five graph measures (rs: 0.88-0.99). Minimum sample size required for optimal representation of population was found to be 50 to 100 subjects. Network analysis revealed a widely distributed set of cortical hubs on both hemispheres. Although highly-connected hub clusters had similar distribution between two hemispheres, average ranking values of homologous parcels of two hemispheres were significantly different in 71% of all cortical parcels on group-level. Conclusion: In this study, we provided experimental evidence for the robustness, limits and applicability of a novel group-level ranking-based hubness analysis technique. Graph-based analysis of large HCP dataset using this new technique revealed striking hemispheric asymmetry and intraparcel heterogeneities in the structural connectivity of the human brain.