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1.
Epilepsy Behav ; 156: 109824, 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38788661

RESUMEN

OBJECTIVE: This study evaluated the efficacy of Virtual Reality-Based Seizure Management Education Program for Parents (VR-ESMEPP) that was designed to improve parents' knowledge-skill percentage about epileptic seizure, and motivation levels about educational material. METHODS: The study was conducted at a university hospital's pediatric neurology clinic in Turkey and involved both a VR-trained group and a control group. The parents' knowledge-skill percentage about epileptic seizure, and motivation levels about educational material were assessed before, after, and at 15 days after participating in VR-ESMEPP. RESULTS: The parents' knowledge-skill percentage about epileptic seizure increased in the group that participated in the VR-ESMEPP. There was no such increase in the control group. Examination of the scores of the Instructional Materials Motivation Survey (IMMS) for the parents showed that while there was a significant increase between the pre-test and post-test within the group that participated in the VR-ESMEPP, there was no significant difference in the scores of the control group. However, the high IMMS scores obtained by all parents indicate the motivating nature of the education material. SIGNIFICANCE: The study established the efficacy of VR-ESMEPP and demonstrated its ability to enhance parents' knowledge-skill percentage about epileptic seizure. Despite the absence of a difference in motivation levels between the groups, the high scores obtained by all participants indicate that the program was indeed motivating.

2.
Childs Nerv Syst ; 39(11): 3207-3214, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37480521

RESUMEN

PURPOSE: The aim of this study was to determine the clinical, laboratory, and radiological factors related with posttraumatic epilepsy (PTE). METHODS: The study is a multicenter descriptive cross-sectional cohort study. Children who followed up for TBI in the pediatric intensive care unit between 2014 and 2021 were included. Demographic data and clinical and radiological parameters were recorded from electronic case forms. All patients who were in the 6-month posttraumatic period were evaluated by a neurologist for PTE. RESULTS: Four hundred seventy-seven patients were included. The median age at the time of trauma was 66 (IQR 27-122) months, and 298 (62.5%) were male. Two hundred eighty (58.7%) patients had multiple traumas. The mortality rate was 11.7%. The mean duration of hospitalization, pediatric intensive care unit hospitalization and mechanical ventilation, Rotterdam score, PRISM III score, and GCS at admission were higher in patients with epilepsy (p < 0.05). The rate of epilepsy was higher in patients with severe TBI, cerebral edema on tomography and clinical findings of increased intracranial pressure, blood transfusion in the intensive care unit, multiple intracranial hemorrhages, and intubated patients (p < 0.05). In logistic regression analysis, the presence of intracranial hemorrhage in more than one compartment of the brain (OR 6.13, 95%CI 3.05-12.33) and the presence of seizures (OR 9.75, 95%CI 4.80-19.83) were independently significant in terms of the development of epilepsy (p < 0.001). CONCLUSIONS: In this multicenter cross-sectional study, intracranial hemorrhages in more than one compartment and clinical seizures during intensive care unit admission were found to be independent risk factors for PTE development in pediatric intensive care unit patients with TBI.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Enfermedad Crítica , Niño , Femenino , Humanos , Masculino , Lesiones Traumáticas del Encéfalo/complicaciones , Lesiones Traumáticas del Encéfalo/diagnóstico por imagen , Estudios Transversales , Hemorragias Intracraneales , Convulsiones , Preescolar
3.
J Pediatr Intensive Care ; 12(1): 55-62, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36742257

RESUMEN

Introduction Pediatric traumatic brain injury (TBI) is a significant cause of death and long-term disability. There is a paucity of data on quality of life in survivors of pediatric TBI. The aim of this study is to determine the factors affecting the quality of life after TBI in children. Methods Consecutively admitted 104 of 156 patients to the pediatric intensive care unit (PICU) with TBI between 1 month and 18 years were included in the study. Demographics were obtained from electronic records. Injury severity and mortality scores were calculated. The Pediatric Quality of Life Inventory (PedsQL) scale and Glasgow Outcome Scale (GOS) score were evaluated by interview with patient or the caregiving parents. The Rotterdam computed tomography (CT) score was calculated from the radiology images taken within the first 24 hours after admission to the emergency service. Results Severe TBI, multiple trauma, intracranial hemorrhage from multiple sites, convulsions, high intracranial pressure, emergency operation on admission, and hypotension on admission were associated with low PedsQL values according to results of univariate analysis ( p < 0.05). There was a negative correlation between PedsQL and GOS, mechanical ventilation duration, PICU length of stay (LOS), and hospital LOS. In the linear regression model made by considering the univariate analysis results, it was shown that Rotterdam CT score and PICU LOS are independent variables that determine low PedsQL score. PedsQL scores were lower in children ≥ 8 years of age and in those evaluated within the first year after discharge ( p = 0.003). Conclusion In pediatric TBI, Rotterdam CT score and PICU LOS were found as independent variables determining PedsQL score after discharge.

4.
Epilepsy Behav ; 135: 108875, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35986956

RESUMEN

OBJECTIVE: Parents of children with epilepsy need support when managing epileptic seizures outside medical-care-center-settings. Previously developed training programs only provide information-based support. Therefore, within the scope of the VR-ESMEPP, a conceptual framework was developed in this study with the aim of developing parents' skills and motivation as well as providing them information regarding seizure management. METHODS: The conceptual framework of the VR-ESMEPP was developed in four steps. In step 1, a scenario was developed wherein a pediatric patient with epilepsy is having a seizure. The selected seizure type was "Focal to bilateral tonic-clonic" seizure, which is the most common and most skill-intensive type of tonic-clonic-seizure. In step 2, data collection tools related to epileptic seizure management were developed for parents. These tools included Child and Parent Introductory Form, Parental Information Assessment Form for Epileptic Seizure Management, and Parental Skills Assessment Form for Epileptic Seizure Management. In step 3, the conceptual framework and data collection tools developed were confirmed by a group of 10 specialists consisting of physicians and pediatric nurses working in the field of pediatric neurology. In step 4, the epileptic-pediatric-patient-scenario and data collection tools confirmed by experts were programmed into an application by a software company and integrated into virtual reality headsets. RESULTS: VR-ESMEPP with the conceptual framework described in the present study is a valid virtual reality-based program, which can be carried out under nurses' supervision and used to provide epilepsy-related education to parents. SIGNIFICANCE: VR-ESMEPP helped parents increase their knowledge and skills of epileptic seizure.


Asunto(s)
Epilepsia , Médicos , Realidad Virtual , Niño , Epilepsia/terapia , Humanos , Padres , Convulsiones/terapia
5.
Gene ; 823: 146322, 2022 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-35219815

RESUMEN

SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were determined using MLPA method. We aimed to reveal both the most common copy number profiles of different SMA types. It was found that the frequency of homozygous deletions in SMN1 was 15.9%, while heterozygous deletions was 16.9%. The most common SMN-MLPA profile was 0-0-3-3. In the cases with homozygous deletion, SMA type III diagnosis was observed most frequently (44%), and the rate of consanguineous marriage was found 33%. Two cases with the same exonic copy number profile but with different clinical subtypes were identified in a family. We also detected distinct exonic deletion and duplication MLPA profiles for the first time. We created "the SMA signature" that can be added to patient reports. Furthermore, our data are important for revealing potential local profiles of SMA and describing the disease in genetic reports in a way that is clear and comprehensive.


Asunto(s)
Variaciones en el Número de Copia de ADN , Atrofia Muscular Espinal/genética , Eliminación de Secuencia , Proteína 1 para la Supervivencia de la Neurona Motora/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Consanguinidad , Exones , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Tasa de Mutación , Proteína 2 para la Supervivencia de la Neurona Motora/genética , Adulto Joven
6.
Artículo en Inglés | MEDLINE | ID: mdl-34728497

RESUMEN

BACKGROUND AND OBJECTIVES: To study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN). METHODS: Patients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, and functional scales (modified Rankin Scale [mRS] and Inflammatory Rasch-built Overall Disability Scale [I-RODS]) were retrospectively collected at baseline and at the follow-up. Autoantibody and neurofilament light (NfL) chain levels were analyzed at baseline and at the follow-up. RESULTS: Forty NF155+ patients with AN were included. Mean age at onset was 42.4 years. Patients presented with a progressive (75%), sensory motor (87.5%), and symmetric distal-predominant weakness in upper (97.2%) and lower extremities (94.5%), with tremor and ataxia (75%). Patients received a median of 3 (2-4) different treatments in 46 months of median follow-up. Response to IV immunoglobulin (86.8%) or steroids (72.2%) was poor in most patients, whereas 77.3% responded to rituximab. HLA-DRB1*15 was detected in 91.3% of patients. IgG4 anti-NF155 antibodies were predominant in all patients; anti-NF155 titers correlated with mRS within the same patient (r = 0.41, p = 0.004). Serum NfL (sNfL) levels were higher in anti-NF155+ AN than in healthy controls (36.47 vs 7.56 pg/mL, p < 0.001) and correlated with anti-NF155 titers (r = 0.43, p = 0.001), with I-RODS at baseline (r = -0.88, p < 0.001) and with maximum I-RODS achieved (r = -0.58, p = 0.01). Anti-NF155 titers and sNfL levels decreased in all rituximab-treated patients. DISCUSSION: Anti-NF155 AN presents a distinct clinical profile and good response to rituximab. Autoantibody titers and sNfL are useful to monitor disease status in these patients. The use of untagged-NF155 plasmids minimizes the detection of false anti-NF155+ cases. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that anti-NF155 antibodies associate with a specific phenotype and response to rituximab.


Asunto(s)
Autoanticuerpos/sangre , Enfermedades Autoinmunes del Sistema Nervioso , Moléculas de Adhesión Celular/inmunología , Factores Inmunológicos/farmacología , Factores de Crecimiento Nervioso/inmunología , Nódulos de Ranvier/inmunología , Rituximab/farmacología , Adulto , Anciano , Enfermedades Autoinmunes del Sistema Nervioso/sangre , Enfermedades Autoinmunes del Sistema Nervioso/tratamiento farmacológico , Enfermedades Autoinmunes del Sistema Nervioso/inmunología , Enfermedades Autoinmunes del Sistema Nervioso/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
7.
Acta Clin Croat ; 60(2): 326-328, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34744287

RESUMEN

Adrenoleukodystrophy is a rare X-linked hereditary disease that results in accumulation of very-long-chain fatty acids in all body tissues, thus causing demyelination of the white matter. Magnetic resonance imaging (MRI) is a reliable radiological modality to demonstrate the extension of brain lesions and severity of the disease. In the classic form, the parieto-occipital white matter is affected. Besides, atypical MRI findings such as primary frontal lobe involvement are rarely described. We report a case of adrenoleukodystrophy presenting with rare MRI findings such as bilateral symmetric frontal lobe white matter changes suggesting anterior predominance.


Asunto(s)
Adrenoleucodistrofia , Adrenoleucodistrofia/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética
8.
Epilepsy Res ; 169: 106516, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33276244

RESUMEN

PURPOSE: Fever-induced inflammatory processes and pro-inflammatory cytokines have gained importance in recent years in the pathogenesis of febrile convulsion. Increased levels of HMGB1 (high mobility group box 1), one of the most important pro-inflammatory cytokines, are associated with prolongation of seizure duration, recurrence of seizures and the development of epilepsy. Changes in the sTLR4 level (soluble toll-like receptor 4) in the cerebrospinal fluid (CSF) are thought to be associated with memory and learning functions. In our study, we aimed to evaluate changes in HMGB1 and sTLR4 levels in patients who had febrile seizures between 6 months and 6 years. METHODS: Forty patients who were admitted to Akdeniz University Medical Faculty Hospital between April 2016 and April 2018 with a complaint of febrile seizure and 45 patients whose CSF samples were taken for complaints other than febrile convulsion (control group) were included in our study. RESULTS: Comparison of the CSF HMGB1 levels of the febrile convulsion group and control group revealed a statistically significant increase in patients with febrile convulsions (p: 0.001). Comparison of the subgroups revealed that the mean value of CSF HMGB1 level was highest in the complex FS group with a mean value of 3363.9 ± 835,47 pg/mL. Comparison of the patient and control groups revealed that the changes in CSF sTLR4 levels were not statistically significant. CONCLUSION: HMGB1 level, a key inflammatory molecule, was significantly higher in the CSF of children with febrile seizures. Our data suggest that the HMGB1 network may contribute to the generation of febrile seizures in children.


Asunto(s)
Proteína HMGB1/metabolismo , Convulsiones Febriles , Receptor Toll-Like 4/metabolismo , Niño , Citocinas , Fiebre , Humanos , Lactante , Convulsiones
9.
Epilepsy Behav ; 111: 107142, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32702651

RESUMEN

BACKGROUND: When youth with epilepsy and their parents have insufficient information about the disease, they are known to have more problems with disease management, and they show poor compliance. Providing accurate, reliable, and accessible information with no time and space limitations is extremely important for individuals with epilepsy as well as for their caregivers. AIM: In this study, we aimed to evaluate the content, quality, usability, and efficacy of our web-based epilepsy education program (WEEP) that we developed for youth with epilepsy and their parents. METHODS: The sample of this randomized controlled trail was composed of youth with epilepsy who were between the ages of 9 and 18 years and their parents who had applied to the Pediatric Neurology Unit of a tertiary healthcare hospital in Turkey between November 2017 and April 2018. This study was conducted in two stages: (1) the preparation phase, during which we developed a WEEP for epilepsy, and tested its content, quality, and usability; and (2) the implementation phase, during which we evaluated the efficacy of the website by assessing users' knowledge of epilepsy, seizure self-efficacy, attitudes, and e-health literacy. Before the implementation phase, data collection tools were used to test the prior knowledge of epilepsy of the participants and control groups. Next, the youth and their parents were asked to use the WEEP for 12 weeks, while a control group was not provided with additional education tools. Written consent was obtained from the participants prior to the study in addition to obtaining approval from the ethics committee and permission from the institution where the research was conducted. The data were finally analyzed using SAS 9.4 software. RESULTS: During the preparation phase, the website was developed and tested for content, quality, and usability. The WEEP was graded 72.7 ±â€¯3.4 points by experts, 92.4 ±â€¯1.63 by youth with epilepsy, and 92.31 ±â€¯1.94 by the parents. During the implementation phase, the efficacy of the web site was evaluated through the assessment of participants' scores. We found that the mean knowledge, seizure self-efficacy, attitude, and e-health literacy scores of youth with epilepsy in the experimental group had significantly increased after the WEEP (p < 0.05). An increase in the scores of knowledge, anxiety, self-management, and e-health literacy scale was also found among the parents in the intervention group (p < 0.05). CONCLUSION: The content, quality, and usability of the WEEP were adequate and effective in improving knowledge, self-efficacy, attitudes, and e-health literacy of youth with epilepsy as well as those of their parents.


Asunto(s)
Epilepsia/terapia , Padres/educación , Educación del Paciente como Asunto/normas , Automanejo/educación , Telemedicina/normas , Adolescente , Adulto , Niño , Epilepsia/epidemiología , Epilepsia/psicología , Femenino , Alfabetización en Salud/métodos , Alfabetización en Salud/normas , Humanos , Internet/normas , Masculino , Padres/psicología , Educación del Paciente como Asunto/métodos , Autoeficacia , Automanejo/métodos , Automanejo/psicología , Telemedicina/métodos , Resultado del Tratamiento , Turquía/epidemiología
11.
J Pediatr Neurosci ; 15(4): 365-369, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33936299

RESUMEN

BACKGROUND: Vitamin B12 deficiency occurs primarily as a result of insufficient dietary intake in children in developing countries. Vitamin B12 deficiency produces a cluster of neurological symptoms in children. AIM: The aim of this study was to describe the vitamin B12 status of patients who were admitted with neurological symptoms and to evaluate the clinical response to vitamin B12 treatment. MATERIALS AND METHODS: This study was conducted on children who had vitamin B12 deficiency presented with neurological findings from January 2014 to October 2016. Patients with serum vitamin B12 levels lower than 300 pg/mL received intramuscular or oral vitamin B12 treatment. RESULTS: Three hundred and fifty-one patients presenting with neurologic symptoms and who had low serum vitamin B12 deficiency were analyzed. Our study population was composed mainly of adolescent age. The most common symptom with respect to age was headache. In infant patients, most common symptoms were seizure and developmental delay. CONCLUSION: Early diagnosis and vitamin B12 treatment are advocated to avoid long-term injury. Our study shows that patients with serum vitamin B12 levels lower than 300 pg/mL showed clinical improvement of neurological symptoms after receiving vitamin B12 treatment.

12.
Genet Med ; 22(3): 511-523, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31680123

RESUMEN

PURPOSE: Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood. METHODS: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA). RESULTS: We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine novel variants. Our work identified 14 novel disease-gene associations for fetal akinesia: ADSSL1, ASAH1, ASPM, ATP2B3, EARS2, FBLN1, PRG4, PRICKLE1, ROR2, SETBP1, SCN5A, SCN8A, and ZEB2. Furthermore, a sibling pair harbored a homozygous copy-number variant in TNNT1, an ultrarare congenital myopathy gene that has been linked to arthrogryposis via Gene Ontology analysis. CONCLUSION: Our analysis indicates that genetic defects leading to primary skeletal muscle diseases might have been underdiagnosed, especially pathogenic variants in RYR1. We discuss three novel putative fetal akinesia genes: GCN1, IQSEC3 and RYR3. Of those, IQSEC3, and RYR3 had been proposed as neuromuscular disease-associated genes recently, and our findings endorse them as FA candidate genes. By combining NGS with deep clinical phenotyping, we achieved a 73% success rate of solved cases.


Asunto(s)
Enfermedades Fetales/genética , Factores de Intercambio de Guanina Nucleótido/genética , Proteínas de Unión al ARN/genética , Canal Liberador de Calcio Receptor de Rianodina/genética , Transactivadores/genética , Adolescente , Adulto , Artrogriposis/genética , Artrogriposis/patología , Niño , Preescolar , Variaciones en el Número de Copia de ADN/genética , Femenino , Enfermedades Fetales/patología , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Recién Nacido , Masculino , Enfermedades Musculares/genética , Enfermedades Musculares/patología , Adulto Joven
13.
Muscle Nerve ; 59(1): 76-81, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30019351

RESUMEN

INTRODUCTION: The aim of this study was to determine alterations in axonal excitability in tibial nerve as compared with median nerve axonal excitability in patients with diabetic polyneuropathy. METHODS: Six patients with diabetic polyneuropathy and 10 patients with diabetes mellitus without polyneuropathy were enrolled. RESULTS: Compared with diabetic patients without polyneuropathy, the tibial nerve strength-duration time constant was significantly longer and supernormality was lower in those with polyneuropathy. Threshold electrotonus studies showed abnormalities in patients with diabetic polyneuropathy, in which smaller threshold changes from long-depolarizing and hyperpolarizing conditioning, termed "fanning-in," were found. DISCUSSION: This study confirms that axonal excitability is significantly altered in the tibial nerve of patients with diabetic polyneuropathy. Evaluating the axonal excitability of the median and tibial nerves may reveal the presence of length-dependent polyneuropathy at an early stage. Muscle Nerve 59:76-81, 2019.


Asunto(s)
Axones/fisiología , Diabetes Mellitus Tipo 1/patología , Neuropatías Diabéticas/patología , Nervio Tibial/fisiopatología , Adolescente , Neuropatías Diabéticas/etiología , Electromiografía , Potenciales Evocados Motores/fisiología , Femenino , Humanos , Masculino , Nervio Mediano/fisiopatología , Conducción Nerviosa/fisiología , Adulto Joven
14.
Seizure ; 53: 62-65, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29127859

RESUMEN

PURPOSE: Despite their age-dependent definition, febrile seizures (FS) may be observed in people of almost any age. The risk of developing unprovoked seizures after an FS is well defined. However, there are limited data about FS starting or persisting after 5 years of age. In the present study, we evaluated patients who developed FS after 5 years of age. METHOD: Between 2010 and 2014, we prospectively enrolled all patients with FS. We collected demographic and clinical features, radiologic images, electroencephalograms (EEGs), and results of psychomotor development tests and treatment data of the patients. The patients were grouped into two groups. Group 1 consisted of patients who had the first FS after 5 years of age, and group 2 consisted of patients in whom FS persisted after 5 years of age. Fisher's exact test and Pearson's chi-square test were used to analyse the study data and derive conclusions. RESULTS: Sixty-four patients were enrolled, and afebrile seizure was observed in 12 (18.8%) of them. Nine (14%) patients were diagnosed to have epilepsy in their follow-up examination. Subsequent epilepsy occurrence was independent of gender, mean age, medical history of the patient, family history of epilepsy, presence of afebrile seizure, type of seizure, type of FS, duration of seizure, semiology of seizure, peak fever and EEG and magnetic resonance imaging (MRI) findings in our total cohort. There were no statistical differences between the groups with regard to the occurrence of subsequent afebrile seizure or epilepsy (p>0.5). CONCLUSION: Close follow-up is important in patients with FS after the age of 5 years. These seizures are generally benign, but tend to recur and increase the risk of development of epilepsy in the patient. Further studies with a larger cohort are warranted to clarify risk factors and incidence of epilepsy in these patients.


Asunto(s)
Epilepsia/epidemiología , Convulsiones Febriles/epidemiología , Edad de Inicio , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Factores de Riesgo
15.
Arab J Gastroenterol ; 17(3): 137-139, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27658326

RESUMEN

We present a case report of a 7-year-old patient who developed toxic epidermal necrolysis (TEN) and vanishing bile duct syndrome (VBDS) after oral ibuprofen intake. Acute VBDS is a rare disease with unknown aetiology, often presenting with progressive loss of the intrahepatic biliary tract. TEN is an immune complex-mediated hypersensitivity reaction involving the skin and mucosa, which is induced by drugs or infectious diseases, sometimes leading to systemic symptoms. The patient in this case report was treated with supportive care, a steroid and ursodeoxycholic acid, with complete recovery observed by the end of the 8th month. This case report suggests that ibuprofen can cause acute vanishing duct syndrome.


Asunto(s)
Antipiréticos/efectos adversos , Colestasis Intrahepática/inducido químicamente , Ibuprofeno/efectos adversos , Síndrome de Stevens-Johnson/etiología , Niño , Colestasis Intrahepática/patología , Humanos , Masculino , Síndrome
16.
J Neurovirol ; 22(5): 661-665, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27103395

RESUMEN

The two polymorphisms [IL-12 (-1188) A/C and the IFN-γ (+874) A/T)] are known to have functional consequences and henceforth were analyzed in subacute sclerosing panencephalitis (SSPE) patients to reveal a possible relation with these polymorphisms and this debilitating disease. For the IL-12 (-1188) A/C polymorphism, 78 patients and 90 healthy individuals were analyzed. An increase in the AA genotype was determined (p = 0.02, OR = 2.06). There was also a statistically significant difference between the control group and the patients with respect to the allele frequencies (p = 0.04, OR = 1.65). For the IFN-γ (+874) A/T polymorphism, 69 SSPE patients and 115 controls were studied and there was not a significant difference between the two groups. Our findings suggested that not the IFN-γ (+874) A/T but the IL-12 (-1188) A/C polymorphism is correlated with SSPE and having an AA genotype or A allele decreases the risk of developing SSPE by 2.06- and 1.65-fold, respectively.


Asunto(s)
Genotipo , Interferón gamma/genética , Interleucina-12/genética , Virus del Sarampión/patogenicidad , Polimorfismo de Nucleótido Simple , Panencefalitis Esclerosante Subaguda/genética , Alelos , Estudios de Casos y Controles , Expresión Génica , Frecuencia de los Genes , Humanos , Interferón gamma/inmunología , Interleucina-12/inmunología , Virus del Sarampión/inmunología , Regiones Promotoras Genéticas , Factores Protectores , Panencefalitis Esclerosante Subaguda/inmunología , Panencefalitis Esclerosante Subaguda/patología , Panencefalitis Esclerosante Subaguda/virología
17.
J Child Neurol ; 31(7): 824-30, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26738921

RESUMEN

OBJECTIVE: The aim of this study was to evaluate the executive function of patients with typical absence epilepsy. METHODS: Thirty-eight (19 healthy children and 19 patients) individuals were enrolled in this study. Neurocognitive function tests, such as the Serial Digit Learning Test, Wisconsin Card Sorting Test, Visual Aural Digit Span Test-Form B, KAS-Animal Test, Trail Making Test-A Time Test, and STROOP Test, were given to all of the participants. RESULTS: There was a significant difference between the groups on the Serial Digit Learning Test (P = .037) and on a subtest of the Wisconsin Card Sorting Test. As for the Wisconsin Card Sorting Test performance, there were significant differences in perseverative errors and perseverative responses between the patient and control groups (P = .011 and P = .010, respectively). CONCLUSION: Long-term risk for learning impairments, failure in executive abilities, and short-term memory and attention disorders can occur in children with absence epilepsy.


Asunto(s)
Epilepsia Tipo Ausencia/psicología , Función Ejecutiva , Encéfalo/fisiopatología , Niño , Estudios Transversales , Electroencefalografía , Epilepsia Tipo Ausencia/tratamiento farmacológico , Epilepsia Tipo Ausencia/fisiopatología , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Estudios Retrospectivos , Riesgo , Método Simple Ciego
18.
J Child Neurol ; 31(2): 134-7, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25953826

RESUMEN

Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment. Heart rate variability analysis found lower heart rate variability parameters in patients with infantile spasm at the onset of the syndrome, prior to treatment with ACTH. The time domain parameters of heart rate variability values showed a statistically significant increase following ACTH treatment. Our data suggest that patients with infantile spasm exhibit lower heart rate variability parameters, and the treatment of spasms with ACTH and B6 together diminished the autonomic dysfunction in our cohort.


Asunto(s)
Hormona Adrenocorticotrópica/uso terapéutico , Anticonvulsivantes/uso terapéutico , Enfermedades del Sistema Nervioso Autónomo/tratamiento farmacológico , Cardiopatías/tratamiento farmacológico , Frecuencia Cardíaca/efectos de los fármacos , Espasmos Infantiles/tratamiento farmacológico , Enfermedades del Sistema Nervioso Autónomo/complicaciones , Enfermedades del Sistema Nervioso Autónomo/fisiopatología , Preescolar , Femenino , Cardiopatías/complicaciones , Cardiopatías/fisiopatología , Humanos , Lactante , Masculino , Espasmos Infantiles/complicaciones , Espasmos Infantiles/fisiopatología , Resultado del Tratamiento
19.
Acta Clin Croat ; 54(3): 371-7, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26666111

RESUMEN

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated monophasic inflammatory demyelinating disorder of the central nervous system which poses a diagnostic challenge. We report on six cases of different etiologies that mimicked the clinical and radiologic findings of ADEM. The cases were collected from four different reference hospitals in Turkey. The same radiologist from the Akdeniz University Faculty of Medicine examined the magnetic resonance images of all patients. Three (50%) patients had antecedent infections. Initial symptoms of the patients were as follows: fever in 50%, altered consciousness in 33.3% and convulsions in 16.7% of patients. Neurologic examination showed long tract signs in 83.3%, ataxia in 50% and altered consciousness in 50% of patients. Cerebrospinal fluid examination revealed lymphocytic pleocytosis only in case 6. Four patients received steroid pulse therapy and one of these initially underwent intravenous immunoglobulin therapy. The patients' definitive diagnoses were as follows: paraspinal neuroblastoma-associated paraneoplastic syndrome; histiocytic sarcoma; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in one patient each, while two patients had hemophagocytic syndrome. The present case series demonstrated difficulties in diagnosing ADEM while revealing extremely rare disorders that mimic ADEM radiologically and clinically.


Asunto(s)
CADASIL/diagnóstico , Encefalomielitis Aguda Diseminada/diagnóstico , Sarcoma Histiocítico/diagnóstico , Linfohistiocitosis Hemofagocítica/diagnóstico , Síndrome MELAS/diagnóstico , Neuroblastoma/diagnóstico , Síndromes Paraneoplásicos del Sistema Nervioso/diagnóstico , Neoplasias de la Médula Espinal/diagnóstico , Adolescente , Ataxia/etiología , CADASIL/complicaciones , Niño , Preescolar , Diagnóstico Diferencial , Encefalomielitis Aguda Diseminada/complicaciones , Femenino , Fiebre/etiología , Sarcoma Histiocítico/complicaciones , Humanos , Linfohistiocitosis Hemofagocítica/complicaciones , Síndrome MELAS/complicaciones , Imagen por Resonancia Magnética , Masculino , Neuroblastoma/complicaciones , Examen Neurológico , Síndromes Paraneoplásicos del Sistema Nervioso/etiología , Convulsiones/etiología , Neoplasias de la Médula Espinal/complicaciones , Turquía
20.
Clin Neurol Neurosurg ; 126: 99-102, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25233492

RESUMEN

Hemangiomas in the spinal epidural area are very rare lesions, and most of these lesions are of the cavernous type. Only seven cases of capillary hemangiomas have been reported in the English literature, and all of these cases occurred in adulthood. Here, we report on a 17-month-old girl who presented with an inability to walk. MRI revealed an epidural mass, which was diagnosed as an epidural capillary hemangioma in the thoracic region. To our best knowledge, this case is the first epidural capillary hemangioma case to occur in childhood that has been reported.


Asunto(s)
Neoplasias Epidurales/patología , Hemangioma Capilar/patología , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad
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