RESUMO
Vitamin B12 begins to accumulate in infants within the first six months while mothers often remain asymptomatic and infantile vitamin B12 deficiency may not be noticed until the onset of neurological effects. In infants with Cbl deficiency, long-term exposure to elevated methylmalonic acid and homocysteine (MMA-HC) may have toxic effects on the central nervous system. The aim of this study was to evaluate cranial magnetic resonance (MRI) findings of 23 hypotonic infants that were followed up with a diagnosis of nutritional Cbl deficiency and combined MMA-HC. Of the 78 infants that presented with hypotonicity, 23 (29.4%) infants were detected with vitamin B12 deficiency. Elevated MMA-HC levels were detected in all patients (100%). Cranial MRI showed cortical atrophy in 6 (26.0%)-large sylvian fissures in 7 (30.4%)-ventricular dilatation in 5 (21.7%)-corpuscallosal thinning in 6 (26.0%)-delayed myelination in 3 (13%), and normal in 8 (34.7%) infants.Infants detected with corpus callosal thinning and cortical atrophy on MRI. Vitamin B12 deficiency is a treatable condition, it should be suspected in infants presenting with hypotonicity. Neuroradiological findings should be considered in the diagnosis of such patients. Infantile nutritional vitamin B12 deficiency, which can be a source of persistent neurological deficits during the long term, should be treated to allow the patient to allow healthy neuro-development for infants. Maternal and fetal vitamin B12 levels should be assessed during the third trimester of pregnancy to prevent long-term exposure to infantile vitamin B12 deficiency.
Assuntos
Homocistinúria , Deficiência de Vitamina B 12 , Erros Inatos do Metabolismo dos Aminoácidos , Feminino , Homocistinúria/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética , Gravidez , Vitamina B 12 , Deficiência de Vitamina B 12/diagnósticoRESUMO
BACKGROUND: Breath-holding spells (BHS) are common non-paroxysmal events with unknown pathophysiology. BHS have been associated not only with iron deficiency anemia (IDA) but also with oxidant/antioxidant imbalance and erythrocyte injury induced by hypoxia. The present study was designed to investigate the contribution of IDA in BHS and the oxidant/antioxidant balance in children with or without IDA in BHS and compare them with healthy controls.Additionally, the study also aimed to examine the effect of the frequency of BHS attacks (mild or severe) on the oxidant/antioxidant balance and to determine the best predictive oxidant and antioxidant markers. MATERIALS AND METHODS: The study included 66 children with BHS aged 6-48 months who had been followed up for a minimum period of one year between 2014 and 2018. A control group of 30 age- and gender-matched healthy children was included in the study. The patient group was divided into 2 groups (IDA and non-IDA) and these groups were compared between each other and also with the control group. The IDA group was divided into subgroups based on the frequency of BHS attacks. Blood samples were obtained within a maximum period of 24 h following the spell. Levels of protein carbonyl, nitrite, nitrate, TOS, TAS, OSI, MDA, enzyme activities of GPx, CAT,enzyme activities of erythrocyte SOD, CAT, and GPx, and the level of MDA were measured. RESULTS: In patients with IDA, the oxidant levels increased while the antioxidant enzyme activities decreased. In all patients, the levels of MDA, carbonyl, TOS, OSI increased and the levels of TAS, activities SOD, and CAT decreased, whereas the enzyme activities of erythrocyte SOD, CAT, GPx decreased significantly compared to those of control group. Increased of erythrocyte MDA levels had 10.32, decreased enzyme activities of erythrocyte SOD levels had a 10.25, and decreased enzyme activities of erythrocyte CAT had a 5.33 times greater risk for spell. CONCLUSION: The results indicated that the oxidant/antioxidant balance in children with BHS was impaired in favor of oxidants at both levels, regardless of the presence of IDA and the increased frequency of BHS attacks per day. Moreover, the presence of IDA was found to be associated with increased oxidative stress in children with BHS, particularly at the erythrocyte level. Erythrocyte level; among the erythrocyte MDA oxidant parameters, erythrocyte SOD and antioxidant parameters, they are the biomarkers that show the best probability of having a BHS attack and an increase in the frequency of apnea attacks.
Assuntos
Anemia Ferropriva , Estresse Oxidativo , Anemia Ferropriva/diagnóstico , Antioxidantes , Biomarcadores , Criança , Eritrócitos , HumanosRESUMO
BACKGROUND: Coronavirus disease 2019 (COVID-19) usually leads to a mild infectious disease course in children, while serious complications may occur in conjunction with both acute infection and neurological symptoms, which have been predominantly reported in adults. The neurological complications in these patients vary based on patient age and underlying comorbidities. Data on clinical features, particularly neurological features, and prognostic factors in children and adolescents are limited. This study provides a concise overview of neurological complications in pediatric COVID-19 cases. MATERIALS AND METHODS: The retrospective study reviewed medical records of all patients who were admitted to our hospital and were diagnosed with COVID-19 by real-time reverse-transcription polymerase-chain-reaction (RT-PCR) assay between 11 March 2020 and 30 January 2021. Patients with a positive PCR result were categorized into two groups: outpatient departments patients and inpatient departments (IPD). RESULTS: Of the 2530 children who underwent RT-PCR during the study period, 382 (8.6%) were confirmed as COVID-19 positive, comprising 188 (49.2%) girls and 194 (50.8%) boys with a mean age of 7.14±5.84 (range, 0-17) years. Neurological complications that required hospitalization were present in 34 (8.9%) patients, including seizure (52.9%), headache (38.2%), dizziness (11.1%) and meningoencephalitis (5.8%). CONCLUSION: The results indicated that neurological manifestations are not rare in children suffering from COVID-19. Seizures, headaches, dizziness, anosmia, ageusia and meningoencephalitis are major neurological manifestations during acute COVID-19 disease. Although seizures were the most common cause of hospitalization in IPD patients, the frequency of meningoencephalitis was quite high. Seizures were observed as febrile seizures for children under 6 years of age and afebrile seizures for those over 6 years of age. Febrile seizure accounted for half of all seizure children.
Assuntos
COVID-19 , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Cefaleia/epidemiologia , Cefaleia/etiologia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , SARS-CoV-2 , Convulsões/epidemiologia , Convulsões/etiologiaRESUMO
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings. The diagnosis depends on the presentation of increased levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluids. Patients with L2HGA have an increased risk for the development of cerebral neoplasms which, though rarely, can be the initial presentation of the disease. Moreover, patients with L2HGA have an increased risk for the development of cerebral neoplasms. CASES PRESENTATION: Although psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings are the most common characteristics of the disease, we present two rare cases admitted with tumoral symptoms. CONCLUSION: Patients with L2HGA have an increased risk for the development of cerebral neoplasms.
Assuntos
Encefalopatias Metabólicas Congênitas , Deficiência Intelectual , Megalencefalia , Neoplasias , Encefalopatias Metabólicas Congênitas/complicações , Encefalopatias Metabólicas Congênitas/diagnóstico por imagem , Humanos , Imageamento por Ressonância MagnéticaRESUMO
OBJECTIVE: To investigate the potential toxic effects of levetiracetam monotherapy on ocular tissues in cases of pediatric epilepsy using optical coherence tomography (OCT). METHODS: Thirty epileptic children (group 1) receiving levetiracetam monotherapy at a dosage of 20-40 mg/kg/day for at least 1 year with a first diagnosis of epilepsy and 30 age- and gender-matched healthy children (group 2) were included in the study. In addition to a detailed eye examination, peripapillary retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, foveal thickness (FT), and central corneal thickness (CCT) were measured in all children by means of spectral domain OCT. The data obtained from the two groups were then subjected to statistical analysis. RESULTS: The mean age of both groups was 12 ± 3.64 years [1-12]. The mean duration of levetiracetam in group 1 was 24.07 ± 12.82 months. Mean RNFL values in groups 1 and 2 were 106.1 ± 10.42 and 104.98 ± 10.04 µm, mean GCC values were 94.72 ± 6.26 and 94.4 ± 6 µm, mean FT values were 240.73 ± 17.94 and 240.77 ± 15.97 µm, and mean CCT values were 555.1 ± 44.88 and 540.97 ± 32.65 µm, respectively. No significant difference was determined between the two groups in terms of any parameter. Best corrected visual acuity values of the subjects in both groups were 10/10, and no color vision or visual field deficit was determined. CONCLUSION: Levetiracetam monotherapy causes no significant function or morphological change in ocular tissues in pediatric epilepsies.
Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/diagnóstico por imagem , Epilepsia/tratamento farmacológico , Levetiracetam/efeitos adversos , Disco Óptico/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Disco Óptico/efeitos dos fármacos , Retina/diagnóstico por imagem , Retina/efeitos dos fármacos , Método Simples-CegoRESUMO
OBJECTIVES: The aim of the study was to assess seasonal prevalence of vitamin D deficiency according to sex and to determine the relations between serum levels of 25-hydroxyvitamin D [25(OH)D] and parathyroid hormone (PTH) and sociodemographic characteristics in otherwise healthy schoolchildren during spring and autumn. METHODS: In a cross-sectional study, 746 healthy students aged between 11 and 18 years were recruited during spring (n = 375) and autumn (n = 371). Sociodemographic data were collected by a questionnaire. Serum 25(OH)D, PTH, calcium, phosphate, and alkaline phosphatase were measured. Serum 25(OH)D levels were categorized as <50 nmol/L (vitamin D deficiency) and <25 nmol/L (severe deficiency). RESULTS: Mean ± standard deviation 25(OH)D levels were 22.3 ± 10.5 nmol/L in girls and 28.5 ± 17.0 nmol/L in boys during spring (P < 0.001) and 36.5 ± 20.3 nmol/L in girls and 45.0 ± 18.5 nmol/L in boys during autumn (P < 0.001). The prevalence of vitamin D deficiency was 93% during spring and 71% during autumn. There was a negative correlation between 25(OH)D and PTH levels (P < 0.01). We determined a cutoff point of serum 25(OH)D in which the mean serum PTH concentration began to increase as 35.8 nmol/L (P < 0.0001). The age, sex, and calcium level were found to be independent predictors for vitamin D deficiency. CONCLUSIONS: Vitamin D deficiency is prevalent among healthy schoolchildren. It is noteworthy that 25(OH)D levels were significantly lower in girls and during autumn. We recommend vitamin D supplementation for children in addition to more time spent for outdoor activities for sensible sunlight exposure.
Assuntos
Hormônio Paratireóideo/sangue , Estações do Ano , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Adolescente , Criança , Estudos Transversais , Suplementos Nutricionais , Exercício Físico , Feminino , Humanos , Masculino , Fatores Sexuais , Luz Solar , Inquéritos e Questionários , Vitamina D/administração & dosagem , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/prevenção & controleRESUMO
BACKGROUND: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings. METHODS: In this multicenter study, the study cohort consisted of 604 children with self-limited epilepsy with centrotemporal spikes. A data set of epilepsy centers follow-up between 2010 and 2022. The cohort was divided into 4 groups as those receiving 3 different monotherapy (carbamazepine [CBZ]/valproic acid [VPA]/levetiracetam [LEV]) and dual therapy. SWI analysis was performed with the percent of spikes in the 2-minute epoch in the 5th 6th minutes of the nonrapid eye movement sleep EEG record. The study group were also categorized according to seizure burden with seizure frequency (I) >2 seizures and (II) >5 seizures. Seizure outcome was evaluated based on the reduction in seizure frequency over 6-month periods: (1) 50% reduction and (2) seizure-free (complete response). RESULTS: ASM monotherapy was achieved in 74.5% children with VPA, CBZ, and LEV with similar rates of 85.8%, 85.7%, and 77.9%. Dual therapy was need in the 25.5% of children with SeLECT. More dual therapy was administered in children aged below 5 years with a rate of 46.2%. Earlier seizure-free achievement time was seen in children with LEV monotherapy with more complete-response rate (86.7%) compared the VPA and CBZ. CONCLUSIONS: We also determined that the children on dual therapy had more SWI clearance in the subsequent EEG recordings. The ROC curve analyses were performed to predict initial drug selection with using the SWI% might be used for the prediction of ASM type and drug selection in children.
Assuntos
Epilepsia , Criança , Humanos , Epilepsia/tratamento farmacológico , Levetiracetam/uso terapêutico , Convulsões/tratamento farmacológico , Ácido Valproico , Carbamazepina/uso terapêutico , Eletroencefalografia , Benzodiazepinas , Resposta Patológica Completa , Anticonvulsivantes/uso terapêuticoRESUMO
We aimed to determine the morphological and histological effects of zonisamide, sultiam, lacosamide, clobazam, and rufinamide on ovarian folliculogenesis in rats. Sixty female Wistar rats were divided into six experimental groups as control, zonisamide, sultiam, lacosamide, clobazam, and rufinamide groups; control solution and drugs were administered by gavage for 90 days. The number of healthy follicles in the control group was significantly higher than in the anti-medication groups (p < 0.001), and the number of corpus luteum was significantly lower (p < 0.001). There was a significant difference in the number of TUNEL positive apoptotic follicles between the control and drug groups (p < 0.001). With EGF, IGF-1, and GDF-9 staining, a very strong immunoreaction was observed in the ovarian multilaminar primary follicle granulosa cells and oocytes in the control group compared to the drug group (p < 0.001). Long-term anti-seizure medication with zonisamide, sultiam, lacosamide, clobazam, and rufinamide from prepubertal to adulthood causes apoptosis and disruption of folliculogenesis in the ovarian follicles of nonepileptic rats.
Assuntos
Clobazam , Animais , Feminino , Lacosamida/uso terapêutico , Ratos , Ratos Wistar , Tiazinas , Triazóis , Zonisamida/uso terapêuticoRESUMO
OBJECTIVE: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. METHODS: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment. The long-term effectiveness of the drug, overall seizure outcomes, and overall therapeutic outcomes were evaluated during 12 months of therapy. RESULTS: Analysis of initial efficacy after the first three months of clobazam therapy showed that 320 (18.7 %) patients were seizure-free, 683 (39.9 %) had > 50 % seizure reductions, and 297 (17.4 %) had < 50 % seizure reductions. A positive response (seizure-free and >50 % seizure reduction) was determined for focal-onset (62.3 %) seizures, epileptic spasms (61.5 %), and generalized onset seisures (57.4). The highest positive response rate among the epileptic syndromes was for self-limited epilepsy with centrotemporal spikes (SeLECTS). The highest negative response rate was for developmental and/or epileptic encephalopathies (DEEs). Magnetic resonance imaging (MRI) revealed a structural etiological diagnosis in 25.8 % of the cohort. A higher positive response rate was observed at MRI in patients with sequelae lesions than in those with congenital lesions. The seizure recurrence rate was higher in the patient group with epilepsy with genetic and metabolic causes, in individuals with more than one seizure type, and in those using three or more antiseizure drugs. CONCLUSIONS: This cohort study provides additional evidence that clobazam is an effective and well-tolerable drug with a high seizure-free rate (18.7 %), a significant seizure reduction rate (57.3 %), and with excellent overall therapeutic outcomes with a low seizure relapse rate and considerable reversible benefits in the pediatric population.
Assuntos
Epilepsia , Espasmos Infantis , Anticonvulsivantes/efeitos adversos , Criança , Clobazam/uso terapêutico , Estudos de Coortes , Epilepsia/diagnóstico , Humanos , Estudos Retrospectivos , Convulsões/induzido quimicamente , Convulsões/tratamento farmacológico , Espasmos Infantis/diagnóstico , Resultado do TratamentoRESUMO
BACKGROUND: Abnormal movements such as tremors and myoclonus may be observed during both treatment and deficiency of vitamin B12, particularly in infants. Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair. CASE: In this report, two cases with ITS aged less than one year who had myoclonic movements during vitamin peroral B12 treatment are discussed based on hematologic, neurological, and magnetic resonance images (MRI) findings, one of whom developed a whole-body tremor and rhythmic myoclonic movements, titubation, and restlessness in the hands and feet as well as diffuse cerebral atrophy on brain MRI. CONCLUSION: The infants of mothers with nutritional vitamin B12 deficiency may develop sudden abnormal movements following peroral vitamin B12 therapy and that the differential diagnosis of these disorders is highly important for the prevention of long-term neurological sequela by treatment.
Assuntos
Mioclonia , Deficiência de Vitamina B 12 , Feminino , Humanos , Lactente , Mães , Tremor/induzido quimicamente , Tremor/diagnóstico , Vitamina B 12 , Deficiência de Vitamina B 12/induzido quimicamente , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnósticoRESUMO
AIM: Our aim was to perform the Turkish-language adaptation of a practical ataxia rating scale for children. METHODS: The Brief Ataxia Rating Scale was subjected to cultural adaptation following receipt of the requisite permissions. Thirty-six children aged 4-18 years followed-up with a diagnosis of ataxia were included in the study. Evaluation of each child was recorded on video. The video recordings were scored independently by nine observers (four physiotherapists, one pediatric neurologist, and four pediatricians). Intra-rater reliability was tested by the same video images being scored twice, at 15-day intervals, by a pediatric neurologist. Intraclass correlation coefficients were used for inter-rater and intra-rater reliability. The Scale for the Assessment and Rating of Ataxia was used for concurrent validity. RESULTS: Good to excellent reliability was determined among the nine observers in terms of total scores with the intraclass correlation coefficient among the nine observers (intraclass correlation coefficient = 0.926; 95% CI: 0.885-0.956). Intra-rater reliability analysis results exhibited strong reliability in terms of scores elicited at two-week intervals (intraclass correlation coefficient = 0.967; 95% CI: 0.890-0.987, r = 0.97, p < 0.001). At concurrent validity analysis, a strong relation was determined between total Scale of the Assessment and Rating of Ataxia score and total Brief Ataxia Rating Scale score (r = 0.942, p < 0.001). CONCLUSION: The Turkish-language adaptation of the Brief Ataxia Rating Scale is reliable and valid for application in children.Implications for RehabilitationThis study shows the reliability and validity of the Turkish language adaptation of brief ataxia rating scale in children.The scale being both practical and easily applicable to ataxic children will contribute to broadening its use in the pediatric age group in particular.
Assuntos
Ataxia , Idioma , Adaptação Fisiológica , Ataxia/diagnóstico , Criança , Humanos , Reprodutibilidade dos TestesRESUMO
OBJECTIVES: The purpose of this study was to report the efficacy of intravenous amiodarone alone or in combination with digoxin in neonates and small infants with life-threatening supraventricular tachyarrhythmia (SVT). METHODS: We retrospectively analyzed 9 neonates and small infants with life-threatening or resistant SVT who were treated with intravenous amiodarone alone or in combination with digoxin. RESULTS: This report consists of 8 patients with reentrant SVT and 1 with atrial flutter. On admission, 7 patients had a congestive heart failure and 3 of whom had cardiovascular collapse. Intravenous rapid bolus of adenosine caused a sustained sinus rhythm in 4 patients. These patients were given digoxin initially, but recurrence of persistent tachyarrhythmia necessitated the use of intravenous amiodarone in all these patients. Amiodarone was given initially to the other 4 patients in whom adenosine caused only temporary conversion to the sinus rhythm. It was effective in 2 patients. In the other 2, digoxin was added to therapy for tachycardia control. Amiodarone alone or in combination with digoxin effectively controlled reentrant SVT in all patients. This combined treatment caused ventricular rate control in patient with atrial flutter, and conversion to the stable sinus rhythm was achieved at approximately 8 months. CONCLUSIONS: Intravenous amiodarone alone or in combination with digoxin was found to be safe and effective in controlling refractory and life-threatening SVT in neonates and small infants.
Assuntos
Amiodarona/uso terapêutico , Antiarrítmicos/uso terapêutico , Digoxina/uso terapêutico , Taquicardia Supraventricular/tratamento farmacológico , Adenosina/uso terapêutico , Amiodarona/administração & dosagem , Amiodarona/efeitos adversos , Amiodarona/farmacologia , Antiarrítmicos/administração & dosagem , Antiarrítmicos/efeitos adversos , Antiarrítmicos/farmacologia , Flutter Atrial/tratamento farmacológico , Flutter Atrial/etiologia , Digoxina/administração & dosagem , Digoxina/farmacologia , Avaliação de Medicamentos , Quimioterapia Combinada , Eletrocardiografia Ambulatorial , Feminino , Seguimentos , Cardiopatias Congênitas/complicações , Insuficiência Cardíaca/complicações , Neoplasias Cardíacas/complicações , Frequência Cardíaca/efeitos dos fármacos , Humanos , Hipotensão/induzido quimicamente , Lactente , Recém-Nascido , Infusões Intravenosas , Injeções Intravenosas , Masculino , Estudos Retrospectivos , Rabdomioma/complicações , Choque Cardiogênico/complicações , Taquicardia Supraventricular/etiologia , Tireotropina/sangue , Resultado do TratamentoRESUMO
INTRODUCTION: Fluid intake was reported to reduce migraine attacks. This may be due to its effect on hemoconcentration. Hemoconcentration may manifest itself by increasing in the hemoglobin and platelet-related values. This study aimed to reveal hemoconcentration by evaluating complete blood cell counts in attack-free periods of pediatric patients with migraine. MATERIALS AND METHODS: Consecutive children with migraine (n = 70) and tension-type headache (TTH) (n = 65) were compared with the control groups. Control 1 (n = 70) and control 2 (n = 60) groups consisted of age- and gender-matched patients, respectively. Control 2 group patients had gastrointestinal symptoms leading to fluid loss, which may have caused hemoconcentration. To evaluate hemoglobin and platelets together, the M1-value was created by multiplying hemoglobin level by plateletcrit. RESULTS: The M1-value was higher in the migraine group than in control 1 and TTH groups (P = 0.017 and 0.034) and the hemoglobin and hematocrit levels were also higher in the migraine group than in control 2 group (P = 0.013 and 0.012). Female patients with migraine had higher hemoglobin levels as compared to the female patients in control group 1 (P = 0.041). Male patients with migraine had higher M1-values than the male patients in control group 1 (P = 0.034). In the subgroup of migraine with aura (n = 10), folic acid was significantly lower than the other patients with migraine (P = 0.02). CONCLUSION: This study suggests that migraine may be accompanied with hemoconcentration in children.
RESUMO
BACKGROUND: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations; however, it is often associated with gastrointestinal surgical procedures, recurrent vomiting, chronic diarrhea, cancer and chemotherapy treatment, systemic diseases, drugs, magnesium deficiency, and malnutrition in children. Although these predisposing factors are considered to be uncommon in children, they are actually highly frequent and can be fatal if not treated promptly. CASE: In this report, we present a patient who developed diplopia during total parenteral nutrition following surgical resection and was diagnosed with WE. The findings of the patient's cranial magnetic resonance imaging (MRI) findings were consistent with those of WE and the ocular findings of the patient resolved completely after thiamine treatment. CONCLUSION: Although WE is rare in children it can be prevented by early diagnosis and treatment and oculomotor findings such as diplopia can be a warning sign.
Assuntos
Doença de Hirschsprung , Deficiência de Tiamina , Encefalopatia de Wernicke , Adulto , Criança , Diplopia , Humanos , Imageamento por Ressonância Magnética , Tiamina , Encefalopatia de Wernicke/diagnóstico , Encefalopatia de Wernicke/etiologiaRESUMO
The purpose of this study was to compare HMGB-1, TLR4, IL-1ß, IL-1R1, and TNF-α levels in patients with mild and severe epilepsy with those in a healthy control group. Children aged 4-17 years, diagnosed with epilepsy for at least three years and with no progressive neurological disease, metabolic disease or infection, were selected for the study. The severe epilepsy group consisted of 28 children with at least one episode a week despite receiving three or more antiepileptic drugs. The mild epilepsy group consisted of 29 children with no seizures in the previous year, receiving only one antiepileptic drug, while 27 healthy children were selected as the control group. HMGB-1, TLR4, IL-1R1, TNF-α and IL-1ß levels were investigated in these three groups. The MRI findings and clinical characteristics of the patients in the epilepsy group were also compared with these markers. HMGB-1, TLR4, TNF-α, and IL-1ß levels in the severe epilepsy group were higher than in the control group and the mild epilepsy group (p<0.05), and were higher in the mild epilepsy group than in the control group (p<0.05). IL-1R1 was also higher in the severe epilepsy group than in the control group (p<0.05). In this first report to identity a possible correlation between HMGB-1, TLR4, IL-1ß, IL-1R1, and TNF-α levels and severity of epilepsy, our data demonstrates that the serum level of these cytokines is higher in cases of drug-refractory epilepsy.
Assuntos
Epilepsia/sangue , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Proteína HMGB1/sangue , Inflamação/sangue , Interleucina-1beta/sangue , Receptor 4 Toll-Like/sangue , Fator de Necrose Tumoral alfa/sangue , Adolescente , Biomarcadores/sangue , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/sangue , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/fisiopatologia , Feminino , Humanos , Masculino , Índice de Gravidade de DoençaRESUMO
OBJECTIVES: The hippocampus is susceptible to damage in patients with epilepsy and in animals with seizures caused by excitotoxic agents. The effect of vitamin D on hippocampal apoptosis related with seizures has not been reported. However, epileptic patients have an increased risk of hypovitaminosis D which is most likely due to the effects of antiepileptic drugs. Therefore, in this study, it was aimed to evaluate the effects of vitamin D on hippocampal apoptosis related with seizures by using pentylenetetrazol (PTZ) and kainic acid (KA) in rats. METHODS: Male Sprague Dawley rats, aged 5.5 weeks, were randomly divided into six groups: control, vitamin D, PTZ, KA, PTZ + vitamin D and KA + vitamin D groups. The groups that received vitamin D were given 500 IU/kg of vitamin D daily for two weeks in addition to a standard diet. At the end of this period, PTZ and KA were applied to trigger seizures in the rats in the seizure groups. 24 h after the administration of PTZ and KA, the rats were decapitated. In the hippocampal region, apoptosis was assessed by TUNEL and brain-derived neurotrophic factor (BDNF), Bax, caspase-3 and c-fos activation were evaluated by immunohistochemical method. RESULTS: BDNF level increased while c-fos, Bax and caspase-3 levels decreased (p < 0.0001, in all) in the hippocampal neurons of the groups that were pre-treated with vitamin D before the administration of PTZ and KA, in comparison with the PTZ and KA groups. Vitamin D significantly decreased the number of apoptotic cells in these rats in comparison with the PTZ and KA groups (p < 0.0001). CONCLUSION: This study indicates that vitamin D has neuroprotective effects on hippocampal apoptosis induced by PTZ and KA in rats. With this study it is suggested that keeping vitamin D levels within normal limits may be beneficial for patients with epilepsy, especially children.
Assuntos
Apoptose/efeitos dos fármacos , Hipocampo/patologia , Neurônios/efeitos dos fármacos , Fármacos Neuroprotetores/uso terapêutico , Convulsões/patologia , Vitamina D/uso terapêutico , Animais , Fator Neurotrófico Derivado do Encéfalo/metabolismo , Caspase 3/metabolismo , Convulsivantes/toxicidade , Modelos Animais de Doenças , Marcação In Situ das Extremidades Cortadas , Ácido Caínico/toxicidade , Masculino , Fármacos Neuroprotetores/farmacologia , Pentilenotetrazol/toxicidade , Proteínas Proto-Oncogênicas c-fos/metabolismo , Ratos , Ratos Sprague-Dawley , Convulsões/induzido quimicamente , Convulsões/tratamento farmacológico , Proteína X Associada a bcl-2/metabolismoRESUMO
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous blisters and gastric outlet obstruction. Most of the mutations in JEP-PA are associated with the α6ß4 integrin genes (ITGA6, ITGB4,). Herein, we present a female newborn with lethal JEB-PA caused by a novel beta4 integrin mutation.
Assuntos
Displasia Ectodérmica/genética , Integrina beta4/genética , Mutação , Piloro/anormalidades , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/cirurgia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Linhagem , Piloro/cirurgiaRESUMO
Tricyclic antidepressant (TCA) overdose is one of the common causes of drug poisoning and it has cardiovascular, respiratory and neurological side effects. An 18-month male infant was admitted to our pediatric emergency service due to poisoning with amitriptyline. The infant was unconscious. Tachycardia, irregular and shallow breathing, and tonic-clonic seizures were observed on physical examination. An electrocardiogram displayed a narrow complex tachycardia that was consistent with re-entrant supraventricular tachycardia (SVT). Although antiarrhythmic and anticonvulsive agents were administrated, SVT and seizures persisted. Charcoal hemoperfusion (HP) was performed for 4 hours. The infant's clinical condition has improved after the charcoal HP, seizures and SVT were not observed. It is concluded that charcoal HP can be used efficiently in patients with severe amitriptyline intoxication.