Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 40
Filtrar
1.
J Comput Assist Tomogr ; 45(2): 294-299, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33661154

RESUMO

OBJECTIVE: To determine whether there is a difference between healthy control group and children with neurofibromatosis type 1 (NF1) in terms of apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values in different regions of the brain associated with neurocognitive functions and to investigate the correlation between diffusion tensor imaging parameters and neurocognitive dysfunctions. METHODS: The study included 28 children with NF1 and 21 controls. Nine distinct areas related to cognitive functions were selected for the analysis. The ADC and FA values were compared. RESULTS: There was a significant difference between NF1 and healthy control in terms of ADC values obtained from all areas. The ADC values at obtained from thalamus and striatum were positively correlated with the full-scale intelligence quotient (IQ), verbal IQ, and performance IQ. CONCLUSIONS: We are speculated that the development of microstructural damage in the thalamostriatal pathway may lead to neurocognitive dysfunction.


Assuntos
Disfunção Cognitiva/diagnóstico por imagem , Corpo Estriado/diagnóstico por imagem , Imagem de Tensor de Difusão , Neurofibromatose 1/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Adolescente , Estudos de Casos e Controles , Criança , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/fisiopatologia , Corpo Estriado/fisiopatologia , Feminino , Humanos , Masculino , Neurofibromatose 1/complicações , Neurofibromatose 1/fisiopatologia , Tálamo/fisiopatologia
2.
Klin Padiatr ; 233(1): 24-30, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33124020

RESUMO

AIM: Reports describing coronavirus disease 2019 (Covid-19) in children are fewer than adult studies due to milder clinical picture. We aimed to share our experience at a single center with an emphasis on collective decision making. MATERIALS AND METHODS: A suspected case was defined as the presence of symptoms suggestive of COVID-19 and/or positive contact history. SARS-CoV-2 PCR positive patients were defined as confirmed COVID-19. Between March 12, 2020, and May 15, 2020, all children presenting with fever, cough, or respiratory difficulty were investigated for COVID-19. A total of 719 children were examined at outpatient clinics, and 495 were tested with polymerase chain reaction (PCR) for suspicion of COVID-19. A team was organized for monitoring and treating patients either as outpatients or hospitalization. Patients were evaluated in terms of age, gender, travel history, epidemiological history, clinical symptoms and signs, laboratory and radiological findings, treatment, and outcome. RESULTS: Sixty patients were hospitalized for suspicion of COVID-19. Forty-three patients were diagnosed as probable or confirmed COVID-19. 21 of 43 patients (48.8%) were PCR confirmed. The remaining 22 were diagnosed by epidemiologic history, clinical assessment, and computerized thorax tomography (CT) findings. The median age was 126 and 78.5 months in PCR positives and PCR negatives, respectively and the youngest patient was a 28 days old baby. Nineteen of the patients had an upper respiratory infection (44.1%). Although five patients had no clinical signs, chest X-ray, or CT revealed pneumonia. CONCLUSIONS: As previously reported, the clinical manifestations of COVID-19 in children are mostly mild. Even very young kids can become infected following exposure to sick family members. International and local guidelines are valuable for decision making since it is a new disease. A combination of chest disease, infectious diseases, and emergency care physicians approach will aid the appropriate management of cases.


Assuntos
COVID-19 , Pandemias , Criança , Febre , Hospitais , Humanos , Recém-Nascido , SARS-CoV-2
3.
Neuropediatrics ; 51(6): 430-434, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32369837

RESUMO

Biallelic mutations in the TRAPPC12 gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes. We report two patients carrying TRAPPC12 variants, one previously reported and one unknown mutation, with severe neurodevelopmental delay and brain atrophy. Standard clinical examination and cranial imaging studies were performed in these two unrelated patients. In addition, whole-exome sequencing was performed, followed by Sanger sequencing for verification. The first patient, a 2-year-old boy, was found to be homozygous for the previously reported c.1880C > T (p.Ala627Val) mutation. He presented with a phenotype including severe progressive cortical atrophy, moderate cerebellar atrophy, epilepsy, and microcephaly, very similar to the previously reported cases. The second case, a 9-year-old boy, carried a novel homozygous c.679T > G (p.Phe227Val) variant and presented with mild cortical atrophy, severe cerebellar atrophy, and neither clinically manifest epilepsy nor microcephaly, which were previously considered typical findings in PEBAS with TRAPPC12 mutations. Our findings suggest that clinical and brain imaging findings might be more variable than previously anticipated; however, a larger number of observations would benefit for broader phenotypic spectrum.


Assuntos
Encefalopatias/genética , Encefalopatias/patologia , Proteínas de Transporte Vesicular/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encefalopatias/diagnóstico por imagem , Criança , Humanos , Lactente , Masculino , Mutação , Fenótipo
4.
Epilepsy Behav ; 62: 6-11, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27428870

RESUMO

This study investigated the possible presence of sensory-motor developmental impairments in preschool children with epilepsy and explored epilepsy impact on their activities and quality of life and on the stress load of their family. Study participants were children aged 2-6years diagnosed with epilepsy without any other comorbidities (epi-only children). The instruments used for assessment included the Neurological, Sensory, Motor, Developmental Assessment (NSMDA) scale for sensory-motor development, the Impact of Childhood Neurologic Disability Scale (ICNDS), and the Impact of Pediatric Epilepsy Scale (IPES) for disease impact on disability and Quality of Life (QoL), as well as the Pediatric Outcomes Data Collection Instrument (PODCI) for functional health status, and the Parental Stress Scale (PSS) for the family stress load. Required data were obtained from direct testing or observation of children's activities and mother-supplied answers to questions. Eighty-two children were investigated. The NSMDA scores were in the normal development range 6-8. Significant moderate impact of the disease on disability and QoL was estimated with the ICNDS and IPES instruments. The PODCI scores were similar to healthy population levels except for the happiness dimension which was better for children with epilepsy. PSS were significantly above normal. The functional health and QoL of the children as well as their family stress were found to be positively correlated with increasing age. It is found that epilepsy does not degrade neuromotor development and functional health status of preschool epi-only children, though it has a significant impact on their neurological disability and QoL and the stress level of their families; this impact seems to decrease with age.


Assuntos
Epilepsia/psicologia , Pais/psicologia , Qualidade de Vida/psicologia , Estresse Psicológico/psicologia , Fatores Etários , Criança , Pré-Escolar , Feminino , Nível de Saúde , Humanos , Masculino , Inquéritos e Questionários
6.
J Child Neurol ; : 8830738241261110, 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38853672

RESUMO

Background: To investigate whether there is a difference in mean diffusivity (MD) and fractional anisotropy (FA) values in the auditory pathways of neurofibromatosis type 1 patients with and without focal areas of abnormal signal intensity (FASI) compared to healthy controls by using diffusion tensor imaging (DTI). Methods: Patients were classified as group 1 with focal areas of abnormal signal intensity in the brainstem, group 2 without focal areas of abnormal signal intensity, and healthy control group 3 according to the MRI findings. Mean diffusivity and fractional anisotropy values of lateral lemniscus, inferior colliculus, corpus geniculatum mediale, Heschl gyrus, and brainstem were compared between groups. The correlation between mean diffusivity and fractional anisotropy values of auditory pathways and age was investigated. Results: There was a significant difference between group 1 and group 2 in terms of mean diffusivity and fractional anisotropy values at lateral lemniscus, inferior colliculus, corpus geniculatum mediale, and Heschl gyrus. Increased mean diffusivity and decreased fractional anisotropy values at brainstem were found in group 1. There was a significant difference between group 1 and group 3 in terms of mean diffusivity values at all auditory pathways. Fractional anisotropy values obtained from lateral lemniscus, inferior colliculus, and Heschl gyrus decreased in group 1 compared with group 3. There was a negative correlation between mean diffusivity values and positive correlation between fractional anisotropy values at lateral lemniscus, inferior colliculus, Heschl gyrus, and age. Conclusions: Our diffusion tensor imaging findings show that the neuronal integrity of the auditory pathways is affected in neurofibromatosis type 1 patients with brainstem focal areas of abnormal signal intensity. We think that the disappearance of brainstem focal areas of abnormal signal intensity associated with myelin repair and the regression of diffusion tensor imaging changes in the auditory pathways occur simultaneously with advancing age in patients with neurofibromatosis type 1.

7.
Neuropediatrics ; 44(4): 187-90, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23504559

RESUMO

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined. Studies have indicated that specific polymorphisms in certain host genes are probably involved in impairing the ability of host immune cells to eradicate the measles virus in SSPE patients. Programmed cell death protein 1 (PD-1), a member of the CD28 family, is a negative regulator of the immune system. The purpose of our study was to investigate whether PD-1 gene polymorphisms affect susceptibility to the development of SSPE in Turkish children. In total, 109 subjects (54 SSPE patients and 55 healthy controls) were genotyped for the PD-1.9 C/T (rs2227982) single-nucleotide polymorphism (SNP). The distributions of T alleles in the PD-1.9 polymorphism in SSPE patients and healthy controls were 2.8 and 10.9%, respectively. There was a statistically significant difference between the groups; the 95% confidence interval (CI) was 0.06 to 0.85 and the odds ratio (OR) was 0.23 (χ(2) test). Thus, we identified an association between SSPE and the PD-1 rs2227982 gene polymorphism; the frequency of T alleles was higher in controls than in SSPE patients.


Assuntos
Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Receptor de Morte Celular Programada 1/genética , Panencefalite Esclerosante Subaguda/genética , Adolescente , Criança , Eletroencefalografia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Panencefalite Esclerosante Subaguda/diagnóstico
8.
Childs Nerv Syst ; 29(6): 1015-9, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23250250

RESUMO

BACKGROUND: Breath-holding spells (BHS) are the most common form of non-epileptic paroxysmal events in infancy. The pathophysiology of BHS is not fully understood. Iron-deficiency anemia (IDA) may be a factor contributing to breath-holding spells. Although numerous reports have shown that elevated oxidative stress is implicated in the pathophysiology of neurodegenerative diseases and neurological conditions, such as epileptic seizures, brain damage, and neurotrauma, there are no data regarding the role of oxidative stress in the development of BHS. This study aimed to investigate oxidative stress in children with BHS. METHODS: This case-control study was conducted at the Department of Pediatric Neurology, Harran University School of Medicine, Sanliurfa, in Turkey. Blood samples from 31 patients (14 females, 17 males) with BHS which were taken at least 24 h after the BHS attack, and a control group of 35 healthy individuals (13 females, 22 males) were used for the measurement of the plasma total antioxidant capacity, total oxidant status, and oxidative stress index, hemoglobin concentration, serum iron, transferrin saturation and serum ferritin levels. RESULTS: The plasma total antioxidant capacity values were markedly lower and total oxidant status and oxidative stress index values in the BHS group were significantly higher than that in the controls (P ≤ 0.01). CONCLUSION: Our data suggest that the value of oxidative stress was significantly higher in patients with BHS than in the controls. Conditions associated with increased oxidative stress such as IDA may be a risk factor for the development of BHS.


Assuntos
Anemia Ferropriva/sangue , Anemia Ferropriva/complicações , Suspensão da Respiração , Estresse Oxidativo/fisiologia , Transtornos Respiratórios/sangue , Transtornos Respiratórios/etiologia , Antioxidantes/metabolismo , Estudos de Casos e Controles , Pré-Escolar , Feminino , Hemoglobinas/metabolismo , Humanos , Lactente , Masculino , Oxirredução , Turquia
9.
J Pak Med Assoc ; 63(5): 594-7, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23757987

RESUMO

OBJECTIVE: To evaluate the oxidative status following a seizure in children experiencing a simple febrile seizure. METHODS: The cross-sectional study was conducted at Harran University, Turkey, between January and September 2011. It comprised 32 paediatric patients who, within the preceding 8 hours, had experienced a seizure due to upper respiratory tract infection and had been diagnosed with simple febrile seizure, and 30 healthy children as the control group. Blood was taken from the patients 8 hours after the seizure. Total oxidant level and Total anti-oxidant level were measured according to the Erel technique and the oxidative stress index was calculated. Data was analysed using SPSS 11.5. RESULTS: The mean values of the total oxidant level and the oxidative stress index of the cases were found to be significantly high compared to the controls and the total anti-oxidant level was found to be significantly low (p < 0.01, p < 0.01, p < 0.03 respectively). CONCLUSION: The increased total oxidant level and decreased total anti-oxidant level resulting in increased oxidative stress associated with febrile seizure patients may increase the risk of experiencing febrile seizures.


Assuntos
Antioxidantes/metabolismo , Oxidantes/sangue , Convulsões Febris/sangue , Estudos de Casos e Controles , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Otite/complicações , Convulsões Febris/etiologia , Tonsilite/complicações
10.
Am J Emerg Med ; 30(8): 1657.e1-4, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22030191

RESUMO

Intracranial complications of pediatric sinusitis are rare but potentially life threatening. These complications include cavernous sinus thrombosis, orbital infection, meningitis, and subdural empyema. Children with these complications may experience significant morbidity from their infection. In such cases, delay in diagnosis and treatment may lead to severe brain damage or death. Emergency physicians, pediatricians, and otolaryngologists should maintain a high index of suspicion for this complication of disease when treating patients with sinusitis in the emergency department or outpatient clinic. Early and accurate diagnosis of subdural empyema will lead to prompt treatment and a favorable outcome for the patient. We report a case of subdural empyema secondary to frontal sinusitis in an otherwise healthy immunocompetent adolescent boy.


Assuntos
Empiema Subdural/etiologia , Sinusite Frontal/complicações , Adolescente , Serviço Hospitalar de Emergência , Empiema Subdural/diagnóstico , Empiema Subdural/diagnóstico por imagem , Sinusite Frontal/diagnóstico , Sinusite Frontal/diagnóstico por imagem , Cefaleia/diagnóstico , Cefaleia/etiologia , Humanos , Masculino , Tomografia Computadorizada por Raios X
11.
J Clin Lab Anal ; 26(3): 161-6, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22628231

RESUMO

Malnutrition as a lack of several substances containing antioxidants such as vitamins and micronutrients, while showing a predisposition for lipid peroxidation and DNA damage, is also characterized by a slowing down of the metabolic processes, which may then have protective properties against DNA damage due to a reduction in endogenous free radical production. This study aimed to examine the oxidative status and DNA damage in cases of marasmus. The study comprised 28 infants aged 6-24 months with marasmus only and 28 age-matched healthy infants. DNA damage was examined by the alkali single cell electrophoresis method (Comet assay) on mononuclear leukocytes. The total oxidant status (TOS) and total antioxidant status (TAS) were measured by colormetric auto-analyzer and the oxidative stress index (OSI) was calculated. The TOS, TAS, and OSI levels of the patient group were found to be significantly lower compared to the control group (P < 0.01, P < 0.01, P < 0.01, respectively). No statistically significant difference was found between the two groups in terms of mononuclear leukocyte DNA damage (P > 0.05). The findings of this study showed that in marasmus cases, the oxidative and antioxidative processes, which have a counteractive effect, decreased together. The other results of the study indicate that there is no increase in DNA damage in marasmus cases.


Assuntos
Antioxidantes/metabolismo , Dano ao DNA , Estresse Oxidativo/fisiologia , Desnutrição Proteico-Calórica/genética , Desnutrição Proteico-Calórica/metabolismo , Biomarcadores/sangue , Estatura , Peso Corporal , Estudos de Casos e Controles , Ensaio Cometa , Feminino , Humanos , Lactente , Leucócitos Mononucleares , Masculino , Desnutrição Proteico-Calórica/sangue
12.
Pediatr Radiol ; 42(6): 679-84, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22450433

RESUMO

BACKGROUND: Respiratory and cardiovascular diseases are the most common causes of death in children with cerebral palsy. OBJECTIVE: To evaluate sonographic carotid intima-media thickness, an early marker of atherosclerosis, in children with cerebral palsy and in healthy controls. MATERIALS AND METHODS: One hundred children with cerebral palsy (65 boys), mean age 6.2 (SD, 2.1) years, and 35 age-matched and sex-matched healthy controls were included. Common carotid artery intima-media thickness was measured sonographically. Differences between patients and controls were evaluated with an independent samples t-test. RESULTS: Age, sex distribution and levels of serum lipids were comparable between patients and controls. Average, right and left carotid artery intima-media were thicker in patients compared with controls (mean ± SD, 0.61 ± 0.13 mm vs 0.40 ± 0.03 mm; 0.61 ± 0.14 mm vs 0.40 ± 0.03 mm; 0.61 ± 0.13 mm vs 0.40 ± 0.03 mm, respectively; all P < 0.001). CONCLUSION: Carotid intima-media is sonographically thicker in children with cerebral palsy compared with healthy controls, which may express an increased risk of atherosclerotic diseases.


Assuntos
Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/complicações , Doenças das Artérias Carótidas/diagnóstico por imagem , Espessura Intima-Media Carotídea , Paralisia Cerebral/complicações , Paralisia Cerebral/diagnóstico por imagem , Ultrassonografia/métodos , Criança , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
13.
Turk J Pediatr ; 64(1): 69-78, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35286032

RESUMO

BACKGROUND: Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis of Krabbe disease consists of biallelic mutations in the GALC gene, but the genetic spectrum in the Turkish population is poorly defined. We aimed to present a Turkish case-series with infantile-onset Krabbe disease, define the clinical and molecular findings and compare the genetic spectrum with the mutations previously reported in the literature. METHODS: Six cases, who were referred to our clinic between 2015-2019, with a definite diagnosis of infantileonset Krabbe disease were included in the study. The family history, clinical information, biochemical and radiological examinations of the patients were screened and evaluated. All encoded exons and exon-intron regions of the GALC gene were sequenced using next generation sequencing technology. Multiplex ligationdependent probe amplification analysis was used for deletion type mutations that could not be detected by sequence analysis. RESULTS: GALC gene sequence analysis revealed four known mutations including c.1394C > T (p.Thr465Ile), c.411_413delTAA (p.Lys139del), c.820G > C (p.Glu274Gln), and 30 kilobase deletion mutation among the exons 11-17 (IVS10del30kbp). Moreover, the c.1623G > A (p.Trp541Ter) variant, which was not previously reported in the literature, was detected in two cases. CONCLUSIONS: We believe that the demonstration of the genetic spectrum of infantile-onset Krabbe disease in Turkish patients will be an important contribution to the GALC mutation data in our country. More importantly, two novel variants were defined. This knowledge may enable early detection and treatment with the advent of a carrier or newborn screening tests.


Assuntos
Leucodistrofia de Células Globoides , Galactosilceramidase/genética , Humanos , Recém-Nascido , Leucodistrofia de Células Globoides/diagnóstico , Leucodistrofia de Células Globoides/genética , Mutação , Triagem Neonatal
14.
J Pediatr Intensive Care ; 11(1): 72-76, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35178281

RESUMO

Sudden cardiac arrest (SCA) is the sudden cessation of regular cardiac activity so that the victim becomes unresponsive, with no signs of circulation and no normal breathing. Asystole, ventricular tachycardia (VT), ventricular fibrillation (VF), and pulseless electrical activity are the underlying rhythm disturbances in the pediatric age group. If appropriate interventions (cardiopulmonary resuscitation-CPR and/or defibrillation or cardioversion) are not performed rapidly, this condition progresses to sudden death. There have not been many reported cases of the approach and treatment of cardiac arrhythmias after SCA. Herein, we would like to report a case of a 15-year-old female patient with dilated cardiomyopathy (DCM) who was admitted to our clinic a year ago, and while her left ventricular systolic functions were improved, SCA suddenly occurred. Since the SCA event occurred in another city, intravenous treatment of amiodarone was done immediately and was switch to continuous infusion dose of amiodarone until the patient arrived at our institution's pediatric intensive care unit (PICU) 3 hours later. During the patient's 20-day PICU hospitalization, she developed pulseless VT and VF from time to time. The patient's pulseless VT and VF attacks were brought under control by the use of a defibrillator and added antiarrhythmic drugs (amiodarone, flecainide, esmolol, and propafenone). Intriguingly, therapy-resistance bigeminy with premature ventricular contractions (PVCs) continued despite all these treatments. The patient did not have adequate blood pressure measured by invasive arterial blood pressure monitoring while having bigeminy PVCs. The intermittent bigeminy PVCs ameliorated rapidly after intermittent boluses of lidocaine. In the end, multiple antiarrhythmic therapies and intermittent bolus lidocaine doses were enough to bring her cardiac arrhythmias after SCA under control. This case illustrates that malign PVC's should be taken very seriously, since they may predispose to the development of VT or VF. Also, this case highlights the importance of close vigilance of arterial pressure tracings of patients with bigeminy PVCs which develop after SCA and should not be accepted as normal.

15.
J Child Neurol ; 35(8): 501-508, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32507080

RESUMO

AIM: To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. METHOD: We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) between July 2018 and February 2019. RESULTS: Twenty-two patients were evaluated. Ten of 22 (45%) presented with acute paralysis and 12 of 22 (55%) with brainstem symptoms only. Reverse transcription polymerase chain reaction for enterovirus was positive in 2 patients' respiratory tract. Other etiologic factors were detected in 10 cases. On follow-up, patients presenting with symptoms of myelitis developed motor sequalae although spinal cord lesions on MRI resolved in 5 of 9 (55%). Encephalitic symptoms, present in 17 cases, recovered in 13 (76%), and brain MRI showed complete or near-complete resolution in 11 of 14 (78%). CONCLUSION: Various etiologic agents can be detected in patients with pontine involvement, even in a series collected during an outbreak of EV-D68. Encephalitis has a fair outcome but clinical recovery is slow and motor sequalae are frequent in spinal involvement, irrespective of follow-up spinal MRI findings.


Assuntos
Viroses do Sistema Nervoso Central/diagnóstico por imagem , Infecções por Enterovirus/diagnóstico por imagem , Mielite/diagnóstico por imagem , Doenças Neuromusculares/diagnóstico por imagem , Tegmento Pontino/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Enterovirus , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Prognóstico
16.
Early Hum Dev ; 131: 15-20, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30798037

RESUMO

BACKGROUND: The General Movement Assessment (GMA) is a video analysis method developed by Heinz Prechtl that examines the infant's spontaneous movements. In recent years, although many studies have been performed in preterm infants by applying GMA, few studies have shown the effects of early intervention on GMA. AIMS: Current study was planned to determine the acute effects of a single-session early physiotherapy approach on preterm infants' general spontaneous movements, and to reveal the change in Motor Optimality Scale (MOS) score including FMs. STUDY DESIGN: Prospective, single-blind study. SUBJECTS: Current study was carried out with 32 preterm infants at postterm 12-16 weeks. OUTCOME MEASURES: The infants included in the study were videotaped by a physiotherapist during 10-15 min before the physiotherapy session at postterm 12-16 weeks for GMA. After a single physiotherapy session, the same physiotherapist performed the same video footage second time. A blind evaluator assessed the videos taken before and after session and scored Motor Optimality Scale (MOS). RESULTS AND CONCLUSIONS: There was no statistically significant difference between MOS sub-category and total score of the infants before and after the session (p > 0.05). According to the results of present study, a single-session early physiotherapy intervention did not have an acute effect on the spontaneous movements of preterm infants at postterm 12-16 weeks. Future studies are needed to demonstrate the short and long-term effects of early physiotherapy approaches to risky infants.


Assuntos
Recém-Nascido Prematuro , Modalidades de Fisioterapia , Adulto , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Movimento , Método Simples-Cego , Gravação em Vídeo
17.
Brain Dev ; 41(3): 245-249, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30424911

RESUMO

OBJECTIVE: The pathogenesis of inherited diseases is thought to involve oxidative stress and the associated DNA damage, which are also implicated in many other conditions including cancer. Tuberous sclerosis is a genetic disease with autosomal dominant inheritance pattern that is characterized by the development of hamartomas in multiple organ systems. Oxidative stress and the related DNA damage are also likely to play a significant role in the pathogenesis of this condition. Thus, our study aimed to assess total oxidant-antioxidant level, oxidative stress index and DNA damage in patients diagnosed with tuberous sclerosis. METHODS: The study included 30 patients with tuberous sclerosis between the ages of 0 and 16 years. The control group consisted of 29 age-matched healthy children. Blood samples obtained from each subject were centrifuged to separate the sera. The Total Antioxidant Status (TAS) and Total Oxidant Status (TOS) were measured in serum samples with a Thermo Scientific Multiscan plate reader (FC, 2011-06, USA) at wavelengths of 240 nm and 520 nm, respectively. The measured TAS and TOS values were used to calculate the Oxidative Stress Index (OSI). In addition, the Comet Assay Method was used to determine DNA damage in the samples. Data were analyzed using SPSS software. RESULTS: Patients with tuberous sclerosis complex (TSC) and controls were compared with respect to TAS, TOS, and OSI. TAS was significantly lower (p < 0.01), while TOS and OSI were significantly higher (p < 0.01, for both) in patients as compared to controls. In addition, patients had significantly higher DNA damage as shown by the Comet Assay (p < 0.01). CONCLUSIONS: Increased oxidative stress and DNA damage may contribute to the pathogenesis of tuberous sclerosis.


Assuntos
Antioxidantes/metabolismo , Dano ao DNA/fisiologia , Oxidantes/sangue , Esclerose Tuberosa/metabolismo , Esclerose Tuberosa/fisiopatologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino
18.
Pediatr Neurol ; 37(2): 117-20, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17675026

RESUMO

The aim of this study was to assess the effects of meningitis treatment on the serum and cerebrospinal-fluid oxidant and antioxidant status in children with bacterial meningitis. Forty children with bacterial meningitis, at ages ranging from 4 months to 12 years (mean age, 4 years), were enrolled in the study. Within 8 hours after admission (before treatment) and 10 days after clinical and laboratory indications of recovery (after treatment), cerebrospinal fluid and venous blood were collected. Thirty-seven healthy children (mean age, 4 years) were enrolled as control subjects, and only venous blood was collected. Serum total oxidant status, lipid hydroperoxide, oxidative stress index, uric acid, albumin, and ceruloplasmin levels were lower in the patient group after treatment (P<0.05). Serum total antioxidant capacity levels, vitamin C, total bilirubin, and catalase concentrations were not significantly altered by treatment (P>0.05). However, cerebrospinal fluid total oxidant status, lipid hydroperoxide, and oxidative stress index levels were higher, and cerebrospinal fluid total antioxidant capacity levels were lower after treatment than before treatment (P<0.05). In conclusion, we demonstrated that serum oxidative stress was lower, and cerebrospinal fluid oxidative stress was higher, after rather than before treatment in children with bacterial meningitis.


Assuntos
Antioxidantes/metabolismo , Meningites Bacterianas/metabolismo , Oxidantes/sangue , Oxidantes/líquido cefalorraquidiano , Estresse Oxidativo , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Peroxidação de Lipídeos , Masculino , Meningites Bacterianas/terapia
19.
Turk Pediatri Ars ; 52(2): 98-100, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28747841

RESUMO

Valproic acid is an effective, frequently used anticonvulsant drug. Typical adverse effects include weight gain, hair loss, and nausea. Hyperpigmentation, onycholysis, and onychomadesis are nail changes that can be seen after valproic acid use. Changes occur at the distal and proximal portions of the nail bed in onycholysis and onychomadesis, respectively. Onychomadesis is a very rare disease of childhood with the exception of systemic and genetic diseases. Here, we present a child aged 23 months, the youngest and the earliest isolated patient with onychomadesis, which occurred after valproic acid treatment and worried the family but resolved spontaneously. The improvement of this very rare adverse effect of antiepileptic drugs after cessation of valproic acid without treatment is emphasized.

20.
Brain Res Bull ; 69(6): 666-8, 2006 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-16716836

RESUMO

The superiority of oxidative stress and/or the inadequacy of antioxidant capacity have an important role in disease. Decreased antioxidant availability has been observed in the pathogenesis of many different diseases affecting the brain, such as mitochondrial disorders, cerebral ischaemia and epilepsy. Oxidative and antioxidative status in children with cerebral palsy aged 1-12 years was investigated in this study and compared with healthy controls. Sixty-nine patients with cerebral palsy and 42 controls were enrolled in the study. Lipid peroxidation in the cerebral palsy group was significantly higher than that in the controls (7.54+/-3.64 micromol H(2)O(2)/L and 5.84+/-1.25 micromol H(2)O(2)/L, respectively) (P=0.02). Serum total antioxidant capacity levels were also markedly lower in the CP group than in the control group (1.42+/-0.22 mmol Trolox equiv./L and 1.64+/-0.17 mmol Trolox equiv./L, respectively) (P=0.003). Uric acid and albumin concentrations were lower in the study group than in the control group. Based on these results, we concluded that oxidants were increased and antioxidants were decreased in the cerebral palsy group, and, as a result, the oxidative/antioxidative balance shifted to the oxidative side in children with cerebral palsy.


Assuntos
Albuminas/metabolismo , Paralisia Cerebral/metabolismo , Paralisia Cerebral/fisiopatologia , Peroxidação de Lipídeos/fisiologia , Ácido Úrico/metabolismo , Análise de Variância , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Estatísticas não Paramétricas
SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa