Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in ...association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.
Abstract Objective Sydenham’s chorea is the most common cause of acquired chorea in children and is the major manifestation for acute rheumatic fever. Despite being known as a benign, self-limiting ...condition, recurrences and persistence of symptoms can be seen. In this study, we aimed to evaluate retrospectively the clinical and laboratory features of patients with Sydenham’s chorea and the rate and the course of recurrences, and to assess the risk of recurrences. Methods The study was a retrospective study conducted in a tertiary hospital. Patients with Sydenham’s chorea who were admitted to our outpatient clinics between January 2013 and June 2015 were included. Both newly diagnosed and follow-up patients were enrolled during this period. We retrospectively reviewed the medical charts of the patients. Results There were 90 patients with female predominance. The mean age of onset was 11 ± 2.4 years. Complete remission was maintained in 77 patients (85.6%) at 1–6 months and 4 patients had symptoms at more than 12 months. Patients were followed for 6 months to 9 years. The recurrence rate was 16%. When we compared recurrent patients with the non-recurrent group, complete remission in 6 months, the presence of persistent chorea, and regular use of prophylaxis were significantly different between the 2 groups. Conclusions Sydenham’s chorea is still an important health problem and has high morbidity in patients with recurrent and persistent chorea. The irregular usage of antibiotic prophylaxis, failure to achieve remission within 6 months, and prolongation of symptoms for more than 1 year are risk factors for recurrence of chorea.
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting ...with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2. Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.
Abstract In this study, our objective is to investigate the effects of mannitol and 7.5% hypertonic saline (HS) therapy on the levels of malondialdehyde (MDA), catalase and glutathione peroxidase ...(GSH-Px) in the early stages of experimental head traumas in rats. Rats included in the study were divided into four groups: Group I Control, Group II Trauma, Group III Mannitol, and Group IV 7.5% Hypertonic Saline. Rats in Group II were subject to head trauma only. Mannitol was injected intraperitoneally to rats in Group III after head trauma and 7.5% HS was injected intraperitoneally to rats in Group IV after head trauma. Rats were sacrificed 4 h after administration of mannitol or 7.5% HS, and the levels of MDA catalase and GSH-Px in brain tissues extracted from rats were determined. MDA levels in the trauma group were significantly increased compared with the control group ( p < 0.01), whereas there was a reduction in catalase and GSH-Px levels, although these differences were not significant. By contrast, in the mannitol group, MDA, catalase and GSH-Px levels were lower than the levels in the trauma group, and these reductions were statistically significant ( p < 0.05). The MDA, catalase and GSH-Px levels of the 7.5% HS group were lower than those of the trauma group; however, this reduction was not statistically significant. It was concluded that mannitol and 7.5% HS therapies that are used to reduce intracranial pressure and to increase the use of catalase, an antioxidant enzyme, and GSH-Px, are likely to reduce cellular damage by reducing the formation of MDA, the levels of which are known to be indicative of cellular level oxidant damage.
The induction and inhibition of cytochrome P450 isoenzymes by antiepileptic drugs lead to changes in the clearance of anesthetic drugs eliminated via hepatic metabolism. We investigated the duration ...of the sedation and additional anesthetic needs during magnetic resonance imaging in epileptic children receiving antiepileptic drugs that cause either enzyme induction or inhibition.
In American Society of Anesthesiology I–II, 120 children aged 3–10 years were included. Group 1: children using antiepileptic drugs that cause cytochrome P450 enzyme induction; Group 2: those using antiepileptic drugs that cause inhibition; and Group 3: those that did not use antiepileptic drugs. Sedation was induced with the use of 0.05mgkg−1 midazolam and 1mgkg−1 propofol. An additional 0.05mgkg−1 of midazolam and rescue propofol (0.5mgkg−1) were administered and repeated to maintain sedation. The duration of sedation and the additional sedation needed were compared.
The duration of the initial dose was significantly shorter in Group I compared with groups II and III (p=0.001, p=0.003, respectively). It was significantly longer in Group II compared with groups I and III (p=0.001, p=0.029, respectively). The additional midazolam needed for adequate sedation was increased in Group I when compared with groups II and III (p=0.010, p=0.001, respectively). In addition, the rescue propofol dose was significantly higher only in Group I when compared with Group III (p=0.002).
In epileptic children, the response variability to the initial sedative agents during the magnetic resonance imaging procedure resulting from the inhibition or induction of the cytochrome P450 isoenzymes by the antiepileptic drugs mandated the titration of anesthetic agents.
A indução e a inibição das isoenzimas do citocromo P450 pelos medicamentos antiepilépticos levam a alterações na depuração de medicamentos anestésicos eliminados pelo metabolismo hepático. Investigamos a duração da sedação e a necessidade adicional de anestésicos durante a ressonância magnética em crianças epilépticas que receberam antiepilépticos que causam a indução ou a inibição de enzimas.
Foram incluídas no estudo 120 crianças, estado físico ASA I-II, entre 3-10 anos. Grupo 1: em uso de antiepilépticos que causam a indução de enzimas do citocromo P450; Grupo 2: em uso de antiepilépticos que causam a inibição de enzimas do citocromo P450; e Grupo 3: que não usavam antiepilépticos. A sedação foi induzida com midazolam (0,05mgkg−1) e propofol (1mgkg−1). Um adicional de 0,05mgkg−1 de midazolam e resgate com 0,5mgkg−1 de propofol foram administrados e repetidos para manter a sedação. A duração da sedação e a sedação adicional necessária foram comparadas.
A duração da dose inicial foi significativamente menor no Grupo I em comparação com os grupos II e III (p=0,001, p=0,003, respectivamente) e significativamente maior no Grupo II em comparação com os grupos I e III (p=0,001, p=0,029, respectivamente). A necessidade de midazolam adicional para sedação adequada foi maior no Grupo I em comparação com os grupos II e III (p=0,010, p=0,001, respectivamente). Além disso, a dose de resgate de propofol foi significativamente maior apenas no Grupo I em comparação com o Grupo III (p=0,002).
Em crianças epilépticas, a variabilidade da resposta aos agentes sedativos iniciais durante a ressonância magnética, resultante da inibição ou indução das isoenzimas do citocromo P450 pelos medicamentos antiepiléticos, exigiu a titulação dos agentes anestésicos.
The tricyclic antidepressant agents, particularly amitriptyline and dothiepin, are recognized for their potentially lethal cardiovascular and neurological effects in poisoned patients. In this ...article, the clinical and laboratory findings of 44 children with amitriptyline intoxication are reviewed. Our purpose was to investigate amitriptyline intoxication in childhood. Of 44 patients, 21 (47.7%) were boys, 23 (52.3%) were girls, and the ages ranged from 12 months to 14 years (mean9 / SD; 4.099 / 2.9 years). All children except one who took an overdose of amitriptyline to decrease his pain accidentally ingested an overdose of amitriptyline. The amount of amitriptyline ingested was between 2 mg/kg and 97.5 mg/kg (mean9 / SD; 13.69 / 17.7 mg/kg per dose) (the drug dosage was not known in 13 children). The most commonly observed clinical and laboratory findings were lethargy, tachycardia, convulsion, hyperglycemia and leukocytosis. In all patients except for two children who died the abnormal clinical and laboratory findings returned to normal within a few days after admission and they were discharged from the hospital in good health within the fourth day of admission. One of the children ingested 97.5 mg/kg amitriptyline and probably died due to status epilepticus and another child who died ingested 36 mg/ kg amitriptyline and died due to cardiopulmonary arrest. In conclusion, our findings showed that initial symptoms and signs of acute amitriptyline intoxication appeared severe, but they disappeared with only supportive care required in most children except for cases that ingested high doses of drug within a few days. In contrast to adults, we infrequently noted respiratory insufficiency, arrhythmia and hypotension in children with acute amitriptyline intoxication.
An 11-year-old boy presented with convulsion, fever, rash, abdominal pain, swelling on the eyelids, elbow and wrists, oliguria and hematuria. Based on the abnormal findings the patient was diagnosed ...with Henoch-Schönlein purpura. On the 3rd day of admission, neurological examination showed ataxic gait, loss of deep tendon reflexes, and decreased (4/5) of muscle strength on all extremities. Additionally, bilateral loss of touch, pain and temperature sensation in a glove, from the elbows to distal region (on C5-T1 level) was diagnosed. Cerebrospinal fluid examination and cranial magnetic resonance imaging (MRI) were normal. The patient was discharged with oral prednisolone on the 7th day of admission. One week after discharging from the hospital, he was re-admitted with vertigo and seizures. He was in coma. MRI of cranial, cervical and cervical plexus were normal. Electromyography showed severe bilateral brachial plexopathy. Prednisolone and
intravenous immunglobulin (IVIG) therapy were given without significant improvement. He was discharged from the hospital on the 17th day of admission. On the second month of follow-up, a second cure of IVIG was given because of no clinical improvement. Now, he is on the 4th month of follow-up, unfortunately, no improvement was noted on his muscle strength and sensorial abnormalities on the upper extremities.
In this study, lymphocyte subgroups including blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were analyzed in children with Down syndrome (DS). The study includes 85 children with DS, ...followed at Department of Pediatrics, Faculty of Medicine, Yüzüncü Yil University and 64 healthy age-matched control participants. Blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were examined in both the groups. Significantly decreased blood CD3, CD4, and CD19 values were found in the study group (P < .05) when compared with the control group. In conclusion, we would like to emphasize that blood CD3, CD4, and CD19 levels were found to be decreased in children with DS. Based on these finding, we think that these decreased lymphocyte subgroups might be responsible for increased susceptibility to infections in children with DS.
This study aimed to investigate the localization of the lipoma, as well as associated intracranial and extracranial lesions in 14 patients immediately following hospital admission. The pathological ...findings from the neurological examinations of these patients are also investigated.
Fourteen patients who were admitted to our clinic with a variety of symptoms and diagnosed with intracranial lipoma were included in the study. Problems presented upon admission, neurological findings, and other existing system abnormalities were evaluated. Localization of the lipomas and accompanying pathologies were determined by using computerised tomography and magnetic resonance imaging.
The most frequent reasons for admission of patients with intracranial lipomas were: headache 7 (50%), trauma 3 (21.5%), epilepsy 3 (21.5%) and one with symptoms due to the local mass effect of tumor (7%). Although the pericallosal region is accepted as the region where lipomas commonly occur, this study found the most frequent occurrence in the quadrigeminal cistern. Intracranial lipoma calcification was only evident in 1 of the 14 patients. In addition, contrary to the expectations, intracranial and extracranial lesions accompanying lipomas were rare. All patients received systematic treatment.
This study showed that intracranial lipomas are more frequent in the quadrigeminal region of the brain; most are asymptomatic, generally caught incidentally; and accompanying intracranial and extracranial pathologies are less common than expected.
Oxidative stress is accepted as a potential responsible mechanism in the pathogenesis of radiocontrast media (RCM)-induced hepatotoxicity. Therefore, we aimed to investigate the protective effects of ...ebselen against RCM-induced hepatotoxicity by measuring tissue oxidant/antioxidant parameters and histological changes in rats. Wistar albino rats were randomly separated into four groups consisting of eight rats per group. Normal saline was given to the rats in control group (group 1). RCM was given to the rats in group 2, and both RCM and ebselen were given to the rats in group 3. Only ebselen was given to the rats in group 4. Liver sections of the killed animals were analyzed to measure the levels of malondialdehyde (MDA) and activities of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSH-Px), as well as histopathological changes. In RCM group, SOD and CAT levels were found increased. In RCM-ebselen group, MDA, SOD and CAT levels were found decreased. In RCM-ebselen group, however, GSH-Px activities of liver tissue increased. All these results indicated that ebselen produced a protective mechanism against RCM-induced hepatotoxicity and took part in oxidative stress.
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