Typical Absence Research Articles

GENERALIZED TONIC-CLONIC SEIZURES : CLASSIFICATION, ELECTRO-CLINICAL CHARACTERISTICS, AND EFFICACY OF ANTIEPILEPTIC THERAPY

Objective: to study patients with generalized tonic-clonic seizures (GTCS) with emphasis on their nosological, anamnestic, clinical, EEG, and neuroimaging characteristics, as well as their response to antiepileptic therapy. Materials and methods . A total of 1261 patients with various forms of epilepsy and the onset of seizures from the first day of life to 18 years of age were examined. Among those, a group of patients with confirmed GTCS was subjected to further analysis. Results. We identified 190 patients with GTCS, which comprised 15.1% of all epilepsy cases (1261). There was a slight predominance of male patients in the GTCS group: 99 (52.1%) versus 91 (47.9%) females. It is known that GTCS can be part of 13 different epileptic syndromes. Among the patients in the present study, the following syndromes prevailed: epilepsy with isolated generalized seizures (26.2%), juvenile absence epilepsy (23.7%), and juvenile myoclonic epilepsy (23.2%). Symptomatic / cryptogenic focal epilepsy (SFE / CFE) was diagnosed in 11.6% of patients. In these patients with GTCS, the debut of epilepsy varied from the first month of life to 18 years of age. The average age of the debut was 10.4±5.35 years. The highest incidence of epilepsy in these pediatric patients was observed between 13 and 15 years of age – 27.4% of all cases. Along with that, the onset of epilepsy with generalized seizures reached its maximum at the interval between 10 and 18 years of age (60.4% of all cases). GTCS as the only type of seizures for the entire period of the disease was observed in 27.4% of cases. In the remaining patients, GTCS were observed together with other types of seizures. Of those, myoclonic seizures (34.2% of cases) and typical absences (31.6%) were mostly common. It is shown that in most patients (75.8%), antiepileptic medications brought about a complete remission. In 18.9% of patients, this treatment resulted in a more than two-fold decrease in the occurrence of seizures. In 5.3% of cases, the antiepileptic therapy had no effect. In 35 patients (18.4% of cases) in remission, recurrent seizure attacks were observed. Conclusion. The variety of GTCS- associated syndromes, and the significant differences in the prognosis and the therapeutic approaches, necessitate using the full range of diagnostic measures.

Histopathological analysis of oral lichen planus with malignant transformation

Objective: To estimate the histological features of oral lichen planus (OLP) which underwent malignant transformation and discuss the current problems in OLP pathological diagnosis. Methods: Using the modified WHO OLP criteria (2003), reevaluated the pathological changes of cases diagnosed initially as OLP and transformed into squamous cell carcinomas indicated by subsequent biopsies. Results: Among 3 721 cases of OLP clinically and pathologically diagnosed during 1984 and 2015, there were 19 cases (0.51%) having underwent malignant transformation. Reevaluation of the initial biopsies revealed that 10 cases did not meet the criteria of OLP, as without characteristic basal cell liquefaction, not exhibiting sufficient band-like lymphocytes infiltration, or presenting with epithelial dysplasia. There were 9 cases of OLP malignant transformation left after the reevaluation. Conclusions: Pathological diagnosis of OLP should fully fit the criteria i.e. basal cell liquefaction, typical band-like lymphocytes infiltration and absence of epithelial dysplasia, which is also a prerequisite for researches in malignant transformation of OLP.

Progression in Patients with with Low- and Intermediate-1 Risk Del(5q) MDS Is Predicted By a Limited Subset of Mutations

▪A high proportion of lower-risk del(5q) MDS patients will respond to treatment with lenalidomide. The estimated duration of transfusion-independence is 2 years including some long-lasting responses, but almost 40% of patients progress to acute leukemia by 5 years after start of treatment. As the molecular mechanisms underlying disease progression in del(5q) MDS remain to be elucidated, we do not know how to predict disease progression or how to monitor patients during lenalidomide treatment. We previously reported that small TP53 mutated subclones predict for an unfavorable outcome in del(5q) patients, and that these subclones expand with disease progression. However, whether or not other somatic mutations or factors related to the bone marrow microenvironment also contribute to disease progression has not been comprehensively assessed.We studied a longitudinal cohort of 35 low- and intermediate-1-risk del(5q) patients treated with lenalidomide (n=22), or other treatments including stem cell transplantation (n=13) by flow cytometric surveillance of hematopoietic stem and progenitor cells (HSPC) subsets, targeted sequencing of mutational patterns, and changes in the bone marrow microenvironment. In our cohort, 13 of 35 patients progressed to either higher-risk MDS (n=4) or leukemia (n=9), 12 of whom were treated with lenalidomide. Progression was associated with the detection of a restricted subset of new recurrent mutations, either alone or in combination: TP53 (n=9, p=0.0004), TET2 (n=6, p=0.006), RUNX1 (n=3, p=0.044), and PTPN11 (n=1). Regardless of whether the three mutations (TP53, TET2 and RUNX1) were present in the initial sample or whether they subsequently developed, testing positive for any of them carried a high probability (13/16, 81%) for predicting progression. For 11 out of 13 patients the new mutations were detected prior to the time point of clinical progression and the median time from detection of the mutation to clinical evidence of progression was 42 months (range 0-83.9). Thus, we were able to detect the mutation in the majority of cases well before clinical signs of disease progression. Seven of the nine patients who developed leukemia carried a TP53 mutation. Based on a median sequencing depth of 370 reads, the mutation was considered present pre-treatment in one of these patients and to have developed under treatment in the other six. Using flow cytometry for surveillance of HSPC subsets in lenalidomide-treated patients, we found that neither lenalidomide treatment nor the acquisition of additional mutations led to any uniform profound changes in the hematopoietic hierarchy unless the patient showed clinical signs of progression. Microarray analysis of mesenchymal stromal cells (MSC) exhibited an expression footprint consistent with MSC with high expression of typical MSC markers and absence of hematopoietic gene signatures. However, we observed only minor differences in gene expression between pre- treatment del(5q) and healthy MSC.In conclusion, while flow cytometric analysis of HSPC populations or analysis of the microenvironment had limited predictive value in this cohort of lower-risk del(5q) MDS, all patients who progressed to either higher-risk MDS or leukemia were identified by harboring recurrent mutations in a limited number of genes, i.e., TP53, RUNX1, TET2, and PTPN11. Based on our data, we advocate for conducting a prospective study aimed at investigating in a larger number of del(5q) MDS cases pre- and post-lenalidomide treatment, whether the detection of such mutations can guide clinical decision making, such as suggesting which patients should undergo hematopoietic cell transplantation. DisclosuresNo relevant conflicts of interest to declare.

Impaired consciousness in patients with absence seizures investigated by functional MRI, EEG, and behavioural measures: a cross-sectional study

BackgroundAbsence seizures are brief episodes of impaired consciousness characterized by staring and behavioral arrest. The neural underpinnings of impaired consciousness and of the variable severity of behavioral impairment observed from one absence seizure to the next are not well understood. We therefore compared fMRI and EEG changes in absence seizures with impaired task performance to seizures in which performance was spared.MethodsPatients were recruited from 59 pediatric neurology practices including hospitals and neurology outpatient offices throughout the United States. We performed simultaneous electroencephalography (EEG), fMRI, and behavioral testing in children and adolescents aged 6 to 19 years with typical absence epilepsy. fMRI and EEG were analyzed using data-driven approaches without prior assumptions about signal time courses or spatial distributions. The main outcomes were fMRI and EEG amplitudes in seizures with impaired versus spared behavioral responses analysed by t-test. We also examined the timing of fMRI and EEG changes in seizures with impaired behavioral responses compared to seizures with spared responses.Findings93 patients were enrolled between September 1, 2005 and January 1, 2013, and we captured a total of 1032 seizures in 39 patients. fMRI changes during seizures occurred sequentially in three functional brain networks previously well-validated in studies of normal subjects. Seizures associated with more impaired behavior showed higher fMRI amplitude in all three networks compared to seizures with spared performance. In the default-mode network fMRI, amplitude was 0·57 ± 0·26% for seizures with impaired and 0·40 ± 0·16% for seizures with spared behavioral responses (mean difference 017%; 95% CI: 0·11 to 0·23%; p < 0.0001). In the task-positive network, fMRI amplitude was 0·53 ± 0·29% for impaired and 0·39 ± 0·15% for spared seizures (mean difference 0·14%; 95% CI: 008 to 0·21%; p < 0.0001). In the sensorimotor-thalamic network, fMRI amplitude was 0·41 ± 0·25% for impaired and 0·34 ± 014% for spared seizures (mean difference 0 07%; 95% CI: 001 to 0·13%; p = 0.02). Seizures with impaired behavior also showed greater EEG power in widespread brain regions compared to seizures with spared behavior. Mean fractional EEG power in the frontal leads was 50·4 ± 15·2 for seizures with impaired and 24·8 ± 6·5 for seizures with spared behavior (mean difference 25·6; 95% CI: 210 to 30·3); middle leads 35·4 ± 6·5 for impaired, 13 3 ± 34 for spared seizures (mean difference 22·1; 95% CI: 20.0 to 24·1); posterior leads 41·6 ± 5·3 for impaired, 24·6 ± 86 for spared seizures (mean difference 170; 95% CI: 14·4 to 19·7); p < 00001 for all comparisons. Average seizure duration was longer for seizures with impaired behavior at 79 ± 66 s, compared to 3·8 ± 3.0 s for seizures with spared behavior (mean difference 4.1 s; 95% CI 3.0 to 5.3 s, p < 00001). However, larger amplitude fMRI and EEG signals occurred at the outset or even preceding seizures with impairment.InterpretationImpaired consciousness in absence seizures is related to the intensity of physiological changes in established networks affecting widespread regions of the brain. Increased EEG and fMRI amplitude occurs at the onset of seizures associated with behavioral impairment. These findings suggest that a vulnerable state may exist at the initiation of some seizures leading to greater physiological changes and altered consciousness.

Absence epilepsy – electroclinical features and current advances

The purpose of this article is to provide an overview of the electroclinical features and pathophysiological findings, as well as the neuropsychological characteristics of absence epilepsies. Absence seizures are primary generalized, non-convulsive seizures. The classical clinical manifestations of typical absence seizures are a transient impairment of consciousness (with abrupt onset and offset) accompanied by staring, blinking and various forms of head/limb automatism. Atypical absence attacks are characterized by a milder beginning and end of the attack, more expressed changes in muscular tone, less severe disorders of consciousness, and longer duration compared to typical attacks. EEG findings in absence epilepsies have a characteristic pattern, demonstrating generalized spike and wave complexes that are typically 2.5-4 Hz. Treatment depends on the type of epilepsy, but usually includes valproic acid and ethosuximide. Because of their benign nature and lack of clinical presentation that resembles “real” epilepsy, absence attacks are often interpreted as daydreaming or simply a lack of attention, and therefore often the first signs of the disease are often not recognized. Conclusion : A better understanding of absence epilepsies is very important in order to develop strategies that will improve these children’s quality of life.

Increased inhibitory synaptic activity in the hippocampus (CA1) of genetic absence epilepsy rats: Relevance of kindling resistance

PurposeGenetic absence epilepsy rats from Strasbourg (GAERS), a well-validated genetic rat model for typical absence epilepsy, are known to manifest a resistance to secondary generalization of abnormal focal electrical activity evoked by kindling. The mechanism of this resistance is still unclear. In order to understand the possible mechanism of kindling resistance, we investigated for the first time, the differences of short-term synaptic plasticity by using a paired-pulse paradigm as an indicator of GABAergic activity in CA1 region of hippocampus in GAERS and non-epileptic Wistar rats in-vivo. MethodsRats were subjected to kindling process, basolateral amygdala was stimulated twice a day, with a supra-threshold current, until they displayed limbic or convulsive seizures. One hour after the last kindling stimulation, evoked field potentials from CA1 pyramidal layer of hippocampus were recorded in-vivo under urethane anesthesia. ResultsIn response to supra-threshold kindling stimulations GAERS showed a significantly delayed kindling progression and displayed a significant increase in hippocampal excitability at early stages of kindling that is the critical for the development of convulsive seizures. In control rats that were not received kindling stimulation, paired-pulse depression (PPD) was significantly pronounced in GAERS with respect to the Wistar group. During the kindling course, PPD was gradually reduced in the Wistar rats as kindling progression was advanced. However in GAERS, PPD ratios were not significantly changed at early stages of kindling. When GAERS reached convulsive stage, their PPD ratios became similar to that of Wistar rats. DiscussionThe increased inhibition in paired-pulse responses at early stages of kindling in GAERS suggests the role of augmented GABAergic activity as one of the underlying mechanisms of kindling resistance observed in genetic rat models of absence epilepsy.

Small Bowel Neoplasms and Polyps.

The small intestine is a relatively privileged organ that only rarely develops malignant or even benign tumors. Given this rarity, the relative inaccessibility of the organ during routine endoscopic procedures, and the typical absence or nonspecific nature of clinical manifestations, these tumors often go undiagnosed. Treatment and prognosis are tailored to each histological subtype of tumor. This chapter will discuss the epidemiology, presentation, diagnostics, and management for the most common small bowel tumors, and will highlight the importance of recognizing patients at higher risk of small bowel neoplasia.

ЧИ ВІДПОВІДАЄ КЛІНІЧНА РЕМІСІЯ РЕЦИДИВНОГО ОБСТРУКТИВНОГО БРОНХІТУ ВІДСУТНОСТІ ІМУНОЛОГІЧНИХ ЗМІН У РЕСПІРАТОРНОМУ ТРАКТІ ДІТЕЙ?

&lt;p&gt;Проведено дослідження ролі вмісту інтерлейкінів&lt;br /&gt;(ІЛ)-4, -6, -8, -10 в слині у пацієнтів з рецидивним об-&lt;br /&gt;структивним бронхітом (РОБ) під час ремісії і здорових&lt;br /&gt;дітей. Встановлено, що за відсутності клінічних про-&lt;br /&gt;явів РОБ у цих дітей тривають імунопатологичні про-&lt;br /&gt;цеси. Показано, що за даними анамнезу, особливостями&lt;br /&gt;клінічних проявів і результатами визначення ІЛ-4, -6,&lt;br /&gt;-8, -10 в слині в групі дітей з РОБ можна розмежувати&lt;br /&gt;дві підгрупи: пацієнтів з інфекційно-асоційованим РОБ&lt;br /&gt;і захворюванням, що має алергічний генез. Для дітей з&lt;br /&gt;алергічним генезом хвороби характерним є обтяжений&lt;br /&gt;алергологічний анамнез у сім’ї, атопічний дерматит&lt;br /&gt;на першому році життя, розвиток загострення після&lt;br /&gt;контакту з тваринами або переважно під час цвітіння&lt;br /&gt;рослин, відсутність вираженої температурної реакції&lt;br /&gt;під час розвитку бронхообструктивного синдрому в по-&lt;br /&gt;єднанні з істотно підвищеним вмістом ІЛ-4 в слині. Для&lt;br /&gt;пацієнтів з інфекційно-асоційованим РОБ характерна&lt;br /&gt;відсутність алергічних захворювань у батьків та інших&lt;br /&gt;членів сім’ї, сезонність загострень з листопада по&lt;br /&gt;квітень, розвиток загострень бронхообструктивного&lt;br /&gt;синдрому в поєднанні з фебрильною температурою&lt;br /&gt;тіла і катаральними явищами, а також підвищенням&lt;br /&gt;вмісту в слині рівнів ІЛ-6, -8 і зниженням вмісту ІЛ-10.&lt;br /&gt;Зазначені особливості можуть враховуватися при&lt;br /&gt;оцінці прогнозу перебігу захворювання та визначенні&lt;br /&gt;підходів до диференційованої терапії.&lt;br /&gt;Ключові слова: діти, респіраторні інфекції, реци-&lt;br /&gt;дивний обструктивний бронхіт.&lt;/p&gt;

ID 337 – Response to clonazepam in typical absence status epilepticus

Objective Absence status epilepticus ASE is a type of non convulsive status epilepticus in which continuous or recurrent generalised epileptiform discharges are associated with a varying grade of consciousness.We describe the case of an elderly man who presented with typical ASE resolved after intravenous clonazepam. Methods Clinical case report. Results A 62-year old man had a history of idiopathic generalised epilepsy with tonic-clonic seizures.Treated since the age of 30 years with phenobarbital PB 100 mg/day.He was disoriented to time and place and a slowness in mental activity over 24 h after food poisoning. Laboratory tests and a CT scan of the brain were normal.brain MRI did not show any structural lesions.EEG showed recurrent generalsed paroxysms of 3 Hz spike-wave.Normal background activity.Normalisation of mental status and EEG pattern after 1mg intravenous clonazepam (Benzodiazepine). Phenobarbital PB was substituted by valproic acid 1500 mg/day. Conclusion Typical ASE diagnosis must be based on EEG pattern and clinical history. Efficacy of intravenous clonazepam in treatment of typical ASE.

JUVENILE MYOCLONIC EPILEPSY: A FOCUS ON THE EFFICACY OF THERAPY AND THE RATE OF RELAPSES ACCORDING TO LONG-TERM FOLLOW-UP DATA

Juvenile myoclonic epilepsy (JME) is a type of adolescent-onset idiopathic generalized epilepsy with the appearance of massive myoclonic seizures and, in most cases, generalized convulsions occurring chiefly in the period after awakening. It is assumed that there is a two-locus (dominant and recessive) model of inheritance of JME; moreover, the dominant gene is located on the short arm of chromosome 6. JME is one of the most common types of epilepsy and most frequent among idiopathic generalized epilepsies. Its rate is 5 to 11 % of all types of epilepsy with some female predominance. The diagnosis of JME creates no problems in typical cases. The disease is generally manifested by a concurrence of myoclonic (usually in the hands) and generalized clonic-tonic-clonic seizures occurring during waking. Typical absences and epileptic myoclonus of the eyelid are rarer. Seizures are clearly provoked by sleep deprivation. As in other types of idiopathic epilepsy, the patients’ neurological status is normal; no intellectual disabilities are observed. This type of epilepsy is well treatable and, when initial monotherapy is correctly used, sustainable remission occurs immediately in the vast majority (75–85 %) of the patients with JME. However, the problem of these patients, unlike that of patients with many forms of idiopathic epilepsy, is that sleep pattern disturbance, missing a dose of antiepileptic drugs (AED), or therapy refusal give rise to relapse of seizures in the vast majority of patients even in long-term remission. Due to the fact that the data available in the literature on the efficacy of therapy in patients with JME and particularly on the results of its discontinuation are contradictory, the authors of the paper conducted an investigation to determine therapeutic effectiveness and the frequency of relapse of seizures in patients with JME during a long-term follow-up. The study enrolled 106 JME patients who had been regularly followed up at the Saint Luka’s Institute of Pediatric Neurology and Epilepsy for 3 to 28 years (mean 8.6 years). The authors detailed the clinical characteristics of the disease and the results of the investigation in the observed patients. The investigation showed that JME was the second common type (next to rolandic epilepsy) among all idiopathic epilepsies. Clinical remission lasting 3 years or longer was achieved in the vast majority of cases (89.6 %); however, clinical and electroencephalographic remission was in only 22 % of the patients. Treatment was not absolutely ineffective in any of the cases. Monotherapy for JME was used in most patients (79 %), duotherapy in 17 % and polytherapy (3 AEDs) in 4 %. Valproate was most commonly used as monotherapy for JME (56 %); levetiracetam and topiramate were more rarely in 13 and 8 %, respectively. Unfortunately, despite the high effect of treatment, the recurrence rate during or after discontinuation of AED therapy (which was gradually done under guidance of video-assisted electroencephalographic monitoring at least 3–4 years after remission) was very high (92 %). The recurrence risk was highest when the dose was reduced by more than 50 % and within the first year after therapy discontinuation. Multiple attempts to discontinue the treatment were made at an interval of an average of 4.3-years of remission in a number of patients. The authors identified a number of factors increasing the recurrence risk after withdrawal of an AED.

Evaluation of Executive Functions in Patients With Childhood Absence Epilepsy.

The aim of this study was to evaluate the executive function of patients with typical absence epilepsy. 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. 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). Long-term risk for learning impairments, failure in executive abilities, and short-term memory and attention disorders can occur in children with absence epilepsy.

CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY

The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latter occurring in more than one-third of the patients. However, typical absences are not the predominant seizure type, and are usually very mild and simple (with no automatisms or localized limb jerks). Juvenile myoclonic epilepsy usually appears in adolescents between 12 and 18 years old. Half of patients with this condition have relatives with epilepsy. The genetic basis of this syndrome is complex and the mechanism of transmission is unclear. It is possible that several different genes are responsible. The authors presented the review of results modern clinical and genetic studies of juvenile myoclonic epilepsy. Information obtained from this review strongly suggests a heritable condition that merits further investigation.

Typical Absence Seizure Similarity to “Shokhous” in Iranian Traditional Medicine

Dear Editor, In allopathic medicine, absence seizure is a kind of generalized seizure characterized by sudden, brief lapses of consciousness without loss of postural control (1, 2). Typical absence only lasts for a few seconds and consciousness returns suddenly as it was lost, without postictal confusion (3). “Shokhous” or “Jomoud” in Iranian traditional medicine is a disease in which patients suddenly lose their sensations and movements and they look as if they are slept. The patients keep their posture and their eyes open or close the same as before attack, but usually are open and fixed. If you talk to them, they do not understand or respond. Feeding or awakening them is impossible even by force. These attacks occur in a short time (4). According to the Avicenna, sensations completely vanish, but movements remain, because patients can breathe normally (5). In Iranian traditional medicine, “Shokhous” is not classified as a kind of seizure but as a sleep disorder (4). “Shokhous” signs are similar to signs of typical absence seizure, therefore, they might be the same disease; however, in absence seizure diagnosis, EEG is an important criterion (2, 6), and there was not EEG in ancient age. In most traditional medicine references, “Shokhous” is caused by a “soddeh” (meaning obstruction), in the posterior ventricle placed in the back part of brain. The substance known as “soda” (black bile) leads to this obstruction (4). According to Iranian traditional medicine, there are 4 basic qualities in body elements: warmth, coldness, moisture, and dryness (5). The body is composed of 4 humors (blood, phlegm, yellow bile, and black bile) and its health is based on the right proportion and specific balance of humors according to their quality and quantity. Each of them is similar to one of the 4 elements (air, water, fire, and earth) in the temperament and its activity. The black bile is similar to earth element and has some characteristics like stability, rigidity, and hardness. Black bile is divided into two categories: normal black bile and abnormal black bile. Any decrease of normal black bile in the body leads to rise in abnormal black bile, which causes a disorder (7, 8). In “Shokhous,” abnormal black bile rises in the brain and causes higher than normal dryness and coldness (4). Differential diagnosis of “Shokhous” in Iranian traditional medicine comprises the following diseases: “Sar” (tonic-clonic seizure): The attack of “Sar” causes patients to squirm and produce convulsive movements; but “Shokhous” does not cause movement, on the contrary, it stops body movements for a few seconds. “Sobat” (stupor): In “Sobat,” eyes are closed, it does not start and finish suddenly. The patient takes time to return to its normal state, and we can force the patient to understand or talk during “Sobat.” On the contrary, in “Shokhous” eyes are often open, it starts and finishes abruptly, it lasts a short time and if you talk to them, they do not understand or answer. “Sadare khaderi” (orthostatic hypotension): Dizziness unlike “Shokhous” is the main symptom of this disease. “Sekte” (stroke): Unlike “Shokhous,” force-feeding is possible in “Sekte.” “Sarsame bared” (a kind of meningitis): Patients can move eyes, close eyelids, change the posture, even speak a little, and there is fever in this disease but none of these signs and symptoms are reported in the “Shokhous” attack (4). Treatment In the allopathic medicine, valproic acid, ethosuxsimide, and lamotrigine are the drugs of choice to control absence seizures (9, 10). In Iranian traditional medicine, treatment is divided into two parts: prevention and therapy. Prevention consists of not eating some foods like eggplant, marinades, mushroom, and cabbage which produce more “soda” in the patient’s body. Therapy comprises enema with herbals such as “aftymoun” (Cuscuta epithymum), “basfayej” (Polypodium vulgare), “halile” (Terminalia chebula), and “ghariqoun” (Polyporus officinalis). According to the Iranian traditional medicine, these plants are used because of their special ability to extract “soda.” Also enema is more useful to cleanup brain but this treatment is helpful when body is strong enough. If energy is insufficient, enema with “Mae nokhale” (water bran), “varaghe salgh” (beet leaf), and dissolved oil, something like “booragh” (a kind of mineral), and “shahme hanzal” (Citrullus colocynthis) or other “ayarajate moshele” soda that are usable to extract soda, are helpful (4). According to this study, more research is suggested to assess the effect of this treatment in Iranian traditional medicine.

Frequency of Juvenile Myoclonic Epilepsy Clinical Phenotypes in Siberia

Juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.

Voxel-based morphology study of idiopathic generalized epilepsy patients with typical absence seizure

Objective To observe the alterations in brain gray matter volume(GMV) in idiopathic generalized epilepsy(IGE) patients with typical absence seizure. Methods Nine IGE patients with typical absence seizure and 16 healthy volunteers were prospectively recruited from People's Hospital of Zhengzhou University from September 2012 to January 2014.By using a 3.0T magnetic resonance imaging(MRI) and voxel-based morphometry (VBM) method, their whole brain structures and their brain GMV were scanned and analyzed, respectively, then the changes in GMV were observed. Results Compared with healthy control group, brain GMV extensively decreased in IGE patients with typical absence seizure.Thirteen regions with significant differences were as follows: the right rectal gyrus(t=3.13, P<0.01), the left rectal gyrus(t=4.82, P<0.01), the right calcarine/cuneus/gyrus lingualis/occipital gyrus/inferior occipital gyrus(t=6.86, P<0.01), right gyrus lingualis(t=4.01, P<0.01), the left gyrus lingualis/inferior occipital gyrus(t=3.73, P<0.01), the left inferior occipital gyrus/gyrus lingualis(t=5.42, P<0.01), the left middle occipital gyrus(t=3.76, P<0.01), the right middle occipital gyrus/superior occipital gyrus/middle temporal gyrus(t=3.85, P<0.01), left middle temporal gyrus/superior temporal gyrus(t=5.06, P<0.01), the right precuneus/cuneus(t=3.33, P<0.01), and the right superior parietal lo-bule(t=3.66, P<0.01), right precentral gyrus(t=3.44, P<0.01), right superior frontal gyrus/paracentral lobule/supplementary motor area(t=3.50, P<0.01). However, GMV increase was not found. Conclusions Brain GMV extensively decreased in 13 brain regions of IGE patients with typical absence seizure, and among them occipital lobe is the most significant. Key words: Absence seizure; Epilepsy, generalized; Magnetic resonance imaging; Voxel-based morphology

Lamotrigine monotherapy for newly diagnosed typical absence seizures in children: A multi-center, uncontrolled, open-label study

PurposeTo evaluate the efficacy and safety of lamotrigine (LTG) monotherapy for treating Japanese and South Korean pediatric patients with newly diagnosed typical absence seizures. MethodsTwenty patients with newly diagnosed typical absence seizures aged 4–12years were enrolled in the study and were administered LTG at an initial dose of 0.3mg/kg/day for 2weeks, followed by 0.6mg/kg/day for an additional 2weeks. Thereafter, the dose was increased by 0.6mg/kg/day up to a maximum of 10.2mg/kg/day or 400mg/day (whichever was the lower dose) until patients were confirmed to be seizure free induced by hyperventilation (HV). After confirmation, the dose was increased by one level (0.6mg/kg/day). If the patient was found to be seizure free by HV-electroencephalography (EEG) on the following two consecutive visits, the patient entered the 12-week maintenance phase. After the maintenance phase, patients could enter the extension phase if clinically indicated. ResultsThe seizure-free rate confirmed by HV-EEG at the end of the maintenance phase was 35.0% (7/20 patients). Most of patients who were confirmed to be seizure free during the escalation phase had maintained seizure control during the 12-week maintenance phase and the 12-week extension phase. The most frequently noted adverse events were bronchitis, headache, and rash (20% each). No serious adverse events were reported. ConclusionLamotrigine monotherapy in Japanese and South Korean children with typical absence seizures was well tolerated and 35.0% of patients were seizure free at the end of maintenance phase.

Hyperammonemia of unknown origin

Idiopathic portal hypertension is a benign long-standing non-cirrhotic portal hypertension with no typical laboratory findings and absence of stigmata of chronic liver disease. The disease is diagnosed by the presence of evidence of portal hypertension with preserved liver function and absence of extrahepatic portal vein obstruction. We report the case of a 71-year-old woman who was admitted in hospital with encephalopathy and hyperammonemia. Liver biochemical tests excluded cirrhosis but revealed pancytopenia; preliminary abdomen ultrasound was normal. Ultrasound doppler and abdomen computed tomography of portal vein revealed patent portal vein with impaired portal intrahepatic perfusion and portal-systemic shunts.

Electroclinical syndromes of idiopathic generalized epilepsies in adults

Idiopathic generalized epilepsies (IGE) accounting for 20–40% of all epilepsies. International League against Epilepsy (ILAE) Classification recognizes three main IGE subsyndromes that are manifested in adults: juvenile absence epilepsy (JAE); juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures only (EGTCSO). JAE is mainly manifested with typical absence seizures (TAS), 80% of patients suffer from GTCS, and 20% have myoclonic jerks (MJ). JME is the most common IGE subsyndrome, characterized by MJ on awakening, GTCS in nearly all patients, and TAS in a third of them. EGTCSO with GTCS occurring predominantly on awakening is probably life-long disease with a high incidence of relapse on withdrawal of treatment. Some types of IGE have not yet been recognized by the ILAE: (1) Jeavons syndrome – a purely reflex IGE predominantly manifested with eyelid myoclonia and electroencephalogram (EEG) abnormalities on eye closure, (2) perioral myclonia with absences, (3) IGE with phantom absences – a type of mild absences before the first GTCS, that usually occurs in adulthood. Both perioral myoclonia with absences and phantom absences are clinically significant because they are probably life-long and are associated with a very high incidence of absence status epilepticus that may escape diagnosis and appropriate treatment.

A Comatose Patient with Continuous Generalized 3 Hz Spike-and-Wave Discharges after Cardiac Arrest

The electroencephalogram exhibits continuous epileptiform discharges in many advanced coma stages, described as comatose nonconvulsive status epilepticus (NCSE). Comatose NCSE might represent an irreversible brain damage, but its causal role remains unclear. We experienced a comatose patient with continuous generalized 3 Hz spike-and-wave discharges after cerebral anoxia, which is a quiet similar electroencephalographic pattern of typical absence status epilepticus. This case indicates that NCSE in comatose patients may be overdiagnosed if the diagnosis is based on electroencephalographic alterations alone. Key Words: Nonconvulsive status epilepticus, Absence status epilepticus, Coma

Day dreaming and childhood preoccupation

All doctors caring for children with paroxysmal disorders know that an important differential diagnosis for absence seizures (both typical in the ‘normal’ child and atypical in the child with neurodevelopmental problems) and to a lesser extent complex focal seizures is daydreaming and childhood preoccupation. Indeed when, in preparation for writing this report, I audited over a four month period those children referred for ‘blank episodes’ and similar concerns to my rapid access epilepsy clinic where I see patients with suspected new-onset seizures, I made a diagnosis of epilepsy in 5 cases and of probable day dreaming / childhood preoccupation in another 5. However, with the exception of brief references to daydreaming/preoccupation in textbooks, usually in the context of considering the differential diagnosis of typical absence seizures, there is virtually nothing published on this subject. A Medline search of ‘day dreams’, ‘day dreaming’ and ‘preoccupation’ yields very few hits and none are relevant to the consideration of the differential diagnosis of paroxysmal events in children. What follows, therefore, is personal opinion, albeit from a clinician who has a special interest in absence seizures in children.