Quantification of Zonisamide in Dried Blood Spots and Dried Plasma Spots by UPLC-MS/MS: Application to Clinical Practice.

In this research, a UHPLC-MS/MS method was developed and validated for the determination of zonisamide in dried plasma spots (DPS) and dried blood spots (DBS). Detection of zonisamide and internal standard, 1-(2,3-dichlorphenyl)piperazine, was carried out in ESI+ mode by monitoring two MRM transitions per analyte. Total run time, less than 2.

New-onset seizure presenting as status epilepticus: Etiology and clinical characteristics in a cohort of 236 children.

Purpose: Evaluation of the etiology, clinical characteristics and outcome of the first status epilepticus (fSE) event in children.

Method: The patients with fSE hospitalized in our Institute from 1995 to 2011 were included. The etiology was characterized as either known (symptomatic) or unknown (cryptogenic).

Long-term use of methylphenidate in a boy with hypothalamic tumor, drug-resistant epilepsy and ADHD.

•We report the successful treatment of a boy with hypothalamic tumor, gelastic seizures, drug-resistant epilepsy and ADHD•The use of methylphenidate significantly reduced symptoms of ADHD while seizure frequency remained unchanged.

Genetics of Lafora progressive myoclonic epilepsy: current perspectives.

Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long, linear, poorly branched, hyperphosphorylated, insoluble form of glycogen.

Prognostic value of the DNMTs mRNA expression and genetic polymorphisms on the clinical outcome in oral cancer patients.

Objectives: Although the importance of the epigenetic changes in tumors, including oral squamous cell carcinomas (OSCCs), is now becoming apparent, the mechanisms that trigger or cause aberrant DNA methylation in cancer are still unrevealed. DNA methylation is regulated by a family of enzymes, DNA methyltransferases (DNMTs). DNMT gene expression analysis, as well as genetic polymorphisms, has not been previously evaluated in OSCC.

GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study.

Purpose: Oxidative stress is recognized as an important factor in progressive myoclonus epilepsy (PME). Genetic polymorphism of glutathione S-transferases (GSTs), which are involved in both protection from oxidative damage and detoxification, might alter the capacity for protecting tissues from exogenous and endogenous oxidants. We aimed to assess a possible association between GST polymorphism and PME, as well as, correlation between GST genotypes and oxidative phenotype in PME patients.

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.

Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were assessed using the American Academy of Neurology Guidelines and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system.

Quantitation of pregabalin in dried blood spots and dried plasma spots by validated LC-MS/MS methods.

In this paper, novel LC-MS/MS methods for the determination of antiepileptic drug pregabalin in dried matrix spots (DMS) are presented. This attractive technique of sample collection in micro amount was utilized in the form of dried blood spots (DBS) and dried plasma spots (DPS). Following a pre-column derivatization procedure, using n-propyl chloroformate in the presence of n-propanol, and consecutive liquid-liquid extraction, derivatized pregabalin and its internal standard, 4-aminocyclohexanecarboxylic acid, were detected in positive ion mode by applying two SRM transitions per analyte.

Terminal remission is possible in some patients with juvenile myoclonic epilepsy without therapy.

Introduction: Juvenile myoclonic epilepsy is considered to be a chronic disease requiring lifelong antiepileptic treatment. The aim of this study was both to identify factors predicting the kind of seizure control and to investigate the outcome in patients after therapy withdrawal.

Material And Methods: The study included 87 patients (49 female, 38 male), aged from 17.

The miracle of the black leg: E astern neglect of Western addition to the hagiography of Saints Cosmas and Damian.

The Christian miracle tales strongly support the identification of Sts. Cosmas and Damian as doctors. The most famous of the saints' posthumous miracles, is that of the Black Leg.

Cephalometric analysis of the middle part of the face in patients with mandibular prognathism.

Background/aim: The middle part of the face, that is the maxilla, has always been mentioned as a possible etiologic factor of skeletal Class III. However, the importance of the relationship of maxillary retroposition towards the cranial base is still unclear, although it has been examined many times. The aim of this study was to conduct cephalometric analysis of the morphology of maxilla, including the whole middle part of the face in patients with divergent and convergent facial types of mandibular prognathism, as well as to determine differences betweeen them.

Rare Disease: Lobar Holoprosencephaly With a Median Cleft Lip-Case Report.

Holoprosencephaly is a complex malformation of the brain associated with the median facial defects. Variability of the clinical picture is the characteristic of this anomaly. In most cases, the degree of severity of the facial anomaly correlates with the degree of damage to the brain.

Presurgical orthodontic treatment of patients with complete bilateral cleft lip and palate.

Introduction: Cleft lips and palates are the most common congenital orofacial anomaly. This type of clefts is the most severe from the orthodontic-surgical therapy aspect.

Case Report: A female newborn with a complete cleft of the primary and the secondary palate was admitted to the clinic, where a multiple-role orthodontic device was specially designed and applied to primarily manage the closure of the existing cleft and help to improve the suckling ability of the baby.

A cephalometric analysis of the cranial base and frontal part of the face in patients with mandibular prognathism.

Background/aim: The literature suggests different views on the correlation between the cranial base morphology and size and saggital intermaxillary relationships. The aim of this study was to investigate the cranial base morphology, including the frontal facial part in patients with mandibular prognathism, to clarify a certain ambiguities, in opposing viewspoints in the literature.

Methods: Cephalometric radiographies of 60 patients were analyzed at the Dental Clinic of the Military Medical Academy, Belgrade, Serbia.

L-2-Hydroxyglutaric aciduria: a case report.

Introduction: L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma. In this condition clinical features mainly consist of mental deterioration, ataxia and motor deficits.

Case Outline: The patient is a 16-year-old girl, the first and only child of healthy, non-consanguineous parents of Serbian origin.

Vigabatrin in dried plasma spots: validation of a novel LC-MS/MS method and application to clinical practice.

This paper presents a LC-MS/MS method for the determination of antiepileptic drug vigabatrin in dried plasma spots (DPS). Due to its zwitterionic chemical structure, a pre-column derivatization procedure was performed, aiming to yield enhanced ionization efficiency and improved chromatographic behaviour. Propyl chloroformate, in the presence of propanol, was selected as the best derivatization reagent, providing a strong signal along with reasonable run time.

[Chlorpromazine-induced status epilepticus: a case report].

Introduction: It is largely known that some antipsychotic agents could have proconvulsive and proepileptogenic effects in some patients and could induce EEG abnormalities as well. However, the association of status epilepticus with certain antipsychotic drugs has been very rarely reported.

Case Report: A case of an 18-year-old adolescent girl, with chlorpromazine therapy started for anxiety-phobic disorder was reported.

Outcome prediction of initial lamotrigine monotherapy in adult patients with newly diagnosed localization related epilepsies.

Objective: To develop and test model to predict outcome of treatment with initial lamotrigine monotherapy in adult patients with newly diagnosed localization - related epilepsy, using data available at the time of diagnosis.

Methods: Prospective longitudinal study included consecutive series of adult patients with newly diagnosed localization - related epilepsy started of lamotrigine monotherapy. Logistic regression analysis using backward procedure was performed with treatment failure as the outcome variable.

Epilepsy in children with subacute sclerosing panencephalitis.

Introduction: Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, fatal neurodegenerative disease of childhood and early adolescence caused by defective measles virus. The initial symptoms of SSPE usually involve regression in cognitive functioning and behavior or recurrent myoclonic jerks. Seizures revealing SSPE and epilepsy during the clinical course can occur.

Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.

Lafora disease (LD) is a severe, autosomal recessive, latechildhood- to teenage-onset, progressive myoclonic epilepsy. It is due to either EPM2A or NHLRC1 mutations. We describe a patient with homozygous deletion encompassing the entire NHLRC1 gene, not previously reported, and with clinical course more progressive than in the most patients with NHLRC1 mutations.

Etiology, clinical features and outcome of epilepsia partialis continua in cohort of 51 children.

The objective of the study was to evaluate etiology, clinical characteristics and outcome in children with epilepsia partialis continua (EPC). The investigation included 51 children with EPC aged 0.2-18 years treated in the period 1993-2009.

Association of VEGF-A genetic polymorphisms with cancer risk and survival in advanced-stage oral squamous cell carcinoma patients.

Background: Vascular endothelial growth factor (VEGF), a key mediator of angiogenesis, is overexpressed in a wide variety of human cancers, including oral squamous cell carcinoma (OSCC). In this study, we examined whether individual polymorphisms within VEGF-A gene, rs699947 (-2578C/A), rs1570360 (-1154G/A), rs2010963 (-634G/C), rs3025039 (+936C/T) or their haplotypes are associated with an oral cancer risk and survival.

Methods: A case-control study was conducted on 114 OSCC patients and control group of 126 individuals without a previous cancer history, all the Caucasian race and the same ethnicity, matched by age and gender.

[Significance of pathohistological findings and the expression of Bcl-2 in diagnosis and treatment of oral planocellular carcinoma].

Background/aim: Numerous studies were aimed to detect and characterize various tumor markers in patients with oral planocellular carcinoma in order to reduce moratlity and mobidity rates of these patients, as well as to establish the correlation between the expression of specific tumor marker and prognostic outcome. The aim of this study was to determine patohistological characteristics of tumor and peritumor tissue in patients with oral planocellular carcinoma, with special regard to the expression of Bcl-2, as well as to point out the significance of clinicomorphological correlations for clinical use.

Methods: Sixty-two patients with oral planocellular carcinoma, stage II and III, were examined.

Withdrawal of antiepileptic drugs in young patients with cryptogenic focal epilepsies.

Purpose: The goal of the study was to assess the outcome of antiepileptic drug (AED) withdrawal in children and adolescents with cryptogenic focal epilepsies (CFE).

Methods: Medical records of consecutive patients with CFE from two referral hospitals were retrospectively evaluated over a nine-year period. Inclusion criteria were: (1) diagnosis of CFE according to the ILAE criteria, (2) less than 16 years of age at onset of epilepsy, (3) established clinical remission of at least two years before AED withdrawal, and (4) follow-up period of at least two years after withdrawal (or until seizure relapse in patients who relapsed).

Vitamin D receptor, CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival.

Background: Genetic polymorphisms of vitamin D receptor gene (VDR) and genes involved in vitamin D metabolism pathway, CYP27B1 and CYP24B1, may affect individual susceptibility to oral squamous cell carcinoma. The purpose of this study was to evaluate the associations between VDR, CYP27B1 and CYP24A1 gene polymorphisms with oral cancer risk and survival.

Methods: Study cohort consisted of 110 patients with oral cancer and 122 healthy controls.