Heart Failure (HF) is characterized by activation inflammatory mediators that contributes to the disease progression. Brain natriuretic peptide (BNP) plasma levels increase in HF with a prognostic significance. The aim of this study was to evaluate the expression and activity of inducible nitric oxide synthase (iNOS) in peripheral blood mononuclear ...

Background: It is yet to be established which factors are responsible for differences among patients with the same degree of coronary artery disease in terms of coronary collateral development (CCD). Methods: Patients who had a greater than or equal to 95% stenosis in at least one epicardial coronary artery were ...

Δ(1)-Pyrroline-5-carboxylate synthetase (P5CS) catalyzes the first two steps of ornithine/proline biosynthesis. P5CS deficiency has been reported in three families, with patients presenting with cutis/joint laxity, cataracts, and neurodevelopmental delay. Only one family exhibited metabolic changes consistent with P5CS deficiency (low proline/ornithine/citrulline/arginine; fasting hyperammonemia). Here we report a new P5CS-deficient patient ...

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked disorder caused by activating mutations in arginine vasopressin receptor 2 (AVPR2), resulting in persistently concentrated urine. We report on a family affected by NSIAD with the known mutation R137C, an arginine to cysteine substitution at amino acid 137. The spectrum of ...

Background: Citrulline is a nonessential amino acid produced solely in the enterocyte. Plasma citrulline concentration has been proposed as a noninvasive biomarker for bowel length, function, and dependency on parenteral nutrition (PN). The purpose of this study was to determine if citrulline concentrations differed between pediatric patients with and without ...

Background: Endothelial dysfunction (ED) is relevant for the development of cerebrovascular and cardiovascular diseases. Asymmetric dimethylarginine (ADMA) competes with L-arginine and has been implicated in the development of ED. Increased levels of ADMA have been found in chronic heart failure (CHF). We hypothesized that peripheral ED in acute ischemic stroke ...

Patients undergoing chronic hemodialysis have a high risk of arterial thrombotic events as well as vascular access thrombosis (VAT). The latter complication has been consistently associated with inherited (i.e., the prothrombin 20210 polymorphism, and polymorphisms in the genes encoding for transforming growth factor-β1, nitric oxide synthase, plasminogen activator inhibitor-1, angiotensin ...

6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most frequent form of tetrahydrobiopterin (BH4) deficiency related to hyperphenylalaninemia (HPA). PTPS deficiency may not only cause a typical phenylketonuric phenotype, but is also accompanied by various neurological signs and symptoms due to impaired synthesis of catecholamines and serotonin. The treatment of PTPS deficiency ...

Methylarginines have been shown to interfere with nitric oxide (NO) formation by inhibiting NO synthase (asymmetric dimethylarginine, ADMA) and cellular L-arginine uptake into the cell (ADMA, and symmetric dimethylarginine, SDMA). In a recent study elevation of SDMA was related to long term mortality in patient recruited 30 days after a ...

6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most frequent form of tetrahydrobiopterin (BH4) deficiency related to hyperphenylalaninemia (HPA). PTPS deficiency may not only cause a typical phenylketonuric phenotype, but is also accompanied by various neurological signs and symptoms due to impaired synthesis of catecholamines and serotonin. The treatment of PTPS deficiency ...

BACKGROUND: X-linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter (CTP) encoded by the SLC6A8 gene. PATIENTS AND METHODS: We report here a series of six patients with severe CTP deficiency, four males and two females; clinical presentations include mild to severe mental retardation (6/6), associated ...

BACKGROUND: It is important to define callus maturation and corticalization during distraction osteogenesis. Quantitative methods such as ultrasound and Q-computed tomography are sensitive but expensive. The pixel value ratio (PVR) obtained using a PACS (picture archiving and communication system) is a simple and cost-effective investigation tool. Recently, the issue of ...

This study looked at clinical and histological outcomes of patients treated with Integra more than 2 years earlier. Although previous studies have investigated the short-term clinical and histological results, there have been no studies to investigate longer-term changes. Fourteen patients (23 sites) were assessed. Patients used a visual analogue scale ...

Tuberous sclerosis complex (TSC) is a multi-systemic disorder that involves primarily CNS, skin, kidney and heart. The aim of this study is to determine whether seizures type, interictal EEGs and tubers burden in MRI are correlated to seizure and intellectual outcome, and to identify the clinical risk factors for mental ...

Background:  The aim of this study was to analyze the epidemiologic, clinical, and evolutional characteristics in patients who presented convulsions with mild gastroenteritis (CwG) to facilitate the diagnosis in daily clinical practice. Methods:  Twenty-five medical records of patients diagnosed with CwG were reviewed, and the epidemiological and clinical features, results ...

Reported neurologic manifestations of novel H1N1 influenza have included seizure, meningoencephalitis, and acute necrotizing encephalopathy. We describe the first series of pediatric patients presenting during the second wave of the US novel H1N1 pandemic, with protracted seizures, severe encephalopathy/encephalitis, and acute disseminated encephalomyelitis. In addition to prominent radiographic abnormalities, we ...

To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types ...

Clinical evidence, in particular the wide use of theophylline as a bronchodilator, suggests that methylxanthines can cause seizures in patients without known underlying epilepsy. Theophylline is also known to be an added risk factor for seizure exacerbation in patients with epilepsy. The proconvulsant activity of methylxanthines can best be explained ...

Several factors have been reported to affect liver regeneration after portal vein embolization (PVE); however, the effect of sinusoidal obstruction syndrome (SOS) has not been evaluated. Therefore, we assessed the effect of SOS on liver regeneration after PVE in patients with multiple bilobar colorectal liver metastases scheduled to undergo two-stage ...

Sudden unexpected death in epilepsy (SUDEP) accounts for approximately 1 in 5 deaths in patients with epilepsy, but its cause remains unexplained. A recorded seizure resulting in death in our center appeared to suggest that postictal generalized electroencephalographic (EEG) suppression (PGES) and apnea are implicated in SUDEP. Our objective was ...

Background:  We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub-acute illness resembling encephalitis. Methods:  This is a retrospective study. An acute phase (encephalitis/encephalopathy period) and a chronic phase (chronic focal resistant epilepsy) were defined. Results:  Eight patients were enrolled. The median age at ...

We report a patient with a history of rare generalised tonic-clonic seizures and recurrent absence status who was diagnosed with a rare variant of idiopathic generalised epilepsy and absence status epilepsy. No other pathology was identified and MRI was normal. During a follow-up of 17 years, we recorded a single ...

Using intracranial electroencephalographic recordings, we identified a distinct brain activity in 3 patients with refractory epilepsy characterized by very early occurrence from 8 minutes 10 seconds to 22 minutes 40 seconds prior to clinical seizure onset, periodical appearance of slow negative baseline shift, long interpeak interval of 40 to 120 ...

We discuss the effectiveness, tolerability, and safety of vagus nerve stimulation (VNS) as adjunctive therapy in 26 patients with refractory epileptic encephalopathies (EEs). Twenty-six patients (17 male and 9 female) with electroclinical features compatible with Lennox-Gastaut syndrome (LGS) in 20 patients, Dravet syndrome (DS) in 3 patients, and epilepsy with ...

To investigate if phenotypic variations have prognostic implications in juvenile myoclonic epilepsy (JME). Sixty-five consecutive JME patients had video-EEG recording and were followed for at least three years. Reflex traits were defined as seizures and/or EEG discharges induction by eye-closure, photic stimulation, language, praxis or calculation. Patients had psychiatric evaluation ...

High frequency oscillations (HFOs) can be recorded with depth electrodes in focal epilepsy patients. They occur during seizures and interictally and seem important in seizure genesis. We investigated whether interictal and ictal HFOs occur in the same regions and how they relate to epileptiform spikes. In 25 patients, spikes, ripples ...

Automated seizure detection ushers the prospect for issuance of warning, but to benefit from it, patients must be responsive when warnings are issued. By use of a complex reaction time test triggered by a seizure detection algorithm, the latency to impairment of responsiveness was measured during seizure versus interictal conditions ...

Seizures related to nonketotic hyperglycemia (NKH) are often encountered in clinical practice. Among such seizures, reflex seizures are rare, and most of them are movement-induced focal seizures. We describe five patients with NKH and reflex seizures induced exclusively by playing Mah-Jong, a traditional and popular game in Chinese society. Four ...

Ictal respiratory dysfunction occurs in patients with epilepsy and may contribute to sudden unexplained death in epilepsy (SUDEP). Fluoxetine reverses respiratory arrest in a mouse model of epilepsy, suggesting that selective serotonin reuptake inhibitors (SSRIs) may reduce ictal respiratory dysfunction. Video–electroencephalography (EEG) and pulse oximetry data from 496 seizures in ...

The main feature of akinetic seizures is the inhibition of voluntary movements without impairment of awareness. Most clinical information about akinetic seizures has been obtained from cortical electrical stimulation studies, whereas clinical and video-electroen-cephalography (EEG) features have not been described thoroughly. We aimed to analyze clinical and EEG characteristics of ...

To use spectral analysis to assess the autonomic activity of epileptic patients compared with normal patients, and to assess the clinical usefulness of the applied methods of signal processing. Forty-eight patients with generalized tonic-clonic seizures and who were not taking any medications, and 48 age and gender matched controls participated ...

Aims Varying linguistic profiles between patients with epilepsy and patients with non-epileptic attack disorder (NEAD) may reflect underlying variations in subjective seizure experience (Plug et al 2009). We hypothesised that exploration of subjective seizure symptoms could enhance knowledge of the differing natures between epilepsy and NEAD. We performed a quantitative ...

Characterization of seizure semiology in patients with hypothalamic hamartoma (HH) based on video-electroencephalography (EEG) monitoring (VEM). We retrospectively analyzed seizure semiology of 31 patients (20 male, mean age 23.5 years) who underwent VEM at the University Hospitals Freiburg or Heidelberg, Germany. Inclusion criteria were magnetic resonance evidence of an HH, ...

The prevalence of epilepsy in multiple sclerosis (MS) patients has been a subject of interest for some years. The objectives of this study were to describe the clinical, radiological and electroencephalographic characteristics of epileptic seizures and to calculate the prevalence of epilepsy in a case series of MS patients. Medical ...

To assess the preventive effect of sodium valproate on early posttraumatic seizures in traumatic brain injury (TBI) patients. The retrospective study was based on 159 patients with TBI treated at Department of Neurosurgery, Nanjing General Hospital of Nanjing Command enrolled between January 1, 2008 and December 31, 2009. The in-hospital ...

To evaluate the diagnostic accuracy of 2 quantitative EEG display tools, color density spectral array (CDSA) and amplitude-integrated EEG (aEEG), for seizure identification in the intensive care unit (ICU). A set of 27 continuous EEG recordings performed in pediatric ICU patients was transformed into 8-channel CDSA and aEEG displays. Three ...

Selective amygdalohippocampectomy (SAHE) yields 60-80% of patients with medically refractory mesial temporal lobe epilepsy seizure-free and seems to be equally effective compared to the more extended temporal lobe resections. The resection of the entire entorhinal cortex (EC) is of crucial importance to warrant complete seizure control for those patients. Thus, ...

Hyperventilation (HV) is considered to be one of the activation procedures that provokes epileptic potentials and clinical seizures. However, the true clinical yield of HV is not well established. We retrospectively reviewed the records of all patients admitted to JFK Hospital, Edison, New Jersey, between October 2001 and December 2004 ...

Seizures occur mainly in patients with cortical infarcts in the anterior circulation. Those related to a posterior circulation infarct (POCI) are considered rare. This study investigated the characteristics of patients with seizures related to a POCI. A total of 180 consecutive patients admitted with a POCI had a 2- to ...

OBJECTIVES: To test the hypothesis that neuropsychiatric symptomatology is predictive of the success of seizure control in patients newly treated with antiepileptic drugs (AEDs), and that this predictive value adds to that provided by other clinical, imaging, and genomic factors in a multivariate model. METHODS: One hundred seventy newly treated ...

OBJECTIVE: To analyze the electroclinical features and evolution of seven infants with benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE). MATERIAL AND METHODS: Seven patients were examined at our department between February 2003 and February 2009, with onset of seizures between six and 13 months of ...

Central nervous system dysfunction, such as hyperexcitation, irritability, and disturbance of consciousness, may occur in patients with thyrotoxicosis. There are also a few case reports of seizures attributed to thyrotoxicosis. The objective of the present study was to determine the prevalence of seizures that appeared to be related to the ...

To determine if posttraumatic nonconvulsive electrographic seizures result in long-term brain atrophy. Prospective continuous EEG (cEEG) monitoring was done in 140 patients with moderate to severe traumatic brain injury (TBI) and in-depth study of 16 selected patients was done using serial volumetric MRI acutely and at 6 months after TBI. ...

A retrospective analysis of 43 patients with drop attack seizures who were treated with vagus nerve stimulation (VNS) was undertaken to determine the efficacy of VNS and to determine pre-implantation characteristics associated with VNS success. It was found that on last follow-up, 46% of patients had at least a 75% ...

Although seizures are rarely encountered in Wilson's disease (WD), seizures related to hypocupremia have not been reported before. We report a patient presenting with partial status epilepticus who was on strict low-copper diet and chelating therapy for WD. Despite other rare causes of seizures in WD including penicillamine-induced pyridoxine deficiency, ...

This paper evaluates the patient-specific seizure prediction performance of pre-ictal changes in bivariate-synchrony between pairs of intracranial electroencephalographic (iEEG) signals within 15min of a seizure in patients with pharmacoresistant focal epilepsy. Prediction horizons under 15min reduce the durations of warning times and should provide adequate time for a seizure control ...

This study aims to examine the outcomes of ten patients after orbitozygomatic (OZ) pterional surgery in cases of refractory epilepsy caused by hypothalamic hamartomas (HH). Ten patients with HH and treatment-resistant epilepsy (mean age 18.3 years, range 0.7 to 42.7) underwent HH resection with an OZ approach (n = 8) or an OZ ...

Posterior reversible encephalopathy syndrome (PRES) is characterized by seizures, headaches, altered mental status, cortical blindness and typical transient lesions on magnetic resonance imaging. We describe seven childhood cancer patients with clinical and radiological symptoms of PRES, and reviewed all well-documented PRES cases reported during childhood cancer treatment. Fifty-six children with ...

The objective of our study was to gain further insight into the extent of local metabolic alterations in patients with idiopathic generalised epilepsy (IGE), respectively, the subgroup with generalised tonic-clonic seizures (GTCS). The extent of regional metabolic involvement perhaps indicates the key structures in generation of seizures and involvement of ...

Seizures are one of the most important neurological complications of bacterial brain abscesses. A better understanding of the risk factors of seizures following bacterial brain abscesses is needed to predict those who will require treatment. A total of 205 patients were enrolled in this 22-year retrospective study. Prognostic variables were ...