Improved accuracy and robustness of electron density profiles from JET's X-mode frequency-modulated continuous-wave reflectometers.

JET's frequency-modulated continuous wave (FMCW) reflectometers have been operating well with the current design since 2005, and density profiles have been automatically calculated intershot since then. However, the calculated profiles had long suffered from several shortcomings: poor agreement with other diagnostics, sometimes inappropriately moving radially by several centimeters, elevated levels of radial jitter, and persistent wriggles (strong unphysical oscillations). In this research, several techniques are applied to the reflectometry data analysis, and the shortcomings are significantly improved. Starting with improving the equilibrium reconstruction that estimates the background magnetic field, adding a ripple correction in the reconstructed magnetic field profile, and adding new inner-wall reflection positions estimated through ray-tracing, these changes not only improve the agreement of reconstructed profiles to other diagnostics but also solve density profile wriggles that were present during band transitions. Other smaller but also persistent wriggles were also suppressed by applying a localized correction to the measured beat frequency where persistent oscillations are present. Finally, the burst analysis method, as introduced by Varela et al. [Nucl. Fusion 46 S693 (2006)], has been implemented to extract the beat frequency from stacked spectrograms. Due to the strong suppression of spurious reflections, the radial jitter that sometimes would span several centimeters has been strongly reduced. The stacking of spectrograms has also been shown to be very useful for stacking recurring events, like small gas puff modulations, and extracting transport coefficients that would otherwise be below the noise level.

Association of high-sensitivity C-reactive protein with susceptibility to Schizophrenia in Tunisian population.

The pathogenic mechanisms underlying Schizophrenia (SZ), one of the most frequent mental disorders, are complex and poorly understood. Several evidences suggest that inflammatory processes may underpin some of its neurobiological correlates. The aim of this study was: (i) to analyze the potential association between circulating levels of the C-reactive protein (CRP), a crucial inflammatory marker, and Schizophrenia in Tunisian patients and healthy controls (HC) cohorts; (ii) to investigate the genetic diversity of three CRP variants (rs1417938, rs1130864 and rs1205) and; (iii) to analyze a potential relationship between expression and genetic data and clinical and socio demographical characteristics. CRP polymorphisms were exanimated for 155 patients and 203 HC by taqMan5'-nuclease. High-sensitivity CRP (hs-CRP) serum level was measured in 128 clinically stable out-patient SZ patients and 63 HC subjects via an automated biochemical analyzer. We found that hs-CRP levels were significantly higher in SZ patients as compared to HC. No significant differences were found when the proportions of CRP variants were compared in patients and HC. Further analysis according to clinical and socio demographical characteristics revealed a positive association with age and hypertension. Our data on an original Tunisian sample confirm the previous finding in others population groups.

The potential utility of high-intensity ultrasound to treat osteoarthritis.

Osteoarthritis (OA) is a widespread musculoskeletal disease that reduces quality of life and for which there is no cure. The treatment of OA is challenging since cartilage impedes the local and systemic delivery of therapeutic compounds (TCs). This review identifies high-intensity ultrasound (HIU) as a non-contact technique to modify articular cartilage and subchondral bone. HIU enables new approaches to overcome challenges associated with drug delivery to cartilage and new non-invasive approaches for the treatment of joint disease. Specifically, HIU has the potential to facilitate targeted drug delivery and release deep within cartilage, to repair soft tissue damage, and to physically alter tissue structures including cartilage and bone. The localized, non-invasive ultrasonic delivery of TCs to articular cartilage and subchondral bone appears to be a promising technique in the immediate future.

Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.

In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).

Tension suture technique combined with lidocain-adrenalin-saline-infiltration decreases complications in abdominoplasty.

BACKGROUNDS AND AIMS: Due to growing interest into body contouring has abdominoplasty become one of the most common aesthetic operations. New techniques have appeared to reduce the relatively high incidence of complications in abdominplasty. One technique is the tension suture technique, which can be combined with lidocain-adrenalin-saline-infiltration. Our aim was to analyse the results of this combined technique. MATERIAL AND METHODS: This retrospective study consisted of 95 women operated on in a private hospital by one senior plastic surgeon between years 2004 and 2009. Sixty patients had other operations in addition to abdominoplasty: 49 liposuctions, six breast reductions or mastopexies, three umbilical hernioplasties, one brachioplasty, one partial excision of labias, and one blepharoplasty. RESULTS AND CONCLUSIONS: The operative time was 82 minutes ranging from 45 to 173 minutes. Peroperative bleeding was a mean of 196 ml in abdominoplasty only and 254 ml when combined with additional operation. Patients did not have any major complications and the total incidence of minor--not clinically significant--complications was 12.6%. Obesity, smoking, comorbidities, previous operations on belly area or additional operations did not affect the complication rates. Our study supports the view that the tension suture technique combined with lidocain-adrenalin-saline-infiltration decrease the formation of seroma and wound complications in abdominoplasty. Lidocain-adrenalin-saline-infiltration also fastens and eases the operation without increasing the risk of bleeding in experienced hands.

A key to improved ion core confinement in the JET tokamak: ion stiffness mitigation due to combined plasma rotation and low magnetic shear.

New transport experiments on JET indicate that ion stiffness mitigation in the core of a rotating plasma, as described by Mantica et al. [Phys. Rev. Lett. 102, 175002 (2009)] results from the combined effect of high rotational shear and low magnetic shear. The observations have important implications for the understanding of improved ion core confinement in advanced tokamak scenarios. Simulations using quasilinear fluid and gyrofluid models show features of stiffness mitigation, while nonlinear gyrokinetic simulations do not. The JET experiments indicate that advanced tokamak scenarios in future devices will require sufficient rotational shear and the capability of q profile manipulation.

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy.

An adult case of eosinophilic pyloric stenosis maintained on remission with oral budesonide.

We describe an isolated eosinophilic pyloric stenosis in a young female. She was referred for abdominal pain, fever, weight loss and eosinophilia. A sonographic examination revealed a concentric pyloric stenosis, with antral palsy and ascites. The endoscopy confirmed the diagnosis of eosinophilic infiltration of the pylorum. After a short course of systemic steroids, the patient was switched to oral budesonide, which effectively maintained a long-term remission. Eosinophilic gastroenteritis limited to pylorum is exceptional in adults, and in our patient it was not associated with allergic other disorders. This case emphasizes the usefulness of sonografy for diagnosis and monitoring, and the clinical efficacy of oral budesonide.

Hippocampal MR Volumetric Studies in Paediatric Patients with Epilepsy and Normal Controls.

The aim of this study was to determine and compare the hippocampal volume in children with epilepsy and in children in a control group and to compare the mean of right and left hippocampal volume in control subjects. This study was carried out at University Sains Malaysia (USM) from January 2008 to June 2009. This is a cross sectional study of 40 children with epilepsy and 40 children in a control volunteer group. Serial MRI of brain and temporal lobe were performed using a Signa Horizon LX 1.0 Tesla system. Oblique coronal sections perpendicular to the axis of temporal lobe were done with 4 mm slice thickness and 1 mm gap. T1, T2, FLAIR and SPGR series were done. The whole hippocampal volume was measured. Volumetry was done manually by using Osirix workstation (v 3.5.1-64 bit). All slices were measured three times and the average volume was taken. Data were analyzed by paired t test and independent t test for univariate data. The mean hippocampal volume in the control group was 2.81 cm(3) (SD=0.38) and 2.65 cm(3) (SD=0.41) for right and left hippocampus respectively. The mean hippocampal volume in epilepsy patients was 2.47 cm(3) (SD=0.52) and 2.39 cm(3) (SD=0.44) for right and left respectively. The hippocampal volume in epileptic children was significantly smaller than normal control children in average volume (p=0.001) and both right (p=0.002) and left (p=0.007) individually. In the control group, the right hippocampus volume was much greater than the left (p<0.001). The data of this study provide a useful reference for the study of hippocampal volume in the Malay paediatric population. It is useful in doubtful cases to determine which side is affected and also serves as part of the study to establish the whole age-related hippocampal growth.

The anomalous currents in the front foils of the JET lost alpha diagnostic KA-2.

We have examined the observed currents in the front foils of the JET Faraday cup lost alpha particle diagnostic KA-2. In particular, we have sought to understand the currents during Ohmic plasmas for which the ion flux at the detectors was initially assumed to be negligible. We have considered two sources of this current: plasma ions (both deuterium and impurity) in the vicinity of the detector (including charge exchange neutrals) and photoemission from scattered UV radiation. Based upon modeling and empirical observation, the latter source appears most likely and, moreover, seems to be applicable to the currents in the front foil during ELMy H-mode plasmas. A very thin gold or nickel foil attached to the present detector aperture is proposed as a solution to this problem, and realistic calculations of expected fluxes of lost energetic neutral beam ions during TF ripple experiments are presented as justification of this proposed solution.

Influence of magnetic field ripple on the intrinsic rotation of tokamak plasmas.

Using the unique capability of JET to monotonically change the amplitude of the magnetic field ripple, without modifying other relevant equilibrium conditions, the effect of the ripple on the angular rotation frequency of the plasma column was investigated under the conditions of no external momentum input. The ripple amplitude was varied from 0.08% to 1.5% in Ohmic and ion-cyclotron radio-frequency (ICRF) heated plasmas. In both cases the ripple causes counterrotation, indicating a strong torque due to nonambipolar transport of thermal ions and in the case of ICRF also fast ions.

Older Age Group in Pregnancy is Associated with Increased Arterial Stiffness.

Arterial stiffness is an index of vascular health; normal pregnancy is associated with reduced arterial stiffness. This cross sectional study compared arterial stiffness in older (≥35 years) and the younger (≤34 years) age groups of pregnant women. Arterial stiffness was assessed noninvasively in 66 pregnant women between 23 - 32 weeks gestation (41 women ≤ 34 years, 25 women ≥ 35 years) using the parameters pulse wave analysis and pulse wave velocity. Blood pressure (BP), body mass index (BMI), serum total cholesterol (TC) and fasting blood glucose (FBS) were also recorded. Mean ages of the younger and older age groups were 27.6±0.62 and 39.3±0.58 years; no significant difference was seen between the groups in their BMI, TC, FBS, SBP, DBP and gestational age. The older age group of women have increased arterial stiffness (augmentation index 19.4±1.9% vs 13.2±1.6%, p=0.015) and aortic stiffness (pulse wave velocity 8.7±0.3 vs 7.7±0.2 m/s, p=0.004) compared to the younger women. Linear regression analysis showed a positive significant correlation between age and augmentation index (R=0.278, p=0.026), and pulse wave velocity (R=0.350, p=0.004). We conclude that older pregnant women has increased arterial stiffness compared to a younger age group of pregnant women suggesting that vascular changes due to ageing occurs in pregnancy despite cardiovascular adaptations occurring in pregnancy.

Experimental study of the ion critical-gradient length and stiffness level and the impact of rotation in the JET tokamak.

Experiments were carried out in the JET tokamak to determine the critical ion temperature inverse gradient length (R/LTi=R|nablaTi|/Ti) for the onset of ion temperature gradient modes and the stiffness of Ti profiles with respect to deviations from the critical value. Threshold and stiffness have been compared with linear and nonlinear predictions of the gyrokinetic code GS2. Plasmas with higher values of toroidal rotation show a significant increase in R/LTi, which is found to be mainly due to a decrease of the stiffness level. This finding has implications on the extrapolation to future machines of present day results on the role of rotation on confinement.

Radiofrequency ablation of hepatocellular carcinoma in patients with and without cirrhosis.

INTRODUCTION: Hepatocellular carcinoma (HCC) is a leading cause of death in patients with cirrhosis. Around 12% of all cases are associated with chronic liver disease without cirrhosis. The aim of our study was to compare primary tumor ablation rates, local tumor progression, safety, and long-term outcomes of radiofrequency ablation for single (less than 3.5 cm in diameter) or multiple HCC nodules (up to three nodules, each less than 3 cm) in both types of patients. METHODS: We treated 200 consecutive HCC patients recruited from a local sonographic screening program: 175 with cirrhosis and 25 with non-cirrhotic chronic liver disease. RESULTS: Complete ablation was achieved in 150 of the 175 patients (85.7%) (174 of the 206 nodules treated, 84.4%) in the cirrhotic group and in 24 of the 25 patients (96%) (27 of the 29 nodules treated; 93%) in the non-cirrhotic group. The two groups were not significantly different in terms of local tumor progression rates 1, 3, and 5 years after treatment (11%, 23%, and 24% among cirrhotics vs. 4%, 14%, and 14% among non-cirrhotic patients). Multifocal disease was more frequent among the cirrhotics. One-, three- and five-year survival rates were also similar in the cirrhotic (93%, 77%, and 61%) and non-cirrhotic groups (92%, 72%, and 64%). There were no treatment-related deaths. Severe complications occurred only in the cirrhotic group (2.2%). CONCLUSIONS: Radiofrequency ablation is safe and effective treatment for HCC in patients with or without cirrhosis. The latter group has a significantly lower rate of multifocal disease.

Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disorder characterized by rapidly progressive muscle weakness. The disease is caused by deletion, duplication or point mutation of the dystrophin gene, located on the X chromosome (Xp21). Deletion accounts for 60% of the mutations within the 79 exons of the dystrophin gene. Seven exons (43, 44, 45, 46, 49, 50, and 51) were found to be most commonly deleted among the Asian patients. To detect the frequency of deletion of these 7 exons in Malaysian DMD patients, we carried out a molecular genetic analysis in 20 Malaysian DMD patients. The mean age of initial presentation was 60 months (SD 32 months, range 5-120 months). Fourteen patients were found to have deletion of at least one of the seven exons. The remaining six patients did not show any deletion on the tested exons. Deletions of exons 49, 50 and 51 were the most frequent (71.43%) and appear to be the hot spots in our cohort of patients.

MxA protein assay for optimal monitoring of IFN-beta bioactivity in the treatment of MS patients.

OBJECTIVES: Myxovirus resistance protein A (MxA) can be used as a marker of the bioactivity of interferon-beta (IFN-beta) therapy. Two to forty per cent of IFN-beta-treated multiple sclerosis (MS) patients develop IFN-beta-neutralizing antibodies (NAb) with subsequent attenuation of MxA protein induction. The aim of this study was to set up a simple MxA enzyme immunoassay (EIA) for the measurement of MxA protein and to evaluate the EIA test by comparing the results with flow cytometric analysis and the measurement of NAb. METHODS: total of 51 IFN-beta-treated relapsing-remitting MS (RRMS) patients were tested for MxA protein expression by using both MxA EIA assay and flow cytometric analysis. Thirteen patients were confirmed to be NAb-positive. RESULTS: The correlation between EIA and flow cytometric analysis was significant with a wider range of measured levels in the EIA. Patients with NAb had low MxA levels, but in some patients, remaining MxA induction could be detected despite NAb. CONCLUSIONS: The MxA EIA assay seems to be a practical method for large-scale analysis of the bioactivity of IFN-beta treatment.

Anaplastic Large Cell Lymphoma Presenting as a Soft

Anaplastic large cell lymphoma (ALCL) is a rare tumour, accounting for approximately 3% of adult non-Hodgkin lymphomas.1 Primary systemic ALCL frequently involves both lymph nodes and extranodal sites. A 44-year-old woman presented with a firm, mobile mass in the left iliac fossa region. Ultrasound findings showed a well defined inhomogenous soft tissue mass, measuring 4x4x2.6cm in the deep subcutaneous region. Histopathological examination revealed that the mass was infiltrated by large lymphoid cells with marked nuclear atypia including kidney-shaped nuclei. These neoplastic cells expressed anaplastic lymphoma kinase (ALK) (both nuclear & cytoplasmic staining), CD30 and EMA but not for T-cell (CD45RO and CD3), and B-cell (CD20 & CD79α) markers. Fluorescence in situ hybridization (FISH) analysis showed a t(2;5)(p23;q35) chromosomal translocation. Subsequently the patient developed shortness of the breath and a thoracic computed tomography (CT) scan showed a mass encasing the right upper lobe bronchus. She also had bilateral axillary lymph nodes, measuring 1 cm in diameter (biopsy was not done). The mediastinum and endobronchial region did not show any abnormalities. She received 6 cycles of CHOP chemotherapy and remained disease free 2 years after diagnosis. ALCL, rarely present as a soft tissue tumour and this disease should be included as a differential diagnosis of any soft tissue mass.

Probing internal transport barriers with heat pulses in JET.

The first electron temperature modulation experiments in plasmas characterized by strong and long-lasting electron and ion internal transport barriers (ITB) have been performed in JET using ion cyclotron resonance heating in mode conversion scheme. The ITB is shown to be a well localized narrow layer with low heat diffusivity, characterized by subcritical transport and loss of stiffness. In addition, results from cold pulse propagation experiments suggest a second order transition process for ITB formation.

MxA protein induction in MS patients treated with intramuscular IFNbeta-1a.

MxA protein production in peripheral blood leukocytes is a valuable marker to evaluate biologic effects of interferon-beta (IFNbeta) therapy in multiple sclerosis (MS) patients. The three IFNbeta preparations available in the treatment of MS differ with respect to antigenicity and biologic activity. We studied prospectively the induction of MxA protein and the development of binding (BAb) and neutralising antibodies (NAb) in nine relapsing-remitting MS (RRMS) patients during one year of intramuscular IFNbeta -1a (Avonex) treatment. Another nine RRMS patient treated with Avonex for 1-3.5 years were also included. The results were compared with our earlier published data of subcutaneous IFNbeta-1a (Rebif). None of these 18 patients developed NAb but three of the long-term patients developed BAb. The baseline MxA protein levels rose but the induction was weaker compared to Rebif. The stimulation index (MxA after/before IFNbeta-1a injection) remained elevated. Weekly intramuscular dosing of IFNbeta-1a provides a sustained effect on lymphocytes but differences in leukocyte stimulation may underlie some of the differences between IFNbeta therapies.