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In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24 families, 4 IOPD and 21 LOPD with a resulting prevalence of 1:350,914. The most frequent clinical manifestation in LOPD was a lower limb-girdle phenotype combined with axial weakness. Three patients were clinically pauci- or asymptomatic and were diagnosed because of persistent hyperCKemia. Diagnostic delay in LOPD was 7.4 ± 9.7 years. The most common mutation was c.-32-13T > G. All IOPD and 17 symptomatic LOPD patients are receiving ERT. Standardized follow-up was only available in six LOPD patients for the 6-min walk test (6minWT) and in ten for the forced vital capacity (FVC). Mean FVC did not decline (before ERT; 63.6 ± 39.7%; last evaluation during ERT: 61.9 ± 26.9%; P = 0.5) while there was a trend to decline in the mean distance covered by the 6minWT (before ERT: 373.5 ± 117.9 m; last evaluation during ERT: 308.5 ± 120.8 m; P = 0.077). The study shows a lower prevalence of Pompe disease in Austria than in other European countries and corroborates a limb-girdle phenotype with axial weakness as the most common clinical presentation, although asymptomatic hyperCKemia may be the first indication of LOPD. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which discusses the role of cytidine deaminases and activation-induced deaminase (AID) for mutation in chronic lymphocytic leukemia.

Unlabelled: A 2.5-year-old boy presented with acute metabolic decompensation in whom 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase deficiency was diagnosed. Four days after metabolic decompensation, a stroke-like encephalopathy with tonic clonic convulsion of the left arm and leg and coma developed. Brain oedema and subsequent demarcation and atrophy were observed mainly within the supply areas of the right anterior and middle cerebral artery and to a lesser extent in various sites within the right hemisphere. Residual neurological deficits included spastic paresis of the left arm and leg. and left supranuclear facial palsy and aphasia, indicating bilateral diffuse brain affection.Conclusion: In the presented patient with HMG-CoA lyase deficiency, stroke-like encephalopathy occurred days after metabolic decompensation indicating ongoing (intracerebral) metabolic derangement. Monitoring of the intracerebral accumulation of toxic metabolites by magnetic resonance spectroscopy and of cerebral haemodynamics might be useful for a better understanding of the pathogenetic mechanisms of stroke-like encephalopathy and to identify patients at risk. [ABSTRACT FROM AUTHOR]

Unlabelled: We present a 3-year-old patient with stenotic kinking of the left internal carotid artery (ICA) who developed an ischaemic infarction of the left brain hemisphere followed by severe neurological sequelae after a prolonged generalized seizure. At time of the seizure the boy was in biological remission of a nephrotic syndrome and received prednisolone and cyclosporin A (CsA) treatment. The haemodynamic consequences of inborn kinking of the ICA is discussed controversely in the literature. The presented case shows that stenotic kinking of the ICA may significantly impair the blood flow towards the homolateral hemisphere and therefore may result in an ischaemic infarction. The influence of CsA on seizure activity is discussed.Conclusion: This case provides clinical and radiological evidence supporting an association between stenotic kinking of the carotid artery and homolateral hemispheric brain infarction. [ABSTRACT FROM AUTHOR]

Deep unfolding is a very promising concept that allows to combine the advantages of traditional estimation techniques, such as adaptive filters, and machine learning approaches, like artificial neural networks. Focusing on a challenging self‐interference problem occurring in frequency‐division duplex radio frequency transceivers, namely modulated spurs, it is shown that deep unfolding enables remarkable performance gains. Based on the hyper‐parameter optimisation of several least‐mean squares (LMS) variants and the recursive‐least squares algorithm, the importance of a well‐chosen loss function are highlighted. Especially the variable step‐size LMS and the transform‐domain LMS vastly benefit without increased runtime complexity. [ABSTRACT FROM AUTHOR]

The stochastic gradient descent (SGD) method is one of the most prominent first‐order iterative optimisation algorithms, enabling linear adaptive filters as well as general nonlinear learning schemes. It is applicable to a wide range of objective functions, while featuring low computational costs for online operation. However, without a suitable step‐size normalisation, the convergence and tracking behaviour of the stochastic gradient descent method might be degraded in practical applications. In this letter, a novel general normalisation approach is provided for the learning of (non‐)holomorphic models with multiple independent parameter sets. The advantages of the proposed method are demonstrated by means of a specific widely‐linear estimation example. [ABSTRACT FROM AUTHOR]

An abstract of the study "Increased Success Rates of Cardioversion of Atrial Fibrillation in Patients With Ischemic Cardiomyopathy Compared With Non-Ischemic Cardiomyopathy," by L.-H. Boldt and colleagues is presented.

Describes the edge position modulation with run-length-limited coding for high-speed wireless infrared communications. Increase in bandwidth efficiency; Power efficiency; Maintenance of low bit-error rates; Optimization of the characteristics of the wireless infrared channel.

Background: The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life. Some countries have newborn screening programs for the homocystinurias but these do not detect all patients.Results: HCU Network Australia is one of the very few support groups for patients with homocystinurias. Here we report the results of its survey of 143 patients and caregivers from 22 countries, evaluating current diagnostic pathways and management for the homocystinurias. Most (110) of the responses related to patients with CBS deficiency. The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. The delay was attributed mainly to ignorance of the disease. Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. Even when the diagnosis is made, the way it is communicated is sometimes poor. Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. More than a third of the participants reported problems with the availability or cost of treatment. Only half of the patients always took their amino acid mixture. In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.Conclusions: There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. [ABSTRACT FROM AUTHOR]

For decoding of LDPC codes two types of algorithms are frequently discussed in the literature. One type is based on belief propagation (BP) the other is based on linear programming (LP). Especially for short LDPC codes it has been observed that BP decoding often performs better at low SNR ranges, whereas LP decoding performs better at high SNR levels. A combined linear programming and belief propagation decoder is presented, which significantly outperforms both a pure LP and a pure BP decoder throughout the whole SNR range. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor related to nutritional infantile vitamin B12 deficiency.

In recent years, much effort has been spent to extend the runtime of battery-powered electronic applications. In order to improve the utilization of the available cell capacity, high precision estimation approaches for battery-specific parameters are needed. In this work, an approximate least squares estimation scheme is proposed for the estimation of the battery state-of-charge (SoC). The SoC is determined based on the prediction of the battery's electromotive force. The proposed approach allows for an improved re-initialization of the Coulomb counting (CC) based SoC estimation method. Experimental results for an implementation of the estimation scheme on a fuel gauge system on chip are illustrated. Implementation details and design guidelines are presented. The performance of the presented concept is evaluated for realistic operating conditions (temperature effects, aging, standby current, etc.). For the considered test case of a GSM/UMTS load current pattern of a mobile phone, the proposed method is able to re-initialize the CC-method with a high accuracy, while state-of-the-art methods fail to perform a re-initialization. [ABSTRACT FROM AUTHOR]

Background: Natalizumab is the first monoclonal antibody therapy approved for multiple sclerosis (MS). Its therapeutic mechanism is the blockade of the α4-integrin subunit of the adhesion molecule (AM) very late activation antigen-4 (VLA-4), which leads to an inhibition of immune cell extravasation into the central nervous system (CNS).Methods: We investigated changes in the expression levels of unblocked α4-integrin and further AM (intercellular adhesion molecule-1, -2, -3 (cICAM-1, -2, -3), leukocyte function associated antigen-1 (LFA-1)) on peripheral blood mononuclear cells (PBMC) determined by flow cytometry from 25 patients with MS before the first natalizumab infusion and before the fourth infusion. In 15 MS patients AM expression was evaluated every 3 months over 1 year.Results: We found a significant decrease (p < 0.0001) of unblocked α4-integrin cell surface expression on all investigated PBMC subsets (T cells —61.7%, B cells —69.1%, monocytes/macrophages —46.4%) in the blood of MS patients after 3 months of natalizumab treatment. Moreover, a continuous decrease (p < 0.05) of unblocked α4-integrin expression levels was seen after 3, 6, 9, and 12 months. As a secondary effect, expression levels of the other investigated AM were differentially affected.Conclusions: Results show a sustained decrease of unblocked α4-integrin expression not only in all patients but also in all investigated PBMC subsets. This probably results in a continuously decreasing transmigration of PBMC into the CNS and may explain the improved clinical efficacy in the second treatment year and also the increasing risk of progressive multifocal leukoencephalopathy during long-term natalizumab therapy. We conclude that AM expression profiles are promising candidates for the development of a biomarker system to determine both natalizumab treatment response and patients at risk for opportunistic CNS infections. [ABSTRACT FROM AUTHOR]

Signals transmitted over a multi-path propagation channel exhibit Inter-Path Interference (IPI) and fading. The receiver has to employ measures to mitigate these effects or it will incur severe performance degradation. A classic approach in Code Division Multiple Access (CDMA) communications is the Rake receiver. Alternatively, a Linear Minimum Mean Square Error (LMMSE) equalizer can further improve performance. This paper compares performance and computational complexity of these two algorithms. A hybrid solution will be introduced in order to decrease computational complexity while retaining most of the interference suppression capabilities of the LMMSE equalizer. [ABSTRACT FROM AUTHOR]

A novel polynomial-enhanced open-circuit voltage extrapolation method is presented. It is used to identify a battery's state-of-charge based on the estimation of the corresponding relaxation voltage. The proposed method represents the relaxation process via a polynomial enhanced voltage model, calculated by least squares estimation. Compared to state-of-the-art models, the proposed approach reduces the period of time needed until the state-of-charge can be accurately determined. For the particular cell under test, an open-circuit voltage accuracy of ±1 can be reached within the first 11 minutes of the relaxation process. In addition, the reduced estimation time also leads to a lower power consumption of an integrated circuit-based battery identification solution. [ABSTRACT FROM AUTHOR]

Unlabelled: A 6-year-old female patient presented with a rapidly progressive scleroderma-like syndrome involving almost the entire integument. Initially clinical patterns and histopathological data of both eosinophilic fasciitis and scleredema adultorum were present. The course of the disease remained unusual for both conditions but finally argued in favour of the diagnosis of eosinophilic fasciitis.Conclusion: Eosinophilic fasciitis and scleredema adultorum might be subtypes of one disease entity. [ABSTRACT FROM AUTHOR]

Presented is a digital controller to regulate a point-of-load Buck converter. The regulator varies both the duty cycle, as well as the switching frequency, by controlling not only the on-time, but also the off-time of the switching period. The multi-loop digital controller, which achieves a tight voltage regulation and an excellent dynamic performance, is presented and its effectiveness is proven by means of experimental results. The controller architecture, together with an analogue-to-digital converter, has been integrated in a 0.13 µm CMOS technology. [ABSTRACT FROM AUTHOR]

Researchers from the University of Klagenfurt in Austria tell us why it is becoming crucial to be able to accurately monitor a battery's state-of-charge, and how their latest work can help. [ABSTRACT FROM AUTHOR]