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Copyright of Herzschrittmachertherapie und Elektrophysiologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Herz is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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.

Copyright of e & i Elektrotechnik und Informationstechnik is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of e & i Elektrotechnik und Informationstechnik is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of e & i Elektrotechnik und Informationstechnik is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]

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]