Hintergrund: Die 5-Aminosalicylsäure (Mesalazin) gehört im Kindesalter zur Standardtherapie der Colitis ulcerosa. Bei insgesamt guter Verträglichkeit zählen zu den bekannten Nebenwirkungen vorwiegend gastrointestinale Symptome (Diarrhoe, Übelkeit, Abdominalschmerzen), Nierenfunktionsstörungen (interstitielle Nephritis, Niereninsuffizienz), Veränderungen der Leberfunktionsparameter und Veränderungen des Blutbildes. Kardiale Nebenwirkungen wie eine Perikarditis oder Myokarditis, im Rahmen einer Überempfindlichkeitsreaktion auf Mesalazin, werden extrem selten beobachtet. Typischerweise treten diese in den ersten Wochen nach Behandlungsbeginn auf.
With the emergence of edge-computing platforms, the applications of smart wearable devices are immense. This technology can be incorporated in consumer products such as smartwatches and activity trackers, for continuous health monitoring, as well as for medical applications such as myoelectric prosthetics, to interpret the electric activity in the residual limb and achieve fast and precise control. However, wearable technologies require a lightweight, energy-efficient, and low-latency processing system in order to extend the devices’ autonomy while maintaining a realistic user-feedback interaction. Neuromorphic processing, thanks to its event-based and asynchronous nature, presents ideal characteristics for compact brain-inspired low-power and ultra-fast computing systems that can enable a new generation of wearable devices. This article presents two spiking neural networks (SNNs) for event-based electromyography (EMG) gesture recognition and their evaluation on Intel’s research neuromorphic chip Loihi. Specifically, the evaluation is done on the Kapoho Bay platform which embeds the Loihi processor in a Universal Serial Bus (USB) form factor device allowing for closed-loop edge computation. With accurate experimental evaluation, this article demonstrates that the proposed method is able to discriminate 12 different hand gestures using an eight-channel EMG sensor and exceeds state-of-the-art results. We obtained an accuracy of 74% on the commonly used NinaPro DB5 dataset, a processing latency of 5.7 ms for 300-ms EMG samples while consuming only 41 mW.
Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded as a transient and benign neonatal syndrome without complications in adulthood. In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients were diagnosed with hypomagnesemia and renal Mg(2+) loss, and two patients developed diabetes with characteristics of maturity onset diabetes of the young (MODY), regardless of serum Mg(2+) levels. Our results suggest that these clinical findings are related to the function of PCBD1 as a dimerization cofactor for the transcription factor HNF1B. Mutations in the HNF1B gene have been shown to cause renal malformations, hypomagnesemia, and MODY. Gene expression studies combined with immunohistochemical analysis in the kidney showed that Pcbd1 is expressed in the distal convoluted tubule (DCT), where Pcbd1 transcript levels are upregulated by a low Mg(2+)-containing diet. Overexpression in a human kidney cell line showed that wild-type PCBD1 binds HNF1B to costimulate the FXYD2 promoter, the activity of which is instrumental in Mg(2+) reabsorption in the DCT. Of seven PCBD1 mutations previously reported in HPABH4D patients, five mutations caused proteolytic instability, leading to reduced FXYD2 promoter activity. Furthermore, cytosolic localization of PCBD1 increased when coexpressed with HNF1B mutants. Overall, our findings establish PCBD1 as a coactivator of the HNF1B-mediated transcription necessary for fine tuning FXYD2 transcription in the DCT and suggest that patients with HPABH4D should be monitored for previously unrecognized late complications, such as hypomagnesemia and MODY diabetes.
Celiac disease, one of the most common causes of intestinal malabsorption in childhood, is a mucosal reaction of the small intestine to gluten (1). The characteristic mucosal lesions, degeneration of epithelium and the cuticular layer, villous atrophy, and lymphoplasmocytic infiltration result in a diminished hydrolytic and resorbent function of the small intestine. Typical symptoms of general malabsorption are failure to thrive, large pungent stools, and a distended abdomen. The results of malnutrition are hypoproteinemia, iron deficiency, coagulopathy, and vitamin D deficiency. The symptoms differ in severity. Whereas constipation or intermittent ileus-like symptoms such as vomiting and stool retention with typical radiologic findings can occur in celiac disease, intussusception is rare (2,3). CASE REPORT A 3½-year-old girl with abdominal distension and diarrhea for 6 months had recurrent colicky abdominal pain for 2 weeks that always stopped spontaneously after several hours. On clinical examination during which the patient felt well, there was distended abdomen with increased intestinal peristalsis without other pathologic signs. Growth and weight were on the 10th percentile. Endomysium-immunoglobulin (Ig)A and IgG-antigliadin-antibodies were elevated (4-6). Other parameters were normal. During ultrasound performed while the patient was in abdominal pain, general thickening of the intestinal wall with high echogenicity (7) was seen as well as increased intestinal peristalsis and multiple presumably ileo-ileal intussusceptions (Figs. 1 and 2). These intussusceptions were seen for several days and reduced spontaneously. The mucosa of the small intestine showed villous atrophy and diminished disaccharidases and fructaldolases. Two weeks after being placed on a gliadin-free diet the girl was free of colicky complaints. Subsequently, on repeated ultrasound there was no sign of intussusception. DISCUSSION In childhood, intussusception usually occurs without obvious cause. Common triggers are: Meckel diverticulum, polyps, tumors, swelling of lymph nodes, cystic fibrosis, and Schoenlein-Henoch purpura. A correlation between intussusception and celiac disease is hardly mentioned in pediatric literature, whereas in adulthood, this combination is repeatedly described (3,8). Typical for intussusception of the small intestine seems to be a transient course with mild symptoms. One cause appears to be a disturbed peristalsis in the hypotonic intestinal loop (8). In this case, the correlation between celiac disease and repeated intussusception in different parts of the small intestine is obvious, especially because the recurrent intussusception stopped after starting the patient on a gliadin-free diet. Particularly in recurrent intussusception, celiac disease should be considered as a cause.FIG. 1.: Ultrasound showing thickening of the intestinal wall with high echogenicity and hyperperistalsis.FIG. 2.: Ultrasound showing three intussusceptions.
Hintergrund: Das antenatale Bartter-Syndrom, auch als hereditäre Salzverlusttubulopathie vom Furosemid-Typ bezeichnet, ist gekennzeichnet durch Hypokaliämie, Alkalose, Hyperreninismus, Hyperplasie des juxtaglomerulären Apparates und Hyperaldosteronismus bei normalem Blutdruck. Eine gesteigerte Kalziumausscheidung führt zur Nephrokalzinose. Ursache der Erkrankung ist eine defekte Chloridresorption in der Henleschen Schleife mit sekundär erhöhter Prostaglandin-E2-Synthese. Molekulargenetisch finden sich u.a. Mutationen im NKCC2-Gen (Na+K+2Cl- Cotransporter) (1). Das Auftreten von Polyhydramnion und Frühgeburtlichkeit ist typisch. Kasuistik: Wir berichten von einem 4-jährigen Jungen, bei dem während einer Routineuntersuchung eine medulläre Nephrokalzinose auffiel. Anamnestisch bedeutend sind ein Polyhydramnion und Frühgeburtlichkeit, sowie eine seit mehreren Monaten bestehende Polydipsie (ca. 3 Liter pro Tag) und Polyurie. Laborchemisch fielen eine Alkalose, eine Hyperkalziurie und erhöhte PGE2- und PGE-M-Ausscheidung im Urin auf. Im Exon 11 des SLC12A1-Gens (NKCC2) konnten zwei heterozygote Mutationen (A515S und A510D) nachgewiesen werden, die die Diagnose eines antenatalen Bartter-Syndroms Typ I bestätigten. Unter oraler Kaliumsubstitution und Therapie mit einem Cyclooxygenasehemmer sind ein ausgeglichener Elektrolyt- und Säure-Basen-Haushalt, eine Normokalziurie sowie ein Rückgang der täglichen Trinkmenge zu verzeichnen. Zusammenfassung: Die späte Diagnose legt den Verdacht auf eine milde Verlaufsform der vermutlich antenatal begonnenen Erkrankung nahe. Beide Eltern sind Träger einer genetischen Anlage zum Bartter-Syndrom. Bei der Mutation eines Elternteils (A515S) handelt es sich nach aktueller Datenbankrecherche um einen bisher nicht beschriebenen Gendefekt. Der Fall weist darauf hin, dass eine hereditäre Tubulopathie als seltene Ursache einer unklaren Nephrokalzinose auch bei älteren Kindern differentialdiagnostisch in Betracht zu ziehen ist.
This is a report of a fourteen year old Thai-girl who presented with acute hemiparesis because of intracranial haemorrhage six weeks after immigrating to Germany. Marked blood eosinophilia and raised IgE in serum in comparison with her origin led to the suspected diagnosis of parasitosis. Angiography showed mycotic aneurysm typical for cerebral gnathostomiasis one of the major causes of intracranial haemorrhage in children in Thailand. This diagnosis was confirmed by detecting specific antibodies against Gnathostoma spinigerum in serum and CSF by Western blot. Therapy was started with albendazole and dexamethasone and the girl made a complete recovery. In case of intracranial haemorrhage cerebral gnathostomiasis should be considered if the patient originates from an endemic area.
