Acute transverse myelitis in Lyme neuroborreliosis

Introduction: Acute transverse myelitis (ATM) is a rare disorder (1-8 new cases per million of population per year), with 20% of all cases occurring in patients younger than 18years of age. Diagnosis requires clinical symptoms and evidence of inflammation within the spinal cord (cerebrospinal fluid and/or magnetic resonance imaging). ATM due to neuroborreliosis typically presents with impressive clinical manifestations. Case presentation: Here we present a case of Lyme neuroborreliosis-associated ATM with severe MRI and CSF findings, but surprisingly few clinical manifestations and late conversion of the immunoglobulin G CSF/blood index of Borrelia burgdorferi sensu lato. Conclusion: Clinical symptoms and signs of neuroborrelial ATM may be minimal, even in cases with severe involvement of the spine, as shown by imaging studies. The CSF/blood index can be negative in the early stages and does not exclude Lyme neuroborreliosis; if there is strong clinical suspicion of Lyme neuroborreliosis, appropriate treatment should be started and the CSF/blood index repeated to confirm the diagnosi

Acute transverse myelitis in Lyme neuroborreliosis

Introduction: Acute transverse myelitis (ATM) is a rare disorder (1-8 new cases per million of population per year), with 20% of all cases occurring in patients younger than 18years of age. Diagnosis requires clinical symptoms and evidence of inflammation within the spinal cord (cerebrospinal fluid and/or magnetic resonance imaging). ATM due to neuroborreliosis typically presents with impressive clinical manifestations. Case presentation: Here we present a case of Lyme neuroborreliosis-associated ATM with severe MRI and CSF findings, but surprisingly few clinical manifestations and late conversion of the immunoglobulin G CSF/blood index of Borrelia burgdorferi sensu lato. Conclusion: Clinical symptoms and signs of neuroborrelial ATM may be minimal, even in cases with severe involvement of the spine, as shown by imaging studies. The CSF/blood index can be negative in the early stages and does not exclude Lyme neuroborreliosis; if there is strong clinical suspicion of Lyme neuroborreliosis, appropriate treatment should be started and the CSF/blood index repeated to confirm the diagnosi

The neuronal correlates of mirror illusion in children with spastic hemiparesis: a study with functional magnetic resonance imaging.

To investigate the neuronal activation pattern underlying the effects of mirror illusion in children/adolescents with normal motor development and in children/adolescents with hemiparesis and preserved contralateral corticospinal organisation. The type of cortical reorganisation was classified according to results of transcranial magnetic stimulation. Only subjects with congenital lesions and physiological contralateral cortical reorganisation were included. Functional magnetic resonance imaging was performed to investigate neuronal activation patterns with and without a mirror box. Each test consisted of a unimanual and a bimanual motor task. Seven children/adolescents with congenital hemiparesis (10-20 years old, three boys and four girls) and seven healthy subjects (8-17 years old, four boys and three girls) participated in this study. In the bimanual experiment, children with hemiparesis showed a significant effect of the mirror illusion (p<0.001 at voxel level, family-wise error corrected at cluster level) in the dorsolateral prefrontal cortex and anterior cingulate cortex of the affected and unaffected hemispheres, respectively. No significant effects of the mirror illusion were observed in unimanual experiments and in healthy participants. Mirror illusion in children/adolescents with hemiparesis leads to activation of brain areas involved in visual conflict detection and cognitive control to resolve this conflict. This effect is observed only in bimanual training. We consider that for mirror therapy in children and adolescents with hemiparesis a bimanual approach is more suitable than a unimanual approach

CCD BV and 2MASS photometric study of the open cluster NGC 1513

We present CCD BV and JHK$_{s}$ 2MASS photometric data for the open cluster NGC 1513. We observed 609 stars in the direction of the cluster up to a limiting magnitude of $V\sim19$ mag. The star count method shows that the centre of the cluster lies at $\alpha_{2000}=04^{h}09^{m}36^{s}$, $\delta_{2000}=49^{\circ}28^{'}43^{''}$ and its angular size is $r=10$ arcmin. The optical and near-infrared two-colour diagrams reveal the colour excesses in the direction of the cluster as $E(B-V)=0.68\pm0.06$, $E(J-H)=0.21\pm0.02$ and $E(J-K_{s})=0.33\pm0.04$ mag. These results are consistent with normal interstellar extinction values. Optical and near-infrared Zero Age Main-Sequences (ZAMS) provided an average distance modulus of $(m-M)_{0}=10.80\pm0.13$ mag, which can be translated into a distance of $1440\pm80$ pc. Finally, using Padova isochrones we determined the metallicity and age of the cluster as $Z=0.015\pm 0.004$ ($[M/H]=-0.10 \pm 0.10$ dex) and $\log (t/yr) = 8.40\pm0.04$, respectively.Comment: 15 pages, 12 figures and 4 tables, accepted for publication in Astrophysics & Space Scienc

Genome Sequences of Rare Human Enterovirus Genotypes Recovered from Clinical Respiratory Samples in Bern, Switzerland.

We report on genomic sequences of human enteroviruses (EVs) that were identified in respiratory samples in Bern, Switzerland, in 2018 and 2019. Besides providing sequences for coxsackievirus A2, echovirus 11, and echovirus 30, we determined the sequences of rare EV-D68 and EV-C105 genotypes circulating in Switzerland

Impact of non‐CNS childhood cancer on resting‐state connectivity and its association with cognition

Introduction Non‐central nervous system cancer in childhood (non‐CNS CC) and its treatments pose a major threat to brain development, with implications for functional networks. Structural and functional alterations might underlie the cognitive late‐effects identified in survivors of non‐CNS CC. The present study evaluated resting‐state functional networks and their associations with cognition in a mixed sample of non‐CNS CC survivors (i.e., leukemia, lymphoma, and other non‐CNS solid tumors). Methods Forty‐three patients (off‐therapy for at least 1 year and aged 7–16 years) were compared with 43 healthy controls matched for age and sex. High‐resolution T1‐weighted structural magnetic resonance and resting‐state functional magnetic resonance imaging were acquired. Executive functions, attention, processing speed, and memory were assessed outside the scanner. Results Cognitive performance was within the normal range for both groups; however, patients after CNS‐directed therapy showed lower executive functions than controls. Seed‐based connectivity analyses revealed that patients exhibited stronger functional connectivity between fronto‐ and temporo‐parietal pathways and weaker connectivity between parietal‐cerebellar and temporal‐occipital pathways in the right hemisphere than controls. Functional hyperconnectivity was related to weaker memory performance in the patients' group. Conclusion These data suggest that even in the absence of brain tumors, non‐CNS CC and its treatment can lead to persistent cerebral alterations in resting‐state network connectivity

Patients' knowledge and perception on optic neuritis management before and after an information session

<p>Abstract</p> <p>Background</p> <p>Patients' understanding of their condition affect the choice of treatment. The aim of this study is to evaluate patients' understanding and treatment preferences before and after an information session on the treatment of acute optic neuritis.</p> <p>Methods</p> <p>Participants were asked to complete a questionnaire consisting of 14 questions before and after an information session presented by a neuro-ophthalmologist. The information session highlighted the treatment options and the treatment effects based on the Optic Neuritis Treatment Trial in plain patient language. The information session stressed the finding that high dose intravenous steroid therapy accelerated visual recovery but does not change final vision and that treatment with oral prednisone alone resulted in a higher incidence of recurrent optic neuritis.</p> <p>Results</p> <p>Before the information session, 23 (85%) participants knew that there was treatment available for ON and this increased to 27 (100%) after the information session. There were no significantly change in patients knowledge of symptoms of ON and purpose of treatment before and after the information session. Before the information session, 4 (14%) respondents reported they would like to be treated by oral steroid alone in the event of an optic neuritis and 5 (19%) did not respond. After the education session, only 1 patient (4%) indicated they would undergo treatment with oral steroid alone but 25 (92%) indicated they would undergo treatment with intravenous steroid treatment, alone or in combination with oral treatment. Results indicated that there were significant differences in the numbers of participants selecting that they would undergo treatment with a steroid injection (n = 22, p = 0.016).</p> <p>Conclusions</p> <p>In this study, patients have shown good understanding of the symptoms and signs of optic neuritis. The finding that significant increases in the likelihood of patients engaging in best practice can be achieved with an information session is very important. This suggests that patient knowledge of available treatments and outcomes can play an important role in implementing and adopting guideline recommendations.</p

Behaviour sequelae following acute Kawasaki disease.

BACKGROUND: Kawasaki disease is a systemic vasculitis and may affect cerebral function acutely. The aim of the present study was to measure a number of behaviour and social parameters within a cohort of Kawasaki disease patients. METHODS: Parents of children with past diagnosis of Kawasaki disease were recruited to complete several behaviour screening questionnaires. Sixty five sets of questionnaires relating to the patient cohort received were eligible for inclusion. Two control groups were used, a hospital (HC) control and a sibling control (SC) group. RESULTS: 40% of the Kawasaki disease group showed elevated internalising scores in the clinical or borderline-clinical range. This compared with 18% of hospital controls and 13% of sibling controls. Additionally, the Kawasaki disease (KD) group were shown to be experiencing greater overall total difficulties when compared with the controls (KD 13.7, HC 8.6, SC 8.9). The KD group attained higher behavioural scores within the internalising sub-categories of somatic problems (KD 61, HC 57, SC 54) and withdrawn traits (KD 56, HC 53, SC 51). The KD group were also shown to be suffering more thought problems (KD 57, HC 53, SC 50) compared with the controls. Further difficulties relating to conduct (KD 3.3, HC 1.4) and social interactions (KD 6.7, HC 8.3) are also highlighted for the KD group compared with hospital controls. Positron emission tomograms were performed on nine patients to investigate severe behavioural problems. Three showed minor changes, possibly a resolving cerebral vasculopathy. CONCLUSION: Kawasaki disease can be associated with significant behavioural sequelae. This is an important consideration in the long-term follow up and referral to a clinical psychologist may be necessary in selected patients

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome wide siRNA screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies