Isolated Cranial Nerve-III Palsy Secondary to Perimesencephalic Subarachnoid Hemorrhage

We describe isolated cranial nerve-III palsy as a rare clinical finding in a patient with perimesencephalic subarachnoid hemorrhage. In this unusual case, the patient presented with complete cranial nerve-III palsy including ptosis and pupillary involvement. Initial studies revealed subarachnoid hemorrhage in the perimesencephalic, prepontine, and interpeduncular cisterns. Angiographic studies were negative for an intracranial aneurysm. The patient’s neurological deficits improved with no residual deficits on follow-up several months after initial presentation. Our case report supports the notion that patients with perimesencephalic subarachnoid hemorrhage have an excellent prognosis. Our report further adds a case of isolated cranial nerve-III palsy as a rare initial presentation of this type of bleeding, adding to the limited body of the literature

Pattern and degree of left ventricular remodeling following a tailored surgical approach for hypertrophic obstructive cardiomyopathy.

Background The role of a tailored surgical approach for hypertrophic cardiomyopathy (HCM) on regional ventricular remodelling remains unknown. The aims of this study were to evaluate the pattern, extent and functional impact of regional ventricular remodelling after a tailored surgical approach. Methods From 2005 to 2008, 44 patients with obstructive HCM underwent tailored surgical intervention. Of those, 14 were ineligible for cardiac magnetic resonance (CMR) studies. From the remainder, 14 unselected patients (42±12 years) underwent pre- and post-operative CMR studies at a median 12 months post-operatively (range 4-37 months). Regional changes in left ventricular (LV) thickness as well as global LV function following surgery were assessed using CMR Tools (London, UK). Results Pre-operative mean echocardiographic septal thickness was 21±4 mm and mean LV outflow gradient was 69±32 mmHg. Following surgery, there was a significant degree of regional regression of LV thickness in all segments of the LV, ranging from 16% in the antero-lateral midventricular segment to 41% in the anterior basal segment. Wall thickening was significantly increased in basal segments but showed no significant change in the midventricular or apical segments. Globally, mean indexed LV mass decreased significantly after surgery (120±29g/m2 versus 154±36g/m2; p<0.001). There was a trend for increased indexed LV end-diastolic volume (70±13 mL versus 65±11 mL; p=0.16) with a normalization of LV ejection fraction (68±7% versus 75±9%; p<0.01). Conclusion Following a tailored surgical relief of outflow obstruction for HCM, there is a marked regional reverse LV remodelling. These changes could have a significant impact on overall ventricular dynamics and function

Cortical depth dependent functional responses in humans at 7T: improved specificity with 3D GRASE

Ultra high fields (7T and above) allow functional imaging with high contrast-to-noise ratios and improved spatial resolution. This, along with improved hardware and imaging techniques, allow investigating columnar and laminar functional responses. Using gradient-echo (GE) (T2* weighted) based sequences, layer specific responses have been recorded from human (and animal) primary visual areas. However, their increased sensitivity to large surface veins potentially clouds detecting and interpreting layer specific responses. Conversely, spin-echo (SE) (T2 weighted) sequences are less sensitive to large veins and have been used to map cortical columns in humans. T2 weighted 3D GRASE with inner volume selection provides high isotropic resolution over extended volumes, overcoming some of the many technical limitations of conventional 2D SE-EPI, whereby making layer specific investigations feasible. Further, the demonstration of columnar level specificity with 3D GRASE, despite contributions from both stimulated echoes and conventional T2 contrast, has made it an attractive alternative over 2D SE-EPI. Here, we assess the spatial specificity of cortical depth dependent 3D GRASE functional responses in human V1 and hMT by comparing it to GE responses. In doing so we demonstrate that 3D GRASE is less sensitive to contributions from large veins in superficial layers, while showing increased specificity (functional tuning) throughout the cortex compared to GE

Higher Order Statistics in a mmWave Propagation Environment

(c) 2019 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other users, including reprinting/ republishing this material for advertising or promotional purposes, creating new collective works for resale or redistribution to servers or lists, or reuse of any copyrighted components of this work in other works.[EN] A thorough measurement campaign in an indoor environment at the millimeter-wave band is carried out with an aim at characterizing the short-term fading channel in terms of its higher-order statistics. The measurements are conducted in a variety of scenarios, with frequencies ranging from 55 to 65 GHz, in line-of-sight and non-line-of-sight conditions, and combinations of horizontal and vertical polarizations at both the transmitter and the receiver. A number of fading models are tested, namely Rayleigh, Rice, Nakagami-m, alpha-mu, kappa-mu, eta-mu, and alpha-eta-kappa-mu. The main second-order statistics under analysis are the level crossing rate (LCR) and average fade duration (AFD) both given per distance unit. From the experimental data, the parameters of these statistics are estimated, and the corresponding curves of the theoretical models are compared with the empirical ones and the best model is selected. Additionally, the study of the very general distribution, namely alpha-eta-kappa-mu, is advanced, in which new expressions for time-/distance-domain LCR and Al-ll are derived using an envelope-based approach. Such an approach leads to integral-form formulations with much less computational complexity and computes rapidly compared with the already existing ones presented elsewhere, also given in the integral form. Furthermore, a series of expansion expression for the alpha-eta-kappa-mu time-/distance-domain LCR is then derived that improves even further the computational time.This work was supported in part by the Conselho Nacional de Desenvolvimento Cientico e Tecnologico (CNPq) under Grant 304248/2014-2 and Grant 308365/2017-8, in part by the Rede Nacional de Ensino e Pesquisa (RNP), with resources from Ministerio da Ciencia, Tecnologia, Inovacoes e Comunicacoes (MCTIC), through the Radiocommunication Reference Center [Centro de Referencia em Radiocomunicacoes (CRR)] Project of the National Institute of Telecommunications [Instituto Nacional de Telecomunicacoes (INATEL)], Brazil, under Grant 01250.075413/2018-04, and in part by the Ministerio de Economia, Industria y Competitividad of the Spanish Government through the Agencia Estatal de Investigacion (AEI) and the Fondo Europeo de Desarrollo Regional (FEDER) under Project TEC2017-86779-C2-2-R.Dos Anjos, AA.; Rufino-Marins, TR.; Nogueira Da Silva, CR.; Rodrigo Peñarrocha, VM.; Rubio Arjona, L.; Reig, J.; Amaral De Souza, RA.... (2019). Higher Order Statistics in a mmWave Propagation Environment. IEEE Access. 7:103876-103892. https://doi.org/10.1109/ACCESS.2019.2930931S103876103892

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy

AIMS: Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity of genetic variants contributing to disease. Accurate interpretation of these variants constitutes a major challenge for diagnosis and implementing precision medicine, especially in understudied populations. The aim is to define the genetic architecture of HCM in North African cohorts with high consanguinity using ancestry-matched cases and controls. METHODS AND RESULTS: Prospective Egyptian patients (n = 514) and controls (n = 400) underwent clinical phenotyping and genetic testing. Rare variants in 13 validated HCM genes were classified according to standard clinical guidelines and compared with a prospective HCM cohort of majority European ancestry (n = 684). A higher prevalence of homozygous variants was observed in Egyptian patients (4.1% vs. 0.1%, P = 2 × 10-7), with variants in the minor HCM genes MYL2, MYL3, and CSRP3 more likely to present in homozygosity than the major genes, suggesting these variants are less penetrant in heterozygosity. Biallelic variants in the recessive HCM gene TRIM63 were detected in 2.1% of patients (five-fold greater than European patients), highlighting the importance of recessive inheritance in consanguineous populations. Finally, rare variants in Egyptian HCM patients were less likely to be classified as (likely) pathogenic compared with Europeans (40.8% vs. 61.6%, P = 1.6 × 10-5) due to the underrepresentation of Middle Eastern populations in current reference resources. This proportion increased to 53.3% after incorporating methods that leverage new ancestry-matched controls presented here. CONCLUSION: Studying consanguineous populations reveals novel insights with relevance to genetic testing and our understanding of the genetic architecture of HCM

Tumeurs primitives de l’orbite traitement chirurgical

Les tumeurs primitives de l’orbite sont des affections rares, leurs  manifestation cliniques sont tardives et variées pouvant êtres trompeuses. L’imagerie TDM et surtout IRM est capitale pour le diagnostic et la prise en charge. Le traitement est souvent chirurgical, le choix de la technique dépend de la taille et la topographie tumorale. Nous rapportons 13 cas de tumeurs orbitaires colligés entre 2004 et 2010. L’âge moyen de nos patients est de 36 ans, l’exophtalmie a été le maitre symptôme. Tous nos patients ont été opérés. Après étude histologique de la pièce d’exérèse opératoire il s’agissait de: 5 hémangiomes caverneux, 4 tumeurs mixtes, 2 neurinomes, 1 kyste hydatique et 1 angiome. Un seul cas de récidive tumorale a été noté.Mots clés : tumeur de l’orbite, hémangiome caverneux, shwannome, chirurgie

Fast spin echo sequences for BOLD functional MRI

At higher field strengths, spin echo (SE) functional MRI (fMRI) is an attractive alternative to gradient echo (GE) as the increased weighting towards the microvasculature results in intrinsically better localization of the BOLD signal. Images are free of signal voids but the commonly used echo planar imaging (EPI) sampling scheme causes geometric distortions, and T2* effects often contribute considerably to the signal changes measured upon brain activation. Multiply refocused SE sequences such as fast spin echo (FSE) are essentially artifact free but their application to fast fMRI is usually hindered due to high energy deposition, and long sampling times. In the work presented here, a combination of parallel imaging and partial Fourier acquisition is used to shorten FSE acquisition times to near those of conventional SE-EPI, permitting sampling of eight slices (matrix 64  ×  64) per second. Signal acquisition is preceded by a preparation experiment that aims at increasing the relative contribution of extravascular dynamic averaging to the BOLD signal. Comparisons are made with conventional SE-EPI using a visual stimulation paradigm. While the observed signal changes are approximately 30% lower, most likely due to the absence of T2* contamination, activation size and t-scores are comparable for both methods, suggesting that HASTE fMRI is a viable alternative, particularly if distortion free images are required. Our data also indicate that the BOLD post-stimulus undershoot is most probably attributable to persistent elevated oxygen metabolism rather than to delayed vascular compliance

Global burden of human brucellosis : a systematic review of disease frequency

BACKGROUND: This report presents a systematic review of scientific literature published between 1990-2010 relating to the frequency of human brucellosis, commissioned by WHO. The objectives were to identify high quality disease incidence data to complement existing knowledge of the global disease burden and, ultimately, to contribute towards the calculation of a Disability-Adjusted Life Years (DALY) estimate for brucellosis.METHODS/PRINCIPAL FINDINGS: Thirty three databases were searched, identifying 2,385 articles relating to human brucellosis. Based on strict screening criteria, 60 studies were selected for quality assessment, of which only 29 were of sufficient quality for data analysis. Data were only available from 15 countries in the regions of Northern Africa and Middle East, Western Europe, Central and South America, Sub-Saharan Africa, and Central Asia. Half of the studies presented incidence data, six of which were longitudinal prospective studies, and half presented seroprevalence data which were converted to incidence rates. Brucellosis incidence varied widely between, and within, countries. Although study biases cannot be ruled out, demographic, occupational, and socioeconomic factors likely play a role. Aggregated data at national or regional levels do not capture these complexities of disease dynamics and, consequently, at-risk populations or areas may be overlooked. In many brucellosis-endemic countries, health systems are weak and passively-acquired official data underestimate the true disease burden.CONCLUSIONS: High quality research is essential for an accurate assessment of disease burden, particularly in Eastern Europe, the Asia-Pacific, Central and South America and Africa where data are lacking. Providing formal epidemiological and statistical training to researchers is essential for improving study quality. An integrated approach to disease surveillance involving both human health and veterinary services would allow a better understand of disease dynamics at the animal-human interface, as well as a more cost-effective utilisation of resources

Patient perspectives of managing fatigue in ankylosing spondylitis, and views on potential interventions: a qualitative study

&lt;p&gt;Background: Fatigue is a major component of living with ankylosing spondylitis (AS), though it has been largely over-looked, and currently there are no specific agreed management strategies.&lt;/p&gt; &lt;p&gt;Methods: This qualitative exploratory study involved participants who are members of an existing population-based ankylosing spondylitis (PAS) cohort. Participants residing in South West Wales were invited to participate in a focus group to discuss; (1) effects of fatigue, (2) self-management strategies and (3) potential future interventions. The focus groups were audio-recorded and the transcripts were analysed using thematic analysis.&lt;/p&gt; &lt;p&gt;Results: Participants consisted of 3 males/4 females (group 1) and 4 males/3 females (group 2), aged between 35 and 73 years (mean age 53 years). Three main themes were identified: (1) The effects of fatigue were multi-dimensional with participants expressing feelings of being ‘drained’ (physical), ‘upset’ (emotional) and experiencing ‘low-mood’ (psychological); (2) The most commonly reported self-management strategy for fatigue was a balanced combination of activity (exercise) and rest. Medication was reluctantly taken due to side-effects and worries over dependency; (3) Participants expressed a preference for psychological therapies rather than pharmacological for managing fatigue. Information on Mindfulness-Based Stress Reduction (MBSR) was received with interest, with recommendations for delivery in a group format with the option of distance-based delivery for people who were not able to attend a group course.&lt;/p&gt; &lt;p&gt;Conclusions: Patients frequently try and manage their fatigue without any formal guidance or support. Our research indicates there is a need for future research to focus on psychological interventions to address the multi-faceted aspects of fatigue in AS.&lt;/p&gt