Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History

PURPOSE: To determine the genetic background of sector retinitis pigmentosa (RP), natural history, in order to better inform patient counselling. DESIGN: Retrospective case series. METHODS: Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), and optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing was performed in patients with sector RP from a single tertiary referral center. MAIN OUTCOME: Measures: Reporting demographic data, signs and symptoms, visual acuity, molecular genetics, ERG, FAF and OCT findings. RESULTS: Twenty-six molecularly confirmed patients from 23 different families were identified, harboring likely disease-causing variants in nine genes. The mode of inheritance was autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5 and 39.0 years respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1 and RHO-associated sector RP. CONCLUSIONS: The genotypic spectrum of the disease is broader than previously reported. The provided longitudinal data will help to provide more accurate patient prognosis and counselling, as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments

Adaptation of a Mice Doppler Echocardiography Platform to Measure Cardiac Flow Velocities for Embryonic Chicken and Adult Zebrafish.

Ultrasonography is the most widely used imaging technique in cardiovascular medicine. In this technique, a piezoelectric crystal produces, sends, and receives high frequency ultrasound waves to the body to create an image of internal organs. It enables practical real time visualization in a non-invasive manner, making the modality especially useful to image dynamic cardiac structures. In the last few decades, echocardiography has been applied to cardiac disease models, mainly to rodents. While clinical echocardiography platforms can be used for relatively large animals such as pigs and rats, specialized systems are needed for smaller species. Theoretically, as the size of the imaged sample decreases, the frequency of the ultrasound transducer needed to image the sample increases. There are multiple modes of echocardiography imaging. In Doppler mode, erythrocytes blood flow velocities are measured from the frequency shift of the sent ultrasound waves compared to received echoes. Recorded data are then used to calculate cardiac function parameters such as cardiac output, as well as the hemodynamic shear stress levels in the heart and blood vessels. The multi-mode (i.e., b-mode, m-mode, Pulsed Doppler, Tissue Doppler, etc.) small animal ultrasound systems in the market can be used for most cardiac disease models including mice, embryonic chick and zebrafish. These systems are also associated with significant costs. Alternatively, there are more economical single-mode echocardiography platforms. However, these are originally built for mice studies and they need to be tested and evaluated for smaller experimental models. We recently adapted a mice Doppler echocardiography system to measure cardiac flow velocities for adult zebrafish and embryonic chicken. We successfully assessed cardiac function and hemodynamic shear stress for normal as well as for diseased embryonic chicken and zebrafish. In this paper, we will present our detailed protocols for Doppler flow measurements and further cardiac function analysis on these models using the setup. The protocols will involve detailed steps for animal stabilization, probe orientation for specific measurements, data acquisition, and data analysis. We believe this information will help cardiac researchers to establish similar echocardiography platforms in their labs in a practical and economical manner.Qatar National Research Fund (QNRF), National Priority Research Program NPRP 10-0123-170222. The publication of this article was funded by the Qatar National Library

Can you really anonymize the donors of genomic data in today’s digital world?

The rapid progress in genome sequencing technologies leads to availability of high amounts of genomic data. Accelerating the pace of biomedical breakthroughs and discoveries necessitates not only collecting millions of genetic samples but also granting open access to genetic databases. However, one growing concern is the ability to protect the privacy of sensitive information and its owner. In this work, we survey a wide spectrum of cross-layer privacy breaching strategies to human genomic data (using both public genomic databases and other public non-genomic data). We outline the principles and outcomes of each technique, and assess its technological complexity and maturation. We then review potential privacy-preserving countermeasure mechanisms for each threat. © Springer International Publishing Switzerland 2016

The Effect of Chronic Endurance Exercise on Serum Levels of MOTS-c and Humanin in Professional Athletes

Background: Humanin and the mitochondrial open reading frame of the 12S rRNA-c (MOTS-c) are mitochondrial encoded peptides involved in energy metabolism, cytoprotection, longevity, insulin sensitivity and their expression decrease with age. Levels of these molecules have been shown to respond to acute exercise, however little is known about their modulation under different chronic exercise conditions. In this study, we aim to compare levels of Humanin and MOTS-c in non-athletes vs professional (moderate and high endurance) athletes. Methods: Serum samples were collected from 30 non-athlete controls and 75 professional athletes (47 low/moderate endurance and 28 high endurance athletes). Levels of Humanin and MOTS-c were measured by the enzyme linked immunosorbent aaasy (ELISA) and linear models were generated to compare the effect of different levels of endurance exercise on these factors in different age groups. Spearman correlation was used to assess the correlation between these factors in athletes and non-athletes. Results: We showed that professional athletes had lower levels of MOTS-c and higher levels of Humanin than sedentary controls. Within the athletic groups, high endurance athletes had lower levels of Humanin than low/moderate endurance athletes of the same gender/age groups, whereas MOTS-c levels did not change between the subgroups. Humanin and MOTS-c levels were highly correlated in athletes, but not in sedentary controls. Conclusions: This pilot data suggests that serum levels of the mitochondrial proteins MOTS-c and Humanin change in response to chronic exercise with implications on energy metabolism and performance.This research was funded by the Qatar National Research Fund (QNRF), grant number NPRP13S-1230-190008, and Qatar University, grant number QUCG-BRC-21/22-1 (MAE).Scopu

Knowledge, Attitude and Training Physiotherapist Palliative Care - Gaza Strip

Background: Palliative care encompasses holistic management of patients and families facing life-threatening and life-limiting conditions. There is currently little known about Gaza strip physiotherapists’ palliative care knowledge, attitudes, beliefs, experience and training needs. Objectives: Palliative care rehabilitation has been positively associated with a high and prolonged level of independent function, which also reduces the burden on care providers(1,2). This study aimed to investigate the existing knowledge, attitudes, beliefs, training and experience of palliative care by physiotherapists working in Gaza strip. Methodology: A quantitative cross-sectional descriptive study using a face to face questionnaire included sociodemographic data, physiotherapist’s knowledge, attitude experience and training (modified PTiPC-KABE Scale)(3), the study includes eight major hospitals in the Gaza-Strip. The sample size was 120 participants, 110 were included. SPSS (version 22 for Windows) for descriptive statistics, Chi-Square, Student's t and compare mean -tests were used for the statistical analysis. Results: The total number of respondents was 110(93.3%); male 45%,and females 55%.Years of experience Palliative care intends to hasten death was significant in (p = 0.017), Palliative care does not enhance quality of life (p = 0.117), I feel a sense of personal failure when a patient dies(p=0.035), Palliative care considers dying as a complicated process (p =0.026), Caring for dying patients is traumatic for me(p = 0.004), The provision of palliative care requires emotional detachment(p = 0.009), The physical environment of my workplace is ideal for providing palliative care and rehabilitation(p = 0.026), I am often exposed to death in my workplace(p = 0.034), Conclusions: Many of Gaza's physiotherapists perform in palliative care despite inadequate training and limited knowledge in this area. Further learning and training opportunities for graduates and postgraduate students are required for physiotherapists in palliative care

Multifunctional Oil Absorption with Macroporous Polystyrene Fibers Incorporating Silver-Doped ZnO

Hydrophobic microporous polystyrene (PS) fibers are fabricated by a solvent-induced phase-separation-assisted electrospinning method. Zinc oxide (ZnO) and silver-doped zinc oxide (Ag-ZnO) nanomaterials with variable morphologies are added to the PS fibers, to investigate the influence of multifunctional nanofiller addition on the porosity and consequent oil-adsorbing properties for different oil types. The doping of silver as well as the uniformity in particle distribution are confirmed by scanning electron microscopy and the energy-dispersive spectral analyses. The porosity of the fibers and their crystallinity effect depend on the hydrophobicity and surface properties of these microporous nanofilled fibers. Ag-ZnO, specifically in 2 wt %, enhanced the pore size and distribution in PS porous fibers, thereby enhancing the oil-adsorbing property and its hydrophobicity. In-depth analysis of the oil adsorption mechanism is done for the fibers, both qualitatively and quantitatively, to demonstrate its correlation with the structural integrity of the fibers. The PS/2Ag-ZnO composite also exhibits the highest antibacterial performance against Staphylococcus aureus, a general indication of antibiological fouling properties of these oil-separating films. The antifouling/antibacterial activity of the nanoparticles and high oil sorption capacity of the highly porous PS composites show great potential for use in water-treatment-related applications.This publication was made possible by NPRP grant 10-0127-170269 from the Qatar National Research Fund (a member of Qatar Foundation). The statements made herein are solely the responsibility of the authors. The SEM, TEM, and EDS analyses were accomplished in the Central Laboratories Unit, Qatar University. A.A.E. acknowledges Qatar University for the support granted through Graduate Research Assistantship Program (GRA).Scopu

Global overview of the management of acute cholecystitis during the COVID-19 pandemic (CHOLECOVID study)

There was no funding support for this study. Disclosure. The authors declare no conflict of interest.Peer reviewedPublisher PD

Antimicrobial resistance among migrants in Europe: a systematic review and meta-analysis

BACKGROUND: Rates of antimicrobial resistance (AMR) are rising globally and there is concern that increased migration is contributing to the burden of antibiotic resistance in Europe. However, the effect of migration on the burden of AMR in Europe has not yet been comprehensively examined. Therefore, we did a systematic review and meta-analysis to identify and synthesise data for AMR carriage or infection in migrants to Europe to examine differences in patterns of AMR across migrant groups and in different settings. METHODS: For this systematic review and meta-analysis, we searched MEDLINE, Embase, PubMed, and Scopus with no language restrictions from Jan 1, 2000, to Jan 18, 2017, for primary data from observational studies reporting antibacterial resistance in common bacterial pathogens among migrants to 21 European Union-15 and European Economic Area countries. To be eligible for inclusion, studies had to report data on carriage or infection with laboratory-confirmed antibiotic-resistant organisms in migrant populations. We extracted data from eligible studies and assessed quality using piloted, standardised forms. We did not examine drug resistance in tuberculosis and excluded articles solely reporting on this parameter. We also excluded articles in which migrant status was determined by ethnicity, country of birth of participants' parents, or was not defined, and articles in which data were not disaggregated by migrant status. Outcomes were carriage of or infection with antibiotic-resistant organisms. We used random-effects models to calculate the pooled prevalence of each outcome. The study protocol is registered with PROSPERO, number CRD42016043681. FINDINGS: We identified 2274 articles, of which 23 observational studies reporting on antibiotic resistance in 2319 migrants were included. The pooled prevalence of any AMR carriage or AMR infection in migrants was 25·4% (95% CI 19·1-31·8; I2 =98%), including meticillin-resistant Staphylococcus aureus (7·8%, 4·8-10·7; I2 =92%) and antibiotic-resistant Gram-negative bacteria (27·2%, 17·6-36·8; I2 =94%). The pooled prevalence of any AMR carriage or infection was higher in refugees and asylum seekers (33·0%, 18·3-47·6; I2 =98%) than in other migrant groups (6·6%, 1·8-11·3; I2 =92%). The pooled prevalence of antibiotic-resistant organisms was slightly higher in high-migrant community settings (33·1%, 11·1-55·1; I2 =96%) than in migrants in hospitals (24·3%, 16·1-32·6; I2 =98%). We did not find evidence of high rates of transmission of AMR from migrant to host populations. INTERPRETATION: Migrants are exposed to conditions favouring the emergence of drug resistance during transit and in host countries in Europe. Increased antibiotic resistance among refugees and asylum seekers and in high-migrant community settings (such as refugee camps and detention facilities) highlights the need for improved living conditions, access to health care, and initiatives to facilitate detection of and appropriate high-quality treatment for antibiotic-resistant infections during transit and in host countries. Protocols for the prevention and control of infection and for antibiotic surveillance need to be integrated in all aspects of health care, which should be accessible for all migrant groups, and should target determinants of AMR before, during, and after migration. FUNDING: UK National Institute for Health Research Imperial Biomedical Research Centre, Imperial College Healthcare Charity, the Wellcome Trust, and UK National Institute for Health Research Health Protection Research Unit in Healthcare-associated Infections and Antimictobial Resistance at Imperial College London