Barriers and facilitators for cascade testing in genetic conditions: a systematic review

Cascade testing is the process of offering genetic counseling and testing to at-risk relatives of an individual who has been diagnosed with a genetic condition. It is critical for increasing the identification rates of individuals with these conditions and the uptake of appropriate preventive health services. The process of cascade testing is highly varied in clinical practice, and a comprehensive understanding of factors that hinder or enhance its implementation is necessary to improve this process. We conducted a systematic review to identify barriers and facilitators for cascade testing and searched PubMed, CINAHL via EBSCO, Web of Science, EMBASE, and the Cochrane Library for articles published from the databases’ inception to November 2018. Thirty articles met inclusion criteria. Barriers and facilitators identified from these studies at the individual-level were organized into the following categories: (1) demographics, (2) knowledge, (3) attitudes, beliefs, and emotional responses of the individual, and (4) perceptions of relatives, relatives’ responses, and attitudes toward relatives. At the interpersonal-level, barriers and facilitators were categorized as (1) family communication-, support- and dynamics-, and (2) provider-factors. Finally, barriers at the environmental-level relating to accessibility of genetic services were also identified. Our findings suggest that several individual, interpersonal and environmental factors may play a role in cascade testing. Future studies to further investigate these barriers and facilitators are needed to inform future interventions for improving the implementation of cascade testing for genetic conditions in clinical practice.Subject terms: Preventive medicine, Genetic services     

Multimodal Imaging Assisting the Early Diagnosis of Cat-Scratch Neuroretinitis

To describe how a multifocal fundus imaging system assisted the early diagnosis of cat scratch neuroretinitis in a case of a 27-year-old male with unilateral visual loss, neuroretinitis, and a peripapillary angiomatous lesion. Multimodal fundus imaging analysis was an essential contributor to the clinical diagnosis of cat scratch neuroretinitis during the early stage of the disease.     

The transverse and oblique sinuses of the pericardium: Anatomic and echocardiographic insights

A number of masses and pseudomasses may be encountered during the echocardiographic examination of the transverse and oblique sinuses with significant clinical implications. This review discusses the clinically relevant anatomy of the pericardial sinuses emphasizing diagnostic pitfalls that may be encountered during their echocardiographic examination.     

Spectrum of ocular firework injuries in children: A 5-year retrospective study during a festive season in Southern India

Purpose:

Ocular trauma is a major cause of acquired monocular blindness in children. Firework injuries account for 20% of ocular trauma. The purpose of our study was to document the profile of ocular firework injuries in children during the festive season of Diwali and to determine the prevalence of unilateral blindness in them.

Materials and Methods:

A retrospective chart analysis of ocular firework injury in children during the festival of Diwali from 2009 to 2013, conducted in a tertiary care eye center in Tamil Nadu, Southern India. Children below 18 years of age with ocular firework injuries who presented to the emergency department for 3 consecutive days - the day of Diwali, 1 day before, and 1 day after Diwali - were included in this study.

Results:

Eighty-four children presented with firework-related ocular injuries during the study period. Male to female ratio was 4:1 with mean age 9.48 ± 4 years. Forty-four percentage required hospitalization. The prevalence of unilateral blindness in children due to fireworks was found to be 8% (95% confidence interval - 2–13%).

Conclusion:

Vision 2020 gives high priority to avoidable blindness, especially in children. In our study, for every 12 children who presented with firecracker injury, one resulted in unilateral blindness. This is an avoidable cause of blindness. Awareness needs to be created, and changes in policy regarding sales and handling of firecrackers including mandatory use of protective eyewear should be considered.     

Sensory‐motor network topology in multiple sclerosis: Structural connectivity analysis accounting for intrinsic density discrepancy

Graph theory and network modelling have been previously applied to characterize motor network structural topology in multiple sclerosis (MS). However, between‐group differences disclosed by graph analysis might be primarily driven by discrepancy in density, which is likely to be reduced in pathologic conditions as a consequence of macroscopic damage and fibre loss that may result in less streamlines properly traced. In this work, we employed the convex optimization modelling for microstructure informed tractography (COMMIT) framework, which, given a tractogram, estimates the actual contribution (or weight) of each streamline in order to optimally explain the diffusion magnetic resonance imaging signal, filtering out those that are implausible or not necessary. Then, we analysed the topology of this ‘COMMIT‐weighted sensory‐motor network’ in MS accounting for network density. By comparing with standard connectivity analysis, we also tested if abnormalities in network topology are still identifiable when focusing on more ‘quantitative’ network properties. We found that topology differences identified with standard tractography in MS seem to be mainly driven by density, which, in turn, is strongly influenced by the presence of lesions. We were able to identify a significant difference in density but also in network global and local properties when accounting for density discrepancy. Therefore, we believe that COMMIT may help characterize the structural organization in pathological conditions, allowing a fair comparison of connectomes which considers discrepancies in network density. Moreover, discrepancy‐corrected network properties are clinically meaningful and may help guide prognosis assessment and treatment choice.     

Human Diphyllobothrium nihonkaiense Infection in Washington State

A patient in Washington State harbored a fish tapeworm most likely acquired from eating raw salmon. Diphyllobothrium nihonkaiense was identified by cox1 sequence analysis. Although this is the first documented human D. nihonkaiense infection in the United States, the parasite may have been present earlier but misidentified as Diphyllobothrium latum.     

Echo Decorrelation Imaging of Rabbit Liver and VX2 Tumor during In Vivo Ultrasound Ablation

In open surgical procedures, image-ablate ultrasound arrays performed thermal ablation and imaging on rabbit liver lobes with implanted VX2 tumor. Treatments included unfocused (bulk ultrasound ablation, N = 10) and focused (high-intensity focused ultrasound ablation, N = 13) exposure conditions. Echo decorrelation and integrated backscatter images were formed from pulse-echo data recorded during rest periods after each therapy pulse. Echo decorrelation images were corrected for artifacts using decorrelation measured prior to ablation. Ablation prediction performance was assessed using receiver operating characteristic curves. Results revealed significantly increased echo decorrelation and integrated backscatter in both ablated liver and ablated tumor relative to unablated tissue, with larger differences observed in liver than in tumor. For receiver operating characteristic curves computed from all ablation exposures, both echo decorrelation and integrated backscatter predicted liver and tumor ablation with statistically significant success, and echo decorrelation was significantly better as a predictor of liver ablation. These results indicate echo decorrelation imaging is a successful predictor of local thermal ablation in both normal liver and tumor tissue, with potential for real-time therapy monitoring.     

Incremental benefit of three‐dimensional transthoracic echocardiography in the assessment of left atrial appendage aneurysm leading to severe extrinsic compression of a coronary artery

Left atrial appendage aneurysm (LAA AN) is a rare disease entity, which can be congenital or acquired in nature. We report an adult patient with LAA AN presenting with anginal chest pain in whom live/real time three‐dimensional transthoracic echocardiography (3DTTE) provided incremental value over the two‐dimensional (2D) technique in providing a more comprehensive assessment of the lesion. A literature review of the salient features of LAA AN is also provided in a tabular form.