Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome

A five-year-old girl was referred to our department for evaluation of a pigmented birthmark on her right cheek, present unchanged since birth. There was no other past medical history of note and no family history of relevant problems. Cutaneous examination revealed a pigmented keratinocytic epidermal naevus following fine Blaschko's lines on the right cheek and neck (Figure 1), and a solitary café-au-lait macule of 1cm on the lower leg

Bone Health Improvement Protocol

Introduction. Metabolic bone disease is a malady that causessignificant morbidity and mortality to a patient who has sustaineda fragility fracture. There is currently no protocol toprevent secondary fragility fracture at our institution. The objectiveof this study was to create an appropriate protocol forimplementing clinical pathways for physicians to diagnose andtreat osteoporosis and fragility fractures by educating patients. Methods. A multidisciplinary team created an appropriateprotocol that could be implemented in an inpatient setting.A thorough literature review was conducted to evaluatepotential barriers and efficacious methods of protocol design. Results. A bone health improvement protocol was developed.Any patient over the age of 50 who sustains a fracture from lowenergy trauma, such as a fall from standing or less, should beconsidered to place into this protocol. These patients receivededucation on metabolic bone disease, a prescription for highdose vitamin D therapy, and laboratory testing to determinethe etiology of their metabolic bone disease. Continuity of careof these patients with their primary care provider was providedfor further management of their metabolic bone disease andevaluation of their disease after discharged from the hospital. Conclusion. Comprehensive secondary prevention should consistof osteoporosis assessment and treatment together with afall risk assessment. With this protocol, secondary fragility fracturespotentially could be prevented. KS J Med 2017;10(3):62-66

Boom and bust of keystone structure on coral reefs

Repeated bouts of coral bleaching threaten the long-term persistence of coral reefs and associated communities. Here, we document the short- and long-term impacts of heatwave events on coral and fish assemblages, based on regular surveys of 18 reefs of the granitic islands of Seychelles over 23 yr. Extreme heat events in 1998 and 2016 led to bleaching-associated declines in coral cover, whilst between these years there was an interim period of coral recovery on some reefs. Coral decline and recovery were primarily due to changes in the cover of branching coral, particularly those from the families Acroporidae and Pocilloporidae. Surveys during the 2016 bleaching found that 95% of the 468 Acropora and Pocillopora colonies observed were either bleached or recently dead. The extent of bleaching and subsequent mortality were best explained by a priori assessments of community susceptibility to heat stress. One year later (2017), coral cover had fallen by 70% and average coverage across the 18 reefs was at 6%, similar to levels recorded in 2005, 7 yr after the 1998 bleaching. Decline in coral following the 2016 bleaching coincided with reduced abundance of fish < 11 cm TL, particularly corallivores, invertivores and mixed diet feeders. These changes are likely to foreshadow more widespread loss once the habitat structure erodes. Accordingly, 7 yr after the 1998 bleaching, when coral skeletons and reef structure had collapsed on some reefs, abundance of both large- and small-bodied fish had declined. We show that fluctuation in the cover of branching coral is positively associated with changes in the abundance of small-bodied fish which contribute to ecological processes and high diversity, suggesting branching corals are a keystone structure. Increased frequency of bleaching threatens the capacity of branching corals to fully recover after disturbances, reducing the amplitude of boom bust cycles of these corals and the keystone habitat structure they provide reef fish

Toward multi-focal spot remote focusing two-photon microscopy for high speed imaging

This is the final version of the article. Available from SPIE via the DOI in this record.Optical sectioning techniques using two-photon excitation of fluorescent indicators are central to diverse imaging applications. The limitations of the technique are low speed and undesirable specimen agitation. In our design, highspeed axial scanning is carried out by moving a reference objective to axially displace the focal spot without introducing significant spherical aberration and any agitation of the specimen. Further, the system is configured to allow switching between single spot and multiple focal spot remote ...The project is funded by the Medical Research Council through project “MICA: High speed, high resolution imaging of excitable cell networks” (MR/K015877/1)

A Review of the Enviro-Net Project

Ecosystems monitoring is essential to properly understand their development and the effects of events, both climatological and anthropological in nature. The amount of data used in these assessments is increasing at very high rates. This is due to increasing availability of sensing systems and the development of new techniques to analyze sensor data. The Enviro-Net Project encompasses several of such sensor system deployments across five countries in the Americas. These deployments use a few different ground-based sensor systems, installed at different heights monitoring the conditions in tropical dry forests over long periods of time. This paper presents our experience in deploying and maintaining these systems, retrieving and pre-processing the data, and describes the Web portal developed to help with data management, visualization and analysis.Comment: v2: 29 pages, 5 figures, reflects changes addressing reviewers' comments v1: 38 pages, 8 figure

Ac/Ds transposition for CRISPR/dCas9-SID4x epigenome modulation in zebrafish

Due to its genetic amenability coupled with advances in genome editing, zebrafish is an excellent model to examine the function of (epi)genomic elements. Here, we repurposed the Ac/Ds maize transposition system to efficiently characterise zebrafish cis-regulated elements, also known as enhancers, in F0-microinjected embryos. We further used the system to stably express guide RNAs enabling CRISPR/dCas9-interference (CRISPRi) perturbation of enhancers without disrupting the underlying genetic sequence. In addition, we probed the phenomenon of antisense transcription at two neural crest gene loci. Our study highlights the utility of Ac/Ds transposition as a new tool for transient epigenome modulation in zebrafish

Fast Multiplane Functional Imaging Combining Acousto-optic Switching and Remote Focusing

Networks of neurons are inherently three-dimensional in nature, whereas conventional imaging methods, such as laser scanning two-photon microscopy, usually provide only fast two-dimensional imaging. Rapid volumetric imaging would however be preferable for imaging neurons. To get a more complete picture of the dynamics of the neuron-to-neuron interactions, we have developed a pseudo-parallelised multi-plane two-photon excitation imaging system through the incorporation of an acousto-optic switching and a remote focusing technique into a resonant scanning microscope. This permits the recording of millisecond scale fluorescence transients of calcium indicators from large populations of neurons upon neural firing events at multiple chosen axial planes in very short time frame. While the remote focusing system offers aberration-free axial scanning over a few hundreds of micrometres of depth, the acousto-optic deflector provides high speed optical switching between different laser beam paths in sub-microsecond timescale which in turn, controls the axial focal plane to be targeted. Here, we report on the development of the high temporal resolution multi-plane targeted microscope and its potential application

Glycemic Control Promotes Pancreatic Beta-Cell Regeneration in Streptozotocin-Induced Diabetic Mice

BACKGROUND: Pancreatic beta-cells proliferate following administration of the beta-cell toxin streptozotocin. Defining the conditions that promote beta-cell proliferation could benefit patients with diabetes. We have investigated the effect of insulin treatment on pancreatic beta-cell regeneration in streptozotocin-induced diabetic mice, and, in addition, report on a new approach to quantify beta-cell regeneration in vivo. METHODOLOGY/PRINCIPAL FINDINGS: Streptozotocin-induced diabetic were treated with either syngeneic islets transplanted under the kidney capsule or subcutaneous insulin implants. After either 60 or 120 days of insulin treatment, the islet transplant or insulin implant were removed and blood glucose levels monitored for 30 days. The results showed that both islet transplants and insulin implants restored normoglycemia in the 60 and 120 day treated animals. However, only the 120-day islet and insulin implant groups maintained euglycemia (<200 mg/dl) following discontinuation of insulin treatment. The beta-cell was significantly increased in all the 120 day insulin-treated groups (insulin implant, 0.69+/-0.23 mg; and islet transplant, 0.91+/-0.23 mg) compared non-diabetic control mice (1.54+/-0.25 mg). We also show that we can use bioluminescent imaging to monitor beta-cell regeneration in living MIP-luc transgenic mice. CONCLUSIONS/SIGNIFICANCE: The results show that insulin treatment can promote beta-cell regeneration. Moreover, the extent of restoration of beta-cell function and mass depend on the length of treatment period and overall level of glycemic control with better control being associated with improved recovery. Finally, real-time bioluminescent imaging can be used to monitor beta-cell recovery in living MIP-luc transgenic mice