A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient

OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion. We discuss mechanisms of paradominant inheritance and haploinsufficiency to describe phenotype expression of familial cavernous malformations. CASE DESCRIPTION The patient presented with unremitting headaches, who had a known history of a solitary cerebral cavernous malformation (CCM) for which she underwent resection several months prior with no evidence of any other CCM lesions seen on post-operative MRI. She has no history of whole brain radiation, family history of cavernous malformations, or prior head trauma. During this hospital visit, she was found to have develop two new lesions in the left fronto-parietal lobe and cerebellum. She was treated with surgical resection of the left frontoparietal lesion, and recovered fully. It is of interest that a patient approaching her fourth decade of life would start to develop formation of multiple de novo cavernous malformations, especially with an absent family history. Paradominant Inheritance and haploinsufficiency are two proposed models of inheritance that can be related to this patient’s disease progression. CONCLUSION The case illustrates an atypical clinical course of a patient with familia

Assessment and monitoring of the human dimensions within the Reef 2050 Integrated Monitoring and Reporting Program: final report of the Human Dimensions Expert Group

[Extract] The National Environmental Science Programme (NESP) Project 3.2.2 and funds provided through the Reef 2050 Integrated Monitoring and Reporting Program (RIMReP) have provided a methodology for assessing and monitoring the Great Barrier Reef (Reef)’s human dimensions as a key mechanism to support governance and management of the World Heritage Area. The work has used a conceptual framework to identify appropriate sets of indicators for characterising the desired state of the Reef’s human dimensions at the whole-of-Reef and regional scales. Using this framework, 25 indicator attributes that describe people’s relationship with the Reef were grouped into five key attribute clusters which align with the Reef 2050 Long-Term Sustainability Plan (Reef 2050 Plan) Outcomes. These are: (i) human aspirations, capacities and stewardship associated with the Reef; (ii) community vitality related to Great Barrier Reef outcomes; (iii) economic values related to Great Barrier Reef outcomes; (iv) culture and heritage related to the Reef; and (v) the health of governance systems affecting Reef outcomes. This work was undertaken with collaboration and input from the Reef-wide (RIMReP) Human Dimensions Expert Group and six Regional Discussion Panels in the Reef catchment. Populating this framework to determine the state of the human dimensions associated with the Reef requires a rich evidence base. As a result of this work, alignment of the human dimensions framework with Reef 2050 Plan targets, objectives and outcomes has revealed several significant gaps for monitoring implementation of the Reef 2050 Plan.An accessible copy of this report is not yet available from this repository, please contact [email protected] for more information

Mean value coordinates–based caricature and expression synthesis

We present a novel method for caricature synthesis based on mean value coordinates (MVC). Our method can be applied to any single frontal face image to learn a specified caricature face pair for frontal and 3D caricature synthesis. This technique only requires one or a small number of exemplar pairs and a natural frontal face image training set, while the system can transfer the style of the exemplar pair across individuals. Further exaggeration can be fulfilled in a controllable way. Our method is further applied to facial expression transfer, interpolation, and exaggeration, which are applications of expression editing. Additionally, we have extended our approach to 3D caricature synthesis based on the 3D version of MVC. With experiments we demonstrate that the transferred expressions are credible and the resulting caricatures can be characterized and recognized

Prefrontal and auditory input to intercalated neurons of the Amygdala

The basolateral amygdala (BLA) and prefrontal cortex (PFC) are partners in fear learning and extinction. Intercalated (ITC) cells are inhibitory neurons that surround the BLA. Lateral ITC (IITC) neurons provide feed-forward inhibition to BLA principal neurons, whereas medial ITC (mITC) neurons form an inhibitory interface between the BLA and central amygdala (CeA). Notably, infralimbic prefrontal (IL) input to mITC neurons is thought to play a key role in fear extinction. Here, using targeted optogenetic stimulation, we show that IITC neurons receive auditory input from cortical and thalamic regions. IL inputs innervate principal neurons in the BLA but not mITC neurons. These results suggest that (1) these neurons may play a more central role in fear learning as both IITCs and mITCs receive auditory input and that (2) mITC neurons cannot be driven directly by the IL, and their role in fear extinction is likely mediated via the BLA

The Unusual Superconducting State at 49 K in Electron-Doped CaFe2As2 at Ambient

We report the detection of unusual superconductivity up to 49 K in single crystalline CaFe2As2 via electron-doping by partial replacement of Ca by rare-earth. The superconducting transition observed suggests the possible existence of two phases: one starting at ~ 49 K, which has a low critical field ~ 4 Oe, and the other at ~ 21 K, with a much higher critical field > 5 T. Our observations are in strong contrast to previous reports of doping or pressurizing layered compounds AeFe2As2 (or Ae122), where Ae = Ca, Sr or Ba. In Ae122, hole-doping has been previously observed to generate superconductivity with a transition temperature (Tc) only up to 38 K and pressurization has been reported to produce superconductivity with a Tc up to 30 K. The unusual 49 K phase detected will be discussed.Comment: 11 pages, 8 figure

Contrasting Pressure Effects in Sr2VFeAsO3 and Sr2ScFePO3

We report the resistivity measurements under pressure of two Fe-based superconductors with a thick perovskite oxide layer, Sr2VFeAsO3 and Sr2ScFePO3. The superconducting transition temperature Tc of Sr2VFeAsO3 markedly increases with increasing pressure. Its onset value, which was Tc{onset}=36.4 K at ambient pressure, increases to Tc{onset}=46.0 K at ~4 GPa, ensuring the potential of the "21113" system as a high-Tc material. However, the superconductivity of Sr2ScFePO3 is strongly suppressed under pressure. The Tc{onset} of ~16 K decreases to ~5 K at ~4 GPa, and the zero-resistance state is almost lost. We discuss the factor that induces this contrasting pressure effect.Comment: 5 pages, 4 figures, to be published in J. Phys. Soc. Jpn. No.12 (2009

What Happens in the Beginning, Matters in the End: Achieving Best Evidence with Child Suspects in the Police Station

During the last 30 years, the way in which children give evidence in the criminal justice system in England and Wales has been radically transformed. These reforms have, however, neglected child suspects in the police station. Recent piecemeal reforms to the statutory regime for children in police detention have overlooked a critical stage of the criminal justice process: the police interview. This article critically analyses the policy, practice and law surrounding police questioning of child suspects. It demonstrates that the absence of child-specific guidance when interviewing child suspects is not only out of step with wider reforms, but carries real risks regarding the effective communication and participation of child suspects

Nutritional Intervention Restores Muscle but Not Kidney Phenotypes in Adult Calcineurin Aα Null Mice

Mice lacking the α isoform of the catalytic subunit of calcineurin (CnAα) were first reported in 1996 and have been an important model to understand the role of calcineurin in the brain, immune system, bones, muscle, and kidney. Research using the mice has been limited, however, by failure to thrive and early lethality of most null pups. Work in our laboratory led to the rescue of CnAα-/- mice by supplemental feeding to compensate for a defect in salivary enzyme secretion. The data revealed that, without intervention, knockout mice suffer from severe caloric restriction. Since nutritional deprivation is known to significantly alter development, it is imperative that previous conclusions based on CnAα-/- mice are revisited to determine which aspects of the phenotype were attributable to caloric restriction versus a direct role for CnAα. In this study, we find that defects in renal development and function persist in adult CnAα-/- mice including a significant decrease in glomerular filtration rate and an increase in blood urea nitrogen levels. These data indicate that impaired renal development we previously reported was not due to caloric restriction but rather a specific role for CnAα in renal development and function. In contrast, we find that rather than being hypoglycemic, rescued mice are mildly hyperglycemic and insulin resistant. Examination of muscle fiber types shows that previously reported reductions in type I muscle fibers are no longer evident in rescued null mice. Rather, loss of CnAα likely alters insulin response due to a reduction in insulin receptor substrate-2 (IRS2) expression and signaling in muscle. This study illustrates the importance of re-examining the phenotypes of CnAα-/- mice and the advances that are now possible with the use of adult, rescued knockout animals