Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.

Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic testing for these disorders among patients with FMD has not been determined. A total of 216 consecutive patients with FMD were identified.

Acute-onset opioid-induced hyperalgesia in a child with juvenile idiopathic arthritis.

We describe a child with polyarticular juvenile idiopathic arthritis (JIA) presenting with severe diffuse pain refractory to nonsteroidal anti-inflammatory agents and high-dose opioids. Her JIA involved her knees and ankles and was mildly active on etanercept and nonsteroidal anti-inflammatory agents. At presentation, she complained of hip pain progressing to severe diffuse pain and allodynia involving her extremities.

Epidemiological characteristics of HIV-infected women with and without a history of criminal justice involvement in South Carolina.

The circumstances that lead to incarceration may potentiate the HIV/AIDS epidemic and this has become an emerging public health concern. In the United States and in most jurisdictions, HIV prevalence in the correctional setting is higher among female inmates than male inmates. This dichotomy is not fully understood and few studies have focused on women in the South.

Genetic counselors: your partners in clinical practice.

As our understanding of the human genome has grown, so too has the need for health care providers who can help patients and families understand the implications of these new discoveries for their health care. Increasingly, genetic counselors are working in partnership with physicians to provide a continuum of care from risk assessment to diagnosis. In this article, we explain the process of genetic counseling and its value for patients who have a personal or family history of a hereditary condition.

Prioritizing environmental risk of prescription pharmaceuticals.

Low levels of pharmaceutical compounds have been detected in aquatic environments worldwide, but their human and ecological health risks associated with low dose environmental exposure is largely unknown due to the large number of these compounds and a lack of information. Therefore prioritization and ranking methods are needed for screening target compounds for research and risk assessment. Previous efforts to rank pharmaceutical compounds have often focused on occurrence data and have paid less attention to removal mechanisms such as human metabolism.

Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

Mutations in the smooth muscle-specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. A unique R179H mutation in ACTA2 has been reported to result in widespread smooth muscle dysfunction affecting vascular and extravascular smooth muscles. We report a 7-year-old girl with an ACTA2 R179H mutation manifesting with neonatal seizures due to multifocal infarcts, asymmetric motor deficits, global developmental delay, spasticity, congenital bilateral mydriasis, and a large patent ductus arteriosus.

Connectivity changes underlying spectral EEG changes during propofol-induced loss of consciousness.

The mechanisms underlying anesthesia-induced loss of consciousness remain a matter of debate. Recent electrophysiological reports suggest that while initial propofol infusion provokes an increase in fast rhythms (from beta to gamma range), slow activity (from delta to alpha range) rises selectively during loss of consciousness. Dynamic causal modeling was used to investigate the neural mechanisms mediating these changes in spectral power in humans.

Correlates and predictors of disability in vulnerable US Hispanics with rheumatoid arthritis.

Objective: US Hispanics with rheumatoid arthritis experience worse functional outcomes compared to whites. The determinants of disability, however, are not well established in large Hispanic cohorts. In the present report, we identified factors associated with disability in a cross-sectional design, and evaluated their individual contributions to disability over time.

Murray Valley encephalitis: a review of clinical features, diagnosis and treatment.

Murray Valley encephalitis virus (MVEV) is a mosquito-borne virus that is found across Australia, Papua New Guinea and Irian Jaya. MVEV is endemic to northern Australia and causes occasional outbreaks across south-eastern Australia. 2011 saw a dramatic increase in MVEV activity in endemic regions and the re-emergence of MVEV in south-eastern Australia.

Psychiatry in the Deep South: a pilot study of integrated training for psychiatry residents and seminary students.

Objective: The authors describe an interdisciplinary training experience developed for psychiatry residents and seminary students that assessed each group's beliefs and attitudes toward the other's profession. The training was designed to enhance awareness, positive attitudes, and interaction between the disciplines.

Methods: From 2005 to 2008, PGY-2 general-psychiatry residents and PGY-5 child-psychiatry residents (N=30) participated alongside psychology interns (N=13) and seminary students (N=41).

Serum carnitine levels and levocarnitine supplementation in institutionalized Huntington's disease patients.

Along with antioxidant properties, carnitine is an important regulator of lipid metabolism in humans. While beneficial effects of carnitine have been demonstrated in animal models of Huntington's disease (HD), metabolism of carnitine has not been studied in humans with this illness. In this retrospective database review from 23 patients admitted to a HD-specialized nursing home unit, we found a relatively high prevalence of hypocarnitinemia (6 cases, 26%).

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5.

Analgesic control and functional outcome after knee arthroscopy: results of a randomized double-blinded trial comparing a hyaluronic acid supplement with bupivacaine.

Objective: Hyaluronic acid (HA) is a naturally occurring substance within normal synovial joints. Although its efficacy in treating osteoarthritis has been evaluated, it has not been established whether it is of benefit after routine arthroscopic procedures. We hypothesized that immediate supplementation with HA after completion of arthroscopy would result in improved short-term analgesic and functional outcomes after knee arthroscopy.

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections.

Dopamine, affordance and active inference.

The role of dopamine in behaviour and decision-making is often cast in terms of reinforcement learning and optimal decision theory. Here, we present an alternative view that frames the physiology of dopamine in terms of Bayes-optimal behaviour. In this account, dopamine controls the precision or salience of (external or internal) cues that engender action.

Registered nurse retention strategies in nursing homes: a two-factor perspective.

Background: As the American population ages and the proportion of individuals over the age of 65 expands, the demand for high-quality nursing home care will increase. However, nursing workforce instability threatens care quality and sustainability in this sector. Despite increasing attention to nursing home staff turnover, far less is known about registered nurse (RN) retention.

An uneven spread: a review of public involvement in the National Institute of Health Research's Health Technology Assessment program.

Objectives: This study comprises a review of public involvement strategies across the five stages of research management in the UK's HTA program at the end of a 10-year period. These five stages are: identification of topics; prioritization of these topics as researchable questions; commissioning of research; monitoring of projects throughout their implementation; and publication and dissemination of findings.

Methods: Internal HTA documentation was analyzed alongside narrative analysis of semi-structured interviews of program staff, and a rapid review of published literature.

Disease progression and characteristics of HIV-infected women with and without a history of criminal justice involvement.

Early HIV diagnosis followed by prompt linkage to and consistent retention in HIV-related care is important to decrease morbidity and mortality. Progression to AIDS is of particular interest in HIV-positive women with a history of criminal justice-involvement due to their lack of access to care in the community and poor retention in HIV primary care. In this retrospective cohort study, we characterize the risk of developing AIDS among HIV-infected women with and without a history of criminal justice-involvement.

Dynamic causal modeling with neural fields.

The aim of this paper is twofold: first, to introduce a neural field model motivated by a well-known neural mass model; second, to show how one can estimate model parameters pertaining to spatial (anatomical) properties of neuronal sources based on EEG or LFP spectra using Bayesian inference. Specifically, we consider neural field models of cortical activity as generative models in the context of dynamic causal modeling (DCM). This paper considers the simplest case of a single cortical source modeled by the spatiotemporal dynamics of hidden neuronal states on a bounded cortical surface or manifold.

Alterations in brain connectivity underlying beta oscillations in Parkinsonism.

Cortico-basal ganglia-thalamocortical circuits are severely disrupted by the dopamine depletion of Parkinson's disease (PD), leading to pathologically exaggerated beta oscillations. Abnormal rhythms, found in several circuit nodes are correlated with movement impairments but their neural basis remains unclear. Here, we used dynamic causal modelling (DCM) and the 6-hydroxydopamine-lesioned rat model of PD to examine the effective connectivity underlying these spectral abnormalities.

Dynamic causal models and physiological inference: a validation study using isoflurane anaesthesia in rodents.

Generative models of neuroimaging and electrophysiological data present new opportunities for accessing hidden or latent brain states. Dynamic causal modeling (DCM) uses Bayesian model inversion and selection to infer the synaptic mechanisms underlying empirically observed brain responses. DCM for electrophysiological data, in particular, aims to estimate the relative strength of synaptic transmission at different cell types and via specific neurotransmitters.

DCM for complex-valued data: cross-spectra, coherence and phase-delays.

This note describes an extension of Bayesian model inversion procedures for the Dynamic Causal Modeling (DCM) of complex-valued data. Modeling complex data can be particularly useful in the analysis of multivariate ergodic (stationary) time-series. We illustrate this with a generalization of DCM for steady-state responses that models both the real and imaginary parts of sample cross-spectra.

Sorafenib enhances pemetrexed cytotoxicity through an autophagy-dependent mechanism in cancer cells.

Pemetrexed (ALIMTA) is a folate anti-metabolite that has been approved for the treatment of non-small cell lung cancer, and has been shown to stimulate autophagy. In the present study, we sought to further understand the role of autophagy in the response to pemetrexed and to test if combination therapy could enhance the level of toxicity through altered autophagy in tumor cells. The multikinase inhibitor sorafenib (NEXAVAR), used in the treatment of renal and hepatocellular carcinoma, suppresses tumor angiogenesis and promotes autophagy in tumor cells.