Musical tasks targeting preserved and impaired functions in two dementias.

Studies of musical abilities in dementia have for the most part been rather general assessments of abilities, for instance, assessing retention of music learned premorbidly. Here, we studied patients with dementias with contrasting cognitive profiles to explore specific aspects of music cognition under challenge. Patients suffered from Alzheimer's disease (AD), in which a primary impairment is in forming new declarative memories, or Lewy body disease (PD/LBD), a type of parkinsonism in which executive impairments are prominent. In the AD patients, we examined musical imagery. Behavioral and neural evidence confirms involvement of perceptual networks in imagery, and these are relatively spared in early stages of the illness. Thus, we expected patients to have relatively intact imagery in a mental pitch comparison task. For the LBD patients, we tested whether executive dysfunction would extend to music. We probed inhibitory skills by asking for a speeded pitch or timbre judgment when the irrelevant dimension was held constant or also changed. Preliminary results show that AD patients score similarly to controls in the imagery tasks, but PD/LBD patients are impaired relative to controls in suppressing some irrelevant musical dimensions, particularly when the required judgment varies from trial to trial

Innate Immune Function in Placenta and Cord Blood of Hepatitis C – Seropositive Mother-Infant Dyads

Vertical transmission accounts for the majority of pediatric cases of hepatitis C viral (HCV) infection. In contrast to the adult population who develop persistent viremia in ∼80% of cases following exposure, the rate of mother-to-child transmission (2–6%) is strikingly low. Protection from vertical transmission likely requires the coordination of multiple components of the immune system. Placenta and decidua provide a direct connection between mother and infant. We hypothesized that innate immune responses would differ across the three compartments (decidua, placenta and cord blood) and that hepatitis C exposure would modify innate immunity in these tissues. The study was comprised of HCV-infected and healthy control mother and infant pairs from whom cord blood, placenta and decidua were collected with isolation of mononuclear cells. Multiparameter flow cytometry was performed to assess the phenotype, intracellular cytokine production and cytotoxicity of the cells. In keeping with a model where the maternal-fetal interface provides antiviral protection, we found a gradient in proportional frequencies of NKT and γδ-T cells being higher in placenta than cord blood. Cytotoxicity of NK and NKT cells was enhanced in placenta and placental NKT cytotoxicity was further increased by HCV infection. HCV exposure had multiple effects on innate cells including a decrease in activation markers (CD69, TRAIL and NKp44) on NK cells and a decrease in plasmacytoid dendritic cells in both placenta and cord blood of exposed infants. In summary, the placenta represents an active innate immunological organ that provides antiviral protection against HCV transmission in the majority of cases; the increased incidence in preterm labor previously described in HCV-seropositive mothers may be related to enhanced cytotoxicity of NKT cells

What do general practitioners know about ADHD? Attitudes and knowledge among first-contact gatekeepers: systematic narrative review

Background: Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood disorder with international prevalence estimates of 5 % in childhood, yet significant evidence exists that far fewer children receive ADHD services. In many countries, ADHD is assessed and diagnosed in specialist mental health or neuro-developmental paediatric clinics, to which referral by General (Family) Practitioners (GPs) is required. In such ‘gatekeeper’ settings, where GPs act as a filter to diagnosis and treatment, GPs may either not recognise potential ADHD cases, or may be reluctant to refer. This study systematically reviews the literature regarding GPs’ views of ADHD in such settings. Methods: A search of nine major databases was conducted, with wide search parameters; 3776 records were initially retrieved. Studies were included if they were from settings where GPs are typically gatekeepers to ADHD services; if they addressed GPs’ ADHD attitudes and knowledge; if methods were clearly described; and if results for GPs were reported separately from those of other health professionals. Results: Few studies specifically addressed GP attitudes to ADHD. Only 11 papers (10 studies), spanning 2000–2010, met inclusion criteria, predominantly from the UK, Europe and Australia. As studies varied methodologically, findings are reported as a thematic narrative, under the following themes: Recognition rate; ADHD controversy (medicalisation, stigma, labelling); Causes of ADHD; GPs and ADHD diagnosis; GPs and ADHD treatment; GP ADHD training and sources of information; and Age, sex differences in knowledge and attitudes. Conclusions: Across times and settings, GPs practising in first-contact gatekeeper settings had mixed and often unhelpful attitudes regarding the validity of ADHD as a construct, the role of medication and how parenting contributed to presentation. A paucity of training was identified, alongside a reluctance of GPs to become involved in shared care practice. If access to services is to be improved for possible ADHD cases, there needs to be a focused and collaborative approach to training

A case of bilateral self-induced keratoconus in a patient with tourette syndrome associated with compulsive eye rubbing: case report

<p>Abstract</p> <p>Background</p> <p>Tourette syndrome is a neurologic disorder that is characterized by repetitive muscle contractions that produce stereotyped movements or sounds. Approximately 50% of individuals with TS also exhibit obsessive-compulsive behaviors including eye rubbing. We report a case of bilateral self-induced keratoconus in a patient with TS, associated with compulsive eye rubbing.</p> <p>Case presentation</p> <p>A 35-year-old man was first seen in our clinic as an outpatient due to rapid deterioration of vision in his right eye associated with pain and tearing, over a period of one month. Slit lamp biomicroscopy of the right eye showed a central stromal scar due to corneal hydrops. Clinical examination and corneal topography of the left eye were normal. Six months later the patient developed corneal hydrops of his left eye. During the following examinations his vision continued to deteriorate in both eyes, while a central stromal scar was forming in his left cornea. Four years after the initial examination the patient's visual acuity was no light perception in the right eye and counting fingers at 33 cm in the left eye. His right eye was phthisic.</p> <p>Conclusions</p> <p>Our patient developed a rapidly progressing bilateral corneal ectasia and phthisis of his right eye during a time period of 4 years. This unusual pattern suggests that the patient's compulsive behavior compromised both of his corneas and led to bilateral keratoconus.</p

Testicular tuberculosis presenting with metastatic intracranial tuberculomas only: a case report

<p>Abstract</p> <p>Introduction</p> <p>Intracranial tuberculomas are a rare complication of tuberculosis occurring through hematogenous spread from an extracranial source, most often of pulmonary origin. Testicular tuberculosis with only intracranial spread is an even rarer finding and to the best of our knowledge, has not been reported in the literature. Clinical suspicion or recognition and prompt diagnosis are important because early treatment can prevent patient deterioration and lead to clinical improvement.</p> <p>Case presentation</p> <p>We present the case of a 51-year-old African man with testicular tuberculosis and multiple intracranial tuberculomas who was initially managed for testicular cancer with intracranial metastasis. He had undergone left radical orchidectomy, but subsequently developed hemiparesis and lost consciousness. Following histopathological confirmation of the postoperative sample as chronic granulomatous infection due to tuberculosis, he sustained significant clinical improvement with antituberculous therapy, recovered fully and was discharged at two weeks post-treatment.</p> <p>Conclusion</p> <p>The clinical presentation of intracranial tuberculomas from an extracranial source is protean, and delayed diagnosis could have devastating consequences. The need to have a high index of suspicion is important, since neuroimaging features may not be pathognomonic.</p

Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus Proposal

Activation of tissue mast cells (MCs) and their abnormal growth and accumulation in various organs are typically found in primary MC disorders also referred to as mastocytosis. However, increasing numbers of patients are now being informed that their clinical findings are due to MC activation (MCA) that is neither associated with mastocytosis nor with a defined allergic or inflammatory reaction. In other patients with MCA, MCs appear to be clonal cells, but criteria for diagnosing mastocytosis are not met. A working conference was organized in 2010 with the aim to define criteria for diagnosing MCA and related disorders, and to propose a global unifying classification of all MC disorders and pathologic MC reactions. This classification includes three types of `MCA syndromes' (MCASs), namely primary MCAS, secondary MCAS and idiopathic MCAS. MCA is now defined by robust and generally applicable criteria, including (1) typical clinical symptoms, (2) a substantial transient increase in serum total tryptase level or an increase in other MC-derived mediators, such as histamine or prostaglandin D 2, or their urinary metabolites, and (3) a response of clinical symptoms to agents that attenuate the production or activities of MC mediators. These criteria should assist in the identification and diagnosis of patients with MCAS, and in avoiding misdiagnoses or overinterpretation of clinical symptoms in daily practice. Moreover, the MCAS concept should stimulate research in order to identify and exploit new molecular mechanisms and therapeutic targets. Copyright (C) 2011 S. Karger AG, Base

A novel emergency department based prevention intervention program for people living with HIV: evaluation of early experiences

<p>Abstract</p> <p>Background</p> <p>HIV prevention is increasingly focused on people living with HIV (PLWH) and the role of healthcare settings in prevention. Emergency Departments (EDs) frequently care for PLWH, but do not typically endorse a prevention mission. We conducted a pilot exploratory evaluation of the first reported ED program to address the prevention needs of PLWH.</p> <p>Methods</p> <p>This retrospective observational cohort evaluation reviewed program records to describe the first six months of participants and programmatic operation. Trained counselors provided a risk assessment and counseling intervention combined with three linkage interventions: i) linkage to health care, ii) linkage to case management, and iii) linkage to partner counseling and referral.</p> <p>Results</p> <p>Of 81 self-identified PLWH who were approached, 55 initially agreed to participate. Of those completing risk assessment, 17/53 (32%, 95 CI 20% to 46%) reported unprotected anal/vaginal intercourse or needle sharing in the past six months with a partner presumed to be HIV negative. Counseling was provided to 52/53 (98%). For those requesting services, 11/15 (73%) were linked to healthcare, 4/23 (17%) were coordinated with case management, and 1/4 (25%) completed partner counseling and referral.</p> <p>Conclusion</p> <p>Given base resources of trained counselors, it was feasible to implement a program to address the prevention needs for persons living with HIV in an urban ED. ED patients with HIV often have unmet needs which might be addressed by improved linkage with existing community resources. Healthcare and prevention barriers for PLWH may be attenuated if EDs were to incorporate CDC recommended prevention measures for healthcare providers.</p

Adherent Monomer-Misfolded SOD1

Background: Multiple cellular functions are compromised in amyotrophic lateral sclerosis (ALS). In familial ALS (FALS) with Cu/Zn superoxide dismutase (SOD1) mutations, the mechanisms by which the mutation in SOD1 leads to such a wide range of abnormalities remains elusive. Methodology/Principal Findings: To investigate underlying cellular conditions caused by the SOD1 mutation, we explored mutant SOD1-interacting proteins in the spinal cord of symptomatic transgenic mice expressing a mutant SOD1, SOD1 Leu126delTT with a FLAG sequence (DF mice). This gene product is structurally unable to form a functional homodimer. Tissues were obtained from both DF mice and disease-free mice expressing wild-type with FLAG SOD1 (WF mice). Both FLAG-tagged SOD1 and cross-linking proteins were enriched and subjected to a shotgun proteomic analysis. We identified 34 proteins (or protein subunits) in DF preparations, while in WF preparations, interactions were detected with only 4 proteins. Conclusions/Significance: These results indicate that disease-causing mutant SOD1 likely leads to inadequate proteinprotein interactions. This could be an early and crucial process in the pathogenesis of FALS

Integrated knowledge translation in population health intervention research: a case study of implementation and outcomes from a school-based project.

BACKGROUND: Integrated knowledge translation (IKT) is encouraged in population health intervention research (PHIR) to ensure the co-production of policy-relevant research, yet there is little published literature that reports its implementation and outcomes. The purpose of this study was to describe and evaluate the IKT approach used in a school-based PHIR project to understand how the research informed policy and practice and identify what influenced the IKT process. METHODS: A case study approach was used to provide an in-depth description of the IKT process and understand the co-production and application of research evidence. Data were collected through document review, a survey with all elementary school principals in the school board (n = 18) following dissemination of School Reports and interviews with the IKT research team (including two researchers and three knowledge users). RESULTS: Approximately half of the principals reported reading their School Report (52%) and almost all of these principals attributed the partial or full adoption, or implementation, of a new practice as a result of using the information (89%). Key themes related to the IKT process emerged across the interviews, including supportive relationships, role clarity, competing priorities and the complexities of population health interventions. CONCLUSIONS: The findings suggest that, while IKT can support policy and practice, it can be challenging to maintain engagement due to differing priorities and role ambiguity. Additional recognition, investment and research would enable better implementation of the approach, thereby bridging the gap between research, policy and practice