CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.

Pharmaceutical and preclinical evaluation of Advax adjuvant as a dose-sparing strategy for ant venom immunotherapy.

A major challenge in broader clinical application of Jack Jumper ant venom immunotherapy (JJA VIT) is the scarcity of ant venom which needs to be manually harvested from wild ants. Adjuvants are commonly used for antigen sparing in other vaccines, and thereby could potentially have major benefits to extend JJA supplies if they were to similarly enhance JJA VIT immunogenicity. The purpose of this study was to evaluate the physicochemical and microbiological stability and murine immunogenicity of low-dose JJA VIT formulated with a novel polysaccharide adjuvant referred to as delta inulin or Advax™.

Mycoplasma pneumoniae DNA detection and specific antibody class response in patients from two tertiary care hospitals in tropical Sri Lanka.

Purpose: Respiratory tract infections are a major cause of global morbidity and mortality. Pneumonia is the ninth leading cause of mortality in Sri Lanka. Atypical pathogens cause about one-fifth of community-acquired pneumonia, while Mycoplasma pneumoniae accounts for about 50 %.

Cell adhesion molecules are altered during irinotecan-induced mucositis: a qualitative histopathological study.

Purpose: Chemotherapy-induced mucositis is characterised by damage to mucous membranes throughout the alimentary tract. This study aims to investigate the expression of cell adhesion molecules (CAMs) following treatment with irinotecan.

Methods: Dark agouti rats received a single dose of 175 mg/kg irinotecan and sacrificed at various time points after treatment.

Establishment and characterization of fetal and maternal mesenchymal stem/stromal cell lines from the human term placenta.

Introduction: Human placental mesenchymal stem/stromal cells (MSC) are an attractive source of MSC with great therapeutic potential. However, primary MSC are difficult to study in vitro due to their limited lifespan and patient-to-patient variation.

Methods: Fetal and maternal MSC were prepared from cells of the chorionic and basal plates of the placenta, respectively.

In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts.

SRY (Sex Determining Region Y)-Box 4 or Sox4 is an important regulator of the pan-neuronal gene expression during post-mitotic cell differentiation within the mammalian brain. Sox4 gene locus has been previously characterized with multiple sense and overlapping natural antisense transcripts [1], [2]. Here we provide accompanying data on various analyses performed and described in Ling et al.

Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain.

Natural antisense transcripts (NATs) are involved in cellular development and regulatory processes. Multiple NATs at the Sox4 gene locus are spatiotemporally regulated throughout murine cerebral corticogenesis. In the study, we evaluated the potential functional role of Sox4 NATs at Sox4 gene locus.

Elucidating the Biological Mechanisms Linking Depressive Symptoms With Type 2 Diabetes in Men: The Longitudinal Effects of Inflammation, Microvascular Dysfunction, and Testosterone.

Objective: This prospective cohort study sought to examine key biological measures linking depressive symptoms with Type 2 diabetes, specifically inflammation, microvascular dysfunction, and androgens.

Methods: A cohort of 688 men without diabetes who were 35 years or older were followed up for 5 years. Venous interleukin-6, high-sensitivity C-reactive protein, sE-selectin, endogenous total testosterone, fasting glucose, and glycated hemoglobin (HbA1c) were quantified at baseline and 5 years later.

Viral RNA in the influenza vaccine may have contributed to the development of ANCA-associated vasculitis in a patient following immunisation.

A number of large studies have demonstrated influenza vaccinations to be safe and effective. However, there have been some sporadic case reports, describing a temporal association of influenza vaccination with onset or relapse of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis. The nature of this association, beyond time of occurrence, remains unknown.

Unifocal Langerhans cell histiocytosis of the superior oblique muscle.

Orbital Langerhans cell histiocytosis (LCH) without bone involvement is rare. Isolated involvement of an extraocular muscle without bone change, to the best of the authors' knowledge, has not been previously reported. They describe a unique case of unifocal LCH of the superior oblique muscle with no bone involvement.

Dual epigenetic targeting with panobinostat and azacitidine in acute myeloid leukemia and high-risk myelodysplastic syndrome.

Therapeutic options are limited for elderly patients with acute myeloid leukemia (AML). A phase Ib/II study was undertaken to evaluate the maximum-tolerated dose (MTD) and preliminary efficacy of the pan-histone deacetylase inhibitor panobinostat (LBH589) in combination with azacitidine in patients with AML or high-risk myelodysplastic syndrome (MDS) naïve to intensive chemotherapy. Thirty-nine patients (AML=29, MDS=10) received azacitidine 75 mg/m(2) subcutaneously (days 1-5) and oral panobinostat (starting on day 5, thrice weekly for seven doses) in 28-day cycles until toxicity or disease progression.

Immunoglobulin G4-related disease of the hard palate.

A 71-year-old woman presented with erythematous, nontender, bilateral hard palate nodules of 6-month duration. Biopsy showed collagenous sclerosis and a follicular lymphoplasmacytic infiltrate among the minor salivary glands. Immunoglobulin G (IgG) and IgG4 staining showed 280 IgG4(+) cells per high-power field and a ratio of IgG4(+) to IgG(+) cells of 0.

Bone turnover markers.

Bones are constantly remodelled to cope with the body's calcium requirements and to repair microscopic damage. The entire skeleton is replaced every 10 years in adults, and around 10% of the skeleton is involved in bone remodelling at any one time.

Nijmegen-Bethesda assay to measure factor VIII inhibitors.

Hemophilia A is an inherited bleeding disorder caused by a deficiency of factor VIII coagulant activity (FVIII:C). Patients are treated with infusions of either plasma-derived or recombinant factor VIII. However, some patients develop inhibitory antibodies (inhibitors) to infused factor VIII which render it ineffective.

Sequence-based identification of legionella.

Legionella strains are considered biologically inert with respect to traditional identification schemes. Various phenotypic alternatives have been attempted but all have lacked resolution as additional species have been added to what is proving to be a large genus. Only sequence-based schemes have the required resolution to confidently speciate or recognize potentially novel strains.

Comparative approach to understanding traumatic injury in the immature, postnatal brain of domestic animals.

Traumatic brain injury (TBI) is a frequent occurrence in veterinary medicine, but the mechanisms leading to brain damage after a head impact are incompletely understood, particularly in the postnatal immature and still developing nervous system. This paper reviews neurotrauma studies, largely in paediatric humans and experimental animal models, in order to outline the pathophysiological and biomechanical events likely to be operative in head trauma involving domestic animal species in the postnatal period, as there is almost no other information available in the veterinary literature. Predicting the outcome of TBI is particularly difficult at this developmental time, in large part because recovery is influenced by the stage of brain maturation and neuroplasticity.

A model for the change of cancellous bone volume and structure over time.

A model is presented for characterizing the process by which cancellous bone changes in volume and structure over time. The model comprises simulations of local changes resulting from individual remodelling events, known as bone multicellular units (BMU), and an ordinary differential equation for connecting the number of remodelling events to real time. The model is validated on micro-CT scans of tibiae of normal rats, estrogen deprived rats and estrogen deprived rats treated with bisphosphonates.

Changes in the prevalence of psychological distress and use of antidepressants or anti-anxiety medications associated with comorbid chronic diseases in the adult Australian population, 2001-2008.

Objective: To investigate changes in the prevalence of psychological distress and use of antidepressants or anti-anxiety medications associated with comorbid chronic diseases in the adult Australian population from 2001 to 2008.

Methods: Participants were 48,359 adults aged ≥ 25 years from the 2001, 2004-05 or 2007-08 Australian National Health Surveys. Clinically significant psychological distress was determined with the 10-item Kessler Psychological Distress Scale (using scores ≥ 30).

Suppression of PDGF-induced PI3 kinase activity by imatinib promotes adipogenesis and adiponectin secretion.

Improved glucose and lipid metabolism is a unique side effect of imatinib therapy in some chronic myeloid leukaemia (CML) patients. We recently reported that plasma levels of adiponectin, an important regulator of insulin sensitivity, are elevated following imatinib therapy in CML patients, which could account for these improved metabolic outcomes. Adiponectin is secreted exclusively from adipocytes, suggesting that imatinib modulates adiponectin levels directly, by transcriptional upregulation of adiponectin in pre-existing adipocytes, and/or indirectly, by stimulating adipogenesis.

Bidirectional association between depression and sexual dysfunction: a systematic review and meta-analysis.

Introduction: Depression is frequently associated with sexual dysfunction in both men and women.

Aim: To examine whether depression predicts sexual dysfunction and, conversely, whether sexual dysfunction predicts depression.

Method: A systematic review and meta-analysis was conducted.

Changes in cardiovascular disease burden associated with psychopathology in Australian adults 2004-2008.

Objective: The objective was to investigate changes in self-reported cardiovascular disease (CVD) burden associated with psychopathology for Australia from 2004 to 2008.

Method: Data analyzed were from 32,073 participants aged ≥25 years from the 2004-2005 or 2007-2008 National Health Surveys. Lifetime diagnosis of CVD (heart attack or stroke) was by self-report.

"We are what we eat!" Invasive intestinal mucormycosis: A case report and review of the literature.

Gastrointestinal mucormycosis is an uncommon, life-threatening, angioinvasive infection with only one previous report of disease involving the jejunum. We present a case of invasive jejunal mucormycosis and review the literature, highlighting the rare clinical presentation and the value of molecular diagnostic methods. Given the global increase in patient populations at risk of mucormycosis, clinicians need to maintain a high index of suspicion and perform timely and appropriate evaluation to improve patient outcome.

Trends in health-related quality of life and health service use associated with body mass index and comorbid major depression in South Australia, 1998-2008.

Purpose: To investigate 10-year trends in health-related quality of life and health service use associated with body mass index (BMI) and comorbid major depression in South Australia.

Methods: Data were obtained from 9,059 people aged ≥ 15 years who participated in representative surveys of the South Australian population in 1998, 2004, and 2008. Major depression was determined using the mood module of the PRIME-MD.

Diagnosis and management of adult patients with von Willebrand disease in South Australia.

We have analyzed the databases for von Willebrand disease (VWD) from the hemophilia center for adult patients with bleeding disorders in South Australia. We define the prevalence of types of VWD to determine the proportion of who would be treated with factor (F) VIII/von Willebrand factor (VWF) concentrate to prevent or control hemorrhage. In severe or moderately severe patients, we use plasma-derived FVIII/VWF concentrate, and for mild to severe cases, we use desmopressin plus tranexamic acid.