Levels of systemic metal ions in patients with intramedullary nails.

Background: It is being increasingly recognized that orthopedic implants are associated with adverse tissue responses, mediated by degradation products. Recent interest has been focused on the production of metal ions from hip arthroplasty. Few studies have reviewed fracture fixation devices and their metal ion production.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Cardiomyopathy and woolly haircoat syndrome (CWH) of Poll Hereford cattle is a lethal, autosomal recessive disorder. Cardiac and haircoat changes are congenital, neonatal ocular keratitis develops in some cases and death usually occurs within the first 12 weeks of life. We undertook a homozygosity mapping approach to identify the chromosomal location of the causative gene.

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

Objectives: The phenotypic triad of arrhythmogenic right ventricular cardiomyopathy (ARVC) associated with palmoplantar keratoderma and woolly hair has been previously associated with homozygous mutations in both plakoglobin and desmoplakin, which are both critical components of the desmosome. We present here a clinical and genetic study of a consanguineous pedigree in which 2 siblings present with ARVC with left ventricular involvement and associated mild palmoplantar keratoderma and woolly hair.

Methods: Clinical evaluation of the 2 patients and their family members was undertaken along with a homozygosity-mapping approach to identify the relevant gene and sequencing analysis to identify the causative mutation.

DNA microarray analysis of the heat shock transcriptome of the obligate intracytoplasmic pathogen Rickettsia prowazekii.

Here we present the first oligonucleotide DNA microarray analysis of global gene expression changes in the obligate intracytoplasmic pathogen Rickettsia prowazekii using temperature upshift as a model stress condition, and we describe a methodology for isolating highly purified rickettsial RNA. In toto, 23 transcripts were significantly increased by temperature upshift (> or = 2.0-fold; P < 0.

"I was never like that": Australian findings on the psychological and psychiatric sequelae of corticosteroids in haematology treatments.

Goals Of Work: Corticosteroid treatments have been well documented to cause severe emotional and even psychiatric disturbances. Despite that corticosteroid use is at the core of most treatment protocols for haematological malignancies, there is a dearth of published research (and controversy in the existing research) on the emotional and psychiatric sequelae of corticosteroid use for haematology patients and its connection with pre-existing mental history. This paper aims to address this hiatus and confusion by examining the emotional and psychiatric side effects of corticosteroids on haematology patients in Australia.

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

Background: Familial hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death among young and apparently healthy people. Autosomal dominant mutations within genes encoding sarcomeric proteins have been identified. An autosomal recessive form of HCM has been discovered in a group of Amish children that is associated with poor prognosis and death within the first year of life.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Background: The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous neurodegenerative disorders in which the cardinal pathologic feature is upper motor neuron degeneration leading to progressive spasticity and weakness of the lower limbs. To date, 14 autosomal recessive HSP loci have been mapped.

Methods: We have identified a large consanguineous Omani family in which an autosomal recessive form of HSP is segregating.

The Role of Total Elbow Arthroplasty in Complex Distal Humeral Fractures.

Fractures of the distal humerus are routinely treated by open reduction and internal fixation in an attempt to retain a painless, stable and functional joint. However, results of fixation, even with advances in plate technology, are still dependent on screw purchase and bone quality. Reported results, over the past decade, now support consideration of primary total elbow arthroplasty, in cases of highly comminuted distal humeral fractures, especially in the elderly who have low physical demands, or in those who have significant pre-existing inflammatory joint disease resulting in marked joint destruction.

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportation, mitochondrial malfunction, and increased oxidative stress have been proposed, the pathogenic basis underlying the neuronal loss is unknown. We have performed linkage analysis to refine the extent of the SPG5 disease locus and conducted sequence analysis of the genes located within this region.

Consanguinity and deafness in Omani children.

This study was based on a national retrospective analysis of 1400 questionnaires on the causes of deafness in Omani children, collected from 1986 to 2000. It was found that 70% of the deaf children were from parents of consanguineous marriages, and 30% from non-consanguineous unions. In those with consanguineous families 70.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

The generation and homeostasis of bone tissue throughout development and maturity is controlled by the carefully balanced processes of bone formation and resorption. Disruption of this balance can give rise to a broad range of skeletal pathologies. Lethal osteosclerotic bone dysplasia (or, Raine syndrome) is an autosomal recessive disorder characterized by generalized osteosclerosis with periosteal bone formation and a distinctive facial phenotype.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

The aim of this study was to characterize cardiovascular involvement in a large number of patients with LEOPARD syndrome. Twenty-six patients (age range 0 to 63 years, median age at the time of the study evaluation 17 years) underwent clinical and genetic investigations. Familial disease was ascertained in 9 patients.

The case for Aboriginal Health Workers in palliative care.

Objectives: The findings are drawn from a 2-year research project, funded by the National Health and Medical Research Council (NHMRC), which aimed to develop an innovative model for Indigenous palliative care. The findings presented in this article explore one important strategy for putting Aboriginal families and their communities at the centre of the model: that is, the employment of Aboriginal Health Workers (AHWs) in relation to the provision of palliative care in the Northern Territory.

Methods: The data were collected from 72 qualitative interviews conducted throughout the regional, rural and remote areas of the Northern Territory with Indigenous patients and carers in the Northern Territory and the health professionals who care for them.

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

ROR2 is a member of the cell surface receptor tyrosine kinase (RTKs) family of proteins and is involved in the developmental morphogenesis of the skeletal, cardiovascular and genital systems. Mutations in ROR2 have been shown to cause two distinct human disorders, autosomal recessive Robinow syndrome and dominantly inherited Brachydactyly type B. The recessive form of Robinow syndrome is a disorder caused by loss-of-function mutations whereas Brachydactyly type B is a dominant disease and is presumably caused by gain-of-function mutations in the same gene.

Review of contraception in ungulate species.

Most ungulate species are herd animals. In captivity, and increasingly so in the wild, space constraints limit natural behaviors associated with group dynamics, possibly resulting in inbreeding and/or overpopulation. This situation has necessitated research regarding contraception of various species of hoofstock.

Roles and responsibilities of chief medical officers in member organizations of the Association of American Medical Colleges.

Purpose: To explore the roles of physician leaders who hold titles such as chief medical officer (CMO), vice president for medical affairs, and vice dean for clinical affairs in Association of American Medical Colleges (AAMC) member organizations, and to identify critical success factors for these positions.

Method: An Internet-based survey was submitted to 340 physician leaders in 281 AAMC member institutions. The survey posed questions regarding demographics, titles, reporting relationships, time commitments, scope of responsibility, accomplishments, and challenges related to recipients' positions, among other questions.

Quality assurance assessment of the use of linezolid in the treatment of thermal injury patients at a community teaching hospital.

We sought to evaluate the adverse effect profile of linezolid among thermal injury patients requiring treatment for Enterococcus species or other Gram-positive infection warranting treatment with linezolid. Seventy-six inhalation injury and/or thermal injury patients experiencing 94 exposures to linezolid for 48 hours or longer (range, 2-83 days) were included. We evaluated leukocyte count and platelet count for the time period preceding, during, and after therapy with linezolid based on specified time periods of exposure for evaluation of specific adverse effects.

Faecal glucocorticoid metabolites and alarm calling in free-living yellow-bellied marmots.

When individuals of a variety of species encounter a potential predator, some, but not all, emit alarm calls. To explain the proximate basis of this variation, we compared faecal glucocorticoid metabolite concentrations in live-trapped yellow-bellied marmots (Marmota flaviventris) between occasions when they did and did not emit alarm calls. We found that marmots had significantly higher glucocorticoid levels when they called than when they did not call, suggesting that stress or arousal may play an important role in potentiating alarm calls.

Further phenotypic and genetic variation in ADULT syndrome.

ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth. It is a rare autosomal dominant disorder which has been linked to mutation in the p63 gene. The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting).

Insights on Aboriginal peoples' views of cancer in Australia.

Although the incidence of cancer in Indigenous peoples is similar to its incidence in the overall Australian population, Indigenous peoples are less likely to access early detection and medical interventions resulting in higher mortality and morbidity rates. To explore and address this discrepancy, the National Health and Medical Research Council funded a research study to examine Indigenous peoples' views of cancer and cancer treatments with an end goal of developing an innovative model of Indigenous Palliative Care. Seventy-two participants were interviewed from four geographical areas within the Northern Territory (Australia) including patients, caregivers, Indigenous and non-Indigenous health care workers, and interpreters.

The natural history of Noonan syndrome: a long-term follow-up study.

Objective: To define better the adult phenotype and natural history of Noonan syndrome.

Design: A prospective observational study of a large cohort.

Results: Data are presented for 112 individuals with Noonan syndrome (mean age 25.