Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in mice have shown that FGFR2 maintains a critical balance between the proliferation and differentiation of osteoprogenitor cells. We have identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader-Willi (PW)-like features. Only a minority of cases in the literature have been characterized with high resolution techniques, making genotype-phenotype correlations difficult. We report 12 individuals with overlapping, 200-kb to 16.

The effects of a multiflavonoid supplement on vascular and hemodynamic parameters following acute exercise.

Unlabelled: Antioxidants can decrease oxidative stress and combined with acute exercise they may lead to further decreases in blood pressure. The purpose of this study was to investigate the effects of 2 weeks of antioxidant supplementation on vascular distensibility and cardiovascular hemodynamics during postexercise hypotension.

Methods: Twenty young subjects were randomized to placebo (n = 10) or antioxidant supplementation (n = 10) for two weeks.

Breaking the 'harmony' of TNF-α signaling for cancer treatment.

Tumor necrosis factor-alpha (TNF-α) binds to two distinct receptors, TNFR1/p55 and TNFR2/p75. TNF-α is implicated in the processes of tumor growth, survival, differentiation, invasion, metastases, secretion of cytokines and pro-angiogenic factors. We have shown that TNFR2/p75 signaling promotes ischemia-induced angiogenesis via modulation of several angiogenic growth factors.

The effect of lengthening life expectancy on future pension and long-term care expenditure in England, 2007 to 2032.

Background: The aim of this analysis is to examine the effect of different assumptions about future trends in life expectancy (LE) on the sustainability of the pensions and long-term care (LTC) systems. The context is the continuing debate in England about the reform of state pensions and the reform of the system for financing care and support.

Methods: Macro and micro simulation models are used to make projections of future public expenditure on LTC services for older people and on state pensions and related benefits, making alternative assumptions on increases in future LE.

Minimally abnormal Pap testing and cervical histology in HIV-infected women.

Objective: To assess the underlying histology of HIV-infected women with minimally abnormal Pap tests compared to HIV-uninfected women by evaluating their colposcopic and histologic outcomes.

Methods: Retrospective analysis was performed to identify HIV-infected women who had at least one cervical Pap test from 2002 through 2008 at Boston Medical Center. We identified women who underwent colposcopy within 6 months of a minimally abnormal Pap test (atypical squamous cells of undetermined significance with positive high-risk human papillomavirus testing [ASCUS/HPV+] or low-grade squamous intraepithelial lesion (LSIL)).

Setting up an Emergency Medicine training program.

MRI is the preferred modality to investigate seizure as diagnostic yield is higher and more specific due to its varied applications. Total of 160 brain MR images of patients suffering from seizure during one year period was evaluated. All seizure cases underwent specific protocol for imaging that targeted hippocampal/mesial temporal lobe imaging.

The value of computed tomography scanning for the detection of coronary artery disease in patients with idiopathic pulmonary fibrosis.

Background And Objective: Patients with idiopathic pulmonary fibrosis (IPF) have a higher prevalence of coronary artery disease and this could have an impact on their outcomes. We investigated the predictive ability of coronary artery calcification, assessed by routine CT, which may predict the presence of coronary artery disease.

Methods: The study cohort consisted of patients with IPF and with left heart catheterization data plus CT scans from July 2003 to July 2008.

Building capacity for acute care in developing countries.

The article provides a 'short journey' to neighbours in the Australasian region to highlight some innovation in health policy, rural health education, and professional teams, in developing countries. The innovations are described and challenges discussed.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here.

Effects of nutritional condition on spring migration: do migrants use resource availability to keep pace with a changing world?

Because of their reliance on temporally predictable resources across large spatial scales, migratory birds may be especially vulnerable to anthropogenic climate and land-use changes. Although some long-distance migrants appear unable to adjust to phenological shifts on their wintering grounds, several short- and medium-distance migrants appear to have altered the timing and/or distance of their yearly movements to compensate for the environmental effects of global warming. Which environmental cues are responsible for stimulating these adjustments is an unanswered question, although most studies have focused on weather conditions.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally normal type I procollagen, whereas moderately severe to lethal forms of OI usually result from structural defects in one of the type I procollagen chains.

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

Desmoplakin is the major linker in desmosomes in epithelia and myocardium, anchoring intermediate filaments by the C-terminus to plakoglobin and plakophilin in the desmosomal plaque. Mutations in the gene DSP encoding desmoplakin have been associated with various phenotypes affecting skin and/or heart. One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is caused by recessive mutations in the gene DSP resulting in truncation of the desmoplakin C-terminus.

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here we present two new patients and review 30 patients from the literature with HPE and variants of agnathia.

Palliative care training.

This article discusses a project that explored and addressed the palliative care education needs of staff working in two nursing homes, using a practice development framework. This has enhanced the provision of palliative care to residents in both homes, and provided ongoing training and awareness sessions for staff.

Prognostic impact of C-REL expression in diffuse large B-cell lymphoma.

Diffuse large B-cell lymphoma (DLBCL) with a germinal center B-cell (GCB) phenotype is believed to confer a better prognosis than DLBCL with an activated B-cell (ABC) phenotype. Previous studies have suggested that nuclear factor-kappaB (NF-kappaB) activation plays an important role in the ABC subtype of DLBCL, whereas c-REL amplification is associated with the GCB subtype. Using immunohistochemical techniques, we examined 68 newly diagnosed de novo DLBCL cases (median follow-up 44 months, range 1 to 142 months) for the expression of c-REL, BCL-6, CD10, and MUM1/IRF4.

Home care safety perspectives from clients, family members, caregivers and paid providers.

There is a growing demand for home care services in Canada. Yet, overwhelmingly, research on patient safety has focused on institutional settings. The Canadian Patient Safety Institute convened a Core Safety in Home Care Team of researchers and decision-makers to identify priority research areas and to advance patient safety research in home care.

Comparison of two self-directed weight loss interventions: Limited weekly support vs. no outside support.

Objective: The purpose of this study was to compare the efficacy of two home-based weight loss interventions that differ only in the amount of outside support provided.

Methods: This was a 12-week, randomized, controlled trial. One group received limited support (LWS, n = 35) via a single 10 min phone call each week while another group received no weekly support (NWS, n = 28).

A perspective on developing emergency medicine as a specialty.

Aims: A rapidly increasing number of countries are developing their capacities to respond to acute illness and injury and organizing emergency medicine training programs. This article offers some insight into the way emergency medicine has undergone development in the Australasian region.

Methods: The perspective is built from experience in Australia, New Zealand and Papua New Guinea.

Monitoring progress toward CDC's health protection goals: health outcome measures by life stage.

Objectives: From 2004 through 2005, as part of a major strategic planning process called the Futures Initiative, the Centers for Disease Control and Prevention (CDC) developed a set of Health Protection Goals to make the best use of agency resources to achieve health impact. These goals were framed in terms of people, places, preparedness, and global health. This article presents a goals framework and a set of health outcome measures with historical trends and forecasts to track progress toward the Healthy People goals by life stage (Infants and Toddlers, Children, Adolescents, Adults, and Older Adults and Seniors).

Elements of morphology: standard terminology for the lips, mouth, and oral region.

An international group of clinicians and scientists working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients.

Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.

Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993].

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

We describe two unrelated patients with mental retardation and normal karyotypes found to have relatively large homozygous deletions (>150 kb) of different regions detected by array comparative genomic hybridization (aCGH). Patient 1 showed a 157-214 kb deletion at 8q24.2, containing BAC clone RP11-17M8.