WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to identify the causal gene, describe the phenotype and delineate the mutation spectrum in a consanguineous Quebec arRP family. We performed Arrayed Primer Extension (APEX) technology to exclude ∼500 arRP mutations in ∼20 genes.

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Purpose: Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resulting in an estimated total of 340,000 Chinese RP patients. However, genetic studies of Chinese RP patients have been very limited.

A tale of two citizens: a State Attorney General and a hematologist facilitate translation of research into US Food and Drug Administration actions--a SONAR report.

Purpose: Pharmaceutical safety is a public health issue. In 2005, the Connecticut Attorney General (AG) raised concerns over adverse drug reactions in off-label settings, noting that thalidomide was approved to treat a rare illness, but more than 90% of its use was off label. A hematologist had reported thalidomide with doxorubicin or dexamethasone was associated with venous thromboembolism (VTE) rates of 25%.

Spatial-temporal protein expression of inhibitor of differentiation-1 (Id1) during fetal embryogenesis and in different mouse and human cancer types.

Inhibitor of differentiation-1 (Id1) plays a role in cell proliferation, acquisition of epithelial to mesenchymal transition (EMT) features and angiogenesis. Id1 was shown to be expressed in some tumor types, mainly in advanced dedifferentiated stages. However, recent studies using a validated and highly specific monoclonal antibody against Id1 have challenged many of the results obtained by immunohistochemistry.

Mononuclear ruthenium-water oxidation catalysts: discerning between electronic and hydrogen-bonding effects.

New mononuculear complexes of the general formula [Ru(trpy)(n,n'-F2-bpy)X](m+) [n = n' = 5, X = Cl (3(+)) and H2O (5(2+)); n = n' = 6, X = Cl (4(+)) and H2O (6(2+)); trpy is 2,2':6':2"-terpyridine] have been prepared and thoroughly characterized. The 5,5'- and 6,6'-F2-bpy ligands allow one to exert a remote electronic perturbation to the ruthenium metal center, which affects the combination of species involved in the catalytic cycle. Additionally, 6,6'-F2-bpy also allows through-space interaction with the Ru-O moiety of the complex via hydrogen interaction, which also affects the stability of the different species involved in the catalytic cycle.

Analysis of energetic and exergetic efficiency, and environmental benefits of biomass integrated gasification combined cycle technology.

The problem of the high carbon dioxide emissions linked to power generation makes necessary active research on the use of biofuels in gas turbine systems as a promising alternative to fossil fuels. Gasification of biomass waste is particularly of interest in obtaining a fuel to be run in gas turbines, as it is an efficient biomass-to-biofuel conversion process, and an integration into a combined cycle power plant leads to a high performance with regard to energetic efficiency. The goal of this study was to carry out an energetic, exergetic and environmental analysis of the behaviour of an integrated gasification combined cycle (IGCC) plant fuelled with different kinds of biomass waste by means of simulations.

Non-linear adaptive controllers for an over-actuated pneumatic MR-compatible stepper.

Pneumatics is one of the few actuation principles that can be used in an MR environment, since it can produce high forces without affecting imaging quality. However, pneumatic control is challenging, due to the air high compliance and cylinders non-linearities. Furthermore, the system's properties may change for each subject.

Mineral metabolism in growing cats: changes in the values of blood parameters with age.

The purpose of this study was to describe changes in calcium, phosphorus, magnesium, parathyroid hormone, calcitriol and calcidiol in cats from 3 to 15 months of age. Fourteen European shorthair healthy cats of both sexes (seven males, seven females) belonging to a research colony were studied from 3 to 15 months of age. Plasma concentrations of total calcium, ionised calcium, albumin, phosphorus, magnesium, intact parathyroid hormone (I-PTH), whole parathyroid hormone (W-PTH), calcidiol and calcitriol were measured at 3, 6, 9, 12 and 15 months of age.

Pasture dry matter consumption in European wild boars (Sus scrofa L.) as affected by herbage allowance.

The objective of this study was to evaluate the effect of herbage allowance on pasture DM consumption by growing European wild boar. An additional objective was to evaluate the influence of pasture consumption on supplemental diet intake and BW gain. A previously sown grass-clover pasture was managed by cutting to obtain an herbage mass equivalent to 1,500 kg/ha DM.

A (H1N1) pdm09 HA D222 variants associated with severity and mortality in patients during a second wave in Mexico.

Background: Pandemic type A (H1N1) influenza arose in early 2009, probably in Mexico and the United States, and reappeared in North America in September for seven more months. An amino acid substitution in the hemagglutinin (HA), D222G, has been reported in a significant proportion of patients with a severe and fatal outcome. We studied the prevalence of HA222 substitutions in patients in Mexico during the second wave and its association with clinical outcome and pathogenicity in a mouse model.

Corneal transparency after cross-linking for keratoconus: 1-year follow-up.

Purpose: To evaluate the changes in corneal transparency and thickness measured objectively using Pentacam Scheimpflug (Oculus Optikgeräte GmbH) corneal tomography (densitometry) after corneal cross-linking (CXL).

Methods: Twenty-two eyes from 15 patients with keratoconus underwent CXL. Corneal thickness and curvature as well as lens and corneal densitometry were measured at baseline and 1, 3, 6, and 12 months after CXL with Pentacam.

Comparison of three methods to study biofilm formation by clinical strains of Escherichia coli.

Biofilm formation seems to be a key factor in many bacterial infections, particularly those involving prosthetic implants or urinary catheters, where Escherichia coli is frequently involved. We have determined the ability to form biofilm in vitro of 34 E. coli isolates by 3 different methods (crystal violet staining, BioFilm Ring Test®, and resazurin assay) and tried to correlate biofilm production with phylogenetic background and with the presence of different genes involved in biofilm synthesis.

Id1 and Id3 co-expression correlates with clinical outcome in stage III-N2 non-small cell lung cancer patients treated with definitive chemoradiotherapy.

Background: Inhibitor of DNA binding 1 (Id1) and 3 (Id3) genes have been related with the inhibition of cell differentiation, cell growth promotion and tumor metastasis. Recently, Id1 has been identified as an independent prognostic factor in patients with lung adenocarcinoma, regardless of the stage. Furthermore, Id1 may confer resistance to treatment (both, radiotherapy and chemotherapy).

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosis will require a specific care of patients. Nineteen LCA genes are currently identified and three of them account for both non-syndromic and syndromic forms of the disease.

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

Retinal dystrophies are predominantly caused by mutations affecting the visual phototransduction system and cilia, with few genes identified that function to maintain photoreceptor survival. We reasoned that growth factors involved with early embryonic retinal development would represent excellent candidates for such diseases. Here we show that mutations in the transforming growth factor-β (TGF-β) ligand Growth Differentiation Factor 6, which specifies the dorso-ventral retinal axis, contribute to Leber congenital amaurosis.

Safety and efficacy of maintenance therapy with a nonspecific cytochrome P17 inhibitor (CYP17i) after response/stabilization to docetaxel in metastatic castration-resistant prostate cancer.

Background: Frontline treatment of metastatic castration-resistant prostate cancer (mCRPC) consists of docetaxel-based chemotherapy. The median time to progression (TTP) from chemotherapy initiation is 6 to 8 months. Ketoconazole, a nonspecific cytochrome P17 inhibitor (CYP17i), blocks adrenal androgen synthesis.

Allogenicity of human cardiac stem/progenitor cells orchestrated by programmed death ligand 1.

Rationale: Transplantation of allogeneic cardiac stem/progenitor cells (CPC) in experimental myocardial infarction promoted cardiac regeneration and improved heart function. Although this has enhanced prospects of using allogeneic CPC for cardiac repair, the mechanisms regulating the behavior of these allogeneic cells, which are central to clinical applications, remain poorly understood.

Objective: T cells orchestrate the allogeneic adaptive immune response.

A major target for warm immunoglobulin G autoantibodies: the third external loop of Band 3.

Background: Rh proteins and the Wr(b) antigen, which results from an interaction between Band 3 and glycophorin A, are the most common targets for warm immunoglobulin (Ig)G autoantibodies. Apart from autoanti-Di(b) , a scarce specificity, IgG warm autoantibodies specific for Band 3 have never been characterized by serologic methods.

Study Design And Methods: Blood samples from 120 patients with autoimmune hemolytic anemia (AIHA) and IgG-coated red blood cells (RBCs) were studied by serologic methods.

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

PRRT2 gene mutations have recently been identified as a causative gene of Paroxysmal kinesigenic dyskinesia (PKD), a rare movement disorder characterised by the occurrence of chorea, dystonia or athetosis triggered by sudden action. Some patients have additional intermittent neurologic disorders like infantile convulsions. The association with migraine has been rarely reported in this condition.

Immunocytochemical localization of the translocase of the outer mitochondrial membrane (Tom20) in the human cochlea.

Mitochondrial degeneration in the inner ear is likely a contributing factor in age-related hearing loss and other otopathologies such as Meniere's disease. Most mitochondrial proteins are synthesized in the cytosol and imported through the mitochondrial membranes by translocators. The translocase of the outer membrane (Tom) is the universal entry gate for all proteins that are imported into mitochondria.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Objective: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP).

Methods: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis.

Vascular malformation of the glans penis successfully treated with Nd:YAG laser.

Penile venous malformations are uncommon and those located on the glans are even rarer. Treatment of venous malformations of the glans is currently controversial. Neodynium (Nd):YAG laser treatment may be a useful option.

The brachial plexus branches to the pectoral muscles in adult rats: morphological aspects and morphometric normative data.

Animal models provide an important tool to investigate the pathogenesis of neuromuscular disorders. In the present study, we analyze fiber composition of the brachial plexus branches to the pectoral muscles: the medial anterior thoracic nerve (MATN) and the lateral anterior thoracic nerve (LATN). The morphological and morphometric characteristics and the percentage of motor fibers within each nerve are here reported, adding information to microscopic anatomy knowledge of the rat brachial plexus.

Otolithic membrane damage in patients with endolymphatic hydrops and drop attacks.

Objectives: 1. Evaluate the otolithic membrane in patients with endolymphatic hydrops (EH) and vestibular drop attacks (VDA) undergoing ablative labyrinthectomy. 2.