A Turkish family with Nance-Horan syndrome due to a novel mutation

Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. We describe two brothers who have the NHS phenotype and their carrier mother who had microcornea but not cataract. We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). We also discussed genotype–phenotype correlation according to relevant literature.     

Molecular Co-occupancy Identifies Transcription Factor Binding Cooperativity In Vivo

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In vitro plant regeneration derived from leaf and stem explants of endemic Thermopsis turcica

This plant tissue study of micropropagation identifies the selective medium saving for rapid propagation in cultivated Thermopsis turcica, an endangered germplasm of the family Fabaceae. The aim is to obtain the optimum growth medium of T. turcica by enabling the in vitro propagation of this endemic. In this study, the leaves and stems of T. turcica were cultured on a Murashige and Skoog’s medium supplemented with various concentrations (0.5, 1.0 and 2.0 mg L^?1 1-Naphthaleneacetic acid) of auxin and (0.2 and 0.5 mg L^?1 Zeatin) (1.0 and 2.0 mg L^?1 Benzylaminopurine) of cytokinins. Previous research focused on the regeneration from the seed of T. turcica Eber population; we concentrated upon the regeneration of different plant parts (leaf and stem) of T. turcica Aksehir population. In addition, according to the literature on T. turcica that to date the effects of Zeatin on the regeneration has not been performed. The most promising regeneration and growth were obtained from leaf explants cultured on the media with 2.0 mg L^?1 1-Naphthaleneacetic acid and 0.5 mg L^?1Zeatin (93.3%). The regenerated plantles were rooted on the media containing 2.0 mg L^?1 Indole-3-butyric acid. Rooted plantlets were transplanted into potting of sterilized soil. The present study reports on the sufficient in vitro regeneration protocol through organogenesis in T. turcica. The findings presented here have implications for in vitro protection and use of this endemic endangered species in further biotechnological research.     

Comparison of Conventional versus Steerable-Catheter Guided Coronary Sinus Lead Positioning in Patients Undergoing Cardiac Resynchronization Device Implantation

Objectives

The aim of this study was to compare conventional versus steerable catheter guided coronary sinus (CS) cannulation in patients with advanced heart failure undergoing cardiac resynchronization therapy (CRT).

Background

Steerable catheter guided coronary sinus cannulation could reduce fluoroscopy time and contrast medium use during CRT implantation.

Methods

176 consecutive patients with ischemic and non-ischemic heart failure undergoing CRT implantation from January 2008 to December 2012 at the University Hospital of Cologne were identified. During the study period two concurrent CS cannulation techniques were used: standard CS cannulation technique (standard-group, n = 113) and CS cannulation using a steerable electrophysiology (EP) catheter (EPCath-group, n = 63). Propensity-score matched pairs of conventional and EP-catheter guided CS cannulation made up the study population (n = 59 pairs). Primary endpoints were total fluoroscopy time and contrast medium amount used during procedure.

Results

The total fluoroscopy time was 30.9 min (interquartile range (IQR), 19.9–44.0 min) in the standard-group and 23.4 min (IQR, 14.2-34-2 min) in the EPCath-group (p = 0.011). More contrast medium was used in the standard-group (60.0 ml, IQR, 30.0–100 ml) compared to 25.0 ml (IQR, 20.0–50.0 ml) in the EPCath-group (P<0.001).

Conclusions

Use of steerable EP catheter was associated with significant reduction of fluoroscopy time and contrast medium use in patients undergoing CRT implantation.     

Cytotoxic and genotoxic effects of dioxacarb by human peripheral blood lymphocytes CAs and Allium test

Dioxacarb (Elecron, Famid) is a phenyl methylcarbamate insecticide and in vitro cytotoxic and genotoxic effects of this pesticide on human peripheral blood lymphocytes and Allium root meristematic cells were investigated by chromosomal aberrations (CAs) and Allium test. Human lymphocytes were treated with 62.5, 125, 250 and 500 ppm doses of dioxacarb for CAs. CA/cell, abnormal cell % and mitotic index % (MI %) data were obtained from these concentrations in 24 and 48 h treatment periods. Dioxacarb did not increase the CA/cell frequency significantly, so this insecticide was not identified as genotoxic. But it was found cytotoxic especially at 250 and 500 ppm concentrations because of the reduced the MI % and increased the abnormal cell %. In Allium test, 25 ppm (EC50/2), 50 ppm (EC50) and 100 ppm (EC50 × 2) concentrations were used for root growth inhibition (EC50 determination) and Allium mitotic index (MI) determination tests. The used concentrations of dioxacarb induced dose-dependent inhibition of MI and root growth on root meristems. Mitotic inhibition of dioxacarb was found significantly higher than for the positive control. These Allium results indicated the high cytotoxicity of dioxacarb. The present study is the first research on cytotoxicity and genotoxicity of dioxacarb by human lymphocyte CAs and Allium test.     

The investigation of therapeutic potential of oxytocin and liraglutide on vincristine‐induced neuropathy in rats

The aim of this study was to assess the therapeutic potential of oxytocin and liraglutide (LIR), a GLP‐1 analogue, in a rat model of vincristine‐induced neuropathy. Rats were injected with vincristine (VCR) at a dose of 4 mg/kg twice a week for 5 weeks. The VCR‐administered rats were divided into three groups and received saline, oxytocin, or liraglutide simultaneously with VCR. After the treatment period, electrophysiological, biochemical, histological, and immunohistochemical investigations were performed. Electromyography (EMG) recordings demonstrated significant alterations in the VCR + saline group (p < .001). Also, motor performance was decreased in the VCR + saline group (p < .05). Histologically, the axonal diameter was decreased in all groups. VCR + saline group showed significantly increased lipid peroxidation and decreased nerve growth factor (NGF) expression. However, the administration of oxytocin and liraglutide significantly prevented the EMG alterations, lipid peroxidation, and reduction in neuronal NGF expression. On the basis of these findings, oxytocin and liraglutide may be considered as potential agents for the prevention of VCR‐induced neuropathy.