1,069 research outputs found
Controlling the morphology and outgrowth of nerve and neuroglial cells: The effect of surface topography
Unlike other tissue types, like epithelial tissue, which consist of cells
with a much more homogeneous structure and function, the nervous tissue spans
in a complex multilayer environment whose topographical features display a
large spectrum of morphologies and size scales. Traditional cell cultures,
which are based on two-dimensional cell-adhesive culture dishes or coverslips,
are lacking topographical cues and mainly simulate the biochemical
microenvironment of the cells. With the emergence of micro- and
nano-fabrication techniques new types of cell culture platforms are developed,
where the effect of various topographical cues on cellular morphology,
proliferation and differentiation, can be studied. Different approaches
(regarding the material, fabrication technique, topographical charactertistics,
etc.) have been implemented. The present review paper aims at reviewing the
existing body of literature on the use of artificial micro- and
nano-topographical features to control neuronal morphology, outgrowth and
neural network topology. The cell responses from phenomenology to investigation
of the underlying mechanisms- on the different topographies, including both
deterministic and random ones, are summarized
Recent Progress of RF Cavity Study at Mucool Test Area
In order to develop an RF cavity that is applicable for a muon beam cooling
channel, a new facility, called Mucool Test Area (MTA) has been built at
Fermilab. MTA is a unique facility whose purpose is to test RF cavities in
various conditions. There are 201 and 805 MHz high power sources, a 4-Tesla
solenoid magnet, a cryogenic system including a Helium liquifier, an explosion
proof apparatus to operate gaseous/liquid Hydrogen, and a beam transport line
to send an intense H- beam from the Fermilab Linac accelerator to the MTA hall.
Recent activities at MTA will be discussed in this document.Comment: 4 pp. 13th International Workshop on Neutrino Factories, Superbeams
and Beta beams (NuFact11) 1-6 Aug 2011: Geneva, Switzerlan
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Bone mineral density in patients with inherited bone marrow failure syndromes.
BackgroundPatients with inherited bone marrow failure syndromes (IBMFS) may have several risk factors for low bone mineral density (BMD). We aimed to evaluate the prevalence of low BMD in IBMFS and determine the associated risk factors.MethodsPatients with IBMFS with at least one dual-energy X-ray absorptiometry (DXA) scan were evaluated. Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome was confirmed by syndrome-specific tests. Data were gathered on age, height, and clinical history. DXA scans were completed at the lumbar spine, femoral neck, and forearm. BMD was adjusted for height (HAZ) in children (age ≤20 years). Low BMD was defined as a BMD Z-score and HAZ ≤-2 in adults and children, respectively, in addition to patients currently on bisphosphonate therapy.ResultsNine of thirty-five adults (26%) and eleven of forty children (27%) had low BMD. Adults with FA had significantly lower BMD Z-scores than those with other diagnoses; however, HAZ did not vary significantly in children by diagnosis. Risk factors included hypogonadism, iron overload, and glucocorticoid use.ConclusionsAdults and children with IBMFS have high prevalence of low BMD. Prompt recognition of risk factors and management are essential to optimize bone health
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ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.
Background We recently found that ARMC 5 variants may be associated with primary aldosteronism in blacks. We investigated a cohort from the MH - GRID (Minority Health Genomics and Translational Research Bio-Repository Database) and tested the association between ARMC 5 variants and blood pressure in black s. Methods and Results Whole exome sequencing data of 1377 black s were analyzed. Target single-variant and gene-based association analyses of hypertension were performed for ARMC 5, and replicated in a subset of 3015 individuals of African descent from the UK Biobank cohort. Sixteen rare variants were significantly associated with hypertension ( P=0.0402) in the gene-based (optimized sequenced kernel association test) analysis; the 16 and one other, rs116201073, together, showed a strong association ( P=0.0003) with blood pressure in this data set. The presence of the rs116201073 variant was associated with lower blood pressure. We then used human embryonic kidney 293 and adrenocortical H295R cells transfected with an ARMC 5 construct containing rs116201073 (c.*920T>C). The latter was common in both the discovery ( MH - GRID ) and replication ( UK Biobank) data and reached statistical significance ( P=0.044 [odds ratio, 0.7] and P=0.007 [odds ratio, 0.76], respectively). The allele carrying rs116201073 increased levels of ARMC5 mRNA , consistent with its protective effect in the epidemiological data. Conclusions ARMC 5 shows an association with hypertension in black s when rare variants within the gene are considered. We also identified a protective variant of the ARMC 5 gene with an effect on ARMC 5 expression confirmed in vitro. These results extend our previous report of ARMC 5's possible involvement in the determination of blood pressure in blacks
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Aortic pulse wave velocity in children with Cushing syndrome: A window into a marker of early cardiovascular disease.
ObjectiveTo investigate early signs of cardiovascular arterial remodelling in paediatric patients with Cushing syndrome (CS) in comparison with normative values from healthy children.Study designThe metrics used to assess cardiac health were from thoracic aorta and carotid MRI. Scans were performed on 18 children with CS (mean: 12.5 ± 3.1 years, range: 6.0-16.8 years, 10 female). Pulse wave velocity (PWV), aortic distensibility (AD) and carotid intima-media thickness (cIMT), well-validated measurements of cardiac compromise, were measured from the images and compared to normative age-matched values where available.ResultsPatients with CS had significantly higher PWV compared to age-adjusted normal median control values (4.0 ± 0.7 m/s vs. 3.4 ± 0.2 m/s, respectively, P = 0.0115). PWV was positively correlated with midnight plasma cortisol (r = 0.56, P = 0.02). Internal and common cIMT were negatively correlated with ascending AD (r = -0.75, P = 0.0022, r = -0.69, P = 0.0068, respectively).ConclusionPulse wave velocity data indicate that paediatric patients with CS have early evidence of cardiovascular remodelling. The results suggest the opportunity for monitoring as these changes begin in childhood
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.
UnlabelledAutosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished response to aldosterone. Patients may present with life-threatening hyperkalemia, which must be recognized and appropriately treated. A 32-year-old female was referred to the National Institutes of Health (NIH) for evaluation of hyperkalemia and muscle pain. Her condition started in the second week of life, when she was brought to an outside hospital lethargic and unresponsive. At that time, she was hypovolemic, hyperkalemic and acidotic, and was eventually treated with sodium bicarbonate and potassium chelation. At the time of the presentation to the NIH, her laboratory evaluation revealed serum potassium 5.1 mmol/l (reference range: 3.4-5.1 mmol/l), aldosterone 2800 ng/dl (reference range: ≤21 ng/dl) and plasma renin activity 90 ng/ml/h (reference range: 0.6-4.3 ng/ml per h). Diagnosis of PHA1 was suspected. Sequencing of the SCNN1B gene, which codes for ENaC, revealed that the patient is a compound heterozygote for two novel variants (c.1288delC and c.1466+1 G>A), confirming the suspected diagnosis of PHA1. In conclusion, we report a patient with novel variants of the SCNN1B gene causing PHA1 with persistent, symptomatic hyperkalemia.Learning pointsPHA1 is a rare genetic condition, causing functional abnormalities of the amiloride-sensitive ENaC.PHA1 was caused by previously unreported SCNN1B gene mutations (c.1288delC and c.1466+1 G>A).Early recognition of this condition and adherence to symptomatic therapy is important, as the electrolyte abnormalities found may lead to severe dehydration, cardiac arrhythmias and even death.High doses of sodium polystyrene sulfonate, sodium chloride and sodium bicarbonate are required for symptomatic treatment
Post-melting encapsulation of glass microwires for multipath light waveguiding within phosphate glasses
Glass waveguides remain the fundamental component of advanced photonic
circuits and with a significant role in other applications such as quantum
information processing, light generation, imaging, data storage, and sensing
platforms. Up to date, the fabrication of glass waveguides relies mainly on
demanding chemical processes or on the employment of expensive ultrafast laser
equipment. In this work, we demonstrate the feasibility of a simple,
low-temperature, post-melting encapsulation procedure for the development of
advanced glass waveguides. Namely, silver iodide phosphate glass microwires
(MWs) are drawn from typical splat-quenched samples. Following this, the MWs
are incorporated in a controlled manner within previously prepared transparent
silver phosphate glass rectangular prisms. The composition of the employed
glasses is chosen so that the host phosphate glass has a lower refractive index
than the embedded MWs. In such case, the waveguide mechanism relies on the
propagation of light inside the encapsulated higher refractive index MWs.
Moreover, the presence of silver nanoparticles within the MWs enhances the
light transmission due to scattering effects. Waveguide devices with either one
or two incorporated MWs were fabricated. Remarkably, in the latter case, the
transmission of light of different colors and in multipath direction is
possible, rendering the developed waveguides outstanding candidates for various
photonic circuits, optoelectronic, and smart sign glass applications
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