Amyotrophic lateral sclerosis genetic studies: from genome-wide association mapping to genome sequencing

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed

Suppression of field-induced spin density wave order in Sr_{3}Ru_{2}O_{7} with pressure

Measuring the resistivity of high-purity single crystals of Sr_{3}Ru_{2}O_{7} under pressure, we find strong evidence that the field-induced spin density wave phase at the H ∥ c metamagnetic transition is suppressed at a surprisingly low pressure of ∼ 3 ± 1 kbar. This offers the possibility of studying a bare quasi-two-dimensional spin density wave quantum critical point, testing the T → 0 K limit of theories of Planckian dissipation and quantum criticality. Preliminary attempts to fit ρ(T) with a quantum critical spin fluctuation model, while encouraging, reveal a need for further, complementary measurements

Isolation of a wide range of minerals from a thermally treated plant: Equisetum arvense, a Mare’s tale

Silica is the second most abundant biomineral being exceeded in nature only by biogenic CaCO3. Many land plants (such as rice, cereals, cucumber, etc.) deposit silica in significant amounts to reinforce their tissues and as a systematic response to pathogen attack. One of the most ancient species of living vascular plants, Equisetum arvense is also able to take up and accumulate silica in all parts of the plant. Numerous methods have been developed for elimination of the organic material and/or metal ions present in plant material to isolate biogenic silica. However, depending on the chemical and/or physical treatment applied to branch or stem from Equisetum arvense; other mineral forms such glass-type materials (i.e. CaSiO3), salts (i.e. KCl) or luminescent materials can also be isolated from the plant material. In the current contribution, we show the chemical and/or thermal routes that lead to the formation of a number of different mineral types in addition to biogenic silica

Research-based versus clinical serum creatinine measurements and the association of acute kidney injury with subsequent kidney function: findings from the Chronic Renal Insufficiency Cohort study.

Background:Observational studies relying on clinically obtained data have shown that acute kidney injury (AKI) is linked to accelerated chronic kidney disease (CKD) progression. However, prior reports lacked uniform collection of important confounders such as proteinuria and pre-AKI kidney function trajectory, and may be susceptible to ascertainment bias, as patients may be more likely to undergo kidney function testing after AKI. Methods:We studied 444 adults with CKD who participated in the prospective Chronic Renal Insufficiency Cohort (CRIC) Study and were concurrent members of a large integrated healthcare delivery system. We estimated glomerular filtration rate (eGFR) trajectories using serum creatinine measurements from (i) the CRIC research protocol (yearly) and (ii) routine clinical care. We used linear mixed effects models to evaluate the associations of AKI with acute absolute change in eGFR and post-AKI eGFR slope, and explored whether these varied by source of creatinine results. Models were adjusted for demographic characteristics, diabetes status and albuminuria. Results:During median follow-up of 8.5 years, mean rate of eGFR loss was -0.31 mL/min/1.73 m2/year overall, and 73 individuals experienced AKI (55% Stage 1). A significant interaction existed between AKI and source of serum creatinine for acute absolute change in eGFR level after discharge; in contrast, AKI was independently associated with a faster rate of eGFR decline (mean additional loss of -0.67 mL/min/1.73 m2/year), which was not impacted by source of serum creatinine. Conclusions:AKI is independently associated with subsequent steeper eGFR decline regardless of the serum creatinine source used, but the strength of association is smaller than observed in prior studies after taking into account key confounders such as pre-AKI eGFR slope and albuminuria

Crystal structure, electronic, and magnetic properties of the bilayered rhodium oxide Sr3Rh2O7

The bilayered rhodium oxide Sr3Rh2O7 was synthesized by high-pressure and high-temperature heating techniques. The single-phase polycrystalline sample of Sr3Rh2O7 was characterized by measurements of magnetic susceptibility, electrical resistivity, specific heat, and thermopower. The structural characteristics were investigated by powder neutron diffraction study. The rhodium oxide Sr3Rh2O7 [Bbcb, a = 5.4744(8) A, b = 5.4716(9) A, c = 20.875(2) A] is isostructural to the metamagnetic metal Sr3Ru2O7, with five 4d electrons per Rh, which is electronically equivalent to the hypothetic bilayered ruthenium oxide, where one electron per Ru is doped into the Ru-327 unit. The present data show the rhodium oxide Sr3Rh2O7 to be metallic with enhanced paramagnetism, similar to Sr3Ru2O7. However, neither manifest contributions from spin fluctuations nor any traces of a metamagnetic transition were found within the studied range from 2 K to 390 K below 70 kOe.Comment: To be published in PR

Preparing the family and children for surgery

The focus of this literature analysis is the concept of preparing the family and children for surgery. As posited in the literature, surgery causes stress and anxiety that have a negative impact on both parents and their children. Therefore, the need for health care professionals to facilitate positive preparation for surgery to minimize anxiety and enhance postoperative recovery is important. Preparing the family and children for surgery is discussed in depth under the following themes: Preoperative Anxiety in Children, the Impact of Preoperative Anxiety on the Pediatric Patients and Parents, Preoperative Psychological Preparation for Children and Parents, and the Role of Nurse Practitioners in Preoperative Preparation. Through reviewing the literature, it would appear that some areas of preparation for parents are not as sufficient as they could be, particularly with regard to adequate preoperative education programs. The majority of studies reported that therapeutic play and clown interventions used for psychological preparation of parents and their children have been effective in minimizing and decreasing anxiety levels

Specific requirements of MRFs for the expression of muscle specific microRNAs, miR-1, miR-206 and miR-133

The expression of three microRNAs, miR-1, miR-206 and miR-133 is restricted to skeletal myoblasts and cardiac tissue during embryo development and muscle cell differentiation, which suggests a regulation by muscle regulatory factors (MRFs). Here we show that inhibition of C2C12 muscle cell differentiation by FGFs, which interferes with the activity of MRFs, suppressed the expression of miR-1, miR-206 and miR-133. To further investigate the role of myogenic regulators (MRFs), Myf5, MyoD, Myogenin and MRF4 in the regulation of muscle specific microRNAs we performed gain and loss-of-function experiments in vivo, in chicken and mouse embryos. We found that directed expression of MRFs in the neural tube of chicken embryos induced ectopic expression of miR-1 and miR-206. Conversely, the lack of Myf5 but not of MyoD resulted in a loss of miR-1 and miR-206 expression. Taken together our results demonstrate differential requirements of distinct MRFs for the induction of microRNA gene expression during skeletal myogenesis

The effects of water and microstructure on the performance of polymer electrolyte fuel cells

n this paper, we present a comprehensive non-isothermal, one-dimensional model of the cathode side of a Polymer Electrolyte Fuel Cell. We explicitly include the catalyst layer, gas diffusion layer and the membrane. The catalyst layer and gas diffusion layer are characterized by several measurable microstructural parameters. We model all three phases of water, with a view to capturing the effect that each has on the performance of the cell. A comparison with experiment is presented, demonstrating excellent agreement, particularly with regard to the effects of water activity in the channels and how it impacts flooding and membrane hydration. We present several results pertaining to the effects of water on the current density (or cell voltage), demonstrating the role of micro-structure, liquid water removal from the channel, water activity, membrane and gas diffusion layer thickness and channel temperature. These results provide an indication of the changes that are required to achieve optimal performance through improved water management and MEA-component design. Moreover, with its level of detail, the model we develop forms an excellent basis for a multi-dimensional model of the entire membrane electrode assembly