A rare variant in MYH6 is associated with high risk of sick sinus syndrome

Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10?2?. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.     

Quantitative estimation of dust fall and smoke particles in Quetta Valley

Tightening of air quality standards for populated urban areas has led to increasing attention to assessment of air quality management areas, where violation of air quality standards occurs, and development of control strategies to eliminate such violation of air quality standards. The Quetta urban area is very densely built and has heavy motorized traffic. The increase of emissions mainly from traffic and industry are responsible for the increase in atmospheric pollution levels during the last years. The dust examined in the current study was collected by both deposit gauge and Petri dish methods at various sites of Quetta Valley. Smoke particles were obtained by bladder method from the exhausts of various types of motor vehicles. The concentration of lead found in the smoke ranged from 1.5×10⁻⁶ to 4.5×10⁻⁶.     

Structural and dielectric properties of doped ferrite nanomaterials suitable for microwave and biomedical applications

The sol–gel auto-combustion method was adopted to synthesize nanomaterials of single-phase X-type hexagonal ferrites with the composition of Sr2?xGdxNi2Fe28?yCdyO46 (x=0.00, 0.02, 0.04, 0.06, 0.08, 0.10 and y=0, 0.1, 0.2, 0.3, 0.4, 0.5). The structural properties were carried out by XRD analysis and the lattice parameters show variation with the doping of Gd–Cd. The average particle size measured by TEM was in the range of 8–10 nm which is beneficial in obtaining suitable signal-to-noise ratio in recording media and biomedical applications. The room temperature resistivity enhanced with the increase of the dopant concentration. The increase in resistivity indicates that the synthesized materials can be considered good for the formation of the multilayer chip inductors (MLCIs) as well as for the reduction of eddy current losses. The dielectric constant decreased with the increase in the frequency which is the general reported trend of the hexagonal ferrites and can be explained on the basis of Koop?s theory and Maxwell–Wagner polarization-model. The abnormal dielectric behavior indicates the formation of small polarons in the material. The maximum value of tangent loss at low frequencies reflects the application of these materials in medium frequency devices (MF).     

Effect of temperature and pH value on cation exchange performance of a natural clay for selective (Cu2t, Co2t) removal: Equilibrium, sorption and kinetics

This work aims at investigating the strain effect,created by varying pH solution and continuous heating cycle,on the cation exchange process in the case of Na-rich montmorillonite sample in contact with bi-ionic solution with variable concentration,saturated respectively by Co2+ and Cu2+ cations.The ionic exchange process is characterized using XRD analysis obtained through the comparison of experimental XRD patterns with calculated ones,which allowed us to determine several structural parameters related to the nature,abundance,size,position and organization of exchangeable cation and water molecule in the interlamellar space along the caxis.Indeed,the proposed theoretical models,for the stressed samples,show that the structure presents an interstratified hydration character and proves the coexistence of more than two ’’crystallite’’ specie in the structure.The perturbation types have an obvious effect on the selective exchange process for all stressed samples,where the interlayer space is characterized by the coexistence of more one exchangeable cation.     

Structural,morphological, Raman,optical, magnetic,and antibacterial characteristics of CeO<Subscript>2</Subscript> nanostructures

In this study, CeO₂ nanostructures were synthesized by a soft chemical method. A hydrothermal treatment was observed to lead to an interesting morphological transformation of the nanoparticles into homogeneous microspheres composed of nanosheets with an average thickness of 40 nm. Structural analysis revealed the formation of a single-phase cubic fluorite structure of CeO₂ for both samples. A Raman spectroscopic study confirmed the XRD results and furthermore indicated the presence of a large number of oxygen vacancies in the nanosheets. These oxygen vacancies led to room-temperature ferromagnetism (RTFM) of the CeO₂ nanosheets with enhanced magnetic characteristics. Amazingly, the nanosheets exhibited substantially greater antibacterial activity than the nanoparticles. This greater antibacterial activity was attributed to greater exposure of high-surface-energy polar surfaces and to the presence of oxygen vacancies.     

Liquid-phase aerobic oxidation of benzyl alcohol catalyzed by mechanochemically synthesized manganese oxide

Benzyl alcohol oxidation by molecular oxygen using solid manganese oxide as a catalyst and n-heptane as the solvent was studied in the liquid phase. The catalyst was synthesized by a simple mechanochemical process at room temperature and was characterized by different physical methods. The catalyst was highly active and 100% selective for benzyl alcohol conversion to benzaldehyde. The solid catalyst can be recovered from the reaction mixture by simple filtration and can be re-used. We found n-heptane to be an excellent solvent for the oxidation reaction, and that the catalyst did not leach into solution.     

A single-step synthesis of nitrogen-doped graphene sheets decorated withcobalt hydroxide nanoflakes for the determination of dopamine

Nitrogen-doped reduced graphene oxide(NrGO)sheets decorated with Co(OH)_2nanoflakes were prepared by a single-step hydrothermal process.The morphological and structural characterizations of as synthesized Nr GO@Co(OH)_2nanoflakes were performed by field emission scanning electron microscopy(FESEM),EDX-mapping and X-ray diffraction(XRD).Nr GO@Co(OH)_2nanoflakes modified glassy carbon electrode(GCE)was used for electrochemical sensing of dopamine in neutral medium.The nanocomposite modified electrode showed enhanced electrochemical sensing ability for the detection of dopamine and the limit of detection(Lo D)was found to be 0.201μM with a sensitivity value of 0.0286±0.002 m A m M~(-1).Interference studies revealed that Nr GO@Co(OH)_2─GCE endow excellent selectivity for DA detection even in the presence of higher concentration of common co-existing physiological interfering analytes.Additionally,proposed sensor demonstrated excellent performance in urine samples with promising reproducibility and stability.     

HDI/癸二酸二辛酯二元体系气液平衡数据的测定及关联

采用准静态方法测定了368.75~423.00 K温度范围内1,6-己二异氰酸酯（HDI）单组分的饱和蒸汽压,以及HDI与癸二酸二辛酯（DOS）在369.81~424.55 K温度范围内的气液相平衡数据。借助Aspen Plus软件对实验数据进行回归,得到了溶液理论中非随即（局部）双液体（NRTL）模型方程、Wilson模型参数及关联偏差,结果表明,两种模型拟合得到的温度平均绝对偏差均小于1.55 K。进而计算了二元组分相对挥发度,发现HDI与DOS在0.300~0.900 kPa范围内存在最高共沸现象,共沸物中HDI的摩尔分数为0.105~0.112。因此,在HDI精制分离时,循环溶剂中会携带10%左右的HDI。     

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only rarely been reported. To identify a gene involved in controlling hair texture, we performed genetic linkage analysis in six families of Pakistani origin with autosomal recessive woolly hair (ARWH; OMIM 278150). All six families showed linkage to chromosome 13q14.2-14.3 (Z = 17.97). In all cases, we discovered pathogenic mutations in P2RY5, which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 (RB1) gene. P2RY5 is expressed in both Henle's and Huxley's layers of the inner root sheath of the hair follicle. Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans.