Dominant modifier DFNM1 suppresses recessive deafness DFNB26

More than 50% of severe childhood deafness is genetically determined, approximately 70% of which occurs without other abnormalities and is thus termed nonsyndromic. So far, 30 nonsyndromic recessive deafness loci have been mapped and the defective genes at 6 loci, DFNB1, DFNB2, DFNB3, DFNB4, DFNB9 and DNFB21, have been identified, encoding connexin-26 (ref. 3), myosin VIIA (ref. 4), myosin XV (ref. 5), pendrin, otoferlin and alpha-tectorin, respectively. Here we map a new recessive nonsyndromic deafness locus, DFNB26, to a 1.5-cM interval of chromosome 4q31 in a consanguineous Pakistani family. A maximum lod score of 8.10 at theta=0 was obtained with D4S1610 when only the 8 affected individuals in this family were included in the calculation. There are seven unaffected family members who are also homozygous for the DFNB26-linked haplotype and thus are non-penetrant. A dominant modifier, DFNM1, that suppresses deafness in the 7 nonpenetrant individuals was mapped to a 5.6-cM region on chromosome 1q24 with a lod score of 4.31 at theta=0 for D1S2815.     

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12 mutations in affected individuals and two in controls (P = 0.0047). The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an estimated relative risk of 2.37 (95% confidence interval (c.i.) = 1.51-3.78, P = 0.0003). There was no evidence that other classes of ATM variant confer a risk of breast cancer.     

Different marrow cell number requirements for the haemopoietic colony formation and the cure of the W/Wv anemia

Summary The lowest cell number in the normal marrow transplant, which allows the cure of W/W^v anemia was found to be between 10⁴ and 10⁵. This exceeds by several times the lowest cell number necessary for the haemopoietic colony formation. Therefore, either the colony forming cell is not the haemopoietic stem cell but rather its progeny, or this cell requires an aid from some other cells to exert its activity.Acknowledgments. We are indebted to Doc. Dr Maksymilian Siekierzynski for his help and advice and to Miss Elzbieta Szewczyk for expert technical assistance.     

Neural Network Based Model for Predicting Housing Market Performance

The United States real estate market is currently facing its worst hit in two decades due to the slowdown of housing sales. The most affected by this decline are real estate investors and home developers who are currently struggling to break-even financially on their investments. For these investors, it is of utmost importance to evaluate the current status of the market and predict its performance over the shortterm in order to make appropriate financial decisions. This paper presents the development of artificial neural network based models to support real estate investors and home developers in this critical task. The paper describes the decision variables, design methodology, and the implementation of these models. The models utilize historical market performance data sets to train the artificial neural networks in order to predict unforeseen future performances. An application example is analyzed to demonstrate the model capabili-ties in analyzing and predicting the market performance. The model testing and validation showed that the error in prediction is in the range between -2% and +2%.     

太阳活动峰年和谷年期间黑子群与耀斑的统计分析

基于NOAA/SWPC公布的太阳活动数据,我们选取第24太阳活动峰年附近的12个连续月份(2011年7月至2012年6月)和第23太阳活动周谷年附近的12个连续月份(2005年7月至2006年6月),统计了这两段时间中太阳黑子群和耀斑的活动规律,并根据时间、黑子群分布纬度、寿命和磁场类型等对峰年和谷年进行了详细分析和比较,主要结论如下所述.(1)黑子群数随时间的变化在峰年和谷年均比较随机,峰年期间黑子数比谷年增多1.5倍左右.耀斑爆发与黑子群活动具有良好的相关性,但峰年期间存在某个月份耀斑数很少的现象,而谷年期间存在某个月份耀斑数集中增多的现象.(2)无论峰年还是谷年,δ类型黑子群的耀斑产率(耀斑总数与黑子群总数之比)最大,但β型黑子群产生的耀斑爆发最多.耀斑产率与磁场类型有密切关系,但与其所处太阳活动周中的阶段无关.(3)黑子群和耀斑的纬度分布的南北不对称性,以X级耀斑最为显著.峰年较谷年的耀斑数增加主要集中在C级和M级.(4)耀斑产率同黑子群寿命具有良好的相关性,但黑子群的数目同它们的寿命之间没有明显的规律.     

Replacement of alkali silicate solution with silica fume in metakaolin-based geopolymers

A metakaolin(Mk)-based geopolymer cement from Tunisian Mk mixed with different amounts of silica fume(SiO_2/Al_2O_3 molar ratio varying between 3.61 and 4.09) and sodium hydroxide(10M) and without any alkali silicate solution, is developed in this work. After the samples were cured at room temperature under air for 28 d, they were analyzed by X-ray diffraction(XRD), Fourier transform infrared(FTIR) spectroscopy, environmental scanning electron microscopy, mercury intrusion porosimetry, ~(27)Al and ~(29)Si nuclear magnetic resonance(NMR) spectroscopy, and compression testing to establish the relationship between microstructure and compressive strength. The XRD, FTIR, and ~(27)Al and ~(29)Si NMR analyses showed that the use of silica fume instead of alkali silicate solutions was feasible for manufacturing geopolymer cement. The Mk-based geopolymer with a silica fume content of 6 wt%(compared with those with 2% and 10%), corresponding to an SiO_2/Al_2O_3 molar ratio of 3.84, resulted in the highest compressive strength, which was explained on the basis of its high compactness with the smallest porosity. Silica fume improved the compressive strength by filling interstitial voids of the microstructure because of its fine particle size. In addition, an increase in the SiO_2/Al_2O_3 molar ratio, which is controlled by the addition of silica fume, to 4.09 led to a geopolymer with low compressive strength, accompanied by microstructures with high porosity. This high porosity, which is responsible for weaknesses in the specimen, is related to the amount of unreacted silica fume.     

Phase analysis of AlFe2B2 by synchrotron X-ray diffraction, magnetic and Mössbauer studies

The structural and magnetic properties of essentially phase pure AlFe_2B_2 prepared by arc melting were compared with a sample containing impurities. Analysis was carried out by means of synchrotron X-ray diffraction, magnetic measurements and M?ssbauer spectroscopy. The analysis of synchrotron X-ray diffraction data confirmed the orthorhombic structure of space group Cmmm for AlFe_2B_2 with Al_(13)Fe_4 as main impurity phase. The magnetic measurements revealed an unsaturated ferromagnetic state in AlFe_2B_2 with a transition temperature(T_c) of 286 K. Isothermal magnetization measurment at 5 K gave a saturation magnetization of 0.7 μB per Fe atom while Arrott plots establish the second order nature of ferromagnetic transition. The thermal evolution of M?ssbauer spectra confirmed the ferromagnetic nature of this material revealing an hyperfine field of 73 kOe and an isomer shift of 0.46 mm/s at 100 K. The M?ssbauer spectra of a phase pure sample was compared with the one containing impurity phases. It is suggested that the low temperature paramagnetic contribution in M?ssbauer spectra of phase pure material may have its origin in some intrinsic phenomena arising from defects or inhomogeneities in crystal structure.     

Aquatic Coleoptera from Pakistan: faunistic and zoogeographical contribution (Coleoptera: Gyrinidae: Dytiscidae: Hydrophilidae)

Records of 19 species and one subspecies of water beetles of four families: Gyrinidae (two species), Dytiscidae (seven species), Hydrophilidae (10 species), and Spercheidae (one subspecies) from Pakistan are listed, based on collected material. Four genera and 10 species are recorded from Pakistan for the first time. The newly recorded genera are: Patrus, Helochares, Sternolophus and Coelostoma. The newly recorded species are: Dineutus spinosus (Fabricius, 1781), Patrus haemorrhous (Régimbart, 1891), Copelatus freudei Guignot, 1955, Copelatus sp1, Copelatus sp2, Enochrus ater (Kuwert, 1888), Helochares anchoralis Sharp, 1890, Sternolophus rufipes (Fabricius, 1792), Paracymus aeneus (Germar, 1824) and Coelostoma stultum (Walker, 1858). Zoogeographic affinities of the recorded species are discussed. According to their current distribution, the 18 species known from Pakistan can be classified into five zoogeographical categories.     

Modeling and optimization of cyclic hoist schedules in an electroplating line

This paper deals with the modeling, analysis and optimization of a specific kind of real industrial problems. This class of problems is known in the literature as Cyclic Hoist Scheduling Problem (CHSP). In such class of problems, several jobs have to flow through a production line according to an ordered bath sequence. The CHSPs appear in the manufacturing facilities to achieve a mass production and to search a repetitive sequence of moves for the hoist. In this paper, we develop P-Temporal Petri Net models to represent the behavior and validate certain qualitative properties of the basic production line. Afterward, complex configurations of the production line are modeled and their properties such as reachability of desired functioning (cyclic operation), deadlock-free, resource sharing and management are checked and validated. A mathematical analysis and a simulation study of all proposed Petri net models are carried out using mathematical fundaments of Petri nets and a Visual Object Net ++ tool. The second part of the paper deals with the development of a mixed integer linear programming models to optimize processing of each line configuration. Optimal manufacturing plans of the studied system with cyclic processing sequences are defined and the feasibility of optimal cyclic scheduling of each configuration is proved.