No abstract

Autosomal primary microcephaly (MCPH) is a heterogenetic disorder that affects brain's cerebral cortex size and leads to a reduction in the cranial vault. Along with the hallmark feature of reduced head circumference, microcephalic patients also exhibit a variable degree of intellectual disability as well. Genetic studies have reported 28 MCPH genes, most of which produce microtubuleassociated proteins and are involved in cell division. Herein this study, 14 patients from seven Pashtun origin Pakistani families of primary microcephaly were analyzed. Mutation analysis was performed through targeted Sanger DNA sequencing on the basis of phenotype-linked genetic makeup. Genetic analysis in one family found a novel pathogenic DNA change in the abnormal spindle microtubule assembly (ASPM) gene (NM_018136.4:c.3871dupGA), while the rest of the families revealed recurrent nonsense mutation c.3978G>A (p.Trp1326*) in the same gene. The novel reported frameshift insertion presumably truncates the protein p.(Lys1291Glyfs*14) and deletes the N-terminus domains. Identification of novel ASPM-truncating mutation expands the mutational spectrum of the ASPM gene, while mapping of recurrent mutation c.3978G>A (p.Trp1326*) will aid in establishing its founder effect in the Khyber Pakhtunkhwa (KPK) inhabitant population of Pakistan and should be suggestively screened for premarital counseling of MCPH susceptible families. Most of the recruited families are related to first-degree consanguinity. Hence, all the family elders were counseled to avoid intrafamilial marriages.

No abstract

The passive safety systems of AP1000 are designed to operate automatically at desired set-points. However, the unavailability or failure to operate of any of the passive safety systems will change the accident sequence and may affect reactor safety. The analysis in this study is based on some hypothetical scenarios, in which the passive safety system failure is considered during the loss of coolant accidents. Four different cases are assumed, that is, with all passive systems, without actuation of one of the accumulators, without actuation of ADS stages 1–3, and without actuation of ADS stage 4. The actuation of all safety systems at their actuation set-points provides adequate core cooling by injecting sufficient water inventory into reactor core. The LOCA with actuation of one of the accumulators cause early actuation of ADS and IRWST. In case of LOCA without ADS stages 1–3, the primary system depressurization is relatively slow and mixture level above core active region drops much earlier than IRWST actuation. The accident without ADS stage 4 actuation results in slow depressurization and mixture level above core active region drops earlier than IRWST injection. Moreover, the comparison of cladding surface temperature is performed in all cases considered in this work.

DC motor is a common component used in automated systems, almost in every industry. In this paper, the focus is on the machine tool and precision system control design as DC motors are used as prime movers for all the stages. S ophisticated CNC machine tools use high end closed or open architecture control and sensors to run complex CAM routines. Linear or rotary encoders and glass scales are commonly used for rate sensing as a feedback system in CNC machine tools. The intelligent control design is necessary to operate these flexible CNC machine tool systems to achieve high accuracies. To make such systems in low cost, it is necessary to build machine tool system with reduced number of sensors. In this paper, an intelligent speed control of DC motor in a sensor less environment is followed in order to avoid costly hardware. This is a stochastic estimation method for estimating DC motor angular rate and current without using any rate sensors in the closed loop feedback. In this simple and cost effective approach, we have used Kalman Filter (KF) for the speed control of DC motor where it is applied to stochastic time varying system. KF is found robust against external disturbances and has the ability to predict such states and parameters which are even not easy to measure through deployed sensors. The employed scheme uses the state estimation technique by analyzing the currents in the windings and re-constructs the states. This way, the machine tool can get high accuracies using low cost control alternative.