Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

Mutations in adaptor protein complex‐4 (AP‐4) genes have first been identified in 2009, causing a phenotype termed as AP‐4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype‐phenotype correlation of the AP‐4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease‐causing variants in AP‐4 complex subunits, using next‐generation sequencing. Furthermore, by comparing genotype‐phenotype findings of those affected individuals with previously reported patients, we further refine the genotype‐phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP‐4 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders

Stock assessment of sturgeon fishes in the southern part of Caspian Sea (Iranian water)

The marine survey for sturgeon stock assessment was conducted in summer, winter and spring in the years 2006 and 2009 to estimate the relative and absolute abundance and percentage composition of each species in the Guilan, Mazandaran and Golestan Provinces. This survey was carried out in the Iranian waters of the Caspian Sea on board the Sisara2 and Guilan vessels using trawl nets at 2-100 m depths. Trawling was carried out in 85 stations that were selected using a stratified random design. The number of stations in each scope was based on the area of the scope in terms of the total area. Trawling and sampling in shallow water up to 10 m were carried out using 9 m trawl nets whereas 24.7 m trawl nets were used for depths more than 10 m. Trawl surveys were carried out in the daytime. Trawling velocity was kept at 2.5-3 kts and trawls lasted half an hour in order to calculate abundance, and biomass of sturgeons using the swept area method. Catch per unit area (CPUA) in the winter 2006 survey was 3853 specimens nm^2 , in the summer and winter 2007 survey was 1854 , 2912 specimens nm^2 at depths less than 10 m respectively . CPUA for sturgeons in spring 2008 survey was 2103 specimens nm2 at depths less than 10 m and 393 specimens nm2 at depths greater than 10 m (10-100 m depth). These values in the winter 2008 survey dropped to 44 specimens nm^2 at depths at depths above 10 m. CPUA for sturgeons in the spring 2009 survey was 300 specimens nm^2 at depths less than 10 m and 307 specimens nm^2 at depths greater than 10 m. In all the surveys conducted CPUA for A. persicus was higher than that for the other sturgeon species. Based on the calculations carried out in the marine survey in winter 2006 the estimated absolute abundance for sturgeons was about 2977.363 thousand. The total biomass of sturgeon was estimated as 131.713 tons. In the summer 2007 survey total abundance was estimated 1432.398 thousand, and total biomass of sturgeons was estimated at about 312.161 tons. In the winter 2007 survey total abundance for sturgeons was estimated at about 2250.105 thousand, and total biomass was estimated 578.08 tons. In the spring 2008 survey total abundance was estimated at about 3002.832 thousand. The total biomass was estimated at about 2533.318 tons .In the winter 2008 survey total abundance was estimated at about 152.722 thousand, and total biomass in winter 2008 was estimated 170.540 tons. Total abundance in spring 2009 survey was 1310.232 thousand and total biomass was estimated at 2019.tons. Investigation of stomach content of sturgeon Acipenser persicus caught under 10m depth in 2006 to 2007 surveys showed that there is significant difference in the consumed food. Polychaeta is the major food consumed and crustacean an the minor one(P>0.05).Also no new types of food( such as bony fishes or benthic) have been observed in food chain of Acipenser persicus only the food consumption rate has been related to the season of year and increases or decreases in warm or cold seasons, respectively For physiological study and determination of sexual maturation stages in sturgeon,119 gonad sampling prepared. The results showed that 63 % of fishes were females and 37 % of them were males. Gill microscopic study shows complications such as hyperplasia, curvature, adhesion, embowed, shorting and lengthen of secondary filaments and fraught bloody. Microscopic study on liver indicates signs of cloudy inflammation, fatty degeneration, dispersion of billed secretions and cell atrophy. The population genetic structure of Persian sturgeon (Acipenser persicus) in Sefidrood and Gorganrood rivers watershed analyzed based on microsatellite markers during sturgeons assessment in 2006-2008. Results showed that Acipenser persicus in two region of south part of Caspian Sea are two independent populations

Closed-form Solution for Freely Vibrating Functionally Graded Thick Doubly Curved Panel-A New Generic Approach

Abstract Today, double curvature shell panels are the main parts of each design because their geometrical characteristics provide high strength to weight ratio, aerodynamic form and beauty for the structures such as boats, submarines, automobiles and buildings. Also, functionally graded materials which present multiple properties such as high mechanical and heat resistant, simultaneously, have attracted designers. So, as the first step of any dynamic analysis, this paper concentrates on presenting a high precision and reliable method for free vibration analysis of functionally graded doubly curved shell panels. To this end, panel is modeled based on third order shear deformation theory and both of the Donnell and Sanders strain-displacement relations. A new set of potential functions and auxiliary variables are proposed to present an exact Levy-type close-form solution for vibrating FG panel. The validity and accuracy of present method are confirmed by comparing results with literature and finite element method. Also, effect of various parameters on natural frequencies are studied which are helpful for designers

Developing a Formulation Based upon Curvature for Analysis of Nonprismatic Curved Beams

A new element with three nodal curvatures has been considered for analysis of the nonprismatic curved beams by finite element method. In the formulation developed, the force-curvature relationships in polar coordinate system have been obtained first, then the curvature of the element has been assumed to have a second-order polynomial function form and the radial, tangential displacements, and rotation of the cross section have been found as a function of the curvature accounting for the effects of the cross section variation. Moreover, the relationship between nodal curvatures and nodal deformations has been calculated and used for determining the deformations in terms of curvature at an arbitrary point. The total potential energy has been calculated accounting for bending, shear, and tangential deformations. Invoking the stationary condition of the system, the force-deformation relationship for the element has been obtained. Using this relationship, the stiffness matrix and the equivalent fixed loads applying at the nodes have been computed. The results obtained have been compared with the results of some other references through several numerical examples. The comparison indicates that the present formulation has enough accuracy in analysis of thin and thick nonprismatic curved beams

Developing a Formulation Based upon Curvature for Analysis of Nonprismatic Curved Beams

A new element with three nodal curvatures has been considered for analysis of the nonprismatic curved beams by finite element method. In the formulation developed, the force-curvature relationships in polar coordinate system have been obtained first, then the curvature of the element has been assumed to have a second-order polynomial function form and the radial, tangential displacements, and rotation of the cross section have been found as a function of the curvature accounting for the effects of the cross section variation. Moreover, the relationship between nodal curvatures and nodal deformations has been calculated and used for determining the deformations in terms of curvature at an arbitrary point. The total potential energy has been calculated accounting for bending, shear, and tangential deformations. Invoking the stationary condition of the system, the force-deformation relationship for the element has been obtained. Using this relationship, the stiffness matrix and the equivalent fixed loads applying at the nodes have been computed. The results obtained have been compared with the results of some other references through several numerical examples. The comparison indicates that the present formulation has enough accuracy in analysis of thin and thick nonprismatic curved beams