Description of novel variants in consanguineous Pakistani families affected with intellectual disability

Rasool Iqra Ghulam,Zahoor Muhammad Yasir,Ahmed Irfan,Iqbal Muhammad,Shafqat Shehla,Anjum Aftab Ahmad,Shehzad Wasim 한국유전학회 2023 Genes & Genomics Vol.45 No.4

Background Intellectual disability (ID) is a neurodevelopmental condition, affecting 1–3% of the population. Genetic factors play a key role causing the limitation in intellectual functioning and adaptive behavior. The heterogeneity of ID makes it more difficult for genetic and clinical diagnosis. Mapping of variants through next generation DNA sequencing in consanguineous families would help to understand the molecular parthenogenesis of ID. Objective The aim of this study was to describe the genetic variants of ID in consanguineous Pakistani families. Methods We analyzed four unrelated consanguineous Pakistani families having an intellectual disability through whole exome sequencing (WES). Data was analyzed using different bioinformatics tools and software. Results We mapped four novel variants in different ID genes. Each variant is found in different family, co-segregating with a recessive pattern of inheritance. The variants found are; c.1437delG:p.Asn480Thrfs*10, mapped in FKRP, c.2041 C>A:p.Leu681Met in HIRA, c.382 C>T:p.Arg128Cys in BDH1 and c.267+1G>A:p.? identified in TRAPPC6B. Conclusions These variants help in demonstration of status and molecular basis of intellectual disability in Pakistani population leading to provision of genetic counseling services and a contribution in disease variant database.

Characteristics, kinetics and thermodynamics of Congo Red biosorption by activated sulfidogenic sludge from an aqueous solution

Rasool, K.,Lee, D. S. Springer-Verlag 2015 International journal of environmental science and Vol.12 No.2

Enhanced photostability in polymer solar cells achieved with modified electron transport layer

Rasool, Shafket,Van Doan, Vu,Lee, Hang Ken,Lee, Sang Kyu,Lee, Jong-Cheol,Moon, Sang-Jin,So, Won Wook,Song, Chang Eun,Shin, Won Suk Elsevier 2019 THIN SOLID FILMS - Vol.669 No.-

<P><B>Abstract</B></P> <P>Photostability of the polymer solar cells (PSCs) remains a challenge to attain, as number of factors including the electron transport layers contribute to the degradation of PSCs when they are tested under 1 sun illumination, along with heat and humidity. Especially electron transport layers (ETLs) have considerable contribution to the overall degradations in these solar cells. Most studied ETL into the fabrication of inverted PSCs is zinc oxide (ZnO) yet the photostability of these PSCs is limited. This degradation most probably occurred due to the direct contact of zinc metal with the photoactive layer. This interface between ZnO and photoactive layer results in the initiation of degradations in PSCs. Keeping in view of this issue, we have modified the ZnO ETL by mixing ZnO nano particles with ethoxylated polyethyleneimine (PEIE) and then passivating this modified ZnO (m-ZnO) with ultrathin PEIE buffer layer. The power conversion efficiency is not affected by this approach, but when PSCs were subjected to 1 sun illumination, these m-ZnO/PEIE based PSCs have shown the enhanced light soaking (LS) stability. These findings indicate that optimizing the interface between the photoactive layer and the electron transport layer can lead to enhanced LS stability.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Ethoxylated polyethylenimine (PEIE) passivated ZnO (m-ZnO) as electron transport layer (ETL). </LI> <LI> The direct contact of ZnO with photoactive layer is avoided. </LI> <LI> The m-ZnO/PEIE layer help in enhanced light soaking (LS) stability. </LI> <LI> The m-ZnO/PEIE layer has nitrogen enriched surface. </LI> <LI> The nitrogen enriched ETL surface contributes to enhanced LS stability. </LI> </UL> </P>

Dynamic analysis of functionally graded nanocomposite plates reinforced by wavy carbon nanotube

Rasool Moradi-Dastjerdi,Hamed Momeni-Khabisi 국제구조공학회 2016 Steel and Composite Structures, An International J Vol.22 No.2

In this paper, free vibration, forced vibration, resonance and stress wave propagation behavior in nanocomposite plates reinforced by wavy carbon nanotube (CNT) are studied by a mesh-free method based on first order shear deformation theory (FSDT). The plates are resting on Winkler-Pasternak elastic foundation and subjected to periodic or impact loading. The distributions of CNTs are considered functionally graded (FG) or uniform along the thickness and their mechanical properties are estimated by an extended rule of mixture. In the mesh-free analysis, moving least squares (MLS) shape functions are used for approximation of displacement field in the weak form of motion equation and the transformation method is used for imposition of essential boundary conditions. Effects of CNT distribution, volume fraction, aspect ratio and waviness, and also effects of elastic foundation coefficients, plate thickness and time depended loading are examined on the vibrational and stresses wave propagation responses of the nanocomposite plates reinforced by wavy CNT.

Wave propagation in functionally graded composite cylinders reinforced by aggregated carbon nanotube

Rasool Moradi-Dastjerdi 국제구조공학회 2016 Structural Engineering and Mechanics, An Int'l Jou Vol.57 No.3

This work reports wave propagation in the nanocomposite cylinders that reinforced by straight single-walled carbon nanotubes based on a mesh-free method. Moving least square shape functions have been used for approximation of displacement field in weak form of motion equation. The straight carbon nanotubes (CNTs) are assumed to be oriented in specific or random directions or locally aggregated into some clusters. In this simulation, an axisymmetric model is used and also the volume fractions of the CNTs and clusters are assumed to be functionally graded along the thickness. So, material properties of the carbon nanotube reinforced composite cylinders are variable and estimated based on the Eshelby-Mori-Tanaka approach. The effects of orientation, aggregation and volume fractions of the functionally graded clusters and CNTs on dynamic behavior of nanocomposite cylinders are studied. This study results show that orientation and aggregation of CNTs have significant effects on the effective stiffness and dynamic behaviors.

Utilization of Sunflower Crop Residues as Feed in Small Ruminants

Rasool, Ejaz,Khan, M.F.,Nawaz, M.,Rafiq, M. Asian Australasian Association of Animal Productio 1998 Animal Bioscience Vol.11 No.3

Sheep and goats in Pakistan have not been able to produce to the best of their potential. This may primarily be attributed to under feeding and malnutrition. Ranges have been depleted due to overgrazing and mismanagement and are not in position to feed the existing small ruminant population. To overcome the shortage of good quality fodder and balanced feed supply, the alternate means like cereal straws and other crop residues are being commonly used. Sunflower crop residues like stalks and heads provide a good quality forage for livestock. These crop byproducts are rich in crude protein and lower in crude fibre. Their inclusion in the diet of small ruminants at 20, 30 and 40 percent levels in ration has shown significantly (p < 0.05) increased feed intake and weight gain. Daily feed intake was 1,130, 1,180 and 1,750 g for sunflower crop residue, soybean crop residue and wheat straw, respectively, when added at the rate of 20 percent in the ration. The drymatter digestibility of sunflower, soybean crop residues and wheat straw was also comparable. The maximum performance of the animals was observed at the 20 percent level of inclusion of sunflower crop residue in the diet.

Effects of Sulfidation on ZnO Nanoparticle Dissolution and Aggregation in Sulfate-Containing Suspensions

Rasool, Kashif,Lee, Dae Sung American Scientific Publishers 2015 Journal of nanoscience and nanotechnology Vol.15 No.9

Suppressive effect of Spirulina fusiformis in relation to lysosomal acid hydrolases, lipid peroxidation, antioxidant status, and inflammatory mediator TNF-alpha on experimental gouty arthritis in mice

Rasool, Mahaboob Khan,Sabina, Evan Prince,Nithya, Pichandy,Lavanya, Kumar Kyung Hee Oriental Medicine Research Center 2009 Oriental pharmacy and experimental medicine Vol.9 No.2

The anti-inflammatory effect of Spirulina fusiformis on monosodium urate crystal-induced inflammation in mice has been investigated and compared with the non-steroidal anti-inflammatory drug Indomethacin. The paw volume, lysosomal enzyme activities, lipid peroxidation, anti-oxidant status and inflammatory mediator tumour necrosis factor-$\alpha$ were studied in control and monosodium urate crystal-induced mice after oral administration of Spirulina platensis in an experimental model for gouty arthritis. In the induced mice, the levels of lysosomal enzymes, inflammatory mediator tumour necrosis factor-$\alpha$, lipid peroxidation and the paw volume increased significantly, whereas the antioxidant status decreased when compared to control mice. $\beta$-glucuronidase and lactate dehydrogenase level were also found to be increased in untreated monosodium urate crystal-incubated polymorphonuclear leucocytes. After the oral administration of Spirulina fusiformis, the physical and biochemical changes observed in monosodium urate crystal-induced animals were significantly restored to near normal levels. The results clearly indicated the anti-inflammatory role of Spirulina fusiformis, a promising drug for gouty arthritis.

Numerical investigation of centrifugal passive cell separation in three types of serpentine microchannels and comparison with fixed platform

Rasool Dezhkam,Ali Shafiei Souderjani,Amir Shamloo,Mohammadmahdi Eskandarisani,Ali Mashhadian 한국공업화학회 2023 Journal of Industrial and Engineering Chemistry Vol.124 No.-

Cell separation plays a crucial role in diagnosing and improving a wide range of diseases, such as cancer,which is a severe reason for the death of people in the current decades. Circulating tumor cells (CTCs)inside the blood can be separated from the other whole blood cells to detect early cancer. Inertial methodsare more superficial and cost less than the current CTC separation methods. These methods also havegreat potential in high-throughput separation in lab-on-a-chip (LOC) and lab-on-a-disk (LOD) devicesbecause of secondary flow generation, especially in serpentine-shaped microchannels. The present studyconsiders a continuous process for separating CTCs from the blood sample. This process is utilized in LODdevices, and this platform is also compared with the LOC platform. Moreover, two common types of differentserpentine-shaped channels (simple and curved) and a new Omega channel are compared. Itshould be noted that a direct numerical simulation (DNS) method is used for calculating lift force inthe serpentine-shaped channels. The effect of fluid velocity on WBC and CTC separation efficiency inthe three mentioned different geometries are investigated in both fixed and rotational platforms, thenthe best results for each of them are presented. Finally, the best results belonged to the simple serpentinebetween the three investigated channels, with a separation percentage of 100. Moreover, in comparingthe two mentioned platforms, LOD showed a more efficient application in cell separation. In addition,the Omega channel is investigated as a novel serpentine geometry. According to the results, it can be usedfor particle focusing applications thanks to its 100 percent efficiency at 0.5 m/s in both LOD and LOCplatforms.

Arterial Compliance and Vitamin E Blood Levels with a Self Emulsifying Preparation of Tocotrienol Rich Vitamin E

Rasool, Aida Hanum Ghulam,Rahman, Abd Rashid Abd.,Yuen, Kah Hay,Wong, Abdul Rahim 대한약학회 2008 Archives of Pharmacal Research Vol.31 No.9

The tocotrienol vitamin E has potent antioxidant property, however absorption is low due to high lipid solubility. A self emulsifying preparation of tocotrienol rich vitamin E (SF-TRE) had been reported to increase their bioavailability. This randomized, placebo controlled, blinded end point clinical study aimed to determine the effects of 50, 100 and 200 mg daily of SF-TRE and placebo for two months on arterial compliance and vitamin E blood levels. Assessment of arterial compliance by carotid femoral pulse wave velocity (PWV) and augmentation index (AI), plasma vitamin E, serum total cholesterol and low density lipoprotein cholesterol were taken before and after 2 months' treatment in 36 healthy males. Un-supplemented tocotrienol levels were low, after treatment, all SF-TRE treated groups had significantly higher plasma $\alpha$, $\delta$ and $\delta$ tocotrienol concentrations compared to placebo. Augmentation index change from baseline to end of treatment for groups placebo, 50, 100, and 200 mg were $2.22{\pm}1.54$, $-6.59{\pm}2.84$, $-8.72{\pm}3.77$, and $-6.27{\pm}2.67%$ respectively (p=0.049, 0.049, and 0.047 respectively). Groups 100 and 200 mg showed significant improvement after treatment with pulse wave velocity reductions of 0.77 m/s and 0.65 m/s respectively (p=0.007 and p=0.002). There was no effect of SF-TRE on serum lipids. We conclude that there was a trend towards improvement in arterial compliance with 2 months' of SF-TRE.