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Home > Genetic and Molecular Characterization of the Patientswith Intellectual Disability from Khuzdar

Genetic and Molecular Characterization of the Patientswith Intellectual Disability from Khuzdar

Thesis Info

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Author

Qurat Ul Ain

Institute

Virtual University of Pakistan

Institute Type

Public

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2019

Thesis Completion Status

Completed

Subject

Software Engineering

Language

English

Link

http://vspace.vu.edu.pk/detail.aspx?id=393

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676721041257

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Intellectual disability is a neurodevelopmental disorder in which intellectual functioning is affected and discrepancies are present in at least two adaptive behaviors (American Psychiatric Association 2000). It develops before age 18 and intelligence quotient is below 70 of affected person. Its prevalence is approximately 1% to 3%.in all over the world. Mostly its cases are heterogenic in nature. Although it is present in all parts of the world, but developing countries are affected more, where standard of living is low and consanguinity is more common. It may be due to the prevailing environment in cultures where socioeconomic status of people is not good. Two main reasons of ID are genomic and external factors like environment. In developed countries, it is mostly due to genetic factors, but the underlying cause is not determined in most cases. Genetic factors can be chromosomal aberrations, X-linked, autosomal recessive or autosomal dominant or de novo mutations. In contrast to past few decades, now it is assumed that autosomal-recessive forms of non-syndromic MR (NS-ARMR) are more prevailing than X-linked mental retardation. Although these autosomal recessive gene abnormalities are the common culprits in intellectual disability, yet there is very little research about them. In present study five families from various areas of Khuzdar were enrolled. These families have two or more members suffering from intellectual disability. A complete medical history was obtained to minimize likelihood of other problems like environmental issues. Then sequencing of TRAPPC9 gene is performed and results show variants in three families. Family 1 and 2 showed synonymous variant in exon 11 of TRAPPC9 gene at c.1692 C>T (p.Asn564Asn), where nucleotide sequence changes from AAC>AAT but amino acid does not change (rs12549048). Family 1 also showed missense mutation in exon 19, c.2797 G>A (p.Gly933Ser), where change from GGT>AGT results in substitution of Serine instead of Glycine (rs114949291). Family 5 show missense changes in exon 18 of this gene, at c.2647 G>A (p.Glu883Lys), where change from GAA>AAA results in Lysine instead of Glutamic acid (rs1202087896).
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زمیں سے عرش کی جانب سفر وہؐ کرتے گئے


زمیں سے عرش کی جانب سفر وہؐ کرتے گئے
غبارِ راہ کو رشکِ قمر وہؐ کرتے گئے

مری خطائوں سے صرفِ نظر وہؐ کرتے گئے
کرم کے کب تھا میں قابل مگر وہؐ کرتے گئے

جواب دیتے گئے چارہ گر زمانے کے
علاج و چارئہ زخمِ جگر وہؐ کرتے گئے

وہ جنؐ کی نسبتِ عالی پہ ناز ہے مجھ کو
مری کتابِ عمل معتبر وہؐ کرتے گئے

ورا زمان و مکاں سے ہے رحمتِ کونینؐ
کرم کی بارشیں آٹھوں پہر وہؐ کرتے گئے

لبوں پہ نورِ مجسمؐ کی نعت رکھتا ہوں
شبِ سیاہ کو نورِ سحر وہؐ کرتے گئے

کہاں کہاں ہے قدم رکھ کے چلنا دنیا میں
قدم قدم پہ جہاں کو خبر وہؐ کرتے گئے

شعاعِ مہرِ رسالت پڑی ہے جس جس پر
اُسی اُسی کو مثالِ گہر وہؐ کرتے گئے

یہ معجزئہ حبیبِ خداؐ ہے اے عرفانؔ!
ہوا ہے ِقبلہ اُدھر رُخ جدھر وہؐ کرتے گئے

کی عرض ؛ حرفِ ثنا کیجئے عطا آقاؐ!
نزول نعت کا عرفانؔ پر وہؐ کرتے گئے

نوجوانوں میں تعلیم و تربیت کے فقدان کا تدارک اور سدباب: سیرت مبارکہ کی روشنی میں

Youth is no doubt the asset of Muslim world. If they are utilized in charitable activities; in the protection of respect and honor; and developmental works, they can prove to be beneficial and a blessing. While if they are taken by destructive elements in their hands they will become source of destruction and harm. By providing proper Islamic education, our future will be in safe hands and will breath in an air of respect among other nations. In young age, deterioration in manners and moral corruption are alarming and cause mischief in society. Therefore, the interest taken in the problems of youth will result in a progressive society and ummah. Islam has given a special place to youth and has declared them future architect and leaders of humanity. The holy prophet S.A.W has given much importance to the youth and focused on them during his life time.  In Islamic history, Muslim youth has represented the Muslim world in golden words and has spread the message of Islam’s moral height and greatness to the coming generations and nations. Due to the importance of youth problem of the youth in current time regarding lack of education and training are particularly discussed in this article. The research article begins with the detailed study of the research done in the area of education and socialization of youth. Moreover, the importance of education and socialization has been discussed in the light of the teachings of Quran and Hadith. After this, decadence in education, factors responsible for the decadence in education and its worse consequences have been thoroughly discussed in the light of the teachings of Islam.  As there are several reasons responsible for the downfall of education like: parents, teachers, education system, society, state, preachers, political parties and media, therefore, responsibility of the remedy of this lack of proper education and socialization also depend on all these stake holders. In the end of the paper, recommendations are given for the cure of decadence in education.

Structural, Electronic and Vibrational Properties of 2Nd Row Transition Metal Clusters

Metal clusters play key role in chemical industry, nanotechnology and cellular biology. Chemical industry depends on the selection, development and application of catalysts. The most valuable catalysts used in these modern chemical industries consist of metal clusters. Introduction of a dopant atom in a metal cluster significantly enhances the catalytic activity. Moreover, in heterogeneous catalysis, the ability of metal cluster to react chemically with different molecular species totally depends on the size of the clusters. Bimetallic nano clusters have gained significant interest due to their specific and matchless structural, optical, electronic, and magnetic properties and their significance in nano technology and catalysis. Full range of bimetallic silver-yttrium AgnYm cluster of low nuclearity (n + m = 2-10) are studied using the density functional theory (DFT) at TPSSTPSS method with a Lanl2dz pseudopotential. The results for various properties including structural, ionization potential adiabetic, electron affinity, binding energy, HOMO-LUMO gap, average bond length, total energy, bond dissociation energy and 2nd order difference energy are evaluated as function of (n+m) size of the system. Moreover, the results for these bimetallic clusters are compared with pure silver and yttrium clusters. Different spin multiplicities of each cluster are also studied to locate the low energy structures. Cluster with higher nuclearity (n + m ≥7) favors three dimensional structure where clusters with low nuclearity (m + n ≤6) except (n + m = 5) favor two dimensional structure. Ag6 cluster also preferred planar 2D configuration. All pure silver clusters are more stable in low spin multiplicity, while pure yttrium clusters are more stable in higher spin multiplicity. Multiple bimetallic silver yttrium clusters have stability at varying spin state. Based on binding energy values the pure yttrium clusters are more stable than pure silver and bimetallic clusters. Density functional theory calculations have also been performed on pure silver (Agn), yttrium (Ym) and bimetallic silver yttrium clusters AgnYm (n+m = 2-10) for reactivity descriptors in order to find active sites for electrophilic and nucleophilic attack. The results illustrates that atoms in a stable ground state in a geometry can be categorized into different types of reactive sites. The reactivity of numerous sites as a function of cluster size and shape was thus investigated. The investigation reveals that the sizes and shapes of the pure silver, yttrium and bimetallic silver yttrium cluster (n = 2-10) influence the number and position of active sites for an electrophilic and/or nucleophilic attack. Doping of pure clusters with the other elements also influences the hardness, softness and chemical reactivity of the clusters. The softness increases as we increase the number of silver atoms in the cluster, whereas the hardness decreases. The chemical reactivity increases with silver doping whereas it decreases by yttrium doping. Silver atoms are nucleophilic in small clusters whereas, in large clusters, silver atoms are electrophilic in nature. The research here is designed at the investigation of new bimetallic clusters with distinctive electronic properties. These distinctive electronic properties comfort in finding new applications in electronic devices. Furthermore, these silver yttrium bimetallic clusters are expected to have improved catalytic activity which will assist industrial processes.