Genodermatoses include a large group of inherited dermatological disorders that is often present with multisystem involvement resulting in various clinical manifestations due to genetic heterogeneity with pathogenic variations in more than 500 genes. Most genodermatoses occur early, during the neonatal period, infancy or early childhood, some conditions may appear later in life during adolescence or adulthood. Diagnosis of genodermatoses has been a major challenge and requires both clinical and investigational correlation to reach a diagnosis. Sometimes, even with comprehensive investigations, a definitive diagnosis cannot be achieved. With the arrival of new investigational. methods such as next generation sequencing, which not only successfully identified the molecular basis of many genodermatoses but also play important role in clinical use to help in the diagnosis of patients with suspected genodermatoses. In the current study, whole exome sequencing and Sanger sequencing were used to investigate genetic defects of nine Pakistani families affected with pseudoxanthoma elasticum (Families: A and B) and epidermolysis bullosa (Families: C,D E,F,G,H,I). Whole exome sequencing identified a novel homozygous frameshift variant (c.1799_1805dupGTCTGGT; p. Thr603fs*11) in ABCC6 in family A, a compound heterozygous variant (c.2294G>A; p.Arg765Gln and c.2974G>A; p.Gly992Arg) in ABCC6 in family B, a single nucleotide insertion variant (c.151insG; p.Gln226fs*) in LAMA3 in family C, two novel missense variants c.1285G>T (p.Asp429Tyr) and c.3373G>A (p.Gly1125Ser) in ITGB4 in family D, a novel homozygous missense variant c.1828A>G (p.Arg610Gly) in PLEC in family E, a heterozygous missense variant c.6209G>A (p.Gly2070Glu) in COL7A1 in family F, a homozygous frameshift variant c.676dupC (p.Gln226fs) in FERMT1 in family G, a homozygous nonsense variant c. C1705T in LAMB3 in family H and a homozygous nonsense variant c.C1573T (p.R525X) in COL7A1 in family I. In conclusion, two families affected with pseudoxanthoma elasticum and seven families affected with epidermolysis bullosa were identified with novel variants in ABCC6, ITGB4, and PLEC1. It should be assistive in the genetic counseling and prenatal diagnosis of the families as well as for the designing of improved diagnostic and therapeutic approaches.
ڈاکٹر عبدالستار الجواری عربی زبان کے عاشق شیدائی اور اسلامی علوم خصوصاً قرآنیات کے خادم کی حیثیت سے ڈاکٹر احمد عبدالستار الجواری کا نام عرب کے علمی حلقوں میں تعارف کا محتاج نہیں۔ ۲۲؍ جنوری ۸۸ء کو وہ نماز جمعہ کی تیاری کررہے تھے کہ اچانک ان کا پیمانہ عمر لبریز ہوگیا، انتقال کے وقت ان کی عمر ۶۲، ۶۳ سال تھی اور وہ علم کے بام عروج پر پہنچے ہوئے تھے۔ وہ ۱۹۲۵ء میں بغداد کے قدیم تاریخی محلہ کرخ میں پیدا ہوئے، اس محلہ کے خانوادے اور گھرانے آج بھی قدیم عربی روایات و خصوصیات کے حامل ہیں، ڈاکٹر احمد نے بھی ایک شریف و معزز خاندان میں آنکھیں کھولیں، بی اے تک کی تعلیم بغداد میں حاصل کی اور طہ الراوی، مہدی البصیر، عبدالوہاب عزام اور زکی مبارک جیسے ممتاز اساتذہ سے استفادہ کیا، بعد میں قاہرہ سے ایم اے کیا وہاں ان کو طہ حسین، احمد امین، احمد الشائب، مصطفی السقا اور امین الخولی جیسے مشاہیر فضلا کی عنایات بھی حاصل رہیں۔ تعلیم کے بعد وہ عراق کی مختلف اعلیٰ تعلیمی و انتظامی ذمہ داریوں سے عہدہ برآ ہوتے رہے، ۱۹۷۹ء تک وہ کئی محکموں کے وزیر بھی رہے لیکن یہ انتظامی سرگرمیاں ان کی علمی و تحقیقی راہ میں کبھی حائل نہ ہوئیں، عالم عرب کے اہم سمیناروں اور باوقار علمی مجلسوں میں برابر شریک ہوتے رہے۔ ان کے مقالوں اور خطبوں میں عموماً اسلامیات اور امت عربی کے مسائل زیر بحث آتے جو علمی متانت و سنجیدگی کی وجہ سے بڑی توجہ سے سنے جاتے۔ ان علمی خدمات کے اعتراف میں ۶۵ء میں ان کو عراق کی المجمع العلمی کا رکن بنایا گیا، بعد میں وہ دمشق اور قاہرہ کی علمی اکیڈمیوں کے بھی رکن مقرر ہوئے، ۶۹ء میں عرب کی یونیورسٹیوں اور کالجوں کے اساتذہ کی انجمن اتحاد معلمین عرب...
This paper has been written for comparative analysis of adoption in Islam with adoption as it is known in modern jurisprudence throughout the world having itssecular background. Concept of adoption and its scope in Islam has been explored. Further importance of adoption in Islam has been re-iterated in this paper with support of Quranic verses, Hadis and with Instances from Sunnah. Special attention has been drawn towards prevailing laws in Pakistan regarding adoption, protection and security measures embodied in those laws. An overview of Superior Courts Judgement has been made in order to demonstrate the bent of courttowards adoption of child and interpretation of law concerning child adoption. This paper also touches the growing international concerns of child laundering and for this purpose brief intro of recent steps taken in Pakistan, i. E. Establishment of Sindh Child Protection Authority and enactment of The Prevention of Human Trafficking in Persons Act, 2018 has been given.
This study is an investigation into the contribution of bilingualism to learning English as a foreign language; and the limited and judicious use of mother tongue in EFL classroom does not reduce students’ communicative ability but can assist in teaching learning process. It proposes an explanation for this, based on the historical development of bilingualism over time that has remained the dominant practice in English language classes in Pakistan. Moreover, it seeks to understand whether teachers and the learners who do have another language draw on it in ways relevant to the teaching of English, and to suggest reasons why learners’ and teachers’ languages are disregarded in the teaching and learning process. In doing so, the dissertation draws on key bodies of literature in bilingualism, second language acquisition and critical studies in an attempt to provide a framework for considering the research questions. The study employed a qualitative, interpretive research design involving questionnaires, classroom observations and semi-structured interviews. The data chapter analyzed the students and the teachers’ expressed responses and beliefs about the role of learners’ first language(s) (L1) in the EFL class. The findings of the study in general are that bilingualism as a resource in teaching aids and facilitates in learning L2. There are differences between bilingual and monolingual teachers in that the former have much richer resources on which to draw. There are added insights which come from circumstantial or elective bilingual experience, from being a non- native English speaker, and from formal and informal learning experience. These propositions are discussed in the light of the writings of critical theorists to give a wider perspective on bilingualism as a teaching aid. It is suggested that bilingualism as a teaching aid should become a legitimate topic for discussion and further research.