وصیتِ علم و عمل
وجود ِ انسانی کے ارتقا کی تاریخ کو نظر ِ غائر سے دیکھا جائے تو اس کی تمام تر ترقی ’’ علم ــ‘‘ کی مرہون منت ہے۔علم ہی وہ اکائی ہے جس میں تہذیب و تمدن اور تربیت کے سوتے پھوٹتے دکھائی دیتے ہیں۔علم کی خصوصیت کی وجہ سے انسان اشرف المخلوقات ہے اس کے سبب سے اسے فرشتوں پر فضیلت ملی اور اسی کی بدولت خلافت کا تاج سر پرسجا۔حد تو یہ ہے کہ پہلی وحی کا آغاز ہوا۔ارشاد ربانی ہے ترجمہ:۔ ’’اپنے پروردگار کے نام سے پڑھ جس نے انسان کو جمے ہوئے خون سے پیدا کیا‘‘۔یہ بھی ارشاد ر بانی سنتے چلیے ۔ ترجمہ:۔’’ اللہ تم میں سے ایمان والوں اور علم والوں کے درجات بلند فرماتا ہے‘‘۔قرآن کریم میں ہی اللہ پاک نے اپنے نبی مکرم ﷺ کو یہ دعا عطا فرمائی ۔ترجمہ:۔ ’’کہو ،اے میرے رب میرے علم میں اضافہ فرما‘‘۔ حدیث شریف میں آتا ہے کہ ’’ علم حاصل کرناہر مسلمان (مرد اور عورت)پر فرض ہے‘‘ یہی وہ علم ہے جس کی افضلیت کے پیش نظر حضرت علی کرم اللہ وجہ فرماتے ہیں’’ ہم اللہ تعالیٰ کی اس تقسیم پر راضی ہیں کہ اس نے ہمیں علم عطا کیا اور جاہلوں کو دولت دی کیوں کہ دولت تو عنقریب فنا ہوجائے گی اور علم کو زوال نہیں‘‘۔
تاریخ انسانی میں ایک خواہش جو اپنے تمام تر مدارج سمیت جھلک رہی ہے وہ یہ ہے کہ ہر شخص اپنی جدا گانہ شناخت اور منفرد پہچان کا متمنی ہے اور اس خواہش کی تکمیل کے لیے مثبت اعمال و افعال بروئے کار لا کر ہی ازلی و ابدی پہچان تک رسائی حاصل کر لینا اصل شناخت اور پہچان ہے ۔اہل علم جانتے ہیں کہ یہ اسی وقت ممکن ہے جب علم کواوڑھنا بچھونابنا لیا جائے اور فضل باری تعالیٰ...
Epilepsy which is also called seizures disorder is an uncontrolled action of the central nervous system. It is not a single disease but a set of neurological disorders. Actually in this situation, the brain does not receive a precise signal and as a result an abnormal condition is produced that is usually involuntary in action. In this review, we aimed to focus on the relationship of anti-epileptic drugs with sexual dysfunction and adaptation of better remedies that improve a patient’s family life. Sexual dysfunction is a common comorbidity in people with epilepsy which badly affects their quality of life. Sexual dysfunction is caused by different factors like psychiatric problems, anti-epileptic drugs (AEDs) and social factors etc. Sexual dysfunctions include ejaculatory failure, lessen libido, penile erection in men and irregular menstrual cycle in women. Common drugs such as Topiramate, Gabapentin (GBP), Valproate (VA), Carbamazepine (CBZ), Olanzapine (OL) and Risperidone (RTG) that are in practice to treat epilepsy usually produced adverse effect on sexual dysfunction. Even though a lot of studies have been carried out to control sexual dysfunction in epilepsy’s patient, but still research is going on. Medicine such as Cyproheptadine, Mianserin, Buspirone, Yohimbine were found better to treat epilepsy with minimum side effects of sexual dysfunction. Moreover, it is also seen that certain vasodilators, folate , and vitamin supplements are effective in improving the quality of life.
Mendelian disorders are caused by alterations in single gene with minimal influence from environment. The large effect size of these variants has always provided important insights into functional annotation of the genome. This knowledge is also instrumental for making important reproductive decisions and therapeutic intervention. Mendelian disorders are globally rare but are observed three folds more frequently in inbred/consanguineous populations. Pakistani population with high rates of consanguinity (>76%) coupled with large family size offers a rich resource for genetic studies of inherited disorders. In this study, eleven families segregating three different diseases Microcephaly, Epilepsy and Ciliopathies analysed using cutting edge technologies. Autosomal recessive primary microcephaly is a neurodevelopmental disorder characterised by congenital reduction in head circumference by >3SD from age and gender appropriate mean. Its incidence varies widely from one in million to one in 10,000; the latter pertaining to northern Pakistani population. To date, seventeen different causative genes have been reported. In this study, genetic analysis of seven families revealed one known and two novel mutations in already reported MCPH genes. Epilepsy is a heterogeneous group of neurological disorders characterized by chronic disposition to recurrent unprovoked seizures. A seizure, by definition, is an episode of abnormal, hypersynchronous activity in a neuronal population of brain that causes sudden involuntary change in behaviour, sensory perception and/or motor activity. Herein, two families were investigated through gene panel sequencing to reveal a reported and a novel mutation underlying epileptic seizures. The third category, ciliopathies, is a group of disorders caused by dysregulation of cilia related functions. Cilia are microtubule based cylindrical projections present on nearly all types of eukaryotic cells and mediate signal transduction of crucial developmental pathways. This study investigated two families, one with clinical diagnosis of a ciliopathy (Joubert Syndrome), while another family, initially undiagnosed, was successfully diagnosed as Nephronophthisis employing advanced genetic analysis. The findings of this study not only expand the mutation spectra, but through detailed clinical characterisation, highlight the diversity of its phenotype too. The knowledge will provide better insights in to disease mechanism and facilitate development of preventive and therapeutic interventions.