Showing papers by "Chandka Medical College published in 2016"
Baylor College of Medicine1, University of the Punjab2, National Institutes of Health3, Quaid-i-Azam University4, King's College London5, Chandka Medical College6, University of Lahore7, Abdul Wali Khan University Mardan8, National University of Science and Technology9, International Islamic University, Islamabad10, University of Washington11, Jinnah Hospital, Lahore12
TL;DR: The findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2 through targeted stimulated binding of sphingosine-1-phosphate.
Abstract: The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARNSHI) locus DFNB68 on 19p13.2. From exome sequence data we identified two pathogenic S1PR2 variants, c.323G>C (p.Arg108Pro) and c.419A>G (p.Tyr140Cys). Each of these variants co-segregates with congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD scores of 6.4 for family DEM4154 and 3.3 for family PKDF1400. Neither S1PR2 missense variant was reported among ∼120,000 chromosomes in the Exome Aggregation Consortium database, in 76 unrelated Pakistani exomes, or in 720 Pakistani control chromosomes. Both DNA variants affect highly conserved residues of S1PR2 and are predicted to be damaging by multiple bioinformatics tools. Molecular modeling predicts that these variants affect binding of sphingosine-1-phosphate (p.Arg108Pro) and G protein docking (p.Tyr140Cys). In the previously reported S1pr2−/− mice, stria vascularis abnormalities, organ of Corti degeneration, and profound hearing loss were observed. Additionally, hair cell defects were seen in both knockout mice and morphant zebrafish. Family PKDF1400 presents with ARNSHI, which is consistent with the lack of gross malformations in S1pr2−/− mice, whereas family DEM4154 has lower limb malformations in addition to hearing loss. Our findings suggest the possibility of developing therapies against hair cell damage (e.g., from ototoxic drugs) through targeted stimulation of S1PR2.
42 citations
TL;DR: This study points towards the simultaneous role of multiple risk factors including sun exposure, hot climate, toxic material exposure, familial transmission, and dry eye in association with pterygium.
Abstract: Purpose
The purpose of this study was to determine the factors associated with Pterygium, utilizing history and examination.
11 citations
Journal Article•
TL;DR: Sitagliptin not only improves blood glucose control but also body weight, blood pressure and lipid profile in type 2 diabetic hyperlipidaemia patients.
Abstract: Background : Dyslipidaemia is a global health issue in developed as well as in developing countries. People with type 2 Diabetes mellitus are more susceptible to develop dyslipidaemia and its related complications. The objective of the study was to assess the effect of sitagliptin a (DPP-4 inhibitor) oral antidiabetic drug on blood sugar, body weight, blood pressure and dyslipidaemia in type 2 diabetic patients. Methods: This 12 weeks open label observational study was conducted at outdoor of diabetic clinic of Sheikh Zayed Medical College/Hospital, Rahim Yar Khan in which newly diagnosed type 2 diabetic patients (n=78) with poor glycaemic control(HbA1c >7.2%) were selected. The patient received sitagliptin 50 mg twice daily for 12 weeks. Results: After 12 weeks treatment with sitagliptin, there was a significant reduction in the value of HbA1c from 8.184%±0.467 at baseline to 7.0200%±0.459 at 12 weeks ( p <0.05). Body weight also decreased significantly from 80.21kg±7.156 at baseline to 71.74 kg±6.567 at 12 weeks ( p <0.05).Systolic blood pressure decreased (SBP) decreased significantly from 138.17±6.050 mmHg at baseline to 131.22±6.311 mmHg at 12 weeks ( p <0.05). Significant changes were also seen in diastolic blood pressure which decreased from 83.14±6.714 mmHg at baseline to 75.28±6.481 mmHg at 12 weeks ( p <0.05). Significant reduction in the serum level of total Cholesterol (TC), triglycerides (TG) and Low density lipoprotein cholesterol (LDL-C) were detected (TC: 222.09±13.538 to 209.41±13.475 mg/dl, p <0.05; TG: 170.99±6.940 to 143.45±8.279 mg/dl, p <0.05; LDL-C 120.00±5.804 to 109.06±6.278 mg/dl, p <0.05). High density lipoprotein cholesterol (HDL-C) increased significantly from 42.99±4.836 mg/dl at baseline to 49.97±3.490 mg/dl at 12 weeks. Conclusion: Sitagliptin not only improves blood glucose control but also body weight, blood pressure and lipid profile in type 2 diabetic hyperlipidaemia patients Keywords: Sitagliptin, Diabetes Mellitus, HbA1c, Blood pressure, Lipid profile, body weight
9 citations
TL;DR: In the present study, two consanguineous families, A and B, in which HJMD occurs, have been identified.
Abstract: Human juvenile macular dystrophy (HJMD) results from a rare autosomal recessive genetic anomaly, manifesting with hypotrichosis and gradual loss of vision due to progressive macular degeneration. Variants in the CDH3 gene, encoding a trans-membrane glycoprotein P-cadherin, have been reported to result in HJMD [1] and its closely associated form, ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM) [2].In the present study, two consanguineous families, A and B (figures 1A, B), in which HJMD [...]
6 citations
Journal Article•
TL;DR: The objective of this study was to determine the pattern of traumatic lens dislocations presenting at the Department of Ophthalmology, Chandka Medical College, Larkana, Pakistan, from January 2002 to June 2015 to help develop the preventive strategies.
Abstract: The objective of this study was to determine the pattern of traumatic lens dislocations presenting at our institute. This may help develop the preventive strategies. The number of cases of traumatic lens dislocations, presented at the Department of Ophthalmology, Chandka Medical College, Larkana, Pakistan, from January 2002 to June 2015, were 59 including 61.02% (n=36) males and 38.98% (n=23) females. Cause of trauma was wood or plant impalement in 35.6% (n=21) cases, cracker blast in 13.55% (n=8) cases, fall on ground in 11.86% (n=7) cases, penetrating injuries with needle, scissors or knife in 10.16% (n=6) cases, road traffic accidents in 10.16% (n=6) cases, sports injuries (cricket ball and gulle danda) in 8.47% (n=5) cases, firearm injuries in 5.1% (n=3) cases, and fist hitting in 5.1% (n=3) cases. Lens was dislocated posteriorly in 33.90% (n=20) cases, anteriorly in 25.42% (n=15) cases, inferiorly in 11.86% (n=7) cases, medially in 10.17% (n=6) cases, laterally in 10.17% (n=6) cases, superiorly in 6.78% (n=4) cases, and a single (1.69%) case of lenticele was seen.
1 citations
Journal Article•
TL;DR: The case of an asymptomatic young boy, who was diagnosed as the case of autosomal recessive osteopetrosis on the basis of his genetic studies, and his survival at this age, which is surprisingly rewarding as patients with autosome recessive fractures usually die earlier by the age of 2-3 years.
Abstract: Osteopetrosis is a rare hereditary disorder of osteoclast dysfunction leading to abnormally dense and sclerotic bones that are fragile and break easily. It can be inherited in various patterns like autosomal-dominant, autosomal-recessive or as X-linked traits, but the most grievous forms of its inheritance are the autosomal-recessive ones, which show early onset and are associated with very poor prognosis. We report here the case of an asymptomatic young boy, who was diagnosed as the case of autosomal recessive osteopetrosis on the basis of his genetic studies. The reason for his unusual asymptomatic disease was the location of mutation in TCIRG1 gene that was revealed from his genetic studies. Another unusual point about him was his survival at this age, which is surprisingly rewarding as patients with autosomal recessive osteopetrosis usually die earlier by the age of 2-3 years.