Evaluation of type 2 diabetes risk variants (alleles) in the Pashtun ethnic population of Pakistan / Journal of the ASEAN Federation of Endocrine Societies

Objective@#To evaluate the Type 2 Diabetes (T2D) risk variants in the Pashtun ethnic population of Khyber Pakhtunkhwa using nascent whole-exome sequencing (WES) to better understand the pathogenesis of this complex polygenic disorder.@*Methodology@#A total of 100 confirmed patients with T2D of Pashtun ethnicity were included in the study, DNA was extracted from whole blood samples, and paired-end libraries were prepared using the Illumina Nextera XT DNA library kit carefully following the manufacturer’s instructions. Illumina HiSeq 2000 was used to obtain sequences of the prepared libraries followed by bioinformatics data analysis.@*Results@#A total of n=11 pathogenic/likely pathogenic variants were reported in the CAP10, PAX4, IRS-2, NEUROD1, CDKL1 and WFS1. Among the reported variants CAP10/rs55878652 (c.1990-7T>C; p.Leu446Pro) and CAP10/rs2975766 (c.1996A>G; p.Ile666Val) identified were novel, and have not yet been reported for any disease in the database. The variants CAP10/rs7607759 (c.1510A>G, p.Thr504Ala), PAX4/rs712701 (c.962A>C; p.His321Pro), PAX4/ rs772936097 (c.748-3delT; p.Arg325Trp), IRS-2/rs1805097 (c.3170G>A; p.Gly1057Asp), NEUROD1/rs1801262 (c.133A>G; p.Thr45Ala), CDKL1/rs77152992 (c.1226C>T; p.Pro409Leu), WFS1/rs1801212 (c.997G>A; p.Val333Ile), WFS1/rs1801208 (c.1367G>A; p.Arg456His), and WFS1/rs734312 (c.1832G>A; p.Arg611His) are previously identified in other ethnic populations. Our study reconfirms the associations of these variants with T2D in the Pakistani Pashtun population.@*Conclusion@#In-silico analysis of exome sequencing data suggests a statistically substantial association of all (n=11) identified variants with T2D in the Pashtun ethnic population. This study may serve as a foundation for performing future molecular studies aimed at unraveling T2D associated genes.

Study on quality and efficacy of commercial tylosin and doxycycline products against local isolates of mycoplasma in broilers

The present study was conducted to investigate the quality and efficacy of commercially available preparations of tylosin and doxycycline available in the local market at Peshawar for poultry. In vitro and in vivo, tests were conducted to check the quality of these antimicrobial drugs. In vitro quality control test was performed by High performance liquid chromatographic [HPLC] and micro dilution method. In vivo, efficacy of the test drugs was checked in broilers infected with Mycoplasma gallisepticum. Results of HPLC indicated that test drug-2 contains doxycycline hydrochloride within specified limits but contain high quantity of active ingredient [Tylosin tartrate 120%]. Recovery percentage of test drugs [3, 4, 5] were below the pharmacopoeial limit, which contained low quantity of tylosin tartrate [85%, 87.5%, 85%] respectively however, percent recovery of doxycycline were in the appropriate limits. All the tested drugs were effective against Mycoplasma gallisepticum and showed minimum inhibitory concentration [MIC] at 1.9micro g/ml. The in vivo result indicated that all tested drugs decreased morbidity and mortality in infected chicks. The birds treated with test drugs [3 and 5] showed mortality of 9.5%, which was slightly higher than the other test groups. The current study suggested that there are incidences of substandard drugs in Pakistan and the drug regularity authorities should take strict actions against the manufacturing companies

Effects of medetomidine on serum glucose in cattle calves

An experimental study was carried out to compare physiological effects [serum glucose level] of medetomidine in Red Sindhi cattle calves at three different doses i.e. 8, 10 and 12microg/kg body weight intravenously. Medetomidine produced a dose dependent significant [P<0.01] increase in serum glucose level with a maximum increase observed at 30 minutes with 8microg/kg, 10microg/kg and 12microg/kg body weight respectively. Start of sedation, degree of sedation and total duration of sedation were all dose dependent and the values obtained were significantly [P<0.01] different from each other. It was observed that the sedation was rapid, deep and longer with the higher doses of medetomidine i.e. 12microg/kg. The results of the present study shows that medetomidine is a very effective and safest drug use as sedative for calves which in lower doses [8microg/kg] can be used as a pre-anesthetic and for restraining of the animal, while higher calculated doses [10microg/kg, 12microg/kg] can be used to execute the minor surgical procedures

Toxic epidermal necrolysis

Toxic epidermal necrolysis [TEN] is a clinical syndrome characterized by severe exfoliative skin changes, erosive mucosal involvement, and potentially life-threatening multisystem involvement. We present a 1 year old boy with recurrent rashes and fever, who turned out to be a case of toxic epidermal necrolysis

Physicochemical characteristics of various milk samples available in Pakistan / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

We report physicochemical characteristics of various kinds of liquid milk commercially available in Pakistan in comparison with those of fresh natural milk from animals. Milk samples were collected from local markets at Peshawar, Pakistan, and analyzed for their physical features, including moisture, total solids, specific gravity, conductivity, viscosity and titratable acidity (lactic acid equivalent), and chemical components and macro-minerals, including total protein, casein, lactose, ash and minerals (Na, K and Mg). These items were compared with the physicochemical characteristics of the fresh natural milk samples from buffalo, cow and goat. The results were also compared with reported nutritional quality of milk from various countries and World Health Organization (WHO) standards. We found that all the physical features and chemical components of commercially available milk in Pakistan markets meet WHO's requirements, except for Na, K, Ca and Mg, which are below the standards.

Frequency of disorders causing childhood thrombocytopenia

Objective: To study the relative frequency of the disorders causing childhood thrombocytopenia

Patients and Methods: This descriptive study was conducted in the Department of Hematology and Transfusion Medicine Division, the Children Hospital and the Institute of Child Health, Lahore and the Department of Pediatrics, Services Hospital Lahore. The duration of the study was 1 year from March 2005 to April 2006. Two hundred cases having platelet countless than 1, 50,000/mm3 were included in this study. Causes of thrombocytopenia were determined on the basis of history, physical examination and various investigations. The data were collected on a proforma and analyzed using SPSS for Windows version 8. The results were compared with other studies. Chi- Square test was applied to determine P-values

Results: Acute lymphoblastic leukemia was found to be the commonest cause of childhood thrombocytopenia observed in 60 [30.0%] cases, followed by hypoplastic / aplastic anemia 40 [20%] cases, AML in 30 [15%], ITP in 28 [14%] cases and megaloblastic anemia in 20 [10%] cases. Drugs and infections together caused thrombocytopenia in a considerable number of patients. 96 children [48.0%] had platelet count in the range of 11-40 x 10[9]/L. Hemorrhagic manifestations were seen in 123 [61.5%] children. Epistaxis and purpura / bruises were the main presenting bleeding manifestations

Conclusion: Thrombocytopenia is associated with different disorders and acute lymphoblastic leukemia was found be the most common of childhood thrombocytopenia