Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. Methods: A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay. Results: Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females representing all the major ethnic groups of Pakistan. Parental consanguinity was reported in 65% cases and was equally distributed in the major ethnic groups. Among 58 chromosomes analyzed, mutations were identified in 45 (78.6%) chromosomes. The most frequent mutation was I2 splice (27%) followed by Ile173Asn (26%), Arg 357 Trp (19%), Gln319stop, 16% and Leu308InsT (12%), whereas Val282Leu was not observed in this study. Homozygosity was seen in 44% and heterozygosity in 34% cases. I2 splice mutation was found to be associated with SW in the homozygous. The Ile173Asn mutation was identified in both SW and SV forms. Moreover, Arg357Trp manifested SW in compound heterozygous state. Conclusion: Our study showed that CAH exists in our population with ethnic difference in the prevalence of mutations examined

Spectrum of antihypertensive therapy in South Asians at a tertiary care hospital in Pakistan

<p>Abstract</p> <p>Background</p> <p>Despite available guidelines on hypertension (HTN), use of antihypertensives is variable. This study was designed to ascertain frequency of patients on monotherapy and > 1 antihypertensive therapy and also to ascertain proportion of patients on diuretic therapy.</p> <p>Methods</p> <p>It was a crossectional study conducted on 1191 adults(age > 18 yrs)hypertensive patients selected by computerized International Classification of Diseases -9-coordination and maintenance (ICD-9-CM) presenting to a tertiary care hospital in Pakistan. Data on demographics, comorbids, type of antihypertensive drug, number of antihypertensive drug and mean duration of antihypertensive drug was recorded over 1.5 year period (2008-09). Blood pressure was recorded on admission. Primary outcome was use of combination therapy and secondary outcome was use of diuretic therapy.</p> <p>Results</p> <p>A total of 1191 participants were included. Mean age(SD) was 62.55(12.47) years, 45.3%(540) were males. Diabetes was the most common comorbid; 46.3%(551). Approximately 85% of patients had controlled hypertension. On categorization of anti hypertensive use into 3 categories;41.2%(491) were on monotherapy,32.2%(384) were on 2 drug therapy,26.5%(316) were on ≥3 drug therapy. Among those who were on monotherapy for HTN;34%(167) were on calcium channel blockers,30.10%(148) were on beta blockers, 22.80%(112) were on Angiotensin converting enzyme (ACE) inhibitors,12%(59) were on diuretics and 2.20%(11) were on Angiotensin receptor blockers(ARB). Use of combination antihypertensive therapy was significantly high in patients with ischemic heart disease(IHD)(p < 0.001). Use of diuretics was in 31% (369) patients. Use of diuretics was significantly less in patients with comorbids of diabetes (p 0.02), Chronic kidney disease(CKD)(p 0.003), IHD (p 0.001) respectively</p> <p>Conclusion</p> <p>Most patients presenting to our tertiary care center were on combination therapy. Calcium channel blocker is the most common anti hypertensive drug used as monotherapy and betablockers are used as the most common antihypertensive in combination. Only a third of patients were on diuretic as an antihypertensive therapy.</p

Association of respiratory symptoms and lung function with occupation in the multinational Burden of Obstructive Lung Disease (BOLD) study

Background Chronic obstructive pulmonary disease has been associated with exposures in the workplace. We aimed to assess the association of respiratory symptoms and lung function with occupation in the Burden of Obstructive Lung Disease study. Methods We analysed cross-sectional data from 28 823 adults (≥40 years) in 34 countries. We considered 11 occupations and grouped them by likelihood of exposure to organic dusts, inorganic dusts and fumes. The association of chronic cough, chronic phlegm, wheeze, dyspnoea, forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1)/FVC with occupation was assessed, per study site, using multivariable regression. These estimates were then meta-analysed. Sensitivity analyses explored differences between sexes and gross national income. Results Overall, working in settings with potentially high exposure to dusts or fumes was associated with respiratory symptoms but not lung function differences. The most common occupation was farming. Compared to people not working in any of the 11 considered occupations, those who were farmers for ≥20 years were more likely to have chronic cough (OR 1.52, 95% CI 1.19–1.94), wheeze (OR 1.37, 95% CI 1.16–1.63) and dyspnoea (OR 1.83, 95% CI 1.53–2.20), but not lower FVC (β=0.02 L, 95% CI −0.02–0.06 L) or lower FEV1/FVC (β=0.04%, 95% CI −0.49–0.58%). Some findings differed by sex and gross national income. Conclusion At a population level, the occupational exposures considered in this study do not appear to be major determinants of differences in lung function, although they are associated with more respiratory symptoms. Because not all work settings were included in this study, respiratory surveillance should still be encouraged among high-risk dusty and fume job workers, especially in low- and middle-income countries.publishedVersio

Exploring the Influence of Social Media Usage for Academic Purposes Using a Partial Least Squares Approach

Social media applications have been increasingly gaining significant attention from online education and training platforms. Social networking tools provide multiple advantages for communicating, exchanging opinions, and discussing specific issues. Social media also helps to improve the processes of teaching and learning through sharing educational programs. In this study, we used a quantitative research technique based on the partial least-squares (PLS) linear regression method to determine the influence of using social media as an online discussion and communication platform for academic purposes by assessing the relationships among the skills obtained through social media, the usage of social media, and the purpose of social media. A total of 200 students participated in this study (88% female and 12% males), and a purposive sampling technique was used to select a suitable population for the study. The results show that 61.5% of the participants use the web daily for more than five hours, mainly for social communication (meaningful dialog and discussion skills) and entertainment. The students agreed that social media develops their creative thinking, but it has no positive impact on their academic performance

Blasius–Rayleigh–Stokes Flow of Hybrid Nanomaterial Liquid Past a Stretching Surface with Generalized Fourier’s and Fick’s Law

The effect of Stefan blowing on the Cattaneo–Christov characteristics of the Blasius–Rayleigh–Stokes flow of self-motive Ag-MgO/water hybrid nanofluids, with convective boundary conditions and a microorganism density, are examined in this study. Further, the impact of the transitive magnetic field, ablation/accretion, melting heat, and viscous dissipation effects are also discussed. By performing appropriate transformations, the mathematical models are turned into a couple of self-similarity equations. The bvp4c approach is used to solve the modified similarity equations numerically. The fluid flow, microorganism density, energy, and mass transfer features are investigated for dissimilar values of different variables including magnetic parameter, volume fraction parameter, Stefan blowing parameter, thermal and concentration Biot number, Eckert number, thermal and concentration relaxation parameter, bio-convection Lewis parameter, and Peclet number, to obtain a better understanding of the problem. The liquid velocity is improved for higher values of the volume fraction parameter and magnetic characteristic, due to the retardation effect. Further, a higher value of the Stefan blowing parameter improves the liquid momentum and velocity boundary layer thickness

Flow Analysis of Hybridized Nanomaterial Liquid Flow in the Existence of Multiple Slips and Hall Current Effect over a Slendering Stretching Surface

Carbon nanotubes (CNTs) are favored materials in the manufacture of electrochemical devices because of their mechanical and chemical stability, good thermal and electrical conductivities, physiochemical consistency, and featherweight. With such intriguing carbon nanotubes properties in mind, the current research aims to investigate the flow of hybridized nano liquid containing MWCNTs (multi-wall carbon nanotubes) and SWCNTs (single-wall carbon nanotubes) across a slendering surface in the presence of a gyrotactic-microorganism. The temperature and solutal energy equation are modified with the impact of the modified Fourier and Fick’s law, binary chemical reaction, viscous dissipation, and joule heating. The slip conditions are imposed on the surface boundaries. The flow equations are converted into ODEs by applying similarity variables. The bvp4c approach is applied to tackle the coupled and extremely nonlinear boundary value problem. The outputs are compared with the PCM (Parametric continuation method) to ensure that the results are accurate. The influence of involved characteristics on energy distribution, velocity profiles, concentration, and microorganism field are presented graphically. It is noted that the stronger values of the wall thickness parameter and the Hartmann number produce a retardation effect; as a result, the fluid velocity declines for MWCNT and SWCNT hybrid nano liquid. Furthermore, the transport of the mass and heat rate improves with a higher amount of both the hybrid and simple nanofluids. The amount of local skin friction and the motile density of microorganisms are discussed and tabulated. Furthermore, the findings are validated by comparing them to the published literature, which is a notable feature of the present results. In this aspect, venerable stability has been accomplished

Flow Analysis of Hybridized Nanomaterial Liquid Flow in the Existence of Multiple Slips and Hall Current Effect over a Slendering Stretching Surface

Carbon nanotubes (CNTs) are favored materials in the manufacture of electrochemical devices because of their mechanical and chemical stability, good thermal and electrical conductivities, physiochemical consistency, and featherweight. With such intriguing carbon nanotubes properties in mind, the current research aims to investigate the flow of hybridized nano liquid containing MWCNTs (multi-wall carbon nanotubes) and SWCNTs (single-wall carbon nanotubes) across a slendering surface in the presence of a gyrotactic-microorganism. The temperature and solutal energy equation are modified with the impact of the modified Fourier and Fick&rsquo;s law, binary chemical reaction, viscous dissipation, and joule heating. The slip conditions are imposed on the surface boundaries. The flow equations are converted into ODEs by applying similarity variables. The bvp4c approach is applied to tackle the coupled and extremely nonlinear boundary value problem. The outputs are compared with the PCM (Parametric continuation method) to ensure that the results are accurate. The influence of involved characteristics on energy distribution, velocity profiles, concentration, and microorganism field are presented graphically. It is noted that the stronger values of the wall thickness parameter and the Hartmann number produce a retardation effect; as a result, the fluid velocity declines for MWCNT and SWCNT hybrid nano liquid. Furthermore, the transport of the mass and heat rate improves with a higher amount of both the hybrid and simple nanofluids. The amount of local skin friction and the motile density of microorganisms are discussed and tabulated. Furthermore, the findings are validated by comparing them to the published literature, which is a notable feature of the present results. In this aspect, venerable stability has been accomplished

Bone health status of Premenopausal healthy adult females in Pakistani females

Bone health status in healthy premenopausal females was assessed. We found high bone turnover in 36.8 % and vitamin D deficiency and insufficiency in 82.8 and 16.1 %, respectively, and secondary hyperparathyroidism in 25.9 % of the subjects. This is alarming as there is inability to achieve peak bone mass and predisposes to osteoporosis risk. Purpose: This study aimed to assess bone health status in healthy females by using biochemical markers of bone metabolism in blood [N-telopeptide of type I collagen (NTx), 25-hydroxyvitamin D (25OHD), and plasma intact parathyroid hormone (iPTH)]. Material and methods: One hundred and seventy-four healthy premenopausal female volunteers were recruited from an urban residential area in Karachi. Demographic details were collected on a preformed questionnaire. Blood samples for the estimation of serum NTx, 25OHD, and plasma iPTH were taken in a fasting state. Data were analyzed using Statistical Package for Social Sciences 16.0. A p value of \u3c0.05 was considered as significant. Results: High bone turnover, as depicted by NTx, was seen in 36.8 % cases. Vitamin D deficiency, insufficiency, and sufficiency were seen in 82.8, 16.1, and 1.1 % respectively. Secondary hyperparathyroidism was present in 25.9 % of the subjects, while others had blunted PTH response. Significant correlates of bone health were serum 25OHD levels, duration of sun exposure, and the practice of wearing veil (p value \u3c 0.001). Conclusion: 56++56+Bone turnover is high with high prevalence of vitamin D deficiency in apparently healthy premenopausal females predisposing them to higher risk for development of osteoporosis