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   Table of Contents - Current issue
January-June 2019
Volume 10 | Issue 1
Page Nos. 1-102

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Microbial symbiosis influencing the quality of life in health and disease Highly accessed article p. 1
Arun H S. Kumar
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Impact of probiotics on health-related quality of life in Type II diabetes mellitus: A randomized single-blind, placebo-controlled study Highly accessed article p. 2
Rajesh Venkataraman, Princy Jose, Juwal Jose
Objective: The objective of this study is to analyze the impact of probiotics on health-related quality of life (HRQOL) of type 2 diabetes mellitus (T2DM) patients. Materials and Methods: This was a prospective, interventional single-blind, randomized study; a total of 80 T2DM patients were randomized as single blinded into two groups: interventional group consuming pre and probiotic capsules and control group consuming placebo capsules capsules; the study was conducted for a duration of 3 months, and the readings were recorded at 0, 6, and 12 weeks from all participants for the analysis of HRQOL. Results: Seventy-five participants out of 80 completed the study. Glucose markers such as fasting blood sugar (P = 0.42), postprandial blood sugar (P = 0.60), homeostatic model assessment-insulin resistance (P = 0.20), and serum insulin (P = 0.22) had shown beneficial effect on HRQOL of the T2DM patients. The influence of gender on HRQOL was not noteworthy (P = 0.68), whereas age had shown significant influence on HRQOL of the patients (P = 0.02) with the use of probiotics. Conclusion: The results of study had shown important improvement in HRQOL of the T2DM patients with the use of probiotics in the interventional group compared to the control group.
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Development of a bait carrier material for apple snail (Pomacea maculata) based on its feed preferences using snail attractant tracking device p. 8
Guruswamy Prabhakaran, Subhash Janardhan Bhore, Manikam Ravichandran
Background: Synthetic molluscicides are routinely used in the control of apple snails (Pomacea spp of Ampullariidae family), the invasive rice pest. Molluscicidal bait is a strategic combination of food and toxicant to attract the target pests. However, baits are found to be feed deterrent due to snails' own feed preferences in a paddy field. There is no specific feed formulation exclusively developed as the base carrier material for the development of molluscicidal bait for the apple snail (Pomacea maculata Perry). Further, there are limitations in evaluating the efficacy of a snail feed/bait formulation based on its attractiveness, palatability, and directional movement of snails with the existing experimental devices. Therefore, this study was aimed to develop an attractive and appetent feed formulation as a bait carrier material and also to design and develop a snail attractant tracking device (SATD) for evaluating the feed formulation precisely. Materials and Methods: Snails were collected from the snail-infested rice field located in Kedah, Malaysia. A glass aquarium tank of size 60 cm × 30 cm × 30 cm was physically partitioned to form four linear channels (tracks) using 5-mm thickness transparent perflex plastic sheets to develop SATD and snail feed formulations were evaluated with the help of it. Results: This study resulted in the development and evaluation of attractant feed formulations prepared with a combination of different types of carbohydrates and protein hydrolysates. Analysis of variance showed significant differences (P < 0.05) in the attraction and consumption of various types of feed formulations by the snails. Conclusion: The rice flour supplemented with 5% sugar, 15% wheat flour, and 0.5% fish meal showed a maximum attraction and effective consumption by snails (1.48 g/3 h) than the other tested feeds.
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Swallowing thin liquids from the rim of the cup and through the straw in healthy geriatrics p. 16
Thejaswi Dodderi, Nidhi D Karkera, Neeraja Sunil
Context: Literature suggests geriatrics with swallowing difficulty to use straw as a compensatory strategy to drink thin liquids. However, in India, drinking through the straw is traditionally not etiquette of dining and in our observation this practice is changing. Aim: This study aimed to measure the swallowing of thin liquids through the straw in healthy elderly adults (HEAs). Settings and Design: A crossover comparative design with nonrandom sampling was adopted. Subjects and Methods: Fifty volunteers (25 healthy young adults [HYAs] and 25 HEAs) consumed 100 ml lukewarm water from two medium: (a) rim of the cup and (b) through the straw, across four different straw capacities. Swallowing performance was measured by volume/swallow, time/swallow, and swallow capacity. Statistical Analysis Used: Descriptive statistics along with repeated measures analysis of variance (ANOVA) and multivariate ANOVA test were administered on the data. Results: Results revealed HYAs swallowing from rim of the cup to be better than elderly participants that yielded increased volume/swallow. Likewise, in through the straw condition, healthy elderly participants had better swallowing performance. The study also highlights an inverse relationship between straw length and volume. Conclusions: The conclusion drawn is using straw results in decreased swallowing performance and this can be an effective strategy to improve thin liquid swallowing in healthy elders.
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Overexpression of renal proapoptotic factors is attenuated subsequent to endurance exercise in Type I diabetes: An immunohistochemistry study p. 24
Nour S Erekat, Rawan A Rababa'h, Muhammed D Al-Jarrah
Background: Upregulation of Apoptotic markers (p53 and active caspase-3) is reported in diabetic nephropathy. Exercise training is reported to exert renoprotective effects in diabetes. This study correlated the effects of endurance exercise training on the renal expression of p53 and active caspase-3 in a rat model of Type 1 diabetes. Materials and methods: Thirty healthy Sprague-Dawley rats were randomly divided into the following three groups: sedentary control (SC), sedentary diabetic (SD) rats, and exercised diabetic (ED) rats. The drug alloxan was administered to SD and ED groups of rats in order to induce diabetes mellitus. Expression of p53 and active caspase-3 in the renal tissue from each of the three different groups was investigated by immunohistochemistry. Increased blood levels compared to control group of rats validated the onset of diabetes in rats from SD and ED groups. Results: Significantly (P < 0.05) higher renal p53 and active caspase-3 expression was observed in SD versus SC group. Blood glucose levels and the expression of both p53 and active caspase-3 in the diabetic renal tissue were significantly reduced following endurance exercise training. Conclusion: This study attributes the renoprotective effects of endurance exercise training in diabetes to reduction in blood glucose levels and/or suppression of proapoptotic factors in the kidney.
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Evaluation of osteoporosis among medical and paramedical staffs in a tertiary health-care hospital in India p. 29
Vetrivel Chezian Sengodan, Marimuthu Sivagnanam, Nandakumar Thiagarajan, Surendar Vellaiyan
Background: Osteoporosis is a silent, underdiagnosed disease, which is characterized by low bone mass leading to increased susceptibility to fractures. Screening for osteoporosis is not routinely done despite growing awareness of this condition and its complications. Routine screening practices can help early detection and treatment. Materials and Methods: The objective of this study was to measure the bone mineral density (BMD) of health-care professionals (doctors and nurses) using calcaneal ultrasound heel bone densitometer. This was a cross-sectional study conducted in a tertiary care hospital involving 863 individuals. BMD was measured using calcaneal quantitative ultrasonography and T-scores were calculated. Results: The overall prevalence of osteoporosis and osteopenia among men and women was similar in our study. Nearly 50% of staff nurses were found to be below normal as per T-scores. Among doctors, contrasting popular belief, the prevalence of osteoporosis was higher in males than in females. Conclusion: This study indicates that medical professionals are equally at risk of osteoporosis as the normal population and should be targeted for routine screening and preventive interventions to curtail osteoporosis and its complications.
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Phenotypic detection and molecular characterization of vancomycin-resistant enterococci p. 34
Vishal C Shete, Naveen Grover, Mahadevan Kumar, Puneet Bhatt
Background: The emergence of resistance among enterococci threatens to make vancomycin obsolete in the treatment of infections caused by these bacteria. Resistance is observed most commonly in Enterococcus faecium, which is often resistant to aminoglycosides and β-lactams and to a lesser extent in other Enterococcus species, including Enterococcus faecalis. Aim: The aim of this study is to estimate the prevalence of vancomycin-resistant enterococci and study types of glycopeptide resistance genes. Materials and Methods: A total of 100 nonrepeat isolates of enterococci from various clinical samples were analyzed. As per the Clinical and Laboratory Standards Institute guidelines enterococci were screened for vancomycin resistance by Kirby–Bauer disc diffusion method. The minimum inhibitory concentration of all isolates for vancomycin was determined by Epsilometer test. Multiplex polymerase chain reaction (PCR) was carried out for vancomycin-resistance enterococcal isolates using six sets of primers to identify van genes responsible for resistance. Results: Twelve percent isolates were found to be vancomycin resistant. By multiplex PCR 100% vancomycin-resistant isolates carried vanA gene. However, vanB, vanC, vanD, vanE, vanG genes which encode other resistance ligase were not detected. Amplicons were sent for sequencing and the sequence received showed 100% identity with vanA gene. Conclusion: The prevalence of vancomycin resistance among enterococci isolates in this study was 12%. Multiplex PCR can detect van genes with high sensitivity and specificity responsible for vancomycin resistance. Treating serious infections caused by vancomycin-resistant enterococci has emerged as one of the leading clinical challenges for physicians because of limited therapeutic options.
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Studies on phytoconstituents, in vitro antioxidant, antibacterial, antiparasitic, antimicrobial, and anticancer potential of medicinal plant Lasiosiphon eriocephalus decne (Family: Thymelaeaceae) p. 38
Pratik P Durgawale, Madhavi N Patil, Shreepad A Joshi, Kalpita S Korabu, Kailas D Datkhile
Background: The present study has been undertaken with an objective to determine the antioxidant, antimicrobial, antiparasitic, and cytotoxic activity of endangered medicinal plant Lasiosiphon eriocephalus. Materials and Methods: Aqueous, methanol, and ethanol extracts of leaves, stem bark, and flowers of the selected medicinal plant were screened for the presence of phenolics, tannins, and flavonoids. In vitro antioxidant activity was evaluated by 1,1-diphenyl-2-picryl hydrazine and 2,2'-azinobis-(3-ethylbenzthiazoline-6-sulfonic acid) assay. The antiparasitic activity of extracts was tested against protozoan endoparasite Leishmania donovani, and antimicrobial activity plant extracts were determined against Klebsiella pneumonia, Escherichia coli, Pseudomonas aeruginosa, and Staphylococcus aureus. The anticancer properties of plant extracts were studied by cytotoxicity on cancer cells including HeLa and MCF-7 determined by MTT assay and DNA fragmentation assay. Results: The extracts screened for phytochemical analysis was found to contain phenolics, tannins, and flavonoids. The water and solvent extracts of leaves, and flowers had shown strong antioxidant activity in vitro. The leaves and flower extract showed the ability to inhibit the growth of both Gram-positive as well as Gram-negative bacteria. The results also showed increased antimicrobial and antiparasitic activities of ethanol extracts of flowers then leaves and followed by bark. The present study revealed that the treatment of crude extract of leaves as well as stem bark of L. eriocephalus exhibited strong cytotoxic activity against tested cancer cell lines. Conclusion: These results indicated that the possible secondary metabolites from the crude extract of L. eriocephalous plant have a potential as antioxidant, antiparasitic, antibacterial, and cytotoxic agent against cancer cells. However, further study needs to be carried out to understand the detailed molecular mechanism involved in the inhibition of cell proliferation and induction of apoptosis in response to phytoconstituents derived from L. eriocephalus.
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Prevalence of pulmonary hypertension in indonesian patients with stable chronic obstructive pulmonary disease p. 48
Harry Akza Putrawan, Budhi Antariksa, Faisal Yunus, Muhammad Abbas Basalamah, Fariz Nurwidya
Background: Pulmonary hypertension (HT) is a common comorbidity and implicated in the cardiac-related mortality in chronic obstructive pulmonary disease (COPD) patients. Echocardiography provides accurate and rapid information to detect pulmonary HT. The prevalence of HT among Indonesian patients with COPD, however, remains unclear. The aim of this study is to elucidate the prevalence of pulmonary HT based on echocardiography findings in stable COPD Indonesian patients at the Persahabatan Hospital, Jakarta, Indonesia. Methods: This is a cross-sectional study among stable COPD patients who visit COPD Outpatient Clinics in Persahabatan Hospital, Jakarta, Indonesia, from January to June 2017. Medical history interview, physical examination, spirometry, and echocardiography were performed to all participants who meet the criteria. Results: A total of seventy subjects with COPD performed echocardiography with a mean age of 65.68 ± 7.65 years old. Most of subjects were men (95.7%). There were 30% participants with pulmonary HT and 8.6% participants with right ventricle dilatation. Statistical analysis revealed a significant association between pulmonary HT and forced expiratory volume in 1 s (FEV1) <30% and body mass index (BMI). Conclusion: Pulmonary HT is frequent in Indonesian patients with COPD and is associated with severe airway obstruction as well as reduced BMI; therefore, pulmonary HT should be well managed in a holistic manner to prevent the deteriorating conditions.
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Comparison of tuberculin skin test and interferon-gamma release assay in the diagnosis of latent tuberculosis infection among indonesian health-care workers p. 53
Ratnawati , Erlina Burhan, Cempaka Nova Intani, Heni Handayani, Fariz Nurwidya
Background: Health-care workers are groups that are close contact with tuberculosis (TB) patients. As an alternative to the tuberculin skin test (TST), there is interferon-gamma release assay (IGRA) for the diagnosis of latent TB infection (LTBI). The objective of this study is to compare TST and IGRA in the diagnosis of LTBI among Indonesian health-care workers. Methods: This study design was a cross-sectional study. TST results are consistent for LTBI if there is induration ≥10 mm in individuals without previous TST, or ≥15 mm in participants with a history of previous TST. Medical history interview, physical examination, chest X-ray, and sputum smear examination were performed to exclude active TB infection. Results: Among 84 healthcare workers, the prevalence of LTBI was 51.2% by IGRA and 29.8% by TST with sufficient agreement (κ = 0.34). Age and low education were significantly correlated with the positive results of IGRA (P < 0.05); meanwhile smoking status was correlated with TST (P < 0.05). Conclusion: The prevalence of LTBI is higher with IGRA as compared to TST, with sufficient agreement and there is significant correlation between age and low education with the results of IGRA and in smoking status with TST.
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Clinical and coronary angiographic profile in women presenting with anginal chest pain: Results from a single-center prospective observational study p. 60
Kunal Mahajan, Arvind Kandoria, Rajeev Bhardwaj, Prakash Chand Negi, Sanjeev Asotra, Gunjan Gupta
Background: Limited data exist regarding the risk factor and angiographic profile of coronary artery disease (CAD) in Indian women presenting with anginal chest pain. Methods: In this single-center study, we prospectively analyzed data from 674 consecutive female patients who underwent coronary angiography for suspected CAD over a period of 2 years (2015–2017). Results: Patients were divided into three groups according to age as follows: Group 1 (<45 years), Group 2 (45–55 years), and Group 3 (>55 years). Women in Groups 2 and 3 were more likely to be smokers and were more likely to have diabetes, hypertension, and high-density lipoprotein-cholesterol <40 mg/dl. In contrast, younger women (Group 1) were more likely to have a positive family history of a premature CAD, Body mass index >23 Kg/m2, deranged Low density lipoprotein-cholesterol, and serum triglycerides. Obstructive CAD was seen more often in Group 3 patients (67.6%) compared to Group 2 (45%) and Group 1 (40.4%) (P < 0.0001). Normal epicardial coronaries/nonobstructive CAD and endothelial dysfunction were seen more commonly in Group 1 patients in comparison to Group 2 and 3 patients. Conclusion: The present study provides the largest contemporary data from an Indian female cohort undergoing coronary angiography. As the age advances, there occurs an increase in the number of CAD risk factors as well as the angiographic extent of disease.
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Does tongue-hold maneuver affect respiratory–Swallowing coordination? Evidence from healthy adults p. 68
Radish Kumar Balasubramaniam, Sonia Babu, Malavika Anakkathil Anil, Aiswarya Liz Varghese, Zeba Raisa Hussain, Dasmine Fraclita Dsouza
Objective: Swallowing experts often implement techniques that alter the breath and swallowing mechanism. However, there is limited understanding regarding the effect of these techniques on the coordination of swallowing and respiration. Hence, the present study examined the respiratory–swallowing coordination in normal adults using tongue-hold maneuver. Materials and Methods: The study follows a cross-sectional study design, wherein 25 healthy individuals (8 males and 17 females) within the age range of 18–25 years performed 10 ml water swallow with and without tongue-hold maneuver. Nasal respiratory flow was recorded, and the duration of the swallow apnea and the phase of respiratory pattern were analyzed. Results: The results of paired t-test revealed a significant difference for the duration of swallow apnea with tongue-hold maneuver (mean = 0.782, standard deviation [SD] =0.329) when compared to swallow without tongue-hold maneuver (mean = 0.60972, SD = 0.188) at P < 0.05. Moreover, the phase of respiration bracketing the swallowing was predominantly expiration in both the swallows. Conclusion: The outcome of the study suggests that tongue-hold maneuver improves the duration of swallow apnea.
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Prevalence and clinical profile of angiographic coronary artery ectasia among North Indian population p. 72
Rasheed Ahmed, Gaurav Khandelwal, Agam Bansal, Anoop Jain, Krati Khandelwal, Rohit Singla
Background: Coronary artery ectasia (CAE) has been widely recognized as not so infrequent form of coronary artery disease. Few retrospective studies from the Indian subcontinent have reported its prevalence to be varying from 1.9% to 10%. No large-scale study has been done among North Indian population. Methods: A prospective analysis of all coronary angiograms performed at our catheterization laboratory, between June 2012 and February 2014, was done. CAE was defined and classified according to the Markis classification. For every patient included, epidemiological, clinical, and appropriate laboratory data were obtained. Results: One hundred and twenty-four out of 3,014 coronary angiograms (4.1%) showed CAE. Mean age of the study population was 55.5 years. About 86.3% were male, 50.8% were current smokers, 27.4% had hypertension, 16.1% had diabetes mellitus, and 32.3% had dyslipidemia. The most common clinical presentation was ST-segment elevation myocardial infarction, observed in 44.4% of cases. Right coronary artery (RCA) was the most frequent coronary artery to be involved. Markis Class 3 was the most frequent pattern of CAE observed. Conclusion: The prevalence of coronary ectasia among North Indian patients undergoing coronary angiography was 4.1%. Of them, 16.9% angiograms showed isolated CAE. RCA was the most common affected vessel (58.1%). Large-sized studies to delineate treatment for this common entity are needed.
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Screening for mild cognitive impairment among noncommunicable disease patients attending a rural primary health center in Puducherry, South India p. 77
Yuvaraj Krishnamoorthy, Gokul Sarveswaran, Manikandanesan Sakthivel, Tanveer Rehman, Marie Gilbert Majella, S Ganesh Kumar
Background: Cognitive impairment among noncommunicable disease (NCD) patients causes significant burden to the patients and families by increasing the dependency level and risk of developing Alzheimer's disease in the future. Hence, the current study was done to screen for mild cognitive impairment among NCD patients attending rural primary health center in Puducherry. Materials and Methods: A facility-based cross-sectional study was done among 260 NCD patients attending rural health center of tertiary care center in Puducherry from February to March 2018. Information regarding sociodemographic and behavioral characteristics was done using semi-structured questionnaire, and cognitive function was screened using mini-mental status examination tool. Results: Among the 260 participants, majority were females (66.2%) and belonged to elderly age group (42.7%). About 44% of the participants did not have any formal education and almost three-fourths (70%) were unemployed. The most common NCD was hypertension (71.2%), followed by diabetes (56.2%) and bronchial asthma (15%). Proportion of cognitive impairment was 10.8% (95% confidence interval: 7.4–15.0). Cognitive impairment was three times more prevalent among elderly participants (prevalence ratio [PR] – 3.35, P = 0.002) when compared to the age group of <60 years. Similarly, the proportion of participants with cognitive impairment was twice among uneducated (PR – 2.34, P = 0.02) compared to the literate participants. Conclusion: The current study found that one in ten NCD patients has mild cognitive impairment. The elderly and illiterates were found to have more risk of cognitive dysfunction. Hence, opportunistic screening for cognitive dysfunction needs to be done at the primary health-care level.
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Clinical and epidemiological profile of patients with cleft lip and palate anomaly: 10-year experience from a tertiary care center in the sub-himalayan state of Himachal Pradesh in Northern India p. 82
Vijay Kumar Diwana, Gunjan Gupta, Rajesh Chauhan, Kunal Mahajan, Aditi Mahajan, Ranjan Gupta, Kanika Mahajan
Background: There are no descriptive epidemiological data available from the state of Himachal Pradesh, India quantifying the problem of orofacial clefts. The present study aims at providing the baseline data from a tertiary care center in the state, on which future population studies can be conducted. Methods: We retrospectively analyzed the clinical and epidemiological data of 926 consecutive patients of oral clefts who underwent surgical repair at our institute over a 10-year period (2007–2016). Results: Out of a total of 926 patients, 507 (54.8%) were males and 419 (45.2%) were females with a male to female ratio of 1.2:1. Cleft lip with palate (CLP) was the most common type of orofacial cleft (486; 52.5%). It was more common among males (56.1% vs. 48.2%, P = 0.01) compared to cleft palate which was more common among females (21.5% vs. 32%, P < 0.002). Overall, unilateral clefts were more common than bilateral clefts (504 vs. 179, P < 0.0002), with left side being affected more commonly (324 vs. 180, P < 0.0002). Craniofacial anomalies were the most commonly reported associated defects. Only 231 (24.9%) patients were operated within the infancy period. The average age at the time of lip repair was 2.8 years, while for palatoplasty, it was 6 years. Conclusions: Orofacial clefts showed a male predominance, high unilateral:bilateral and left:right ratios, and CLP as the most common variety. Very few patients with cleft lip and palate underwent surgery at the recommended age. There is a need to strengthen the existing health-care infrastructure and knowledge to improve the scenario.
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Routine screening of renal function before intravenous contrast examination: Is this required in the Indian scenario? p. 87
Onkar B Auti, KV Manoj, Vellaichamy M Annapandian, DG Santosh Kumar, K Murugan, GA Karthik, Venkatraman Bhat, Vimal Raj
Background: Serum creatinine (SC) levels are routinely obtained before administering intravenous contrast agents to assess the risk of developing contrast-induced nephropathy (CIN). We reviewed the renal profile of Indian patients attending our department to assess if SC levels are routinely required and the importance of calculating estimated glomerular filtration rate (eGFR). Materials and Methods: We prospectively analyzed 785 consecutive outpatients attending our department for cross-sectional examination. Multiple standard parameters were considered as risk factors for developing CIN. SC and eGFR values were obtained in patients sent for contrast examination. Results: A total of 234 (30%) patients were above 55 years of age; 122 (15.5%) had diabetes, of these 18 (15%) were on insulin. We found 167 (21.2%) patients with hypertension and 33 (4.2%) with known renal/cardiac diseases. Abnormal SC was found in 20 (3.9%) patients, and all these patients had at least one risk factor. No patient without any risk factor had abnormal SC. Based on eGFR, 204 (40%) patients had Stage 2, 46 (9%) patients had Stage 3, and 7 (1%) patients had Stage 4 renal dysfunction. Majority of patients (71%) with Stage 3 renal disease showed normal SC values. Only one patient under the age of 50 years without any risk factors had Stage 3 renal disease. Conclusion: Hypertension, diabetes, and advanced age are common risk factors for CIN in Indian population. Majority of patients with Stage 3 renal dysfunction have normal SC. Based on the study, we recommend measurement of SC/eGFR before giving intravenous contrast only in patients over the age of 50 years or those with known risk factors for CIN.
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Emphasizing the importance of sexual healthcare among middle and old age groups: A high time to re-think? p. 91
Patrice A Rabathaly, Vijay Kumar Chattu
Our sexuality and sexual health is affected by physiological-, pharmacological-, psychosocial-, and illness-related changes as we age. Physiological changes in men can cause less firm erections due to narrowing of the arteries that supply blood to the penis, and in women, the vagina can become shorter, narrower, and less lubricated. Pharmacological and medical interventions may affect libido in both men and women by decreasing overall sexual desire resulting in a diminished interest in sex over time. Illnesses more prevalent among middle-aged and older adults including diabetes can also influence sexual function, such as increased erectile dysfunction among men and lack of sexual arousal in women. Societal changes, including increased rates of divorce, use of the internet to find sexual partners, suggest that older populations are also at risk of sexually transmitted infections (STIs). Even though the World Health Organization's definition of sexual health contains no age limits, most sexual health policies, services, and interventions target people from adolescence to early childbearing years. Many people continue to be sexually active in later years, yet health promotion and services target the young (under 25 years), with little opportunity for prevention, treatment, or positive sexual health promotion in over 45 s. Sexual dysfunction, STIs are an increasing public health issue among middle-aged and older adults but are not considered a priority for surveillance in sexual healthcare. This review aims to examine how sexual health is affected by aging and why sexual health among people aged 45 years and above is of public health importance.
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The frequency and spectrum of HBB gene mutation in β-Thalassemia patients in Saudi Arabia p. 97
Raniah S Alotibi, Eman Alharbi, Bushra Aljuhani, Bdoor Alamri, Mohieldin Elsayid, Naif M Alhawiti, Fazal Hussain, Fahad Almohareb, Cherry Colcol, Shoeb Qureshi
Background: β-thalassemia is an autosomal disorder of the blood caused by mutations in HBB gene responsible for the production of β-globin. The HBB mutations reduce the synthesis of β-globin which results in severe anemia. A high frequency of β-thalassemia is reported in Saudi Arabia, and hence this study assessed the most frequent β-thalassemia mutations in Saudi Arabia. Materials and Methods: Data of preimplantation genetic diagnosis and gene sequencing for 59 β-thalassemia patients and carriers were collected from the electronic medical record system at KFSH and RC and were analyzed using SPSS version 19. Results: Twelve mutations were confirmed in the five regions investigated in this study. Cd39 was identified as the most frequent mutation with a frequency of 22.7%, with high prevalence in the central parts of Saudi Arabia. IVS-II-1 G > A was the second frequent mutation observed with a frequency of 21.2%, while IVS-I-1 (G-A) and IVS I-130G>C mutations were observed to be least frequent in the study. Of the 12 gene mutations, 85% were frequently observed in Saudi Arabia, while 15% were less frequent. The regional distribution of HBB gene mutations varied considerably. Conclusion: The population diversity in Saudi Arabia contributes to the variability in the prevalence rates of HBB gene mutations. Nevertheless, this study identifies Cd39 and IVS-II-1 G > A as the predominant mutations in HBB gene in Saudi Arabia.
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