Dietary patterns of Pakistani adults and their associations with sociodemographic characteristics-a community based study.

OBJECTIVE: To identify the dietary patterns and understand their association with sociodemographic characteristics among adults. METHODS: The community-based cross-sectional study was conducted in Islamabad, Lahore, Karachi, Peshawar and Quetta cities of Pakistan from March to November 2018, after approval from the National Bioethics Committee, Islamabad, and comprised adults of either gender. Data was collected using the food frequency questionnaire, and dietary patterns were identified using factor analysis. Multivariate regression analysis was used to assess the association of socio-demographic determinants with dietary patterns. Data was analysed using SPSS 21. Parallel Analysis criterion (Eigen values) was determined along with Monte Carlo simulation. RESULTS: Of the 448 subjects, 206(46%) were males and 242(54%) were females. The largest age group was 36-55 years 199(47.4%). Six dietary patterns were identified: "Vegetables", "Fruits", "Mixed Junk and Processed food", "Dairy and Fast food", "Discretionary" and "Fish". Regression analysis showed that those aged 36-55 years had higher scores for vegetables, fruit and fish pattern (p<0.05). Females scored more for vegetables, fish and fruits, and a significantly low score for discretionary diet pattern (p<0.05). Participants with high education level and socioeconomic status had raised scores for discretionary diet items (p<0.05). CONCLUSIONS: Six distinct dietary patterns among Pakistani adults were identified, showing significant association with sociodemographic characteristics.

Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.

BACKGROUND: Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinical characteristics, diagnosis and treatments are available but a comprehensive list of genetic variants, is lacking. Therefore this study was designed to collect all the causal variants involved in MODY, reported to date. METHODS: We searched PubMed from its date of inception to December 2019. The search terms we used included disease names and name of all the known genes involved. The ClinVar database was also searched for causal variants in the known 14 MODY genes. RESULTS: The record revealed 1647 studies and among them, 326 studies were accessed for full-text. Finally, 239 studies were included, as per our inclusion criteria. A total of 1017 variants were identified through literature review and 74 unpublished variants from Clinvar database. The gene most commonly affected was GCK, followed by HNF1a. The traditional Sanger sequencing was used in 76 % of the cases and 65 % of the studies were conducted in last 10 years. Variants from countries like Jordan, Oman and Tunisia reported that the MODY types prevalent worldwide were not common in their countries. CONCLUSIONS: We expect that this paper will help clinicians interpret MODY genetics results with greater confidence. Discrepancies in certain middle-eastern countries need to be investigated as other genes or factors, like consanguinity may be involved in developing diabetes.

Burden of Tobacco in Pakistan: Findings From Global Adult Tobacco Survey 2014.

Introduction: The Global Adult Tobacco Survey (GATS) is the global standard for systematically monitoring adult tobacco use and tracking key tobacco control indicators. Methods: Using a multistage stratified cluster design, 9856 households were sampled, and one individual was randomly selected from each household. Standard GATS questionnaire was used to collect information on tobacco use, cessation, second-hand smoke, knowledge, attitudes, and perceptions. Data were analyzed per standard GATS protocol. Results: Of 9856 individuals, 7831 individuals completed the interview. The response rate was 81%. Overall, 19.1% adults were currently using tobacco products and among them, 12.4% smoked tobacco, and 7.7% smokeless tobacco. Exposure to second-hand smoke was seen in 86% in a restaurant while it was 76% on public transportation. A total of 24.7% smokers made a quit attempt in the past 12 months. Anticigarette smoking information was observed by 37.7% adults, while 29.7% current smokers thought about quitting after reading health warning labels on cigarette packages. Most (85%) adults favored no smoking in public places, and 74.8% favored increasing taxes on tobacco products. Current cigarette smokers spent Pakistani Rupees 767.3 per month (7.78 USD) on manufactured cigarettes and consumed 4500 cigarette sticks (225 packs) annually. Conclusions: Besides 19.1% tobacco users, the majority (86%) were exposed to second-hand smoke at public places indicating that ban on tobacco use in public places is not being followed. A quarter of current smokers wants to quit smoking who may be provided assistance to reduce tobacco burden. Implications: This study provides national-level data about tobacco use and its burden and also indicates weak implantation of tobacco control laws. There is need to devise a strategy for proper implementation of these laws to reduce the tobacco burden in the country.

Comparison of Tobacco Consumption among Adults in SAARC Countries (Pakistan, India and Bangladesh).

OBJECTIVE: To compare the findings of Global adult tobacco surveys (GATS) conducted in SAARC Countries. METHODS: The national representative data from Pakistan, India, and Bangladesh was used as GATS was done in these three countries of SAARC. The key variables were selected where information was consistently taken like current smokers, smokeless tobacco users, exposure to second-hand smoke, advise by health care provider to quit, monthly expenditure and noticing of health warning label and other information related to daily tobacco users (smoke, smokeless) mean age of initiation and mean number of cigarettes consumed per day were also collected. Chi-square test was applied and p-value was considered significant at <0.05. RESULTS: Overall tobacco consumption was significantly high (43.3%) in Bangladesh (Pakistan 19.1% and India 34.6%). Similarly, current smokers were significantly more in Bangladesh 23% (India 14% and Pakistan 12%) and smokeless tobacco was significantly more in Bangladesh 27.2% (India 25.9% and Pakistan 7.7%). Exposure to second-hand smoke at work was 69.1% in Pakistan (63% in Bangladesh and 29.9% in India). Monthly expenditure on cigarettes was also high in Pakistan 7.51 USD (India 6.26 USD and Bangladesh 4.57USD). Mean age of initiation was 18.8 years in Bangladesh, (17.8 India and 18.7 Pakistan). Mean number of cigarettes consumed was significantly high in Pakistan i.e. 13.6 (6.2 in India and 5.1 Bangladesh). CONCLUSIONS: All the three South Asian countries have a high prevalence of tobacco consumption. Tobacco use was high in Bangladesh but smokeless tobacco among males was high in India and mean number of cigarettes daily was high in Pakistan.

Prevalence of Smokeless Tobacco Use in Pakistan: Insight from the Global Adult Tobacco Survey Pakistan (GATS Pakistan-2014).

OBJECTIVE: Prevalence of tobacco consumption is increasing including both smoked and smokeless tobacco. The objective of this paper is to highlight the prevalence of smokeless tobacco use, its demographic trends as well as socioeconomic determinants based on Global Adult Tobacco Survey 2014 (GATS) -Pakistan. METHODS: Secondary analysis of GATS data was done which was a nationally representative survey, conducted among non-institutionalized males and females aged 15 years and above. The survey included a total of 9,856 households which were selected using multistage stratified cluster sampling technique. RESULTS: Secondary analysis of GATS data revealed that 8.6% of the Pakistani population was current users of smokeless tobacco; among them, 8.0% were daily users and 0.6% were less than daily users. Prevalence of SLT use was higher in males (13.7%) compared to females (3.9%) (p = 0.000). Mean age of male users was 39.96±14.43 years and of females was 47.71±16.21 (p=0.000). Males (3.959 95% CI = 3.291-4.764) and respondents with primary or less education (2.216 95%CI = 1.841-2.668) were at higher odds of SLT use prevalence. Among daily users, Naswar was the preferred (71.8%) SLT product in males, compared to females (p = 0.000). Whereas, in females, use of Paan with tobacco (26.4%) (P = 0.000) and Naas (20.9%) (P = 0.000) was more common compared to males. Among SLT users, 71.1% participants used to spend 1-100 Rs (0.0095-0.95USD) per week on purchase of SLT products. However 28.9% were spending more than one dollar on the purchase of SLT products including 19.1% who were spending Rs 101-200 (0.96-1.9USD) followed by 7.2% spending Rs 201-300 (1.91-2.85 USD) and 2.6% spending Rs. >300 (>2.85 USD). CONCLUSIONS: Males and less educated individuals should be targeted with behavioral interventions for control of SLT use. Males started SLT use at an earlier age compared to females which can result in premature morbidity and mortality in males. SLT products are cheaper compared to cigarettes, therefore, taxes need to be levied on SLT products.

Exposure of the Adult Pakistani Population to Second-Hand Smoke - An insight from Global Adult Tobacco Survey of Pakistan 2014.

OBJECTIVE: About one-third of the world population is exposed to second hand smoke (SHS) with estimated 600,000 annual deaths. The objective of this article is to determine the exposure of adult Pakistani population to SHS and its association with different demographic variables based on data of Global Adult Tobacco Survey (GATS) conducted in 2014 in Pakistan. METHODS: Secondary analysis of Global Adult Tobacco Survey (GATS) data was done which is a global standard used for systematically monitoring use of both smoked and smokeless tobacco products. GATS Pakistan was a nationally representative survey, conducted in all four provinces among adult males and females aged15 years and above. Using multistage stratified cluster sampling technique a total of 9,856 households were selected and finally 7,831 individuals were enrolled. RESULTS: At homes around 43.3% individuals were exposed to SHS. Univariate analysis revealed that overall males (Odds Ratio, OR: 1.17 CI: 1.04-1.30, p=0.006) and less educated (OR: 1.30, CI: 1.16-1.46, p=0.000) group were at higher odds of being exposed to SHS at homes. Over all exposure to second hand smoke at home was also significantly high among urban residents (p = 0.000). Among nonsmokers age group 15 -35 years (odds ratio, 1.24 CI:1.09-1.04, P=0.01) and less educated group (OR 1.24, CI: 1.09-1.40, p=0.001) were at higher odds of being exposed to SHS at home At indoor workplaces, overall 69.1% and among non-smokers, 65.3% individuals were exposed to SHS. Univariate analysis has shown that less educated group (OR: 1.525, CI: 1.012-2.298, p=0.043) was at higher odds of being exposed to SHS at indoor workplaces. Among various public places exposure of participants to SHS was highest (86%) at restaurants, followed by public transport (74%), marriage halls (65%), universities (46%), health care facilities (35%) and least at schools (20%).. CONCLUSIONS: Less educated males were more exposed to second-hand smoke both at work places and public places; therefore to start with interventions, work places and public places should be a priority as at home results could be confounded by self-smoking as well.

Determinants of Smoked Tobacco Consumption among Pakistani Adults: An Analysis from GATS Pakistan 2014.

OBJECTIVE: An in-depth analysis of GATS 2014 is performed to study the various demographic determinants of smoked tobacco consumption among Pakistani adults. METHODS: The Global Adult Tobacco Survey (GATS) is a standardized surveillance mechanism regarding monitoring of tobacco consumption globally, that uses three stage cluster random sampling technique to have a representative data. We performed the complex data set analysis using SPSS V 15. The associations were determined by carrying out univariate analysis, and determining chi squares for categorical variables. RESULTS: Overall current smoking prevalence was found to be 12.4%. The univariate analysis revealed male gender (OR: 14.1 CI= 11.2-17.7, p value 0.000), little or no education (OR: 1.4 CI=1.2-1.6, p-value 0.000), living in urban areas (OR: 0.7 CI= 0.6-0.8, p-value 0.000) and avoiding smoking attempts in young age till 25 years (OR: 0.2 CI= 0.1-0.2, p value 0.000) were determinants. Assosiation of demographic determinants with cessation behaviour showed that the health concern was the primary reason to ever stop smoking among both urban rural dwellers, educated and uneducated and respondents aged 25 years and above. Educational status, age of respondent and residence had almost no significant effect on cessation behaviour of smoked tobacco users. CONCLUSIONS: Males having low education and living in rural area puts an adult Pakistani at high risk of becoming the user of smoked tobacco. Health education involving primary health care providers particularly focusing on rural areas will reduce the prevalence of smoking.

Comparison of vitamin D levels with bone density, calcium, phosphate and alkaline phosphatase - an insight from major cities of Pakistan.

OBJECTIVE: To compare vitamin D levels with bone mineral density, serum calcium, phosphorous and alkaline phosphatase. METHODS: The cross-sectional multicentre study was conducted at Pakistan Health Research Council centres in Islamabad, Lahore, and Karachi,and comprised subjects coming for either vitamin D testing or bone mineral density examination. Information related to demography, height/weight, skin colour, smoking, use of sun screen, daily milk intake, sun exposure and exercise was taken along with biochemical tests like serum calcium and phosphorous, alkaline phosphatase, and 25 hydroxy vitamin D.Bone mineral density was done using dual-energy X-ray absorptiometry scan. SPSS 15.0 was used for data analysis. RESULTS: Of the 291 subjects, 100(34.3%) each were enrolled from Islamabad and Lahore, while 91 (31.2%) were from Karachi. Overall, 245(84%) had insufficient vitamin D which was significantly associated with age and dark skin colour (p<0.05 each). Besides, 137(48%) cases had a reduced bone density, and there was a significant difference between age groups, gender and skin colour (p<0.05 each).Vitamin D deficiency did not have any effect on bone mineral density (p>0.05) Serum calcium and phosphorus levels were also similar regardless of vitamin D level (p>0.05). CONCLUSIONS: Vitamin D deficiency did not have any direct impact on bone mineral density and serum calcium, phosphorous and alkaline phosphatase.

Prevalence of risk factors for noncommunicable diseases in adults: key findings from the Pakistan STEPS survey.

BACKGROUND: Pakistan lacks data on the prevalence of risk factors for common noncommunicable diseases (NCDs). OBJECTIVES: This study aimed to determine the prevalence of risk factors for NCDs among a population-based sample in Punjab and Sindh provinces, Pakistan. METHODS: This study was conducted in 2013-2014. The NCD risk factors examined were: current daily smoking, eating fewer than 5 servings of fruits/vegetable a day, low physical activity, overweight and obesity. A total of 7 710 households were selected and 1 adult was enrolled from each household. Data were collected using the WHO STEPS instrument (Step 1 and 2), and analysed according to the STEPS statistical plan. RESULTS: The prevalence of tobacco use was 19.7%. The majority of the respondents (96.5%) consumed fewer than 5 servings of fruits/vegetables a day, 41.5% had a low level of physical activity, 26.3% were overweight and 14.9% were obese. The prevalence of stage I and stage II hypertension, including those on medication, was 37% and 15.9% respectively. The prevalence of NCD risk factors differed significantly by sex and occupation (P = 0.0001) but not by age group (P = 0.118), level of education (P = 0.668) and province (P = 0.056). Only 0.6% of the sample had none of the 5 NCD risk factors while 40% had 3-5. CONCLUSION: The high prevalence of NCD risk factors in Punjab and Sindh provinces is of concern. Urgent public health interventions are needed to reduce them, especially in youth and young adults.

Economic burden of dengue in four major cities of Pakistan during 2011.

OBJECTIVE: To assess the economic burden of dengue infection by calculating cost per patient and disability adjusted life years lost. METHODS: The cross-sectional study was conducted in Islamabad, Lahore, Faisalabad and Karachi from July 2012 to March 2013. Residential addresses and telephonic numbers of dengue patients were taken from the records of Pakistan Institute of Medical Sciences, Islamabad, Mayo and Ganga Ram Hospital, Lahore, Civil Hospital, Karachi, and Allied Hospital, Faisalabad. A total of 250 dengue confirmed cases - 50 from each hospital - were randomly selected. Information regarding duration of illness and out-of-pocket expenses were collected to estimate the direct cost, while indirect cost (number of work days missed by the patient) was calculated from disability adjusted life years using Murray's formula. RESULTS: Overall, there were 162(65%) men and 88(35%) with a mean age of 30.4±13.5years. More than half 138(55%) were below 30 years of age. Socio-economically, 145(58%) belonged to low, 70(28%) middle and 35(14%) to high socioeconomic groups. Of the total, 210(84%) cases had dengue fever followed by 32(12.8%) dengue haemorrhagic fever and 8(3.2%) dengue shock syndrome cases. Average duration of illness was 32±7.1 days. Overall direct cost per patient was Rs.35,823 (US$358) and average pre-hospitalisation, hospitalisation and post-hospitalisation was Rs.6154, Rs.21,242 and Rs.8,427 respectively. The overall disability adjusted life years per million population was 133.76. CONCLUSIONS: Although the government had provided free treatment for dengue in public-sector hospitals, still patients had to pay Rs.21,242 during hospital stay, resulting in substantial burden which needs to be addressed.

Dengue knowledge and its management practices among physicians of major cities of Pakistan.

OBJECTIVE: To assess knowledge and practices related to dengue management among physicians. METHODS: The cross-sectional study was conducted at hospitals in Islamabad, Lahore, Faisalabad, Peshawar, Quetta and Karachi between June and December 2012Physicians from public and private sectors filled a self-administered questionnaire about dengue knowledge and its management practices. A maximum score of 100 was assigned to the knowledge portion. Data was analysed using SPSS 15. RESULTS: A total of 400 subjects participated in the study; 200(50%) each from public and private hospitals. Of them, 223(56%) were males; 268(67%) were in the 21-30 years age bracket. The highest score was recorded in Quetta 67 followed by 65 in Karachi, 62 in Lahore, Faisalabad, Peshawar and 59 in Islamabad. Of the total, 200 (50%) were not aware that leucopenia is a criterion for diagnosing probable dengue. Similarly 140 (35%) did not know the criteria for diagnosing dengue haemorrhagic fever and warning signs of severe dengue. Total of 204 (51%) were not aware of the criteria for discharging of the admitted cases. There was no significant difference between dengue knowledge of the physicians belonging to public and private sectors (p>0.05). CONCLUSIONS: Quite a large number of physicians lacked knowledge of probable diagnosis of dengue and appropriate time to discharge the patients.

Neurological disorders and disability in Pakistan: A cross-sectional multicenter study.

BACKGROUND/OBJECTIVE: The aim of this study is to identify frequencies of various neurological disorders (NDs) and associated disability in patients attending neurologic clinics in rural and urban centers in Pakistan. METHODS: This is an observational study conducted in 39 neurological centers in both rural and urban areas, public and private health sectors all over Pakistan. This study was conducted between august 2017 to December 2019. RESULTS: A total of 28,845 adults were enrolled. Mean age of the study participants was 46.2 ± 17.2 years, 15,252 (52.9%) were men and 13,593 (47.1%) were women. Most common comorbid medical condition was hypertension 7622(26.4%) followed by Diabetes 3409(11.8%). Among neurological diagnoses, vascular diseases (20%) were the most common followed by Headache disorders (18.6%), Epilepsy (12.5%), nerve and root diseases (12.4%), Psychiatric diseases (10%), Dementias (8%) and movement disorders (7.9%). Half of the patients 15,503(53.7%) had no neurological disability, while minor disability was present in 10,442(36.2%) of cases. Moderate to severe disability was present in 2876(10%) cases. Headache disorders, psychiatric diseases, muscle pain/muscle related disorders and demyelinating diseases were more common in women. Vascular diseases, movement disorders and Dementias were more common in 46 years and above age group whereas headache disorders, Epilepsy and Psychiatric disorders were more prevalent in <46 years age groups. CONCLUSION: Vascular diseases are the most common presentation of patients in neurology clinics followed by headache disorders and epilepsies. Minor disability was present in 36% while moderate to severe disability was present in 10% cases.

National Cancer Registry of Pakistan: First Comprehensive Report of Cancer Statistics 2015-2019.

OBJECTIVE: To compile a comprehensive national cancer registry report of Pakistan by merging and analysing cancer registration data received from major functional cancer registries in various parts of Pakistan. STUDY DESIGN: Observational study. Place and Duration of the Study: Health Research Institute (HRI), National Institutes of Health (NIH), Islamabad, from 2015-2019. METHODOLOGY: Data from major cancer registries which included 'Punjab Cancer Registry (PCR), 'Karachi Cancer Registry (KCR)', 'Pakistan Atomic Energy Commission (PAEC) Cancer Registry', Armed Forces Institute of Pathology (AFIP) Cancer Registry, Nishtar Medical University Hospital Multan (NMH), and Shifa International Hospital, Islamabad (SIH) registries were pooled, cleared, and analysed at HRI. RESULTS: A total of 269,707 cancer cases were analysed. Gender-wise 46.7% were males and 53.61% were females. As per province-wise distribution, 45.13% of cases were from Punjab, 26.83% from Sindh, 16.46% from Khyber Pakhtunkhwa (KP), and 3.52% from Baluchistan. Both genders combined, 'breast cancer' 57633 (21.4%) was the most common cancer. In males, the top-5 cancers in order of frequency/percenatages were 'oral' 14477 (11.6%), 'liver' 8398 (6.73%), colorectal 8024 (6.43%), 'lung' 7547 (6.05%) and 'prostate' 7322 (5.87% cancers). In females, causes of the top-5-cancers included 'breast' 56250 (38.8%), 'ovary' 8823 (6.09%), 'oral' 7195 (4.97%), 'cervix' 6043 (4.17%), and 'colorectal' 4860 (3.36%) cancers. In children 'Leukemia' 1626 (14.50%) and in adolescents 'Bone' 880 (14%) were the leading malignancies. CONCLUSION: Breast cancer is the most common cancer in females touching epidemic proportions while 'oral cancer' which is the leading cancer in males ranks third in frequency in females. Like 'oral cancer' which shows a strong correlation with chewing, other common cancers in Pakistan including liver cancer, lung cancer, and cervical cancer are also largely preventable as showed a strong correlation with hepatitis B and C, smoking, and high-risk human papillomavirus. KEY WORDS: National Cancer Registry, Health Research Institute - NIH, Islamabad, Pakistan.

Spectrum of Common Pediatric Neurological Disorders: A Cross-Sectional Study From Three Tertiary Care Centres Across Pakistan.

BACKGROUND: There is dearth of information on the spectrum of neurological disorders among children less than 18 years of age. The aim of this study is to identify the commonly presenting neurological disorders among children aged ≤ 18 years in Pakistan. METHODS: We conducted a cross-sectional study at three tertiary care hospitals in Pakistan. RESULTS: A total of 17,176 children were included in our study; 61.8% were boys and 38.2% females. The most commonly presenting neurological disorder was epilepsy (36%), followed by behavior disorders (16%) and cerebral palsy (10.5%). There was significant difference between children less than 5 years and greater than 5 years age groups, with less than 5 years age group showing higher prevalence for behavioral disorders (P < 0.001), cerebral palsy (P < 0.001), infections (P = 0.014), sequalae (P < 0.001), and developmental disorders (P < 0.001). Gender-wise distribution showed epilepsy to be the most common neurological disorder among both genders, with a significant difference being reported between gender and epilepsy (P = 0.009), headache disorders (P < 0.001), neuroinflammatory disorders (P = 0.025), neurocutaneous syndromes (P < 0.001), behavioral diseases (P < 0.001), cerebral palsy (P = 0.009), and movement disorders (P < 0.001). CONCLUSIONS: The result of this analysis helps to assess the commonly presenting neurological disorders in children. This study will help health care workers in resource-poor settings within Pakistan to be mindful of the common neurological disorders while diagnosing a child with neurological symptoms in an outpatient setting. Health care providers need to be trained to identify and treat these common conditions; however, there is still a dire need for more trained neurologists across the country.

Health research funding and its output in Pakistan.

BACKGROUND: Health research is very important for formulating evidence-based policies. AIMS: To assess the health research funding and its output in the last 5 fiscal years (2013/14 to 2018) in Pakistan. METHODS: Information about health research funding was retrieved from 3 major local agencies, the Higher Education Commission, the Pakistan Science Foundation and the Pakistan Health Research Council. Details of funding from international donors were retrieved and the number of publications was estimated from Pubmed and Pakmedinet. RESULTS: A total of 1261.6 million Pakistan rupees (Rs) (US$ 8.4 million) was spent on health research in the last 5 fiscal years, the majority from local donors (P < 0.02). Overall funding increased from Rs 104.7 million in 2013-2014 to Rs 349.8 million 2017-2018. In publications data, 24 796 original articles were published, including 16 137 Medline and 8659 non-Medline indexed. Overall there was a gradual increase in the number of publications per year, statistically significant for Medline indexed journals. Research funding had a strong correlation (Cronbach α=0.88) with publications. CONCLUSION: Health research funding directly affects health research output. The funding on health research should be considered an investment rather than expenditure.

Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.

BACKGROUND: Monogenic forms of diabetes (MFD) are single gene disorders. Their diagnosis is challenging, and symptoms overlap with type 1 and type 2 diabetes. AIM: To identify the genetic variants responsible for MFD in the Pakistani population and their frequencies. METHODS: A total of 184 patients suspected of having MFD were enrolled. The inclusion criterion was diabetes with onset below 25 years of age. Brief demographic and clinical information were taken from the participants. The maturity-onset diabetes of the young (MODY) probability score was calculated, and glutamate decarboxylase ELISA was performed. Antibody negative patients and features resembling MODY were selected (n = 28) for exome sequencing to identify the pathogenic variants. RESULTS: A total of eight missense novel or very low-frequency variants were identified in 7 patients. Three variants were found in genes for MODY, i.e. HNF1A (c.169C>A, p.Leu57Met), KLF11 (c.401G>C, p.Gly134Ala), and HNF1B (c.1058C>T, p.Ser353Leu). Five variants were found in genes other than the 14 known MODY genes, i.e. RFX6 (c.919G>A, p.Glu307Lys), WFS1 (c.478G>A, p.Glu160Lys) and WFS1 (c.517G>A, p.Glu173Lys), RFX6 (c.1212T>A, p.His404Gln) and ZBTB20 (c.1049G>A, p.Arg350His). CONCLUSION: The study showed wide spectrum of genetic variants potentially causing MFD in the Pakistani population. The MODY genes prevalent in European population (GCK, HNF1A, and HNF4a) were not found to be common in our population. Identification of novel variants will further help to understand the role of different genes causing the pathogenicity in MODY patient and their proper management and diagnosis.

Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection.

HYPOTHESIS: About 1% of patients clinically diagnosed as type 1 diabetes have non-autoimmune monogenic diabetes. The distinction has important therapeutic implications but, given the low prevalence and high cost of testing, selecting patients to test is important. We tested the hypothesis that low genetic risk for type 1 diabetes can substantially contribute to this selection. METHODS: As proof of principle, we examined by exome sequencing families with 2 or more children, recruited by the Type 1 Diabetes Genetics Consortium (T1DGC) and selected for negativity for 2 autoantibodies and absence of risk human leukocyte antigen haplotypes. RESULTS: We examined 46 families that met the criteria. Of the 17 with an affected parent, 7 (41.2%) had actionable monogenic variants. Of 29 families with no affected parent, 14 (48.3%) had such variants, including 5 with recessive pathogenic variants of WFS1 but no report of other features of Wolfram syndrome. Our approach diagnosed 55.8% of the estimated number of monogenic families in the entire T1DGC cohort, by sequencing only 11.1% of the autoantibody-negative ones. CONCLUSIONS: Our findings justify proceeding to large-scale prospective screening studies using markers of autoimmunity, even in the absence of an affected parent. We also confirm that nonsyndromic WFS1 variants are common among cases of monogenic diabetes misdiagnosed as type 1 diabetes.

Effect of COVID-19 lockdown on patients with chronic diseases.

BACKGROUND AND AIMS: We sought to measure the effect of lockdown, implemented to contain COVID-19 infection, on routine living and health of patients with chronic diseases and challenges faced by them. METHODS: A semi-structured online questionnaire was generated using "Google forms" and sent to the patients with chronic diseases using WhatsApp. Data were retrieved and analyzed using SPSS. RESULTS: Out of 181 participants, 98% reported effect of lockdown on their routine living while 45% reported an effect on their health. The key challenges due to lockdown were to do daily exercise, missed routine checkup/lab testing and daily health care. CONCLUSION: It is important to strategize the plan for patients with chronic diseases during pandemic or lockdown.

Asymptomatic dengue infection in adults of major cities of Pakistan.

OBJECTIVE: To determine the asymptomatic dengue infection in adults of Pakistani population. METHODS: This study was conducted in five major cities (Islamabad, Karachi, Lahore, Multan, and Peshawar) of Pakistan. A total of 5 230 adults aged 18 years and above without a history of dengue fever at any point in their life were enrolled from participating laboratories. Those who were confirmed for dengue previously were excluded. Of the total, 62.6% (n = 3 276) were male with an average age of 34.6 years. Participants were briefed about the objectives of the study, and written consent was obtained to perform dengue IgG test using enzyme linked immunosorbent assay. The brief information related to age, gender and area was also taken on proforma. RESULTS: Overall 32.3% (n = 1 691) was having asymptomatic dengue infection which was 67.5% (n = 756) in Karachi followed by 39.1% (n = 391) in Islamabad, 29.9% (n = 316) in Lahore and 21% (n = 228) in Peshawar and none from Multan. More males were affected with asymptomatic dengue infection than females. The asymptomatic dengue infection was significantly higher in different cities; however, there was no significant difference with respect to age groups. CONCLUSIONS: The asymptomatic dengue infection is higher in cities i.e. Karachi, Islamabad and Lahore which are at risk of developing secondary dengue infections. There is a need of awareness among the public about secondary dengue infection.