Challenging diagnosis of Wilson's disease: A case report.

Wilson's disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson's is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n's disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

The oracle study - fibromyalgia, prevalence and severity in the hospital setting in the Pakistani population.

OBJECTIVE: To assess the prevalence and severity of fibromyalgia in hospital-visiting patients. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from July, 2018, to January, 2019, and comprised patients aged 18-75 years of either gender. Demographic information, comorbidities and previous medications were recorded for each patient. The modified American College of Rheumatology preliminary diagnostic criteria 2010-11 for fibromyalgia diagnosis. If diagnosed, the fibromyalgia impact questionnaire was administered to assess its severity. Data was analysed using SPSS 25. RESULTS: Of the 750 hospital-visiting patients, fibromyalgia was diagnosed in 250(33.3%); 190(76%) of them being females (p<0.0001). Comorbidities, age and increased elevated body mass index were significantly associated with fibromyalgia. Severity was not influenced by comorbidities, marital status, education or economic status (p>0.05). Menarche at a later age and menstrual irregularity were associated with fibromyalgia severity (p<0.05). CONCLUSIONS: The hospital-based prevalence of fibromyalgia was found to be high, especially among females.

Wheat pill poisoning: complications and management.

Wheat pill (zinc or aluminium phosphide), also known as rice pill, is used as rodenticide in wheat and rice storage reservoirs. In developing countries such as Pakistan there has been an increase in the number of aluminium phosphide (wheat pill) poisoning with suicidal intent due to its easy accessibility. It has a high mortality rate, with no antidote available. A young female presented with classical signs and symptoms of wheat pill poisoning, although during her stay at the hospital she developed cardiac arrhythmias leading to shock, haematuria, pleural effusion, and hyperglycaemia due to acute pancreatitis. Due to the appropriate recognition and management of the complications, the patient was able to recuperate. Appropriate transfer to Intensive Care Unit and prompt recognition of complications can lead to good outcomes. We recommend that there should be a nationwide cognizance campaign regarding the lethal consequences of wheat pill consumption by humans and proper disposal of this deadly material.

Frequency and impact of individual symptoms on quality of life in dry eye disease in patients presenting to a tertiary care hospital.

OBJECTIVE: To assess the frequency of symptoms and impact on quality of life in individuals with dry eye disease. METHODS: The cross-sectional, study was conducted from December 2018 to June 2019 at the outpatient clinic of the Department of Ophthalmology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan, and comprised dry eye disease patients aged at least 13 years with ocular burning sensation, lacrimation, grittiness, photophobia, redness or itching. Tear Film Breakup time <10 sec and / or positive ocular surface staining >5 corneal spots, >9 conjunctival spots, lid margin staining ≥ 2mm in length were used to diagnose the disease. Data was collected using the Dry Eye Quality of Life Score questionnaire. Data was analysed using SPSS 25. RESULTS: of the 191 patients, 135(71%) were females and 56(29%) were males. The overall mean age was 39.8±16.6 years. Itching 155(81.2%), watering 151(79.1%) and burning 124(64.9%) were the most frequent symptoms, with watering (p<0.001) and photophobia (p=0.012) significantly impacting quality of life. CONCLUSIONS: The most common symptoms among patients of dry eye disease affecting their quality of life were itching, watering, burning, photophobia and low mood.

A cross sectional study to assess nasal carriage of methicillin resistant Staphylococcus aureus in healthcare professionals in a tertiary care hospital.

OBJECTIVE: To determine the nasal carriage of staphylococcus aureus and methicillin-resistant staphylococcus aureus among healthcare workers in a tertiary care setting. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from April to July 2018, and comprised healthcare workers at the institution. Nasal swabs were collected and cultured on Mannitol salt agar. Mannitol fermenting colonies which were gram-positive cocci, catalase-positive and coagulase-positive were identified as staphylococcus aureus. Antibiotic susceptibility test was performed by modified Kirby-Bauer disc diffusion method. Methicillin resistance was detected using cefoxitin disc diffusion method. Data was analysed using SPSS 23. RESULTS: Of the 210 nasal swabs, 52(24.76%) had a staphylococcus aureus growth, and of them, 15(7.1%) were methicillin-resistant. No association could be established with either any single category of healthcare worker or an inter-department variation (p>0.05). Likewise, there was no association with age, gender, duration of service, smoking, co-morbidities, use of antibiotics in the preceding six months, treating a patient with methicillin-resistant staphylococcus aureus in the preceding six months and hospitalisation in the preceding year (p>0.05). CONCLUSIONS: The frequency of nasal carriage of methicillin resistant staphylococcus aureus amongst healthcare workers was regardless of the nature of their professional engagement.

The association between ethnicity, environmental and lifestyle factors and chronic disease in the development of pseudoexfoliation syndrome.

OBJECTIVES: To determine the association between ethnicity, environmental factors, lifestyle factors, chronic diseases and pseudoexfoliation syndrome (PEX). METHODS: A case control study conducted at four major hospitals in Pakistan from January to November 2019, with 241 cases and 294 controls, aged ≥ 40 years, who were administered a questionnaire assessing demographics, lifestyle factors, chronic diseases and ethnicity. Multivariate binary logistic regression was applied to calculate the odds ratio between cases and controls. RESULTS: PEX was found to be positively associated with ethnicity (p<0.001), time spent outdoors (p<0.001), educational status (p<0.001), asthma (p<0.001), mean age (p<0.001), daily tea intake (p=0.003), weighted maximum temperature (p<0.001) and weighted mean temperature (p=0.004). Poor association was found with weighted latitude (p=0.526) and weighted minimum temperature (p=0.079). Odds ratios for patients with asthma (OR=7.366, regression coefficient=1.993, p<0.001) Pathan ethnicity (OR=1.616, regression coefficient=0.48, p=0.016) and mean weighted temperature (OR=0.907, regression coefficient-0.097, p=0 .000) were significant in diagnosed cases of PEX. CONCLUSION: Individuals with Pathan ethnicity and asthmatics should be made aware of the risk of developing PEX and the importance of periodic screening. Limiting exposure to sunlight and cold and reducing the intake of tea may help in reducing in the chances of developing PEX.

Pandemics of the past: A narrative review.

Infectious diseases resulting in epidemics and pandemics have moulded human history and continue to do so even today. Cholera, plague, human immunodeficiency virus (HIV), and influenza have been some of the most brutal killers. The advancement of medical science has helped us win the war against several of these deadly agents. However, despite all our efforts, new agents continue to emerge. Studying the pandemics of the past helps us respond better to those affecting the globe today. In this narrative review, we present the greatest pandemics of the past, and discuss how the lessons from history may aid us in preparing for the future.

DAR-GRACE: Diabetes and Ramadan: glycaemic control, physician counselling and patient practices -experience from a tertiary care hospital in Pakistan.

OBJECTIVE: To identify patient practices and knowledge pertaining to Ramadan fasting and to see whether physicians were providing adequate counselling and adjusting medications accordingly. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from June to August 2018, and comprised diabetic patients who fasted during Ramadan. A questionnaire was designed to assess patients' knowledge, risk category, pre-Ramadan counselling, medication adjustment, lifestyle changes, pre- and post- Ramadan glycated haemoglobin levels, and complications during Ramadan. Data was analysed using SPSS 23. RESULTS: Out of 272 diabetics, 176(64.7%) were females. Mean number of fasts kept were 22±10.61. Pre-Ramadan 120(44.1%) patients consulted their physicians and 105(87.5%) of them received relevant counselling. Medications were adjusted in only 30 (25%) such cases. Overall, 41(15.1%) patients were in the high risk category, while 109(40.1%) and 122(44.9%) were in the moderate and low-risk categories. During the month, 17(6.25%) were hospitalised due to diabetes-related complications. Glycated haemoglobin levels fell significantly (p<0.0001). CONCLUSIONS: Anomalous patient behaviours and suboptimal physician practices were noticed.

The ATONE study - assessment of diabetes knowledge in individuals with type 2 diabetes in the Pakistani population.

OBJECTIVE: To evaluate knowledge of diabetes using diabetes knowledge questionnaire in diabetic patients. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from October to December 2017, and comprised subjects aged >20 years with a diagnosis of type 2 diabetes. The modified version of diabetes knowledge questionnaire was used for data collection. It had 24 questions concerning patient's diabetes knowledge and self-care practices. One point was given for each correct answer. The highest achievable score was 24. A total score of ?12 was considered suggestive of adequate knowledge. SPSS 23 was used for data analysis. RESULTS: Of the 401 subjects, 175 (43.6%) were males and 226 (66.4%) were females. The overall mean age was 52.9 }12.3 years, and mean duration of diabetes was 7.95}6.7 years. The mean score on the questionnaire was 9.97}3.93. Only 135(33.7%) patients showed adequate knowledge of the disease. Factors having positive correlation with the score were patient's urban background, level of literacy and their socioeconomic status (p<0.05 each). The duration of diabetes and the control of diabetes had no influence on the scores (p>0.05 each). CONCLUSIONS: Knowledge about diabetes was found to be generally poor among diabetics.

Foot-care behaviour amongst diabetic patients attending a federal care hospital in Pakistan.

OBJECTIVE: To assess foot-care behaviour in diabetics attending a tertiary care hospital, and to see if there are any influencing factors. METHODS: The cross-sectional descriptive study was conducted from September to November 2017 at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, and comprised diabetes patients either admitted to the wards or attending the outpatient clinics. Foot-care behaviour was assessed through the validated Nottingham Assessment of Functional Foot-care scale. A score over 50 demonstrated adequate foot-care behaviour. The score was correlated with several variables. SPSS 23 was used for data analysis. RESULTS: Of the 400 individuals, 238(59.5%) were females and 162(40.5%) were males. The overall mean age was 52.71}11.84 years. Of the total, 228(57%) had never received any education on proper foot-care; 289(72.3%) had a scale score of less than or equal to 50. Urban or rural residence, monthly income, literacy level, family history of diabetes, and previous foot-care education provided by the healthcare provider were significant factors associated with good foot-care behaviour (p<0.05 each). CONCLUSIONS: A majority of the patients demonstrated inadequate foot-care behaviour..

Assessment of red cell distribution width, glycaemic control and diabetes related complications - the ARDENT Study.

OBJECTIVE: To assess the association of red cell distribution width with glycaemic control and the presence of complications in diabetes patients. METHODS: The cross-sectional study was done at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from September to November 2017, and comprised patients with type 2 diabetes. Clinical and demographical characteristics were documented and they were subjected to complete blood count, red cell distribution width, glycated haemoglobin, fasting and random blood glucose, lipid profile, urea and creatinine. The presence of complications were assessed during clinical examination. SPSS 20 was used for data analysis.. RESULTS: There were 349 patients with a mean age of 53.14±11.77 years. The mean duration of diabetes was 8.36±6.64 years and mean glycated haemoglobin was 9.05±1.93. Red cell distribution width was significantly associated with the duration of diabetes, hypertension, macrovascular and microvascular complications and extent of glycaemic control (p<0.0001 each). A statistically significant linear relationship was observed between red cell distribution width and the number of macrovascular and microvascular complications (p<0.0001) and glycated haemoglobin (p<0.0001). Mean red cell distribution width was 13.94±1.66, 14.72±1.38, and 15.76±1.55 for optimal control, borderline control and poor control respectively. This linear incremental pattern was statistic ally significant (p<0.0001). CONCLUSIONS: The linear association of red cell distribution width with glycated haemoglobin may enable its use as a measure of the extent of hyperglycaemia.

Effects of SLC22A2 (rs201919874) and SLC47A2 (rs138244461) genetic variants on Metformin Pharmacokinetics in Pakistani T2DM patients.

OBJECTIVE: To determine the frequencies of single nucleotide polymorphisms rs201919874 and rs138244461 in genes SLC22A2 and SLC47A2 respectively in Pakistani diabetes patients in order to characterise the genetic variants and determine their association with the pharmacokinetics of metformin. METHODS: The case-control study was conducted at the International Islamic University, Islamabad, Pakistan, from June 2016 to June 2017, and comprised genotypes of diabetic cases and matching controls which were determined following allele-specific polymerase chain reaction. Cases were further divided into Group A and Group B. The former consisted of diabetics who were on monotherapy of metformin, while the latter consisted of diabetics treated with a combination of metformin and sulfonylureas. In-silico analysis was performed to verify the effect of single nucleotide polymorphisms rs201919874 and rs138244461 on the structure of genes. Association was statistically determined using SPSS 18. RESULTS: Of the 1200 subjects, 800(66.6%) were cases and 400(33.3%) were controls. Among the cases, 400(50%) each were in Group A and Group B. Significant difference was observed in the distribution of rs201919874 between Group A and controls (p<0.05) and between Group B and controls (p<0.05) for heterozygous genotypic frequency and for allelic frequency. Conversely, statistically significant difference was observed in rs138244461 (p<0.05) for all genotypic and allelic frequencies. Genotypes were significantly associated with glycated haemoglobin, random and fasting glucose levels in Group A compared to Group B (p<0.05). In-silico analysis showed that both single nucleotide polymorphisms were expected to create significantly damaging structural changes in domains and helix (p<0.05 each). CONCLUSIONS: Both exonic single nucleotide polymorphisms were found to be associated with the pharmacokinetics of metformin.

The ADRIFT study - Assessing Diabetes Distress and its associated factors in the Pakistani population.

OBJECTIVE: To assess diabetes distress and its associated factors in Pakistani population.. METHODS: The cross-sectional study was conducted at Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from July to December 2017, and comprised patients of diabetes type 2. After noting down demographic and clinical parameters, diabetes distress of the subjects was measured by applying the 17-item diabetes distress scale which also assesses sub domains like emotional burden, physicianrelated distress, regimen-related distress and interpersonal distress. SPSS 20 was used to analyse data. RESULTS: There were 349 subjects with a mean age of 53.14±11.77 years, mean diabetes duration of 8.36±6.64 years and a mean glycated haemoglobin value of 9.05±1.93%. Mean overall diabetes distress score was 2.55±0.75, signifying moderate distress. Overall, prevalence of diabetes distress was found among 266(76.2%) subjects;164(47%) moderate and 102(29.2%) high level distress. Emotional burden was most substantially elevated, with 296(84.8%) patients reporting moderate to high levels. Total diabetes distress was significantly related to demographic background (p<0.0001), education level (p=0.015), monthly income, frequency of administration of medication, adherence to medical treatment (p<0.05), number of complications (p<0.05) and overall glycaemic control (p<0.001). CONCLUSIONS: Modifiable factors, such as frequency of medication and compliance to treatment, should be addressed with the aim of decreasing diabetes distress and improve glycaemic control..

Association of dyslipidaemia in patients with varying degrees of Vitamin D deficiency in the Asian population.

OBJECTIVE: To investigate the associations of dyslipidaemia with varying levels of 25 hydroxy vitamin D3 deficiency. METHODS: This cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from July 2016 to January 2017, and comprised patients having varying levels of 25 hydroxy vitamin D3 deficiency. Patients were stratified according to the severity of deficiency and had their serum fasting lipid profiles measured. SPSS 20 was used for data analysis. RESULTS: Of the 175 participants, 124(70.9%) were female and 51(29.1%) were male. The overall mean age of the patients was 47.7±12.2 years (range: 18-65 years). A very strong inverse correlation was found between vitamin D levels and low-density lipoprotein cholesterol (p<0.001) and a similar trend was obtained for vitamin D and total cholesterol (p<0.001). With regards to triglycerides, a modest inverse correlation was found (p=0.05). No significant association was documented between 25 hydroxy vitamin D3 levels and high-density lipoprotein cholesterol (p=0.3). CONCLUSIONS: An inversely proportional relationship was found between total cholesterol, low-density lipoprotein cholesterol and triglycerides against varying levels of vitamin D deficiency.

Evolving Spectrum of Dengue: A Two-Year Experience From a Tertiary Care Hospital in Pakistan.

OBJECTIVE: This study focused on examining the clinical manifestations, disease severity, and outcomes among cases of dengue fever (DF) confirmed through serological testing. The study specifically targeted individuals admitted to a tertiary care hospital in Islamabad, Pakistan. METHODOLOGY: This prospective observational study at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, tracked 1,003 patients from admission to discharge or death between August 2022 and November 2023. Patients were monitored, and admission criteria were established based on the identification of warning signs. The data collection process encompassed gathering demographic information, documenting clinical symptoms, and utilizing a severity classification system for the disease. Outcome measures comprised the duration of critical illness, length of hospital stay, overall outcomes (discharge or mortality), and the assessment of complications. The collected data were analyzed using IBM Statistical Package for the Social Sciences (SPSS) software version 22.0 (IBM Corp., Armonk, NY). RESULTS: Baseline characteristics revealed a male predominance (67.8%), with an average age of 35.77 years, and common comorbidities such as hypertension (9.3%) and diabetes mellitus (7.3%). Dengue fever was most prevalent among patients whose blood group was B+ (15.0%). Nonstructural protein 1 (NS1) was positive in 73.4% of the cases. Fever was the predominant complaint in 98.0% of instances. Common bleeding manifestations included epistaxis, gum bleeding, and hematemesis. About 52.20% of cases were observed to have severe thrombocytopenia at admission. Hospital-related aspects demonstrated a mean stay of 3.35 days, a critical phase lasting 1.68 days, and rare complications like expanded dengue syndrome (2.2%). Encouragingly, 98.9% of patients were discharged, 0.4% were shifted, and 0.7% succumbed to the disease. CONCLUSION: This study comprehensively analyzes the demographic and clinical aspects of DF, emphasizing a male predominance and the fact that fever was the most common presenting complaint. The duration of hospitalization revealed a brief mean stay, a short critical phase, and low complication rates, with a high discharge rate suggesting positive outcomes.

Extensively Drug-Resistant Enteric Fever In Children: Surging Threats Of Antimicrobial Resistance And Possible Solutions.

BACKGROUND: Enteric fever is an infectious disease caused by Salmonella enterica including Salmonella Typhi and Paratyphi A and is associated with potentially serious outcomes, especially in developing countries. The study was conducted with the aim to present the clinical features, laboratory characteristics and antibiotic susceptibility in patients with culture-proven extensively drug-resistant (XDR) enteric fever and to explore drug combinations as a possible solution for the growing problem of antimicrobial resistance. METHODS: This descriptive cross-sectional study was conducted in the Paediatric unit of Ayub teaching hospital. Patients admitted with culture-proven XDR enteric fever were included. Patient characteristics were documented on a predesigned proforma. Response to antimicrobial agents including ceftriaxone and levofloxacin, azithromycin and meropenem and meropenem alone was assessed. Data was entered and analyzed using SPSS version 26. RESULTS: A total of 53 patients participated in this study. The majority of patients 36 (67.9%) were male and above 5 years of age(n=38,71.7%). The mean age of the participants was 7.08±3.02 years. The major presenting features included fever, anorexia and pain abdomen in 53 (100%), 51 (96.2%) and 41 (77.4%) respectively. The mean duration of symptoms prior to hospitalization was 8.92±3.361 days. Of the total patients, 32(60.4%) responded to the initial therapy with ceftriaxone and levofloxacin, 11(20.8%) patients responded to meropenem alone and 10 (18.9%) patients responded to meropenem and azithromycin in combination. There was no statistically significant difference in mean duration to show response in patients receiving either of the treatments (p=0.484). CONCLUSIONS: Paediatric patients with XDR enteric fever mainly presented with fever, anorexia and pain abdomen and showed good response to therapy with the combination of ceftriaxone and levofloxacin inspite of the apparent resistance on blood culture and sensitivity.

Enteric Fever: Diagnostic Dilemma Encountered in Domperidone-Induced Neuroleptic Malignant Syndrome.

Enteric fever is a multisystem illness caused by Salmonella Typhi and Salmonella Paratyphi, and it is associated with a spectrum of conditions ranging from minor cases of diarrhea and low-grade fever to a potentially fatal illness that can lead to gastrointestinal (GI) perforation, hemorrhage, central nervous system (CNS) involvement. Neuroleptic malignant syndrome (NMS) is predominantly described as an idiosyncratic reaction to neuroleptic medications. However, it has also been associated with a variety of drugs that reduce dopaminergic activity. In this report, we present the case of a young woman who had enteric fever and was prescribed IV ceftriaxone and domperidone. She subsequently developed NMS secondary to domperidone. We highlight the challenges faced when dealing with two potentially lethal medical conditions presenting concurrently and their overlapping symptoms. The patient was treated for both of the conditions and recovered completely.

Pre-exposure Prophylaxis With Various Doses of Hydroxychloroquine Among Healthcare Personnel With High-Risk Exposure to COVID-19: A Randomized Controlled Trial.

Objective This trial aimed to evaluate the safety and efficacy of pre-exposure prophylaxis (PrEP) with various hydroxychloroquine (HCQ) doses against a placebo among healthcare personnel (HCP) with high-risk exposure to coronavirus disease 2019 (COVID 19). Methods A phase II, randomized, placebo-controlled trial was conducted including 200 subjects with no active or past severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (antibody testing and reverse transcription-polymerase chain reaction (RT-PCR) were taken at the time of enrollment). Subjects of experimental groups one to three received HCQ in various doses and the control group received a placebo. The study outcomes in terms of safety and efficacy were monitored. Participants exhibiting COVID-19 symptoms were tested for SARS-CoV-2 during the study and by the end of week 12 with RT-PCR or serology testing (COVID-19 IgM/IgG antibody testing). Results Out of the total participants, 146 reported exposure to a confirmed COVID-19 case in the first month, and 192 were exposed by week 12 of the study. Moreover, the precautionary use of personal protective equipment (PPE) significantly varied; initially more than 80% of the exposed HCPs were not ensuring PPE being used by the patients treated by them, which gradually developed over time. Mild treatment-related side effects were observed among the interventional and placebo arm patients. There was no significant clinical benefit of PrEP with HCQ as compared to placebo (p>0.05). Conclusion It is concluded that the PrEP HCQ does not significantly prevent COVID-19 among high-risk HCPs.

Evaluation of the rs3088442 G>A SLC22A3 Gene Polymorphism and the Role of microRNA 147 in Groups of Adult Pakistani Populations With Type 2 Diabetes in Response to Metformin.

OBJECTIVES: Type 2 diabetes is a complex genetic disorder, and a large number of genetic polymorphisms may be involved in its pathogenesis. Pharmacologically, type 2 diabetes can be treated with 9 different approved classes of drugs, but metformin is suggested as the first line of therapy, followed by sulfonylureas. METHODS: This was a case-control study consisting of 300 metformin responders and 300 metformin nonresponders in patients with type 2 diabetes and 300 healthy Pakistani subjects. Genotyping of the SLC22A3 G>A polymorphism was performed by allele-specific polymerase chain reaction (PCR) for microRNA 147 expression; real-time polymerase chain reaction was used, and expressional analysis of SLC22A3 was done by semiquantitative polymerase chain reaction. RESULTS: GA and AA genotypes were highly significantly associated with the drug treatments when compared with controls. A statistically significant difference was observed in the distribution of the SLC22A3 A allele between healthy subjects and patients with type 2 diabetes. When odds ratios were adjusted for glycated hemoglobin levels and postprandial and fasting blood glucose levels, our findings showed that the overexpression of allele A of the rs3088442 G>A variant may act as a protective allele and is associated with the clinical response to metformin. microRNA 147 expression was found to be increased in patients who were metformin responders compared with the nonresponder group and controls. mRNA expression of SLC22A3 was significantly reduced in patients taking metformin as compared to other groups. CONCLUSIONS: These results suggested that the SLC22A3 rs3088442 at position 2282 A allele may confer metformin clinical responses in patients with type 2 diabetes in the Pakistani population. Overexpression of microRNA 147 is associated with a downward expression of the SLC22A3 gene in patients who have type 2 diabetes.