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Objective: We assessed the effectiveness of oral Hydroxychloroquine (HC), Azithromycin (AZ) and Oseltamivir (OS), alone or combined, among patients hospitalized with mildly symptomatic coronavirus infectious disease (COVID-19). Methods: Following the approval of the National Bioethics Committee and prospective registration (clinicaltrials.gov NCT04338698), a multicenter randomized clinical trial of adaptive design was conducted at 10 multispecialty hospitals in Pakistan. Patients were randomized into seven treatment groups. Starting April 15, 2020, consenting, eligible, otherwise healthy adult patients or those with co-morbidities under control, were recruited if they presented with mildly symptomatic COVID-19 (scored 3 on a 7-point ordinal scale anchored between 1 = not hospitalized, able to undertake normal activities, to 7 = death) confirmed by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR). Two primary outcomes were assessed by day seven: Turning qRT-PCR negative; and clinical improvement of two points from the baseline. Outcome rates were compared using a chi-square test. Multiple imputations were applied to handle missing data. An interim data analysis was carried out on July 19, 2020, following which the study continued without treatment group changes. Data Safety and Monitoring Board advised to stop recruitment due to its futility on January 18, 2021. Results: Of 471 patients randomized, a total of 426 (90.4%) completed the follow-up for primary outcomes. Based on imputed data analyses at day seven: Total qRT-PCR negative cases were 137/471 (29%, 95% CI 25.0 - 33.4). By day seven, a total of 111/471 (23.5%, 95% CI 19.8 - 27.6) showed clinical improvement. No serious or non-serious adverse event was reported. Conclusions: Among patients with mild COVID-19, there was no statistically significant difference in the effectiveness of oral antimalarial, antiviral, or antibiotic treatments. [ABSTRACT FROM AUTHOR]

Objective: To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin. Methods: In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patients were diagnosed as suspected cases of LOC based on phenotypes including abnormal larynx, nails, and hyperpigmentation in patients' eyes. Genetic investigation was done by performing whole exome sequencing (WES) using DNA of the patients. Sanger sequencing was performed to validate WES findings and segregation analysis in the family. Results: Data analysis of exomes and Sanger sequencing of patients revealed a homozygous one base pair duplication (NM_000227.6; LAMA3; c.151dup; p.Val51GlyfsTer4) in LAMA3 in the patients. Parents of the patients were heterozygous for the identified variant. Conclusion: Previously, the same variant has been found in most of the Pakistani Punjabi patients affected with LOC. Therefore, Pakistani Punjabi families affected with Shabbir Syndrome may be screened for c.151dup variant in LAMA3 using targeted sequencing. Sanger sequencing is a cost-effective and time-saving technique as compared to whole exome/genome sequencing. Hence, developing ethnicity-specific LAMA3 targeted molecular diagnostic test would be cost-effective. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families. [ABSTRACT FROM AUTHOR]

Objective: To quantify the correlation between Glycated Haemoglobin, Serum Lipids and overweight/obese Type II patients with diabetes. Study Design: Cross-sectional study. Place and Duration of Study: Department of Internal Medicine and Endocrinology/Diabetology, PIMS (FMTI), Islamabad Pakistan, from Jul 2020 to Dec 2020. Methodology: The study population comprised of severely overweight and obese patients of diabetes. Their laboratory investigations for lipid profile and HbA1c levels were measured. Correlation coefficients between lipid profile, HbA1c levels and obesity were computed. Results: In this study, 112 patients of diabetes were included in the study. The mean age of patients was 48.2±3.4 years, and females were slightly greater (29,51.8%). The average BMI level was 31.98±3.32kg/m2. HbA1c was found to be positively correlated with total cholesterol (r= 0.702, p-value, <0.001) and BMI (r= 0.231, p-value, 0.054) and negatively correlated with HDL levels (r=-0.372, p-value, 0.005) in the study patients. HDL was also negatively correlated with BMI levels (r=-0.314, p-value 0.01). Conclusion: HbA1c was positively correlated with BMI and total cholesterol in patients with diabetes. Moreover, HDL significantly negatively correlated with obesity and HbA1c [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the quality of sleep in patients hospitalised with coronavirus disease-2019, and its impact on hospitalisation duration, need for intensive care unit admission and mortality., Methods: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from May 2, 2021 to April 30, 2022, and comprised hospitalised coronavirus disease-2019 patients. Data was gathered using the Pittsburgh Sleep Quality Index questionnaire, including demographics, comorbidities, length of hospital stay, need for intensive care unit admission, C-reactive protein and D-dimer values at admission, and the outcome. The patients were divided into group A having good sleep quality score >5 and group B having poor sleep quality score <5. Data was analysed using SPSS 25., Results: Of the 1,250 patients, 559(44.7%) were males and 691(55.3%) were females. There were 560(44.8%) patients in group A with mean age 53.80±14.85 years, and 690(55.2%) patients in group B with mean age 53.71±14.32 years. There were no significant intergroup differences in terms of age and high-resolution computed tomography scan (p>0.05). The difference was significant with respect to gender, comorbid conditions, education status as well C-reactive protein and D-dimer levels (p<0.001). Group B patients had a longer duration of hospitalisation (p<0.001) and a higher need for intensive care unit admission (p<0.001) compared to group A. The outcome was death in 166(13.28%) patients in group B compared to 40(3.2%) in group A (p<0.001)., Conclusions: Poor sleep quality was found to be associated with longer hospital stay, increased need for mechanical ventilation, and higher mortality rate in coronavirus disease-2019 patients.

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.

Background: Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene., Objective: The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers., Methods: In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers., Results: The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost., Study Limitation: Gene expression studies are absent that would have strengthened the findings of computational analysis., Conclusion: The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families., (Copyright © 2023 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. All rights reserved.)

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.

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.

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.

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.

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.

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.

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..

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..