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Background: Methylmalonic acidemia (MMA), type mut (0) is a rare type of genetic inborn error of metabolism (IEM) that is caused by aberrant malonyl-CoA mutase activity. Diagnosing IEM can be challenging due to its inherited onset and varying degrees of severity. Methods and results: In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing. A biallelic variant c.689 C > G (p.Thr230Arg) in MMUT was identified to be the causative factor of the disease, which helped in establishing the accurate diagnosis in the family to be MMA mut(0) type. On the basis of the genetic findings, the patient's condition was appropriately managed through a supportive nutrition plan and administration of oral L-carnitine. Conclusions: Identification of MMUT mutation through whole exome sequencing was helpful in solving the family and devising targeted management strategies. This study highlights the utility of genetic analysis in diagnosing and treating metabolic disorders like MMA in Pakistani inbred population. Highlights: In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing. A biallelic variant c.689 C > G (p.Thr230Arg) in MMUT was identified to be the causative factor of the disease, which helped in establishing the accurate diagnosis in the family to be MMA mut(0) type. [ABSTRACT FROM AUTHOR]

Objectives: Pharmaceutical incentivisation of physicians for profit maximisation is a well-documented health system challenge. This study examined general practitioners' (GPs) reactions to pharmaceutical incentivisation offers in one region in Pakistan. Methods: We used the Standardised Pharmaceutical Sales Representative (SPSR) method and qualitative interviews with GPs. SPSRs were field researchers representing mock pharmaceutical companies who recorded their observations of 267 GPs' responses to pharmaceutical incentivisation offers. We triangulated SPSR data using qualitative interviews with a subset of the same GPs to gather information about how they interpreted different interaction outcomes. Results: We found four major outcomes for GPs being offered incentives by pharmaceutical companies for prescribing medications. GPs might agree to make incentivisation deals, reject incentivisation offers, disallow PSRs to access them, or remain indeterminate with no clear indication of acceptance or rejection of incentivisation offers. GPs rejecting SPSRs' incentivisation offers indicated having active commitments to other pharmaceutical companies, not being able to work with unheard-of companies, and asking SPSRs to return later. Conclusions: The GP-pharmaceutical sales representative interaction that centres on profit-maximisation is complex as offers to engage in prescribing for mutual financial benefit are not taken up immediately. The SPSR method helps understand the extent of distortion of practices impacted by incentivisation. Such an understanding can support the development of strategies to control unethical behaviours. [ABSTRACT FROM AUTHOR]

This study examines the complex relationship among brand association, image, loyalty, and attachment and perceived product quality. It also examines how brand likeability moderates this relationship. The study investigates these dynamics to determine how consumer-brand interactions affect product quality perceptions. Customers evaluate product quality beyond intrinsic qualities in competitive markets. Brand association, image, loyalty, and attachment form these values. Understudied is brand likeability's moderating role in these correlations. Analyzing consumerbrand interactions on product quality fills this gap. This study uses a quantitative-methods approach. A varied sample of 270 consumers is asked about brand association, image, loyalty, attachment, product quality, and likeability. Analysis of direct and moderated effects uses structural equation modeling (SEM). The study found that brand association, image, loyalty, and attachment significantly impact perceived product quality. Consumers with strong positive associations, a positive brand image, great brand loyalty, and a profound emotional commitment to a brand see its items as higher quality. In particular, brand likeability moderates these relationships. Brand likeability enhances the effects of brand association, image, loyalty, and attachment on product quality. Brand-related characteristics greatly influence customer product quality perceptions when they like a brand. This study provides valuable insights for brand managers and marketers. First, it stresses the necessity of positive brand associations, images, loyalty, and attachment to boost product quality. Second, brand likeability amplifies these brand variables. Brands should provide engaging, realistic, and emotionally appealing experiences to increase likeability. Understanding these relationships can help marketers brand and communicate products, influencing consumer quality perceptions. This study adds to marketing literature by analyzing how brand connection, image, loyalty, and attachment affect product quality. Brand likeability moderates consumer-brand interactions, revealing their complexity. This research helps brands and marketers improve branding and consumer interactions, enhancing product quality and brand success. [ABSTRACT FROM AUTHOR]

Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. Design: Retrospective observational study. Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results. Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis. Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan. [ABSTRACT FROM AUTHOR]

Introduction: Liver transplantation (LT) has emerged as a lifesaving modality for many liver diseases in children. Pediatric LT is an established treatment in the Western world but is relatively a new procedure in resource‐limited countries like Pakistan. The study aims to highlight the outcomes and survival of pediatric recipients from the first pediatric liver transplant center in Pakistan. Method: A retrospective analysis of pediatric LT was done from 2012 to 2019. The study was conducted in the Hepatobiliary and liver transplant department of Shifa International Hospital (SIH), Islamabad. A detailed analysis for indications for pediatric LT, survival, and complications was done. Results: Forty‐five patients under 18 years of age underwent Living donor liver transplant (LDLT) in SIH. Median age was 9 years and M:F of 2:1. Cryptogenic liver disease followed by Wilson disease were the two most common indications of LT. The majority of patients had chronic liver disease 34 (75%) while 11 (24%) had acute liver failure. The right lobe graft was the most common type of graft 19 (42.2%). Thirty days, 1‐year, 3‐year, and 5‐year survival was 77.8%, 75.6%, 73.3%, and 60.6% respectively. Mortality was highest in patients with biliary atresia 4 (33%). Causes of death included pulmonary embolism, sepsis, surgical complications, and acute kidney injury. Mean survival was 88.850 months (±7.899) (CI 73.369–104.331). Conclusion: Pediatric LDLT has offered disease‐free survival for patients. Survival can improve further with nutritional rehabilitation and anticipation and management of post‐operative complications. [ABSTRACT FROM AUTHOR]

Objectives: This study was done to compare the clinical features, laboratory findings and surgical outcomes of pediatric patients with choledochal cysts. Methods: Retrospective review of the hospital records of all pediatric patients admitted with choledochal cysts from 2011 to 2021 were collected and analyzed. Patients were divided into two groups; infant (less than one year age) and pediatric (1 to 16 years) for statistical comparison of two groups. Results: The study included 34 children, 9 (26.5%) were infant (<1 year) and 25 (73.5%) were more than one year old. Mean age at diagnosis was 15 months with age ranging from 14 days to 16 years. Females were 19 (55.9%) and males were 15 (44.1%). Type-I choledochal cyst was the most common (73.5%), presentation followed by Type-IVA (26.5%) in our patients. Patients from infant group presented with jaundice in 7 (77.7%), and clay-colored stool in 3 (33.3%) as the most common clinical features, while abdominal pain (88%), vomiting (72%), fever (32%) and pancreatitis (32%) were the frequent presentations among older age group. Post-surgical complications of excision of choledochal cyst were observed in 4 (11.7%) patients. Conclusion: Choledochal cysts have variable presentations depending upon age of the patients. Complete surgical excision of choledochal cyst is the treatment modality of choice and timely surgical management can prevent complications. [ABSTRACT FROM AUTHOR]

Background: Biliary atresia (BA) is the most common cause of neonatal cholestatic syndrome. The true incidence of BA in Pakistan is largely unknown. Aim: This study aimed to report the clinical features, age at diagnosis and outcomes of biliary atresia from the first pediatric liver transplant center in Pakistan. Methods: The study was done in Shifa International hospital from 2013 to 2020. All babies who had biliary atresia confirmed by laboratory investigation were included. Demographic data, age of presentation, clinical presentation, supporting investigations like liver function tests, ultrasound abdomen, HIDA scan and liver biopsy were noted. Outcome related to Kasai portoenterostomy, liver transplant, complications and immunosuppressant agents were noted. Result: A total of 42 children were included, 23 (54.7%) males and 19 (45.2%) were females. Jaundice was seen in all patients (100%) followed by acholic stools (81%). Associated malformations were noted in 6 (14.2%) patients. Liver function tests confirmed obstructive cholestasis (p 0.04). Kasai was done in 19 (45%) patients only, living donor liver transplant was performed in 6 (14%) patients. Age range of transplant patients was from 3 months to 1 year. Indication for liver transplant was failed Kasai in 1(16.7%) patient and chronic liver disease in 5 (83.3%) patients. LDLT survivors were 10 months to 1 year of age at the time of transplant, mean age was 10.6 months. Maximum survival noted so far is 7 years. Acute complications seen post‐transplant were sepsis (three patients), surgical site infections (two patients), biliary leaks and acute cellular rejection in one patient each. Chronic graft rejection, portal vein stricture needing stenting was done in one patient. Discussion: All patients underwent LDLT from related donors wih no donor related mortality. All are deceased patients were yonger and had advanced disease. BA remains third most commo indication of transplant in our center. Conclusion: Liver transplant is the only lifesaving procedure after failed Kasai or as primary liver transplant due to advance liver disease. The advent of liver transplantation services offers survival and improving outlook of the disease. [ABSTRACT FROM AUTHOR]

Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries. Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in the Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan. Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9–24) months. Mean age of presentation to endocrine department was 5.5 (1.5–11.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal/high 25(OH)D and tubular reabsorption of phosphate (TRP) <85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol. We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy. [ABSTRACT FROM AUTHOR]

Objectives: Cerebral palsy is a major cause of neurodisability in children in Pakistan. The study aims to evaluate the risk factors, types and neuroimaging findings in children with cerebral palsy. Methods: All children diagnosed with cerebral palsy, between 1-16 years presenting to Shifa community health center were enrolled from January 2020 to July 2021. Informed consent was taken from parents. Results: A total of 89 patients were included, 62 (69.7%) male and 27 (30.3%) females. Mean age was 4.4 ± 2.8 years. Majority of babies were born at term 74 (84%) and 15 were preterm (16%). Most of the patients were born in hospital 55 (62%), 13 (14%) were born at home. Mean birth weight was 2.3 ± 0.3. Consanguinity was present in 56 (62.9%). Birth asphyxia 38 (42.7%) was the most common cause of cerebral palsy. Maternal antenatal risk factors identified were anemia 13 (14.6%), PIH (9%) infections (6%) were significant risk factors (<0.05). Neuroimaging was done in 37 (38.7%) of the patients only. Conclusion: Male gender is more affected in our cohort. Maternal anemia, pregnancy induced hypertension and low birth weight are significant modifiable risk factors. Prevention of these can reduce the incidence of cerebral palsy. [ABSTRACT FROM AUTHOR]

Celiac disease (CD) is a chronic autoimmune condition with intestinal and extra-intestinal features. Extra intestinal features including hematological, neurological, and endocrine symptoms are seen more frequently in elder children. A 4 years 7 months old male child presented in clinic with history of abdominal pain and diarrhea on and off for 1 year. On examination, he was hemodynamically stable, pale, and malnourished with distended abdomen. He was investigated for CD, Anti TTG IgA <0.1 (positive >10), Anti TTG IgG 13 (positive >10). To confirm celiac disease, Esophagogastroduodenoscopy (EGD) was done which was consistent with diagnosis of Celiac disease (MARSH Type 3a). Gluten free diet was advised. Later, after 12 days he again presented with jaundice, fever, anorexia, and dark colored urine and irritability. He was admitted for fulminant hepatic failure, his workup revealed direct hyperbilirubenemia, ANA +ve, and hyper IgG. Liver biopsy confirmed autoimmune hepatitis. Further workup for anemia showed reticulocyte count 7.1, LDH 423, direct and indirect coombs test was positive confirming autoimmune hemolytic anemia. Child responded well to Azathioprine and prednisolone with clinical improvement. We report a rare presentation of celiac disease with polyautoimmunity in a young child. Case reports of autoimmune hepatitis with CD patients have been reported in adult patients. Association of celiac disease with autoimmune hemolytic anemia and autoimmune hepatitis is a distinct and rare condition. [ABSTRACT FROM AUTHOR]

Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading to increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines for the recognition and early diagnosis of rare dyslipidaemias are urgently required. Methods: Genomic DNA was isolated fromblood samples of a Pakistani paediatric patient with hypertriglyceridemia, and from his parents and siblings. Nextgeneration sequencing (NGS) was performed, and an expanded dyslipidaemia panel was employed for genetic analysis. Results: The NGS revealed the presence of a homozygous missense pathogenic variant c.230G>A (NM_178172.6) in exon 3 of the GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1) gene resulting in amino acid change p.Cys77Tyr (NP_835466.2). The patient was 5.5years old at the time of genetic diagnosis. The maximal total cholesterol and triglyceride levels were measured at the age of 10months (850.7mg/dl, 22.0mmol/L and 5,137 mg/dl, 58.0mmol/L, respectively). The patient had cholesterol deposits at the hard palate, eruptive xanthomas, lethargy, poor appetite, and mild splenomegaly. Both parents and sister were heterozygous for the familial variant in the GPIHBP1 gene. Moreover, in the systematic review, we present 62 patients with pathogenic variants in the GPIHBP1 gene and clinical findings, associated with hyperlipoproteinemia. Conclusion: In a child with severe hypertriglyceridemia, we identified a pathogenic variant in the GPIHBP1 gene causing hyperlipoproteinemia (type 1D). In cases of severe elevations of plasma cholesterol and/or triglycerides genetic testing for rare dyslipidaemias should be performed as soon as possible for optimal therapy and patient management. [ABSTRACT FROM AUTHOR]

Primary hypertriglyceridemia is a rare condition in children. Hypertriglyceridemia induced pancreatitis is most commonly reported in adults, accounting for third most common cause after gallstones and alcohol consumption. The study aims to highlight the frequency of hypertriglyceridemia induced pancreatitis in a cohort of children presenting in a tertiary care hospital. A retrospective review of paediatric patients with pancreatitis was conducted in Shifa International hospital, Islamabad, from 2013 to 2020. All patients under 18 years of age who fulfilled the inclusion criteria were included. Medical records of patients were checked for symptoms, signs, age, growth parameters and laboratory investigations. Patients who had HTG were reviewed in detail for family history of pancreatitis or dyslipidemias. We found a cohort of 6 patients with primary hypertriglyceridemia after excluding secondary causes. Out of these 6 patients, 4 (66.6%) were male and 2 (33.3%) were female. Minimum age of our patient was 2 months and maximum was 17 years with a mean age of 6.5 years. Two patients presented less than one year of age. Mean triglyceride levels was 1,599 + 523 mg/dL. Four patients (66.6%) had acute pancreatitis, one each (16.6%) had recurrent and chronic pancreatitis. Family history was positive for hyperlipidaemia in two patients who had positive consanguinity. Patients with positive family history were symptomatic at earlier age. This is the first study to highlight primary hypertriglyceridemia presenting as pancreatitis in paediatric population from Pakistan. All patients had triglycerides level of greater than 1000 mg/dL. [ABSTRACT FROM AUTHOR]

The recent environmental challenges have brought significant changes in the consumption pattern of consumers. Collaborative consumption is one of the pro-environmental behavior which helps consumers to reduce their undesirable environmental impact. This study aims to study the impact of economic, social, and environmental factors on consumers’ attitude, intention, and behavior towards collaborative consumption in collectivist societies, by proposing a conceptual framework based on the theory of planned behavior. The data was collected online by using google form and a sample of 394 respondents was used for data analysis. The model was validated by using Structure Equation Modeling on AMOS 18. The study findings suggest that several economic, social, and environmental motives drive the consumer attitude, intention, and behavior toward collaborative consumption, except opportunity of earning and trend affinity. The result advocates that culture has a significant impact on consumers’ consumption patterns and consumers in collectivist societies behave significantly different from individualist society consumers in the collaborative consumption domain. The research findings provide a clear guideline to the marketers and policymakers to develop strategies for sustainable development in a collectivist society. [ABSTRACT FROM AUTHOR]

Background & Objectives: The novel coronavirus (SAR-CoV-2) pandemic has revolutionized medical education worldwide. Most medical schools have adopted the online teaching and assessments. Students attending modified clerkships and assessments under the stress of the pandemic, perform and score differently when compared to normal clerkships. We aimed to identify the impact of COVID-19 on final year MBBS students' EOC (End of Clerkship) examination by comparing them with their scores prior to the COVID and with scores of the previous final year. Methods: This cross-sectional study was conducted at Shifa College of Medicine. Final year MBBS students' scores of years 2019 and 2020 were included. Students' EOC MCQ and OSCE scores were compared in pre-COVID and COVID affected rotations of the same year and with the previous year (2019). Data were analyzed in SPSS version 21, means scores were calculated, and one-way ANOVA was applied. Pearson correlation was calculated for correlation assessment of MCQ and OSCE scores. Results: There were 118 students. The mean EOC, OSCE, and MCQ scores in rotations one to four were 72.8±6.4, 73.3±8.1, 71.6±7.4, 72.7±6.7 and 44.4±8, 47.2±8.4, 46.1±8.2, 48.8±8.1, respectively. Oneway ANOVA results before and after COVID lockdown were statistically insignificant (p=0.3) for OSCE and significant for MCQ in the final year class of 2020 (p=0.001). The Pearson correlation assessment between MCQ and OSCE scores (n=416) had a significant positive correlation (r=0.42, p=0.000). The overall comparison between scores of the final year class of 2019 and 2020 showed significant improvement in Surgery and Obstetrics/Gynae scores in 2020. Conclusion: During the COVID pandemic, the final year students' performance in EOC MCQ and OSCE over all remained unaffected. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to understand students' perception of the usefulness of end-of-clerkship (EOC) as compared to professional exam Objective Structured Clinical Examinations (OSCE) and to compare student performance in both examinations. Methods: We conducted a cross-sectional study of medical students who were studying in the final year at Shifa College of Medicine, Shifa Tameer-e-Millat University, and appeared in both end-of-clerkship and final professional exams. The study was conducted in October 2019. The data was collected through a self-constructed questionnaire. The scores of all participants were also recorded. The data obtained was analyzed on IBM's statistical package for the social sciences (SPSS) version 23 (IBM, Armonk, NY). Descriptive statistics were used for qualitative variables. Mean and standard deviation was calculated for quantitative variables. Chi-square test was also applied to assess for significant differences. Results: Out of 115 participants, 57 (49.6%) were males and 58 (50.4%) were females. Most of the participants (75.7%) agreed that both OSCEs were well-structured. Participants found that both the exams give a good cross-section of paediatrics and allowed them to learn something new (p=0.00). 45% of participants perceived that the end-of-clerkship OSCE exam helped in orienting them for the final professional exam by identifying their weaknesses. Conclusion: Although the EOC OSCE served as a good preparatory exercise, it did not alleviate the stress levels. However, the results in both OSCEs were comparable and students were satisfied with the current weightage of marks distribution. [ABSTRACT FROM AUTHOR]

Objectives: To determine etiologies, clinical presentations and outcomes of children with fulminant hepatic failure in the first liver transplant center of Pakistan. Methods: It was a retrospective, observational study, conducted in Paediatric Gastroenterology Department of Shifa International Hospital. Patients between one month to 16 years were included who fulfilled the Pediatric Acute Liver Failure study group (PALFSG) definition of acute liver failure as biochemical evidence of liver injury with no known co-existing chronic liver disease, coagulopathy not corrected by vitamin K, an International Normalized Ratio (INR) greater than 1.5 if the patient has encephalopathy, or greater than 2.0 if the patient does not have encephalopathy. The data collected was recorded on a self-constructed proforma after IRB approval. Results: There were 28 patients in the study which ncluded 17 males and 11 females with a mean age of 72.86±52.50 months. The most common etiologies were Hepatitis A (29%) in isolation or co-infection with Wilson Disease, typhoid fever. It was followed by seronegative hepatitis (29%). Majority (64%) had acute presentation (7 to 28 days), jaundice (82%) being the most common symptom. Severity of encephalopathy was significantly associated with outcome (p=0.02). There were 6 (21%) patients who succumbed to death. Conclusions: The study highlights infective diseases as the predominant etiology causing fulminant liver failure in children. Our study highlights lower mortality in children. [ABSTRACT FROM AUTHOR]

Introduction: Incentive-linked prescribing, which is when healthcare providers accept incentives from pharmaceutical companies for prescribing promoted medicines, is a form of bribery that harms patients and health systems globally. We developed a novel method using data collectors posing as pharmaceutical company sales representatives to evaluate private doctors' engagement in incentive-linked prescribing and the impact of a multifaceted educational intervention on reducing this practice in Karachi, Pakistan., Methods: We made a sampling frame of all doctors running for-profit, primary-care clinics and randomly allocated participants to control and intervention groups (1:1). The intervention group received a multifaceted seminar on ethical prescribing and reinforcement messages over 6 weeks. The control group attended a seminar without mention of ethical prescribing. The primary outcome was the proportion of participants agreeing to accept incentives in exchange for prescribing promoted medicines from data collectors posing as pharmaceutical company representatives, 3 months after the seminars., Results: We enrolled 419 of 440 eligible participants. Of 210 participants randomly allocated to the intervention group, 135 (64%) attended the intervention seminar and of 209 participants allocated to the control group, 132 (63%) attended the placebo seminar. The primary outcome was assessed in 130 (96%) and 124 (94%) of intervention and control participants, respectively. No participants detected the covert data collectors. 52 control group doctors (41.9%) agreed to accept incentives as compared with 42 intervention group doctors (32.3%). After adjusting for doctors' age, sex and clinic district, there was no evidence of the intervention's impact on the primary outcome (OR 0.70 [95% CI 0.40 to 1.20], p=0.192)., Conclusions: This first study to covertly assess deal-making between doctors and pharmaceutical company representatives demonstrated that the practice is strikingly widespread in the study setting and suggested that substantial reductions are unlikely to be achieved by educational interventions alone. Our novel method provides an opportunity to generate evidence on deal-making between doctors and pharmaceutical companies elsewhere., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Objective: To investigate private General Practitioners' (GPs) interest in continuous professional development (CPD), with a focus on ethical practices., Method: A mixed method study design conducted a cross-sectional survey of registered private GPs (n=419) in Karachi was conducted in the year 2022 on their professional and ethical practices with perspectives on engagement in training in the year 2022. Qualitative interviews were conducted with 28 GPs to get a deeper understanding of their views on professional development., Results: The median age of participants was 55 years (IQR 48-63 years) and 361 (86.2%) were males. The median number of years of professional experience was 31.0 years (IQR 24-37 years). It was observed that 116 (27.6%) of GPs saw more than 50 patients per day, and 377 (90%) met with pharmaceutical sales representative (PSR) regularly. Reported awareness of guidelines on ethical practices was 325 (77.6.0%), and willingness to sign a pledge committing to a code of ethics and to be part of a professional network of ethical doctors was high, 389 (~93.0%). However, both qualitative and quantitative data indicated that GPs had limited time for training, despite the interest in filling gaps in knowledge about ethical practice., Conclusions: Most GPs were willing to engage in CPD activities with a focus on ethics. Many GPs met regularly with PSRs, and CPD may reduce the pharmaceutical industry influence on their prescribing practices.

Objectives: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1 . It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries., Methods: Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in the Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan., Results: Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9-24) months. Mean age of presentation to endocrine department was 5.5 (1.5-11.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal/high 25(OH)D and tubular reabsorption of phosphate (TRP) <85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol., Conclusions: We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

Introduction: In settings where the private sector constitutes a larger part of the health system, profit-gathering can take primacy over patients' well-being. In their interactions with pharmaceutical companies, private general practitioners (GPs) can experience the conflict of interest (COI), a situation whereby the impartiality of GPs' professional decision making may be influenced by secondary interests such as financial gains from prescribing specific pharmaceutical brands., Methods and Analysis: This study is a randomised controlled trial to assess the impact of a multifaceted intervention on GPs' medical practice. The study sample consists of 419 registered GPs who own/work in private clinics and will be randomly assigned to intervention and control groups. The intervention group GPs will be exposed to emotive and educational seminars on medical ethics, whereas control group GPs will be given seminars on general medical topics. The primary outcome measure will be GPs' prescribing practices, whereas the secondary outcome measures will be their knowledge and attitudes regarding COI that arises from pharmaceutical incentivisation. In addition to a novel standardised pharmaceutical representatives (SPSR) method, in which field researchers will simulate pharmaceutical marketing with GPs, presurvey and postsurvey, and qualitative interviewing will be performed to collect data on GPs' knowledge, attitudes and practices in relation to COI linked with pharmaceutical incentives. Univariate and multivariate statistical analyses will be performed to measure a change in GPs' knowledge, attitudes and practices, while qualitative analysis will add to our understanding of the quantitative SPSR data., Ethics and Dissemination: Ethics approval has been obtained from the Pakistan National Bioethics Committee (# 4-87/NBC-582/21/1364), the Aga Khan University (# 2020-4759-1129) and the London School of Hygiene and Tropical Medicine (# 26506). We will release results within 6-9 months of the study's completion., Trial Registration Number: ISRCTN12294839., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.)

Objective: To study the role of vitamin D deficiency as a risk factor for myopia in children aged 5-15 years., Methods: The cross-sectional observational study was conducted from January to September 2019 at the Ophthalmology and Paediatric departments of Shifa Foundation Community Health Centre, Islamabad, Pakista. It comprised patients with suspected / symptomatic vitamin D deficiency who were enrolled from the paediatric outpatient department and referred to the ophthalmology clinics for eye exam. Apart from taking detailed ocular history, slit lamp examination, Snellen's distance visual acuity, auto-refraction to calculate spherical equivalent, and amplitude scan for measuring the axial length were performed. An average of 3 measurements was taken for both refraction and axial length calculation. Myopia was labelled if mean spherical equivalent was ≤0.25 dioptres. Vitamin D deficiency was defined as serum 25-hydroxyvitamin D level < 20ng/ml. Data was analysed using SPSS 23., Results: There were 72 subjects with a mean age of 10.11±2.69 years; 37(51.4%) boys and 35(48.6%) girls. Myopia was seen in 40(55.6%) patients, while 32(44.4%) were emmetropic. The overall mean vitamin D level was 20.25±12.18 ng/ml. There was no significant association between myopia and vitamin D deficiency (p=0.115). Significant associations were found between myopia and relatively older age (p=0.005), higher height (p=0.001), more weight (p=0.001) and higher body mass index value (p=0.008)., Conclusion: Low vitamin D levels were not significantly associated with myopia in children aged 5-15 years, but significant associations were found between myopia and relatively older age, and various anthropometric measures.

Objective: The aim of the study is to assess the impact of hypertensive disorders of pregnancy on stillbirths and other perinatal outcomes among women in Karachi, Pakistan., Methodology: This was a retrospective cohort study conducted at two tertiary care hospitals, Aga Khan Hospital (AKU) and Liaquat National Hospital (LNH) in Karachi, Pakistan. The primary outcome variable of this study was stillbirth. Other outcomes assessed in this study included preterm birth, low birth weight, and early neonatal death., Results: Data of a total of 840 women were included in this study; 280 (33.33%) women had hypertensive disorders of pregnancy and 560 (66.67%) were normotensive. Among women who had hypertensive disorders of pregnancy, the adjusted odds ratio (AOR) of having a stillbirth was two times more than that for normotensive women (AOR=2.62, 95% CI=1.46-4.40), four times for low birth weight (AOR=4.23, 95% CI=2.88-6.20), five times for early neonatal death (AOR=5.03, 95% CI=2.40-10.50) and six times for pre-term birth (AOR=5.16, 95% CI=3.42-7.79)., Conclusion: The current study found that incidence of stillbirth, low birth weight, pre-term birth, and neonatal mortality is higher in mothers with hypertensive disorders of pregnancy than normotensive mothers., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Basta et al.)

Introduction: Percutaneous nephrolithotomy (PCNL) has almost completely replaced open surgery for kidney stones because of continuous advancements in the method since the first PCNL was performed in 1976. The aim of this study is to compare the characteristics and outcomes of adult patients and pediatric patients who had undergone PCNL., Methodology: A retrospective study was conducted at the Sindh Institute of Urology and Transplantation (SIUT) Hospital in Karachi, Pakistan. It included the data of patients who underwent PCNL from January 2015 to January 2022 at the SIUT hospital. The primary outcome variable was the stone-free rate (SFR). Secondary outcomes included length of hospital stay, and complications were assessed using modified Clavien classification system Results: There is no significant difference in the SFR at discharge between pediatric and adult patients (86.67% vs 88.69%, p=0.634). There is no significant difference between the two groups in relation to the total length of hospital stay (p=0.446). Moreover, 12.50% and 11.11% of adults and children developed complications, respectively, after the procedure. The percentages are not significantly different between the two groups (p=0.266)., Conclusion: The current study using standardized and consistent PCNL techniques shows that SFR is similar in both adults and children, and there is no difference in complications between adults and children., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Rizwan Umer et al.)

Introduction: Sepsis is a life-threatening illness caused by the body's response to uncontrolled infection. Different studies have been conducted to identify risk factors associated with the diagnosis of sepsis and mortality, but there has been considerably less focus on mortality due to sepsis-induced blood pressure. The current study was conducted to determine the incidence of mortality within 30 days among patients with sepsis-induced blood pressure drop and its risk factors., Methodology: It was a retrospective study conducted at the Pakistan Navy Station (PNS) Shifa Hospital, Karachi, Pakistan. Data of all patients aged 18 years or more who visited PNS Shifa Hospital and were diagnosed with sepsis and blood pressure reduction from November 2019 to October 2021 were extracted from Hospital Management Information System (HMIS) and retrospectively analyzed Results: All variables significantly associated with 30-days mortality in multivariable logistic regression analysis, including disturbance of consciousness, cardiac insufficiency, respiratory failure, diabetes mellitus, creatinine level, and aspartate aminotransferase (AST) level, were risk factors for mortality in patients with the sepsis-induced drop in blood pressure (p-value<0.05)., Conclusion: Identifying these risk factors is important as it will help clinicians identify patients who are at high risk of mortality at an early stage. Through early identification, interventions can be done to reduce the incidence of in-hospital mortality among sepsis patients., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Kumar et al.)

Objective: To study the frequency and types of haemoglobinopathies in children with microcytic anaemia., Methods: The prospective study was conducted at the Paediatric Out-patient Department of Shifa Falahi Community Health Centre, Islamabad, Pakistan, from July to December, 2018, and comprised patients aged from 3 months to 14 years who had haemoglobin <10mg/dl and mean corpuscular volume <70fL. Serum ferritin and haemoglobin electrophoresis were done to check for iron deficiency anaemia and haemoglobinopathies. Data was analysed using SPSS 23., Results: Of 175 subjects, 33(18.9%) had haemoglobinopathies and 142(81.1%) had iron deficiency anaemia. Thalassemia trait 18(10.3%) was the leading cause amongst haemoglobinopathies, followed by thalassemia major 8(4.6 %) and intermedia 5(2.9%). There were 2(1.1%) patients with haemoglobin D., Conclusions: The prevalence of haemoglobinopathies was high. Identification of haemoglobinopathies is important for proper treatment, antenatal screening and future genetic counselling.

Objective: To determine the clinical presentation, aetiology and outcome of pancreatitis in paediatric population., Methods: The retrospective study was conducted at Shifa International Hospital, Islamabad, Pakistan, and comprised data of children with pancreatitis presenting between 2013 and 2018. Medical records were reviewed and findings of clinical, laboratory workup and management were noted on a specifically developed proforma. Data was analysed using SPSS 23., Results: Of the 51 subjects, 28(54.9%) were boys. The overall mean age was 10.6±4.9 years. The most frequent clinical symptom was epigastric pain 39(76.5%). The most common aetiology was gallstones/pancreatic stones 19(37.25%). Mean hospital stay was 5.1±1.8 days, and it was longer in children aged up to 5 years compared to older children (p<0.05). Acute pancreatitis was seen in 23(45.09%) patients, followed by recurrent 19(37.25%) and chronic 9(17.64%). There was no mortality., Conclusions: Timely diagnosis and prompt management of haemodynamic status could lead to successful recovery without any serious complications in paediatric pancreatitis.

Objective Guillain Barre syndrome (GBS) is an autoimmune-mediated, acute, symmetrical, flaccid paralysis. Guillain Barre syndrome has different electrophysiological types that carry prognostic significance and tend to differ between adults and children. This study aims to compare the clinical outcome of Guillain Barre syndrome in Pakistani children based on their electrophysiological types to help in understanding and predicting the prognosis. Study design Observational comparative study Place & duration The pediatric department, Shifa International Hospital, Islamabad; all patients with Guillain Barre syndrome seen between 2012 and 2019 Method All children aged one to 16 years in whom Guillain Barre syndrome was diagnosed based on clinical history, examination, and electrophysiological findings. Institutional review board (IRB) approval was taken and data entered on the designed questionnaire. Chi-square and non-parametric tests were applied for significant association. Results Twenty-three children were included in the study. Of these, 14 were males (60.9%) while the mean age was 5.8 (+4.5) years. Acute inflammatory demyelinating polyneuropathy (AIDP) was found to be the predominant type (9; 39.1%) followed by acute motor and sensory axonal neuropathy (AMSAN) (6; 26.1%), Acute motor axonal neuropathy (AMAN) was diagnosed in four (17.4%) patients. Six (26.1%) patients needed mechanical ventilation and 10 patients (43.5%) required intensive care unit (ICU) care. The majority of the patients (18; 78.3%) received intravenous immunoglobulin (IVIG). Conclusion The study highlights varied electrophysiological types of GBS in Pakistani children, which differ in predominance from previous studies. However, various indicators of poor outcomes that are highlighted in adults, including the older age group, need for mechanical ventilation, and electrophysiological evidence of axonal degeneration, were not significant predictors of outcome in children., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2020, Parveen et al.)

Acute recurrent pancreatitis is a rare entity in children. It can be caused by a number of reasons, anatomical variations being one of them. Panctreatica divisum is the most common form of ductal anomaly while ansa pancreatica has been the least studied and explored. In recurrent pancreatitis, Ansa Pancreatica was recently found to be a key risk factor. It is usually found among adult alcoholics. We submit the report of a rare but important cause of acute recurrent pancreatitis; an 11-year-old child with 2 previous episodes of pancreatitis was diagnosed with ansa pancreati ca on magnetic resonance cholangiopancreatography (MRCP). He was advised to get stenting of Pancreatic duct. To the best of our belief, only another case has been reported in the paediatric population.