7 research outputs found
The H Syndrome: A Genodermatosis
H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome
Student-led surgical research network: Enhancing medical student research opportunities
The current paper was planned to describe a student-led surgical research network established by the Research Division of the Surgery Interest Group at the Aga Khan University, Karachi. The project involved the creation of a collaborative network to provide opportunities to medical students to work with faculty on research projects. Over 25 students were directly connected with faculty and research mentors to work on research projects in the surgical specialty of their choice. The initiative of establishing a student-led surgical research network was successfully implemented and provided medical students with novel research opportunities by helping bridge the gap between the students and the faculty
Effectiveness of transcutaneous bilirubin measurement in high-risk neonates and to evaluate validity of transcutaneous bilirubin with total serum bilirubin levels in both low and high-risk neonates at a tertiary care center in a developing country
Objectives: To evaluate the usefulness of transcutaneous bilirubin (TcBR) nomogram in high-risk neonates and to identify the validity of TcBR and total serum bilirubin (TsBR) in both low and high-risk neonates to guide management in under-resourced settings.Methodology: A cross-sectional study was conducted at the well-baby nursery of a tertiary care center in Karachi, Pakistan. All neonates admitted in the well-baby nursery with jaundice were stratified into high and low-risk groups. Eighty-seven neonates were included in the low-risk group and 121 neonates in the high-risk group. The usefulness of the TcBR nomogram in high-risk neonates and the validity of TcBR and TsBR in both low and high-risk neonates were determined through sensitivity and specificity analysis.Results: The correlation coefficients (r) were found to be comparable in the high-risk group (r = 0.82, p \u3c 0.001) and the low-risk group (r = 0.87, p \u3c 0.001). The specificity of cutaneous bilirubin measurement based on bilirubin levels in the high-risk group was higher (93.0%) than that of the low-risk group (90.1%). However, the sensitivity was found to be lower (60.0%) in the high-risk group compared to the low-risk group (68.8%). The mean value of TsBR was equal in both groups. The mean TcBR in the high-risk group was 10 ± 2.3 compared to 11 ± 2.1 in the low-risk group. Phototherapy was given in 67.0% of the high-risk cases and 41.4% of the low-risk cases. Bland Altman analysis was also performed to depict the relationship between TcBR and TsBR measurements.Conclusion: The TcBR nomogram was effective in high-risk neonates and also had validity in both high and low-risk neonates. A phototherapy-driven protocol based on TcBR would be a cost-effective and useful tool in the identification and management of neonatal jaundice in both high and low-risk groups in developing countries like Pakistan
Acceptance of COVID-19 vaccine in Pakistan: A nationwide cross-sectional study
Introduction: The coronavirus disease 2019 (COVID-19) vaccine is available across various countries worldwide, with public-private partnerships ensuring all individuals are vaccinated through a phased approach. Irrespective of the geographical spread, several myths pertaining to the COVID-19 vaccine have stemmed, ultimately limiting the national administration of vaccines and rollouts. This study assessed the acceptance of the COVID-19 vaccine among the general public in Pakistan.Methods: A pre-validated questionnaire was administered from January 2021 to February 2021 to assess the public attitude and acceptance of the COVID-19 vaccine. Logistic regression analyses were run to identify factors associated with the acceptance among the population.Results: A total of 936 responses were elicited, where 15% perceived their risk of being infected at 20-30% with an overall 70% agreeing to be vaccinated if recommended. Multivariate analysis identified higher acceptance in the male gender, healthcare workers, and students. Of all, 66% respondents chose healthcare workers and public officials, whereas 15.6% chose scientific literature, and 12.9% chose social media as the most reliable source of COVID-19 information.Conclusion: Given the relatively greater trust in healthcare providers for information regarding COVID-19, healthcare workers ought to be on the frontline for vaccine campaigns and public outreach efforts, with governmental efforts in addition to the promotion of scientific materials for population-level understanding
Recommendations for developing effective and safe paediatric and congenital heart disease services in low-income and middle-income countries: A public health framework
The global burden of paediatric and congenital heart disease (PCHD) is substantial. We propose a novel public health framework with recommendations for developing effective and safe PCHD services in low-income and middle-income countries (LMICs). This framework was created by the Global Initiative for Children\u27s Surgery Cardiac Surgery working group in collaboration with a group of international rexperts in providing paediatric and congenital cardiac care to patients with CHD and rheumatic heart disease (RHD) in LMICs. Effective and safe PCHD care is inaccessible to many, and there is no consensus on the best approaches to provide meaningful access in resource-limited settings, where it is often needed the most. Considering the high inequity in access to care for CHD and RHD, we aimed to create an actionable framework for health practitioners, policy makers and patients that supports treatment and prevention. It was formulated based on rigorous evaluation of available guidelines and standards of care and builds on a consensus process about the competencies needed at each step of the care continuum. We recommend a tier-based framework for PCHD care integrated within existing health systems. Each level of care is expected to meet minimum benchmarks and ensure high-quality and family centred care. We propose that cardiac surgery capabilities should only be developed at the more advanced levels on hospitals that have an established foundation of cardiology and cardiac surgery services, including screening, diagnostics, inpatient and outpatient care, postoperative care and cardiac catheterisation. This approach requires a quality control system and close collaboration between the different levels of care to facilitate the journey and care of every child with heart disease. This effort was designed to guide readers and leaders in taking action, strengthening capacity, evaluating impact, advancing policy and engaging in partnerships to guide facilities providing PCHD care in LMIC
Recommendations for developing effective and safe paediatric and congenital heart disease services in low-income and middle-income countries: a public health framework
The global of paediatric and congenital heart disease (PCHD) is substantial. We propose a novel public health framework with recommendations for developing effective and safe PCHD services in low-income and middle-income countries (LMICs). This framework was created by the Global Initiative for Children\u27s Surgery Cardiac Surgery working group in collaboration with a group of international rexperts in providing paediatric and congenital cardiac care to patients with CHD and rheumatic heart disease (RHD) in LMICs. Effective and safe PCHD care is inaccessible to many, and there is no consensus on the best approaches to provide meaningful access in resource-limited settings, where it is often needed the most. Considering the high inequity in access to care for CHD and RHD, we aimed to create an actionable framework for health practitioners, policy makers and patients that supports treatment and prevention. It was formulated based on rigorous evaluation of available guidelines and standards of care and builds on a consensus process about the competencies needed at each step of the care continuum. We recommend a tier-based framework for PCHD care integrated within existing health systems. Each level of care is expected to meet minimum benchmarks and ensure high-quality and family centred care. We propose that cardiac surgery capabilities should only be developed at the more advanced levels on hospitals that have an established foundation of cardiology and cardiac surgery services, including screening, diagnostics, inpatient and outpatient care, postoperative care and cardiac catheterisation. This approach requires a quality control system and close collaboration between the different levels of care to facilitate the journey and care of every child with heart disease. This effort was designed to guide readers and leaders in taking action, strengthening capacity, evaluating impact, advancing policy and engaging in partnerships to guide facilities providing PCHD care in LMICs
Recommendations for developing effective and safe paediatric and congenital heart disease services in low-income and middle-income countries: a public health framework
The global burden of paediatric and congenital heart disease (PCHD) is substantial. We propose a novel public health framework with recommendations for developing effective and safe PCHD services in low-income and middle-income countries (LMICs). This framework was created by the Global Initiative for Children’s Surgery Cardiac Surgery working group in collaboration with a group of international rexperts in providing paediatric and congenital cardiac care to patients with CHD and rheumatic heart disease (RHD) in LMICs. Effective and safe PCHD care is inaccessible to many, and there is no consensus on the best approaches to provide meaningful access in resource-limited settings, where it is often needed the most. Considering the high inequity in access to care for CHD and RHD, we aimed to create an actionable framework for health practitioners, policy makers and patients that supports treatment and prevention. It was formulated based on rigorous evaluation of available guidelines and standards of care and builds on a consensus process about the competencies needed at each step of the care continuum. We recommend a tier-based framework for PCHD care integrated within existing health systems. Each level of care is expected to meet minimum benchmarks and ensure high-quality and family centred care. We propose that cardiac surgery capabilities should only be developed at the more advanced levels on hospitals that have an established foundation of cardiology and cardiac surgery services, including screening, diagnostics, inpatient and outpatient care, postoperative care and cardiac catheterisation. This approach requires a quality control system and close collaboration between the different levels of care to facilitate the journey and care of every child with heart disease. This effort was designed to guide readers and leaders in taking action, strengthening capacity, evaluating impact, advancing policy and engaging in partnerships to guide facilities providing PCHD care in LMICs