Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Monogenic epilepsies are a significant etiology of pediatric epilepsy. These are now more easily identified due to advances in genetic testing. However, the utility of genetic testing in low to middle-income countries (LMICs) has not been fully explored. A retrospective review was carried out in Karachi, Pakistan. Patients with symptoms suggestive of genetic epilepsy underwent next-generation sequencing (NGS). Seventy-seven patients were tested, of which 27 % (n = 21) initially had pathogenic (P) or likely pathogenic (LP) results. This increased to 32 % (n = 25) after clinical reclassification of some variants of uncertain significance (VUSs) based on American College of Medical Genetics and Genomics (ACMG) guidelines. Initially, 6 % of patients (n = 5) had no P/LP or VUS, and 66 % (n = 51) had at least one VUS. After variant resolution and reclassification, results were negative for 25% (n = 19) and 43% (n = 33) had VUSs. Genetic testing was positive in one-third of our population. The proportion of P/LP variants found in SCN1A is higher than that found in other populations, and we report two novel variants in SCN1A. The yield of genetic testing in our population is comparable to that found in North America. Initially, a higher proportion of our population had inconclusive results, indicating the need for better characterization of the South Asian genotype.

The impact of the COVID-19 pandemic on the career choice of medicine: A cross-sectional study amongst pre-medical students in Pakistan.

Background: The COVID-19 pandemic has significantly affected the lives of healthcare workers due to the frontline nature of their work. Their hard work and sacrifice have forged new perceptions of healthcare workers. These changes may potentially influence students' interest in medicine. This study explores how the COVID-19 pandemic has affected premedical students' decisions to pursue medicine as a career. Methods: A cross-sectional study using a self-designed online questionnaire was carried out amongst pre-medical students across Pakistan. Results: A total of 1695 students from 93 public and private schools filled in the survey. After the onset of the COVID-19 pandemic, significantly more pre-medical students want to pursue medicine (60.7%-62.9%) and less are unsure (20.2%-17%). Students are significantly more likely to be motivated to pursue medicine due to altruistic benefits to society (57% vs. 62.7%) and be deterred by the risk of contracting infections on duty (10%-14.6%). There is a minor but significant increase in the popularity of internal medicine (17.1%-18.9%), public health (4.1% vs. 5.7%), emergency medicine (3.8% vs. 5.7%), pediatrics (3.8% vs. 4.7%), and radiology (2.1% vs. 2.9%). Most pre-medical students felt that doctors routinely undergo physical and emotional turmoil (84%). Conclusions: Although awareness of hardships faced by medical professionals has increased, motivation to pursue medicine has grown. Through understanding trends in the motivations of students to pursue medicine, medical schools can accommodate the expectations of incoming students and reach out to potential applicants.

Factors Influencing the Intention to Pursue Surgery among Female Pre-Medical Students: A Cross-Sectional Study in Pakistan.

BACKGROUND: While gender disparities in surgery are documented worldwide, it is unclear to what extent women consider surgery as a career before embarking on their medical school journey. This study aimed to report the percentage of pre-medical women in Pakistan who intend to eventually specialize in surgery and assess the factors motivating and deterring this decision. METHODS: An online survey was conducted among female pre-medical (high school) students across Pakistan. Multivariable logistic regression was performed to determine motivating and deterring factors associated with the intention to pursue surgery. RESULTS: Out of 1219 female high-school students, 764 (62.7) intended to join medical school. Among these 764, only 9.8% reported an exclusive intent to pursue surgery, while just 20.3% reported considering other specialties in addition to surgery. Significant motivators to pursue surgery exclusively were the intellectual satisfaction of pursuing surgery (adjusted odds ratio: 2.302), having opportunities to travel internationally for work (2.300) and use cutting-edge technology (2.203), interest in the specialty of surgery (2.031), the social prestige of becoming a surgeon (1.910), and considering one's personality well-suited to surgery (1.888). Major deterrents included the lack of interest in surgery (adjusted odds ratio: 3.812), surgical education and training being too difficult (2.440) and lengthy (1.404), and the risk of aggressive behavior from patients (2.239). CONCLUSION: Even before entering medical school, most female pre-medical students have already decided against considering a future surgical career. Deterrents likely stem from women being pressured to conform to deep-seated societal expectations to dedicate their time and energy to domestic responsibilities.

Osteitis Condensans ILII: An Unusual Case Of Severe Back Pain During Pregnancy.

BACKGROUND: Lower back pain is a common complaint in pregnancy which often impacts quality of life. An uncommon aetiology of lower back pain is Osteitis Condensans Ilii (OCI), a condition characterized by a triangular area of sclerosis of ilium adjacent to the sacroiliac joint. It is thought to be associated with pregnancy, but also affects non-pregnant women and men. We discuss a case of a 23-year-old woman, who presented during the 8th month of her first pregnancy with debilitating pain in her lower back. Several differential diagnoses were explored, including autoimmune aetiologies and pregnancy associated osteoporosis, before OCI was diagnosed via an MRI. The patient was managed conservatively with intravenous analgesics and physiotherapy, after which her pain abated gradually. On her 3rd day of admission, the patient went into premature labour and gave birth to a healthy child via vaginal delivery. Her pain resolved completely within days of delivering her baby.

The Need for Transgender Healthcare Medical Education in a Developing Country.

PURPOSE: The single most significant barrier to healthcare for people who identify as transgender is poor access to healthcare providers trained in trans-health. Despite this, trans-health education is far from being a routine component of the undergraduate medical curriculum in developing countries like Pakistan. This study aimed to assess knowledge and attitudes regarding people who identify as transgender, as well as the perceived need for trans-health in the curriculum, amongst medical students in Pakistan. MATERIALS AND METHODS: A cross-sectional study using a self-designed questionnaire was carried out amongst undergraduate medical students at the Aga Khan University. Stratified random sampling was used, whereby students were stratified based on their current year of medical education. RESULTS: A total of 249 students were included in this survey. The majority (61%) had poor overall knowledge, with a significantly higher percentage of pre-clinical students (79.6%) having poor knowledge regarding differences in transgender health needs compared to clinical students (60.3%; p = 0.001). Most students acknowledged that individuals who identified as transgender faced a lack of access to healthcare (78.3%), were poorly integrated into society (92.0%) and were treated differently in a clinical setting (58.6%). Many students were unsure of how to address (49.8%) and clinically examine (38.2%) patients identifying as transgender. However, most students demonstrated good (49.4%) or fair (45.0%) attitudes towards individuals who identified as transgender, and the majority reported a high (54.6%) or moderate (42.2%) perceived need for the inclusion of trans-health in the medical curriculum. CONCLUSION: Despite deficiencies in trans-health education in the medical school curriculum, positive attitudes and a high perceived need among students lay the foundation for developing a medical curriculum that gives due priority to trans-health. In developing countries, this can help bridge disparities in healthcare provision to people who identify as transgender.