Neurophobia : the inconvenient truth

Medical schools have implemented strategies in response to neurophobia to counteract the negative perception and improve neuroscience experiences for undergraduate medical students. In this study, we explored the attitudes, perceptions and preferred learning approaches of undergraduate and postgraduate medical students toward the teaching, facilitation, learning and assessment of neuroanatomy, as well as their perceptions on its relevance in the South African medical curriculum. A total of 299 undergraduate and five postgraduate students from the University of Pretoria participated in this study. We used a multi-method approach in which the undergraduate students completed an anonymous quantitative questionnaire, while the postgraduate students participated in a qualitative focus- group discussion. Undergraduate medical students preferred lecture notes to study from above any other type of literature and mainly used laptop computers as preferred electronic devices in preparation for their assessments. The favourite topic was cranial nerves, and the least popular was histology of the nervous system. Postgraduate students shared their undergraduate neuroanatomy experiences and provided constructive feedback and suggestions to undergraduate students and lecturing staff. Ineffective teaching methods and limited contact time remain factors that contribute to neurophobia in South Africa. Students perceive neuroanatomy as an interesting and important subject in their medical degree. However, changes are needed to modernize neuroanatomy and make it more accessible and student-friendly. The challenge then remains: how do we, as lecturers, modernize neuroanatomy in the medical curriculum to make it contemporary and clinically applicable?https://eurjanat.comam2024AnatomyEducation InnovationSDG-04:Quality Educatio

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Implementation of the Integrated Management of Childhood Illnesses strategy: challenges and recommendations in Botswana

Background: Under-five mortality has been a major public health challenge from time immemorial. In response to this challenge, the World Health Organization and the United Nations Children's Fund developed the Integrated Management of Childhood Illnesses (IMCI) strategy and presented it to the whole world as a key approach to reduce child morbidity and mortality. Botswana started to implement the IMCI strategy in 1998. Reductions in the under-five mortality rate (U5MR) have been documented, although the reduction is not on par with the expected Millennium Development Goal 4 predictions. Design: A quantitative study was done to identify the problems IMCI implementers face when tending children under 5 years in the Gaborone Health District of Botswana. The study population was made up of all the IMCI-trained and registered nurses, and systematic sampling was used to randomly select study participants. Questionnaires were used to collect data. Results: The study findings indicated challenges related to low training coverage, health systems, and the unique features of the IMCI strategy. Conclusions: The comprehensive implementation of the IMCI strategy has the potential to significantly influence the U5MR in Botswana

Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations