Humanising case-based learning.

PURPOSE OF THE ARTICLE: Medical undergraduates at St George's, University of London (SGUL) study a weekly clinical case during their clinical science years. Audit of the human stories demonstrated lack of diversity, mono-professionalism, and objectification of some patients. A collaborative partnership with staff, student and patient representation implemented curriculum change, including an inclusive case-writing initiative. We explored whether the reformed written cases supported the development of positive attitudes by sampling perceptions of the cases amongst students. METHODS: Sixteen semi-structured interviews were conducted (Feb-November 2022) with first year medical students. We applied an interpretative phenomenological analysis approach. Verbatim transcripts were coded and analysed to elucidate themes. RESULTS: Four themes were identified: (i) effective learning, (ii) clinical authenticity, (iii) authentic human stories, and (iv) opportunity for rehearsing the role of a doctor. Students perceived the cases as an effective, contextual learning method, with a high degree of clinical authenticity, allowing mentalisation of doctor attitudes and behaviours in relation to patient-centredness, multidisciplinary team working and diversity. CONCLUSION: The results suggest the reformed cases created positive attitudinal change amongst students and supported transition to clinical roles. Memorable human stories had the greatest impact. Dynamic, inclusive, and collaborative case writing initiatives which integrate realism, diversity and multi-professionalism may help to foster positive experiences in students undertaking CBL sessions.

What guides student learning in the clinical years: A mixed methods study exploring study behaviours prior to the UK Medical Licensing Assessment (UKMLA).

PURPOSE: Student study behaviours that prioritise the UKMLA content map over the local curriculum are a significant risk for UK medical education. To mitigate this, we describe a student-centred faculty process to improve local curriculum guidance based on an evaluation of student study behaviours, concerns and needs. Responses informed the build of an online curriculum map. METHODS: A mixed methods approach was adopted, including an online anonymous survey exploring student study behaviours and preferences for curricular guidance. This was followed by student-led focus groups to explore emergent themes further. Qualitative data underwent reflexive thematic analysis. RESULTS: 121 students responded to the survey, of which 12 consented to participate in two student-led focus groups. Five key themes emerged, including motivation for learning, student use of the intended curriculum, student experience of the enacted curriculum, the hidden curriculum, and expectations of an online curriculum map. CONCLUSIONS: A participatory framework enabled shared aims and responsive outcomes for curricular development in the run up to the UKMLA. Student responses led to clarification of guidance, reorganisation of learning resources and optimal design of an online curriculum map which linked all content in a visible, UKMLA aligned framework, accessible to all students and teachers.

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

BACKGROUND: Keratosis pilaris atrophicans (KPA) is a group of rare genodermatoses characterised by perifollicular keratosis and inflammation that progresses to atrophy and scars of the facial skin. Keratosis pilaris of extensor areas of limbs is a common associated finding. Most cases with KPA are sporadic and no consistent inheritance pattern has been documented. METHODS: A large consanguineous Pakistani pedigree segregating autosomal recessive KPA of a mixed type was subject to autozygosity mapping and whole exome sequencing. Quantification of mRNA and protein levels was performed on fibroblasts from affected individuals. Cellular uptake of the low-density lipoprotein (LDL) receptor-related protein 1 (LRP1) ligand α2-macroglobulin (α(2)M) was quantified using fluorescence confocal microscopy. RESULTS: Genetic analyses identified a unique homozygous missense variant (K1245R) in the LRP1 in all affected family members. LRP1 encodes the LRP1, a multifunctional cell surface receptor with endocytic functions that belongs to the LDL receptor family. The LRP1 mRNA and LRP1 protein levels in fibroblasts of affected individuals were markedly reduced when compared with controls. Similarly, the LRP1-mediated cellular uptake of α(2)M was reduced in patient fibroblasts. CONCLUSIONS: This is the first report on LRP1 as a pathogenic gene for autosomal recessive KPA and keratosis pilaris. The inflammatory characteristics of the KPA entity in our family suggest a link to the immune-regulatory functions of LRP1.

ß-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan.

Prenatal diagnosis (PND) of ß-thalassemia has been underutilized in Pakistan because of a number of social and economic factors. National Institute for Biotechnology and Genetic Engineering Faisalabad in collaboration with Multan Institute of Nuclear Medicine and Radiotherapy Multan introduced free PND service for carrier couples of Multan district. Multan has a population of about 4 million. More than 170 couples registered for retrospective PND and in 2 years 105 PND were carried out through first trimester chorionic villus sampling. Almost 90% of these couples were unable to afford the cost of PND and would not have undergone the test as free service was not available. Monoplex and Multiplex Amplification Refractory Mutation System-polymerase chain reaction and genomic DNA sequencing were used for detection of IVS (intervening sequence)-I-5 (G-C), FSC (frameshift codon)-8/9 (+G), FSC-41/42 (-TTCT), IVS-I-1 (G-T), 619 bp deletion, and CD-15 (G-A) ß-globin mutations. Eighty-one percent (85/105) couples analyzed were in a consanguineous marriage. Twenty-three fetuses were found homozygous mutant and all couples opted for discontinuation of affected pregnancies. More families are registering for PND after establishment of this free and accessible PND service.

Student learning about UK health services in a cross-border curriculum partnership; the London-Cyprus experience.

This article was migrated. The article was marked as recommended. Purpose of the article Cross border partnerships require curricula, faculty and students to negotiate challenges associated with national regulatory frameworks, contexts and cultures. This study investigated student attitude and behaviours when encountering learning about health services in host and home students in the context of problem based learning. Materials and Methods First year graduate entry students' health systems interest and exposure and their perceptions of the dynamics of learning in PBL were investigated via a questionnaire comprising open and closed questions. Results and Conclusions Results showed a difference between home and host students in the ways they learned about home health systems and their attitudes to the value of learning about home and international health systems. There was no difference in the quantity of health service related learning objectives generated. Both groups reported noticing differences between the PBL cases and clinical practice, however, perceptions of the reasons for the differences varied between home and host students. We are interested in the way in which this perception of difference was reported as either a stimulus or a barrier to learning.

Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.

We present here an analysis of 888 unrelated beta-thal chromosomes consisting of 444 transfusion dependent children from various regions of Punjab and Islamabad Pakistan. By using Multiplex ARMS- PCR, restriction endonuclease analysis, allele specific oligonucleotide (ASO) hybridization and sequencing, 17 beta-thal mutations and 3 Hb variants were detected in 99.5 % (884/888) of the chromosomes analyzed. First trimester prenatal diagnosis by chorionic villus sampling (CVS) was also carried out in seven pregnancies at risk of beta-thalassemia. Our results indicate that three most common mutations accounted for 86.8% of the beta-thal alleles in this region. These findings have important implications for prevention of beta-thalassemia through genetic counseling and prenatal diagnosis in this part of Pakistan.

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and 'pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations. We report on a large consanguineous family segregating six members with early onset HSP. The pedigree was compatible with both autosomal dominant and autosomal recessive inheritance. Whole-exome sequencing and segregation analysis revealed a homozygous novel missense variant c.353G>A, p.(Arg118Gln) in ATL1 in all six affected family members. Seven heterozygous carriers, five females and two males, showed no clinical signs of HSP with the exception of sub-clinically reduced vibration sensation in one adult female. Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of HSP, whereas heterozygous carriers are asymptomatic. This apparent autosomal recessive inheritance adds to the clinical complexity of spastic paraplegia 3A and calls for caution using directed genetic screening in HSP.