Abstract This paper explores the perceived challenges facing clinical genetics practitioners in multicultural Australia. Focus groups conducted with 53 practitioners explored: 1) participants’ experiences and definitions of cultural diversity; 2) their use of educational resources with clients; 3) their experiences with culturally diverse groups/individuals in practice; 4) their experiences working with interpreters; and 5) the impact culturally specific educational training and/or experiential learning had on their confidence or practice when dealing with culturally diverse clients. Participants viewed culture as extending beyond traditional definitions such as ethnicity, language and religion. Most respondents had experienced positive results working with health care interpreters, although at times, this was a challenge for the family as they preferred privacy and the use of family members as interpreters. Another commonly reported challenge was the limited availability of reliable, culturally appropriate translated resources. Some participants expressed concern that learning theories about specific cultures may lead to stereotypes and that opportunities for formal cultural competence training were limited. Recommendations for practice include the targeting of educational resources to meet the needs of a diverse community and placing cultural competence on the agenda for ongoing training and maintenance of professional standards for clinical genetics practitioners to avoid the current ad hoc approach.
Antennapedia class homeobox genes, which in insects are involved in regional specification of the segmented central regions of the body, have been implicated in a similar role in the vertebrate hindbrain. The development of the hindbrain involves the establishment of compartments which are subsequently made distinct from each other by Hox gene expression, implying that the lineage of neural cells may be an important factor in their development. The hindbrain produces the neural crest that gives rise to the cartilages of the branchial skeleton. Lineage also seems to be important in the neural crest, as experiments have shown that the crest will form cartilages appropriate to its level of origin when grafted to a heterotopic location. We show how the Hox genes could also be involved in patterning the mesenchymal structures of the branchial skeleton. Recently it has been proposed that the rhombomere-restricted expression pattern of Hox 2 genes is the result of a tight spatially localised induction from underlying head mesoderm, in which a prepattern of Hox expression is visible. We find no evidence for this model, our data being consistent with the idea that the spatially localised expression pattern is a result of segmentation processes whose final stages are intrinsic to the neural plate. We suggest the following model for patterning in the branchial region. At first a segment-restricted code of Hox gene expression becomes established in the neuro-epithelium and adjacent presumptive neural crest. This expression is then maintained in the neural crest during migration, resulting in a Hox code in the cranial ganglia and branchial mesenchyme that reflects the crest's rhombomere of origin. The final stage is the establishment of Hox 2 expression in the surface ectoderm which is brought into contact with neural crest-derived branchial mesenchyme. The Hox code of the branchial ectoderm is established later in development than that of the neural plate and crest, and involves the same combination of genes as the underlying crest. Experimental observations suggest the idea of an instructive interaction between branchial crest and its overlying ectoderm, which would be consistent with our observations. The distribution of clusters of Antennapedia class genes within the animal kingdom suggests that the primitive chordates ancestral to vertebrates had at least one Hox cluster. The origin of the vertebrates is thought to have been intimately linked to the appearance of the neural crest, initially in the branchial region.(ABSTRACT TRUNCATED AT 400 WORDS)
ABSTRACT kreisler is a recessive mutation resulting in gross malformation of the inner ear of homozygous mice. The defects in the inner ear are related to abnormalities in the hindbrain of the embryo, adjacent to the ear rudiments. At E9.5, the neural tube posterior to the boundary between the third and fourth rhombomeres, r3 and r4, appears unsegmented, and the region that would normally correspond to r4 is unusually thick-walled and contains many dying cells. The absence of morphological segmentation in the posterior hindbrain corresponds to an altered pattern of gene expression in that region, with major abnormalities posterior to the r4/5 boundary and minor abnormalities anterior to it. From the expression patterns at E9.5 of Krox-20, Hoxb-1 (Hox 2.9), Hoxb-2 (Hox 2.8), Hoxa-3 (Hox 1.5), Hoxd-4 (Hox 4.2) and cellular retinoic-acid binding protein I (CRABP I), it appears that the fundamental defect is a loss of r5 and r6. Correspondingly, the glossopharyngeal ganglion and nerve, associated with r6 are missing and the abducens nerve, which originates from r5 and r6, is also absent. Examination of Krox-20 expression at stages as early as E8.5 indicates that Krox-20 fails ever to be expressed in its r5 domain in the homozygous kreisler mutant. The abnormal amount of cell death is seen only later. An interpretation is that the cells that would normally become specified at an early stage as r5 and r6 adopt an r4 character instead, producing an excess of r4 cells that is disposed of subsequently by cell death.
Abstract Objective Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia. Testing of a simple blood spot now enables the early detection of over 30 conditions. Policies across Australian states have diverged in some aspects of NBS, especially in the retention and further use of dried blood spots collected as part of the screening and attempts are underway to bring some further national consistency. Whilst this has initiated debate amongst health professionals and policy makers there is limited empirical evidence of wider community attitudes to such issues. Methods This research has explored the range and depth of views held by the wider community in New South Wales through moderated small group discussions. It has also assessed the range and depth of responses where the groups are reconvened after being given further information. Results The findings suggest that there is limited community awareness of the public health importance of NBS and especially that resulting biological samples are stored. Members of the wider community presented with opportunities to consider current procedures and policies appear reassured and to have high levels of trust. However there are clearly some groups who have concerns with the storage of dried blood spot specimens and perceive that these may be abused. Policy implications and conclusion The findings will inform health professionals and policy makers as to the perceived benefits and future challenges NBS raises for the wider community. The findings have implications for improving current communications about NBS, maintaining public confidence and the development of state and national initiatives in genetic health.
We read with interest the article by Hazra and Cherabie 1 who conclude that the classification of mpox as a sexually transmitted infection (STI) would only worsen sigma faced by those affected.The authors provide examples of US initiatives to reduce stigma and emphasise educating communities on transmission dynamics and prevention methods.There is no mention of what impacted communities think of mpox as an STI despite previous publications on this 2 , and no details on how to effectively involve communities in such discussions.Mpox-affected communities should be at the heart of this discourse.We call for a change in the global mpox response to be more community-led, through the example of involving the community in a UK clinical treatment trial as a step towards this.The UK mpox outbreak began in May 2022 and has recorded over 3,700 cases which are disproportionately affected gay, bi, and men who have sex with men (GBMSM) who have been stigmatised as a result 3 .Between 38 -50% of those have also been living with Human Immunodeficiency Virus (HIV) 4 .The PLATINUM trial is a national UK trial to evaluate the safety and efficacy of tecovirimat in non-hospitalised mpox patients.Early and rapid community leadership led to community involvement in the PLATINUM trial (Table 1).
This letter explores the societal aspects and healthcare implications that underlie thinking about mpox (formerly known was monkeypox), in the 2022 outbreak, as a sexually transmitted infection (STI). The authors examine what underlies this question, exploring what is an STI, what is sex, and what is the role of stigma in sexual health promotion. The authors argue that, in this specific outbreak, mpox is an STI among men who have sex with men (MSM). The authors highlight the need of critically thinking about how to communicate effectively, the role of homophobia and other inequalities, and the importance of the social sciences.
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