The cost of perfection: An investigation into the unnecessary rejection of clinically acceptable lateral wrist imaging.

INTRODUCTION: This study illustrates image rejection rates of the lateral wrist x-ray projection at a large, public teaching hospital. Rejected images were evaluated to determine the number of images that needed to be repeated based on the clinical indication. This study highlights the difference in subjective image-repeat decision-making skills existing between radiologists, experienced radiographers and junior radiographers. METHODS: A retrospective review was conducted of all rejected lateral wrist x-ray images by a panel of three radiologists, three experienced radiographers and six junior radiographers. This review aimed to determine if rejected imaging met the consideration of the clinical indication and assumed appropriate acquisition of an orthogonal projection. A complement of images that had not been rejected were included in the review to create a blinded study. RESULTS: The review demonstrated 85.8% of rejected images were deemed to meet clinical requirements according to radiologists. The experienced radiographers agreed with radiologists regarding 75.3% of images. Junior radiographers agreed with radiologists in 34.2% of cases. Junior radiographers were three times more likely to seek repeat imaging than the radiologists and experienced radiographers. CONCLUSIONS: This review demonstrated a lateral wrist projection reject rate of 38.7% with unnecessary repeats according to clinical indications in 85.8% of cases. The review of experienced radiographers was comparable to radiologists; however, the difference in decision-making skills was evident in the junior radiographers. This highlights an alarming trend, should similar results be demonstrated at other health services and indicates an unnecessary burden to clinical practice. Inclusion of clinical reasoning for imaging and the need for repeat imaging is recommended for radiography training programs.

Resource implications following expansion of computed tomography coronary angiography: An Australian experience.

INTRODUCTION: To determine the downstream utilisation of Computed Tomography Coronary Angiography (CTCA) in a single Australian tertiary centre. METHODS: A single-centre retrospective study analysed 1460 patients undergoing CTCA between 1st January 2015 to 31st December 2018 at a tertiary hospital in Victoria, Australia, with a catchment area of 500,000 people. The coronary stenosis grading, plaque characteristics and coronary calcium score were identified. The downstream impact was assessed by measuring the number of stress echocardiograms, myocardial perfusion scans (MPS), invasive coronary angiograms and subsequent revascularisations. RESULTS: The number of CTCA's performed steadily increased from 59 in 2015 to 395, 461 and 545 in 2016, 2017 and 2018 respectively. Seven hundred and fifty-seven (52%) were females, and 703 (48%) males with 724 (50%) normal CTCA studies. The number of downstream stress echocardiogram performed each year was 2, 60, 46 and 16, respectively, accompanied by MPS numbers of 0, 21, 29, and 18. There were 9, 37, 57 and 64 invasive coronary angiograms with 1, 13, 19 and 22 corresponding revascularisations. Despite small increases in absolute numbers of patients presenting with chest pain (from 2678 in 2015 to 3660 in 2018), there was a significant increase in downstream further testing from 11 in 2015 to 98 in 2018. CONCLUSION: The use of CTCA expansion has resulted in an increase in downstream testing. Therefore, resource planning with regards to CTCA expansion will have to account for increased rates of functional testing, invasive angiography and revascularisation.

Experiences and concerns among patients being treated for atypical chest pain.

BACKGROUND: Many patients who are discharged from the hospital without receiving a clear-cut diagnosis of their chest pain continue to consume health care because of disabling physical and psychological symptoms. By identifying their experiences and concerns following hospitalization, an empirical basis for discussions on ways of improving the care of these particular patients will be obtained. METHODS: A qualitative analysis of semi-structured interviews with 38 patients with a diagnosis of unspecified chest pain was carried out. RESULTS: Two-thirds of the respondents had unanswered questions and concerns that had not been addressed. They found it difficult to understand why they had not undergone more tests. They requested an explanation for their chest pain, at the very least, or were worried about the future. Some respondents accepted the fact that they had not been given a sufficient amount of time and information. They referred to the stressful working situation of the physicians, the view that their admission could be regarded as unnecessary or that physicians at the hospital could not be expected to do more than exclude serious diseases. CONCLUSIONS: Health professionals should address their patients' questions and fears properly and provide them with the most probable explanation for their symptoms. When taking the harmlessness of their symptoms or the situation of their caregivers into account, patients may find it inappropriate to impose further demands on care.

Cloning and characterization of Igsf9 in mouse and human: a new member of the immunoglobulin superfamily expressed in the developing nervous system.

We describe the cloning and characterization of a novel member of the immunoglobulin superfamily, Igsf9. The predicted protein structure of IGSF9 closely matches that of the neural cell-adhesion molecule (NCAM) subfamily, consisting of an extracellular region containing five immunoglobulin domains and two fibronectin type III (FnIII) repeats, a transmembrane region, and a cytoplasmic tail. We have also characterized the orthologous human IGSF9 gene at 1q22-q23, revealing a highly conserved sequence and genomic organization. Expression of Igsf9 was detected by RT-PCR in mouse embryonic RNA from embryonic day (E) 7.5 to E16.5, while whole-mount in situ hybridization at E10.5 shows intense expression within the dorsal root ganglia, trigeminal ganglia, and olfactory epithelium, and less intense expression in the neuroepithelium, retina, and hindgut. In the human, transcription was detected in a wide variety of fetal tissues at both 8 and 14 weeks. Protein homology of IGSF9 is most similar to the Drosophila melanogaster Turtle protein that functions in coordinated motor output in complex behaviors.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

Silver-Russell syndrome (SRS) is characterised by pre- and postnatal growth restriction (PNGR) and additional dysmorphic features including body asymmetry and fifth finger clinodactyly. The syndrome is genetically heterogeneous, with a number of chromosomes implicated. However, maternal uniparental disomy for chromosome 7 has been demonstrated in up to 10% of all cases. Three SRS probands have previously been described with a maternally inherited duplication of 7p11.2-p13, defining this as a candidate region. Over-expression of a maternally transcribed, imprinted gene with growth-suppressing activity located within the duplicated region, or breakpoint disruption of genes or regulatory sequences, may account for the phenotype in these cases. Here we describe two additional SRS patients and four probands with PNGR with a range of cytogenetic disruptions of 7p, including duplications, pericentric inversions and a translocation. An incomplete contig consisting of 80 PACs and BACs from the centromere to 7p14 was constructed. Individual clones from this contig were used as FISH probes to map the breakpoints in the six new cases and the three duplication probands previously described. Our data provide further evidence for a candidate SRS region at 7p11.1-p14. A common breakpoint region was identified within 7p11.2 in all nine cases, pinpointing this specific interval. The imprinting status of genes within the 7p11.1-p14 region flanked by the most extreme breakpoints have been analysed using both somatic cell hybrids containing a single full-length maternally or paternally derived chromosome 7 and expressed single nucleotide polymorphisms in paired fetal and maternal samples.

DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed.

Maternal duplication of human 7p11.2-p13 has been associated with Silver-Russell syndrome (SRS) in two familial cases. GRB10 is the only imprinted gene identified within this region to date. GRB10 demonstrates an intricate tissue- and isoform-specific imprinting profile in humans, with paternal expression in fetal brain and maternal expression of one isoform in skeletal muscle. The mouse homolog is maternally transcribed. The GRB10 protein is a potent growth inhibitor and represents a candidate for SRS, which is characterized by pre- and postnatal growth retardation and a spectrum of additional dysmorphic features. Since imprinted genes tend to be grouped in clusters, we investigated the imprinting status of the dopa-decarboxylase gene (DDC) and the Cordon-bleu gene (COBL) which flank GRB10 within the 7p11.2-p13 SRS duplicated region. Although both genes were found to replicate asynchronously, suggestive of imprinting, SNP expression analyses showed that neither gene was imprinted in multiple human fetal tissues. The mouse homologues, Ddc and Cobl, which map to the homologous imprinted region on proximal Chr 11, were also biallelically expressed in mice with uniparental maternal or paternal inheritance of this region. With the intent of using mouse Grb10 as an imprinted control, biallelic expression was consistently observed in fetal, postnatal, and adult brain of these mice, in contrast to the maternal-specific transcription previously demonstrated in brain in inter-specific F1 progeny. This may be a further example of over-expression of maternally derived transcripts in inter-specific mouse crosses. GRB10 remains the only imprinted gene identified within 7p11.2-p13.

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.

Imprinted gene(s) on human chromosome 7 are thought to be involved in Russell-Silver syndrome (RSS), based on the fact that approximately 10% of patients have maternal uniparental disomy of chromosome 7. However, involvement of the known imprinted genes (GRB10 at 7p12, PEG10 at 7q21.3 and MEST at 7q32) in RSS has yet to be established. To screen for new imprinted genes, we are initially using somatic cell hybrids containing a paternal or maternal human chromosome 7. Transcripts located between D7S530 and D7S649 (a 1.5 Mb interval encompassing MEST ) were subjected to RT-PCR analysis using somatic cell hybrids. One transcript named MESTIT1 (for MEST intronic transcript 1) reproducibly showed paternal-specific expression. Upon further analysis, we found MESTIT1 to be (1) paternally (and not maternally) expressed in all fetal tissues and fibroblasts examined, (2) to be located in an intron of one of the two isoforms of MEST but transcribed in the opposite direction, (3) to be composed of at least two exons without any significant open reading frame, and (4) to exist as a 4.2 kb transcript in many fetal and adult tissues. We could also identify two isoforms of the mouse Mest gene as observed in humans, but it is still unknown if a murine ortholog of MESTIT1 exists. We also examined the imprinting status of MEST isoforms as a first step in assessing whether MESTIT1 might influence the allelic expression pattern of the sense transcript. MEST isoform 1 was determined to be exclusively expressed from the paternal allele in all fetal tissues and cell lines examined, whereas MEST isoform 2 was only preferentially expressed from the paternal allele in a tissue/cell-type-specific manner. Our results suggest that MESTIT1 is a paternally expressed non-coding RNA that may be involved in the regulation of MEST expression during development. MESTIT1 (also known as PEG1-AS) is now the third independent transcript (with MEST and COPG2IT1) identified at human chromosome 7q32 demonstrating paternal chromosome-specific expression.