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Background We present two genetic causes of polyhydramnios that were challenging to diagnose due to their rarity and complexity. In view of the severe implications, we wish to highlight these rare genetic conditions when obstetricians consider differential diagnoses of polyhydramnios in the third trimester. Case presentation Patient 1 is a 34-year-old Asian woman who was diagnosed with polyhydramnios at 28 weeks’ gestation. First trimester testing, fetal anomaly scan, and intrauterine infection screen were normal. Subsequent antenatal ultrasound scans revealed macroglossia, raising the suspicion for Beckwith–Wiedemann syndrome. Chromosomal microarray analysis revealed a female profile with no pathological copy number variants. The patient underwent amnioreduction twice in the pregnancy. The patient presented in preterm labor at 34 weeks’ gestation but elected for an emergency caesarean section. Postnatally, the baby was noted to have a bell-shaped thorax, coat hanger ribs, hypotonia, abdominal distension, and facial dysmorphisms suggestive of Kagami–Ogata syndrome. Patient 2 is a 30-year-old Asian woman who was diagnosed with polyhydramnios at 30 weeks’ gestation. She had a high-risk first trimester screen but declined invasive testing; non-invasive prenatal testing was low risk. Ultrasound examination revealed a macrosomic fetus with grade 1 echogenic bowels but no other abnormalities. Intrauterine infection screen was negative, and there was no sonographic evidence of fetal anemia. She had spontaneous rupture of membranes at 37 + 3 weeks but subsequently delivered by caesarean section in view of pathological cardiotocography. The baby was noted to have inspiratory stridor, hypotonia, low-set ears, and bilateral toe polysyndactyly. Further genetic testing revealed a female profile with a pathogenic variant of the GLI3 gene, confirming a diagnosis of Greig cephalopolysyndactyly syndrome. Conclusion These cases illustrate the importance of considering rare genetic causes of polyhydramnios in the differential diagnosis, particularly when fetal anomalies are not apparent at the 20-week structural scan. We would like to raise awareness for these rare conditions, as a high index of suspicion enables appropriate counseling, prenatal testing, and timely referral to pediatricians and geneticists. Early identification and diagnosis allow planning of perinatal care and birth in a tertiary center managed by a multidisciplinary team.

Background Falls are common among older people, and General Practitioners (GPs) could play an important role in implementing strategies to manage fall risk. Despite this, fall prevention is not a routine activity in general practice settings. The iSOLVE cluster randomised controlled trial aimed to evaluate implementation of a fall prevention decision tool in general practice. This paper sought to describe the strategies used and reflect on the enablers and barriers relevant to successful recruitment of general practices, GPs and their patients. Methods Recruitment was conducted within the geographical area of a Primary Health Network in Northern Sydney, Australia. General practices and GPs were engaged via online surveys, mailed invitations to participate, educational workshops, practitioner networks and promotional practice visits. Patients 65 years or older were recruited via mailed invitations, incorporating the practice letterhead and the name(s) of participating GP(s). Observations of recruitment strategies, results and enabling factors were recorded in field notes as descriptive and narrative data, and analysed using mixed-methods. Results It took 19 months to complete recruitment of 27 general practices, 75 GPs and 560 patients. The multiple strategies used to engage general practices and GPs were collectively useful in reaching the targeted sample size. Practice visits were valuable in engaging GPs and staff, establishing interest in fall prevention and commitment to the trial. A mix of small, medium and large practices were recruited. While some were recruited as a whole-practice, other practices had few or half of the number of GPs recruited. The importance of preventing falls in older patients, simplicity of research design, provision of resources and logistic facilitation of patient recruitment appealed to GPs. Recruitment of older patients was successfully achieved by mailed invitations which was a strategy that was familiar to practice staff and patients. Patient response rates were above the expected 10% for most practices. Many practices ( n  = 17) achieved the targeted number of 20 or more patients. Conclusions Recruitment in general practice settings can be successfully achieved through multiple recruitment strategies, effective communication and rapport building, ensuring research topic and design suit general practice needs, and using familiar communication strategies to engage patients. Trial registration The trial was prospectively registered on 29 April 2015 with the Australian New Zealand Clinical Trial Registry www.anzctr.org.au (trial ID: ACTRN12615000401550).

Background Stress cardiovascular magnetic resonance (CMR) offers assessment of ventricular function, myocardial perfusion and viability in a single examination to detect coronary artery disease (CAD). We developed an in-scanner exercise stress CMR (ExCMR) protocol using supine cycle ergometer and aimed to examine the diagnostic value of a multiparametric approach in patients with suspected CAD, compared with invasive fractional flow reserve (FFR) as the reference gold standard. Methods In this single-centre prospective study, patients who had symptoms of angina and at least one cardiovascular disease risk factor underwent both ExCMR and invasive angiography with FFR. Rest-based left ventricular function (ejection fraction, regional wall motion abnormalities), tissue characteristics and exercise stress-derived (perfusion defects, inducible regional wall motion abnormalities and peak exercise cardiac index percentile-rank) CMR parameters were evaluated in the study. Results In the 60 recruited patients with intermediate CAD risk, 50% had haemodynamically significant CAD based on FFR. Of all the CMR parameters assessed, the late gadolinium enhancement, stress-inducible regional wall motion abnormalities, perfusion defects and peak exercise cardiac index percentile-rank were independently associated with FFR-positive CAD. Indeed, this multiparametric approach offered the highest incremental diagnostic value compared to a clinical risk model ( χ 2 for the diagnosis of FFR-positive increased from 7.6 to 55.9; P  < 0.001) and excellent performance [c-statistic area under the curve 0.97 (95% CI: 0.94–1.00)] in discriminating between FFR-normal and FFR-positive patients. Conclusion The study demonstrates the clinical potential of using in-scanner multiparametric ExCMR to accurately diagnose CAD. Trial registration: ClinicalTrials.gov, NCT03217227, Registered 11 July 2017–Retrospectively registered, https://clinicaltrials.gov/ct2/show/NCT03217227?id=NCT03217227&draw=2&rank=1&load=cart

Summary Bone pain and spinal axial deformity are major concerns in aged patients suffering from osteoporotic vertebral compression fracture (VCF). Pain can be relieved by vertebroplasty or kyphoplasty procedures, in which the compressed vertebral body is filled with substitutes. We randomly assigned 100 patients with osteoporotic compression fracture at the thoraco-lumbar (T-L) junction into two groups: vertebroplasty and kyphoplasty; we used polymethylmethacrylate (PMMA) as the bone filler. Pain before and after treatment was assessed with visual analog scale (VAS) scores and vertebral body height and kyphotic wedge angle were measured from reconstructed computed tomography images. More PMMA was used in the kyphoplasty group than in the vertebroplasty group (5.56 ± 0.62 vs. 4.91 ± 0.65 mL, p  < 0.001). Vertebral body height and kyphotic wedge angle of the T-L spine were also improved ( p  < 0.001). VAS pain scores did not differ significantly between the treatment groups. The duration of follow-up was 6 months. Two patients in the kyphoplasty group had an adjacent segment fracture. In terms of clinical outcome there was little difference between the treatment groups. Thus, owing to the higher cost of the kyphotic balloon procedure, we recommend vertebroplasty over kyphoplasty for the treatment of osteoporotic VCFs. Introduction Spinal axial deformities are major concerns in aged patients suffering from osteoporotic vertebral compression fracture. Pain may be relieved by vertebroplasty or kyphoplasty. We investigated the radiological and clinical outcomes of these procedures. Methods One hundred cases of VCF at the thoraco-lumbar junction were randomly assigned into two groups: vertebroplasty or kyphoplasty (50 cases each). We used polymethylmethacrylate as the bone filler. Pain before and after treatment was assessed with visual analog scale scores and vertebral body height and kyphotic wedge angle were measured from reconstructed computed tomography images. Results More PMMA was used in the kyphoplasty group than in the vertebroplasty group (5.56 ± 0.62 vs. 4.91 ± 0.65 mL, p  < 0.001). Vertebral body height and kyphotic wedge angle of the T-L spine were also improved ( p  < 0.001). VAS pain scores did not differ significantly between the treatment groups. The duration of follow-up was 6 months. Two patients in the kyphoplasty group had an adjacent segment fracture. Conclusions In terms of clinical outcome there was little difference between the treatment groups. Thus, with the higher cost of the kyphotic balloon procedure, we recommend vertebroplasty over kyphoplasty for the treatment of osteoporotic VCFs.

Conventional dual antiplatelet therapy (DAPT) for patients with acute coronary syndromes undergoing percutaneous coronary intervention comprises aspirin with a potent P2Y purinoceptor 12 (P2Y12) inhibitor (prasugrel or ticagrelor) for 12 months. Although this approach reduces ischaemic risk, patients are exposed to a substantial risk of bleeding. Strategies to reduce bleeding include de-escalation of DAPT intensity (downgrading from potent P2Y12 inhibitor at conventional doses to either clopidogrel or reduced-dose prasugrel) or abbreviation of DAPT duration. Either strategy requires assessment of the ischaemic and bleeding risks of each individual. De-escalation of DAPT intensity can reduce bleeding without increasing ischaemic events and can be guided by platelet function testing or genotyping. Abbreviation of DAPT duration after 1–6 months, followed by monotherapy with aspirin or a P2Y12 inhibitor, reduces bleeding without an increase in ischaemic events in patients at high bleeding risk, particularly those without high ischaemic risk. However, these two strategies have not yet been compared in a head-to-head clinical trial. In this Consensus Statement, we summarize the evidence base for these treatment approaches, provide guidance on the assessment of ischaemic and bleeding risks, and provide consensus statements from an international panel of experts to help clinicians to optimize these DAPT approaches for individual patients to improve outcomes.Dual antiplatelet therapy (DAPT) reduces the risk of ischaemic events but can increase the risk of bleeding in patients with acute coronary syndrome undergoing percutaneous coronary intervention. Gorog and colleagues provide consensus statements on strategies to reduce the risk of bleeding by de-escalating the intensity or abbreviating the duration of DAPT.

Background Many animals display morphological and behavioural adaptations to the habitats in which they live and the resources they exploit. Bite force is an important whole-organism performance trait that allows an increase in dietary breadth, the inclusion of novel prey in the diet, territory and predatory defence, and is important during mating in many lizards. Methods Here, we study six species of southern African agamid lizards from three habitat types (ground-dwelling, rock-dwelling, and arboreal) to investigate whether habitat use constrains head morphology and bite performance. We further tested whether bite force and head morphology evolve as adaptations to diet by analysing a subset of these species for which diet data were available. Results Overall, both jaw length and its out-lever are excellent predictors of bite performance across all six species. Rock-dwelling species have a flatter head relative to their size than other species, possibly as an adaptation for crevice use. However, even when correcting for jaw length and jaw out-lever length, rock-dwelling species bite harder than ground-dwelling species. Diet analyses demonstrate that body and head size are not directly related to diet, although greater in-levers for jaw closing (positively related to bite force) are associated to an increase of hard prey in the diet. Ground-dwelling species consume more ants than other species. Conclusions Our results illustrate the role of head morphology in driving bite force and demonstrate how habitat use impacts head morphology but not bite force in these agamids. Although diet is associated with variation in head morphology it is only partially responsible for the observed differences in morphology and performance.