Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation

RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A) domain coded by a repeat sequence. Since none of the known mutations causing CCD characterised to date map in the glutamine repeat region, we hypothesised that Q-repeat mutations may be related to a more subtle bone phenotype. We screened subjects derived from four normal populations for Q-repeat variants. A total of 22 subjects were identified who were heterozygous for a wild type allele and a Q-repeat variant allele: (15Q, 16Q, 18Q and 30Q). Although not every subject had data for all measures, Q-repeat variants had a significant deficit in BMD with an average decrease of 0.7SD measured over 12 BMD-related parameters (p = 0.005). Femoral neck BMD was measured in all subjects (−0.6SD, p = 0.0007). The transactivation function of RUNX2 was determined for 16Q and 30Q alleles using a reporter gene assay. 16Q and 30Q alleles displayed significantly lower transactivation function compared to wild type (23Q). Our analysis has identified novel Q-repeat mutations that occur at a collective frequency of about 0.4%. These mutations significantly alter BMD and display impaired transactivation function, introducing a new class of functionally relevant RUNX2 mutants.

The association between use of antidepressants and bone quality using quantitative heel ultrasound.

Osteoporosis and depression are major public health problems worldwide. Studies have reported an association between antidepressant use, mainly selective serotonin reuptake inhibitors (SSRIs), and bone mineral density (BMD), but the issue remains unclear.

Aortic intima-media thickness measured by trans-abdominal ultrasound as an early life marker of subclinical atherosclerosis

Atherosclerosis is a chronic inflammatory process that begins in early life. Improved identification of markers of early atherosclerosis via neonatal aortic intima-media thickness (aIMT) measurement may allow the development of interventions to prevent or reduce later cardiovascular disease.

Real-time ultrasound measures of lumbar erector spinae and multifidus: reliability and comparison to magnetic resonance imaging

In this work we examine the reliability and validity (in comparison to magnetic resonance imaging; MRI) of real-time ultrasound measures of lumbar erector spinae thickness. We also consider the between-day reliability of the lumbar multifidus muscle area as measured via ultrasound. 23 male subjects aged 21-45 years were measured three times over the course of nine days by one operator. The first (L1) through to the fifth (L5) lumbar vertebral levels were measured on the left and right sides. MRI was performed on the same day as first ultrasound scanning. For between-day intra-rater reliability, intra-class correlation co-efficients (ICCs), standard error of the measurement, minimal detectable difference and co-efficients of variation (CVs) were calculated along with their 95% confidence intervals and Bland-Altman analysis was performed. On Bland-Altman analysis, erector spinae thickness and multifidus area ultrasound measures 'agreed' with equivalent MR measures, though the correlation between MR and ultrasound measures was typically poor to moderate. For both ultrasound measures, the ICCs ranged from 'moderate' to 'excellent' at individual vertebral levels, although multifidus area (CV ranged from 8 to 15%) was less reliable than erector spinae thickness (CV ranged from 6 to 10%). 'Agreement' on Bland-Altmann analysis was present between days for all ultrasound measures. Averaging between sides and between vertebral levels improved reliability. Average erector spinae thickness showed a CV of 5.5% (ICC 0.77) and average multifidus area 6.2% (ICC 0.80).

Contrast-enhanced ultrasound evaluation of the renal microcirculation response to terlipressin in hepato-renal syndrome: a preliminary report

BACKGROUND: Terlipressin improves renal function in some patients with type-1 hepato-renal syndrome (HRS). Renal contrast-enhanced ultrasound (CEUS), a novel imaging modality, may help to predict terlipressin responsiveness. OBJECTIVES: We used CEUS to estimate the effect of terlipressin on the renal cortical microcirculation in type-1 HRS. METHODS: We performed renal CEUS scans with destruction-replenishment sequences using Sonovue(®) (Bracco, Milano Italy) as a contrast agent at baseline and after the intravenous administration of 1 mg of terlipressin, in four patients with type-1 HRS. We analyzed video sequences offline using dedicated software. We derived a perfusion index (PI) at each time point for each patient. RESULTS: Patients 1 and 2 had severe presentation and were admitted to the intensive care unit. Both showed a marked increase in PI (+216% and + 567% of baseline) in response to terlipressin. Patients 3 and 4 had less severe presentations and had a decrease in PI (-53% and -20% of baseline) in response to terlipressin. Patients 1, 2, and 4, but not patient 3, responded to terlipressin therapy with a decrease in serum creatinine to <150 µmol/L. CONCLUSIONS: CEUS detected changes in renal cortical microcirculation in response to terlipressin and demonstrated heterogeneous microvascular responses to terlipressin. These initial proof-of-concept findings justify future investigations.

Low frequency ultrasound debridement (Sonoca-185) in acute wound management: a case study

There are numerous evidence-based wound debridement techniques that promote wound healing. However, some of these techniques may cause discomfort and pain for the patient and can be costly for the health care provider. A new, non-invasive wound debridement technique known as low-frequency ultrasonic debridement (LFUD) has been used for the removal of unhealthy tissue and bacterial load in wound management in the clinical setting. This paper reports the use of LFUD by a skin integrity clinical nurse consultant (CNC) as an adjuvant wound debridement and healing technique in a patient with a parastomal abscess. LFUD was found to benefit this patient in terms of expedited wound healing and increased comfort, enabling the patient to have a successful skin graft that led to complete wound closure and discharge from hospital in a timely manner.

Utilising point of care ultrasound for vascular access in haemodialysis

Learning outcomes: On completion of this continuing professional development activity, participants will be able to: • Discuss basic ultrasound principles; • Define the roles and responsibilities of the nurse in point of care ultrasound; • Identify strategies to utilise ultrasound to provide quality cannulation practice; • Identify anatomic structures on an ultrasound picture; • Identify anomalies in the anatomy such as thrombus, stenosis, aneurysm and pseudoaneurysm; • Describe the advantages and disadvantages of using ultrasound for assessment and cannulation; • Enable staff to reflect on their current approaches to assessment and cannulation.

Vein measurement by peripherally inserted central catheter nurses using ultrasound: A reliability study

Background Peripherally inserted central catheters (PICCs) are increasingly inserted by trained registered nurses, necessitating the development of specialized skills such as the use of ultrasound. The selection of an adequately sized vein is an important factor in reducing adverse events such as deep vein thrombosis. However, PICC nurses may receive minimal training in the use of ultrasound for vein measurement. Objective We aimed to demonstrate the reliability of a vein measurement protocol using ultrasound by a PICC nurse trained in sonography. Methods The diameter of the basilic, brachial, and cephalic veins in the left arms of healthy participants (n = 12) were measured using ultrasound by a PICC nurse and a sonographer. A PICC nurse performed the measurement twice and the sonographer once; the PICC nurse's results were compared for intra-rater reliability and compared with the sonographer for inter-rater reliability. The results were analyzed using intraclass correlation coefficients (ICCs). Results Inter-rater reliability between the PICC nurse and the sonographer was adequate, the ICC for the brachial vein was 0.60 (95% confidence interval [CI], 0.06-0.87), basilic vein ICC was 0.87 (95% CI, 0.58-0.96) and cephalic vein ICC was 0.77 (95% CI, 0.39-0.93). Intra-rater reliability of the PICC nurse was higher; the ICC for the brachial vein was 0.80 (95% CI, 0.44-0.94), basilic vein ICC was 0.92 (95% CI, 0.67-0.98), and cephalic vein ICC was 0.78 (95% CI, 0.40-0.93). Conclusions Using a suitable protocol, a PICC nurse was able to measure vein diameter reliably when compared with a sonographer and consistently replicate these results.