COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making.     

Protective role of endothelial nitric oxide synthase

Nitric oxide is a versatile molecule, with its actions ranging from haemodynamic regulation to anti-proliferative effects on vascular smooth muscle cells. Nitric oxide is produced by the nitric oxide synthases, endothelial NOS (eNOS), neural NOS (nNOS), and inducible NOS (iNOS). Constitutively expressed eNOS produces low concentrations of NO, which is necessary for a good endothelial function and integrity. Endothelial derived NO is often seen as a protective agent in a variety of diseases.This review will focus on the potential protective role of eNOS. We will discuss recent data derived from studies in eNOS knockout mice and other experimental models. Furthermore, the role of eNOS in human diseases is described and possible therapeutic intervention strategies will be discussed.     

Associations of place of birth with asthma and wheezing in Mexican American children

BACKGROUND: There are wide global variations in the prevalence of asthma and wheezing. OBJECTIVES: We examined the associations of place of birth with doctor-diagnosed asthma, wheezing in the past 12 months, and other allergic conditions in Mexican American children. METHODS: The study used data on 4121 Mexican American children age 2 months to 16 years who participated in the Third National Health and Nutrition Examination Survey. RESULTS: The risk of asthma was associated with being born in the United States after adjusting for sex, age, history of ear infection, and having a regular place for health care (odds ratio, 2.19; 95% CI, 1.09-4.40). Among children with no previous history of ear infection, US-born children were more likely to report wheezing in the past 12 months than their peers born in Mexico after controlling for confounding variables (odds ratio, 2.05; 95% CI, 1.09-3.87). Mexican American children born in the United States were more likely to have positive skin reaction to cat, house mite, Alternaria alternata , peanut, Bermuda grass, and short ragweed but were less likely to have a positive skin test to German cockroaches after adjusting for sex, age, ear infection, having a regular place for health care, and area of residence. CONCLUSION: Our study indicated significant associations of place of birth with respiratory symptoms and allergic conditions in Mexican American children. These findings highlight the need for further studies to examine environmental factors that change by migration and explain the observed differential in the risk of asthma or wheezing.     

Determination of left ventricular mass in dogs with rapid-acquisition cardiac computed tomographic scanning

The development of left ventricular hypertrophy in patients with heart disease often has far-reaching clinical implications with respect to overall morbidity and mortality. Approaches used to assess left ventricular mass include electrocardiography, echocardiography, contrast ventriculography, single photon-emission tomography, and conventional computed tomography. However, all of these modalities suffer from some major draw back that precludes widespread application to all patients. In this study we assessed the accuracy of determinations of left ventricular mass in 22 dogs by rapid-acquisition (50 msec) computed axial tomography (RACAT), an ultrafast computed tomographic (CT) instrument. Electrocardiographically triggered, end-diastolic, short-axis cardiac scans were obtained from apex to base during administration of intravenous iodinated contrast. Myocardial edges were determined for each tomographic scan by two methods: the regional half-contour method (the CT density half way between that of the left ventricular myocardium and adjacent ventricular cavities or lung) and "interactive plateau thresholding" of the cardiac borders. Left ventricular mass by RACAT was calculated as the sum of the mass of each individual scan from apex to base (modified Simpson's rule). Postmortem left ventricular mass ranged from 58 to 160 g. The correlation between true left ventricular mass and tomographically determined mass was excellent (r = .99), with the slope and y intercept not statistically different from 1 and 0, respectively. The standard error of the estimate was 4.1 g. Interobserver and intraobserver variability for determining left ventricular mass demonstrated excellent agreement (r = .99 and r = .99, respectively). We conclude that quantitative assessment of left ventricular mass can be accurately and reproducibly performed in dogs by rapid acquisition CT scanning. It is likely that this technique will be readily transferable to the clinical settings and prove to be an important method for quantifying left ventricular mass in patients.     

Associations between admissions factors and the need for remediation

Advances in Health Sciences Education - This study examines the way in which student characteristics and pre-admissions measures are statistically associated with the likelihood a student will...     

Use of past care markers in risk-adjustment: accounting for systematic differences across providers

The European Journal of Health Economics - Risk-adjustment models are used to predict the cost of care for patients based on their observable characteristics, and to derive efficient and equitable...     

The Effect of Functional Pelvic Tilt on the Three-Dimensional Acetabular Cup Orientation in Total Hip Arthroplasty Dislocations

BackgroundAnterior and posterior pelvic tilt appears to play a role in total hip arthroplasty (THA) stability. When changing from the standing to the sitting position, the pelvis typically rotates posteriorly while the hips flex and this affects the femoro-acetabular positions. This case-control study compares changes in 3-D acetabular cup orientation during functional pelvic tilt between posterior THA dislocations vs stable THAs.MethodsStanding and sitting 3-D cup orientation was compared between fifteen posterior dislocations vs 233 prospectively followed stable THAs. 3-D cup orientation was calculated using previously validated trigonometric algorithms on biplanar radiographs. Those algorithms combine the angles in the three anatomical planes (coronal inclination, transverse version, and sagittal ante-inclination) in the standing position with the change in sagittal pelvic tilt from standing to sitting to calculate the 3-D orientation in the sitting position.ResultsThe standing cup orientation of the dislocated THAs was only characterized by a lower coronal inclination (P = .039). Compared with the controls, from standing to sitting, they showed less posterior pelvic tilt (P < .001). This led to a significant lower coronal inclination (P < .001) and sagittal ante-inclination (P < .001) in the sitting position but similar transverse version (P = .366).ConclusionsComparing posterior THA dislocations to stable THAs, there is a lower increase of all three orientation angles from standing to sitting. This leads to a decreased sitting coronal inclination and sagittal ante-inclination which may lead to an increased risk of impingement ensued by THA instability. By contrast, the transverse version was not significantly different in both positions. This confirms the importance of biplanar data on functional cup orientation.Level of EvidenceDiagnostic, Level III.     

Sexual Agreements and Intimate Partner Violence Among Male Couples in the U.S.: An Analysis of Dyadic Data

Prior research with male couples has focused on how sexual agreements can influence relationship dynamics, sexual risk taking, and health promoting behaviors. Little is known about the association between sexual agreements and the experience or perpetration of intimate partner violence (IPV) in this population. Our study sought to evaluate these associations using dyadic data from a sample of 386 male couples residing in the U.S. Both partners independently reported on their relationship characteristics, sexual agreements, and specific acts reflecting physical, emotional, controlling, and monitoring IPV in separate surveys. Participants were more likely to have experienced IPV in the past year if they were in a relationship for?≥?3 years versus?<?3 years (aOR?=?1.62, 95% CI?=?1.03–2.53). Among 278 couples who had formulated sexual agreements, men who concurred with their partners on being in an “open” relationship were less likely to have experienced IPV versus those in a “closed” relationship (aOR?=?0.47, 95% CI?=?0.25–0.89). However, participants were more likely to have experienced IPV if their partners believed they had previously broken their sexual agreement (aOR?=?2.79, 95% CI?=?1.03–7.52). The verbal explicitness and duration of sexual agreements were not associated with either experiencing or perpetrating IPV in the past year. However, increasing levels of depressive symptomatology were associated with a greater likelihood of both experiencing and perpetrating IPV. Our findings highlight the need to prioritize dyadic interventions for male couples that focus on skills building around enhancing mutual communication and negotiating sexual agreements to reduce IPV.

     

Transforming the health information system using mobile and geographic information technologies,Papua New Guinea

In the context of declining economic growth, now exacerbated by the coronavirus disease 2019 pandemic, Papua New Guinea is increasing the efficiency of its health systems to overcome difficulties in reaching global health and development targets. Before 2015, the national health information system was fragmented, underfunded, of limited utility and accessed infrequently by health authorities. We built an electronic system that integrated mobile technologies and geographic information system data sets of every house, village and health facility in the country. We piloted the system in 184 health facilities across five provinces between 2015 and 2016. By the end of 2020, the system’s mobile tablets were rolled out to 473 facilities in 13 provinces, while the online platform was available in health authorities of all 22 provinces, including church health services. Fractured data siloes of legacy health programmes have been integrated and a platform for civil registration systems established. We discuss how mobile technologies and geographic information systems have transformed health information systems in Papua New Guinea over the past 6 years by increasing the timeliness, completeness, quality, accessibility, flexibility, acceptability and utility of national health data. To achieve this transformation, we highlight the importance of considering the benefits of mobile tools and using rich geographic information systems data sets for health workers in primary care in addition to the needs of public health authorities.