Knowing the team around your patient

There are many different professionals who all contribute to the health and support of patients. Understanding each one’s different specialty is important, so that support workers know who the patient needs to be involved in their care—and when. The Code of Conduct for Healthcare Support Workers and Adult Social Care Workers in England (Skills for Care and Skills for Health, 2013) identifies that working in collaboration with colleagues is an important part of the support worker’s role. Within section three and four it highlights three key areas: support workers must ‘recognise and respect the roles and expertise of your colleagues both in the team and from other agencies and disciplines, and work in partnership with them’; ‘work openly and cooperatively with colleagues, including those from other disciplines and agencies, and treat them with respect’; and ‘communicate effectively and consult with your colleagues as appropriate’. These three keys areas of partnership working, respect and communication will be explored and discussed in this article

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

No abstract available

Correlation effects and the high-frequency spin susceptibility of an electron liquid: Exact limits

Spin correlations in an interacting electron liquid are studied in the high-frequency limit and in both two and three dimensions. The third-moment sum rule is evaluated and used to derive exact limiting forms (at both long- and short-wavelengths) for the spin-antisymmetric local-field factor, $\lim_{\omega \to \infty}G_-({\bf q, \omega})$. In two dimensions $\lim_{\omega \to \infty}G_-({\bf q, \omega})$ is found to diverge as $1/q$ at long wavelengths, and the spin-antisymmetric exchange-correlation kernel of time-dependent spin density functional theory diverges as $1/q^2$ in both two and three dimensions. These signal a failure of the local-density approximation, one that can be redressed by alternative approaches.Comment: 5 page

Occupational therapists’ views of using a virtual reality interior design application within the pre-discharge home visit process

This article has been made available through the Brunel Open Access Publishing Fund.Background: A key role of Occupational Therapists (OTs) is to carry out pre-discharge home visits (PHV) and propose appropriate adaptations to the home environment, to enable patients to function independently after hospital-home discharge. However, research shows that more than 50% of specialist equipment installed as part of home adaptations is not used by patients. A key reason for this is that decisions about home adaptations are often made without adequate collaboration and consultation with the patient. Consequently, there is an urgent need to seek out new and innovative uses of technology to facilitate patient/practitioner collaboration, engagement and shared decision making in the PHV process. Virtual reality interior design applications (VRIDAs) primarily allow users to simulate the home environment and visualise changes prior to implementing them. Customised VRIDAs, which also model specialist occupational therapy equipment, could become a valuable tool to facilitate improved patient/practitioner collaboration if developed effectively and integrated into the PHV process. Objective: To explore the perceptions of occupational therapists with regards to using VRIDAs as an assistive tool within the PHV process. Methods: Task-oriented interactive usability sessions, utilising the think-aloud protocol and subsequent semi-structured interviews were carried out with seven Occupational Therapists who possessed significant experience across a range of clinical settings. Template analysis was carried out on the think-aloud and interview data. Analysis was both inductive and driven by theory, centring around the parameters that impact upon the acceptance, adoption and use of this technology in practice as indicated by the Technology Acceptance Model (TAM). Results: OTs’ perceptions were identified relating to three core themes: (1) perceived usefulness (PU), (2) perceived ease of use (PEoU), and (3) actual use (AU). Regarding PU, OTs believed VRIDAs had promising potential to increase understanding, enrich communications and patient involvement, and improved patient/practitioner shared understanding. However, it was unlikely that VRIDAs would be suitable for use with cognitively impaired patients. For PEoU, all OTs were able to use the software and complete the tasks successfully, however, participants noted numerous specialist equipment items that could be added to the furniture library. AU perceptions were positive regarding use of the application across a range of clinical settings including children/young adults, long-term conditions, neurology, older adults, and social services. However, some “fine tuning” may be necessary if the application is to be optimally used in practice. Conclusions: Participants perceived the use of VRIDAs in practice would enhance levels of patient/practitioner collaboration and provide a much needed mechanism via which patients are empowered to become more equal partners in decisions made about their care. Further research is needed to explore patient perceptions of VRIDAs, to make necessary customisations accordingly, and to explore deployment of the application in a collaborative patient/practitioner-based context

Tumour Lysis Syndrome Occurring in a Patient with Metastatic Gastrointestinal Stromal Tumour Treated with Glivec (Imatinib Mesylate, Gleevec, STI571)

Tumour lysis syndrome (TLS) is a rare side effect of chemotherapy for solid tumours. It describes the metabolic derangements following rapid and extensive tumour cell death following a good response to chemotherapy. Symptoms are those of metabolic derangement and renal failure. Treatment involves rehydration and correction of metabolic abnormalities. TLS should be considered in high risk groups. We report a case of TLS in a patient with metastatic gastrointestinal stromal tumour treated with imatinib mesylate. To our knowledge, this is the first reported case

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Background: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to complete feminization of external gonads, accompanied by symptoms of adrenal dysfunction. Methods Whole‐exome sequencing (WES) of a 12‐year‐old male proband and his parents was performed after a protracted diagnostic odyssey failed to uncover the cause of his primary adrenal insufficiency. Of note, the proband had early symptomatology and corrective surgery for hypospadias, raising suspicion for a disorder of steroidogenesis. Results: WES identified compound heterozygous variants in CYP11A1 including a novel canonical splice site variant (c.425+1G>A) and a previously reported p.E314K variant, which were consistent with a diagnosis of congenital adrenal insufficiency with partial 46XY sex reversal. Conclusion: Congenital adrenal insufficiency with 46XY sex reversal is a rare disorder that is characterized by dysregulation of steroid hormone synthesis, leading to adrenal and gonadal dysfunction. In this report, we describe a patient with adrenal insufficiency, hypospadias, and skin hyperpigmentation who was found to have a novel c.425+1G>A variant in trans with the p.E314K variant in CYP11A1. We performed structural analyses to examine the effect of the p.E314K variant on protein function and show that it falls in the core of the protein may disrupt cholesterol binding in the active site

Whole exome sequencing and molecular modeling of a missense variant in TNFAIP3 that segregates with disease in a family with chronic urticaria and angioedema

Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s. Interestingly, both the individual’s 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected members. Variants in TNFAIP3 have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease

Correlation energy of a two-dimensional electron gas from static and dynamic exchange-correlation kernels

We calculate the correlation energy of a two-dimensional homogeneous electron gas using several available approximations for the exchange-correlation kernel $f_{\rm xc}(q,\omega)$ entering the linear dielectric response of the system. As in the previous work of Lein {\it et al.} [Phys. Rev. B {\bf 67}, 13431 (2000)] on the three-dimensional electron gas, we give attention to the relative roles of the wave number and frequency dependence of the kernel and analyze the correlation energy in terms of contributions from the $(q, i\omega)$ plane. We find that consistency of the kernel with the electron-pair distribution function is important and in this case the nonlocality of the kernel in time is of minor importance, as far as the correlation energy is concerned. We also show that, and explain why, the popular Adiabatic Local Density Approximation performs much better in the two-dimensional case than in the three-dimensional one.Comment: 9 Pages, 4 Figure

Ethyl 4-(2-bromo-5-fluoro­phen­yl)-6-methyl-1-phenyl-2-thioxo-1,2,3,4-tetra­hydro­pyrimidine-5-carboxyl­ate

In the title mol­ecule, C20H18BrFN2O2S, the pyrimidine ring adopts a flattened envelope conformation. The halogenated benzene ring is orthogonal to the planar part of the pyrimidine ring [dihedral angle = 89.05 (4)°], while the other phenyl ring is oriented at an angle of 85.14 (5)°. The ethoxy group is disordered over two orientations with site occpancies of ca 0.869 (4) and 0.131 (4). Intra­molecular C—H⋯Br and C—H⋯O hydrogen bonds generate S(5) and S(6) ring motifs. The crystal structure is stabilized by inter­molecular N—H⋯S, C—H⋯F, C—H⋯O and C—H⋯Br hydrogen bonds