Ocular manifestations of renal ciliopathies.

Renal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human retina ( https://www.proteinatlas.org/humanproteome/tissue ) and for an ocular phenotype in mouse models ( http://www.informatics.jax.org/ ). Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor disorders, and coloboma. Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models. Ocular abnormalities are not associated with the most common adult-onset "cystic" kidney diseases, namely, autosomal dominant (AD) polycystic kidney disease and the AD tubulointerstitial kidney diseases (ADTKD). However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Hereditary Angiopathy Nephropathy, Aneurysms and muscle Cramps (HANAC) (tortuous retinal vessels), tuberous sclerosis (retinal hamartomas), von Hippel-Lindau syndrome (retinal hemangiomas), and Alport syndrome (lenticonus, fleck retinopathy). Ocular abnormalities are associated with many pediatric-onset renal ciliopathies but are uncommon in adult-onset cystic kidney disease. However the demonstration of ocular manifestations may be helpful diagnostically and the features may require monitoring or treatment.

Outbreak of diarrhetic shellfish poisoning associated with consumption of mussels, United Kingdom, May to June 2019.

We report on six cases of diarrhetic shellfish poisoning following consumption of mussels harvested in the United Kingdom. Dinophysis spp. in the water column was found to have increased rapidly at the production site resulting in high levels of okadaic acid-group lipophilic toxins in the flesh of consumed mussels. Clinicians and public health professionals should remain aware of algal-derived toxins being a potential cause of illness following seafood consumption.

Long-Term Outcomes of Fractionated Stereotactic Proton Therapy for Vestibular Schwannoma: A Case Series.

PURPOSE: Evaluate clinical outcomes in patients with vestibular schwannoma (VS) treated with fractionated proton therapy (PT) at a single institution. MATERIALS AND METHODS: We retrospectively reviewed the medical records of patients treated with fractionated PT for definitive management of VS between November 2007 and December 2013 at our institution. No patient had received prior treatment for VS. Patients received 50.4 Gy in 28 fractions using passively scattered PT. Pretreatment and posttreatment hearing status, tumor dimensions, and cranial nerve V and VII function were evaluated. Hearing status was graded as nonserviceable or serviceable, defined as Gardner-Robertson grade I or II and the ability to use a telephone with the treated ear. Toxicities were prospectively evaluated using Common Terminology Criteria for Adverse Events, version 4.0. RESULTS: Fourteen patients with 14 lesions (8 men, 6 women) were included in the analysis. Median age at treatment was 60 years (range, 24-74 years). Median clinical follow-up for living patients was 68 months (range, 36-106 months). Mean maximal tumor dimension was 2.1 cm (range, 0.5-3.8 cm). Mean tumor volume was 6.4 cm3 (range, 0.3-16.0 cm3). One patient died of unrelated causes 5 months after treatment, and 2 had subsequent surgical resections due to radiographic and/or clinical progression. The actuarial 3-year local control rate was 85%. There were no cranial nerve V or VII injuries. Two of 6 patients (33%) with serviceable hearing at the time of treatment retained serviceable hearing. Three patients (21%) demonstrated radiographic tumor regression on brain magnetic resonance imaging after a median of 26 months (range, 2-113 months). No acute toxicity of grade 3 or above was reported. CONCLUSION: Fractionated PT for VS is well tolerated and provides good local control. Improvements in proton delivery techniques and patient selection may enable improved outcomes.

A clinical evaluation of a sensor to detect blockage due to crystalline biofilm formation on indwelling urinary catheters.

OBJECTIVE: To test the performance and acceptability of an early warning sensor to predict encrustation and blockage of long-term indwelling urinary catheters. PATIENTS AND METHODS: In all, 17 long-term indwelling catheter users, 15 'blockers' and two 'non-blockers' (controls) were recruited; 11 participants were followed prospectively until catheter change, three withdrew early and three did not start. Two sensors were placed in series between the catheter and the urine bag at catheter change. The sensor nearest the bag was changed at the same time as the bag change (weekly); the sensor nearest the catheter remained in situ for the duration of the catheter's life. Bacteriology and pH determinations were performed on urine samples at each bag, sensor and catheter change. The colour of the sensors was recorded daily. On removal, each sensor and the catheter were examined for visible evidence of encrustation and blockage. Participants were asked to keep a daily diary to record colour change and any other relevant observations and to complete a psychosocial impact of assistive devices tool at the end of the study. Participants and carers/healthcare professionals (when involved in urine bag or catheter change) were asked to complete a questionnaire about the sensor. RESULTS: Urease-producing bacteria were isolated from seven of the 14 patients (including early withdrawals; P. mirabilis in four, Morganella or Providencia in three). In six of the seven patients the sensors turned blue-black; two of these were early withdrawals, two went to planned catheter change (one of these was recruited as a 'non-blocker') and three had catheter blockage. The number of days of catheterisation before blockage was 22, 23 and 25 days, and the sensor changed colour within 24-48 h after insertion. The urine mean (range) pH of the sensors that turned blue-black was 7.6 (5.5-9.0) and of the sensors that remained yellow 6.1 (5.1-7.5). The sensor was generally well-received and was positive in the psychosocial assessment. CONCLUSIONS: The sensor is a useful indicator of urine pH and of the conditions that lead to catheter blockage. It may be particularly useful for new indwelling catheter users. To be a universally acceptable predictor of catheter blockage, the time from sensor colour change to blockage needs to be reduced.

'Putting words into action' project: using role play in skills training.

Research highlights the need to use experienced role-players with skilled facilitation to deliver effective communication skills training (CST) but this is challenging in a large faculty of health. In this pilot project, students from Birmingham City University's School of Acting and role-players from the Learning Disability nursing programme received role-player training (Phase I) before delivering 26 CST sessions to 520 first year BSc nursing students (Phase II), using role-plays based on clinical scenarios in adult, mental health, learning disability and children's nursing. A pre- and post-session survey assessed student confidence, with feedback gathered from role-players, and facilitators. Pre-session confidence levels in students who participated and observed the role-play were similar, and using Wilcoxon and Mann Whitney non-parametric tests, a statistically significant increase in post-session confidence levels was demonstrated across all four fields of nursing. This increase in confidence applied to role-play participating students and observers, although role-playing students gained the largest confidence increase. A Higher Education Academy Collaborative Grant extended the project in 2012/13.

The human urinary microbiome; bacterial DNA in voided urine of asymptomatic adults.

The urinary microbiome of healthy individuals and the way it alters with ageing have not been characterized and may influence disease processes. Conventional microbiological methods have limited scope to capture the full spectrum of urinary bacterial species. We studied the urinary microbiota from a population of healthy individuals, ranging from 26 to 90 years of age, by amplification of the 16S rRNA gene, with resulting amplicons analyzed by 454 pyrosequencing. Mid-stream urine (MSU) was collected by the "clean-catch" method. Quantitative PCR of 16S rRNA genes in urine samples, allowed relative enumeration of the bacterial loads. Analysis of the samples indicates that females had a more heterogeneous mix of bacterial genera compared to the male samples and generally had representative members of the phyla Actinobacteria and Bacteroidetes. Analysis of the data leads us to conclude that a "core" urinary microbiome could potentially exist, when samples are grouped by age with fluctuation in abundance between age groups. The study also revealed age-specific genera Jonquetella, Parvimonas, Proteiniphilum, and Saccharofermentans. In conclusion, conventional microbiological methods are inadequate to fully identify around two-thirds of the bacteria identified in this study. Whilst this proof-of-principle study has limitations due to the sample size, the discoveries evident in this sample data are strongly suggestive that a larger study on the urinary microbiome should be encouraged and that the identification of specific genera at particular ages may be relevant to pathogenesis of clinical conditions.

Summary of: prevalence of oral diseases and oral-health-related quality of life in people with severe mental illness undertaking community-based psychiatric care.

OBJECTIVES: To describe the prevalence of oral diseases and their impact on oral-health-related quality of life in people with severe mental illness undertaking community-based psychiatric care. METHODS: A survey was conducted at eight outpatient psychiatric care clinics in Tower Hamlets, London, UK. One hundred and twelve consecutive patients with mental illness were invited to participate in this study. They were clinically examined and asked to complete the oral health impact profile (OHIP) questionnaire. RESULTS: The response rate was 79% (n = 89); 57 (64%) males and 58 persons over 45 years of age (65%) participated in this survey. Overall OHIP score was 25.4 (95% CI 23.3, 27.4), 70 (78%) were smokers and 45 (51%) had been to the dentist in the last two years. Forty-seven (53%) respondents had caries in at least one tooth, 60 (67%) had 21 teeth and more, and 14 (16%) used dentures. Advanced periodontal treatment was indicated in 42 (55%) of patients and 52.8% (n = 47) patients reported current pain. CONCLUSION: Overall, this survey found that oral health has a great impact on patients with severe mental illness being treated in the community setting and their oral health is poorer than the national adult general population. Future research should consider the causes that relate to the poorer oral health in this population and potential health promotion mechanisms in this population to encourage an upstream approach to health.

Palliative and end-of-life care for patients with idiopathic pulmonary fibrosis: challenges and dilemmas.

Idiopathic pulmonary fibrosis (IPF) is a progressive, life-threatening interstitial lung disease of unknown aetiology and with limited proven treatment options. As it is predominantly a disease of older age, a growing elderly population will increase its incidence. IPF has a poor prognosis, with a median survival of 3-5 years after diagnosis and a 5-year survival rate of 10-15%. Patients may suffer gradual decline but acute and unpredictable episodes of respiratory failure may result in death. Further research is needed to ascertain the worth of potential prognostic indicators such as age, respiratory hospitalisations, percentage of predicted forced vital capacity (FVC), and 24-week change in FVC. Integration of palliative care principles into IPF treatment is essential, including advance care planning, relief of physical and psychological burden, and patient and carer education. It is unknown whether pulmonary rehabilitation is of benefit but it may improve fatigue and functional capacity.

Domiciliary oral healthcare.

UNLABELLED: There is increasing demand for Domiciliary Oral Healthcare (DOHC) and the skills and equipment required to provide a quality, patient-centred service with careful assessment and management in a sometimes compromised situation. Commissioning of DOHC needs to be set in the context and current agenda of equality, diversity and human rights in both health and social care. Effective marketing and community engagement are required to promote awareness of how to access services amongst people confined to home and their families and carers. Training for the whole dental team should be available in order to address the concerns and problems encountered regarding the provision of DOHC. CLINICAL RELEVANCE: Members of the dental team should be aware of the skills required for DOHC and be familiar with using effective care pathways in relation to the provision of DOHC.

Spontaneous coronary artery dissection of the left circumflex artery causing cardiac tamponade and presenting with atrial fibrillation: a case report and review of the literature.

Spontaneous coronary artery dissection is rare. When it does occur, it can present in a myriad of ways and can mimic more common clinical scenarios. Undiagnosed it can be fatal. In this article, the authors present a case of coronary artery dissection in a middle aged man presenting as fast atrial fibrillation with hemodynamic compromise. He was unsuccessfully cardioverted and later arrested and died. Postmortem showed a ruptured dissection of the left circumflex artery causing cardiac tamponade and death. Incidence, associations, pathophysiology, investigations, and treatment options are reviewed.

Antiretroviral combination therapy for HIV infection.

Since the introduction of highly active antiretroviral therapy, studies have demonstrated declining morbidity and mortality rates among people with HIV. This is largely because antiretroviral combination therapy can suppress plasma HIV viral load below detectable limits and cause gradual elevation in CD4 cell counts, resulting in improved immune status for responsive patients who are compliant with therapy. These drugs, however, are not without side-effects, both general and oral, and this review draws attention to some of the interactions of the drugs used to treat HIV infection with drugs used in dentistry.

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.

The chromosome 22q11.2 region is susceptible to rearrangements, mediated by low copy repeats (LCR22s). Deletions and duplications are mediated by homologous recombination events between LCR22s. The recurrent balanced constitutional translocation t(11;22)(q23;q11) breakpoint occurs in an LCR22 and is mediated by double strand breaks in AT-rich palindromes on both chromosomes 11 and 22. Recently, two cases of a t(17;22)(q11;q11) were reported, mediated by a similar mechanism (21). Except for these constitutional translocations, the molecular basis for non-recurrent, reciprocal 22q11.2 translocations is not known. To determine whether there are specific mechanisms that could mediate translocations, we analyzed cell lines derived from 14 different individuals by genotyping and FISH mapping. Somatic cell hybrid analysis was carried out for four cell lines. In five cell lines, the translocation breakpoints occurred in the same LCR22 as for the t(11;22) translocation, suggesting that similar molecular mechanisms are responsible. An additional three occurred in other LCR22s, and six were in non-LCR22 regions, mostly in the proximal half of the 22q11.2 region. The translocation breakpoints on the partner chromosomes were all located in the telomeric bands, proximal to the most telomeric unique sequence probe, in eight cell lines and distal to those loci in six. Therefore, several of the breakpoints were found to occur in the vicinity of highly dynamic regions of the genome, 22q11.2 and telomeric bands. We hypothesize that these regions are more susceptible to breakage and repair, resulting in translocations.