Reflecting on the communication process in health care. Part 2: the management of complaints.

This is Part 2 of a two-part article on the communication process in healthcare practice. Part 1 focused on clinical practice in relation to breaking bad news. In Part 2, the focus is on the management of complaints, including the communication process, and the subsequent emotional impact on the health professional. Efficient management of complaints is vital to ensure positive outcomes for all stakeholders-patients, health professionals and the organisation. Reflection is a highly beneficial tool and this process is used to acknowledge the impact of a complaint on the author, other health professionals and the health organisation, and propose ways in which management of this highly sensitive issue could be improved in the future.

Reflecting on the communication process in health care. Part 1: clinical practice-breaking bad news.

This is the first of a two-part article on the communication process in health care. The interactive process of effective communication is crucial to enabling healthcare organisations to deliver compassionate, high-quality nursing care to patients, in facilitating interactions between the organisation and its employees and between team members. Poor communication can generate negativity; for instance, misperception and misinterpretation of the messages relayed can result in poor understanding, patient dissatisfaction and lead to complaints. Reflection is a highly beneficial tool. In nursing, it enables nurses to examine their practice, identify problems or concerns, and take appropriate action to initiate improvements. This two-part article examines the role of a uro-oncology clinical nurse specialist (UCNS). Ongoing observations and reflections on the UCNS's practice had identified some pertinent issues in the communication process, specifically those relating to clinical practice and the management of practice-related issues and complaints. Part 1 examines the inherent problems in the communication process, with explanation of their pertinence to delivering optimal health care to patients, as demonstrated in four case studies related to breaking bad news to patients and one scenario related to communicating in teams. Part 2 will focus on the management of complaints.

Bladder cancer: overview and management. Part 2: muscle-invasive and metastatic bladder cancer.

This is Part 2 of an article on bladder cancer: an overview of disease and its management. Part 1 provided an overview of non-muscle-invasive bladder cancer, how the disease presents, is diagnosed and subsequently treated ( Anderson, 2018 ). Part 2 provides an overview of muscle-invasive and metastatic bladder cancer and outlines treatment options currently available to manage the relevant stages of the disease. The management of muscle-invasive cancers comprise surgical intervention with transurethral resections, cystectomy (removal of the bladder), and systemic chemotherapy and radiotherapy (multi-modality treatment). For locally advanced and metastatic disease, systemic chemotherapy and radiotherapy are offered, but only as a palliative measure. The intent of treatments for muscle-invasive disease is curative. For metastatic disease, the intent is disease control, extending life, managing symptoms and improving quality-of-life outcomes. This article will include the treatments for the relevant stage of muscle-invasive and metastatic bladder cancer and highlight the respective risks and benefits. The risk factors for bladder cancer, such as smoking, and risks associated with relevant treatments are discussed. The role of the multidisciplinary team is underlined in the management of bladder cancer, specifically the role of the uro-oncology cancer nurse specialist in the provision of reassurance and support to patients.

Bladder cancer: overview and disease management. Part 1: non-muscle-invasive bladder cancer.

Part 1 of this two-part article provides an overview of bladder cancer and discusses its management. Since publication of a previous article entitled 'Understanding the role of smoking in the aetiology of bladder cancer' ( Anderson, 2009 ), the author has received many requests for an update. This article provides an overview of bladder cancer and its current management practices, underlining the continued role of smoking as the predominant risk factor in the disease's development. The management of bladder cancer is governed by specific guidelines. Management of non-muscle-invasive cancers, including surgical intervention with transurethral resection, and intravesical therapy using chemotherapy and immunotherapy agents, is discussed. Cystectomy (removal of the bladder), is sometimes necessary. Treatments are effective in reducing tumour recurrence, but the effects of the risks and side-effects on the individual's quality of life can be significant. The prevalence of bladder cancer, and the nature of its management make this cancer one of the most expensive for the NHS to treat. The effectiveness of health promotional strategies in increasing peoples' awareness of their risk of developing the disease, and in enabling them to change long-term health behaviours is discussed. The role of the multidisciplinary team is explored, along with that of the uro-oncology cancer nurse specialist. Part 2 will consider the management of muscle-invasive and metastatic bladder cancer.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). This rare condition is characterized by bilateral choanal atresia, hearing loss, cleft lip and/or palate, and other craniofacial dysmorphisms. Mutations were found in 9 of 11 affected families. In 8 families, affected individuals carried a rare loss-of-function mutation (nonsense, frameshift, or microdeletion) on one allele and a low-frequency 34 bp deletion (allele frequency 0.76%) in the core promoter region on the other allele. In a single highly consanguineous family, formerly diagnosed as oculo-oto-facial dysplasia, the four affected individuals were homozygous for a 34 bp promoter deletion, which differed from the promoter deletion in the other families. Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri-snRNP complex. Our results indicate that BMKS is an autosomal-recessive condition, which is frequently caused by compound heterozygosity of low-frequency promoter deletions in combination with very rare loss-of-function mutations.

An insight into the patient's response to a diagnosis of urological cancer.

A cancer diagnosis and the patient's response to the news pertains to all types of cancer, however, in this article, the focus is on urological cancer. Intrinsic to the management of this patient group is the urology multidisciplinary team, in which the role of the cancer nurse specialist (CNS) is pivotal. For most people, a cancer diagnosis is arguably their worst fear. It is therefore prudent that a holistic approach is used when determining care and ensuring that appropriate support is forthcoming. This necessitates an assessment of the physical, psychological/emotional, psycho-social, spiritual and cultural components of the individual's healthcare needs, and accordingly, devising a plan of care to secure the best outcomes. This article concentrates on the psychological/emotional component. It outlines a case study of a patient's response to the consultant's question in the joint consultation clinic, examines the CNS's interpretation and understanding of the events, and her perspective on whether factors such as fear, anxiety and distress influence the individual's response to the diagnosis, their comprehension of information and the messages relayed, and consequently, their ability to manage the ensuing issues. It also looks at the support available to cancer patients following the receipt of a cancer diagnosis and its efficacy in addressing their concerns. Integral to this is effective communication, specifically the timely provision of information by health professionals.

Cancer management: the difficulties of a target-driven healthcare system.

This article gives a reflective overview on cancer management from a urological perspective. It is based on anecdotal evidence and observations of local practice, and highlights some of the inherent difficulties of delivering a robust service in a target-driven healthcare system. Cancer is a complex disease. It is crucial that stringent measures are used to ensure those affected by it receive care that is of the highest quality, delivered in a timely manner, and tailored to meet the individual's needs. In 2000, the Government's attempt to increase competition among healthcare providers in the delivery of care, and thereby healthcare quality and efficiency, resulted in a number of healthcare reforms being introduced in the UK. Central to these were the NHS Cancer Waiting Time standards, which were designed to fast-track care delivery in the management of cancer patients. The multidisciplinary teams play a pivotal role in this process and their contribution is imperative to achieving the desired outcomes. It is acknowledged that targets can be beneficial, but there are clear unintended consequences as well. Increases in urgent referrals result in significant screening demands and, consequently, newly diagnosed cancers. This, combined with factors such as patient choice and costs, put added pressure on NHS establishments and health professionals to deliver care within the target specifications.

Prostate cancer among Jamaican men: exploring the evidence for higher risk.

BACKGROUND: Historically, black men of African descent have been disproportionately affected by prostate cancer compared with Caucasian men. African-Caribbean men are generally at higher risk of prostate cancer, with Jamaican men noted to have the highest incidence in the world. No robust evidence exists for the increased incidence among Jamaican men, or indeed, a clear explanation for the reasons these men are at a greater risk of developing the disease in comparison with other African-Caribbean men. METHODS AND FINDINGS: A literature review was undertaken. The findings indicated that black men of African descent, specifically Jamaican men, are at greater risk of prostate cancer and this finding applies to Africa, the Caribbean, the UK and USA. CONCLUSIONS: Current evidence for the higher incidence of prostate cancer among Jamaican men remains inconclusive and does not provide a clear explanation for its prevalence. More comparative studies are required to identify any predisposing factors responsible for this anomaly, worldwide. The involvement of health professionals in these research undertakings is important to obtaining insight into prostate cancer and in devising strategies to improve management and health outcomes.

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.

Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the flexural surfaces often accompanied by craniofacial anomalies. In severe forms, such as in the autosomal-recessive Bartsocas-Papas syndrome, early lethality is common, complicating the identification of causative mutations. Using exome sequencing in a consanguineous family, we identified the homozygous mutation c.1127C>A in exon 7 of RIPK4 that resulted in the introduction of the nonsense mutation p.Ser376X into the encoded ankyrin repeat-containing kinase, a protein that is essential for keratinocyte differentiation. Subsequently, we identified a second mutation in exon 2 of RIPK4 (c.242T>A) that resulted in the missense variant p.Ile81Asn in the kinase domain of the protein. We have further demonstrated that RIPK4 is a direct transcriptional target of the protein p63, a master regulator of stratified epithelial development, which acts as a nodal point in the cascade of molecular events that prevent pterygium syndromes.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. The condition usually occurs sporadically and is therefore presumed to be due in most cases to new dominant mutations. In individuals with SBBYSS, a whole-exome sequencing approach was used to demonstrate de novo protein-truncating mutations in the highly conserved histone acetyltransferase gene KAT6B (MYST4/MORF)) in three out of four individuals sequenced. Sanger sequencing was used to confirm truncating mutations of KAT6B, clustering in the final exon of the gene in all four individuals and in a further nine persons with typical SBBYSS. Where parental samples were available, the mutations were shown to have occurred de novo. During mammalian development KAT6B is upregulated specifically in the developing central nervous system, facial structures, and limb buds. The phenotypic features seen in the Qkf mouse, a hypomorphic Kat6b mutant, include small eyes, ventrally placed ears and long first digits that mirror the human phenotype. This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder.

Challenges for the clinical nurse specialist in uro-oncology care.

Cancer is a complex illness that over the years has provoked much fear and speculation for patients, their relatives and health professionals. Emphasis has been placed on cancer management from the point of diagnosis, as well as treatments and their associated risks. As a result of increased technology and improved treatment modalities, more people are now surviving cancer and go on to live longer and healthier lives. While such an achievement is commendable, it places a significant strain on the healthcare economy. The Cancer Reform Strategy acknowledges that the management of cancers in the UK warrants clear definitive protocols and guidelines, to ensure a strategy that is capable of achieving the desired outcomes for those individuals who are affected by the disease. Integral to this objective is the multidisciplinary team, in which the role of the cancer nurse specialist is fundamental to achieving holistic patient outcomes. However, this article addresses the challenges of a uro-oncology clinical nurse specialist from a conceptual, as well as a personal, perspective. It focuses on the role that is specific to the management of patients who are diagnosed with urological cancers.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is an inflammatory disorder resulting from mutations in TREX1, RNASEH2A/2B/2C, SAMHD1, or ADAR1. Here, we provide molecular, biochemical, and cellular evidence for the pathogenicity of two synonymous variants in RNASEH2A. Firstly, the c.69G>A (p.Val23Val) mutation causes the formation of a splice donor site within exon 1, resulting in an out of frame deletion at the end of exon 1, leading to reduced RNase H2 protein levels. The second mutation, c.75C>T (p.Arg25Arg), also introduces a splice donor site within exon 1, and the internal deletion of 18 amino acids. The truncated protein still forms a heterotrimeric RNase H2 complex, but lacks catalytic activity. However, as a likely result of leaky splicing, a small amount of full-length active protein is apparently produced in an individual homozygous for this mutation. Recognition of the disease causing status of these variants allows for diagnostic testing in relevant families.

African and Afro-Caribbean men's experiences of prostate cancer.

UNLABELLED: It is well documented that prostate cancer presents a significant health problem for middle-aged and elderly men in the UK, with further evidence suggesting that the disease is more prevalent in men of African and Afro-Caribbean (AAC) ethnicity. There is also evidence that these men are diagnosed much later and that the disease is more aggressive than in Caucasian men. AIM: To explore AAC men's experiences of prostate cancer and their understanding of its associated risks. The purpose was to gain an insight from these men's perspectives and ascertain whether a more focused health promotion strategy, and specific UK-based research, was needed in this area. METHOD: A purposive sample of seven AAC men was recruited from a hospital trust's patient list after gaining approval from a research ethics committee. In-depth face-to-face interviews were carried out and the transcripts analysed thematically. FINDINGS: The four main themes that emerged were: disease-prompted awareness, checking up as a necessary evil, defining and constructing factors influencing prostate cancer screening uptake, and appraising perceived myths about prostate cancer through personal beliefs. CONCLUSIONS: Among this group of AAC men, socioeconomic status, such as education and professional background, were factors that influenced their level of awareness of prostate cancer and prompted their decisions to seek help. However, it is evident from these men's perspectives that a more specific health education strategy that promotes early detection and management, targeting AAC men, would help in demystifying prostate cancer and encourage them to seek help earlier. Further research studies and health education in prominent social outlets are recommended in increasing AAC men's awareness of prostate cancer and its associated risks.

The benefits to nurse-led telephone follow-up for prostate cancer.

Prostate cancer is an important and increasing health problem for urologists, and one which places significant demands on healthcare establishments for improvements in service provision and maintaining quality. Guidelines for diagnosing and managing prostate cancer in the UK are set out by the National Institute for Health and Clinical Excellence (2008). Diagnosis includes a number of elements, of which the Prostatic Specific Antigen (PSA) test is highly significant both in the diagnosis process and in monitoring patients following treatment. Ongoing monitoring of service provision within the outpatients' department highlighted an urgent need for improvements in the care received by prostate cancer patients. There is evidence (Department of Health (DH), 2007) to suggest that in undertaking initiatives aimed at improving service delivery and patient satisfaction, the skills of the multidisciplinary team are paramount (specifically the specialist nurse) in the provision of a nurse-led service. Over time, demands for nurse-led services have increased. In particular, telephone consultations have been shown to provide significant improvements in service delivery. A nurse-led PSA telephone follow-up clinic was developed and implemented in 2005 to increase efficiency within the uro-oncology outpatient clinic. Between August 2005 and March, 2009, a total of 67 patients were recruited into the clinic, 46 of which are still being followed-up at the time of writing. To evaluate patient satisfaction with this nurse-led initiative, a questionnaire was developed and a telephone interview conducted. Results indicate an overall satisfaction with the telephone follow-up service with 39 (90%) patients stating that they are very satisfied with the service provided.

A perspective on changing dynamics in nursing over the past 20 years.

The quest to provide individuals with good quality health care has been a long-term goal in which the contribution of health professionals, specifically nurses, has been vital. However, over the years ever-increasing demands from both the government and the general public for higher levels of performance, combined with problems associated with the long-standing issue of staff shortages, and the constant drive for cost-effectiveness, has meant achieving this objective has become more difficult.

Understanding the role of smoking in the aetiology of bladder cancer.

Bladder cancer is common in the UK. Of all the aetiological factors associated with the development of the disease, cigarette smoking is the most important, in industrialized countries. It is estimated that 60% of all bladder cancers result from smoking. The management of bladder cancer is governed by specific guidelines. Superficial cancers are managed surgically with transurethral resection, while more aggressive tumours are managed with cystectomy (removal of the bladder). Additional treatment includes cytotoxic therapy with intravesical chemotherapy and immunotherapy agents. However, while treatments may be effective in reducing tumour recurrence, the side effects of treatments on the individual's quality of life can be devastating. This paper seeks to provide an overview of bladder cancer, namely how the disease presents and is subsequently treated. The role of smoking is discussed in relation to the development of bladder cancer. Also, whether health promotion and education are effective in increasing the individual's awareness of the dangers of smoking are explored.