Patient experiences during the planned perioperative care pathway: An integrative review.

AIMS: This integrative review aimed to synthesize evidence about the patients' experiences during the planned perioperative care pathway. DESIGN: Integrative review. DATA SOURCES: Cumulative Index to Nursing and Allied Health Literature (CINAHL), Medline Ovid, Scopus, and American Psychological Association (APA) PsychINFO. Original, peer-reviewed studies published in English between 2012 and 2023 exploring patient experiences during the planned perioperative care pathway were reviewed. METHODS: This review was guided by the Whittemore and Knafl method and followed PRISMA guidelines to search the literature. Twenty-two articles were selected for the final study. RESULTS: Three themes emerged: Sharing of information is empowering; interpersonal relationships are valued by patients, and hospital systems and care co-ordination influence the patient experience. CONCLUSIONS: The quality and consistency of the information patients receive can both support and undermine patient confidence in health professionals. The quality of relationships that participants experience and effective communication with health professionals can support or compromise the quality of the patients' perioperative experience. The nature of the hospital systems and care co-ordination in hospital has implications for the quality of recovery from surgery. IMPACT: This review evaluates whether national and international health services and organizations, adhering to the WHO guidelines, have developed and implemented intentionally focused perioperative care with the aims to achieving effective and sustainable surgical outcomes through increased patient satisfaction. NO PATIENT OR PUBLIC CONTRIBUTION: This article is an integrative review and does not include patient or public contribution.

Training support workers about the overmedication of people with intellectual disabilities: an Australian pre-post pilot study.

BACKGROUND: There is evidence that psychotropic medications are overprescribed and overused to manage behaviours of concern for people with intellectual disabilities. Disability support workers and support staff lack education and training on the administration and safety of psychotropic medication use. This study aimed to test the applicability and preliminary efficacy of SPECTROM, an education programme developed in the UK, in an Australian context. METHODS: The training comprises two parts: Module 1 encompasses psychotropic medications, their use and side effects. Module 2 focuses on non-pharmacological interventions for supporting people with behaviours of concern. Thirty-three participants attended the training course and completed pre-training and post-training surveys on the Psychotropic Knowledge Questionnaire and Management of Aggression and Violence Attitude Scale-Revised at four time points: pre-training, 2 weeks, 3 months and 5 months post-training. RESULTS: Psychotropic Knowledge Questionnaire scores showed statistically significant post-training improvement at all post-training time points (P < 0.05). Management of Aggression and Violence Attitude Scale-Revised scores were high at pre-training and did not change significantly at any of the post-training survey time points. A 2-week post-training feedback questionnaire reported 80% agreement that the training programme was appropriate, useful and valid. Only 36% of participants completed questionnaires at all time points. CONCLUSIONS: SPECTROM training increased staff knowledge of psychotropic medications, yet loss of participants was high. Further refinement of the applicability of the training for the Australian context and evaluation of the feasibility of implementation, clinical and cost-effectiveness of the programme are required.

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Causative mutations in KRT1 and KRT10 have been described, with PPK being present primarily in association with the former. We report four unrelated cases (one with sporadic EI and three with autosomal dominant PPK), due to two novel and two recurrent KRT1 mutations. Mutations in KRT1 are not only scattered throughout the keratin 1 protein, as opposed to being clustered, but can result in a range of phenotypes as further confirmed by these mutations, giving a complex genotype/phenotype pattern.

Postmenopausal craniofacial hyperhidrosis.

Hyperhidrosis is a condition marked by excessive sweating, which can either be localized or generalized. Primary focal hyperhidrosis (PFH) can arise from the palms, plantar feet, axillae and also from the face and scalp. PFH primarily affects a younger population of children and young adults, with the majority presenting before the age of 25 years. We report a distinct subtype of craniofacial hyperhidrosis in 20 postmenopausal women; this subtype is often under-recognized.

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.

The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Mutations in the desmoglein 1 gene (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs. We report seven unrelated pedigrees with dominantly inherited PPK owing to mutations in the DSG1 gene, with marked phenotypic variation. Genomic DNA from each family was isolated, and individual exons amplified by polymerase chain reaction. Sanger sequencing was employed to identify mutations. Mutation analysis identified novel mutations in five families (p.Tyr126Hisfs*2, p.Ser521Tyrfs*2, p.Trp3*, p.Asp591Phefs*9 and p.Met249Ilefs*6) with striate palmar involvement and varying focal or diffuse plantar disease, and the recurrent mutation c.76C>T, p.Arg26*, in two families with variable PPK patterns. We report one recurrent and five novel DSG1 mutations, causing varying patterns of PPK, highlighting the clinical heterogeneity arising from mutations in this gene.

Estimating the risk of acute rheumatic fever in New Zealand by age, ethnicity and deprivation.

In New Zealand, efforts to control acute rheumatic fever (ARF) and its sequelae have focused on school-age children in the poorest socioeconomic areas; however, it is unclear whether this approach is optimal given the strong association with demographic risk factors other than deprivation, especially ethnicity. The aim of this study was to estimate the stratum-specific risk of ARF by key sociodemographic characteristics. We used hospitalization and disease notification data to identify new cases of ARF between 2010 and 2013, and used population count data from the 2013 New Zealand Census as our denominator. Poisson logistic regression methods were used to estimate stratum-specific risk of ARF development. The likelihood of ARF development varied considerably by age, ethnicity and deprivation strata: while risk was greatest in Maori and Pacific children aged 10-14 years residing in the most extreme deprivation, both of these ethnic groups experienced elevated risk across a wide age range and across deprivation levels. Interventions that target populations based on deprivation will include the highest-risk strata, but they will also (a) include groups with very low risk of ARF, such as non-Maori/non-Pacific children; and (b) exclude groups with moderate risk of ARF, such as Maori and Pacific individuals living outside high deprivation areas.

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.

Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.

BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations. OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population. METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of four mevalonate pathway genes and SLC17A9 gene. RESULTS: We detected three novel mutations and seven previously described mutations by direct sequence analysis of the PCR products. Mutations p.Phe249Ser and p.Asn292Ser in mevalonate decarboxylase (MVD) were the most common mutations in this PK cohort; their presence was 27.3% and 13.6% respectively. CONCLUSIONS: This study extended the mutation spectrum of PK in the Chinese Han population and provided further evidence for the genetic basis of PK. We first identified MVD simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype-phenotype correlations.

Transition to retirement and participation in mainstream community groups using active mentoring: a feasibility and outcomes evaluation with a matched comparison group.

BACKGROUND: This paper reports on the feasibility and outcomes of a transition to retirement programme for older adults with disability. Without activities and social inclusion, retirees with disability are likely to face inactivity, isolation and loneliness. METHODS: Matched intervention and comparison groups each consisted of 29 older individuals with disability. There were 42 men and 16 women with a mean age of 55.6 years While attending their individual mainstream community group 1 day per week, intervention group participants received support from community group members trained as mentors. We assessed participants' loneliness, social satisfaction, depression, life events, quality of life, community participation, social contacts, and work hours before and 6 months after joining a community group. RESULTS: Twenty-five (86%) of the intervention group attended their community group weekly for at least 6 months. They increased their community participation, made an average of four new social contacts and decreased their work hours. Intervention participants were more socially satisfied post-intervention than comparison group members. CONCLUSIONS: The results demonstrate that participation in mainstream community groups with support from trained mentors is a viable option for developing a retirement lifestyle for older individuals with disability.

Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.

BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli-Galli disease (GGD) and Dowling-Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level may be necessary to confirm the diagnosis. OBJECTIVES: To identify the underlying genetic defect in a 48-year-old Asian-American woman with a clinical diagnosis of GGD. METHODS: Histological analysis was performed on a skin biopsy using haematoxylin-eosin staining. KRT5 (the gene encoding keratin 5) was amplified from genomic DNA and directly sequenced. RESULTS: The patient had a history of pruritus and hyperpigmented erythematous macules and thin papules along the flexor surfaces of her arms, her upper back and neck, axillae and inframammary areas. Hypopigmented macules were seen among the hyperpigmentation. A heterozygous 1-bp insertion mutation in KRT5 (c.38dupG; p.Ser14GlnfsTer3) was identified in the proband. This mutation occurs within the head domain of the keratin 5 protein leading to a frameshift and premature stop codon. CONCLUSIONS: From the histological findings and mutation analysis the individual was identified as having GGD due to haploinsufficiency of keratin 5.

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17. OBJECTIVES: To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry during the last few years. METHODS: Genomic DNA isolated from saliva or peripheral blood leucocytes was amplified using primers specific for the PC-associated keratin genes and polymerase chain reaction products were directly sequenced. RESULTS: Mutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105. CONCLUSIONS: By identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families.

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.

Congenital skin fragility is a heterogeneous disorder with epidermolysis bullosa and various skin infections as the leading causes. However, even rare diseases must be considered in the differential diagnosis of neonatal skin blistering, including some genetic syndromes with extracutaneous involvement. One such syndrome is ectodermal dysplasia due to deficiency of desmoplakin, a desmosomal protein essential for cellular cohesion in both epithelia and cardiac tissues. Desmoplakin is encoded by the DSP gene, which is localized on chromosome 6p24. Both dominant and recessive mutations in this gene have been reported to cause skin fragility and keratinization defects. We report a child born with a fragile epidermis, alopecia, thick nails, and focal hyperkeratoses on the digits and knees. She was found to have a deficiency of desmoplakin caused by compound heterozygous DSP mutations. She has gradually developed signs of a left ventricular cardiomyopathy.

Responsiveness to self-report questions about loneliness: a comparison of mainstream and intellectual disability-specific instruments.

BACKGROUND: We compared responsiveness to two self-report assessments of loneliness: the UCLA Loneliness Scale (UCLALS) designed for the general community, and the Modified Worker Loneliness Questionnaire (MWLQ) designed for people with intellectual disability (ID). METHODS: Participants were 56 older adults with disability - 40 individuals with ID and 16 without ID. They were individually assessed on the MWLQ and the UCLALS. The difficulty of the items in both scales was evaluated in relation to readability, features of question wording, question length and response format. RESULTS: The UCLALS was more difficult than the MWLQ on each of the difficulty dimensions assessed. There was significantly greater responsiveness to the MWLQ than the UCLALS, especially among people with ID. CONCLUSIONS: To enable as many people with ID as possible express their views on loneliness, the ID-specific MWLQ is a much better choice. However, this choice comes at the cost of ready comparison to loneliness data for the general community, which is available for widely used assessments such as the UCLALS.

Engagement in retirement: an evaluation of the effect of Active Mentoring on engagement of older adults with intellectual disability in mainstream community groups.

BACKGROUND: As adults with intellectual disability age, retirement options need to be explored. One option is to attend a mainstream community group for retirees. Support within these groups could come from group members who are trained to act as mentors for the older adults with intellectual disability. This research evaluated a support training programme, Active Mentoring, which combines elements of Active Support and Co-worker Training. METHOD: Three older women with intellectual disability participated in a non-concurrent multiple baseline design. Effect size analyses (Percentage of Non-overlapping Data) were used to evaluate observational data. RESULTS: Active Mentoring was effective in increasing most types of engagement in activities, but there was no observed effect for social engagement. Mentor help also increased. CONCLUSION: Active Mentoring was effective in eliciting support from mentors, and in increasing activity engagement of older adults with intellectual disability in mainstream community groups.

Characteristics of a widespread community cluster of H275Y oseltamivir-resistant A(H1N1)pdm09 influenza in Australia.

BACKGROUND: Oseltamivir resistance in A(H1N1)pdm09 influenza is rare, particularly in untreated community cases. Sustained community transmission has not previously been reported. METHODS: Influenza specimens from the Asia-Pacific region were collected through sentinel surveillance, hospital, and general practitioner networks. Clinical and epidemiological information was collected on patients infected with oseltamivir-resistant viruses. RESULTS: Twenty-nine (15%) of 191 A(H1N1)pdm09 viruses collected between May and September 2011 from Hunter New England (HNE), Australia, contained the H275Y neuraminidase substitution responsible for oseltamivir resistance. Only 1 patient had received oseltamivir before specimen collection. The resistant strains were genetically very closely related, suggesting the spread of a single variant. Ninety percent of cases lived within 50 kilometers. Three genetically similar oseltamivir-resistant variants were detected outside of HNE, including 1 strain from Perth, approximately 4000 kilometers away. Computational analysis predicted that neuraminidase substitutions V241I, N369K, and N386S in these viruses may offset the destabilizing effect of the H275Y substitution. CONCLUSIONS: This cluster represents the first widespread community transmission of H275Y oseltamivir-resistant A(H1N1)pdm09 influenza. These cases and data on potential permissive mutations suggest that currently circulating A(H1N1)pdm09 viruses retain viral fitness in the presence of the H275Y mutation and that widespread emergence of oseltamivir-resistant strains may now be more likely.

Access to Sexual Health Services and Support for People with Intellectual and Developmental Disabilities: an Australian Cross-sector Survey.

Introduction: People with intellectual and developmental disabilities under the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) have the right to access sexual health services including information, education, and support. Little is known about the capacity of sexual health professionals to provide these services. Methods: Using an observational research design, this study utilised a descriptive survey tool (PASH-Ext) that also encompassed a standardised measure, with a cross-sectional purposive sample of 52 Australian sexual health professionals. Data was collected in 2020. Results: Just over half of the participants reported having received training in their preservice education to work with people with intellectual and developmental disabilities, of these 60% held the view that people with intellectual and developmental disabilities would not feel embarrassed receiving sexual health information and support. Conclusion: The study found that training is both important to the professionals' preparedness to work with people with intellectual and developmental disabilities, and that these professionals advocate for the continuation of this training in pre-service courses and additional training in post service education for sexual health workers. Policy Implications: To progressively realise Article 25 of the UNCRPD signatory, countries need to ensure sexual health services are accessible to people with intellectual and developmental disabilities. This study recommends that sexual health policy addresses equity of access for people with intellectual and developmental disability by ensuring all staff are prepared and supported to provide these services.