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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.
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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.
Assuntos
Hiperceratose Epidermolítica/genética , Queratina-1/genética , Ceratodermia Palmar e Plantar/genética , Adulto , Família , Feminino , Humanos , Masculino , Mutação , Adulto JovemAssuntos
Proteínas Adaptadoras de Transporte Vesicular/genética , Ceratodermia Palmar e Plantar/genética , Dor/genética , Adolescente , Adulto , Idade de Início , Criança , Feminino , Heterozigoto , Humanos , Ceratodermia Palmar e Plantar/complicações , Ceratodermia Palmar e Plantar/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Adulto JovemRESUMO
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.
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Desmogleína 1/genética , Ceratodermia Palmar e Plantar/genética , Mutação/genética , África/etnologia , América/etnologia , Europa (Continente)/etnologia , Feminino , Testes Genéticos , Humanos , Masculino , Linhagem , Fenótipo , Adulto JovemRESUMO
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.
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Receptores Frizzled/genética , Mutação , Doenças da Unha/congênito , Unhas Malformadas/genética , Pré-Escolar , Feminino , Humanos , Masculino , Doenças da Unha/complicações , Doenças da Unha/etiologia , Doenças da Unha/genética , Unhas Malformadas/etiologiaAssuntos
Conexinas/genética , Displasia Ectodérmica/genética , Mutação de Sentido Incorreto/genética , Adolescente , Adulto , Idoso , Criança , Conexina 30 , Diagnóstico Diferencial , Displasia Ectodérmica/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paquioníquia Congênita/diagnóstico , Paquioníquia Congênita/genética , Fenótipo , Adulto JovemRESUMO
OBJECTIVE: To estimate the echocardiography confirmed prevalence of rheumatic heart disease (RHD) in school children in Fiji. DESIGN: Cross-sectional observational study. SETTING: Ten primary schools in Fiji. PATIENTS: School children aged 5-14 years. INTERVENTIONS: Each child had an echocardiogram performed by an echocardiographic technician subsequently read by a paediatric cardiologist not involved with field screening, and auscultation performed by a paediatrician. MAIN OUTCOME MEASURES: Echocardiographic criteria for RHD diagnosis were based on those previously published by the National Institutes of Health (NIH) and World Health Organization (WHO), and data were also analyzed using the new World Heart Federation (WHF) criteria. Prevalence figures were calculated with binomial 95% confidence intervals. RESULTS: Using the modified NIH/WHO criteria the prevalence of definite RHD prevalence was 7.2 cases per 1000 (95% CI 3.7-12.5), and the prevalence of probable RHD 28.2 cases per 1000 (95% CI 20.8-37.3). By applying the WHF criteria the prevalence of definite and borderline RHD was 8.4 cases per 1000 (95% CI 4.6-14.1) and 10.8 cases per 1000 (95% CI 6.4-17.0) respectively. Definite RHD was more common in females (OR 5.1, 95% CI 1.1-48.3) and in children who attended school in a rural location (OR 2.3, 95% CI 0.6-13.50). Auscultation was poorly sensitive compared to echocardiography (30%). CONCLUSION: There is a high burden of undiagnosed RHD in Fiji. Auscultation is poorly sensitive when compared to echocardiography in the detection of asymptomatic RHD. The results of this study highlight the importance of the use of highly sensitive and specific diagnostic criteria for echocardiography diagnosis of RHD.
Assuntos
Ecocardiografia/estatística & dados numéricos , Programas de Rastreamento/estatística & dados numéricos , Cardiopatia Reumática/diagnóstico por imagem , Cardiopatia Reumática/epidemiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Países em Desenvolvimento/estatística & dados numéricos , Feminino , Fiji/epidemiologia , Auscultação Cardíaca/estatística & dados numéricos , Humanos , Masculino , Prevalência , Alocação de Recursos/estatística & dados numéricos , Instituições Acadêmicas , Sensibilidade e Especificidade , Organização Mundial da SaúdeRESUMO
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.
Assuntos
Queratinas/genética , Mutação/genética , Paquioníquia Congênita/genética , Humanos , Queratina-16/genética , Queratina-17/genética , Queratina-6/genética , LinhagemRESUMO
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.
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Acantólise/genética , Mutação da Fase de Leitura/genética , Queratina-5/genética , Transtornos da Pigmentação/genética , Feminino , Heterozigoto , Humanos , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Alopecia/genética , Desmoplaquinas/genética , Dermatopatias Vesiculobolhosas/genética , Disfunção Ventricular Esquerda/genética , Pré-Escolar , Feminino , Humanos , Mutação , SuéciaRESUMO
We present a rare case of intracerebral epidermoid cyst with partial calcification on CT and a characteristic hyperintense signal on diffusion-weighted MR imaging (DWI). MR imaging with DWI may help to accurately distinguish the lesion from other cystic tumours of the brain.
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Encefalopatias/diagnóstico , Calcinose/diagnóstico , Cisto Epidérmico/diagnóstico , Lobo Temporal , Imagem de Difusão por Ressonância Magnética/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XAssuntos
Urticaria Pigmentosa/diagnóstico , Abdome/patologia , Idoso , Biópsia , Humanos , Masculino , Pele/patologia , Urticaria Pigmentosa/patologiaRESUMO
BACKGROUND: The incidence of carcinoid tumours is approximately 1.5 per 100 000 of the population. The malignant carcinoid syndrome, which is caused by circulating neuroendocrine mediators produced by the tumour, occurs in less than 10% of patients. Cutaneous involvement, although recognized in this rare syndrome, has rarely been reported. OBJECTIVES: To examine a series of patients with the malignant carcinoid syndrome, to establish the prevalence and types of cutaneous involvement and to assess whether these could be used as indicators of disease activity, progression and prognosis. METHODS: Patients with the malignant carcinoid syndrome who attended a multidisciplinary clinic for neuroendocrine tumours over a 23-month period between February 2001 and December 2002 were invited to participate in the study. This involved completion of a standard history proforma and a detailed cutaneous examination with findings recorded by clinical photography. RESULTS: Twenty-five patients were enrolled. All but one had experienced flushing, three had rosacea, five had clinical features of pellagra and two had scleroderma. Flushing was generally an early manifestation of the syndrome, whereas both the pellagra and scleroderma tended to occur in more advanced disease. CONCLUSIONS: This descriptive case series indicates that cutaneous features are not uncommon in the syndrome. They are readily diagnosed on clinical examination, and may be useful indicators of disease activity and prognosis.
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Síndrome do Carcinoide Maligno/diagnóstico , Dermatopatias/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Tumor Carcinoide/secundário , Progressão da Doença , Dermatoses Faciais/diagnóstico , Feminino , Rubor/diagnóstico , Humanos , Neoplasias Hepáticas/secundário , Masculino , Síndrome do Carcinoide Maligno/patologia , Pessoa de Meia-Idade , Prognóstico , Rosácea/diagnóstico , Escleroderma Sistêmico/diagnóstico , Dermatopatias/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/secundárioRESUMO
Williams syndrome is a complex syndrome comprising developmental abnormalities, craniofacial dysmorphic features, and cardiac anomalies. The most common cardiac anomaly is supravalvular aortic stenosis. We report a case of a 6-year-old girl with Williams syndrome who presented with decompensated heart failure due to ischemic cardiomyopathy. Her only significant cardiac anomaly was severe stenosis of the left main coronary artery. She subsequently died despite surgical revascularization. Isolated coronary anomalies are rare in Williams syndrome but should be considered especially in the presence of heart failure or ischemia.
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Estenose Coronária/complicações , Estenose Coronária/diagnóstico , Síndrome de Williams/complicações , Síndrome de Williams/diagnóstico , Estenose Aórtica Supravalvular/diagnóstico , Criança , Ponte de Artéria Coronária , Estenose Coronária/fisiopatologia , Estenose Coronária/cirurgia , Anomalias dos Vasos Coronários/fisiopatologia , Anomalias dos Vasos Coronários/cirurgia , Ecocardiografia , Eletrocardiografia , Feminino , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/cirurgia , Humanos , Índice de Gravidade de Doença , Disfunção Ventricular Esquerda/fisiopatologia , Disfunção Ventricular Esquerda/cirurgia , Síndrome de Williams/fisiopatologia , Síndrome de Williams/cirurgiaRESUMO
We retrospectively reviewed smears detected by rapid review within a district general hospital (DGH) laboratory over a period of 33 months and the subsequent histological or cytological outcome. Sixty-three cases had adequate follow-up data: 32 subsequently had two negative smears and 31 had a histological abnormality on subsequent biopsy. Twenty were high-grade lesions (CIN2, CIN3 or a glandular lesion) and eight of these were preceded by a low-grade smear abnormality. We reviewed and compared the pattern and distribution of smear abnormalities in these 63 cases. Abnormalities were often present within few cells (76%, n = 48 with 50 abnormal cells or less) or in micro-biopsies (27%, n = 17). There was no statistical difference in the pattern and distribution of smear abnormality between the rapid review-detected smears with a biopsy-proven abnormality and those with negative follow-up smears. Overall, the positive predictive value for high-grade CIN detected by rapid review (75%) was within NHSCSP achievable standards targets. This review of rapid review-detected abnormalities and the biopsy and cytological follow-up reiterates the importance of the method in cervical screening.
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Hospitais Gerais , Programas de Rastreamento , Esfregaço Vaginal , Erros de Diagnóstico , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Humanos , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Reino UnidoRESUMO
We have identified miss-sense mutations in keratin 8 in a subset of patients with inflammatory bowel disease (Crohn disease and ulcerative colitis). Inflammatory bowel diseases are a group of disorders that are polygenic in origin and involve intestinal epithelial breakdown. We investigated the possibility that these keratin mutations might contribute to the course of the disease by adversely affecting the keratin filament network that provides mechanical support to cells in epithelia. The mutations (Gly62 to Cys, Ile63 to Val and Lys464 to Asn) all lie outside the major mutation hotspots associated with severe disease in epidermal keratins, but using a combination of in vitro and cell culture assays we show that they all have detrimental effects on K8/K18 filament assembly in vitro and in cultured cells. The G62C mutation also gives rise to homodimer formation on oxidative stress to cultured intestinal epithelial cells, and homodimers are known to be polymerization incompetent. Impaired keratin assembly resulting from the K8 mutations found in some inflammatory bowel disease patients would be predicted to affect the maintenance and re-establishment of mechanical resilience in vivo, as required during keratin cytoskeleton remodeling in cell division and differentiation, which may lead to epithelial fragility in the gut. Simple epithelial keratins may thus be considered as candidates for genes contributing to a risk of inflammatory bowel disease.
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Doenças Inflamatórias Intestinais/genética , Queratinas/genética , Mutação , Citoesqueleto de Actina/ultraestrutura , Animais , Anticorpos Monoclonais/química , Sequência de Bases , Diferenciação Celular , Cromossomos Humanos Par 12/ultraestrutura , Colite Ulcerativa/patologia , Doença de Crohn/genética , Dimerização , Eletroforese em Gel de Poliacrilamida , Humanos , Inflamação , Doenças Inflamatórias Intestinais/metabolismo , Queratina-8 , Queratinas/química , Queratinas/metabolismo , Camundongos , Modelos Genéticos , Dados de Sequência Molecular , Estresse Oxidativo , Polímeros/química , Ligação Proteica , Conformação Proteica , Análise de Sequência de DNA , Fatores de Tempo , Transfecção , XenopusRESUMO
Rodent cells are used widely to manufacture recombinant proteins for pharmaceutical use in humans and animals. However, all rodent cell lines express endogenous retroviruses that require appropriate testing regimes for identification and characterisation. In this communication we report the results of transmission electron microscopy, reverse transcriptase assay and infectious virus assays for retrovirus in 185 manufacturer cell banks of mouse, rat or hamster origin. The results indicated considerable variability of retroviral expression levels by transmission electron microscopy and reverse transcriptase assay, but nevertheless characteristic features of each cell type were observed. Infectious retrovirus was detected in mouse myeloma and hybridoma cell lines, but not in cell lines of hamster or rat origin. There was no evidence of contamination of cell banks with exogenous retrovirus. The results of retroviral characterisation of the parental mouse cell lines NS0, NS-1 and Sp2/0Ag14 by the above assays were consistent with the results of the survey. Co-cultivation of the above parental mouse cell lines with mouse and human cell lines suggested that the ability to infect human cells was related to threshold susceptibility of cell types and the levels of expression of infectious xenotropic retrovirus by mouse cells.