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PURPOSE: Vasomotor symptoms (VMS) are common among individuals with breast cancer (BC) and poorly managed symptoms are associated with reduced quality of life, treatment discontinuation, and poorer breast cancer outcomes. Direct comparisons among therapies are limited, as prior studies evaluating VMS interventions have utilized heterogeneous change measures which may not fully assess the perceived impact of change in VMS severity. METHODS: We performed a prospective study where BC patients chose one of four categories of interventions to manage VMS. Change in VMS severity at 6 weeks was assessed using the validated Hot Flush Rating Scale (HFRS). A novel weighted change score integrating baseline symptom severity and directionality of change was computed to maximize the correlation between the change score and a perceived treatment effectiveness score. Variables influencing change in VMS severity were included in a regression tree to model factors influencing the weighted change score. RESULTS: 100 baseline and follow-up questionnaires assessing VMS were completed by 88 patients. Correlations between treatment effectiveness and VMS outcomes strengthened following adjustment for baseline symptoms. Patients with low VMS severity at baseline did not perceive change in treatment effectiveness. Intervention category was predictive of change in HFRS at 6 weeks. CONCLUSION: Baseline symptom severity and the directionality of change (improvement or deterioration of symptoms) influenced the perception of clinically meaningful change in VMS severity. Future interventional studies utilizing the weighted change score should target moderate-high baseline severity patients.
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Neoplasias de la Mama , Sofocos , Calidad de Vida , Humanos , Femenino , Neoplasias de la Mama/terapia , Neoplasias de la Mama/psicología , Neoplasias de la Mama/complicaciones , Persona de Mediana Edad , Sofocos/terapia , Sofocos/etiología , Encuestas y Cuestionarios , Estudios Prospectivos , Anciano , Adulto , Índice de Severidad de la Enfermedad , Resultado del Tratamiento , Sistema Vasomotor/fisiopatologíaRESUMEN
AIMS AND OBJECTIVES: The purpose of this study was to assess the safety, feasibility and effectiveness of a nurse-led glaucoma assessment clinic service. BACKGROUND: Glaucoma is a group of serious, irreversible optic neuropathies that progressively damage the optic nerve resulting in blindness. Over 64.3 million people globally are affected by glaucoma with numbers projected to increase to 111.8 million by 2040. Glaucoma is a major public health concern that requires the development of innovative models of care to meet current and future health care demands. METHODS/DESIGN: A mixed method design was used to evaluate the assessment of non-complex glaucoma patients attending a new nurse-led clinic. Under an ophthalmologist's supervision, the glaucoma nurse completed 100 hof clinical training and assessment to ensure they were competent in completing and interpreting the required glaucoma assessment protocols. Interrater reliability between the glaucoma nurse and ophthalmology doctor was undertaken. Glaucoma patient waitlist appointment data were also compared before and after the introduction of the nurse-led clinics. This study adhered to the SQUIRE checklist for the reporting of excellence with quality improvement projects. PATIENT CONTRIBUTION: Patients contributed to the evaluation of this new nurse-led service by providing follow-up feedback on their experience. RESULTS: Agreement between clinicians for appropriate follow-up appointment times was high with 93% (n = 315) agreement achieved. Furthermore in 297 (87.5%) cases, both clinicians agreed on the patient being referred to the doctor for follow-up review. Glaucoma consultations were shown to increase from 3,115 appointments in 2019/20 to 3,504 appointments in 2020/21 after the introduction of the nurse-led clinic. The nurse-led clinics accounted for 14.5% (n = 512) of clinic appointments. CONCLUSIONS: The introduction of the nurse-led glaucoma assessment clinic service allowed patients to be reviewed safely, efficiently and satisfactorily. This new service subsequently allowed for more complex glaucoma patients to be seen by the ophthalmologists. RELEVANCE TO CLINICAL PRACTICE: Findings revealed that suitably trained glaucoma nurses are able to clinically assess and safely monitor stable non-complex glaucoma patients. Highlights the need for appropriate investment in clinical training and supervision to ensure that glaucoma assessment nurses are adequately prepared to undertake this new practice role.
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Glaucoma , Enfermeras y Enfermeros , Humanos , Rol de la Enfermera , Reproducibilidad de los Resultados , Glaucoma/diagnóstico , Instituciones de Atención AmbulatoriaRESUMEN
RATIONALE: Patient support lines (PSLs) assist in triaging clinical problems, addressing patient queries, and navigating a complex multi-disciplinary oncology team. While providing support and training to the nursing staff who operate these lines is key, there is limited data on their experience and feedback. METHODS: We conducted a cross-sectional study of oncology nurses' (ONs') perspectives on the provision of care via PSLs at a tertiary referral cancer center via an anonymous, descriptive survey. Measures collected included nursing and patient characteristics, nature of questions addressed, perceived patient and nursing satisfaction with the service, common challenges faced, and initiatives to improve the patient and nursing experience. The survey was delivered online, with electronic data collection, and analysis is reported descriptively. RESULTS: Seventy-one percent (30/42) of eligible ONs responded to the survey. The most common disease site, stage, and symptom addressed by PSLs were breast cancer, metastatic disease, and pain, respectively. The most common reported issue was treatment-related toxicity (96.7%, 29/30). Sixty-seven percent (20/30) of respondents were satisfied with the care provided by the service; however, many areas for potential improvement were identified. Fifty-nine percent (17/29) of respondents recommended redefining PSLs' responsibilities for improved use, with 75% (6/8) ONs identifying high call volumes due to inappropriate questions as a barrier to care. Sixty percent (18/30) of ONs reported having hospital-specific management plans for common issues would improve the care provided by the PSL. CONCLUSION: Despite high rates of satisfaction with the care provided by the PSL, our study identified several important areas for improvement which we feel warrant further investigation.
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Neoplasias , Enfermería Oncológica , Humanos , Estudios Transversales , Pacientes Ambulatorios , Teléfono , Neoplasias/terapia , Encuestas y CuestionariosRESUMEN
Increasing awareness of the extent of preventable harm from healthcare has led to efforts to improve patient safety through a variety of efforts, including legislation. Extending legal privilege to quality and safety reviews leads to further harm for many patients, families and healthcare providers. The intentional isolation, silencing and exclusion after the incident undermines trust, prevents learning and impedes an opportunity to heal and recover for all those directly involved. Our case study examines Section 51 of British Columbia's Evidence Act (1996) and concludes that amending this legislation is an urgent and necessary step toward trauma-informed care.
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Atención a la Salud , Seguridad del Paciente , Personal de Salud , HumanosRESUMEN
PURPOSE: Machine learning (ML) is a powerful tool for interrogating datasets and learning relationships between multiple variables. We utilized a ML model to identify those early breast cancer (EBC) patients at highest risk of developing severe vasomotor symptoms (VMS). METHODS: A gradient boosted decision model utilizing cross-sectional survey data from 360 EBC patients was created. Seventeen patient- and treatment-specific variables were considered in the model. The outcome variable was based on the Hot Flush Night Sweats (HFNS) Problem Rating Score, and individual scores were dichotomized around the median to indicate individuals with high and low problem scores. Model accuracy was assessed using the area under the receiver operating curve, and conditional partial dependence plots were constructed to illustrate relationships between variables and the outcome of interest. RESULTS: The model area under the ROC curve was 0.731 (SD 0.074). The most important variables in the model were as follows: the number of hot flashes per week, age, the prescription, or use of drug interventions to manage VMS, whether patients were asked about VMS in routine follow-up visits, and the presence or absence of changes to breast cancer treatments due to VMS. A threshold of 17 hot flashes per week was identified as being more predictive of severe VMS. Patients between the ages of 49 and 63 were more likely to report severe symptoms. CONCLUSION: Machine learning is a unique tool for predicting severe VMS. The use of ML to assess other treatment-related toxicities and their management requires further study.
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Neoplasias de la Mama , Sofocos , Neoplasias de la Mama/tratamiento farmacológico , Estudios Transversales , Femenino , Sofocos/inducido químicamente , Humanos , Aprendizaje Automático , Menopausia , Persona de Mediana Edad , SudoraciónRESUMEN
BACKGROUND: Despite the frequency of vasomotor symptoms (VMS) in patients with early breast cancer (EBC), their optimal management remains unknown. A patient survey was performed to determine perspectives on this important clinical challenge. METHODS: Patients with EBC experiencing VMS participated in an anonymous survey. Patients reported on the frequency and severity of VMS using the validated Hot Flush Rating Scale (HFRS) and ranked their most bothersome symptoms. Respondents were also asked to determine endpoints that defined effective treatment of VMS and report on the effectiveness of previously tried interventions. RESULTS: Responses were received from 373 patients, median age 56 years (range 23-83), who experienced an average of 5.0 hot flashes per day (SD 6.57). Patients reported the most bothersome symptoms to be feeling hot/sweating (155/316, 49%) and sleeping difficulties (86/316, 27%). Fifty-five percent (201/365) of patients would consider a treatment to be effective if it reduced night-time awakenings. While 68% of respondents were interested in trying interventions from their healthcare team to manage VMS, only 18% actually did so. Of the 137 patients who had tried an intervention for VMS, pharmacological treatments, exercise, and relaxation strategies were more likely to be effective, while therapies such as melatonin and black cohosh were deemed less effective. CONCLUSION: VMS are a common and bothersome problem for EBC patients, with a minority receiving interventions to manage these symptoms. Further research is needed to identify patient-centered strategies for managing these distressing symptoms.
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Neoplasias de la Mama , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/complicaciones , Neoplasias de la Mama/terapia , Femenino , Sofocos/etiología , Sofocos/terapia , Humanos , Menopausia/fisiología , Persona de Mediana Edad , Evaluación del Resultado de la Atención al Paciente , Sudoración , Adulto JovenRESUMEN
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and improved our understanding of physiological bile secretion and flow. By helping to define the molecular basis of certain cholestatic disorders, these methods have also identified new targets for therapy as well patient subgroups more likely to benefit from specific therapies. At the same time, sequencing methods have presented new diagnostic challenges, such as the interpretation of single heterozygous genetic variants. This article discusses those challenges in the context of neonatal and infantile cholestasis, focusing on difficulties in predicting variant pathogenicity, the possibility of other causal variants not identified by the genetic screen used, and phenotypic variability among patients with variants in the same genes. A prospective, observational study performed between 2010-2013, which sequenced six important genes (ATP8B1, ABCB11, ABCB4, NPC1, NPC2 and SLC25A13) in an international cohort of 222 patients with infantile liver disease, is given as an example of potential benefits and challenges that clinicians could face having received a complex genetic result. Further studies including large cohorts of patients with paediatric liver disease are needed to clarify the spectrum of phenotypes associated with, as well as appropriate clinical response to, single heterozygous variants in cholestasis-associated genes.
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Colestasis/genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Enfermedades del Recién Nacido/genética , Colestasis/diagnóstico , Sitios Genéticos , Humanos , Lactante , Recién Nacido , Enfermedades del Recién Nacido/diagnósticoRESUMEN
PURPOSE: Vasomotor symptoms (VMS) such as hot flashes and night sweats are common in breast cancer patients and can affect both quality of life and treatment adherence. However, there is limited practical data to guide clinicians in the optimal selection of therapeutic strategies. A survey of health care providers was performed to better understand perspectives and prescribing practices for managing this problem. METHODS: Canadian health care providers who treat patients with early stage breast cancer (EBC) participated in an anonymous electronic survey. Participants provided their perspectives on the prevalence and severity of VMS among patients with EBC, outlined their management strategies, and provided feedback on the perceived efficacy of interventions for VMS. RESULTS: Responses were received from 65 providers including breast oncologists (36/65, 55%) and nurses with oncology expertise (29/65, 45%). Seventy-seven percent of participants reported regularly asking patients about VMS, and most indicated that bothersome VMS occurred in the majority of patients. Health care providers cited hot flash severity and sleep disruption as the most important issues for patients. The most common first- and second-line interventions recommended were lifestyle modifications (n = 32/65, 49.2%) and pharmacologic strategies (n = 27/65, 41.5%), respectively. Most respondents felt that interventions, including pharmacologic, over-the-counter, and complementary therapies, were only "somewhat effective". Overall, half of respondents (n = 35/65, 54%) reported being "confident" in managing VMS. CONCLUSION: Given the variability of treatment recommendations, and health care provider uncertainty around the benefits of therapies for VMS, more 'real-world' trials are needed to optimize patient care.
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Neoplasias de la Mama , Menopausia , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/epidemiología , Canadá , Femenino , Personal de Salud , Sofocos/epidemiología , Sofocos/etiología , Sofocos/terapia , Humanos , Calidad de Vida , Encuestas y Cuestionarios , SudoraciónRESUMEN
Background. Many Australian primary schools have established school breakfast clubs (SBCs) to address concerns about children arriving at school hungry and the subsequent impact on learning but their effectiveness is uncertain. This study aimed to identify the perceived benefits, impacts, operational practices, and challenges of running SBCs. Method. Case studies with 10 Australian primary schools from different socioeconomic and geographic areas. Focus groups or interviews were held with 142 participants including students, parents/carers, school staff, and funding body representatives between July 2016 and October 2017. Results. There were no eligibility criteria to attend SBCs with all students able to attend, regardless of household income. Thus, participating in the SBC was often reported as a matter of choice rather than a consequence of food insecurity. Participants, including children, discussed the many social benefits of SBCs (i.e., social eating, relationship building, school connection, and engagement) as well as perceived improved classroom behavior. Challenges for program delivery included resource limitations, particularly, the reliance on volunteers and sourcing food. Discussion/Conclusion. SBCs offered a range of benefits beyond their primary goal of addressing food security. SBCs were highly valued by members of the school community for their social, welfare, well-being, and educational benefits, but program sustainability is constrained by resource limitations.
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Desayuno , Servicios de Alimentación , Australia , Niño , Inseguridad Alimentaria , Humanos , Instituciones AcadémicasRESUMEN
PURPOSE: Trastuzumab-based chemotherapy is usually administered through either a peripherally inserted central catheter (PICC) or a totally implanted vascular access device (PORT). As the most effective type of access is unknown, a feasibility trial, prior to conducting a large pragmatic trial, was undertaken. METHODS: The trial methodology utilized the integrated consent model incorporating oral consent. Patients receiving trastuzumab-based neo/adjuvant chemotherapy for early-stage breast cancer were randomized to a PICC or PORT insertion. Feasibility was reflected through a combination of endpoints; however, the a priori definition of feasibility was > 25% of patients approached agreed to randomization and > 25% of physicians approached patients. Secondary outcomes included rates of line-associated complications such as thrombotic events requiring anticoagulation, line infections or phlebitis. RESULTS: During the study period, 4/15 (26.7%) medical oncologists approached patients about study participation. Of 59 patients approached, 56 (94.9%) agreed to randomization, 29 (51.8%) were randomized to PICC and 27 (48.2%) to PORT access. Overall, 17.2% (5/29) and 14.8% (4/27) of patients had at least one line-associated complication in the PICC and PORT arms respectively. The study was terminated early due to slow accrual. CONCLUSION: The study met its feasibility endpoints with respect to patient and physician engagement. However, the slow rate of accrual (56 patients in 2 years) means that conducting a large pragmatic trial would require additional strategies to make such a study possible. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02632435.
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Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Neoplasias de la Mama/tratamiento farmacológico , Cateterismo Periférico/métodos , Dispositivos de Acceso Vascular , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Carboplatino/administración & dosificación , Catéteres de Permanencia , Quimioterapia Adyuvante , Ciclofosfamida/administración & dosificación , Docetaxel/administración & dosificación , Femenino , Humanos , Persona de Mediana Edad , Terapia Neoadyuvante , Estadificación de Neoplasias , Trastuzumab/administración & dosificaciónRESUMEN
PURPOSE: All vascular access strategies foradministering chemotherapy in early stage breast cancer (EBC) are associated with risks and benefits. As the most effective type of access is unknown a feasibility trial, prior to conducting a large pragmatic trial, was undertaken. METHODS: The trial methodology utilized broad eligibility criteria and the integrated consent model incorporating oral consent. EBC patients receiving non-trastuzumab-containing chemotherapy were randomized to peripheral access or central line insertion. The a priori definition of feasibility was: > 25% of patients approached agreed to randomisation and > 25% of physicians approached patients. Secondary outcomes included rates of line-associated complications. RESULTS: Of 159 patients approached, 150 (94.3%) agreed to randomisation, 77 (51.3%) were randomized to peripheral and 73 (48.7%) to central access. 6/26 (23.1%) of medical oncologists approached patients. Rates of complications per chemotherapy cycles in the peripheral vs central access groups with risk difference (RD) (95% CI) were: thrombotic events requiring anticoagulation [1 (0.3%) vs. 3 (1.0%), RD - 0.7(- 1.9,0.5)], line infections [0 (0%) vs. 1 (0.3%), RD - 0.3(- 0.9,0.3)], phlebitis [2 (0.6%) vs. 0 (0%), RD 0.3(- 0.3,0.8)], and tissue infiltrations [4 (1.1%) vs. 1 (0.3%), RD 0.8(- 0.4,2.1)]. Overall, 8.0% (6/75) and 7.7% (5/65) of patients had at least one of these complications in the peripheral and central access arms respectively [RD - 0.9(- 9.4,7.6)]. The study was terminated early due to slow accrual. CONCLUSION: While meeting its a priori feasibility criteria for patient engagement, the slow accrual means that conducting a large pragmatic trial would require overcoming the barriers to physician recruitment. TRIAL REGISTRATION: NCT02688998.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/patología , Neovascularización Patológica/tratamiento farmacológico , Adulto , Anciano , Anciano de 80 o más Años , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Neoplasias de la Mama/mortalidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Proyectos Piloto , Resultado del Tratamiento , Adulto JovenRESUMEN
Mental health peer work is attracting growing interest and provides a potentially impactful method of service user involvement in mental health design and delivery, contributing to mental health reform. The need to effectively support this emerging workforce is consequently increasing. This study aimed to better understand the views of management in relation to peer work and specifically explores the value of peer work from the perspective of management. This qualitative research employed grounded theory methods. There were 29 participants in total, employed in both peer designated and non-peer designated management roles, in not for profit and public health organisations in Queensland, Australia. The value of peer work as described by participants is found to be partially dependent on practical supports and strategies from the organisation. There were high benefits for all facets of the organisation when effective recruitment and ongoing support for peer workers was prioritised and a higher perception of limitations when they were not. Due to some parallels, it may be useful to explore the potential for peer work to be conceptually and/or practically considered as a form of diversity and inclusion employment.
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Servicios de Salud Mental/organización & administración , Grupo Paritario , Teoría Fundamentada , Humanos , Salud Mental , Investigación Cualitativa , QueenslandRESUMEN
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
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Síndrome de Beckwith-Wiedemann/diagnóstico , Síndrome de Beckwith-Wiedemann/terapia , Consenso , Síndrome de Beckwith-Wiedemann/complicaciones , Síndrome de Beckwith-Wiedemann/genética , Variaciones en el Número de Copia de ADN , Metilación de ADN , Humanos , Técnicas de Diagnóstico Molecular , Neoplasias de Células Germinales y Embrionarias/etiología , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal , Técnicas Reproductivas AsistidasRESUMEN
Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular atrophy (SMA). Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single-nucleotide polymorphisms across a 6 Mb genomic window on chromosome 5 containing the SMN1 gene. Maternal, paternal and proband DNA samples were also tested for haplotyping purposes. Sequencing data was analysed by relative haplotype dosage (RHDO). Six pregnant SMA carriers and 10 healthy pregnant donors were recruited through the NIPSIGEN study. Inheritance of the maternally and paternally derived alleles of the affected SMN1 gene was determined in the foetus by RHDO analysis for autosomal-recessive disorders. DNA from the proband (for SMA carriers) or an invasively obtained foetal sample (for healthy pregnant donors) was used to identify the maternal and paternal reference haplotypes associated with the affected SMN1 gene. Results for all patients correlated with known outcomes and showed a testing specificity and sensitivity of 100%. On top of showing high accuracy and reliability throughout the stages of validation, our novel test for NIPD of SMA is also affordable and viable for implementation into clinical service.
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Pruebas Genéticas/métodos , Haplotipos , Atrofia Muscular Espinal/diagnóstico , Diagnóstico Prenatal/métodos , Estudios de Casos y Controles , Femenino , Pruebas Genéticas/normas , Heterocigoto , Humanos , Masculino , Atrofia Muscular Espinal/genética , Linaje , Polimorfismo de Nucleótido Simple , Embarazo , Diagnóstico Prenatal/normas , Sensibilidad y Especificidad , Proteína 1 para la Supervivencia de la Neurona Motora/genéticaRESUMEN
Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.
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Síndrome de Beckwith-Wiedemann/genética , Cromosomas Humanos Par 11/genética , Pruebas Genéticas/normas , Guías de Práctica Clínica como Asunto , Síndrome de Silver-Russell/genética , Síndrome de Beckwith-Wiedemann/diagnóstico , Europa (Continente) , Impresión Genómica , Humanos , Síndrome de Silver-Russell/diagnóstico , Sociedades MédicasRESUMEN
OBJECTIVE: Development of an accurate and affordable test for the non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. METHOD: Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dystrophin gene on chromosome X. Sequencing data were analysed by relative haplotype dosage. RESULTS: Seven healthy pregnant donors and two pregnant DMD carriers all bearing a male fetus were recruited through the non-invasive prenatal diagnosis for single gene disorders study. Non-invasive prenatal diagnosis testing was conducted by relative haplotype dosage analysis for X-linked disorders where the genomic DNA from the chorionic villus sampling (for healthy pregnant donors) or from the proband (for pregnant DMD carriers) was used to identify the reference haplotype. Results for all patients showed a test accuracy of 100%, when the calculated fetal fraction was >4% and correlated with known outcomes. A recombination event was also detected in a DMD patient. CONCLUSION: Our new test for NIPD of DMD/BMD has been shown to be accurate and reliable during initial stages of validation. It is also feasible for implementation into clinical service.
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Distrofina/genética , Pruebas Genéticas/métodos , Haplotipos , Pruebas de Detección del Suero Materno/métodos , Distrofia Muscular de Duchenne/diagnóstico , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , Sistema Libre de Células , ADN/sangre , Femenino , Marcadores Genéticos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Distrofia Muscular de Duchenne/genética , EmbarazoAsunto(s)
Aeromonas hydrophila , Enfermedades de los Perros/microbiología , Glomérulos Renales/microbiología , Úlcera Cutánea/veterinaria , Enfermedades Vasculares/veterinaria , Animales , Perros , Exposición a Riesgos Ambientales/efectos adversos , Estaciones del Año , Úlcera Cutánea/microbiología , Reino Unido , Enfermedades Vasculares/microbiologíaAsunto(s)
Aeromonas hydrophila/aislamiento & purificación , Enfermedades de los Perros/microbiología , Infecciones por Bacterias Gramnegativas/veterinaria , Glomérulos Renales/patología , Úlcera Cutánea/veterinaria , Enfermedades Vasculares/veterinaria , Animales , Investigación Biomédica , Perros , Infecciones por Bacterias Gramnegativas/microbiología , Úlcera Cutánea/microbiología , Reino Unido , Enfermedades Vasculares/microbiologíaRESUMEN
INTRODUCTION AND AIMS: Few studies of the implementation of alcohol brief interventions (ABI) have been conducted in community settings such as mental health, social work and criminal justice teams. This qualitative interview study sought to explore the impact of training on ABI delivery by staff from a variety of such teams. DESIGN AND METHODS: Fifteen semi-structured telephone interviews were carried out with trained practitioners and with managers to explore the use of, perceived need for and approaches to ABI delivery and recording with clients, and compatibility of ABIs with current practice. Interviews were analysed thematically using an inductive approach. RESULTS: Very few practitioners reported delivery of any ABIs following training primarily because they felt ABIs to be inappropriate for their clients. According to practitioners, this was either because they drank too much or too little to benefit. Practitioners reported a range of current activities relating to alcohol, and some felt that their knowledge and confidence were improved following training. One practitioner reported ABI delivery and was considered a training success, while expectations of ABIs did not fit with current practice including assessment procedures for the remainder. DISCUSSION AND CONCLUSIONS: Identified barriers to ABI delivery included issues relating to individual practitioners, their teams, current practice and the ABI model. They are likely to be best addressed by strategic team- and setting-specific approaches to implementation, of which training is only one part.