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BACKGROUND: The incidence of cancer diagnosed during pregnancy is increasing. Data relating to investigation and management, as well as maternal and foetal outcomes is lacking in a United Kingdom (UK) population. METHODS: In this retrospective study we report data from 119 patients diagnosed with cancer during pregnancy from 14 cancer centres in the UK across a five-year period (2016-2020). RESULTS: Median age at diagnosis was 33 years, with breast, skin and haematological the most common primary sites. The majority of cases were new diagnoses (109 patients, 91.6%). Most patients were treated with radical intent (96 patients, 80.7%), however, gastrointestinal cancers were associated with a high rate of palliative intent treatment (63.6%). Intervention was commenced during pregnancy in 68 (57.1%) patients; 44 (37%) had surgery and 31 (26.1%) received chemotherapy. Live births occurred in 98 (81.7%) of the cases, with 54 (55.1%) of these delivered by caesarean section. Maternal mortality during the study period was 20.2%. CONCLUSIONS: This is the first pan-tumour report of diagnosis, management and outcomes of cancer diagnosed during pregnancy in the UK. Our findings demonstrate proof of concept that data collection is feasible and highlight the need for further research in this cohort of patients.
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Cesárea , Neoplasias , Embarazo , Humanos , Femenino , Estudios Retrospectivos , Neoplasias/diagnóstico , Neoplasias/epidemiología , Neoplasias/terapia , Reino Unido/epidemiología , Nacimiento VivoRESUMEN
Growing evidence of the association between health professionals' well-being and patient and organisational outcomes points to the need for effective staff support. This paper reports a brief survey of the UK's children's cancer Principal Treatment Centres (PTCs) regarding staff support systems and practices. A short on-line questionnaire, administered in 2012-2013, collected information about the availability of staff support interventions which seek to prevent work-related stress among different members of the multi-disciplinary team (MDT). It was completed by a member of staff with, where required, assistance from colleagues. All PTCs (n = 19) participated. Debriefs following a patient death was the most frequently reported staff support practice. Support groups were infrequently mentioned. There was wide variability between PTCs, and between professional groups, regarding the number and type of interventions available. Doctors appear to be least likely to have access to support. A few Centres routinely addressed work-related stress in wider staff management strategies. Two Centres had developed a bespoke intervention. Very few Centres were reported to actively raise awareness of support available from their hospital's Occupational Health department. A minority of PTCs had expert input regarding staff support from clinical psychology/liaison psychiatry.
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Instituciones Oncológicas , Personal de Salud/psicología , Salud Laboral , Estrés Laboral/prevención & control , Pediatría , Adulto , Niño , Humanos , Persona de Mediana Edad , Reino UnidoRESUMEN
The reasons why teenagers and young adults (TYA) with cancer do, or do not, participate in clinical trials is not wholly understood. We explored the perceptions and experiences of young people with bone cancer, and health professionals involved in their care, with regard to participation in two clinical trials. We conducted semi-structured interviews using narrative inquiry with 21 young people aged 15-24 years and 18 health professionals. New understandings emerged about perceptions of, and factors that influence participation in, clinical trials. These include perceptions about the importance and design of the clinical trial, communicating with young people in an age-specific manner, using language young people are comfortable with, support from family, peers and specialists in teenage and young adult cancer care. We conclude that addressing these factors may increase acceptability of clinical trials and the trial design for TYA with cancer and ultimately improve their participation. Qualitative research has an important role in making explicit the perceptions and practices that ensure trials are patient-centred, appropriate and communicated effectively to TYA. Translating knowledge gained into routine practice, will go some way in ensuring that the disparities affecting this population are more fully understood.
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Actitud del Personal de Salud , Neoplasias Óseas , Ensayos Clínicos como Asunto , Participación del Paciente , Adolescente , Actitud , Femenino , Humanos , Masculino , Aceptación de la Atención de Salud , Investigación Cualitativa , Participación de los Interesados , Adulto JovenRESUMEN
BACKGROUND: The need to review health service provision for children and young people (CYP) with disabilities and their families in the United Kingdom has been expressed in multiple reports: the most consistent message being that services need to be tailored to meet their individual needs. Our aim was to understand the hospital-related needs and experiences of CYP with intellectual disabilities. METHOD: An ethnographic study of a neurosciences ward and outpatient department was conducted within a paediatric tertiary hospital setting. RESULTS: Five themes, developed using the acronym LEARN, explained what is important to CYP with intellectual disabilities in hospital: (i) little things make the biggest difference, (ii) eliminate unnecessary waiting, (iii) avoid boredom, (iv) routine and home comforts are key and (v) never assume. CONCLUSIONS: It is imperative that the present authors continue to challenge the idea that it is acceptable to exclude CYP with intellectual disabilities from research because of their inability to participate.
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Adolescente Hospitalizado/psicología , Niño Hospitalizado/psicología , Hospitales Pediátricos , Discapacidad Intelectual/psicología , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
AIM: The objective of this study was to undertake a research priority setting exercise with the aim of maximizing efficiency and impact in research activity undertaken by nurses at one children's tertiary healthcare institution by ensuring the clinical staff directly shaped a coherent, transparent and consensus driven nurse-led research agenda. BACKGROUND: In Round 1, the research topics of 147 nurses were elicited using a modified nominal group technique as the consensus method. The number of participants in the 24 separate discussions ranged from 3 to 21, generating lists of between 6 and 23 topics. In Round 2, nurses from the clinical areas ranked topics of importance resulting in a set of four to five priorities. In Round 3, the divisional heads of nursing consulted with staff in all of their clinical areas to each finalize their five divisional priorities. The Nursing Research Working Group discussed and refined the divisions' priorities and voted on the final list to agree the top five research priorities for the organization. RESULTS: A total of 269 research topics were initially generated. Following three rounds of ranking and prioritizing, five priorities were agreed at Divisional level, and from these, the five top organizational priorities were selected. These were (i) understanding and improving all aspects of the patient journey through the hospital system; (ii) play; (iii) staff wellbeing, patient care and productivity; (iv) team work - linking to a more efficient service; and (v) supporting parents/parent pathway. CONCLUSIONS: Divisional priorities have been disseminated widely to clinical teams to inform a patient-specific nurse-led research agenda. Organizational priorities agreed upon have been disseminated through management structures and processes to ensure engagement at all levels. A subgroup of the Nursing Research Working Group has been delegated to take this work forward so that the agreed priorities continue to contribute towards shaping nurse-led research activity, thereby going some way to inform and embed an evidence-based culture of inquiry.
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Hospitales Pediátricos/organización & administración , Enfermeras Pediátricas/psicología , Investigación en Enfermería/organización & administración , Centros de Atención Terciaria/organización & administración , Actitud del Personal de Salud , Niño , Humanos , Londres , Investigación en Enfermería/estadística & datos numéricos , Personal de Enfermería en Hospital/psicología , Enfermería Pediátrica/organización & administraciónRESUMEN
OBJECTIVE: Young people with cancer exhibit unique needs. During a time of normal physical and psychological change, multiple disease and treatment-related symptoms cause short and long-term physical and psychosocial effects. Little is known about how young people cope with the impact of cancer and its treatment on daily routines and their strategies to manage the challenges of cancer and treatments. We aimed to determine how young people describe these challenges through a social media site. METHODS: Using the principles of virtual ethnography and watching videos on a social media site we gathered data from young people describing their cancer experience. Qualitative content analysis was employed to analyse and interpret the narrative from longitudinal 'video diaries' by 18 young people equating to 156 films and 27 h and 49 min of recording. Themes were described then organized and clustered into typologies grouping commonalities across themes. RESULTS: Four typologies emerged reflective of the cancer trajectory: treatment and relenting side effects, rehabilitation and getting on with life, relapse, facing more treatment and coming to terms with dying. CONCLUSIONS: This study confirms the need for young people to strive towards normality and creating a new normal, even where uncertainty prevailed. Strategies young people used to gain mastery over their illness and the types of stories they choose to tell provide the focus of the main narrative. Social Media sites can be examined as a source of data, to supplement or instead of more traditional routes of data collection known to be practically challenging with this population. Copyright © 2016 John Wiley & Sons, Ltd.
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Neoplasias/psicología , Medios de Comunicación Sociales , Apoyo Social , Incertidumbre , Adaptación Psicológica , Femenino , Humanos , Masculino , Proyectos de Investigación , Resiliencia Psicológica , Estrés Psicológico/psicología , Adulto JovenRESUMEN
This study examined participants' views on children's participation in information-sharing and communication interactions. A descriptive qualitative approach was taken with individual interviews held with children (The term 'children' is used to denote both children and adolescents and to avoid cumbersome repetition.) aged 7-16 years (n = 20), their parents (n = 22) and healthcare professionals (n = 40) at a children's hospital in Ireland. Data were analysed using the constant comparative method and managed with NVivo (version 8). The findings indicate that professionals strongly supported an open and honest approach to information-sharing; however, this viewpoint was not shared by all parents. The need to maintain hope and spirit and promote an optimistic identity influenced the amount and type of information shared by parents. Children trusted their parents to share information, and valued their parents' role as interpreters of information, advocates, and communication buffers. Most professionals endorsed parents' primacy as managers of information but experienced difficulty navigating a restricted stance. This study adds important insights into the complexities of information-sharing in triadic encounters. Professionals need to maintain an open mind about information-sharing strategies families may choose, remain sensitive to parents and children's information requirements and adopt a flexible approach to information provision.
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Actitud del Personal de Salud , Revelación , Neoplasias/psicología , Padres/psicología , Participación del Paciente/psicología , Adolescente , Niño , Comunicación , Toma de Decisiones , Femenino , Humanos , Irlanda , Masculino , Autonomía Personal , Investigación CualitativaRESUMEN
BACKGROUND: There are gaps in the existing evidence base about assent, with conflicting and unhelpful views prevalent. We contend that appropriate assent is a valuable process that has important consequences for children's/young people's participation in research. Furthermore, there is a need for a model to support researchers in making decisions about who to assent and how to do this is a meaningful way. METHODS: We undertook a scoping review of the literature to assess the body of opinion on assent in research with children/young people. An anonymous online survey was conducted to gather views from the wider community undertaking research with children/young people. We also sought to gather examples of current and effective practice that could be shared beyond the level of a single institution and our own experience. Survey participants included 48 health professionals with varied levels of experience, all actively involved in research with children. RESULTS: Published work, the findings from the online survey and our knowledge as experienced researchers in the field have confirmed four domains that should be considered in order for assent to be meaningful and individualized: child-related factors, family dynamics, study design and complexity and researcher and organizational factors. Mapping these domains onto the three paradigm cases for decision-making around children and young people's assent/consent as recommended by the Nuffield Council on Bioethics has resulted in a model that will aid researchers in understanding the relationship between assent and consent and help them make decisions about when assent is appropriate. CONCLUSIONS: The debate about assent needs to move away from terminology, definition and legal issues. It should focus instead on practical ways of supporting researchers to work in partnership with children, thus ensuring a more informed, voluntary and more robust and longer lasting commitment to research.
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Investigación Biomédica/ética , Investigación Biomédica/métodos , Consentimiento Informado/ética , Participación del Paciente , Pediatría/ética , Pediatría/métodos , Niño , Comprensión , Toma de Decisiones , Práctica Clínica Basada en la Evidencia , Guías como Asunto , Humanos , Competencia MentalRESUMEN
BACKGROUND AND OBJECTIVE: Periodontal disease is a highly complex chronic inflammatory disease of the oral cavity. Multiple factors influence periodontal disease, including socio-economic status, genetics and age; however, inflammation elicited by the presence of specific bacteria in the subgingival space is thought to drive the majority of soft- and hard-tissue destruction. Porphyromonas gingivalis is closely associated with periodontal disease. Toll-like receptors (TLRs) and their intracellular signaling pathways play roles in the host response to P. gingivalis. The focus of the current study was to use microarray analysis to define the contributions of the TLR adaptor molecules myeloid differentiation factor 88 (MyD88) and Toll/interleukin-1 receptor domain-containing adaptor inducing interferon-beta (TRIF), and aging, on the expression of TLR pathway-associated mRNAs in response to P. gingivalis. MATERIAL AND METHODS: Bone marrow-derived macrophages (BMØ) from wild-type (Wt), MyD88 knockout (MyD88-KO) and Trif(Lps2) [i.e. containing a point mutation in the lipopolysaccharide 2 (Lps2) gene rendering the Toll/interleukin (IL)-1 receptor domain-containing adaptor inducing interferon-beta (TRIF) protein nonfunctional] mice, at 2-and 12-mo of age, were cultured with P. gingivalis. Expression of genes in BMØ cultured with P. gingivalis was determined in comparison with expression of genes in BMØ cultured in medium only. RESULTS: Using, as criteria, a twofold increase or decrease in mRNA expression, differential expression of 32 genes was observed when Wt BMØ from 2-mo-old mice were cultured with P. gingivalis compared with the medium-only control. When compared with 2-mo-old Wt mice, 21 and 12 genes were differentially expressed (p < 0.05) as a result of the mutations in MyD88 or TRIF, respectively. The expression of five genes was significantly (p < 0.05) reduced in Wt BMØ from 12-mo-old mice compared with those from 2-mo-old mice following culture with P. gingivalis. Age also influenced the expression of genes in MyD88-KO and Trif(Lps2) mice challenged with P. gingivalis. CONCLUSIONS: Our results indicate that P. gingivalis induces differential expression of TLR pathway-associated genes, and both MyD88 and TRIF play roles in the expression of these genes. Age also played a role in the expression of TLR-associated genes following stimulation of BMØ with P. gingivalis.
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Proteínas Adaptadoras del Transporte Vesicular/genética , Envejecimiento/genética , Factor 88 de Diferenciación Mieloide/genética , Porphyromonas gingivalis/inmunología , Transducción de Señal/genética , Receptores Toll-Like/genética , Envejecimiento/inmunología , Animales , Células de la Médula Ósea/inmunología , Células Cultivadas , Perfilación de la Expresión Génica , Regulación de la Expresión Génica/genética , Técnicas de Inactivación de Genes , Interacciones Huésped-Patógeno/genética , Interacciones Huésped-Patógeno/inmunología , Lipopolisacáridos/genética , Macrófagos/inmunología , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Análisis por Micromatrices , Mutación Puntual/genéticaRESUMEN
OBJECTIVES: To review the history of newborn screening for sickle cell disease with especial reference to Jamaica. METHODS: A summary was done of the history, the development of associated laboratory technology and the implementation of newborn screening for sickle cell disease in Jamaica. RESULTS: Screening was initiated at Victoria Jubilee Hospital, Kingston from 1973-1981, reactivated in 1995 and extended to the University Hospital of the West Indies in 1997 and to Spanish Town Hospital in 1998. From August 2008, there was a progressive recruitment of 12 hospitals in the south and west of Jamaica which has raised the frequency of islandwide newborn coverage from 25% in 1973 to 81%. The results of this extended programme in southwest Jamaica are presented. Dried blood spots collected from the umbilical cord proved stable, cheap and efficient; mean sample collection rates were 98%, maternal contamination occurred in < 1% and caused diagnostic confusion in < 0.1%. By March 31, 2015, a total of 54 566 births have been screened, detecting 161 with homozygous sickle cell (SS) disease, 125 with sickle cell-haemoglobin C (SC) disease and 36 with sickle cell-beta thalassaemia. Of the 327 babies with clinically significant sickle cell syndromes, all except five who died within seven days of birth were confirmed by four to six weeks and recruited to local sickle cell clinics. CONCLUSION: Early detection of sickle cell disease and recruitment to clinics is known to reduce its morbidity and mortality. The methods currently detailed provide an effective and economic model of newborn screening which may be of value elsewhere.
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OBJECTIVES: To raise awareness of significant iron deficiency anaemia occurring in Jamaican secondary school students. METHODS: Haematological screening of students in the fifth and sixth forms of 14 secondary schools in the parishes of Manchester and Clarendon, Jamaica, was done. Samples were subject to haemoglobin electrophoresis, examination of haematological indices, and haemoglobin, alpha 2 (HbA2) levels where indicated. RESULTS: Of 13 172 students with normal haemoglobin (AA) genotype aged 15-19 years, haemoglobin levels below 10 g/dL occurred in 0.36% of males and in 3.79% females. These subjects had low mean red cell volumes, low mean cell haemoglobin and high red cell distribution width, characteristic of iron deficiency, which was confirmed by dramatic increases in haemoglobin level following iron supplementation. Most revealed classic symptoms, histories of poor diets and pica, which generally resolved on iron supplementation. CONCLUSIONS: Iron deficiency, even in the absence of anaemia, is known to limit physical and mental functions and may impair intellectual performance in these high school students. Significant anaemia could be detected by incorporating a blood test into the school medical assessments performed on entry to secondary schools. There is a need for simple oral iron medications to be available at health centres.
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STUDY QUESTION: Is anxiety focused on the pregnancy outcome, known to be particularly salient in women conceiving through assisted reproductive technology (ART), related to difficult infant temperament? SUMMARY ANSWER: While trait anxiety predicts infant temperament, pregnancy-focused anxiety is not associated with more difficult infant temperament. WHAT IS KNOWN ALREADY: A large body of research has provided convincing evidence that fetal exposure to maternal anxiety and stress in pregnancy has adverse consequences for child neurodevelopmental, behavioural and cognitive development, and that pregnancy-specific anxiety (concerns related to the pregnancy outcome and birth) may be of particular significance. Women conceiving through ART are of particular interest in this regard. Research over more than 20 years has consistently demonstrated that while they do not differ from spontaneously conceiving (SC) women with respect to general (state and trait) anxiety, they typically report higher pregnancy-specific anxiety. While research suggests normal behavioural and developmental outcomes for children conceived through ART, there is some evidence of more unsettled infant behaviour during the first post-natal year. STUDY DESIGN, SIZE, DURATION: The longitudinal cohort design followed 562 nulliparous women over a 7-month period, during the third trimester of pregnancy and at 4 months after birth. PARTICIPANTS/MATERIALS, SETTING, METHODS: Approximately equal numbers of nulliparous women conceiving through ART (n = 250) and spontaneously (SC: n = 262) were recruited through ART clinics and nearby hospitals in Melbourne and Sydney, Australia. Participants completed three anxiety measures (state, trait, pregnancy specific) at time 1 in the third trimester of pregnancy and a measure of infant temperament at time 2, 4 months after birth. At time 1, relevant socio-demographic, pregnancy (maternal age, smoking, alcohol, medications, medical complications) information was recorded and at time 2, information regarding childbirth (gestation, infant birthweight, mode of delivery) and post-natal (concurrent mood) variables was recorded and controlled for in analyses. MAIN RESULTS AND THE ROLE OF CHANCE: In the third trimester of pregnancy, women conceiving through ART reported lower state and trait anxiety, but higher pregnancy-focused anxiety than their SC counterparts (all Ps < 0.05). Hierarchical regression analyses including mode of conception, all anxiety variables and relevant covariates indicated that while trait anxiety in pregnancy predicted more difficult infant temperament (P < 0.001), pregnancy specific and state anxiety did not. Mode of conception predicted infant temperament; with ART women reporting less difficult infant temperament (P < 0.001) than their SC counterparts. LIMITATIONS, REASONS FOR CAUTION: The major limitations in the study are the reliance on a self-report measure of infant temperament and the fact that the study did not assess quality of caregiving which may moderate the effect of pregnancy anxiety on infant temperament. WIDER IMPLICATIONS OF THE FINDINGS: This study is the first to our knowledge to prospectively examine the impact of gestational stress (pregnancy anxiety) on infant temperament in women conceiving through ART. Findings confirm existing research indicating that trait anxiety in pregnancy is associated with difficult infant temperament and suggest that pregnancy-specific anxiety (measured in the third trimester) is not implicated. These findings are reassuring for women conceiving through ART whose pregnancies may be characterized by particularly intense concerns about the wellbeing of a long sought after baby. STUDY FUNDING/COMPETING INTEREST(S): The study was funded by a grant from the Australian Research Council (ARC) and in kind and financial contributions from IVF Australia and Melbourne. TRIAL REGISTRATION NUMBER: N/A.
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Ansiedad/complicaciones , Complicaciones del Embarazo/psicología , Efectos Tardíos de la Exposición Prenatal/epidemiología , Técnicas Reproductivas Asistidas/psicología , Temperamento , Femenino , Fertilización , Humanos , Lactante , Estudios Longitudinales , Análisis Multivariante , Embarazo , Tercer Trimestre del EmbarazoRESUMEN
Large numbers of central venous catheters (CVCs) are placed each year and misplacement occurs frequently. This review outlines the normal and abnormal anatomy of the central veins in relation to the placement of CVCs. An understanding of normal and variant anatomy enables identification of congenital and acquired abnormalities. Embryological variations such as a persistent left-sided superior vena cava are often diagnosed incidentally only after placement of a CVC, which is seen to take an abnormal course on X-ray. Acquired abnormalities such as stenosis or thrombosis of the central veins can be problematic and can present as a failure to pass a guidewire or catheter or complications after such attempts. Catheters can also be misplaced outside veins in a patient with otherwise normal anatomy with potentially disastrous consequences. We discuss the possible management options for these patients including the various imaging techniques used to verify correct or incorrect catheter placement and the limitations of each. If the course of a misplaced catheter can be correctly identified as not lying within a vulnerable structure then it can be safely removed. If the misplaced catheter is lying within or traversing large and incompressible arteries or veins, it should not be removed before consideration of what is likely to happen when it is removed. Advice and further imaging should be sought, typically in conjunction with interventional radiology or vascular surgery. With regard to misplaced CVCs, in the short term, a useful aide memoir is: 'if in doubt, don't take it out'.
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Cateterismo Venoso Central/efectos adversos , Venas/anatomía & histología , Adulto , Arterias/lesiones , Anomalías Cardiovasculares/patología , Cateterismo Venoso Central/métodos , Cateterismo Venoso Central/normas , Catéteres Venosos Centrales , Venas Cerebrales/anatomía & histología , Niño , Humanos , Errores Médicos , Agujas , Ultrasonografía Intervencional , Venas/anomalías , Venas/diagnóstico por imagen , Vena Cava Inferior/anatomía & histología , Vena Cava Superior/anatomía & histologíaRESUMEN
PURPOSE: A Delphi study was undertaken to develop a framework guidance that would rationalise and standardise the care of children with febrile neutropenia (FNP) across the UK. METHODS: A mailed Delphi survey was undertaken with health professionals working in children's cancer units. The survey employed two rounds of feedback on 22 practice statements drawn from a systematic review of clinical evidence. Consensus was assumed for any statement where 80+ % of respondents indicated that they "agreed" or "strongly agreed". RESULTS: Consensus was reached on 21 of the 22 practice statements in round 1 that were categorised into six areas: definition of fever and neutropenia, initial management and choice of antibiotic, defining low-risk patients, strategy in low-risk patients and alternative approaches. Consensus could not be reached on whether patients needed to be afebrile to be suitable for discharge and the required length of outpatient antibiotic treatment. CONCLUSIONS: A Delphi survey allowed the successful development of a national framework for identification and management of children with FNP. The use of an existing well-functioning professional network was key in this project's success.
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Fiebre/terapia , Neoplasias/terapia , Neutropenia/terapia , Guías de Práctica Clínica como Asunto , Adolescente , Antibacterianos/administración & dosificación , Antibacterianos/uso terapéutico , Niño , Consenso , Recolección de Datos , Técnica Delphi , Fiebre/etiología , Humanos , Neutropenia/etiología , Factores de Riesgo , Factores de Tiempo , Reino UnidoRESUMEN
The objective of this study was to review the prevalence and features of the beta thalassaemia trait in Jamaican populations. Screening of 221,306 newborns over the last 46 years has given an indication of the distribution and prevalence of beta thalassaemia genes, and screening of 16,612 senior school students in Manchester parish, central Jamaica, has provided their haematological features. The prevalence of the beta thalassaemia trait predicted from double heterozygotes was 0.8% of 100,000 babies in Kingston, 0.9% of 121,306 newborns in southwest Jamaica, and 0.9% of school students in Manchester. Mild beta+ thalassaemia variants (-88 C>T, -29 A>G, -90 C>T, polyA T>C) accounted for 75% of Kingston newborns, 76% of newborns in southwest Jamaica, and 89% of Manchester students. Severe beta+ thalassaemia variants were uncommon. Betao thalassaemia variants occurred in 43 patients and resulted from 11 different variants of which the IVSII-849 A>G accounted for 25 (58%) subjects. Red cell indices in IVSII-781 C>G did not differ significantly from HbAA, and this is probably a harmless polymorphism rather than a form of beta+ thalassaemia; the removal of 6 cases in school screening had a minimal effect on the frequency of the beta thalassaemia trait. Red cell indices in the beta+ and betao thalassaemia traits followed established patterns, although both were associated with increased HbF levels. The benign nature of beta+ thalassaemia genes in Jamaica means that cases of sickle cell-beta+ thalassaemia are likely to be overlooked, and important clinical questions such as the role of pneumococcal prophylaxis remain to be answered.
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It is well known and often reported that patients with long-term health conditions have problems adhering to treatment regimens. This is often reportedly worst in adolescents who struggle with the physical and psychological impact of adolescence as well as with the limitations that treatment regimens impose on their day-to-day activities. This article presents results from a larger study that aimed to discover what living with haemophilia in the 21st century was like for boys with severe haemophilia. The overall study was a multi-method, cross-sectional interview based study of 30 boys with severe haemophilia, treated with prophylaxis at a single site in the UK. Although not specifically asked in the interview schedule, opinions about treatment (prophylaxis) were given by 66% of the boys. These boys recognized that prophylaxis offered them protection from bleeding, the older and more sporty boys understood the need for tailored prophylaxis around 'risk' activities such as sport or events away from home. For some boys this meant low dose daily prophylaxis, and this further enhanced treatment adherence, as it became firmly embedded in their daily ritual of health care. This study shows that adolescent boys are in fact adherent with treatment, possibly at a schedule decided upon by them rather than one directed by the haemophilia centre. They are able to comprehend complex treatment decisions and make treatment plans that offer them maximum protection with minimal interference in their day-to-day activities.
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Coagulantes/administración & dosificación , Factor V/administración & dosificación , Hemofilia A/tratamiento farmacológico , Hemofilia B/tratamiento farmacológico , Adolescente , Actitud Frente a la Salud , Estudios Transversales , Esquema de Medicación , Hemofilia A/psicología , Hemofilia B/psicología , Humanos , Masculino , Cumplimiento de la Medicación/psicología , Investigación Cualitativa , Calidad de Vida , Reino UnidoRESUMEN
Array-based comparative genomic hybridization (aCGH) is a powerful tool to detect genomic imbalances in the human genome. The analysis of aCGH data sets has revealed the existence of a widespread technical artifact termed as 'waves', characterized by an undulating data profile along the chromosome. Here, we describe the development of a novel noise-reduction algorithm, waves aCGH correction algorithm (WACA), based on GC content and fragment size correction. WACA efficiently removes the wave artifact, thereby greatly improving the accuracy of aCGH data analysis. We describe the application of WACA to both real and simulated aCGH data sets, and demonstrate that our algorithm, by systematically correcting for all known sources of bias, is a significant improvement on existing aCGH noise reduction algorithms. WACA and associated files are freely available as Supplementary Data.
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Algoritmos , Artefactos , Hibridación Genómica Comparativa/métodos , Composición de Base , Aberraciones Cromosómicas , Simulación por Computador , ADN/química , Humanos , Neoplasias/genética , Análisis de Secuencia por Matrices de Oligonucleótidos/métodosRESUMEN
A scoping exercise to define the preferred competencies of professionals involved in teenage and young adult (TYA) cancer care. Data were generated during two workshops with health professionals. In groups, they ranked skills, knowledge and attitudes, previously identified through a literature search, onto a diamond template. Data were also used from an education day with TYA professionals, who generated lists of key skills, knowledge and attitudes. Individually, professionals then selected the top five areas of competence to care for young people with cancer. The workshops generated three diamonds, which exhibited agreement of 13 principle skills, knowledge and attitudes. The top two being: 'expertise in treating paediatric and adult cancers' and 'understanding cancer'. The data from the education day suggested communication, technical knowledge and teamwork as being core role features for professionals who care for young people with cancer. Integration of both datasets; one derived inductively, the other deductively provides a comprehensive outline of core skills health professionals require to be proficient in young people's cancer care. These results will form the basis of future discussion around workforce strategies and inform a Delphi survey.
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Competencia Clínica/normas , Conocimientos, Actitudes y Práctica en Salud , Personal de Salud/psicología , Neoplasias/terapia , Adolescente , Inglaterra , Femenino , Personal de Salud/normas , Humanos , Masculino , Personalidad , Relaciones Médico-Paciente , Rol Profesional , Adulto JovenRESUMEN
AIM: The aim was to describe the nature, frequency, severity and management challenges of symptoms in children with two rare life-limiting conditions [Mucopolysaccharide (MPS) and Batten disease]. METHODS: This was an embedded mixed-method study set in the UK between 2009 and 2011. Twenty-six children from 23 families took part. Seventeen children had an MPS condition [MPS III (Sanfilippo) n = 15; MPS I (Hurler) n = 1; MPS IVA (Morquio); n = 1]. Nine children had Batten disease. Prospective data relating to symptoms were collected over 8 weeks using a symptom diary, and qualitative retrospective interviews with families were conducted. Main outcome measures included frequency, severity rating and identification of most challenging symptoms to manage. RESULTS: The most common and severe symptoms in MPS III were agitation, repetitive behaviours, hyperactivity and disturbed sleep, and in Batten disease were agitation, joint stiffness, secretions, and disturbed sleep. The data highlighted the high prevalence of behavioural symptoms. Distress caused to families by symptoms was not related simply to their occurrence, but to difficulty in management, likelihood of control and extent to which they signalled disease progression and decline. CONCLUSION: In challenging contrast to the dominant biomedical framing of these rare conditions it was behavioural symptoms, rather than the physical ones, that families documented as most frequent, severe and challenging to manage. The diary developed for this study has potential use in aiding parents and clinicians to document and communicate concerns about symptoms.
Asunto(s)
Mucopolisacaridosis/diagnóstico , Mucopolisacaridosis/terapia , Lipofuscinosis Ceroideas Neuronales/diagnóstico , Lipofuscinosis Ceroideas Neuronales/terapia , Adolescente , Niño , Preescolar , Progresión de la Enfermedad , Salud de la Familia , Femenino , Humanos , Entrevistas como Asunto , Masculino , Registros Médicos , Mucopolisacaridosis/psicología , Mucopolisacaridosis I/diagnóstico , Mucopolisacaridosis I/terapia , Mucopolisacaridosis III/diagnóstico , Mucopolisacaridosis III/terapia , Lipofuscinosis Ceroideas Neuronales/psicología , Estudios Prospectivos , Estrés Psicológico , Adulto JovenRESUMEN
BACKGROUND: Much has been written on the principles of family-centred practice and on the service delivery methods and skills required of its practitioners. Far less has been written from the perspective of families whose children have a disability. The aims of this study were twofold: firstly to understand families' experiences of family-centred early childhood intervention services and secondly to explore other factors that might impact on these experiences. METHODS: One hundred and thirty families attending two established early childhood intervention services in New South Wales, Australia completed a survey incorporating the Measure of Processes of Care-56, the Family Empowerment Scale, the Family Support Scale and the Parenting Daily Hassles Scale. RESULTS: Consistent with previous research using the Measure of Processes of Care-56, 'respectful and supportive care' was the domain of care families rated to occur most and 'provision of general information' was the domain they rated to occur least. Significant positive relationships existed between families' ratings of family-centred care and feelings of empowerment. Being provided with general information was strongly correlated with family empowerment. Families' social support networks played an important role but support from professionals was most strongly correlated with families' experiences of family-centred care. Finally, families whose children's early intervention services were co-ordinated by a professional experienced significantly better care. CONCLUSIONS: The provision of general information and professional support are key components of family-centred early childhood intervention services.