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1.
J Inherit Metab Dis ; 44(4): 903-915, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33634872

RESUMEN

Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi-centre international retrospective chart review of clinical presentation, biochemistry, treatment modalities including diet, subsequent complications, and mode of death of all patients. Twenty-three patients from nine tertiary metabolic units were identified. Seven attenuated patients of Pakistani heritage, six of these homozygous c.82G>T, had later onset manifestations and long-term survival without chronic hyperammonemia. Of the 16 classical cases, 15 had cardiac involvement at presentation comprising cardiac arrhythmias (9/15), cardiac arrest (7/15), and cardiac hypertrophy (9/15). Where recorded, ammonia levels were elevated in all but one severe case (13/14 measured) and 14/16 had hypoglycaemia. Nine classical patients survived longer-term-most with feeding difficulties and cognitive delay. Hyperammonaemia appears refractory to ammonia scavenger treatment and carglumic acid, but responds well to high glucose delivery during acute metabolic crises. High-energy intake seems necessary to prevent decompensation. Anaplerosis utilising therapeutic d,l-3-hydroxybutyrate, Triheptanoin and increased protein intake, appeared to improve chronic hyperammonemia and metabolic stability where trialled in individual cases. CACTD is a rare disorder of fatty acid oxidation with a preponderance to severe cardiac dysfunction. Long-term survival is possible in classical early-onset cases with long-chain fat restriction, judicious use of glucose infusions, and medium chain triglyceride supplementation. Adjunctive therapies supporting anaplerosis may improve longer-term outcomes.


Asunto(s)
Carnitina Aciltransferasas/deficiencia , Carnitina/uso terapéutico , Dieta con Restricción de Grasas , Errores Innatos del Metabolismo Lipídico/dietoterapia , Errores Innatos del Metabolismo Lipídico/tratamiento farmacológico , Suplementos Dietéticos , Humanos , Recién Nacido , Internacionalidad , Estudios Retrospectivos , Tasa de Supervivencia
2.
Plant Dis ; 103(4): 601-618, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30789318

RESUMEN

Between 2002 and 2015, a comprehensive survey of sunflower fields across seven Midwestern U.S. states was conducted 12 times and continues to be conducted every other year. The surveyors collected data on yield, agronomic management factors, disease, insect, weed, and bird damage. All surveyors were volunteers and came from universities (extension and research staff), USDA-ARS, and seed and chemical companies. In the 12 years the survey was conducted, data from 2,267 fields were collected. The results are presented annually at the National Sunflower Association Research Forum and are used to set sunflower research priorities. While 10 diseases are surveyed annually, we focus this article on the importance, findings, implications, and impacts of the five most important: downy mildew, Phomopsis stem canker, rust, Rhizopus head rot, and Sclerotinia head rot. This survey is unique among field crops in both scope and scale, and this manuscript discusses salient and clandestine benefits of intense and long-term disease surveys.


Asunto(s)
Ascomicetos , Helianthus , Enfermedades de las Plantas , Investigación , Mapeo Cromosómico , Enfermedades de las Plantas/microbiología , Enfermedades de las Plantas/estadística & datos numéricos , Investigación/normas , Investigación/tendencias , Encuestas y Cuestionarios
3.
Cancer Med ; 13(3): e6937, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38240343

RESUMEN

BACKGROUND: In oestrogen-receptor positive breast cancer, daily oral adjuvant endocrine therapy (ET) for at least 5 years significantly reduces risks of recurrence and breast cancer-specific mortality. However, many women are poorly adherent to ET. Development of effective adherence support requires comprehensive understanding of influences on adherence. We undertook an umbrella review to identify determinants of ET adherence. METHODS: We searched PubMed, Embase, CINAHL, PsycINFO, Cochrane and PROSPERO (inception to 08/2022) to identify systematic reviews on factors influencing ET adherence. Abstracted determinants were mapped to the World Health Organization's dimensions of adherence. Reviews were quality appraised and overlap assessed. RESULTS: Of 5732 citations screened, 17 reviews were eligible (9 quantitative primary studies; 4 qualitative primary studies; 4 qualitative or quantitative studies) including 215 primary papers. All five WHO dimensions influenced ET non-adherence: The most consistently identified non-adherence determinants were patient-related factors (e.g. lower perceived ET necessity, more treatment concerns, perceptions of ET 'cons' vs. 'pros'). Healthcare system/healthcare professional-related factors (e.g. perceived lower quality health professional interaction/relationship) were also important and, to a somewhat lesser extent, socio-economic factors (e.g. lower levels of social/economic/material support). Evidence was more mixed for medication-related and condition-related factors, but several may be relevant (e.g. experiencing side-effects, cost). Potentially modifiable factors are more influential than non-modifiable/fixed factors (e.g. patient characteristics). CONCLUSIONS: The evidence-base on ET adherence determinants is extensive. Future empirical studies should focus on less well-researched areas and settings. The determinants themselves are numerous and complex in indicating that adherence support should be multifaceted, addressing multiple determinants.


Asunto(s)
Neoplasias de la Mama , Femenino , Humanos , Mama , Neoplasias de la Mama/tratamiento farmacológico , Terapia Combinada , Factores Económicos
4.
Palliat Med ; 27(6): 516-23, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23462702

RESUMEN

BACKGROUND: Non-invasive ventilation improves quality and quantity of life in patients with motor neurone disease who have respiratory failure. Use of non-invasive ventilation may, however, result in complex clinical issues for end-of-life care, with concerns as to whether and how it should be withdrawn. AIM: This study aimed to describe carer and health professional experiences of end-of-life care of motor neurone disease patients using non-invasive ventilation. DESIGN/PARTICIPANTS: This article reports data from qualitative interviews with family carers and professionals following the death of patients with motor neurone disease who were using non-invasive ventilation in the final phase of the disease. RESULTS: Ten of the 20 patients initiated on non-invasive ventilation were using it in the end-of-life phase of their disease, with 5 using it for 24 h/day. Interviews were carried out with nine family carers and 15 professionals. Nine recurring themes were identified in the data. Both carers and health-care professionals perceived that the terminal phase of motor neurone disease was unexpectedly rapid and that this often led to unplanned interactions with the emergency services. Carers of patients who used non-invasive ventilation perceived non-invasive ventilation as aiding patient comfort and anxiety at the end of life. CONCLUSIONS: The use of non-invasive ventilation was described as beneficial and was not perceived by carers or most professionals to have adversely impacted patient's end-of-life experience. This study highlights variation in patient wishes regarding usage towards the end of life, uncertainty regarding appropriate management among professionals and the importance of disseminating end-of-life wishes.


Asunto(s)
Actitud del Personal de Salud , Cuidadores/psicología , Enfermedad de la Neurona Motora/complicaciones , Respiración Artificial/métodos , Insuficiencia Respiratoria/terapia , Cuidado Terminal/métodos , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Satisfacción del Paciente , Investigación Cualitativa , Calidad de Vida , Insuficiencia Respiratoria/etiología
5.
J Bacteriol ; 193(13): 3399-400, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21551312

RESUMEN

Nocardioides sp. strain JS614 grows on ethene and vinyl chloride (VC) as sole carbon and energy sources and is of interest for bioremediation and biocatalysis. Sequencing of the complete genome of JS614 provides insight into the genetic basis of alkene oxidation, supports ongoing research into the physiology and biochemistry of growth on ethene and VC, and provides biomarkers to facilitate detection of VC/ethene oxidizers in the environment. This is the first genome sequence from the genus Nocardioides and the first genome of a VC/ethene-oxidizing bacterium.


Asunto(s)
Actinomycetales/genética , ADN Bacteriano/química , ADN Bacteriano/genética , Genoma Bacteriano , Actinomycetales/metabolismo , Etilenos/metabolismo , Datos de Secuencia Molecular , Oxidación-Reducción , Análisis de Secuencia de ADN , Cloruro de Vinilo/metabolismo
6.
JIMD Rep ; 60(1): 88-95, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34258144

RESUMEN

BACKGROUND: Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT. AIM: To review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019. METHODS: Retrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post-LT. RESULTS: Twenty-four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri-operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients. CONCLUSIONS: Referral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.

7.
Orphanet J Rare Dis ; 15(1): 53, 2020 02 18.
Artículo en Inglés | MEDLINE | ID: mdl-32070364

RESUMEN

BACKGROUND: Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrate. Failure to generate ketones in such circumstances leads to compromised energy delivery, critical end-organ dysfunction and potentially death. There are a range of inborn errors of metabolism (IEM) affecting ketone body production that can present in this way, including disorders of carnitine transport into the mitochondrion, mitochondrial fatty acid oxidation deficiencies (MFAOD) and ketone body synthesis. In situations of acute energy deficit, management of IEM typically entails circumventing the enzyme deficiency with replenishment of energy requirements. Due to profound multi-organ failure it is often difficult to provide optimal enteral therapy in such situations and rescue with sodium DL-3-hydroxybutyrate (S DL-3-OHB) has been attempted in these conditions as documented in this paper. RESULTS: We present 3 cases of metabolic decompensation, one with carnitine-acyl-carnitine translocase deficiency (CACTD) another with 3-hydroxyl, 3-methyl, glutaryl CoA lyase deficiency (HMGCLD) and a third with carnitine palmitoyl transferase II deficiency (CPT2D). All of these disorders are frequently associated with death in circumstance where catastrophic acute metabolic deterioration occurs. Intensive therapy with adjunctive S DL-3OHB led to rapid and sustained recovery in all. Alternative therapies are scarce in these situations. CONCLUSION: S DL-3-OHB has been utilised in multiple acyl co A dehydrogenase deficiency (MADD) in cases with acute neurological and cardiac compromise with long-term data awaiting publication. The use of S DL-3-OHB is novel in non-MADD fat oxidation disorders and contribute to the argument for more widespread use.


Asunto(s)
Ácidos Grasos , Sodio , Ácido 3-Hidroxibutírico , Carnitina , Humanos , Cuerpos Cetónicos , Cetonas
9.
Disabil Rehabil ; 30(1): 1-12, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-17852222

RESUMEN

PURPOSE: The paper examines the general literature and available research evidence on medical, health and social aspects of life for adults with skeletal dysplasia conditions causing profound short stature. METHOD: The paper reports on a literature review using available medical, psychological and social sources. RESULTS: There is a dearth of methodologically sound research evidence in this field, and this is particularly marked in areas such as transition to adulthood, ageing and medical, surgical and health experiences. CONCLUSIONS: There are serious gaps in the available literature and research evidence is sparse and often based on biased samples of limited numbers. This means that it is difficult to get information beyond the anecdotal in assessing the health and social needs of this group of people, and in particular to define needs that are currently unmet. It also limits the scope of advice and information available to health professionals and others in the field who offer support to adults with the conditions and parents of newly-diagnosed babies and young children.


Asunto(s)
Enanismo/psicología , Acondroplasia/psicología , Acondroplasia/rehabilitación , Adolescente , Adulto , Enanismo/rehabilitación , Empleo , Humanos , Relaciones Interpersonales , Matrimonio , Calidad de Vida
10.
Wellcome Open Res ; 3: 161, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30828646

RESUMEN

Birth cohort studies generate huge amounts of data, and as a consequence are a source of many peer reviewed publications. We have taken the list of publications from the Avon Longitudinal Study of Parents and Children UK birth cohort, filtered, de-duplicated and cleaned it to generate a bibliographic research data set. This dataset could be used for accurate reporting and monitoring of the impact of the study as well as bibliometric research.

11.
Qual Health Res ; 17(9): 1292-303, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17968045

RESUMEN

Unlike research on "associative" hard-to-reach populations, such as those at risk of AIDS, which has been subject to extensive methodological scrutiny, few studies have explored strategies for researching nonassociative hard-to-reach populations: those whose members do not normally have contact with other members. This article contributes toward rectifying this imbalance. The literature review includes issues of representativeness, use of membership lists or other centralized sources of information, innovative ways of gaining access to nonassociative population members, and an overview of multiple approaches. The authors then explore strategies adopted by one of them in recent studies of three such populations in the United Kingdom of people with spina bifida and hydrocephalus, advanced Parkinson's disease, and skeletal dysplasia resulting in very short stature. They consider previously unreported problems with using membership lists and discuss strategies for finding population members not in contact with others in the population or membership organizations or professionals.


Asunto(s)
Relaciones Comunidad-Institución , Disparidades en Atención de Salud , Servicios de Información/estadística & datos numéricos , Evaluación de Necesidades/organización & administración , Enfermedades del Sistema Nervioso/epidemiología , Aislamiento Social , Poblaciones Vulnerables/estadística & datos numéricos , Geografía , Humanos , Muestreo , Encuestas y Cuestionarios , Agencias Voluntarias de Salud , Poblaciones Vulnerables/psicología
12.
Int J Palliat Nurs ; 13(3): 109-15, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17505403

RESUMEN

The aim of the study was to describe the knowledge, attitudes and practices of nursing personnel working in acute care settings regarding advance directives (ADs). The study was descriptive using a 40-item, newly developed tool (Update on Advance Directives questionnaire) distributed to 108 nursing personnel (mostly registered nurses) who were willing to complete the questionnaire. The findings were that nursing personnel reflected a lack of knowledge concerning federal and state laws and general information about ADs. Nursing personnel had very low rates of AD completion but most felt ADs were valuable for the patient. We concluded that nurses need more resources, e.g. knowledge, administrative and physician support, and communication tools to facilitate advance planning for end-of-life care for patients. The role of the health care provider, be it the nurse, physician or other, needs to be clarified regarding the most practical setting for AD formulation.


Asunto(s)
Directivas Anticipadas , Actitud del Personal de Salud , Conocimientos, Actitudes y Práctica en Salud , Personal de Enfermería en Hospital/educación , Personal de Enfermería en Hospital/psicología , Directivas Anticipadas/legislación & jurisprudencia , Directivas Anticipadas/psicología , Competencia Clínica , Comunicación , Estudios Transversales , Graduación en Auxiliar de Enfermería , Bachillerato en Enfermería , Programas de Graduación en Enfermería , Educación de Postgrado en Enfermería , Escolaridad , Humanos , Evaluación de Necesidades , Rol de la Enfermera/psicología , Relaciones Enfermero-Paciente , Investigación Metodológica en Enfermería , Personal de Enfermería en Hospital/organización & administración , Enfermería Práctica/educación , Enfermería Práctica/organización & administración , Educación del Paciente como Asunto , Autoeficacia , Apoyo Social , Encuestas y Cuestionarios , Cuidado Terminal/organización & administración , Cuidado Terminal/psicología , Texas
13.
Int J Palliat Nurs ; 13(1): 39-43, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17353849

RESUMEN

AIM: A cross-sectional, descriptive study to describe characteristics and other factors that influenced the decision by hospitalized patients in the East Texas area to formulate an advanced directive (AD). FINDINGS: Spouses, family members and sense of spirituality were the strongest influential factors for completion of an AD. Most learned about ADs from family, friends, personal attorneys, and others, while less than a quarter of the sample learned about ADs from health care providers. Not wanting to be a burden on their family was the major reason cited for completing an AD. CONCLUSIONS: Health care provider roles are vague in terms of responsibility for AD discussion and education. Further exploration of the attitudes, knowledge and practices concerning ADs of nurses and primary health care providers is recommended to provide focal points for future research in order to facilitate peace of mind for patients and families at end-of-life.


Asunto(s)
Directivas Anticipadas , Toma de Decisiones , Hospitalización , Pacientes Internos , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad
14.
Healthcare (Basel) ; 5(1)2017 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-28335519

RESUMEN

Theories of the developmental origins of health and disease imply that optimising the growth and development of babies is an essential route to improving the health of populations. A key factor in the growth of babies is the nutritional status of their mothers. Since women from more disadvantaged backgrounds have poorer quality diets and the worst pregnancy outcomes, they need to be a particular focus. The behavioural sciences have made a substantial contribution to the development of interventions to support dietary changes in disadvantaged women. Translation of such interventions into routine practice is an ideal that is rarely achieved, however. This paper illustrates how re-orientating health and social care services towards an empowerment approach to behaviour change might underpin a new developmental focus to improving long-term health, using learning from a community-based intervention to improve the diets and lifestyles of disadvantaged women. The Southampton Initiative for Health aimed to improve the diets and lifestyles of women of child-bearing age through training health and social care practitioners in skills to support behaviour change. Analysis illustrates the necessary steps in mounting such an intervention: building trust; matching agendas and changing culture. The Southampton Initiative for Health demonstrates that developing sustainable; workable interventions and effective community partnerships; requires commitment beginning long before intervention delivery but is key to the translation of developmental origins research into improvements in human health.

15.
Eur J Oncol Nurs ; 29: 31-38, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28720263

RESUMEN

PURPOSE: To establish a comprehensive set of recommendations for the service structure and skill set of nurses and allied healthcare professionals in prostate cancer care. METHODS: Using components of formal consensus methodology, a 30-member multidisciplinary panel produced 53 items for discussion relating to the provision of care for prostate cancer patients by specialist nurses and allied healthcare professionals. Items were developed by two rounds of email correspondence in which, first, items were generated and, second, items refined to form the basis of a consensus meeting which constituted the third round of review. The fourth and final round was an email review of the consensus output. RESULTS: The panel agreed on 33 items that were appropriate for recommendations to be made. These items were grouped under categories of "Environment" and "Patient Pathway" and included comments on training, leadership, communication and quality assessment as well as specific items related to prostate diagnosis clinics, radical treatment clinics and follow-up survivor groups. CONCLUSIONS: Specialist nurses and allied healthcare professionals play a vital role alongside urologists and oncologists to provide care to men with prostate cancer and their families. We present a set of standards and consensus recommendations for the roles and skill-set required for these practitioners to provide gold-standard prostate cancer care. These recommendations could form the basis for development of comprehensive integrated prostate cancer pathways in prostate cancer centres as well as providing guidance for any units treating men with prostate cancer.


Asunto(s)
Competencia Clínica/normas , Personal de Salud/normas , Salud Holística/normas , Enfermería Oncológica/normas , Guías de Práctica Clínica como Asunto , Neoplasias de la Próstata/terapia , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Masculino , Persona de Mediana Edad
16.
PLoS One ; 11(2): e0146824, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26849438

RESUMEN

OBJECTIVES: We developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS: An initial guidelines draft was created which included statements based upon literature review and 11 open-ended questions where literature was lacking. The international expert panel reviewed the draft online using a 2-stage Delphi process to reach consensus agreement. Items describe the clinical assessment of bone health, bone mineral density assessment and technique, and pharmacological and non-pharmacological interventions. RESULTS: Agreement was reached on 39 statements which were formulated from 41 statements and 11 questions. When assessing bone health in Rett syndrome a comprehensive assessment of fracture history, mutation type, prescribed medication, pubertal development, mobility level, dietary intake and biochemical bone markers is recommended. A baseline densitometry assessment should be performed with accommodations made for size, with the frequency of surveillance determined according to individual risk. Lateral spine x-rays are also suggested. Increasing physical activity and initiating calcium and vitamin D supplementation when low are the first approaches to optimizing bone health in Rett syndrome. If individuals with Rett syndrome meet the ISCD criterion for osteoporosis in children, the use of bisphosphonates is recommended. CONCLUSION: A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis. These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.


Asunto(s)
Osteoporosis/diagnóstico , Osteoporosis/terapia , Guías de Práctica Clínica como Asunto , Síndrome de Rett/complicaciones , Absorciometría de Fotón , Densidad Ósea , Conservadores de la Densidad Ósea/uso terapéutico , Consenso , Difosfonatos/uso terapéutico , Manejo de la Enfermedad , Testimonio de Experto , Humanos , Osteoporosis/etiología
17.
Southeast Asian J Trop Med Public Health ; 34 Suppl 3: 208-11, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-15906737

RESUMEN

Many inborn errors of metabolism can be successfully managed by restriction of natural protein intake, with or without special supplements. In some cases, there is a need for clear advice on management during metabolic crisis brought about by illness. Even when medical facilities and ongoing support are on hand, and special products are available and affordable, management of such conditions is challenging to families. Tailoring diet instruction to the needs and capabilities of the family is most likely to achieve success. Many Australian families cope better with simple guidelines aimed at reducing protein intake within the needs for growth and development and this style of management is also more likely to be successful in countries in which support is limited. Simple guidelines can take the form of increasing intake of certain types of foods and limiting others. Assessment of vitamin and mineral intake is however essential. Breastfeeding will provide less protein than standard infant formula, as well as immune protection, and needs to be encouraged and supported. Restricting meat and other high protein foods with increased intake of cereal and vegetable protein will still substantially decrease protein intake. Increasing intake of low protein vegetable sources or special low protein foods will also by default decrease protein intake. Families need specific guidelines for the care of their child when metabolic decompensation is a risk, with the aim of maintaining adequate energy intake, in forms that the child can eat or drink. A specialist pediatric dietitian can provide the expertise in formulating management plans appropriate for the family and facilities, with ongoing local management. The support of other families dealing with similar conditions can also be invaluable.


Asunto(s)
Dieta con Restricción de Proteínas/métodos , Alimentos Infantiles , Errores Innatos del Metabolismo/dietoterapia , Australia , Dietética , Humanos , Lactante , Fenómenos Fisiológicos Nutricionales del Lactante , Recién Nacido , Errores Innatos del Metabolismo/diagnóstico , Tamizaje Neonatal
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