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1.
Pediatr Blood Cancer ; 69(1): e29408, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34773426

RESUMO

BACKGROUND: The long-term impact of childhood cancer treatment on dietary intake is likely to be complex, and the length of time dietary behaviors are affected after childhood cancer treatment is unknown. AIM: The aim of this study was to determine the diet quality in childhood cancer survivors recently off treatment and explore possible contributing factors that may affect diet quality in this population. METHODS: Participants were 65 parents and/or carers of childhood cancer survivors (CCS) (aged 2-18 years), recently off treatment, and 81 age-matched controls. Participants completed two self-administered dietary intake and eating behavior questionnaires. Study data were explored to determine between group differences, bivariate analysis using Spearman correlations was used to determine the relationship between diet quality and identified variables, and hierarchical cluster analysis was completed to characterize specific variables into clusters. RESULTS: One hundred and forty-six parents of children aged 2-18 years completed the study (65 parents of CCS and 81 control). CCS had a significantly poorer diet quality score than the age-matched controls (32.25 vs 34.83, P = 0.028). CCS had significantly higher parent-reported rates of "picky eating" behavior than the control group (2.31 vs 1.91; P = 0.044). Factors such as picky eating, emotional overeating, and body mass index z-score might drive diet quality in survivors. CONCLUSIONS: CCS were found to have poorer diet quality and more likely to have parents report picky eating behaviors. The outcomes highlighted the need for a tailored intervention aimed at improving healthy eating behaviors in CCS after treatment for cancer.

2.
J Child Health Care ; : 13674935211052148, 2021 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-34719287

RESUMO

Clinician and healthcare managers' (HCMs) views on weight management service delivery are imperative for informing the nature of future services to treat children with obesity. This qualitative study used semi-structured focus groups and one-on-one semi-structured interviews. Participants were 27 clinicians (medical, nursing, or allied health) and nine HCMs (senior executives in the hospital) who worked in six secondary or tertiary pediatric weight management clinics across five public hospitals in New South Wales, Australia. Clinicians reported that using a combination of group and individual sessions improved engagement with families and reduced attrition rates. Clinicians and HCMs recommended integrating clinics into community centers and providing specific programs for sub-groups, such as children from culturally and linguistically diverse communities or children with developmental delay. Many clinicians and HCMs stressed the importance of pediatric weight clinics using a holistic approach to treatment. To improve the likelihood of future funding for pediatric weight management clinics and to optimize models of care, centers must embed research into their practice. Addressing common barriers to current pediatric weight management services and designing future models of care based on key stakeholders' preferences is critical to achieving optimal care provision for this high-risk population.

3.
Artigo em Inglês | MEDLINE | ID: mdl-34789488

RESUMO

BACKGROUND: Maternal obesity may increase offspring risk of cardiovascular disease. We assessed the impact of maternal obesity on cardiac structure and function in newborns as a marker of fetal cardiac growth. METHODS: Neonates born to mothers of healthy weight (body mass index (BMI) 20-25 kg/m2, n=56) and to mothers who were obese (BMI ≥30 kg/m2, n=31) underwent 25-minute continuous ECG recording and non-sedated, free-breathing cardiac MRI within 72 hours of birth. RESULTS: Mean (SD) heart rate during sleep was higher in infants born to mothers who were versus were not obese (123 (12.6) vs 114 (9.8) beats/min, p=0.002). Heart rate variability during sleep was lower in infants born to mothers who were versus were not obese (SD of normal-to-normal R-R interval 34.6 (16.8) vs 43.9 (16.5) ms, p=0.05). Similar heart rate changes were seen during wakefulness. Left ventricular end-diastolic volume (2.35 (0.14) vs 2.54 (0.29) mL/kg, p=0.03) and stroke volume (1.50 (0.09) vs 1.60 (0.14), p=0.04) were decreased in infants born to mothers who were versus were not obese. There were no differences in left ventricular end-systolic volume, ejection fraction, output or myocardial mass between the groups. CONCLUSION: Maternal obesity was associated with increased heart rate, decreased heart rate variability and decreased left ventricular volumes in newborns. If persistent, these changes may provide a causal mechanism for the increased cardiovascular risk in adult offspring of mothers with obesity. In turn, modifying antenatal and perinatal maternal health may have the potential to optimise long-term cardiovascular health in offspring.

4.
Genetics ; 219(3)2021 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-34740248

RESUMO

The Patched-related superfamily of transmembrane proteins can transport lipids or other hydrophobic molecules across cell membranes. While the Hedgehog receptor Patched has been intensively studied, much less is known about the biological roles of other Patched-related family members. Caenorhabditis elegans has a large number of Patched-related proteins, despite lacking a canonical Hedgehog pathway. Here, we show that PTR-4 promotes the assembly of the precuticle apical extracellular matrix, a transient and molecularly distinct matrix that precedes and patterns the later collagenous cuticle or exoskeleton. ptr-4 mutants share many phenotypes with precuticle mutants, including defects in eggshell dissolution, tube shaping, alae (cuticle ridge) structure, molting, and cuticle barrier function. PTR-4 localizes to the apical side of a subset of outward-facing epithelia, in a cyclical manner that peaks when precuticle matrix is present. Finally, PTR-4 is required to limit the accumulation of the lipocalin LPR-3 and to properly localize the Zona Pellucida domain protein LET-653 within the precuticle. We propose that PTR-4 transports lipids or other hydrophobic components that help to organize the precuticle and that the cuticle and molting defects seen in ptr-4 mutants result at least in part from earlier disorganization of the precuticle.

5.
J Pediatr ; 2021 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-34687695

RESUMO

At midterm follow-up visits performed at a median of 7 months (IQR 6.0-8.4 months), 16 patients with multisystem inflammatory syndrome in children had resolution of left ventricular dysfunction and most had resolution of coronary aneurysms. On cardiovascular magnetic resonance imaging, no patients had late gadolinium enhancement.

6.
J Perinatol ; 41(10): 2537-2543, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34385586

RESUMO

OBJECTIVES: To describe and evaluate trends in the etiology and mortality risk in neonates admitted for neonatal intensive care with hydrops fetalis. STUDY DESIGN: A retrospective review of de-identified patient data in the Pediatrix Clinical Data Warehouse from 1997 to 2018. RESULTS: We identified 2144 infants diagnosed with hydrops fetalis. The most common diagnoses were congenital heart disease (n = 325, 15.2%), genetic diagnoses (n = 269, 12.5%) and cardiac arrhythmia (n = 176, 8.2%). Of 2144 neonates, 988 (46%) survived to hospital discharge and 775 (36%) died prior to discharge. Mortality rate was highly variable across diagnoses, ranging from 90% in infants with congenital diaphragmatic hernia to 0% in infants with atrial flutter. Over the study period, more infants were diagnosed with trisomies and fewer with twin-to-twin transfusion. Mortality decreased by 5% from 1997-2007 to 2008-2018. CONCLUSIONS: The risk of death among neonates with hydrops fetalis is highly dependent on the underlying cause, with increasing risk of mortality at lower gestational ages.


Assuntos
Cardiopatias Congênitas , Hérnias Diafragmáticas Congênitas , Idade Gestacional , Cardiopatias Congênitas/diagnóstico , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/epidemiologia , Lactente , Recém-Nascido , Estudos Retrospectivos
7.
JACC Case Rep ; 3(2): 230-235, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34317508

RESUMO

Eisenmenger syndrome refers to any untreated congenital cardiac defect with an intracardiac communication that leads to pulmonary arterial hypertension, reversal of intracardiac shunting, and cyanosis. We describe a 40-year-old cyanotic patient with congenital heart disease with presumed Eisenmenger syndrome who was considered inoperable. Testing revealed a partial atrioventricular septal defect with no evidence of pulmonary arterial hypertension, and the patient underwent successful cardiac repair. (Level of Difficulty: Intermediate.).

8.
Epilepsia ; 62(9): 2218-2227, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34265088

RESUMO

OBJECTIVE: We conducted a post hoc analysis of two randomized controlled trials, GWPCARE1 (NCT02091375) and GWPCARE2 (NCT02224703), to estimate the time to onset of cannabidiol (CBD) treatment effects (seizure reduction and adverse events [AEs]) in patients with Dravet syndrome (DS). METHODS: Patients received either plant-derived highly purified CBD (Epidiolex in the United States; 100 mg/ml oral solution) 10 mg/kg/day (CBD10; GWPCARE2) or 20 mg/kg/day (CBD20; GWPCARE1&2), or matching placebo for 14 weeks. Treatment started at 2.5 mg/kg/day, reached 10 mg/kg/day on Day 7, and went up to 20 mg/kg/day on Day 11 during the 14-day titration period. Percentage change from baseline in convulsive seizure frequency was calculated by cumulative day (i.e., including all previous days). Time to onset and resolution of AEs were also evaluated. RESULTS: Overall, 124 patients received placebo and 194 received CBD (CBD10, n = 64; CBD20, n = 130). Mean age was 9.5 years (range = 2.2-18.9). Patients had discontinued a median of four antiepileptic drugs (range = 0-26) and were currently taking a median of three (range = 1-5). Differences in convulsive seizure reduction between placebo and CBD emerged during titration and became nominally significant by Day 12 for CBD20 (p = .02) and Day 13 for CBD10 (p = .03). Additionally, differences in the 50% responder rate between placebo and CBD became apparent during titration. Onset of the first reported AE occurred during the titration period in 48.4% of placebo patients and 54.1% of CBD patients. The three most common AEs of somnolence, decreased appetite, and diarrhea resolved within 4 weeks of onset in the majority of CBD-treated patients (56.3%-72.9%). SIGNIFICANCE: The therapeutic effect of CBD in DS may start within 2 weeks of treatment in some patients. Although AEs lasted longer for CBD than placebo, most resolved within the 14-week study period.

9.
Am J Med Genet A ; 185(9): 2766-2775, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34160123

RESUMO

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies caused by homozygous pathogenic missense variants in CYP26B1. In contrast, a 22-year-old female was reported with a homozygous missense pathogenic variant in CYP26B1 with complex multisuture craniosynostosis and intellectual disability, suggesting that in some cases, biallelic pathogenic variants of CYP26B1 may be compatible with life. Here we describe four additional living individuals from two families with compound heterozygous pathogenic missense variants in CYP26B1. Structural assessment of these additional missense variants places them further from the catalytic site and supports a model consistent with milder nonlethal disease. In addition to previously reported findings of multisuture craniosynostosis, conductive hearing loss, joint contractures, long slender fingers, camptodactly, broad fingertips, and developmental delay/intellectual disability, skeletal imaging in our cases also revealed gracile long bones, gracile ribs, radioulnar synostosis, and carpal and/or tarsal fusions. These individuals broaden the phenotypic range of biallelic pathogenic variants in CYPB26B1 and most significantly clarify that mortality can range from perinatal lethality to survival into adulthood.

10.
J Pediatr Oncol Nurs ; 38(5): 313-321, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33960867

RESUMO

Background: With improved long-term health outcomes and survivorship, the long-term nutritional management of childhood cancer survivors, from diagnosis to long-term follow-up, has become a priority. The aim of this study was to examine the diet quality of children receiving treatment for cancer. Methods: Participants were parents of children with cancer who were receiving active treatment and not receiving supplementary nutrition. A 24-h dietary recall assessed food and nutrient intake. Serves of food group intakes and classification of core and discretionary items were made according to the Australian Dietary Guidelines and compared with age and sex recommendations. Results: Sixty-four parents participated (75% female). Most children were not consuming adequate intake of vegetables (94% of patients), fruit (77%), and milk/alternatives (75%). Of the vegetables that were consumed, half were classified as discretionary foods (e.g., chips/fries). Nearly half (49%) of children exceeded recommendations for total sugar intake and 65% of patients had an excessive sodium intake. Discussion: Children receiving cancer treatment are consuming diets of reasonable quantity, but poor quality. Information provided during treatment should focus on educating parents on a healthy diet for their child, the importance of establishing healthy eating habits for life, and strategies to overcome barriers to intake during treatment.


Assuntos
Dieta , Neoplasias , Austrália , Criança , Ingestão de Energia , Comportamento Alimentar , Feminino , Humanos , Masculino , Política Nutricional
12.
Glob Public Health ; 16(8-9): 1381-1395, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33905301

RESUMO

Analysing the pandemic through a feminist political economy lens makes clear how gender, race, and class structures are crucial to the functioning of capitalism and to understanding the impacts of the pandemic. The way capital organises production and reproduction combines with structures of oppression, generating vulnerability among the racialised and gendered populations worst impacted by Covid-19. Using global data, this commentary shows that during the pandemic, women experienced relatively greater employment losses, were more likely to work in essential jobs, and experienced a greater reduction in income. Women were also doing more reproductive labour than men and were more likely to drop out of the labour force because of it. Analyses of capitalism in feminist political economy illustrate how capital accumulation depends on women's oppression in multiple, fundamental ways having to do with their paid and unpaid work. Women's work, and by extension their health, is the foundation upon which both production and social reproduction rely. Recognising the pandemic as endogenous to capitalism heightens the contradiction between a world shaped by the profit motive and the domestic and global requirements of public health.


Assuntos
COVID-19 , Feminismo , Pandemias , Política , COVID-19/epidemiologia , Capitalismo , Feminino , Saúde Global , Humanos , Fatores Socioeconômicos , Trabalho
14.
J Paediatr Child Health ; 57(8): 1259-1266, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33724622

RESUMO

AIM: To identify multi-disciplinary paediatric weight management services currently available in Australia and determine gaps in service provision for children and adolescents with obesity. METHODS: Surveys were distributed to 17 identified Australian multi-disciplinary paediatric weight management services. A representative from each service was asked to complete an online survey regarding service and patient characteristics, assessment and management practices, and professional development approaches. RESULTS: Representatives from 16 multi-disciplinary paediatric weight management services completed the survey. Fourteen services were based in major metropolitan cities and two in regional areas. Fourteen services provided care to pre-school aged children (0-4 years old), 15 to primary school aged children (5-12 years old) and 13 to high school aged children (13-18 years old). The number of patients seen per year per service ranged from 20 to 250 and duration of waiting lists ranged from 2 months to more than 12 months. CONCLUSIONS: The current availability and accessibility of multi-disciplinary paediatric weight management services is inadequate to service Australian children and adolescents with obesity, particularly those with severe obesity and those in rural and remote communities. To better address the issue of paediatric obesity, establishment of additional multi-disciplinary services, training for health-care professionals and monitoring of the provision of evidence-based care is urgently needed.


Assuntos
Obesidade Pediátrica , População Rural , Adolescente , Austrália , Criança , Pré-Escolar , Acesso aos Serviços de Saúde , Humanos , Lactente , Recém-Nascido , Obesidade Pediátrica/terapia , Inquéritos e Questionários
15.
J Womens Health (Larchmt) ; 30(5): 694-704, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33544023

RESUMO

Background: To estimate the incidence, prevalence, frequency, and duration of incarceration and to identify risk factors for incarceration among women at risk for human immunodeficiency virus (HIV) in the United States. Methods: During semiannual study visits in a multicenter cohort study, 970 HIV sero-negative participants at risk for HIV were asked about their own incarceration (10/2007-09/2017) and incarceration of sexual partners (10/2013-09/2017). We used descriptive statistics and multivariable log-binomial regression to identify baseline predictors of incident incarceration. Results: Median follow-up time across the 970 participants was 5.5 years (IQR 3.5-9.5). Nearly half (n = 453, 46.7%) of participants were incarcerated during or before the study, and the incarceration rate was 5.5 per 100 person-years. In multivariable models, incident incarceration was associated with prior incarceration (RR 5.20, 95% CI: 3.23-8.41) and noninjection drug use (RR 1.57, 95% CI: 1.10-2.25). Conclusions: Incarceration is common for women at risk for HIV. Prevention interventions that address the complex interplay of drug use, sex exchange, and housing instability for women who have experienced incarceration have the potential to reach an important group of U.S. women at risk of HIV infection.


Assuntos
Infecções por HIV , Prisioneiros , Estudos de Coortes , Feminino , HIV , Infecções por HIV/epidemiologia , Humanos , Incidência , Prevalência , Estados Unidos/epidemiologia
16.
J Pain Symptom Manage ; 61(4): 743-754.e1, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-32911038

RESUMO

CONTEXT: As part of its Life-Sustaining Treatment (LST) Decisions Initiative, the Veterans Health Administration (VA) in January 2017 began requiring electronic documentation of goals of care and preferences for Veterans with serious illness and at high risk for life-threatening events. OBJECTIVES: To evaluate whether goals of "to be comfortable" were associated with greater palliative care (PC) use and lesser acute care use. METHODS: We identified Veterans with VA inpatient or nursing home stays overlapping July 2018-January 2019, with LST templates documented by January 31, 2019, and who died by April 30, 2019 (N = 18,163). From template documentation, we identified a "to be comfortable" goal. Using VA and Medicare data, we determined PC use (consultations and hospice) and hospital, intensive care unit, and emergency department use 7 and 30 days before death. Multivariate logistic regression examined the associations of interest. RESULTS: Sixty-four percent of the 18,163 Veterans had comfort-care goals; 80% with comfort care goals received hospice and 57% PC consultations (versus 57% and 46%, respectively, for decedents without comfort-care goals). In adjusted analyses, comfort care documented on the LST template prior to death was associated with significantly lower odds of hospital, intensive care unit, and emergency department use near the end of life. In the last 30 days of life, Veterans with a comfort care goal had 44% lower odds (adjusted odds ratio 0.57; 95% CI: 0.51, 0.63) of being hospitalized. CONCLUSION: Findings support the VA's commitment to honoring of Veterans' preferences post introduction of its Life Sustaining Treatment Decisions Initiative.


Assuntos
Assistência Terminal , Veteranos , Idoso , Morte , Objetivos , Humanos , Medicare , Cuidados Paliativos , Planejamento de Assistência ao Paciente , Conforto do Paciente , Estados Unidos
17.
J Palliat Med ; 24(6): 873-878, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33170071

RESUMO

Background: Emergency department (ED) visits are common for older patients with chronic, life-limiting illnesses and may offer a valuable opportunity for clinicians to initiate proactive goals of care conversations (GoCC) to ensure end-of-life care that aligns with the patients' values, goals, and preferences. Objectives: The purpose of this study is to assess whether GoCC are occurring with patients in Department of Veteran Affairs (VA) EDs, to characterize these patients' goals of care and life-sustaining treatment (LST) decisions, and to examine the extent to which palliative or hospice consultations occur following the ED visit. Design: We conducted a cross-sectional retrospective study using health record data. Settings/Subjects: A total of 10,780 patients receiving care in VA, whose first GoCC occurred during an ED visit. Results: Of the patients in the study, approximately half were at least 70 years of age, three-quarters were white, and half had multiple serious disease comorbidities. The percentage of patients who desired cardiopulmonary resuscitation was lower among the highest risk (i.e., of hospitalization and death) patients (64% vs. 51%). The percentage of patients wanting other LSTs (e.g., mechanical ventilation) was higher among the lowest risk patients; and the percentage of patients requesting limits to LSTs was highest among higher risk patients. Eighteen percent of patients had a palliative or hospice care consult within three months of their ED visit. Conclusions: In this study, we verified that GoCC are being initiated in the ED with Veterans at differing stages in their illness trajectory and that higher proportions of higher risk patients preferred to limit LSTs.


Assuntos
Assistência Terminal , Veteranos , Estudos Transversais , Serviço Hospitalar de Emergência , Humanos , Planejamento de Assistência ao Paciente , Estudos Retrospectivos
18.
Dent Clin North Am ; 65(1): 43-56, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33213714

RESUMO

As implant placement increases within all dental specialties, it is expected that the number of suboptimal results will increase, as well. The goal of this article is to provide clinicians with an outline of the management of periimplantitis cases, ranging from simple to complex. It will review signs and symptoms, diagnosis, case selection, and armamentarium. In addition, this chapter will discuss basic techniques which can be utilized at various stages to salvage the compromised implant.


Assuntos
Implantes Dentários , Peri-Implantite , Implantação Dentária Endo-Óssea/efeitos adversos , Implantes Dentários/efeitos adversos , Humanos , Peri-Implantite/diagnóstico , Peri-Implantite/terapia
19.
PLoS Genet ; 16(11): e1009188, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33141826

RESUMO

Zona Pellucida domain (ZP) proteins are critical components of the body's external-most protective layers, apical extracellular matrices (aECMs). Although their loss or dysfunction is associated with many diseases, it remains unclear how ZP proteins assemble in aECMs. Current models suggest that ZP proteins polymerize via their ZPn subdomains, while ZPc subdomains modulate ZPn behavior. Using the model organism C. elegans, we investigated the aECM assembly of one ZP protein, LET-653, which shapes several tubes. Contrary to prevailing models, we find that LET-653 localizes and functions via its ZPc domain. Furthermore, we show that ZPc domain function requires cleavage at the LET-653 C-terminus, likely in part to relieve inhibition of the ZPc by the ZPn domain, but also to promote some other aspect of ZPc domain function. In vitro, the ZPc, but not ZPn, domain bound crystalline aggregates. These data offer a new model for ZP function whereby the ZPc domain is primarily responsible for matrix incorporation and tissue shaping.


Assuntos
Proteínas de Caenorhabditis elegans/metabolismo , Matriz Extracelular/metabolismo , Mucinas/metabolismo , Animais , Animais Geneticamente Modificados , Caenorhabditis elegans , Proteínas de Caenorhabditis elegans/genética , Linhagem Celular , Drosophila , Embrião não Mamífero , Modelos Animais , Mucinas/genética , Mutação , Agregados Proteicos/genética , Domínios Proteicos/genética
20.
Am J Med Genet A ; 182(12): 2926-2938, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33043588

RESUMO

Pathogenic variants in the homologous and highly conserved genes-CREBBP and EP300-are causal for Rubinstein-Taybi syndrome (RSTS). CREBBP and EP300 encode histone acetyltransferases (HAT) that act as transcriptional co-activators, and their haploinsufficiency causes the pathology characteristic of RSTS by interfering with global transcriptional regulation. Though generally a well-characterized syndrome, there is a clear phenotypic spectrum; rare associations have emerged with increasing diagnosis that is critical for comprehensive understanding of this rare syndrome. We present 12 unreported patients with RSTS found to have EP300 variants discovered through gene sequencing and chromosomal microarray. Our cohort highlights rare phenotypic features associated with EP300 variants, including imperforate anus, retained fetal finger pads, and spina bifida occulta. Our findings support the previously noted prevalence of pregnancy-related hypertension/preeclampsia seen with this disease. We additionally performed a meta-analysis on our newly reported 12 patients and 62 of the 90 previously reported patients. We demonstrated no statistically significant correlation between phenotype severity (within the domains of intellectual disability and major organ involvement, as defined in our Methods section) and variant location and type; this is in contrast to the conclusions of some smaller studies and highlights the importance of large patient cohorts in characterization of this rare disease.


Assuntos
Proteína p300 Associada a E1A/genética , Mutação , Síndrome de Rubinstein-Taybi/patologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Estudos de Associação Genética , Humanos , Lactente , Masculino , Prognóstico , Síndrome de Rubinstein-Taybi/genética
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