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BACKGROUND: Skin cancer is a prevalent cancer in the UK. Its rising incidence and mortality rates are expected to result in substantial financial implications, particularly on diagnostic and treatment services for skin cancer management in Northern Ireland (NI). Such anticipated disease increases underscore the need for prevention and control measures that should help guide policymaking and planning efforts. METHODS: We conducted a cost of illness study to assess the economic impact of skin cancer in NI from the healthcare system's perspective, using a bottom-up method, employing NHS reference costs (UK£) for skin cancer diagnosis and treatment patient pathways in 2021/22. Sensitivity analyses varied diagnostic volumes by applying multipliers for benign cases, assuming a diagnostic conversion rate of 6.8%, and examined an alternative chemotherapy regimen compliance rate of 75%. Additionally, proportional cost increases were projected based on future estimated increases of 9% and 28% to malignant melanoma (MM) cases for diagnostic, treatment, and follow-up volumes. RESULTS: Significant numbers of non-melanoma skin cancers (NMSC) and MM cases were recorded, 4289 NMSCs and 439 MM cases. The total cost for managing NMSC was £ 3,365,350. Total costs for MM skin cancer were £ 13,740,681, including £ 8,753,494 for procurement, administration, and chemotherapy drug use. Overall healthcare spending on skin cancer care totalled £ 21,167,651. Sensitivity analysis suggested diagnostic cost may increase significantly to £ 12,374,478 based on referral volume assumptions. If base case rates rise by 9 or 28% estimated total costs of treating skin cancer will increase to £ 22.3 million and £ 24.9 million, respectively. CONCLUSIONS: Skin cancer management costs in NI totalled â¼£ 21.1 million to £ 32.1 million, depending on diagnostic referral assumptions. Costs have risen â¼10-fold over the past decade for MM due largely to chemotherapy costs. A predicted 28% increase in MM cases by 2040 would lead to â¼£ 3.8 million of additional expenditures, providing a significant challenge for cancer health systems.
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Atención a la Salud , Neoplasias Cutáneas , Humanos , Irlanda del Norte/epidemiología , Neoplasias Cutáneas/diagnóstico , Gastos en Salud , PielRESUMEN
Ensembl (https://www.ensembl.org) is a freely available genomic resource that has produced high-quality annotations, tools, and services for vertebrates and model organisms for more than two decades. In recent years, there has been a dramatic shift in the genomic landscape, with a large increase in the number and phylogenetic breadth of high-quality reference genomes, alongside major advances in the pan-genome representations of higher species. In order to support these efforts and accelerate downstream research, Ensembl continues to focus on scaling for the rapid annotation of new genome assemblies, developing new methods for comparative analysis, and expanding the depth and quality of our genome annotations. This year we have continued our expansion to support global biodiversity research, doubling the number of annotated genomes we support on our Rapid Release site to over 1700, driven by our close collaboration with biodiversity projects such as Darwin Tree of Life. We have also strengthened support for key agricultural species, including the first regulatory builds for farmed animals, and have updated key tools and resources that support the global scientific community, notably the Ensembl Variant Effect Predictor. Ensembl data, software, and tools are freely available.
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Bases de Datos Genéticas , Genómica , Animales , Genoma , Anotación de Secuencia Molecular , Filogenia , Programas Informáticos , HumanosRESUMEN
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma among children and adolescents. The management of RMS involves risk stratification of the patients based on various clinicopathological characteristics. The multimodality treatment approach requires chemotherapy, surgery, and/or radiation. The treatment of RMS necessitates the involvement of multiple disciplines, such as pathology, pediatric oncology, surgery, and radiation oncology. The disease heterogeneity, molecular testing, evolving treatment regimens, and limited resources are some of the challenges faced by clinicians while treating a patient with RMS in low- and middle-income countries (LMICs). In this review, we endeavor to bring experts from varying fields to address clinicians' common questions while managing a child or adolescent with RMS in LMICs. This review is most applicable to level 2 centers in LMICs as per the levels of services described by the Adapted Treatment Regimens Working Group of the Pediatric Oncology in Developing Countries committee of the International Society of Pediatric Oncology.
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Rabdomiosarcoma , Sarcoma , Niño , Adolescente , Humanos , Países en Desarrollo , Rabdomiosarcoma/patología , Terapia Combinada , América del NorteRESUMEN
PURPOSE: The Audio-Visual Assisted Therapeutic Ambience in Radiotherapy (AVATAR) system was the first published radiation therapy (RT)-compatible system to reduce the need for pediatric anesthesia through video-based distraction. We evaluated the feasibility of AVATAR implementation and effects on anesthesia use, quality of life, and anxiety in a multicenter pediatric trial. METHODS AND MATERIALS: Pediatric patients 3 to 10 years of age preparing to undergo RT at 10 institutions were prospectively enrolled. Children able to undergo at least 1 fraction of RT using AVATAR without anesthesia were considered successful (S). Patients requiring anesthesia for their entire treatment course were nonsuccessful (NS). The PedsQL3.0 Cancer Module (PedsQL) survey assessed quality of life and was administered to the patient and guardian at RT simulation, midway through RT, and at final treatment. The modified Yale Preoperative Anxiety Scale (mYPAS) assessed anxiety and was performed at the same 3 time points. Success was evaluated using the χ2 test. PedsQL and mYPAS scores were assessed using mixed effects models with time points evaluated as fixed effects and a random intercept on the subject. RESULTS: Eighty-one children were included; median age was 7 years. AVATAR was successful at all 10 institutions and with photon and proton RT. There were 63 (78%) S patients; anesthesia was avoided for a median of 20 fractions per patient. Success differed by age (P = .04) and private versus public insurance (P < .001). Both patient (P = .008) and parent (P = .006) PedsQL scores significantly improved over the course of RT for patients aged 5 to 7. Anxiety in the treatment room decreased for both S and NS patients over RT course (P < .001), by age (P < .001), and by S versus NS patients (P < .001). CONCLUSIONS: In this 10-center prospective trial, anesthesia avoidance with AVATAR was 78% in children aged 3 to 10 years, higher than among age-matched historical controls (49%; P < .001). AVATAR implementation is feasible across multiple institutions and should be further studied and made available to patients who may benefit from video-based distraction.
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Anestesia , Oncología por Radiación , Humanos , Niño , Preescolar , Estudios de Factibilidad , Estudios Prospectivos , Calidad de VidaRESUMEN
PURPOSE: Tenosynovial giant cell tumor (TGCT) is a rare proliferative disorder of synovial membrane that previously was known as pigmented villonodular synovitis. Primary treatment involves surgical resection; however, complete removal of all disease involvement is difficult to achieve. Radiation may be useful to reduce the risk of recurrence. We report and update our institutional experience treating diffuse and recurrent TGCT with postsurgical external beam radiation therapy. METHODS AND MATERIALS: We performed a retrospective chart review of 30 patients with TGCT from 2003 to 2019 treated with radiation therapy. Each patient was evaluated for demographics, radiation treatment parameters, surgical management, complications, and outcome. RESULTS: With mean follow-up of 82 months (range, 3-211), 24 patients (80%) who underwent surgery followed by radiation therapy did not experience any further relapse, and all 30 patients achieved local control (100%) with additional salvage therapy after radiation therapy. The most common site of disease was the knee (n = 22, 73%), followed by the ankle (n = 5, 16%) and the hand (n = 3, 10%). Seven patients (24%) presented at time of initial diagnosis and 23 (76%) presented with recurrent disease after surgical resection, with an average of 2.6 surgical procedures before radiation therapy. After resection, 18 of 30 patients (67%) demonstrated residual TGCT by imaging. The median radiation therapy dose delivered was 36 Gy (range, 34-36 Gy) in 1.8 to 2.5 Gy/fractions for 4 weeks. In the assessment of posttreatment joint function, 26 sites (86%) exhibited excellent or good function, 2 (7%) fair, and 2 poor (7%) as determined by our scoring system. There were no cases of radiation-associated malignancy. CONCLUSIONS: Among patients with diffuse or recurrent TGCT, postsurgical external beam radiation therapy provided excellent local control and good functional status, with minimal treatment-related complications. Postsurgical radiation therapy is a well-tolerated noninvasive treatment that should be considered after maximal cytoreductive resection to prevent disease progression and recurrence.
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Tumor de Células Gigantes de las Vainas Tendinosas , Sinovitis Pigmentada Vellonodular , Humanos , Estudios Retrospectivos , Tumor de Células Gigantes de las Vainas Tendinosas/radioterapia , Tumor de Células Gigantes de las Vainas Tendinosas/cirugía , Sinovitis Pigmentada Vellonodular/radioterapia , Sinovitis Pigmentada Vellonodular/cirugía , Sinovitis Pigmentada Vellonodular/patología , Progresión de la EnfermedadRESUMEN
Purpose: Children with leukemia who receive fractionated total body irradiation (fTBI) with 12 to 13.2 Gy as part of conditioning for hematopoietic stem cell transplant are frequently treated with an additional 4 Gy testicular boost to reduce the risk of testicular relapse. While institutional practices vary, limited data exists regarding whether the 4-Gy testicular boost reduces the risk of relapse and whether it causes toxicity beyond that imparted by TBI. This study compared the survival and endocrine outcomes among the patients who were treated with and without a testicular boost as part of fTBI from 1990 to 2019 at our center. Methods and Materials: We retrospectively reviewed charts of male children with leukemia treated with fTBI as part of a conditioning regimen for stem cell transplant from 1990 to 2019. Reported outcomes included progression-free survival, testicular relapse rate, and overall survival. Gonadal dysfunction and fertility were assessed by comparing the rate of abnormally low testosterone or high luteinizing hormone or follicular stimulating hormone, number of offspring, fertility service use, and abnormal sperm count in the subsequent follow-up period between the testicular boost and nonboost subset. Results: Ninety-three male patients (63 acute lymphoblastic leukemia, 30 acute myeloid leukemia) with a median age of 9 years (range, 1-22) and follow-up of 3.3 years were included. In addition to 12- to 13.2-Gy fTBI, 51 male patients (54%) received a testicular boost to 4 Gy. There was 1 testicular relapse in the boost subset and none in the nonboost subset. Five-year progression-free survival for the boost and nonboost subset was 74% and 66%, respectively (P = .31). On multivariable analysis, boost was not associated with improved relapse-free survival or overall survival. More patients in the boost subset (35 of 51, 69%) had abnormal serum gonadal blood work compared with the nonboost subset (18 of 42, 43%) (P = .03). Conclusions: Omission of testicular boost may be associated with comparable oncologic but improved gonadal endocrine outcomes and should be further studied.
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BACKGROUND/OBJECTIVES: Poor adherence to medical therapy is a major challenge to the effective treatment of chronic diseases including glaucoma. Potential factors influencing adherence include treatment complexity and patient understanding of disease and health beliefs. An increasing number of patients are seen in virtual clinics, where there is no face-to-face consultation, potentially reducing opportunities for patient education and reinforcement of the importance of treatment. The aim of this study was to examine adherence among patients attending a virtual glaucoma clinic. METHODS: 100 consecutive patients attending the virtual clinic were surveyed, with 78 using topical medications included in the analysis. All patients completed a validated adherence questionnaire with a score of >2 defined as poor adherence. The relationship between adherence and age, sex, duration since diagnosis, and disease severity was examined. RESULTS: The mean age was 73.1 ± 13.4 years, with an average mean deviation of -5.9 ± 5.5 dB and duration since first diagnosis of 9.0 ± 5.7 years. 93.6% reported self-instilling eye drops. Seventy-one patients (91.0 %) had good self-reported adherence. Multivariate logistic regression revealed those instilling eye drops independently had higher odds of good adherence. CONCLUSIONS: The level of medication adherence in the virtual glaucoma clinic was higher than adherence in previous studies examining patients attending face-to-face clinics. Virtual clinics should incorporate methods to ensure effective two-way communication with patients and strategies for patient education.
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Antihipertensivos , Glaucoma , Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Antihipertensivos/uso terapéutico , Glaucoma/tratamiento farmacológico , Cumplimiento de la Medicación , Encuestas y Cuestionarios , Soluciones OftálmicasRESUMEN
INTRODUCTION: 123 I-MIBG scan is used in neuroblastoma (NB) to monitor treatment response. Time to resolution of 123 I-MIBG avidity after radiation therapy (RT) is unknown. We sought to determine time to resolution of 123 I-MIBG avidity after RT and local failure (LF) rate. METHODS: We performed a retrospective review of children with high-risk NB who underwent 123 I-MIBG scans pre- and post-RT from 2003 to 2019. Time from RT to resolution of 123 I-MIBG activity was analysed. LF and cumulative incidence of local progression (CILP) after RT stratified by site, presence of residual disease and use of boost RT were determined. RESULTS: Forty-two patients with median age 3.9 years (1.9-4.7 years) were included, with median follow-up time 3.9 years (1.4-6.9). Eighty-six lesions were treated with RT to median dose of 21.6 Gy. Eighteen of 86 lesions were evaluable for time to resolution of MIBG avidity after RT, with median resolution time of 78 days (36-208). No LF occurred among 26 patients who received RT to primary sites after GTR, versus 4/12 (25%) patients treated with residual primary disease. 2-year CILP was 19% (12% primary disease 25% metastatic disease (P = 0.18)). 2-year CILP for non-residual primary, residual primary, non-residual metastatic and residual metastatic lesions was 0%, 42%, 11% and 30% respectively (P = 0.01) and for boosted and non-boosted residual lesions was 29% and 35% (P = 0.44). CONCLUSION: Median time to MIBG resolution after RT was 78 days. Primary lesions without residual disease had excellent local control. LF rate was higher after RT for residual disease, with no benefit for boost RT.
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3-Yodobencilguanidina , Neuroblastoma , Niño , Humanos , Preescolar , Neuroblastoma/diagnóstico por imagen , Radioisótopos de Yodo , CintigrafíaRESUMEN
Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line with both the publicly available genome data and the downstream research and applications that utilise the Ensembl platform. In recent years we have witnessed a dramatic shift in the genomic landscape. There has been a large increase in the number of high-quality reference genomes through global biodiversity initiatives. In parallel, there have been major advances towards pangenome representations of higher species, where many alternative genome assemblies representing different breeds, cultivars, strains and haplotypes are now available. In order to support these efforts and accelerate downstream research, it is our goal at Ensembl to create high-quality annotations, tools and services for species across the tree of life. Here, we report our resources for popular reference genomes, the dramatic growth of our annotations (including haplotypes from the first human pangenome graphs), updates to the Ensembl Variant Effect Predictor (VEP), interactive protein structure predictions from AlphaFold DB, and the beta release of our new website.
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Bases de Datos Genéticas , Programas Informáticos , Animales , Humanos , Anotación de Secuencia Molecular , Genómica , GenomaRESUMEN
BACKGROUND AND AIM: People who inject drugs are at high risk of contracting hepatitis C (HCV). The introduction of direct acting antiviral (DAA) drugs to treat HCV has the potential to transform care; however, uptake of DAAs has been slower than anticipated. The strong link between HCV and injecting drug use frames HCV as a shameful, stigmatising disease, reinforcing an 'addict' identity. Linking HCV care to a recovery journey, 'clean' identity and social redemption may provide compelling encouragement for people to engage with treatment and re-evaluate risk and behaviours, reducing the incidence of HCV re-infection. The aim of this review was to identify actions, interventions and treatments that provide an opportunity for a change in identity and support a recovery journey and the implications for HCV care. METHODS: Databases (MEDLINE, EMBASE, PsycINFO, ProQuest Public Health, ProQuest Sociological Abstracts, CINAHL and Web of Science) were searched following our published strategy and a grey literature search conducted. A narrative synthesis was undertaken to collate themes and identify common threads and provide an explanation of the findings. RESULTS: Thirty-two studies fulfilled the inclusion criteria. The narrative synthesis of the studies identified five over-arching analytical themes: social factors in substance use and recovery, therapeutic communities, community treatment, online communities, and finally women and youth subsets. The change from an 'addict' identity to a 'recovery' identity is described as a key aspect of a recovery journey, and this process can be supported through social support and turning point opportunities. CONCLUSIONS: Recovery from addiction is a socially mediated process. Actions, interventions and treatments that support a recovery journey provide social connections, a recovery identity and citizenship (reclaiming a place in society). There is a gap in current literature describing how pathways of care with direct acting antivirals can be designed to promote recovery, as part of hepatitis C care.
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Hepatitis C Crónica , Hepatitis C , Abuso de Sustancias por Vía Intravenosa , Trastornos Relacionados con Sustancias , Humanos , Femenino , Adolescente , Antivirales/uso terapéutico , Hepatitis C Crónica/tratamiento farmacológico , Abuso de Sustancias por Vía Intravenosa/epidemiología , Hepatitis C/tratamiento farmacológico , Hepatitis C/epidemiología , Hepacivirus , Trastornos Relacionados con Sustancias/tratamiento farmacológicoRESUMEN
GENCODE produces high quality gene and transcript annotation for the human and mouse genomes. All GENCODE annotation is supported by experimental data and serves as a reference for genome biology and clinical genomics. The GENCODE consortium generates targeted experimental data, develops bioinformatic tools and carries out analyses that, along with externally produced data and methods, support the identification and annotation of transcript structures and the determination of their function. Here, we present an update on the annotation of human and mouse genes, including developments in the tools, data, analyses and major collaborations which underpin this progress. For example, we report the creation of a set of non-canonical ORFs identified in GENCODE transcripts, the LRGASP collaboration to assess the use of long transcriptomic data to build transcript models, the progress in collaborations with RefSeq and UniProt to increase convergence in the annotation of human and mouse protein-coding genes, the propagation of GENCODE across the human pan-genome and the development of new tools to support annotation of regulatory features by GENCODE. Our annotation is accessible via Ensembl, the UCSC Genome Browser and https://www.gencodegenes.org.
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Biología Computacional , Genoma Humano , Humanos , Animales , Ratones , Anotación de Secuencia Molecular , Biología Computacional/métodos , Genoma Humano/genética , Transcriptoma/genética , Perfilación de la Expresión Génica , Bases de Datos GenéticasRESUMEN
BACKGROUND: There has been a paradigm shift in the treatment of Hepatitis C (HCV) from the interferon-era to direct-acting antiviral (DAA) drugs. Cure of HCV for the key risk group, those with a history of injecting drug use, may provide a range of benefits to an individual's quality of life that can be additional to that of a clinical cure. The interferon-era provided evidence that cure of HCV can be a turning point for those who use drugs, supporting a recovery journey. There remains a question if DAAs can provide the same opportunity. METHODS: We employed a scoping review methodology to consider the additional non-clinical benefits that HCV cure may provide. We used the theoretical construct of recovery capital to consider how these benefits may support a recovery journey in the DAA-era. RESULTS: Our search provided 2095 articles, from which 35 were included in the analysis. We developed a thematic synthesis of the non-clinical outcomes identified based on the four over-arching themes of recovery capital: physical, cultural, social and human capital. Our review suggests that identity change is a constituent part of each of the recovery capital domains in relation to HCV treatment. CONCLUSION: We identified Social Identity Model Of Recovery (SIMOR) as a mechanism through which DAAs may provide non-clinical outcomes to increase recovery capital domains. Further research is required to develop an understanding of the impact a cure of HCV with DAAs may have on identity, overall health and wellbeing and social inclusion to support recovery journeys.
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Hepatitis C Crónica , Hepatitis C , Antivirales/uso terapéutico , Hepacivirus , Hepatitis C/tratamiento farmacológico , Hepatitis C Crónica/tratamiento farmacológico , Humanos , Interferones/uso terapéutico , Calidad de Vida , Inclusión SocialRESUMEN
PURPOSE: Traditional management of metastatic sarcoma primarily relies on systemic therapy, with surgery often used for tumor control. We analyzed the rates of recurrence, overall survival, and treatment complications in patients undergoing either surgical resection or stereotactic body radiation therapy (SBRT) for metastatic sarcoma of the bone and/or soft tissue. METHODS AND MATERIALS: The records of patients with metastatic sarcoma between 2009 and 2020 were reviewed. Local recurrence (LR) was defined as tumor growth or recurrence at the tumor site. Cumulative LR incidence was analyzed accounting for the competing risk of death, and groups were compared using the Gray test. Overall survival (OS) was assessed using the Kaplan-Meier method and log-rank test. Hazard ratios were determined using the Cox proportional hazards model. RESULTS: A total of 525 metastatic lesions in 217 patients were analyzed. The mean age of patients was 57 years (range, 4-88 years). The lung was the predominant site treated (50%), followed by intra-abdominal (13%) and soft tissue (11%). Two-year cumulative incidences of LR for surgery and SBRT were 14.8% (95% confidence interval [CI], 11.6%-18.5%) and 1.7% (95% CI, 0.1%-8.2%), respectively (P = .003). Local recurrence occurred in 72 (16.5%) of 437 tumors treated with surgery and 2 (2.3%) of 88 tumors treated with SBRT. The adjusted hazard ratio for LR of lesions treated surgically was 11.5 (P = .026) when controlling for tumor size and tumor site. Median OS was 29.8 months (95% CI, 25.6-40.9 months). There were 47 surgical complications among a total of 275 procedures (18%). Of 58 radiation treatment courses, radiation-related toxic effects were reported during the treatment of 7 lesions (12%), and none were higher than grade 2. CONCLUSIONS: We observed excellent local control among patients selected for treatment with SBRT for metastatic sarcoma, with no evidence of an increase in LR after SBRT compared with surgical management. Further investigation is necessary to better define the most appropriate local control strategies for metastatic sarcoma.
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Neoplasias Pulmonares , Neoplasias Primarias Secundarias , Radiocirugia , Sarcoma , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Estudios de Seguimiento , Humanos , Neoplasias Pulmonares/patología , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias Primarias Secundarias/cirugía , Radiocirugia/efectos adversos , Radiocirugia/métodos , Estudios Retrospectivos , Sarcoma/radioterapia , Sarcoma/cirugía , Adulto JovenRESUMEN
The Children's Oncology Group (COG) uses Clinical Group (CG) and modified Tumor Node Metastasis (TNM) stage to classify rhabdomyosarcoma (RMS). CG is based on surgicopathologic findings and is determined after the completion of initial surgical procedure(s) but prior to chemotherapy and/or radiation therapy. The modified TNM stage is based on clinical and radiographic findings and is assigned prior to any treatment. These systems have evolved over several decades. We review the history, evolution, and rationale behind the current CG and modified TNM classification systems used by COG for RMS. Data from the seven most recently completed and reported frontline COG trials (D9602, D9802, D9803, ARST0331, ARST0431, ARST0531, ARST08P1) were analyzed, and confirm that CG and modified TNM stage remain relevant and useful for predicting prognosis in RMS. We propose updates based on recent data and discuss factors warranting future study to further optimize these classification systems.
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Neoplasias Primarias Secundarias , Rabdomiosarcoma Embrionario , Rabdomiosarcoma , Niño , Humanos , Pronóstico , Rabdomiosarcoma/tratamiento farmacológico , Rabdomiosarcoma Embrionario/patologíaRESUMEN
INTRODUCTION: Hepatitis C virus (HCV) is a strongly stigmatised disease as it is framed within the context of injecting substance use. HCV provides the identity of 'dirty' or 'junky', with perceptions by others being beyond the control of the individual. People who experience problematic substance use are often viewed as being outside acceptable social behaviours, thus viewed as having tainted identities or second-class citizens. It is suggested that to recover from substance use, people should move towards social networks where substance use is not the norm and there is greater recovery support. The social identity model of recovery advocates that the mechanism to do this is by developing a new identity. It is unclear what catalysts provide this change in identity. This systematic review aims to describe actions, interventions and treatments that provide the opportunity for new identities and considers evidence that supports the hypothesis that curing HCV with direct acting antivirals may provide this opportunity. METHODS AND ANALYSIS: Methods are informed by the Preferred Reporting Items for Systematic reviews and Meta-Analysis statement. Seven electronic peer-reviewed and four grey literature sources were identified and preliminary searches have been conducted. The inclusion and exclusion criteria are broad to capture activities that result in a change in identity, recovery from substance use, quality of life, life satisfaction or the opportunity for the individual to reclaim their place in society (citizenship). Qualitative and quantitative literature are eligible. Papers will be assessed against standardised criteria and checked independently and in duplicate. A narrative synthesis of the findings will be reported, structured around intervention type, population context and outcomes. ETHICS AND DISSEMINATION: This systematic review will be based on studies that have already been conducted and therefore no ethical approvals are required. The resulting findings will be submitted to an international peer-reviewed journal and disseminated at relevant research conferences. PROSPERO REGISTRATION NUMBER: CRD42020209447.
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Hepatitis C Crónica , Hepatitis C , Trastornos Relacionados con Sustancias , Antivirales/uso terapéutico , Hepacivirus , Hepatitis C/tratamiento farmacológico , Humanos , Calidad de Vida , Proyectos de Investigación , Trastornos Relacionados con Sustancias/terapia , Revisiones Sistemáticas como AsuntoRESUMEN
Children and adolescents with rhabdomyosarcoma (RMS) comprise a heterogeneous population with variable overall survival rates ranging between approximately 6% and 100% depending on defined risk factors. Although the risk stratification of patients has been refined across five decades of collaborative group studies, molecular prognostic biomarkers beyond FOXO1 fusion status have yet to be incorporated prospectively in upfront risk-based therapy assignments. This review describes the evolution of risk-based therapy and the current risk stratification, defines a new risk stratification incorporating novel biomarkers, and provides the rationale for the current and upcoming Children's Oncology Group RMS studies.
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Rabdomiosarcoma Embrionario , Rabdomiosarcoma , Adolescente , Niño , Fusión Génica , Humanos , Rabdomiosarcoma/terapia , Medición de Riesgo , Factores de RiesgoRESUMEN
The brain utilizes glucose as its main source of energy. Traumatic brain injuries may alter the brain's ability to shuttle glucose effectively; therefore, the symptoms experienced may be a signal of the dysregulation. The objective of this cross-sectional study was to investigate the presence of any specific food cravings during the first week post-concussion and if the consumption of such a food decreased the symptoms of concussion. The link to the survey was posted on 4 Canadian organization websites from November 2020 to February 2021. Any individual over 18 years old who had suffered one of more concussions in the past 12 months was included. 73 females and 24 males, the majority aged 18-40 years, completed the survey. Participants with combined carbohydrate and sweet cravings reported significantly more symptoms of increased emotions (p=0.04), irritability (p=0.03), sadness (p=0.04), nervousness (p=0.03), and sleep disturbances (p=0.05) than those without these cravings. Consumption of the craved food did not change the concussion symptoms.
Le cerveau utilise le glucose comme principale source d'énergie. Les lésions cérébrales traumatiques peuvent altérer la capacité du cerveau à transporter le glucose de manière efficace; par conséquent, les symptômes ressentis peuvent être un signal de ce dérèglement. L'objectif de cette étude transversale était d'enquêter sur la présence de toute envie irrésistible de manger un aliment particulier pendant la première semaine suivant la commotion cérébrale et de déterminer si la consommation d'un tel aliment diminuait les symptômes de la commotion. Le lien vers l'enquête a été publié sur les sites Web de 4 organisations canadiennes de novembre 2020 à février 2021. Toute personne de plus de 18 ans ayant subi une ou plusieurs commotions cérébrales au cours des 12 derniers mois était incluse. 73 femmes et 24 hommes, âgés en majorité de 18 à 40 ans, ont répondu à l'enquête. Les participants ayant des envies combinées de glucides et de sucreries ont signalé considérablement plus de symptômes d'augmentation des émotions (p=0,04), d'irritabilité (p=0,03), de tristesse (p=0,04), de nervosité (p=0,03) et de troubles du sommeil (p=0,05) que ceux n'ayant pas ces envies. La consommation de l'aliment objet de l'envie n'a pas modifié les symptômes de la commotion cérébrale.
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Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive annotation for key species. Genomes representing a greater diversity of species are increasingly being sequenced. In response, we have focussed our recent efforts on expediting the annotation of new assemblies. Here, we report the release of the greatest annual number of newly annotated genomes in the history of Ensembl via our dedicated Ensembl Rapid Release platform (http://rapid.ensembl.org). We have also developed a new method to generate comparative analyses at scale for these assemblies and, for the first time, we have annotated non-vertebrate eukaryotes. Meanwhile, we continually improve, extend and update the annotation for our high-value reference vertebrate genomes and report the details here. We have a range of specific software tools for specific tasks, such as the Ensembl Variant Effect Predictor (VEP) and the newly developed interface for the Variant Recoder. All Ensembl data, software and tools are freely available for download and are accessible programmatically.