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Dyhr Westergaard ha publicado una actualización hace 3 dias, 4 horas
counseling and education from the multidisciplinary team, addressing language barriers as well as religious and cultural beliefs in an attempt to optimize reproductive options.
Consanguineous couples are a vulnerable group in the prenatal setting. Although adverse perinatal outcomes in this group are more common secondary to congenital anomalies, despite the evolution of genomic sequencing technologies, due to a lower uptake of prenatal testing it is less likely that a unifying diagnosis is obtained and recurrence can occur. There is a need for proactive genetic counseling and education from the multidisciplinary team, addressing language barriers as well as religious and cultural beliefs in an attempt to optimize reproductive options.Whether changes in cellular metabolism precede tumor formation and trigger malignant properties or simply serve as a bioenergetic adaptation of cancer during disease progression remains debated. Bonnay et al (2020) now show that a metabolic reprogramming toward increased oxidative phosphorylation is required for irreversible cell immortalization and subsequent tumor formation.In territorial species, nonterritorial floaters may be critical to population dynamics. One theoretical framework, based on the assumption that floating is a strategic decision to forego reproduction, predicts that selection maintains an abundant floater population even if low-quality territories are available. However, existing models make two critical assumptions all individuals have equal competitive ability, and every individual in a population has access to every available territory. We assess the consequences of relaxing these assumptions in a model of asymmetric competition with a trade-off between investment in competitiveness and reproductive success. Our results demonstrate that selection for greater competitiveness eliminates floater production unless the outcome of territorial contests has a strong stochastic component. Next, we suppose individuals can compete for territories only within a fixed neighborhood. If this constraint is sufficiently strong, our model predicts that a population will produce floaters. Finally, we show that our model makes novel predictions regarding the maintenance of trait variation and the relationship between this variation and the distribution of competitors among unequal territories.
NTRK-rearranged sarcomas are emerging as a distinct class of sarcomas of particular importance in the era of targeted therapy. The aim of this study was to use array comparative genomic hybridisation (aCGH) to explore the cytogenetic profile of six adult soft tissue sarcomas harbouring NTRK gene fusions.
aCGH was performed on six adult soft tissue sarcomas with proven NTRK rearrangements [NTRK1, n=1 (TPM3-NTRK1); NTRK2, n=1 (MTMR2-NTRK2); NTRK3, n=4 (two ETV6-NTRK3; two with unknown partners). The morphological patterns of these cases included inflammatory myofibroblastic tumour-like, fibrosarcoma/malignant peripheral nerve sheath tumour-like, and Ewing sarcoma-like. On OTX008 of the number of chromosomal copy number variations (CNVs), ranging from two to 15 per sample, NTRK-associated sarcomas could be subdivided into two groups one with a relatively simple karyotype (n=2; median of three genomic alterations), and those with a more complex karyotype (n=4; median of 11 genomic imbalances). Recurrent chelate with more aggressive clinical behaviour. Gains at chromosome 6p and 1q were the most common recurrent genomic alterations, being present in 67% of the samples (4/6), followed by gains at chromosome 7, which were present in 50% of the samples (3/6).Histone lysine demethylases (KDMs) are enzymes that remove the methylation marks on lysines in nucleosomes’ histone tails. These changes in methylation marks regulate gene transcription during both development and malignant transformation. Depending on which lysine residue is targeted, the effect of a given KDM on gene transcription can be either activating or repressing, and KDMs can regulate the expression of both oncogenes and tumour suppressors. Thus, the functions of KDMs can be regarded as both oncogenic and tumour suppressive, contingent on cell context and the enzyme isoform. Finally, KDMs also demethylate nonhistone proteins and have a variety of demethylase-independent functions. These epigenetic and other mechanisms that KDMs control make them important regulators of malignant tumours. Here, we present an overview of eight KDM subfamilies, their most-studied lysine targets and selected recent data on their roles in cancer stem cells, tumour aggressiveness and drug tolerance.
To understand the knowledge, preferences, and barriers for self-collected cervical cancer screening (SC-CCS) and follow-up care at the individual and health system level to inform the implementation of community-based SC-CCS.
Surveys and focus group discussions (FGDs) with women and FGDs with healthcare providers were conducted in Uganda. Survey data were analyzed using frequencies and FGD data were analyzed using thematic content analysis. Data were triangulated between methods.
Sixty-four women were surveyed and 58 participated in FGDs. Facilitators to screening access included decentralization, convenience, privacy, confidentiality, knowledge, and education. Barriers to accessing screening included lack of transportation and knowledge, long wait times, difficulty accessing health care, and lack of trust in the health system. #link# Additional implementation challenges included insufficiently trained human resources and lack of infrastructure.
Integrating SC-CCS within rural health systems in low-resource settings has been under-evaluated. Community-based SC-CSS could prevent high cervical cancer-related mortalities while working within the human and financial resource limitations of rural health systems. SC-CCS is acceptable to women and healthcare providers. By addressing rural women’s preferences and barriers to care, decision-makers can build health systems that provide community-centered care close to women’s homes across the care continuum.
Integrating SC-CCS within rural health systems in low-resource settings has been under-evaluated. Community-based SC-CSS could prevent high cervical cancer-related mortalities while working within the human and financial resource limitations of rural health systems. SC-CCS is acceptable to women and healthcare providers. By addressing rural women’s preferences and barriers to care, decision-makers can build health systems that provide community-centered care close to women’s homes across the care continuum.