placeholder
and
and

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Proceed order?

Export
Filter
Language
Year
  • 1
    Language: English
    In: British journal of haematology, 2019-02, Vol.184 (3), p.337-347
    Description: Summary The scenario of paediatric acute myeloid leukaemia (AML), particularly non‐Down syndrome acute megakaryoblastic leukaemia (non‐DS‐AMKL), has been recently revolutionized by the advent of large‐scale, genomic sequencing technologies. In this changing landscape, a significantly relevant discovery has been represented by the identification of the CBFA2T3‐GLIS2 fusion gene, which is the result of a cryptic inversion of chromosome 16. It is the most frequent chimeric oncogene identified to date in non‐DS‐AMKL, although it seems not to be exclusively restricted to the French‐American‐British M7 subgroup. The CBFA2T3‐GLIS2 fusion gene characterizes a subtype of leukaemia that is specific to paediatrics, having never been identified in adults. It characterizes an extremely aggressive leukaemia, as the presence of this fusion is associated with a grim outcome in almost all of the case series reported, with overall survival rates ranging between 15% and 30%. Although the molecular basis that underlies this leukaemia subtype is still far from being completely elucidated, unique functional properties induced by CBFA2T3‐GLIS2 in the leukaemogenesis driving process have been recently identified. We here review the peculiarities of CBFA2T3‐GLIS2‐positive AML, describing its intriguing clinical and biological behaviour and providing some challenging targeting opportunities.
    Subject(s): childhood leukaemia ; acute megakaryoblastic leukaemia ; leukaemia diagnosis ; CBFA2T3‐GLIS2 ; acute myeloid leukaemia ; Life Sciences & Biomedicine ; Hematology ; Science & Technology ; Oncogene Proteins, Fusion - metabolism ; Humans ; Leukemia, Myeloid, Acute - metabolism ; Child, Preschool ; Infant ; Male ; Kruppel-Like Transcription Factors - metabolism ; Tumor Suppressor Proteins - genetics ; Female ; Child ; Infant, Newborn ; Leukemia, Myeloid, Acute - therapy ; Repressor Proteins - metabolism ; Chromosomes, Human, Pair 16 - genetics ; Tumor Suppressor Proteins - metabolism ; Chromosomes, Human, Pair 16 - metabolism ; Repressor Proteins - genetics ; Survival Rate ; Leukemia, Myeloid, Acute - mortality ; Disease-Free Survival ; Animals ; Oncogene Proteins, Fusion - genetics ; Adolescent ; Kruppel-Like Transcription Factors - genetics ; Leukemia, Myeloid, Acute - genetics ; Reviews ; Review
    ISSN: 0007-1048
    E-ISSN: 1365-2141
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Alma/SFX Local Collection
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Language: English
    In: BMC biology, 2010-04-07, Vol.8 (1), p.33-33
    Description: Neoplastic overgrowth depends on the cooperation of several mutations ultimately leading to major rearrangements in cellular behaviour. Precancerous cells are often removed by cell death from normal tissues in the early steps of the tumourigenic process, but the molecules responsible for such a fundamental safeguard process remain in part elusive. With the aim to investigate the molecular crosstalk occurring between precancerous and normal cells in vivo, we took advantage of the clonal analysis methods that are available in Drosophila for studying the phenotypes due to lethal giant larvae (lgl) neoplastic mutation induced in different backgrounds and tissues. We observed that lgl mutant cells growing in wild-type imaginal wing discs show poor viability and are eliminated by Jun N-terminal Kinase (JNK)-dependent cell death. Furthermore, they express very low levels of dMyc oncoprotein compared with those found in the surrounding normal tissue. Evidence that this is a cause of lgl mutant cells elimination was obtained by increasing dMyc levels in lgl mutant clones: their overgrowth potential was indeed re-established, with mutant cells overwhelming the neighbouring tissue and forming tumourous masses displaying several cancer hallmarks. Moreover, when lgl mutant clones were induced in backgrounds of slow-dividing cells, they upregulated dMyc, lost apical-basal cell polarity and were able to overgrow. Those phenotypes were abolished by reducing dMyc levels in the mutant clones, thereby confirming its key role in lgl-induced tumourigenesis. Furthermore, we show that the eiger-dependent Intrinsic Tumour Suppressor pathway plays only a minor role in eliminating lgl mutant cells in the wing pouch; lgl-/- clonal death in this region is instead driven mainly by dMyc-induced Cell Competition. Our results provide the first evidence that dMyc oncoprotein is required in lgl tumour suppressor mutant tissue to promote invasive overgrowth in larval and adult epithelial tissues. Moreover, we show that dMyc abundance inside versus outside the mutant clones plays a key role in driving neoplastic overgrowth.
    Subject(s): Tumor Suppressor Proteins - metabolism ; Epithelial Cells - metabolism ; Drosophila Proteins - metabolism ; Gene Knockout Techniques ; Mutation - genetics ; DNA-Binding Proteins - metabolism ; Transcription Factors - metabolism ; Phenotype ; Animals ; Cell Death - genetics ; Cell Transformation, Neoplastic - genetics ; Tumor Suppressor Proteins - genetics ; Fluorescent Antibody Technique ; Drosophila Proteins - genetics ; Genetic aspects ; Cell death ; Health aspects ; Analysis ; Drosophila ; Cancer ; Research article
    ISSN: 1741-7007
    E-ISSN: 1741-7007
    Source: BioMedCentral Open Access
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    Language: English
    In: International journal of molecular sciences, 2021-01-26, Vol.22 (3), p.1197
    Description: The gut microbiome has emerged as a major character in the context of hematopoietic stem cell transplantation. The biology underpinning this relationship is still to be defined. Recently, mounting evidence has suggested a role for microbiome-derived metabolites in mediating crosstalk between intestinal microbial communities and the host. Some of these metabolites, such as fiber-derived short-chain fatty acids or amino acid-derived compounds, were found to have a role also in the transplant setting. New interesting data have been published on this topic, posing a new intriguing perspective on comprehension and treatment. This review provides an updated comprehensive overview of the available evidence in the field of gut microbiome-derived metabolites and hematopoietic stem cell transplantation.
    Subject(s): Amino Acids - metabolism ; Microbiota ; Animals ; Humans ; Riboflavin - metabolism ; Gastrointestinal Microbiome ; Dietary Fiber - metabolism ; Hematopoietic Stem Cell Transplantation ; Metabolome ; Fatty Acids, Volatile - metabolism ; Transplantation, Homologous ; Polyamines - metabolism ; hematopoietic stem cell transplantation ; gut microbiome ; Review ; graft-vs-host disease ; metabolome
    ISSN: 1661-6596
    E-ISSN: 1422-0067
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    Language: English
    In: Nature genetics, 2009-11, Vol.41 (11), p.1243-1246
    Description: Aneuploidy and translocations are hallmarks of B-progenitor acute lymphoblastic leukemia (ALL), but many individuals with this cancer lack recurring chromosomal alterations. Here we report a recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes X and Y in B-progenitor ALL that juxtaposes the first, noncoding exon of P2RY8 with the coding region of CRLF2. We identified the P2RY8-CRLF2 fusion in 7% of individuals with B-progenitor ALL and 53% of individuals with ALL associated with Down syndrome. CRLF2 alteration was associated with activating JAK mutations, and expression of human P2RY8-CRLF2 together with mutated mouse Jak2 resulted in constitutive Jak-Stat activation and cytokine-independent growth of Ba/F3 cells overexpressing interleukin-7 receptor alpha. Our findings indicate that these two genetic lesions together contribute to leukemogenesis in B-progenitor ALL.
    Subject(s): Fundamental and applied biological sciences. Psychology ; Hematologic and hematopoietic diseases ; Medical genetics ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Biological and medical sciences ; Genetics of eukaryotes. Biological and molecular evolution ; Medical sciences ; Chromosome aberrations ; Chromosome Deletion ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - complications ; Amino Acid Sequence ; Cell Line ; Humans ; Janus Kinase 2 - genetics ; Recombinant Fusion Proteins - metabolism ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics ; Animals ; Receptors, Cytokine - chemistry ; Base Sequence ; Gene Rearrangement ; Janus Kinase 2 - metabolism ; Receptors, Purinergic P2 - genetics ; Receptors, Purinergic P2 - metabolism ; Down Syndrome - genetics ; Down Syndrome - complications ; Recombinant Fusion Proteins - genetics ; Mice ; Receptors, Cytokine - metabolism ; Receptors, Cytokine - genetics ; Gene mutations ; Genetic aspects ; Acute lymphocytic leukemia ; Research ; Down syndrome ; Health aspects ; Risk factors
    ISSN: 1061-4036
    E-ISSN: 1546-1718
    Source: Single Journals
    Source: Academic Search Ultimate
    Source: Nature Journals Online
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    Language: English
    In: International journal of molecular sciences, 2020-08-28, Vol.21 (17), p.6251
    Description: Nowadays, thanks to extensive studies and progress in precision medicine, pediatric leukemia has reached an extremely high overall survival rate. Nonetheless, a fraction of relapses and refractory cases is still present, which are frequently correlated with poor prognosis. Although several molecular features of these diseases are known, still the field of energy metabolism, which is widely studied in adult, has not been frequently explored in childhood leukemias. Metabolic reprogramming is a hallmark of cancer and is deeply connected with other genetic and signaling aberrations generally known to be key features of both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). This review aims to clear the current knowledge on metabolic rewiring in pediatric ALL and AML, also highlighting the influence of the main signaling pathways and suggesting potential ideas to further exploit this field to discover new prognostic biomarkers and, above all, beneficial therapeutic options.
    Subject(s): Recurrence ; Prognosis ; Humans ; Leukemia, Myeloid, Acute - metabolism ; Antineoplastic Agents - therapeutic use ; Clinical Trials as Topic ; Gene Regulatory Networks - drug effects ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - metabolism ; Signal Transduction - drug effects ; Leukemia, Myeloid, Acute - drug therapy ; Antineoplastic Agents - pharmacology ; Child ; Energy Metabolism - drug effects ; Precision Medicine ; leukemia ; metabolomics ; molecular approaches ; metabolism ; Review ; signal transduction inhibitors ; pediatric tumors ; metabolism/metabolomics
    ISSN: 1422-0067
    ISSN: 1661-6596
    E-ISSN: 1422-0067
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Language: English
    In: Pediatric blood & cancer, 2020-12, Vol.67 (12), p.e28711-n/a
    Description: The gut microbiome (GM) has been associated with different clinical outcomes in the context of allogeneic hematopoietic stem cell transplantation (HSCT). Large multicenter cohort studies in adults have found significant correlations with overall survival, relapse, and incidence of complications. Moreover, GM is already a promising target for therapeutic interventions. However, few data are available in children, a population presenting unique features and challenges. During childhood, the GM evolves rapidly with large structural fluctuations, alongside with the maturation of the immune system. Furthermore, the HSCT procedure presents significant differences in children. These considerations underline the importance of a specific focus on the pediatric setting, and the role of GM and its age‐dependent trajectory in influencing the immunity reconstitution and clinical outcomes. This review provides a comprehensive overview of the available evidence in the field of GM and pediatric HSCT, highlighting age‐specific issues and discussing GM‐based therapeutic approaches.
    Subject(s): bloodstream infections ; hematopoietic stem cell transplantation ; graft‐versus‐host disease ; gut microbiome ; fecal microbiota transplantation ; pediatric ; Hematologic Neoplasms - therapy ; Humans ; Hematopoietic Stem Cell Transplantation - adverse effects ; Gastrointestinal Microbiome - immunology ; Graft vs Host Disease - etiology ; Transplantation, Homologous ; Graft vs Host Disease - pathology
    ISSN: 1545-5009
    E-ISSN: 1545-5017
    Source: Alma/SFX Local Collection
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    Language: English
    In: International journal of molecular sciences, 2021-04-28, Vol.22 (9), p.4651
    Description: Asthma exacerbations are associated with significant childhood morbidity and mortality. Recurrent asthma attacks contribute to progressive loss of lung function and can sometimes be fatal or near-fatal, even in mild asthma. Exacerbation prevention becomes a primary target in the management of all asthmatic patients. Our work reviews current advances on exacerbation predictive factors, focusing on the role of non-invasive biomarkers and genetics in order to identify subjects at higher risk of asthma attacks. Easy-to-perform tests are necessary in children; therefore, interest has increased on samples like exhaled breath condensate, urine and saliva. The variability of biomarker levels suggests the use of seriate measurements and composite markers. Genetic predisposition to childhood asthma onset has been largely investigated. Recent studies highlighted the influence of single nucleotide polymorphisms even on exacerbation susceptibility, through involvement of both intrinsic mechanisms and gene-environment interaction. The role of molecular and genetic aspects in exacerbation prediction supports an individual-shaped approach, in which follow-up planning and therapy optimization take into account not only the severity degree, but also the risk of recurrent exacerbations. Further efforts should be made to improve and validate the application of biomarkers and genomics in clinical settings.
    Subject(s): genetic ; exacerbation risk ; non-invasive ; biomarkers ; asthma ; Review ; exacerbation prevention ; prevention ; exacerbation
    ISSN: 1422-0067
    ISSN: 1661-6596
    E-ISSN: 1422-0067
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    Language: English
    In: Medicina (Kaunas, Lithuania), 2021-01-30, Vol.57 (2), p.124
    Description: Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. We tried to emphasize the diagnostic criteria, differential diagnosis, and therapeutic strategies. Another primary mast cell disorder is mastocytosis, a condition with a long-known disease, in which patients have an increased number of mast cells that accumulate in different regions of the body with different clinical evolution in pediatric age. Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.
    Subject(s): Diagnosis, Differential ; Mastocytosis - diagnosis ; Humans ; Biomarkers ; Child ; Syndrome ; Mast Cells ; urinary leukotriene E4 ; mastocytosis ; N-methylhistamine ; mast cell ; C-Kit ; Review ; hereditary alpha-tryptasemia ; tryptase ; 1,4-methylhistamine ; 9 alpha,11 beta- prostaglandin F2α
    ISSN: 1648-9144
    ISSN: 1010-660X
    E-ISSN: 1648-9144
    Source: PubMed Central
    Source: Alma/SFX Local Collection
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    Language: English
    In: Environment international, 2013-01, Vol.51, p.27-30
    Description: Due to their widespread diffusion, perfluoroalkyl substances (PFASs) have been frequently found in the environment and in several animal species. It has been demonstrated that they can easily reach also humans, mainly through diet. Being lactation a major route of elimination of these contaminants, their occurrence in human milk is of particular interest, especially considering that it generally represents the unique food source for newborns. Perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA), the two most important compounds of this family, have been frequently found in human milk at variable concentrations, but still limited data are available. The present study, the first conducted in Italy capable to detect these pollutants at ultra-trace levels by UPLC-MS/MS, confirmed the role of lactation as a relevant source of exposure for breastfed children. The measured concentrations ranged between 15 and 288 ng/L for PFOS and between 24 and 241 ng/L for PFOA. Moreover, mean concentrations and frequencies of both analytes resulted higher in milk samples provided by primiparous women, suggesting that the risk of intake might be higher for first-borns. Finally, comparing these results with previous data, PFOS gradual decrease over time since year 2000 was confirmed. ► We performed the first survey on perfluoroalkyl substances presence in human milk from Italy. ► Exposure to perfluoroalkyl substances seems potentially higher for first-born infants. ► Results confirm the gradual decrease of measured levels of PFOS over time.
    Subject(s): PFASs ; PFOA ; LC–MS/MS ; PFOS ; Breast milk ; Environment. Living conditions ; Public health. Hygiene-occupational medicine ; Public health. Hygiene ; Biological and medical sciences ; Medical sciences ; Lactation ; Risk Assessment ; Diet - statistics & numerical data ; Humans ; Fluorocarbons - metabolism ; Breast Feeding - statistics & numerical data ; Environmental Pollutants - metabolism ; Caprylates - metabolism ; Milk, Human - chemistry ; Tandem Mass Spectrometry ; Caprylates - analysis ; Alkanesulfonic Acids - analysis ; Female ; Italy ; Alkanesulfonic Acids - metabolism ; Environmental Exposure - statistics & numerical data ; Environmental Pollutants - analysis ; Milk, Human - metabolism ; Fluorocarbons - analysis ; Surveys ; Breast feeding ; Ammonium perfluorooctanoate
    ISSN: 0160-4120
    E-ISSN: 1873-6750
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    Language: English
    In: Frontiers in pediatrics, 2019-11-15, Vol.7, p.463-463
    Description: Acute myeloid leukemia (AML) is a hematopoietic disorder characterized by numerous cytogenetic and molecular aberrations that accounts for similar to 25% of childhood leukemia diagnoses. The outcome of children with AML has increased remarkably over the past 30 years, with current survival rates up to 70%, mainly due to intensification of standard chemotherapy and improvements in risk classification, supportive care, and minimal residual disease monitoring. However, childhood AML prognosis remains unfavorable and relapse rates are still around 30%. Therefore, novel therapeutic approaches are needed to increase the cure rate. In AML, the presence of gene mutations and rearrangements prompted the identification of effective targeted molecular strategies, including kinase inhibitors, cell pathway inhibitors, and epigenetic modulators. This review will discuss several new drugs that recently received US Food and Drug Administration approval for AML treatment and promising strategies to treat childhood AML, including FLT3 inhibitors, epigenetic modulators, and Hedgehog pathway inhibitors.
    Subject(s): Life Sciences & Biomedicine ; Pediatrics ; Science & Technology ; targeted therapy ; FLT-3 inhibitors ; Pediatric AML ; Hedgehog pathway inhibitors ; DOT1L inhibitors
    ISSN: 2296-2360
    E-ISSN: 2296-2360
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: PubMed Central
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...