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Article ; Online: Biomarkers of Response to Venetoclax Therapy in Acute Myeloid Leukemia.

Rodríguez-Medina, Carlos / Stuckey, Ruth / Bilbao-Sieyro, Cristina / Gómez-Casares, María Teresa

International journal of molecular sciences

2024 Volume 25, Issue 3

Abstract: Recent progress in the use of massive sequencing technologies has greatly enhanced our understanding of acute myeloid leukemia (AML) pathology. This knowledge has in turn driven the development of targeted therapies, such as venetoclax, a BCL-2 inhibitor ...

Abstract	Recent progress in the use of massive sequencing technologies has greatly enhanced our understanding of acute myeloid leukemia (AML) pathology. This knowledge has in turn driven the development of targeted therapies, such as venetoclax, a BCL-2 inhibitor approved for use in combination with azacitidine, decitabine, or low-dose cytarabine for the treatment of newly diagnosed adult patients with AML who are not eligible for intensive chemotherapy. However, a significant number of AML patients still face the challenge of disease relapse. In this review, we will explore biomarkers that may predict disease progression in patients receiving venetoclax-based therapy, considering both clinical factors and genetic changes. Despite the many advances, we conclude that the identification of molecular profiles for AML patients who will respond optimally to venetoclax therapy remains an unmet clinical need.
MeSH term(s)	Adult ; Humans ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/pathology ; Antineoplastic Agents/therapeutic use ; Bridged Bicyclo Compounds, Heterocyclic/therapeutic use ; Biomarkers ; Sulfonamides
Chemical Substances	venetoclax (N54AIC43PW) ; Antineoplastic Agents ; Bridged Bicyclo Compounds, Heterocyclic ; Biomarkers ; Sulfonamides
Language	English
Publishing date	2024-01-24
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25031421
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Article: High factor VIII levels and arterial thrombosis: illustrative case and literature review.

Algahtani, Farjah Hassan / Stuckey, Ruth

Therapeutic advances in hematology

2019 Volume 10, Page(s) 2040620719886685

Abstract: Thrombotic disorders are one of the most common causes of morbidity and mortality in developing and developed countries. Several well-known genetic traits underlie predisposition to venous thrombosis. In particular, high factor VIII levels are a risk ... ...

Abstract	Thrombotic disorders are one of the most common causes of morbidity and mortality in developing and developed countries. Several well-known genetic traits underlie predisposition to venous thrombosis. In particular, high factor VIII levels are a risk factor for venous thrombosis and coronary artery disease (CAD). However, similar insight into the genetic component of arterial thrombosis predisposition has not materialized fully, despite considerable effort. The authors present an illustrative case of a 32-year-old Saudi Arabian patient with peripheral arterial thrombosis whose only identifiable risk factor were high factor VIII levels. We also provide a comprehensive review of the current state of knowledge concerning the role of high factor VIII levels in determining the risk of arterial thrombosis or ischemic heart disease (IHD). We conclude that high factor VIII levels are a risk factor for thrombosis, with a greater impact on venous than on arterial thrombosis. However, due to a lack of international consensus on methods for the laboratory testing of factor VIII levels in plasma, we would not currently recommend the measurement of factor VIII levels as part of routine thrombophilia screening.
Language	English
Publishing date	2019-11-20
Publishing country	England
Document type	Case Reports
ZDB-ID	2585183-4
ISSN	2040-6215 ; 2040-6207
ISSN (online)	2040-6215
ISSN	2040-6207
DOI	10.1177/2040620719886685
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Article ; Online: Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.

Stuckey, Ruth / Gómez-Casares, María Teresa

International journal of molecular sciences

2021 Volume 22, Issue 9

Abstract: Genetic studies in the past decade have improved our understanding of the molecular basis of ... ...

Abstract	Genetic studies in the past decade have improved our understanding of the molecular basis of the
MeSH term(s)	Humans ; Janus Kinase 2/antagonists & inhibitors ; Janus Kinase 2/genetics ; Mutation/genetics ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/drug therapy ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/pathology ; Polycythemia Vera/diagnosis ; Polycythemia Vera/drug therapy ; Polycythemia Vera/genetics ; Polycythemia Vera/pathology ; Prognosis ; Protein Kinase Inhibitors/therapeutic use ; Thrombosis/drug therapy ; Thrombosis/genetics ; Thrombosis/pathology
Chemical Substances	Protein Kinase Inhibitors ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
Language	English
Publishing date	2021-05-10
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22095042
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Article ; Online: Molecular Studies for the Early Detection of Philadelphia-Negative Myeloproliferative Neoplasms.

Stuckey, Ruth / Bilbao-Sieyro, Cristina / Segura-Díaz, Adrián / Gómez-Casares, María Teresa

International journal of molecular sciences

2023 Volume 24, Issue 16

Abstract: ... ...

Abstract	JAK2
MeSH term(s)	Humans ; Early Detection of Cancer ; Genome-Wide Association Study ; Germ-Line Mutation ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Neoplasms
Language	English
Publishing date	2023-08-11
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms241612700
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Article ; Online: Discontinuation of Tyrosine Kinase Inhibitors in Patients with Chronic Myeloid Leukemia: a Review of the Biological Factors Associated with Treatment-Free Remission.

Stuckey, Ruth / López Rodríguez, Juan Francisco / Gómez-Casares, María Teresa

Current oncology reports

2022 Volume 24, Issue 4, Page(s) 415–426

Abstract: Purpose of review: Clinical factors alone do not enable us to differentiate which patients will maintain treatment-free remission (TFR) from those who are likely to relapse. Thus, patient-specific factors must also play a role. This review will update ... ...

Abstract	Purpose of review: Clinical factors alone do not enable us to differentiate which patients will maintain treatment-free remission (TFR) from those who are likely to relapse. Thus, patient-specific factors must also play a role. This review will update the reader on the most recent studies presenting biological factors that can help predict tyrosine kinase inhibitor (TKI) discontinuation success. Recent findings: Cellular and molecular factors with a suggested role in TFR include immune factors and leukemic stem cell (LSC) persistence; the BCR::ABL1 transcript type, halving time, and BCR::ABL1 DNA and RNA positivity; as well as other molecular factors such as somatic mutations, RNA expression, and telomere length. Our review presents several biomarkers with predictive value for TFR but also highlights areas of unmet need. Future discontinuation guidelines will likely include biological factors for the personalization of TFR prediction. However, it will be important that such advances do not prevent more patients from making a TKI discontinuation attempt.
MeSH term(s)	Biological Factors ; Fusion Proteins, bcr-abl/genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics ; Protein Kinase Inhibitors/therapeutic use ; Remission Induction
Chemical Substances	Biological Factors ; Protein Kinase Inhibitors ; Fusion Proteins, bcr-abl (EC 2.7.10.2)
Language	English
Publishing date	2022-02-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2057359-5
ISSN	1534-6269 ; 1523-3790
ISSN (online)	1534-6269
ISSN	1523-3790
DOI	10.1007/s11912-022-01228-w
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Zs.A 5521: Show issues

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Article: Secondary hemosiderosis presented by porphyria cutanea tarda in a kidney dialysis patient: A case report.

AlGahtani, Farjah H / Stuckey, Ruth / Alqahtany, Fatima S

SAGE open medical case reports

2020 Volume 8, Page(s) 2050313X20907815

Abstract: A 68-year-old woman with chronic kidney disease receiving dialysis and iron supplementation presented to our hospital with painful blisters, fragile skin, and changes to skin pigmentation on the dorsal side of both upper and lower limbs. Skin biopsy ... ...

Abstract	A 68-year-old woman with chronic kidney disease receiving dialysis and iron supplementation presented to our hospital with painful blisters, fragile skin, and changes to skin pigmentation on the dorsal side of both upper and lower limbs. Skin biopsy findings and an increase in urine porphyrins confirmed the diagnosis of porphyria cutanea tarda. Upon examination, extremely high serum ferritin levels (6000 µg/L) suggested iron overload. Oral iron supplementation was immediately discontinued, and the patient received treatment with the iron chelators deferoxamine, 10 mg/kg/day intravenously for 4 days, and deferasirox, 540 mg/day orally. After a 4-month follow-up, ferritin levels were normal (97.7 µg/L) and the cutaneous manifestations of porphyria cutanea tarda had improved. Complete remission has been maintained for the last 2 years, and the patient's liver and heart function are normal. This case of porphyria cutanea tarda caused by secondary hemosiderosis highlights the potential toxicity of iron accumulation as a result of excessive iron supplementation. Although not approved for the treatment of patients on hemodialysis, we report the efficacy of deferasirox without any adverse effects in this case. We also stress the importance of the close monitoring of serum iron levels in kidney dialysis-and indeed all iron-supplemented-patients to avoid potential hepatic, cardiac, and endocrine damage.
Language	English
Publishing date	2020-02-22
Publishing country	England
Document type	Case Reports
ZDB-ID	2736953-5
ISSN	2050-313X
ISSN	2050-313X
DOI	10.1177/2050313X20907815
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Article ; Online: Telemedicine is helping the parents of children with neurodevelopmental disorders living in remote and deprived areas.

Stuckey, Ruth / Domingues-Montanari, Sophie

Paediatrics and international child health

2017 Volume 37, Issue 3, Page(s) 155–157

Abstract: Telecommunication technologies are advancing rapidly with huge investment to improve infrastructure in rural areas. Telemedicine brings the benefits of telecommunication to healthcare, especially in resource-limited and remote communities. The recent ... ...

Abstract	Telecommunication technologies are advancing rapidly with huge investment to improve infrastructure in rural areas. Telemedicine brings the benefits of telecommunication to healthcare, especially in resource-limited and remote communities. The recent literature on telemedicine in paediatrics will be reviewed, with particular focus on its application to help children with neurodevelopmental disorders and their families living in remote regions and/or low-income countries, and gaps identified for future research. Studies show that telemedicine can enable a family's access to appropriately qualified help that physically may only be available hundreds of miles away, helping to overcome geographic barriers. Telemedicine can also train parents and equip them with the knowledge and skills to better care for their children. Despite some technological barriers to implementation, telemedicine can help transform all stages of autism treatment. However, more studies are required in low- and middle-income countries to fully elucidate the benefits offered by telemedicine to autistic children and their families.
Language	English
Publishing date	2017-08
Publishing country	England
Document type	Journal Article
ZDB-ID	2649065-1
ISSN	2046-9055 ; 2046-9047
ISSN (online)	2046-9055
ISSN	2046-9047
DOI	10.1080/20469047.2017.1315914
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Zs.A 1674: Show issues

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Article: Presence of Myeloid Mutations in Patients with Chronic Myeloid Leukemia Increases Risk of Cardiovascular Event on Tyrosine Kinase Inhibitor Treatment.

Stuckey, Ruth / Segura-Díaz, Adrián / Sáez Perdomo, María Nieves / Pérez Encinas, Manuel Mateo / González San Miguel, Jóse David / Florido, Yanira / Sánchez-Sosa, Santiago / López-Rodríguez, Juan Francisco / Bilbao-Sieyro, Cristina / Gómez-Casares, María Teresa

Cancers

2023 Volume 15, Issue 13

Abstract: For chronic myeloid leukemia (CML) patients with a known risk of cardiovascular events (CVE), imatinib is often recommended for first-line tyrosine kinase inhibitor (TKI) treatment rather than a second-generation TKI (2G-TKI) such as nilotinib or ... ...

Abstract	For chronic myeloid leukemia (CML) patients with a known risk of cardiovascular events (CVE), imatinib is often recommended for first-line tyrosine kinase inhibitor (TKI) treatment rather than a second-generation TKI (2G-TKI) such as nilotinib or dasatinib. To date, very few studies have evaluated the genetic predisposition associated with CVE development on TKI treatment. In this retrospective study of 102 CML patients, 26 CVEs were reported during an average follow-up of over 10 years. Next-generation sequencing identified pathogenic/likely pathogenic mutations in genes associated with myeloid malignancies in 24.5% of the diagnostic samples analyzed. Patients with a recorded CVE had more myeloid mutations (0.48 vs. 0.14,
Language	English
Publishing date	2023-06-28
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers15133384
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Article ; Online: The experience of seeking, gaining and maintaining employment after traumatic spinal cord injury and the vocational pathways involved.

Hilton, Gillean / Unsworth, Carolyn A / Stuckey, Ruth / Murphy, Gregory C

Work (Reading, Mass.)

2018 Volume 59, Issue 1, Page(s) 67–84

Abstract: Background: Vocational potential in people with spinal cord injury (SCI) are unrealised with rates of employment substantially lower than in the labour force participation of the general population and the pre-injury employment rates.: Objectives: To ...

Abstract	Background: Vocational potential in people with spinal cord injury (SCI) are unrealised with rates of employment substantially lower than in the labour force participation of the general population and the pre-injury employment rates. Objectives: To understand the experience and pathway of people achieving employment outcome after traumatic spinal cord injury by; classifying participants into employment outcome groups of stable, unstable and without employment; identifying pre and post-injury pathways for participants in each group and, exploring the experiences of people of seeking, gaining and maintaining employment. Methods: Thirty-one participants were interviewed. Mixed methods approach including interpretive phenomenological analysis and vocational pathway mapping of quantitative data. Results: The most common pathway identified was from study and work pre-injury to stable employment post-injury. Four super-ordinate themes were identified from the interpretive phenomenological analysis; expectations of work, system impacts, worker identity and social supports. Implications for clinical practice include fostering cultural change, strategies for system navigation, promotion of worker identity and optimal use of social supports. Conclusions: The findings increase insight and understanding of the complex experience of employment after spinal cord injury. There is opportunity to guide experimental research, policy development and education concerning the complexity of the return to work experience and factors that influence pathways.
MeSH term(s)	Adolescent ; Adult ; Aged ; Employment/methods ; Employment/psychology ; Female ; Humans ; Male ; Middle Aged ; Qualitative Research ; Rehabilitation, Vocational/methods ; Return to Work/psychology ; Spinal Cord Injuries/complications ; Spinal Cord Injuries/psychology ; Spinal Cord Injuries/rehabilitation ; Wounds and Injuries/psychology
Language	English
Publishing date	2018-02-13
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1394194-x
ISSN	1875-9270 ; 1051-9815
ISSN (online)	1875-9270
ISSN	1051-9815
DOI	10.3233/WOR-172660
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Zs.A 4810: Show issues

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Article: Integration of molecular testing for the personalized management of patients with diffuse large B-cell lymphoma and follicular lymphoma.

Stuckey, Ruth / Luzardo Henríquez, Hugo / de la Nuez Melian, Haridian / Rivero Vera, José Carlos / Bilbao-Sieyro, Cristina / Gómez-Casares, María Teresa

World journal of clinical oncology

2021 Volume 14, Issue 4, Page(s) 160–170

Abstract: Diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL) are the most common forms of aggressive and indolent lymphoma, respectively. The majority of patients are cured by standard R-CHOP immunochemotherapy, but 30%-40% of DLBCL and 20% of FL ... ...

Abstract	Diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL) are the most common forms of aggressive and indolent lymphoma, respectively. The majority of patients are cured by standard R-CHOP immunochemotherapy, but 30%-40% of DLBCL and 20% of FL patients relapse or are refractory (R/R). DLBCL and FL are phenotypically and genetically hereterogenous B-cell neoplasms. To date, the diagnosis of DLBCL and FL has been based on morphology, immunophenotyping and cytogenetics. However, next-generation sequencing (NGS) is widening our understanding of the genetic basis of the B-cell lymphomas. In this review we will discuss how integrating the NGS-based characterization of somatic gene mutations with diagnostic or prognostic value in DLBCL and FL could help refine B-cell lymphoma classification as part of a multidisciplinary pathology work-up. We will also discuss how molecular testing can identify candidates for clinical trials with targeted therapies and help predict therapeutic outcome to currently available treatments, including chimeric antigen receptor T-cell, as well as explore the application of circulating cell-free DNA, a non-invasive method for patient monitoring. We conclude that molecular analyses can drive improvements in patient outcomes due to an increased understanding of the different pathogenic pathways affected by each DLBCL subtype and indolent FL
Language	English
Publishing date	2021-09-20
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2587357-X
ISSN	2218-4333
ISSN	2218-4333
DOI	10.5306/wjco.v14.i4.160
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