keyword
MENU ▼
Read by QxMD icon Read
search

Fanconi

keyword
https://www.readbyqxmd.com/read/29222242/treatment-of-inherited-bone-marrow-failure-syndromes-beyond-transplantation
#1
REVIEW
Rodrigo T Calado, Diego V Clé
Despite significant progress in transplantation by the addition of alternative hematopoietic stem cell sources, many patients with inherited bone marrow failure syndromes are still not eligible for a transplant. In addition, the availability of sequencing panels has significantly improved diagnosis by identifying cryptic inherited cases. Androgens are the main nontransplant therapy for bone marrow failure in dyskeratosis congenita and Fanconi anemia, reaching responses in up to 80% of cases. Danazol and oxymetholone are more commonly used, but virilization and liver toxicity are major adverse events...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222241/inherited-bone-marrow-failure-syndromes-considerations-pre-and-posttransplant
#2
REVIEW
Blanche P Alter
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222240/old-and-new-tools-in-the-clinical-diagnosis-of-inherited-bone-marrow-failure-syndromes
#3
REVIEW
Allison H West, Jane E Churpek
Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29218530/tracking-glut2-translocation-by-live-cell-imaging
#4
Sabina Tsytkin-Kirschenzweig, Merav Cohen, Yaakov Nahmias
The facilitative glucose transporter (GLUT) family plays a key role in metabolic homeostasis, controlling the absorption rates and rapid response to changing carbohydrate levels. The facilitative GLUT2 transporter is uniquely expressed in metabolic epithelial cells of the intestine, pancreas, liver, and kidney. GLUT2 dysfunction is associated with several pathologies, including Fanconi-Bickel syndrome, a glycogen storage disease, characterized by growth retardation and renal dysfunction. Interestingly, GLUT2 activity is modulated by its cellular localization...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29216900/treatment-with-a-dna-methyltransferase-inhibitor-feminizes-zebrafish-and-induces-long-term-expression-changes-in-the-gonads
#5
Laia Ribas, Konstantinos Vanezis, Marco Antonio Imués, Francesc Piferrer
BACKGROUND: The role of epigenetic modifications such as DNA methylation during vertebrate sexual development is far from being clear. Using the zebrafish model, we tested the effects of one of the most common DNA methyltransferase (dnmt) inhibitor, 5-aza-2'-deoxycytidine (5-aza-dC), which is approved for the treatment of acute myeloid leukaemia and is under active investigation for the treatment of solid tumours. Several dose-response experiments were carried out during two periods, including not only the very first days of development (0-6 days post-fertilization, dpf), as done in previous studies, but also, and as a novelty, the period of gonadal development (10-30 dpf)...
December 8, 2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/29205674/free-light-chain-associated-fanconi-syndrome-in-an-adolescent
#6
Ayaka Mori, Shojiro Watanabe, Kazushi Tsuruga, Kensuke Joh, Hiroshi Tanaka
No abstract text is available yet for this article.
December 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29203412/comparable-outcomes-after-hla-matched-sibling-and-alternative-donor-hematopoietic-cell-transplantation-for-children-with-fanconi-anemia-and-severe-aplastic-anemia
#7
Christen L Ebens, Todd E DeFor, Rebecca Tryon, John E Wagner, Margaret L MacMillan
Fanconi anemia (FA) associated severe aplastic anemia (SAA) requires allogeneic hematopoietic cell transplantation (HCT) for cure. With the evolution of conditioning regimens over time, alternative donor HCT (AD-HCT) outcomes have dramatically improved. We compared outcomes of HLA-matched sibling donor HCT (MSD-HCT, n=17) to AD-HCT (n=57) for FAassociated SAA at a single institution from 2001-2016. Overall survival at five years was 94 vs. 86%, neutrophil engraftment 100 vs. 95%, platelet recovery 100 vs. 89%, grade II-IV acute GVHD 6 vs...
December 1, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29199190/fanconi-syndrome-in-the-adulthood-the-role-of-early-diagnosis-and-treatment
#8
A Karatzas, D Paridis, D Kozyrakis, V Tzortzis, M Samarinas, Z Dailiana, T Karachalios
No abstract text is available yet for this article.
December 1, 2017: Journal of Musculoskeletal & Neuronal Interactions
https://www.readbyqxmd.com/read/29198440/fanconi-anemia-signaling-and-cancer
#9
REVIEW
Manoj Nepal, Raymond Che, Jun Zhang, Chi Ma, Peiwen Fei
The extremely high cancer incidence associated with patients suffering from a rare human genetic disease, Fanconi anemia (FA), demonstrates the importance of FA genes. Over the course of human tumor development, FA genes perform critical tumor-suppression roles. In doing so, FA provides researchers with a unique genetic model system to study cancer etiology. Here, we review how aberrant function of the 22 FA genes and their signaling network contributes to malignancy. From this perspective, we will also discuss how the knowledge discovered from FA research serves basic and translational cancer research...
December 2017: Trends in Cancer
https://www.readbyqxmd.com/read/29197907/fanconi-anaemia-and-oral-squamous-cell-carcinoma-management-considerations
#10
Thasvir Singh, Kavin Andi
Fanconi anaemia (FA) is a rare multi-system genetic disorder where patients are susceptible to the development of oral malignancies. Clinicians involved in their management should be vigilant in detecting lesions early, and an individualised treatment plan should then be formulated. Although surgery forms the mainstay of oncological treatment, adjuvant therapy can be instituted with care. Unfortunately, prognosis is poor, and close long-term follow-up is required. This short report describes pertinent management considerations in relation to a case of oral squamous cell carcinoma...
December 1, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#11
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
November 30, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29181263/cytogenetic-study-is-not-essential-in-patients-with-aplastic-anemia
#12
Atreyee Dutta, Rajib De, Tuphan K Dolai, Pradip K Mitra, Ajanta Halder
Depending on contemporary treatment approach of aggressive immunosuppression, Aplastic Anemia (AA) is caused by immunological destruction of otherwise normal hematopoietic stem cells. The aim was to summarize the cytogenetic abnormalities in AA patients and the frequency of Fanconi Anemia (FA) in morphologically normal AA patients in eastern India. Ethical clearances were obtained from both institutions involved in this study. Out of 72800 patients attending the outpatient department, 520 pancytopenia patients were screened for AA after Bone marrow (BM) aspiration and biopsy...
2017: American Journal of Blood Research
https://www.readbyqxmd.com/read/29167218/concomitant-aids-cholangiopathy-and-fanconi-syndrome-as-complications-of-hiv-in-a-single-patient
#13
Robert Maweni, Jins Kallampallil, Szewai Leong, Srikanth Akunuri
We describe the case of a 50-year-old woman presenting to our acute medicine department with generalised non-specific symptoms on a background of HIV managed on triple therapy (tenofovir, lamivudine and zidovudine). On admission, she was noted to be acidotic with proteinuria, glycosuria, hypophosphataemia and generalised body pain, and was diagnosed with Fanconi's renotubular syndrome secondary to tenofovir. It was also noted that she had elevated liver dysfunction markers, and an MRI of the liver revealed a focal stricture near the ampulla of Vater, resulting in a diagnosis of AIDS cholangiopathy...
November 21, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29167174/inherited-bone-marrow-failure-syndromes-considerations-pre-and-posttransplant
#14
REVIEW
Blanche P Alter
Patients with inherited bone marrow failure syndromes are usually identified when they develop hematologic complications such as severe bone marrow failure, myelodysplastic syndrome, or acute myeloid leukemia. They often have specific birth defects or other physical abnormalities that suggest a syndrome, and sequencing of specific genes or next-generation sequencing can determine or confirm the particular syndrome. The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome...
November 23, 2017: Blood
https://www.readbyqxmd.com/read/29163953/hypokalemia-a-potentially-life-threatening-complication-of-tenofovir-therapy
#15
Abhilash Koratala, Rupam Ruchi
Tenofovir is a nucleotide analog reverse transcriptase inhibitor approved for the treatment of HIV and hepatitis B infections. It is widely prescribed and an integral part of the recommended regimens for the treatment of HIV infection in antiretroviral-naive patients. Tenofovir is implicated in renal proximal tubular dysfunction, which can be associated with Fanconi syndrome and hypokalemia. When the hypokalemia is severe, it can lead to life-threatening complications. We describe the case of a 59-year-old woman who suffered a cardiac arrest secondary to severe hypokalemia from tenofovir use...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29154021/diagnosis-of-fanconi-anaemia-by-ionising-radiation-or-mitomycin-c-induced-micronuclei
#16
Flavia Zita Francies, Rosalind Wainwright, Janet Poole, Kim De Leeneer, Ilse Coene, Greet Wieme, Hélène A Poirel, Bénédicte Brichard, Stephanie Vermeulen, Anne Vral, Jacobus Slabbert, Kathleen Claes, Ans Baeyens
Fanconi Anaemia (FA) is an autosomal recessive disorder characterised by defects in DNA repair, associated with chromosomal instability and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (MMC). The FA repair pathway involves complex DNA repair mechanisms crucial for genomic stability. Deficiencies in DNA repair genes give rise to chromosomal radiosensitivity. FA patients have shown increased clinical radiosensitivity by exhibiting adverse normal tissue side-effects. The study aimed to investigate chromosomal radiosensitivity of homozygous and heterozygous carriers of FA mutations using three micronucleus (MN) assays...
November 8, 2017: DNA Repair
https://www.readbyqxmd.com/read/29152775/new-insights-into-diagnosis-and-therapeutic-options-for-proliferative-hepatoblastoma
#17
Katarzyna B Hooks, Jérôme Audoux, Helena Fazli, Sarah Lesjean, Tony Ernault, Nathalie-Dugot Senant, Thierry Leste-Lasserre, Martin Hagedorn, Benoit Rousseau, Coralie Danet, Sophie Branchereau, Laurence Brugières, Sophie Taque, Catherine Guettier, Monique Fabre, Anne Rullier, Marie-Annick Buendia, Thérèse Commes, Christophe F Grosset, Anne-Aurélie Raymond
Surgery and cisplatin-based treatment of hepatoblastoma (HB) currently guarantee the survival of 70-80% of patients. However, some important challenges remain in diagnosing high risk tumors and identifying relevant targetable pathways offering new therapeutic avenues. Previously, two molecular subclasses of hepatoblastoma tumors have been described, namely C1 and C2; C2 being the subgroup with the poorest prognosis, a more advanced tumor stage and the worst overall survival rate. An associated 16-gene signature to discriminate the two tumoral subgroups was proposed but it has not been transferred into clinical routine...
November 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29150103/body-composition-of-fanconi-anemia-patients-after-hematopoietic-stem-cell-transplantation
#18
Priscilla Peixoto Policarpo da Silva, Daniella Schmit, Carmem Bonfim, Denise Johnsson Campos, Estela Iraci Rabito, Regina Maria Vilela
INTRODUCTION: Fanconi anemia is a rare genetic disease linked to bone marrow failure; a possible treatment is hematopoietic stem cell transplantation. Changes in the nutritional status of Fanconi anemia patients are not very well known. This study aimed to characterize body composition of adult, children and adolescent patients with Fanconi anemia who were submitted to hematopoietic stem cell transplantation or not. METHODS: This cross-sectional study enrolled 63 patients (29 adults and 34 children and adolescents)...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#19
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Naddia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% bone marrow blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29145330/pathologic-femoral-fracture-due-to-tenofovir-induced-fanconi-syndrome-in-patient-with-chronic-hepatitis-b-a-case-report
#20
You-Sung Suh, Dong-Il Chun, Sung-Woo Choi, Hwan-Woong Lee, Jae-Hwi Nho, Soon-Hyo Kwon, Jae-Ho Cho, Sung Hun Won
RATIONALE: We report a case of a hepatitis B virus (HBV)-positive patient with preexisting bone disease who developed tenofovir-induced Fanconi syndrome and subsequently sustained pathologic fracture. To our best knowledge, this is the first report in the English literature about pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B (CHB). The present report describes detailed our experience with the diagnosis of pathologic femoral fracture due to tenofovir-induced Fanconi syndrome and treatment...
November 2017: Medicine (Baltimore)
keyword
keyword
14246
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"