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https://www.readbyqxmd.com/read/28212262/molecular-cytogenetic-approach-to-characterize-novel-and-cryptic-chromosome-abnormalities-in-childhood-myeloid-malignances-of-fanconi-anemia
#1
Maria L R Borges, Roberto R Capela de Matos, Bethânia D A Silva Amaral, Eliane M Soares-Ventura, Edinalva P Leite, Mariluze O D Silva, Maria T M Nogueira Cornélio, Maria L M Silva, Thomas Liehr, Terezinha D J Marques-Salles
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28211564/the-genomics-of-inherited-bone-marrow-failure-from-mechanism-to-the-clinic
#2
REVIEW
Talia Wegman-Ostrosky, Sharon A Savage
The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients...
February 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28203135/successful-treatment-of-hepatocellular-carcinoma-complicated-by-fanconi-anemia
#3
Koji Takahashi, Eiichiro Suzuki, Masayuki Yokoyama, Masanori Inoue, Toru Wakamatsu, Tomoko Saito, Yuko Kusakabe, Sadahisa Ogasawara, Yoshihiko Ooka, Akinobu Tawada, Yuhei Nagao, Chiaki Nakaseko, Tetsuhiro Chiba
A 42-year-old woman with liver tumors was referred to our hospital. Her condition was complicated by Fanconi anemia, and she had undergone total laryngectomy 8 years ago. On admission, contrast-enhanced computed tomography revealed hypervascular tumors in the right hepatic lobe. Ultrasound-guided tumor biopsy revealed that the tumor comprised moderately differentiated hepatocellular carcinoma. Although the patient exhibited preserved liver function (Child-Pugh A), complete blood count revealed severe pancytopenia...
January 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28198397/cystinosis-ctns-zebrafish-mutant-shows-pronephric-glomerular-and-tubular-dysfunction
#4
Mohamed A Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A de Witte, Hans J Baelde, Lambertus P van den Heuvel, Elena Levtchenko
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28196964/fancd2-binds-human-papillomavirus-genomes-and-associates-with-a-distinct-set-of-dna-repair-proteins-to-regulate-viral-replication
#5
Chelsey C Spriggs, Laimonis A Laimins
The life cycle of human papillomavirus (HPV) is dependent on the differentiation state of its host cell. HPV genomes are maintained as low-copy episomes in basal epithelial cells and amplified to thousands of copies per cell in differentiated layers. Replication of high-risk HPVs requires the activation of the ataxia telangiectasia-mutated (ATM) and ATM and Rad3-related (ATR) DNA repair pathways. The Fanconi anemia (FA) pathway is a part of the DNA damage response and mediates cross talk between the ATM and ATR pathways...
February 14, 2017: MBio
https://www.readbyqxmd.com/read/28192889/effects-of-aristolochic-acid-i-and-or-hypokalemia-on-tubular-damage-in-c57bl-6-rat-with-aristolochic-acid-nephropathy
#6
Joo-Hark Yi, Sang-Woong Han, Wan-Young Kim, Jin Kim, Moon-Hyang Park
Background/Aims: This study was designed to investigate the roles of aristolochic acid I (AA-I) and hypokalemia in acute aristolochic acid nephropathy (AAN). Methods: After an adaptation period (1 week), a total of 40 C57BL/6 mice (male, 8 weeks old) were divided into four groups: I (control group), II (low potassium [K] diet), III (normal K diet with administration of AA-I [10 mg/kg weight]), and IV (low K diet with AA-I). After collecting 24 hours of urine at 2 weeks, the mice were sacrificed, and their blood and kidneys were obtained to perform immunochemical staining and/or Western blot analysis...
February 15, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28191805/ring-chromosome-may-signal-progression-of-fanconi-anemia
#7
Ream Elzain Abdelgadir, Kulthom Mohamed, Imad Fadl Elmula
BACKGROUND: Fanconi anemia (FA) is a genomic instability disorder associated with high risk of AML. Ring chromosomes are results of genomic instability and observed in many human neoplasias. The present study aimed to assess the role of ring chromosome in the progression of FA. MATERIAL AND METHODS: The study included 60 patients with provisional diagnosis of FA. A total of 5 ml of venous blood was collected and processed for complete hemogram, peripheral blood film, and breakage test...
September 2016: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#8
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28185119/biallelic-brca2-mutations-in-two-black-south-african-children-with-fanconi-anaemia
#9
Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause
Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28184344/a-case-of-acute-tubulointerstitial-nephritis-associated-with-rifampin-therapy-presenting-as-fanconi-like-syndrome
#10
Jun Tae Park, Sik Lee, Won Kim, Sung Kwang Park, Kyung Pyo Kang
No abstract text is available yet for this article.
January 2017: Chonnam Medical Journal
https://www.readbyqxmd.com/read/28179273/radiation-free-alternative-donor-hct-for-fanconi-anemia-patients-results-from-a-prospective-multi-institutional-study
#11
Parinda A Mehta, Stella M Davies, Thomas Leemhuis, Kasiani Myers, Nancy A Kernan, Susan E Prockop, Andromachi Scaradavou, Richard J O'Reilly, David A Williams, Leslie Lehmann, Eva Guinan, David Margolis, K Scott Baker, Adam Lane, Farid Boulad
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by chromosomal fragility, progressive marrow failure and cancer predisposition. Hematopoietic cell transplantation (HCT) is curative for FA-related marrow failure or leukemia, but both radiation exposure during transplant and graft-versus host disease (GVHD) may increase risk of later malignancies of the head and neck and anogenital area. In this study we tested a radiation-free conditioning regimen with a T-cell depleted graft to eliminate radiation exposure and minimize early as well as late toxicities of transplant...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28179096/long-term-efficacy-and-safety-of-switching-from-lamivudine-adefovir-to-tenofovir-disoproxil-fumarate-in-virologically-suppressed-patients
#12
Massimo Fasano, Paolo Maggi, Armando Leone, Anna Volpe, Jose Ramon Fiore, Gioacchino Angarano, Teresa Antonia Santantonio
BACKGROUND AND AIM: Tenofovir disoproxil fumarate (TDF) is recommended as first-line monotherapy for nucleos(t)ide (NA)-naïve chronic hepatitis B (CHB) patients and as a second-line rescue therapy for NA-experienced patients with a previous treatment failure. However, data regarding the efficacy of TDF monotherapy in patients with lamivudine resistance (LAM-R) successfully treated with LAM+adefovir (ADV) are limited. Herein, the efficacy and safety of switching from LAM+ADV to TDF monotherapy in clinical practice have been evaluated...
January 16, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28174693/fanconi-anemia-protein-fancd2-is-activated-by-aicar-a-modulator-of-ampk-and-cellular-energy-metabolism
#13
Min Jeong Chun, Hana Choi, Dong Wha Jun, Sunshin Kim, Yong-Nyun Kim, Soo-Youl Kim, Chang-Hun Lee
FANCD2 is a pivotal molecule in the pathogenesis of Fanconi anemia (FA), an autosomal recessive human syndrome with diverse clinical phenotypes, including cancer predisposition, short stature, and hematological abnormalities. In our previous study, we detected the functional association of FANC proteins, whose mutations are responsible for the onset of FA, with AMPK in response to DNA interstrand crosslinking lesions. Because AMPK is well known as a critical sensing molecule for cellular energy levels, we checked whether FANCD2 activation occurs after treatments affecting AMPK and/or cellular energy status...
February 2017: FEBS Open Bio
https://www.readbyqxmd.com/read/28162059/fanconi-anaemia
#14
Doreen Crawford, Annette Dearmun
Fanconi anaemia is a rare inherited genetic condition that can lead to aplastic anaemia and bone marrow failure. People with the condition have a predisposition to some cancers. The condition is named after Swiss paediatrician Guido Fanconi.
February 6, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28158987/pregnancy-in-fanconi-anaemia-with-bone-marrow-failure-a-case-report-and-review-of-the-literature
#15
Flavia Sorbi, Federico Mecacci, Alessandro Di Filippo, Massimiliano Fambrini
BACKGROUND: Fanconi anaemia is a rare inherited disease characterized by congenital abnormalities, progressive bone marrow failure and predisposition to malignancy. Successful pregnancies in transplanted patients have been reported. In this paper we will describe the pregnancy of a patient with Fanconi anaemia without transplantation. CASE PRESENTATION: A 34-year-old nulliparous woman with Fanconi anaemia was referred to our institution. Pregnancy was complicated by progressive pancytopenia and two severe infections...
February 3, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28157704/overlooked-fancd2-variant-encodes-a-promising-portent-tumor-suppressor-and-alternative-polyadenylation-contributes-to-its-expression
#16
Bing Hang, Yihang Shen, Piyan Zhang, Panneerselvam Jayabal, Raymond Che, Jun Zhang, Herbert Yu, Peiwen Fei
Fanconi Anemia (FA) complementation group D2 protein (FANCD2) is the center of the FA tumor suppressor pathway, which has become an important field of investigation in human aging and cancer. Here we report an overlooked central player in the FA pathway, FANCD2 variant 2 (FANCD2-V2), which appears to perform more potent tumor suppressor-function compared to the known variant of FANCD2, namely, FANCD2-V1. Detailed analysis of the FANCD2 gene structure indicated a proximal and distal polyadenylation site (PAS), associated with V2 and V1 transcripts accordingly...
February 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28146553/correction-the-rsf1-histone-remodelling-factor-facilitates-dna-double-strand-break-repair-by-recruiting-centromeric-and-fanconi-anaemia-proteins
#17
Fabio Pessina, Noel F Lowndes
[This corrects the article DOI: 10.1371/journal.pbio.1001856.].
February 2017: PLoS Biology
https://www.readbyqxmd.com/read/28141910/the-mechanism-of-valproic-acid-induced-fanconi-syndrome-involves-mitochondrial-dysfunction-and-oxidative-stress-in-rat-kidney
#18
Reza Heidari, Faezeh Jafari, Forouzan Khodaei, Babak Shirazi Yeganeh, Hossein Niknahad
AIM: Drug-induced kidney proximal tubular injury and renal failure (Fanconi syndrome; FS) is a clinical complication. Valproic acid (VPA) is among the FS-inducing drugs. The current investigation was designed to evaluate the role of mitochondrial dysfunction and oxidative stress in VPA-induced renal injury. METHODS: Animals received VPA (250 and 500 mg/kg, i.p., 15 consecutive days). Serum biomarkers of kidney injury and markers of oxidative stress were assessed...
January 31, 2017: Nephrology
https://www.readbyqxmd.com/read/28139070/pediatric-laryngeal-carcinoma-in-a-heterozygous-carrier-of-fanconi-anemia
#19
A M D'Souza, J Mark, M Demarcantonio, D Leino, R Sisson, J I Geller
A case of invasive, keratinizing squamous cell carcinoma of the larynx in an 8-year-old female treated with laryngectomy is presented. Perinatal exposure to human papilloma virus and constitutional heterozygosity for a FANCC mutation were identified, though FANCC heterozygosity is not known to be cancer predisposing. An additional tumor-associated mutation in NOTCH1 was also identified potentially contributing to oncogenesis. This case illustrates an exceedingly rare type of cancer in the pediatric population and discusses diagnostic workup, evaluation of risk factors for head and neck cancer, and treatment options...
January 31, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28138266/pregnancy-after-allogeneic-hematopoietic-stem-cell-transplantation-in-a-fanconi-anemia-patient
#20
Simin Atashkhoei, Solmaz Fakhari, Eissa Bilehjani, Haleh Farzin
Pregnancy in patients with Fanconi anemia (FA) is rare. However, there are reports of successful pregnancy in Fanconi patients after bone marrow transplantation (BMT, hematopoietic stem cell transplantation). We describe the case of a term pregnant woman with FA who was treated with BMT 2 years earlier. She underwent successful delivery with cesarean section using spinal anesthesia without any complications.
2017: International Medical Case Reports Journal
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