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https://www.readbyqxmd.com/read/29673308/allogeneic-stem-cell-transplantation-in-fanconi-anemia-and-other-inherited-bone-marrow-failure-disorders
#1
Regis Peffault de Latour
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for patients with an inherited bone marrow failure syndrome (IBMFS). However, the risk of treatment-related mortality after HSCT is relatively high, with graft-versus host disease (GvHD) accounting for most of the transplant-related deaths. IBMF syndromes are rare, and case reports and small series in the literature illustrate highly heterogeneous practices in terms of indications for HSCT-, timing-, stem cell source and conditioning regimens...
April 19, 2018: Current Drug Targets
https://www.readbyqxmd.com/read/29671012/-cystinosis-diagnosis-cystine-depleting-therapy-and-transition
#2
REVIEW
Jessica Kaufeld, Lutz T Weber, Christine Kurschat, Sima Canaan-Kuehl, Eva Brand, Jun Oh, Lars Pape
This article presents a case of cystinosis in a young man. Diagnosis of the disease and the problem of transition to adult care are described. Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome. Without treatment, the disease leads to severe health impairment. Due to the rarity of the disease, a correct diagnosis is often delayed. Without treatment, cystinosis often leads to end-stage renal failure, blindness, hypothyroidism, diabetes mellitus, and rickets...
April 18, 2018: Der Internist
https://www.readbyqxmd.com/read/29668547/trilineage-hematopoiesis-induced-by-low-dose-eltrombopag-in-a-patient-with-fanconi-anemia-can-be-used-as-a-bridge-to-hematopoietic-stem-cell-transplant
#3
Ashish Gupta, Rasmi Palassery, Howard Meyerson, Sanjay Ahuja, Yousif Matloub
Fanconi anemia (FA) is an autosomal recessive, progressive bone marrow failure disorder characterized by congenital defects and marked cancer predisposition. Hematopoietic stem cell transplant is the therapy of choice for FA patients with progressive pancytopenia. These patients receive multiple transfusions for cytopenias. Oxymetholone has been used with variable success to improve cytopenias. Eltrombopag has been shown to induce bilineage or trilineage hematopoiesis in aplastic anemia and patients with myelodysplastic marrow...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29651604/patterns-and-frequency-of-renal-abnormalities-in-fanconi-anaemia-implications-for-long-term-management
#4
Vijaya Sathyanarayana, Beth Lee, Neville B Wright, Rui Santos, Denise Bonney, Robert Wynn, Leena Patel, Kate Chandler, Ed Cheesman, Detlev Schindler, Nicholas J A Webb, Stefan Meyer
BACKGROUND: Fanconi anaemia (FA) is an inherited disease with bone marrow failure, variable congenital and developmental abnormalities, and cancer predisposition. With improved survival, non-haematological manifestations of FA become increasingly important for long-term management. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse. METHODS: We reviewed clinical course and imaging findings of FA patients with respect to renal complications in our centre over a 25-year period to formulate some practical suggestions for guidelines for management of renal problems associated with FA...
April 12, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29650274/oral-cancer-in-fanconi-anemia-review-of-121-cases
#5
REVIEW
Camila Pinheiro Furquim, Allana Pivovar, José Miguel Amenábar, Carmem Bonfim, Cassius Carvalho Torres-Pereira
Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by aplastic anemia, progressive pancytopenia, congenital anomalies, and increased risk of cancer development. After hematopoietic stem cell transplant (HSCT), patients have an estimated 500-fold increase in the risk of developing head and neck cancer compared to a non-affected, and the oral cavity is affected in one-third of cases. Thus, this study aimed to better understand the natural history of oral cavity cancer in patients affected by FA...
May 2018: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29623097/renal-effects-of-non-tenofovir-antiretroviral-therapy-in-patients-living-with-hiv
#6
REVIEW
Milena M McLaughlin, Aimee J Guerrero, Andrew Merker
A review of literature published regarding non-tenofovir antiretroviral agents causing renal adverse effects was conducted. The literature involving renal adverse effects and antiretroviral therapy is most robust with protease inhibitors, specifically atazanavir and indinavir, and includes reports of crystalluria, leukocyturia, nephritis, nephrolithiasis, nephropathy and urolithiasis. Several case reports describe potential nephropathy (including Fanconi syndrome) secondary to administration of abacavir, didanosine, lamivudine and stavudine...
2018: Drugs in Context
https://www.readbyqxmd.com/read/29621589/identification-of-rare-heterozygous-missense-mutations-in-fanca-in-esophageal-atresia-patients-using-next-generation-sequencing
#7
Yu Feng, Runsen Chen, Min Da, Bo Qian, Xuming Mo
Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex and is essential for the activation of the DNA repair pathway. The middle region (amino acids 674-1208) of FANCA is required for its interaction with FAAP20. We performed targeted sequencing of this binding region of FANCA (exons 23-36) in 40 EA/TEF patients. We also investigated the effect of the p...
April 2, 2018: Gene
https://www.readbyqxmd.com/read/29615394/nephrotoxicity-and-chinese-herbal-medicine
#8
Bo Yang, Yun Xie, Maojuan Guo, Mitchell H Rosner, Hongtao Yang, Claudio Ronco
Chinese herbal medicine has been practiced for the prevention, treatment, and cure of diseases for thousands of years. Herbal medicine involves the use of natural compounds, which have relatively complex active ingredients with varying degrees of side effects. Some of these herbal medicines are known to cause nephrotoxicity, which can be overlooked by physicians and patients due to the belief that herbal medications are innocuous. Some of the nephrotoxic components from herbs are aristolochic acids and other plant alkaloids...
April 3, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29614898/osteomalacia-renal-fanconi-syndrome-and-bone-tumor
#9
Manting Gou, Zhongshu Ma
We herein report two cases of Fanconi syndrome with refractory hypophosphatemic osteomalacia that was difficult to correct by phosphorus replacement therapy. The pathological result was a bony giant cell tumor and osteosarcoma, respectively. Interestingly, after resection of the tumors, the patient with osteosarcoma recovered completely but the patient with the bony giant cell tumor had a relapse. Although she underwent nine operations, her symptoms and laboratory tests did not improve. These findings indicate that Fanconi syndrome can result from a bone tumor...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29610453/sj%C3%A3-gren-s-syndrome-associated-with-fanconi-s-syndrome-and-osteomalacia
#10
Jorge O Gutierrez, Maria F Zurita, Luis A Zurita
BACKGROUND Sjögren's syndrome is a chronic inflammatory autoimmune disease, which is also known as sicca syndrome, due to the symptoms of dry eyes and dry mouth, and is associated with other connective tissue diseases and autoimmune diseases. Sjögren's syndrome can also be associated with renal involvement. Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular acidosis and hypophosphatemia...
April 3, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29606637/oral-epithelial-dysplasia-atypical-verrucous-lesions-and-oral-potentially-malignant-disorders-focus-on-histopathology
#11
REVIEW
Susan Müller
The term oral potentially malignant disorders (OPMDs) describes a recognizable group of mucosal diseases that have a risk of progressing to squamous cell carcinoma. Oral leukoplakia, the most common OPMD, has a 1% prevalence and reported malignant transformation rates of 2% to 5%. Other OPMDs include erythroplakia, erythroleukoplakia, submucous fibrosis, lesions of reverse smokers, and inherited genetic disorders, such as Fanconi anemia. The histopathologic assessment of OPMDs is an area of subjectivity, and oral epithelial dysplasia (OED) is fraught with both interrater variability and intrarater variability...
March 1, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29606257/-ifosphamide-nephrotoxicity
#12
Gaël Ensergueix, Alexandre Karras
Ifosfamide is a cytotoxic drug usually used in malignant sarcomas. The nephrotoxicity of this agent has been described essentially among children, revealed by renal failure and proximal tubulopathy. We recently conducted a retrospective multicentre study, describing 34 adult patients admitted for ifosfamide nephrotoxicity. More than 80% of them presented with renal failure, diagnosed up to 48 months after ifosfamide administration. A Fanconi syndrome with hypophosphoremia, hypokaliemia, glucosuria and low-molecular weight proteinuria, was present in two third of all cases...
April 2018: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29605812/targeted-mass-spectrometry-enables-robust-quantification-of-fancd2-mono-ubiquitination-in-response-to-dna-damage
#13
Jeffrey R Whiteaker, Lei Zhao, Richard G Ivey, Marilyn Sanchez-Bonilla, Heather D Moore, Regine M Schoenherr, Ping Yan, Chenwei Lin, Akiko Shimamura, Amanda G Paulovich
The Fanconi anemia pathway is an important coordinator of DNA repair pathways and is particularly relevant to repair of DNA inter-strand crosslinks. Central to the pathway is monoubiquitination of FANCD2, requiring the function of multiple proteins in an upstream Fanconi core complex. We present development and analytical characterization of a novel assay for quantification of unmodified and monoubiquitinated FANCD2 proteoforms, based on peptide immunoaffinity enrichment and targeted multiple reaction monitoring mass spectrometry (immuno-MRM)...
March 21, 2018: DNA Repair
https://www.readbyqxmd.com/read/29597073/p21-activated-kinase-1-nuclear-activity-and-its-role-during-dna-damage-repair
#14
REVIEW
Eloy Andrés Pérez-Yépez, Héctor Iván Saldívar-Cerón, Olga Villamar-Cruz, Carlos Pérez-Plasencia, Luis Enrique Arias-Romero
p21-activated kinase 1 (PAK1) is a serine/threonine kinase activated by the small GTPases Rac1 and Cdc42. It is located in the chromosome 11q13 and is amplified and/or overexpressed in several human cancer types including 25-30% of breast tumors. This enzyme plays a pivotal role in the control of a number of fundamental cellular processes by phosphorylating its downstream substrates. In addition to its role in the cytoplasm, it is well documented that PAK1 also plays crucial roles in the nucleus participating in mitotic events and gene expression through its association and/or phosphorylation of several transcription factors, transcriptional co-regulators and cell cycle-related proteins, including Aurora kinase A (AURKA), polo-like kinase 1 (PLK1), the forkhead transcription factor (FKHR), estrogen receptor α (ERα), and Snail...
March 21, 2018: DNA Repair
https://www.readbyqxmd.com/read/29594088/nephropathic-cystinosis-symptoms-treatment-and-perspectives-of-a-systemic-disease
#15
Sören Bäumner, Lutz T Weber
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cystinosis. Mostly, first symptom in infantile nephropathic cystinosis is renal Fanconi syndrome that occurs within the first year of life...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29593731/transcriptional-regulation-of-emergency-granulopoiesis-in-leukemia
#16
REVIEW
Shirin Hasan, Afsar R Naqvi, Asim Rizvi
Neutropenic conditions are prevalent in leukemia patients and are often associated with increased susceptibility to infections. In fact, emergency granulopoiesis (EG), a process regulating neutrophil homeostasis in inflammatory conditions and infections, may occur improperly in leukemic conditions, leading to reduced neutrophil counts. Unfortunately, the mechanisms central to dysfunctional EG remain understudied in both leukemia patients and leukemic mouse models. However, despite no direct studies on EG response in leukemia are reported, recently certain transcription factors (TFs) have been found to function at the crossroads of leukemia and EG...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29588287/fanconi-anemia-fancm-fncm-1-and-fancd2-fcd-2-are-required-for-maintaining-histone-methylation-levels-and-interact-with-the-histone-demethylase-lsd1-spr-5-in-caenorhabditis-elegans
#17
Hyun-Min Kim, Sara E Beese-Sims, Monica P Colaiácovo
The histone demethylase LSD1 was originally discovered as removing methyl groups from di- and monomethylated histone H3 lysine 4 (H3K4me2/1). Several studies suggest LSD1 plays roles in meiosis as well as in the epigenetic regulation of fertility given that in its absence there is evidence of a progressive accumulation of H3K4me2 and increased sterility through generations. In addition to the progressive sterility phenotype observed in the mutants, growing evidence for the importance of histone methylation in the regulation of DNA damage repair has attracted more attention to the field in recent years...
March 27, 2018: Genetics
https://www.readbyqxmd.com/read/29584588/amelioration-of-head-and-neck-radiation-induced-mucositis-and-distant-marrow-suppression-in-fanca-and-fancg-mice-by-intraoral-administration-of-gs-nitroxide-jp4-039
#18
John Willis, Michael W Epperly, Renee Fisher, Xichen Zhang, Donna Shields, Wen Hou, Hong Wang, Song Li, Peter Wipf, Kalindi Parmar, Eva Guinan, Justin Steinman, Joel S Greenberger
Squamous cell carcinomas of the head and neck are appearing with increased frequency in both marrow transplanted and non-transplanted Fanconi anemia (FA) patients. FA patients commonly display radiosensitivity of epithelial tissues, complicating effective radiotherapy. Fancd2-/- mice (C57BL/6J and 129/Sv background) demonstrate epithelial tissue sensitivity to single-fraction or fractionated irradiation to the head and neck and distant marrow suppression (abscopal effect), both ameliorated by intraoral administration of the mitochondrial-targeted antioxidant, GS-nitroxide, JP4-039...
March 27, 2018: Radiation Research
https://www.readbyqxmd.com/read/29577315/the-recq-like-helicase-hrq1-is-involved-in-dna-crosslink-repair-in-arabidopsis-in-a-common-pathway-with-the-fanconi-anemia-associated-nuclease-fan1-and-the-postreplicative-repair-atpase-rad5a
#19
Sarah Röhrig, Annika Dorn, Janina Enderle, Angelina Schindele, Natalie J Herrmann, Alexander Knoll, Holger Puchta
RecQ helicases are important caretakers of genome stability and occur in varying copy numbers in different eukaryotes. Subsets of RecQ paralogs are involved in DNA crosslink (CL) repair. The orthologs of AtRECQ2, AtRECQ3 and AtHRQ1, HsWRN, DmRECQ5 and ScHRQ1 participate in CL repair in their respective organisms, and we aimed to define the function of these helicases for plants. We obtained Arabidopsis mutants of the three RecQ helicases and determined their sensitivity against CL agents in single- and double-mutant analyses...
March 25, 2018: New Phytologist
https://www.readbyqxmd.com/read/29575761/osteomalacia-due-to-drug-induced-fanconi-syndrome
#20
Jiacai Cho, Peter P Cheung
The patient, a 70-year-old man, presented with bilateral deep knee pain and myalgia for a year. Ten years ago, he was started on adefovir 10mg daily for hepatitis B. He was also on metformin for diabetes mellitus. Examination revealed mild bilateral patellofemoral crepitus and proximal myopathy. Laboratory investigations showed a raised alkaline phosphatase of 449 U/L (40-130 U/L) and hypophosphatemia of 1.5mg/dL (2.6-4.5mg/dL). This article is protected by copyright. All rights reserved.
March 25, 2018: Arthritis & Rheumatology
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