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Dyskeratosis Congenita

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https://www.readbyqxmd.com/read/28805708/correlation-of-leukocyte-telomere-length-measurement-methods-in-patients-with-dyskeratosis-congenita-and-in-their-unaffected-relatives
#1
Payal P Khincha, Casey L Dagnall, Belynda Hicks, Kristine Jones, Abraham Aviv, Masayuki Kimura, Hormuzd Katki, Geraldine Aubert, Neelam Giri, Blanche P Alter, Sharon A Savage, Shahinaz M Gadalla
Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We compared TL measurements (TLMs) by the three most commonly used methods, quantitative polymerase chain reaction (qPCR), flow cytometry with fluorescence in situ hybridization (flow FISH) and Southern blot, in a cohort of patients with the telomere biology disorder dyskeratosis congenita (DC) and in their unaffected relatives (controls)...
August 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#2
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28760775/parn-modulates-y-rna-stability-3-end-formation-and-its-modification
#3
Siddharth Shukla, Roy Parker
Loss-of-function mutations in 3' -5' exoribonucleases have been implicated in hereditary human diseases. For example, PARN mutations cause a severe form of dyskeratosis congenita (DC), wherein PARN deficiency leads to human telomerase RNA instability. Since the DC phenotype in PARN patients is even more severe than loss-of-function alleles in telomerase components, we hypothesized that PARN would also be required for the stability of other RNAs. Here, we show that PARN depletion reduces the levels of abundant human Y RNAs, which might contribute to the severe phenotype of DC observed in patients...
July 31, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28757166/p53-mediates-failure-of-human-definitive-hematopoiesis-in-dyskeratosis-congenita
#4
Wilson Chun Fok, Evandro Luis de Oliveira Niero, Carissa Dege, Kirsten Ann Brenner, Christopher Michael Sturgeon, Luis Francisco Zirnberger Batista
Dyskeratosis congenita (DC) is a bone marrow failure syndrome associated with telomere dysfunction. The progression and molecular determinants of hematopoietic failure in DC remain poorly understood. Here, we use the directed differentiation of human embryonic stem cells harboring clinically relevant mutations in telomerase to understand the consequences of DC-associated mutations on the primitive and definitive hematopoietic programs. Interestingly, telomere shortening does not broadly impair hematopoiesis, as primitive hematopoiesis is not impaired in DC cells...
August 8, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28734336/exudative-vitreoretinopathy-in-dyskeratosis-congenita
#5
Maanasa Indaram, Suneet Agarwal, Yoshihiro Yonekawa
No abstract text is available yet for this article.
August 2017: Ophthalmology
https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#6
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28643950/atypical-dyskeratosis-congenita-diagnosed-using-whole-exome-sequencing
#7
Ayaka Monoi, Masahiro Sugawa, Motohiro Kato, Masafumi Seki, Kenichi Yoshida, Yuichi Shiraishi, Hirotoshi Sakaguchi, Seishi Ogawa, Junko Takita
No abstract text is available yet for this article.
June 23, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#8
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28623394/disease-specific-hematopoietic-stem-cell-transplantation-in-children-with-inherited-bone-marrow-failure-syndromes
#9
Qian Li, Changying Luo, Chengjuan Luo, Jianmin Wang, Benshang Li, Lixia Ding, Jing Chen
Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning...
August 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28572264/recommendations-for-childhood-cancer-screening-and-surveillance-in-dna-repair-disorders
#10
REVIEW
Michael F Walsh, Vivian Y Chang, Wendy K Kohlmann, Hamish S Scott, Christopher Cunniff, Franck Bourdeaut, Jan J Molenaar, Christopher C Porter, John T Sandlund, Sharon E Plon, Lisa L Wang, Sharon A Savage
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood...
June 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28538506/allogeneic-hematopoietic-cell-transplantation-for-dyskeratosis-congenita-a-report-of-3-cases
#11
Shinichi Tamura, Toshihiko Imamura, Takayo Urata, Miki Kobayashi, Mari Gen, Toshihiro Tomii, Junko Do, Shinya Osone, Hiroyuki Ishida, Hajime Hosoi, Hiroshi Kuroda
Although bone marrow failure in patients with dyskeratosis congenita (DKC) can be successfully treated with allogeneic hematopoietic cell transplantation (allo-HCT) using a reduced intensity conditioning (RIC) regimen, the outcome of nonhematological disorders in patients with DKC treated with allo-HCT using RIC has not been fully elucidated. Here, we describe the clinical course of nonhematological disorders after allo-HCT with RIC in 3 consecutive patients with DKC. Allo-HCT with RIC was feasible in all cases; however, patient 1 developed lethal pulmonary disease and patient 2 experienced progression of hepatic fibrosis...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28533057/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-for-inherited-bone-marrow-failure-syndromes-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric
#12
REVIEW
Andrew C Dietz, Sharon A Savage, Adrianna Vlachos, Parinda A Mehta, Dorine Bresters, Jakub Tolar, Carmem Bonfim, Jean Hugues Dalle, Josu de la Fuente, Roderick Skinner, Farid Boulad, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). Subsequent late effects seen in these patients arise from a combination of the underlying disease, the pre-HCT therapy, and the HCT process. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium on late effects screening and recommendations following allogeneic hematopoietic cell transplantation for immune deficiency and nonmalignant hematologic diseases held in Minneapolis, Minnesota in May 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS...
May 19, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28507545/clinical-and-molecular-heterogeneity-of-rtel1-deficiency
#13
Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Axel Karow, Nina Kathrin Serwas, Marc Hoemberg, Natalja Damatova, Detlev Schindler, Jean-Baptiste Vannier, Simon J Boulton, Ulrich Pannicke, Gudrun Göhring, Kathrin Thomay, J J Verdu-Amoros, Holger Hauch, Wilhelm Woessmann, Gabriele Escherich, Eckart Laack, Liliana Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Christine Jandrasits, Brigitte Strahm, Klaus Schwarz, Stephan R Ehl, Charlotte Niemeyer, Kaan Boztug, Marcin W Wlodarski
Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and pulmonary or liver fibrosis. In more severe cases, immune deficiency and recurring infections can add to disease severity. RTEL1 deficiency has recently been described as a major genetic etiology, but the molecular basis and clinical consequences of RTEL1-associated DC are incompletely characterized. We report our observations in a cohort of six patients: five with novel biallelic RTEL1 mutations p...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28494714/is-the-hepatic-factor-a-mirna-that-maintains-the-integrity-of-pulmonary-microvasculature-by-inhibiting-the-vascular-endothelial-growth-factor
#14
Joseph John Vettukattil
The "hepatic factor," a molecule or group of molecules present in the hepatic venous blood, essential for the prevention of the development of pulmonary arteriovenous malformations (PAVMs) and right-to-left shunting has been a conceptual enigma in the understanding of many related conditions. Patients with various forms of liver diseases including acute hepatic failure, and others with normal hepatic function like hereditary hemorrhagic telangiectasia (HHT), inflammatory and parasitic disorders, cardiogenic hepatopulmonary syndrome (cHPS) and skin disorders like Dyskeratosis congenita are all known to cause PAVMs...
May 9, 2017: Current Cardiology Reviews
https://www.readbyqxmd.com/read/28486441/bone-mineral-density-in-patients-with-inherited-bone-marrow-failure-syndromes
#15
Roopa Kanakatti Shankar, Neelam Giri, Maya B Lodish, Ninet Sinaii, James C Reynolds, Sharon A Savage, Constantine A Stratakis, Blanche P Alter
BACKGROUNDPatients with inherited bone marrow failure syndromes (IBMFS) may have several risk factors for low bone mineral density (BMD). We aimed to evaluate the prevalence of low BMD in IBMFS and determine associated risk factors.METHODSPatients with IBMFS with at least one Dual Energy X-ray absorptiometry (DXA) scan were evaluated. Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, was confirmed by syndrome-specific tests. Data were gathered on age, height and clinical history...
May 9, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28479693/telomeres-in-health-and-disease
#16
REVIEW
Shailja Chatterjee
Telomeres are repetitive ribonucleoprotein complexes present at ends of chromosomes. To synthesize this manuscript, a thorough literature search was done using PubMed, MEDLINE and Cochrane review for English-language literature and data available from the period of 2005-2016 were analyzed for manuscript writing. Telomeres help in maintaining the cellular health, inbuilt cellular mechanisms, metabolism and normal cell cycle. Telomerase is a specialized enzyme that possesses catalytic subunits - reverse transcriptase, Terc and dyskerin...
January 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28475858/systematic-computational-identification-of-variants-that-activate-exonic-and-intronic-cryptic-splice-sites
#17
Melissa Lee, Patrick Roos, Neeraj Sharma, Melis Atalar, Taylor A Evans, Matthew J Pellicore, Emily Davis, Anh-Thu N Lam, Susan E Stanley, Sara E Khalil, George M Solomon, Doug Walker, Karen S Raraigh, Briana Vecchio-Pagan, Mary Armanios, Garry R Cutting
We developed a variant-annotation method that combines sequence-based machine-learning classification with a context-dependent algorithm for selecting splice variants. Our approach is distinctive in that it compares the splice potential of a sequence bearing a variant with the splice potential of the reference sequence. After training, classification accurately identified 168 of 180 (93.3%) canonical splice sites of five genes. The combined method, CryptSplice, identified and correctly predicted the effect of 18 of 21 (86%) known splice-altering variants in CFTR, a well-studied gene whose loss-of-function variants cause cystic fibrosis (CF)...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28407835/-recurrent-pulmonary-infection-and-oral-mucosal-ulcer
#18
Fei-Mei Kuang, Lan-Lan Tang, Hui Zhang, Min Xie, Ming-Hua Yang, Liang-Chun Yang, Yan Yu, Li-Zhi Cao
An 8-year-old girl who had experienced intermittent cough and fever over a 3 year period, was admitted after experiencing a recurrence for one month. One year ago the patient experienced a recurrent oral mucosal ulcer. Physical examination showed vitiligo in the skin of the upper right back. Routine blood tests and immune function tests performed in other hospitals had shown normal results. Multiple lung CT scans showed pulmonary infection. The patient had recurrent fever and cough and persistent presence of some lesions after anti-infective therapy...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28402761/dyskeratosis-congenita
#19
Daniel A Kelmenson, Michael Hanley
A 52-year-old man presented to the pulmonary clinic with a 2-month history of cough and dyspnea on exertion. He had a history of pancytopenia, although previous evaluation, including bone marrow biopsy, had not resulted in any diagnosis of the cause. His brother had died after undergoing bone..
April 13, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28402503/poly-a-specific-ribonuclease-is-a-nuclear-ribosome-biogenesis-factor-involved-in-human-18s-rrna-maturation
#20
Christian Montellese, Nathalie Montel-Lehry, Anthony K Henras, Ulrike Kutay, Pierre-Emmanuel Gleizes, Marie-Françoise O'Donohue
The poly-A specific ribonuclease (PARN), initially characterized for its role in mRNA catabolism, supports the processing of different types of non-coding RNAs including telomerase RNA. Mutations in PARN are linked to dyskeratosis congenita and pulmonary fibrosis. Here, we show that PARN is part of the enzymatic machinery that matures the human 18S ribosomal RNA (rRNA). Consistent with its nucleolar steady-state localization, PARN is required for 40S ribosomal subunit production and co-purifies with 40S subunit precursors...
April 10, 2017: Nucleic Acids Research
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