Abstract:
PURPOSE OF REVIEW:Dyskeratosis congenita, a rare condition characterized by mucocutaneous abnormalities and bone marrow failure, is caused by inherited defects in the telomerase complex. Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyskerin, a protein implicated in both telomerase function and ribosomal RNA processing. This review highlights recent research on dyskeratosis congenita and its relevance to other fields, including cancer and aging. RECENT FINDINGS:Newly developed animal models suggest that defects in ribosomal RNA processing contribute to the phenotype of X-linked dyskeratosis congenita. Bone marrow dysfunction may be the first manifestation of dyskeratosis congenita in children, and hTERC mutations have been detected in a subset of patients presumed to have idiopathic aplastic anemia or myelodysplastic syndrome. In vitro studies suggest that hTERC mutations associated with dyskeratosis congenita or aplastic anemia either impair the specific activity of telomerase, decrease hTERC stability, or disrupt assembly of the telomerase complex. Recent clinical reports suggest that nonmyeloablative conditioning regimens afford better outcomes in patients with dyskeratosis congenita who require hematopoietic stem cell transplantation. SUMMARY:Studies of dyskeratosis congenita have shed light on the pathobiology of aplastic anemia and other forms of bone marrow dysfunction. It seems likely that mutations in other genes involved in telomere maintenance will be linked to bone marrow failure or other human diseases. Genetic testing for occult dyskeratosis congenita may be warranted in selected patients with aplastic anemia or myelodysplastic syndrome, as this may impact the choice of therapies.
journal_name
Curr Opin Pediatrjournal_title
Current opinion in pediatricsauthors
Bessler M,Wilson DB,Mason PJdoi
10.1097/00008480-200402000-00006keywords:
subject
Has Abstractpub_date
2004-02-01 00:00:00pages
23-8issue
1eissn
1040-8703issn
1531-698Xpii
00008480-200402000-00006journal_volume
16pub_type
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32833a468e
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abstract:PURPOSE OF REVIEW:Osteogenic sarcoma, also known as osteosarcoma, is a primary malignancy of the bone in which spindle cells produce osteoid. Although rare in the general population, these tumors are the most common primary malignancies of bone and the fifth most common primary malignancy of adolescence. This paper aim...
journal_title:Current opinion in pediatrics
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abstract:PURPOSE OF REVIEW:The term 'dual diagnosis' most commonly refers to the combination of severe mental illness and substance-use disorder (SUD). It is estimated that 7-10 million people in the USA alone have at a minimum one psychiatric disorder in addition to a SUD. As many of the psychiatric illnesses implicated have t...
journal_title:Current opinion in pediatrics
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doi:10.1097/MOP.0b013e3283504fbf
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abstract:PURPOSE OF REVIEW:The delineation of syndromes carrying a predisposition to malignancy has led to great insights into the molecular biology of malignancy. Many such syndromes have cutaneous findings which can precede the development of neoplasia. Early recognition of the cutaneous stigmata of the genodermatoses with ma...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e3282495939
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abstract::Bone marrow transplantation has become well established in the treatment of malignant and nonmalignant disorders. Steady progress continues in improving survival after transplantation, but many problems remain to be solved. Relapsed disease is a major limitation, and new, more intensive preparative regimens are being ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199302000-00016
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abstract:PURPOSE OF REVIEW:The prevalence of pediatric atopic dermatitis (AD) has increased throughout the world, now ranging from 10 to 20% in developed countries. Pediatric patients with AD make up a substantial proportion of patients seen by general pediatricians, allergists, dermatologists, and other specialists. As such, t...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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journal_title:Current opinion in pediatrics
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abstract::Stachybotrys is a toxin-producing fungus that grows indoors when both water and cellulose are available. Epidemiologic evidence has demonstrated an association between acute pulmonary hemorrhage in infants and exposure to Stachybotrys and other fungi in water-damaged home environments. In recent years, advances in und...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200302000-00017
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abstract:PURPOSE OF REVIEW:A second-generation 13-valent pneumococcal conjugate vaccine (PCV13) was licensed and recommended for universal immunization of children through age 5 years in 2010. Its introduction is intended to address the residual burden of pneumococcal diseases that persists a decade after the introduction of PC...
journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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doi:10.1097/MOP.0b013e3282f19f65
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abstract::In the 7 years since the cystic fibrosis (CF) gene has been cloned, many experimental trials of population screening for CF heterozygotes have been reported. Targeting young adults near reproductive age has shown that the method in which screening is offered is a major determinant of acceptance rates: personal invitat...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199612000-00016
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32832b325a
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199508000-00017
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32835a1a5f
更新日期:2012-12-01 00:00:00
abstract::Infectious disease emergencies are those in which delays in diagnosis or treatment may lead to untoward harm. Recent developments in the field offer few new therapies, but rather emphasize familiar infections in new guises or clarify approaches to troublesome entities. An enduring concern for the legal risks implicit ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-199406000-00013
更新日期:1994-06-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/MOP.0b013e32833d95cb
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abstract:PURPOSE OF REVIEW:The obesity epidemic confronts the pediatrician every day in the office. Pediatricians should help curb the epidemic through prevention and the usual pediatric primary care tasks of screening, communication and anticipatory counseling. This review highlights findings from recent literature to guide of...
journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:10.1097/00008480-200002000-00005
更新日期:2000-02-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2010-08-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2010-08-01 00:00:00
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journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
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更新日期:2009-04-01 00:00:00
abstract::Medical informatics is both a science, which seeks to understand the information requirements of medical practice, research, and education, and an engineering discipline, which applies new technologies to help manage the explosion of data and new knowledge that confront contemporary physicians. Computerization of the ...
journal_title:Current opinion in pediatrics
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00