Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Author(s):  
Jiyong Wang ◽  
Aidin Foroutan ◽  
Ellen Richardson ◽  
Steven A. Skinner ◽  
Jack Reilly ◽  
...  
2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.


1965 ◽  
Vol 30 (4) ◽  
pp. 325-335
Author(s):  
George E. Lynn ◽  
Jack A. Willeford
Keyword(s):  

2001 ◽  
Vol 6 (1) ◽  
pp. 1-3
Author(s):  
Robert H. Haralson

Abstract The AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Fifth Edition, was published in November 2000 and contains major changes from its predecessor. In the Fourth Edition, all musculoskeletal evaluation and rating was described in a single chapter. In the Fifth Edition, this information has been divided into three separate chapters: Upper Extremity (13), Lower Extremity (14), and Spine (15). This article discusses changes in the spine chapter. The Models for rating spinal impairment now are called Methods. The AMA Guides, Fifth Edition, has reverted to standard terminology for spinal regions in the Diagnosis-related estimates (DRE) Method, and both it and the Range of Motion (ROM) Method now reference cervical, thoracic, and lumbar. Also, the language requiring the use of the DRE, rather than the ROM Method has been strengthened. The biggest change in the DRE Method is that evaluation should include the treatment results. Unfortunately, the Fourth Edition's philosophy regarding when and how to rate impairment using the DRE Model led to a number of problems, including the same rating of all patients with radiculopathy despite some true differences in outcomes. The term differentiator was abandoned and replaced with clinical findings. Significant changes were made in evaluation of patients with spinal cord injuries, and evaluators should become familiar with these and other changes in the Fifth Edition.


1974 ◽  
Vol 110 (3) ◽  
pp. 382-388 ◽  
Author(s):  
H. M. Doeglas

2007 ◽  
Vol 177 (4S) ◽  
pp. 486-487
Author(s):  
Paholo G. Barboglio ◽  
Brian Cohen ◽  
Angelo E. Gousse
Keyword(s):  

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.


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