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  1. Article ; Online: Bridging the Gap in Competency Assessment During Transition from Undergraduate Medical Education to Graduate Medical Education: A Perspective Piece.

    Anees, Amna / McAlister, Elizabeth G / Garber, Adam M / Calderon, Alvin S / Butler, James / Mallin, Emily / Levine, Diane / Sanders, M Lee / Kwan, Brian / Clewing, J Marietta / Barczi, Steven / Mateja, Candice / Ismail, Nadia

    The American journal of medicine

    2023  Volume 136, Issue 9, Page(s) 941–945.e1

    MeSH term(s) Humans ; Education, Medical, Undergraduate ; Education, Medical, Graduate ; Competency-Based Education ; Clinical Competence ; Curriculum
    Language English
    Publishing date 2023-06-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80015-6
    ISSN 1555-7162 ; 1873-2178 ; 0002-9343 ; 1548-2766
    ISSN (online) 1555-7162 ; 1873-2178
    ISSN 0002-9343 ; 1548-2766
    DOI 10.1016/j.amjmed.2023.06.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Gene clusters, molecular evolution and disease: a speculation.

    Elizondo, Leah I / Jafar-Nejad, Paymaan / Clewing, J Marietta / Boerkoel, Cornelius F

    Current genomics

    2009  Volume 10, Issue 1, Page(s) 64–75

    Abstract: Traditionally eukaryotic genes are considered independently expressed under the control of their promoters and cis-regulatory domains. However, recent studies in worms, flies, mice and humans have shown that genes co-habiting a chromatin domain or " ... ...

    Abstract Traditionally eukaryotic genes are considered independently expressed under the control of their promoters and cis-regulatory domains. However, recent studies in worms, flies, mice and humans have shown that genes co-habiting a chromatin domain or "genomic neighborhood" are frequently co-expressed. Often these co-expressed genes neither constitute part of an operon nor function within the same biological pathway. The mechanisms underlying the partitioning of the genome into transcriptional genomic neighborhoods are poorly defined. However, cross-species analyses find that the linkage among the co-expressed genes of these clusters is significantly conserved and that the expression patterns of genes within clusters have coevolved with the clusters. Such selection could be mediated by chromatin interactions with the nuclear matrix and long-range remodeling of chromatin structure. In the context of human disease, we propose that dysregulation of gene expression across genomic neighborhoods will cause highly pleiotropic diseases. Candidate genomic neighborhood diseases include the nuclear laminopathies, chromosomal translocations and genomic instability disorders, imprinting disorders of errant insulator function, syndromes from impaired cohesin complex assembly, as well as diseases of global covalent histone modifications and DNA methylation. The alteration of transcriptional genomic neighborhoods provides an exciting and novel model for studying epigenetic alterations as quantitative traits in complex common human diseases.
    Language English
    Publishing date 2009-08-31
    Publishing country United Arab Emirates
    Document type Journal Article
    ZDB-ID 2033677-9
    ISSN 1875-5488 ; 1389-2029
    ISSN (online) 1875-5488
    ISSN 1389-2029
    DOI 10.2174/138920209787581271
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Schimke versus non-Schimke chronic kidney disease: an anthropometric approach.

    Lücke, Thomas / Franke, Doris / Clewing, J Marietta / Boerkoel, Cornelius F / Ehrich, Jochen H H / Das, Anibh M / Zivicnjak, Miroslav

    Pediatrics

    2006  Volume 118, Issue 2, Page(s) e400–7

    Abstract: Schimke-immuno-osseous dysplasia is a rare autosomal-recessive multisystem disorder with the main clinical features of disproportionate growth deficiency, defective cellular immunity, and progressive renal disease. It is caused by mutations of SMARCAL1, ... ...

    Abstract Schimke-immuno-osseous dysplasia is a rare autosomal-recessive multisystem disorder with the main clinical features of disproportionate growth deficiency, defective cellular immunity, and progressive renal disease. It is caused by mutations of SMARCAL1, a gene encoding a putative chromatin remodeling protein of unknown function. Because a detailed description of the clinical features is an essential first step in elucidating the function of SMARCAL1, we present the first detailed anthropometric data for Schimke-immuno-osseous dysplasia patients. By comprehensive anthropometric examination (28 parameters) of 8 patients (3 females) with the typical findings of Schimke-immuno-osseous dysplasia (mean age: 14.8 years; range: 4.9-30.5 years) and 304 patients (117 females) with congenital and hereditary chronic kidney disease (mean age: 10.7 +/- 4.8 years; range: 3-21.8 years), we show that Schimke-immuno-osseous dysplasia patients differ significantly from those with other forms of chronic kidney disease. z scores were calculated with reference limits derived from 5155 healthy children (2591 females) aged 3 to 18 years. The key finding was that, in the latter group, median leg length was significantly more reduced than sitting height, whereas in Schimke-immuno-osseous dysplasia patients, the reduction of sitting height was significantly more pronounced than for leg length. Therefore, the ratio of sitting height/leg length might be a simple tool for the clinician to distinguish Schimke-immuno-osseous dysplasia from other chronic kidney disease patients. Schimke-immuno-osseous dysplasia is very likely if this ratio is < 0.83. However, other forms of chronic kidney disease have to be discussed in case of a ratio > 1.01.
    MeSH term(s) Adolescent ; Adult ; Anthropometry ; Arm/pathology ; Body Height ; Bone Diseases, Developmental/genetics ; Bone Diseases, Developmental/pathology ; Cephalometry ; Child ; Child, Preschool ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; DNA Helicases ; Disease Progression ; Dwarfism/genetics ; Dwarfism/pathology ; Female ; Glomerulosclerosis, Focal Segmental/genetics ; Glomerulosclerosis, Focal Segmental/pathology ; Glomerulosclerosis, Focal Segmental/surgery ; Humans ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/pathology ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/pathology ; Kidney Failure, Chronic/surgery ; Kidney Transplantation ; Leg/pathology ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology ; Nephrotic Syndrome/surgery ; Phenotype ; Skinfold Thickness
    Chemical Substances SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2006-08
    Publishing country United States
    Document type Comparative Study ; Journal Article
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2005-2614
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Schimke immuno-osseous dysplasia: a clinicopathological correlation.

    Clewing, J Marietta / Antalfy, Barbara C / Lücke, Thomas / Najafian, Behzad / Marwedel, Katja M / Hori, Akira / Powel, Ralph M / Do, A F Safo / Najera, Lydia / SantaCruz, Karen / Hicks, M John / Armstrong, Dawna L / Boerkoel, Corndins F

    Journal of medical genetics

    2007  Volume 44, Issue 2, Page(s) 122–130

    Abstract: Background: Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1).: Methods: ... ...

    Abstract Background: Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1).
    Methods: Analysis of detailed autopsies to correlate clinical and pathological findings in two men severely affected with SIOD.
    Results: As predicted by the clinical course, T cell deficiency in peripheral lymphoid organs, defective chondrogenesis, focal segmental glomerulosclerosis, cerebral ischaemic lesions and premature atherosclerosis were identified. Clinically unexpected findings included a paucity of B cells in the peripheral lymphoid organs, emperipolesis-like (penetration of one cell by another) abnormalities in the adenohypophysis, fatty infiltration of the cardiac right ventricular wall, pulmonary emphysema, testicular hypoplasia with atrophy and azospermia, and clustering of small cerebral vessels.
    Conclusions: A regulatory role for the SMARCAL1 protein in the proliferation of chondrocytes, lymphocytes and spermatozoa, as well as in the development or maintenance of cardiomyocytes and in vascular homoeostasis, is suggested. Additional clinical management guidelines are recommended as this study has shown that patients with SIOD may be at risk of pulmonary hypertension, combined immunodeficiency, subcortical ischaemic dementia and cardiac dysfunction.
    MeSH term(s) Adolescent ; Adult ; Atherosclerosis/pathology ; Autopsy ; Brain/pathology ; Chondrocytes/pathology ; DNA Helicases/genetics ; Fatal Outcome ; Femur/pathology ; Humans ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/pathology ; Lung/pathology ; Male ; Mutation ; Myocardium/pathology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/pathology ; Pituitary Gland/pathology ; T-Lymphocytes/immunology ; Testis/pathology
    Chemical Substances SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2007-02
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg.2006.044313
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Morimoto, Marie / Yu, Zhongxin / Stenzel, Peter / Clewing, J Marietta / Najafian, Behzad / Mayfield, Christy / Hendson, Glenda / Weinkauf, Justin G / Gormley, Andrew K / Parham, David M / Ponniah, Umakumaran / André, Jean-Luc / Asakura, Yumi / Basiratnia, Mitra / Bogdanović, Radovan / Bokenkamp, Arend / Bonneau, Dominique / Buck, Anna / Charrow, Joel /
    Cochat, Pierre / Cordeiro, Isabel / Deschenes, Georges / Fenkçi, M Semin / Frange, Pierre / Fründ, Stefan / Fryssira, Helen / Guillen-Navarro, Encarna / Keller, Kory / Kirmani, Salman / Kobelka, Christine / Lamfers, Petra / Levtchenko, Elena / Lewis, David B / Massella, Laura / McLeod, D Ross / Milford, David V / Nobili, François / Saraiva, Jorge M / Semerci, C Nur / Shoemaker, Lawrence / Stajić, Nataša / Stein, Anja / Taha, Doris / Wand, Dorothea / Zonana, Jonathan / Lücke, Thomas / Boerkoel, Cornelius F

    Orphanet journal of rare diseases

    2012  Volume 7, Page(s) 70

    Abstract: Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, ...

    Abstract Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown.
    Methods: We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients.
    Results: Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression.
    Conclusions: This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.
    MeSH term(s) Adult ; Arteriosclerosis/genetics ; Arteriosclerosis/physiopathology ; Autopsy ; Child ; Child, Preschool ; DNA Helicases/genetics ; Emphysema/genetics ; Emphysema/physiopathology ; Female ; Humans ; Immunohistochemistry ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/physiopathology ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/physiopathology ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/physiopathology ; Primary Immunodeficiency Diseases ; Pulmonary Embolism/genetics ; Pulmonary Embolism/physiopathology
    Chemical Substances SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2012-09-22
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/1750-1172-7-70
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  6. Article ; Online: Schimke immunoosseous dysplasia: suggestions of genetic diversity.

    Clewing, J Marietta / Fryssira, Helen / Goodman, David / Smithson, Sarah F / Sloan, Emily A / Lou, Shu / Huang, Yan / Choi, Kunho / Lücke, Thomas / Alpay, Harika / André, Jean-Luc / Asakura, Yumi / Biebuyck-Gouge, Nathalie / Bogdanovic, Radovan / Bonneau, Dominique / Cancrini, Caterina / Cochat, Pierre / Cockfield, Sandra / Collard, Laure /
    Cordeiro, Isabel / Cormier-Daire, Valerie / Cransberg, Karlien / Cutka, Karel / Deschenes, Georges / Ehrich, Jochen H H / Fründ, Stefan / Georgaki, Helen / Guillen-Navarro, Encarna / Hinkelmann, Barbara / Kanariou, Maria / Kasap, Belde / Kilic, Sara Sebnem / Lama, Guiliana / Lamfers, Petra / Loirat, Chantal / Majore, Silvia / Milford, David / Morin, Denis / Ozdemir, Nihal / Pontz, Bertram F / Proesmans, Willem / Psoni, Stavroula / Reichenbach, Herbert / Reif, Silke / Rusu, Cristina / Saraiva, Jorge M / Sakallioglu, Onur / Schmidt, Beate / Shoemaker, Lawrence / Sigaudy, Sabine / Smith, Graham / Sotsiou, Flora / Stajic, Natasa / Stein, Anja / Stray-Pedersen, Asbjørg / Taha, Doris / Taque, Sophie / Tizard, Jane / Tsimaratos, Michel / Wong, Newton A C S / Boerkoel, Cornelius F

    Human mutation

    2007  Volume 28, Issue 3, Page(s) 273–283

    Abstract: Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. ... ...

    Abstract Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD.
    MeSH term(s) Algorithms ; Child ; Child, Preschool ; DNA Helicases/genetics ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genetic Variation ; Humans ; Immunologic Deficiency Syndromes/genetics ; Infant ; Infant, Newborn ; Male ; Osteochondrodysplasias/genetics ; Phenotype
    Chemical Substances SMARCAL1 protein, human (EC 2.7.7.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2007-03
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.20432
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