124,919 research outputs found
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
No full textBackground: Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. Case presentation: We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, bifid uvula, and inguinal hernias and oculocutaneous albinism (OCA) manifesting by white hair and skin that does not tan, nystagmus, reduced iris pigment with iris translucency, and reduced retinal pigment). We identified previously reported, homozygous mutations of TYR, c.1A > G (p.Met1Val) and heterozygous, missense mutation of TGFBR1, c.1460G > A (p.Arg487Gln). Family history revealed that his mother underwent multiple surgical repairs for recurrent hemorrhage originating from the buccal artery. Molecular studies confirmed a maternally inherited low grade TGFBR1 mutation somatic mosaicism (18% in peripheral blood leukocytes, 18% in buccal cells and 10% in hair root cells). Maternal cardiac investigations revealed peculiar cardiovascular features: mild tortuosity at the aortic arch, dilatation of the proximal abdominal aorta, multiple deep left ventricular myocardial crypts, and dysplastic mitral valve. TGFBR2 germline mosaicism has been described in three fathers of children carrying TGFBR2 mutations but, to the best of our knowledge, no case of maternally inherited TGFBR1 mutation mosaicism has been reported so far. Conclusions: This case report suggests that individuals with somatic mosaicism might be at risk for mild and unusual forms of LDS but germline mosaicism can lead to full blown picture of the disease in offspring
Loeys-Dietz syndrome : a possible solution for Akhenaten's and his family's mystery syndrome
No full textAbstract: The presence of a familial disease among royal members of 18th dynasty of the new kingdom who ruled in Egypt from the mid-16th to the early 11th centuries BC has been established, largely prompted by the bizarre body shape of Akhenaten (the iconoclastic pharaoh of this dynasty) and his family, as demonstrated in statues and artwork. It had been thought previously that this was an expression of a revolutionised artistic style that followed radical reforms by Akhenaten of Egyptian society, but recent studies on mummies confirmed the presence of a constellation of corresponding pathologies. Several illnesses have been suggested to solve this enigma; we propose Loeys-Dietz syndrome as a probable diagnosis for this genetic affliction within the royal family
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
A TURKISH PATIENT OF TYPICAL LOEYS-DIETZ SYNDROME WITH A TGFBR2 MUTATION
No full textA Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation: We describe a 2-years-old male patient with skeletal, neurological, cardiovascular, and connective tissue anomalies. Skeletal anomalies included pectus excavatum, hammer toes and hallux valgus and camptodactyly. The characteristic craniofacial findings of hypertelorism, down slanting palpebral fissures, strabismus, ptosis of eyelids, bifid uvula, high-arched palate and retrognathia were present. The proband has been operated on twice for bilateral inguinal hernia and several times for his foot deformities. Psychomotor development was retarded. At present, echocardiographic findings show aortic root dilation. The patient has important characteristics of Loeys-Dietz syndrome (LDS). Direct sequencing analysis of the transforming growth factor beta receptor I and II (TGFBR1 and 2) genes was performed and was demonstrated heterozygous missense mutation of the TGFBR2 gene in the patient, which confirms the diagnosis of LDS. This is the first Turkish patient with typical clinical signs of LDS. This report also illustrates that LDS and Shprintzen-Goldberg syndrome (SGS) have some common clinical characteristics
Gastric pseudoaneurysm in the setting of Loey’s Dietz Syndrome
No full textLoey’s Dietz syndrome is a disorder of connective tissue caused by a mutation in the genes that
encode transforming growth factor (TGF) beta receptor 1 and 2.
It is an autosomal dominant
disorder similar to Marfan’s syndrome but with a more aggressive clinical course.
Patients with
Loey’s-Dietz syndrome have progressive dilatation of the aortic root that can lead to aortic
dissection and rupture. The location of non-aortic arterial aneurysms may be wide spread but often
occur in the head and neck vessels.peer-reviewe
Endovascular treatment for type B aortic dissection in a patient with Loeys-Dietz syndorome accompanied by potential lung cancer
No full text論文(Article)Loeys-Dietz syndrome is a recently recognized genetic connective tissue disorder. Aortic involvement in Loeys-Dietz syndrome is known to be more aggressive, even in young patients. Earlierand wider ranging surgical treatment is recommended because of the aggressive nature of its aortic pathology. We report the case of a 17-year-old girl diagnosed with acute type B aortic dissection accompanied by potential lung cancer. Because of rapid enlargement of the dissected aorta, urgent surgical intervention was considered to be mandatory. Considering the possible malignancy of the lung tumor, we reluctantly performed palliative thoracic endovascular aortic repair as an alternative to open surgery. However, endovascular treatment resulted in further expansion of the dissected
aorta. Additional stent graft deployment at downstream aorta was performed and the false lumen flow was decreased significantly. Postoperative computed tomographic examination showed decreased descending aortic diameter with progressive false lumen thrombosis. In patients with Loeys-Dietz syndrome, the application of endovascular therapy should be performed more carefully than expected, especially if there is a reason that open surgery would be unsuitable
Pragmatic Case Studies as a Source of Unity in Applied Psychology
No full textTo unify or not to unify applied psychology: that is the question. In this article we review pendulum swings in the historical efforts to answer this question—from a comprehensive, positivist, “top-down,” deductive yes between the 1930s and the early 60s, to a postmodern no since then. A rationale and proposal for a limited, “bottom-up,” inductive yes in applied psychology is then presented, employing a case-based paradigm that integrates both positivist and postmodern themes and components. This paradigm is labeled “pragmatic psychology” and, its specific use of case studies, the “Pragmatic Case Study Method” (“PCS Method”). We call for the creation of peer-reviewed journal-databases of pragmatic case studies as a foundational source of unifying applied knowledge in our discipline. As one example, the potential of the PCS Method for unifying different angles of theoretical regard is illustrated in an area of applied psychology, psychotherapy, via the case of Mrs. B. The article then turns to the broader historical and epistemological arguments for the unifying nature of the PCS Method in both applied and basic psychology.Peer reviewe
Unusual 8p inverted duplication deletion with telomere capture from 8q.(*First two authors contributed equally to this work)
No full textInverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR gene clusters and a terminal 8p deletion. The terminal deletions are stabilized by direct addition of telomeric repeats, so called telomere healing. Here, we report a patient with an unusual inverted duplication deletion of 8p. Stabilization of the broken chromosome end was achieved by telomere capture instead of telomere healing, resulting in an additional duplication of 8q24.13 -> qter on the short arm of chromosome 8. Moreover, the inverted duplication was only 3.4 Mb in size (restricted to band 8p22) and thus cytogenetically undetectable. To the best of our knowledge this is the smallest inverted duplication reported hitherto. We describe the molecular characterization by FISH and array CGH of this unusual inv dup del (8p) and a previously reported patient with a similar 8q duplication and review the literature on cases associated with telomere capture. (C) 2008 Elsevier Masson SAS. All rights reserved
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