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At least 343 records · Page 19Linked to original sources
PubMed2003

Famous people and genetic disorders: from monarchs to geniuses--a portrait of their genetic illnesses.

Famous people with genetic disorders have always been a subject of interest because such news feeds the curiosity the public has for celebrities. It gives further insight into their lives and provides a medical basis for any unexplained or idiosyncratic feature or behavior they exhibit. It draws admiration from society of those who excel in their specialized fields despite the impositions of their genetic illnesses and also elicits sympathy even in the most casual observer. Such news certainly catapults a rare genetic disorder into the realm of public awareness. We hereby present six famous figures: King George III, Toulouse-Lautrec, Queen Victoria, Nicolo Paganini, Abraham Lincoln, and Vincent van Gogh, all of whom made a huge indelible mark in either the history of politics or that of the arts.

Art↗
PubMed2007

Molecular portrait of high productivity in recombinant NS0 cells.

Many important therapeutic proteins are produced in recombinant mammalian cells. Upon the introduction of the product gene, the isolated clones typically exhibit a wide range of productivity and high producers are subsequently selected for use in production. Using DNA microarray, two-dimensional gel electrophoresis (2DE), and iTRAQ as global surveying tools, we examined the transcriptome and proteome profiles of 11 lines of NS0 cells producing the same antibody molecule. Genes that are significantly differentially expressed between high and low producer groups statistically fall into a number of functional classes. Their distribution among the functional classes differs somewhat between transcriptomic and proteomic results. Overall, a high degree of consistency between transcriptome and proteome analysis are seen, although some genes exhibiting inconsistent trends between transcript and protein levels were observed as expected. In a novel approach, functional gene networks were retrieved using computational pathway analysis tools and their association with productivity was tested by physiological comprehension of the possible pathways involved in high recombinant protein production. Network analysis indicates that protein synthesis pathways were altered in high producers at both transcriptome and proteome levels, whereas the effect on cell growth/death pathways was more prominent only at the transcript level. The results suggest a common mechanism entailing the alteration of protein synthesis and cell growth control networks leading to high productivity. However, alternate routes with different sets of genes may be invoked to give rise to the same mechanistic outcomes. Such systematic approaches, combining transcriptomic and proteomic tools to examine high and low producers of recombinant mammalian cells will greatly enhance our capability to rationally design high producer cells. This work is a first step towards shedding a new light on the global physiological landscape of hyper productivity of recombinant cells.

Animals↗
PubMed2007

A portrait of Aristotle as an anatomist: historical article.

Aristotle is principally known as a theoretical philosopher and logician but he was also an eminent natural scientist. In particular, he should be considered probably the first anatomist in the modern sense of this term and the originator of anatomy as a special branch of knowledge. Although it seems certain that he did not perform dissections of human adult cadavers, he examined human fetal material and, above all, made systematic analysis of animal bodies. His contribution to comparative anatomy, as well as to human anatomy, was enormous. He founded the anatomical discipline on precise descriptive and scientific ground. He also coined a series of technical terms, which are still in use in the modern nomenclature. His observational skill was astounding. Although many of his physiological concepts turned out to be wrong, still his structural description of organs and body parts was often first-rank. The present study will chiefly focus on Aristotle's anatomical work and will provide only essential mention of his complex physiological and philosophical doctrine. The main purpose of this article is indeed to offer to today's anatomists a systematic account of the extraordinary achievements of this great pioneer of our discipline.

Anatomy↗
PubMed2004

Metastatic breast carcinoma confined to bone: portrait of a clinical entity.

BACKGROUND: The current study was performed to study metastatic breast carcinoma that remains confined to bone. METHODS: The medical notes of 2514 breast carcinoma patients who were treated in 2 academic units over a 20-year period were screened and patients who fulfilled the following criteria were selected: 1) clinical manifestation and imaging confirmation of bone metastases, and 2) metastatic disease remaining confined to bone for a minimum of 24 months. Available clinical and pathologic data were recorded and analyzed. The objective of the current study was to describe this clinical entity and investigate possible correlations between clinicopathologic parameters and clinical outcome. RESULTS: A total of 104 patients (4% of the total screened patient population) fulfilled the study criteria. The majority of patients were postmenopausal, with a median age of 58 years; 44 of the patients were found to have metastases at the time of presentation (M1) and 60 patients developed metastases at a median of 38 months (range, 8-160 months) after surgery for the primary tumor. Metastases remained confined to bone for a median of 50 months. Survival after the diagnosis of bony metastases was 72 months and was similar in the 2 groups (66 months vs. 78 months). Of the patients treated, 80% responded to hormonal therapy, and 76.5% responded to chemotherapy. There was no association noted between survival and tumor grade, anatomic distribution, or disease extension. CONCLUSIONS: Bone-confined metastatic breast carcinoma has an indolent clinical course that alleviates the need for vigorous follow-up and calls into question aggressive therapeutic approaches in these patients. Translational studies are warranted to map the molecular profile, leading to the development of targeted therapies in this group of patients.

Age Factors↗
PubMed2006

Pancreatic adenocarcinoma -- genetic portrait from chromosomes to microarrays.

Pancreatic adenocarcinoma is the fifth leading cause of cancer death with a 5-year survival rate of less than 5%. Although the role of a few known oncogenes and tumor suppressor genes in the development of pancreatic cancer is fairly well established, it is obvious that the majority of genetic changes responsible for the initiation and progression of this disease are still unknown. In this review, the authors will discuss the results from various genome-wide screening efforts, from traditional chromosome analyses to modern DNA microarray studies, which have provided an enormous amount of information on genetic alterations in pancreatic adenocarcinoma. Exciting findings have emerged from these studies, highlighting multiple potential chromosomal regions that may harbor novel cancer genes involved in the molecular pathogenesis of this lethal disorder. These findings complete the picture of pancreatic adenocarcinoma as a genetically highly complex and heterogeneous tumor type with an ongoing instability process. In addition, the precisely localized copy number changes offer a valuable starting point for further studies required to identify the genes involved and to characterize their potential functional role in the development and progression of pancreatic adenocarcinoma.

Adenocarcinoma↗
PubMed2001

Interaction of camel lens zeta-crystallin with quinones: portrait of a substrate by fluorescence spectroscopy.

Interaction of camel lens zeta-crystallin, an NADPH:quinone oxidoreductase, with several quinone derivatives was examined by fluorescence spectroscopy and activity measurements. Fluorescence of zeta-crystallin was quenched to different levels by the different quinones:juglone (5-OH, 1,4 naphthoquinone), 1,4 naphthoquinone (1,4-NQ), and 1,2 naphthoquinone (1,2-NQ) considerably quenched the fluorescence of zeta-crystallin, where as the commonly used substrate, 9,10-phenanthrenequinone (PQ) did not induce significant quenching. Activity measurements showed only PQ served as a substrate for camel lens zeta-crystallin, while juglone, 1,4-NQ, and 1,2-NQ were inhibitors. Thus quinones that interacted with zeta-crystallin directly inhibited the enzyme, whereas the substrate had very low affinity for the enzyme in the absence of NADPH. Another substrate, dichlorophenol indophenol (DCIP), conformed to the same pattern; DCIP did not quench the fluorescence of the enzyme significantly, but served as a substrate. This pattern is consistent with an ordered mechanism of catalysis with quinone being the second substrate. All three naphthoquinones were uncompetitive inhibitors with respect to NADPH and noncompetitive with respect to PQ. These kinetics are similar to those exhibited by cysteine- and/or lysine-modifying agents. Juglone, 1,4-NQ, and 1,2-NQ interacted with and quenched the fluorescence of camel lens alpha-crystallin, but to lesser extent than that of zeta-crystallin.

2,6-Dichloroindophenol↗
PubMed1997

Portrait of an executioner: the molecular mechanism of FAS/APO-1-induced apoptosis.

Fas/APO-1 is a member of the TNF receptor family and plays a dominant role in the immune system, down-regulating the immune response and contributing to T-cell-mediated cytotoxicity. Activation of Fas/APO-1 by either natural ligand or agonist antibody initiates apoptosis. Until recently, however, the mechanism by which Fas/APO-1 engages the cell death machinery has been an enigma. Here we describe a proposed molecular mechanism by which this cell surface death receptor signals the suicide response.

Animals↗
PubMed1995

Portrait of the 'Temple Child', a missing-link in the case of Louis XVII.

The corpse of Louis XVII was autopsied in 1795 in order to leave no doubts as to the cause of his death in a troubled revolutionary period. It was searched in 1846 for identification purposes, but the estimated age of the subject unearthed did not fit. However, a forensic facial reconstruction on the skull showed a resemblance with Louis XVII that supports the theory of a substitution plot in 1795.

Adolescent↗