Genetics and Dermatology or if I Were to Rewrite Cokcayne'S Inherited Abnormalities of the Skin

Since 1933 great strides have been made in an understanding of the basic mechanisms in genetic disorders of the skin. Furthermore, study of these disorders has contributed significantly to the understanding of the normal skin and in some instances to the genetics of man (Table II). The several contributions in this symposium will further document these statements. I see a bright future for genetics in dermatology and for dermatology in genetics, the two domains for which Cockayne wrote his book

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. Started by Dr Victor A. McKusick as the definitive reference Mendelian Inheritance in Man, OMIM (http://www.ncbi.nlm.nih.gov/omim/) is now distributed electronically by the National Center for Biotechnology Information, where it is integrated with the Entrez suite of databases. Derived from the biomedical literature, OMIM is written and edited at Johns Hopkins University with input from scientists and physicians around the world. Each OMIM entry has a full-text summary of a genetically determined phenotype and/or gene and has numerous links to other genetic databases such as DNA and protein sequence, PubMed references, general and locus-specific mutation databases, HUGO nomenclature, MapViewer, GeneTests, patient support groups and many others. OMIM is an easy and straightforward portal to the burgeoning information in human genetics

Surgical technique and preliminary results of endoscopic subfascial division of perforating veins

Purpose: Direct surgical ligation of incompetent perforating veins has been reported to effectively treat severe chronic venous insufficiency. It is associated, however, with significant wound complications. We evaluate our early experience with endoscopic subfascial division of the perforating veins.Methods: From August 5, 1993, to December 31, 1994, 11 legs in nine patients (five male and four female) were treated with endoscopic subfascial division of perforating veins. Nine of the 11 legs had active or recently healed venous ulcers. Mean duration of the ulcerations was 5.6 years. Standard laparoscopic equipment with two 10-mm ports was used to perform clipping and division of medial perforating veins through two small incisions made just below the knee, avoiding the area of ulcer and lipodermatosclerosis. Carbon dioxide was insufflated at a pressure of 30 mm Hg into the subfascial space to facilitate dissection, and a pneumatic thigh tourniquet was used to obtain a bloodless operating field. Concomitant removal of superficial veins was performed in eight limbs. Mean follow-up was 9.7 months (range, 2 to 13 months).Results: A mean of 4.4 perforating veins (range, 2 to 7) were divided; tourniquet time averaged 58 minutes (range, 30 to 72). Wound infection of a groin incision and superficial thrombophlebitis were early complications; each occurred in one patient. In seven legs the ulcer healed or did not recur and symptoms resolved. In three legs the ulceration improved, and in one it was unchanged.Conclusions: Endoscopic subfascial division of perforating veins seems to be a safe technique, with favorable early results obtained in a small number of patients. This preliminary experience supports further clinical trials to evaluate this technique

Challenges of open innovation: the paradox of firm investment in open-source software

Open innovation is a powerful framework encompassing the generation, capture, and employment of intellectual property at the firm level. We identify three fundamental challenges for firms in applying the concept of open innovation: finding creative ways to exploit internal innovation, incorporating external innovation into internal development, and motivating outsiders to supply an ongoing stream of external innovations. This latter challenge involves a paradox, why would firms spend money on R&D efforts if the results of these efforts are available to rival firms? To explore these challenges, we examine the activity of firms in opensource software to support their innovation strategies. Firms involved in open-source software often make investments that will be shared with real and potential rivals. We identify four strategies firms employ – pooled R&D/product development, spinouts, selling complements and attracting donated complements – and discuss how they address the three key challenges of open innovation. We conclude with suggestions for how similar strategies may apply in other industries and offer some possible avenues for future research on open innovation

CentrosomeDB: a human centrosomal proteins database

Active research on the biology of the centrosome during the past decades has allowed the identification and characterization of many centrosomal proteins. Unfortunately, the accumulated data is still dispersed among heterogeneous sources of information. Here we present centrosome:db, which intends to compile and integrate relevant information related to the human centrosome. We have compiled a set of 383 likely human centrosomal genes and recorded the associated supporting evidences. Centrosome:db offers several perspectives to study the human centrosome including evolution, function and structure. The database contains information on the orthology relationships with other species, including fungi, nematodes, arthropods, urochordates and vertebrates. Predictions of the domain organization of centrosome:db proteins are graphically represented at different sections of the database, including sets of alternative protein isoforms, interacting proteins, groups of orthologs and the homologs identified with blast. Centrosome:db also contains information related to function, gene–disease associations, SNPs and the 3D structure of proteins. Apart from important differences in the coverage of the set of centrosomal genes, our database differentiates from other similar initiatives in the way information is treated and analyzed. Centrosome:db is publicly available at http://centrosome.dacya.ucm.es

Heterogeneous network embedding enabling accurate disease association predictions.

BackgroundIt is significant to identificate complex biological mechanisms of various diseases in biomedical research. Recently, the growing generation of tremendous amount of data in genomics, epigenomics, metagenomics, proteomics, metabolomics, nutriomics, etc., has resulted in the rise of systematic biological means of exploring complex diseases. However, the disparity between the production of the multiple data and our capability of analyzing data has been broaden gradually. Furthermore, we observe that networks can represent many of the above-mentioned data, and founded on the vector representations learned by network embedding methods, entities which are in close proximity but at present do not actually possess direct links are very likely to be related, therefore they are promising candidate subjects for biological investigation.ResultsWe incorporate six public biological databases to construct a heterogeneous biological network containing three categories of entities (i.e., genes, diseases, miRNAs) and multiple types of edges (i.e., the known relationships). To tackle the inherent heterogeneity, we develop a heterogeneous network embedding model for mapping the network into a low dimensional vector space in which the relationships between entities are preserved well. And in order to assess the effectiveness of our method, we conduct gene-disease as well as miRNA-disease associations predictions, results of which show the superiority of our novel method over several state-of-the-arts. Furthermore, many associations predicted by our method are verified in the latest real-world dataset.ConclusionsWe propose a novel heterogeneous network embedding method which can adequately take advantage of the abundant contextual information and structures of heterogeneous network. Moreover, we illustrate the performance of the proposed method on directing studies in biology, which can assist in identifying new hypotheses in biological investigation

Penetration of left and right atrial wall and aortic root by an Amplatzer atrial septal occluder in a nine year old boy with Marfan syndrome: Case report

<p>Abstract</p> <p>Background</p> <p>To describe complications associated with Amplatzer septal occluders in a patient with Marfan syndrome</p> <p>Case presentation</p> <p>A nine-year-old boy with Marfan syndrome and a 22 mm atrial septal defect (ASD) was treated successfully by interventional closure of his ASD by placing a 24 mm Amplatzer septal occluder. Follow up examinations showed a good result but an increasing enlargement of aortic root, so the patient was scheduled for operation. Intraoperative findings showed a perforation of the left atrial roof and the non-coronary sinus by penetration of the occluder device as well as penetration into the right atrial wall. The occluder was resected, the ASD was closed and the aortic sinus was reconstructed using a Dacron patch.</p> <p>Conclusion</p> <p>We describe the first case of a patient with Marfan syndrome and an interventional closure of an ASD. Due to alterations of the connective tissue, as it is typical for patients with Marfan syndrome, the Amplatzer occluder probably perforated adjacent structures more easily as in non-affected individuals. Amplatzer occluders should be used with caution and follow up examinations should be performed in short intervals.</p

Aortic root replacement Risk factor analysis of a seventeen-year experience with 270 patients

AbstractBetween September 1976 and September 1993, 270 patients underwent aortic root replacement at our institution. Two hundred fifty-two patients underwent a Bentall composite graft repair and 18 patients received a cryopreserved homograft aortic root. One hundred eighty-seven patients had a Marfan aneurysm of the ascending aorta (41 with dissection) and 53 patients had an aneurysm resulting from nonspecific medial degeneration (17 with dissection). These 240 patients were considered to have annuloaortic ectasia. Thirty patients were operated on for miscellaneous lesions of the aortic root. Thirty-day mortality for the overall series of 270 patients was 4.8% (13/270). There was no 30-day mortality among 182 patients undergoing elective root replacement for annuloaortic ectasia without dissection. Thirty-six of the 270 patients having root replacement also had mitral valve operations. There was no hospital mortality for aortic root replacement in these 36 patients, but there were seven late deaths. Twenty-two replacements and four were repeat root replacements for late endocarditis. One early death and two late deaths occurred in this group. Actuarial survival for the overall group of 270 patients was 73% at 10 years. In a multivariate analysis, only poor New Year Heart Association class (III and IV), non-Marfan status, preoperative dissection, and male gender emerged as significant predictors of early or late death. Endocarditis was the most common late complication (14 of 256 hospital survivors) and was optimally treated by root replacement with a cryopreserved aortic homograft. Late problems with the part of the aorta not operated on occur with moderate frequency; careful follow-up of the distal aorta is critical to long-term survival. (J THORAC CARDIOVASC SURG 1995; 109: 536-45

Acquisition, processing and display of gated cardiac scintigrams

An improved method for non-traumatic and essentially noninvasive evaluation of left ventricular (LV) function with /sup 99m/Tc as the tracer was developed. This method combines previously used EKG gating techniques for cardiac blood pool visualization with new computerized acquisition, processing and display techniques. An Anger camera, a small computer, and a physiological synchronizer are used to acquire a sequence of eight scintigrams which span the entire cardiac cycle. Under our present protocol two twenty-minute sequences are obtained, one an LAO (50$sup 0$) projection, the other an RAO (30$sup 0$) projection. Subsequently these images are processed on-line with a digital filter to increase definition of the cardiac borders. The eight images are then displayed sequentially on a specially designed electronic monitor to give an impression of the beating heart somewhat analogous to that obtained with invasive contrast angiography. (auth