Bloom syndrome.

Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema.

Mitral valve prolapse and the association with cutaneous mucin infiltration: ("cardiocutaneous mucinosis").

Mitral valve prolapse is the most common disorder of the cardiac valves in people in the United States. It can present as both primary and secondary disorders, and when associated with myxomatous changes in the skin, the term cardiocutaneous mucinosis can be used to describe this entity. Patients with mitral valve prolapse may have cutaneous findings on histological analysis that may indicate its severity and complication rate.

The Merkel cell polyomavirus and its involvement in Merkel cell carcinoma.

Background: The discovery of the Merkel cell polyomavirus (MCV) in a large number of Merkel cell carcinomas (MCCs) has led to many investigations into its potential role as an oncovirus. Many studies have recently explored the differences between MCCs infected and not infected with MCV.

Objective: To review the role of MCV in MCC and its potential to influence diagnosis, prognosis, and treatment.

Trends and antibiotic susceptibility patterns of methicillin-resistant and methicillin-sensitive Staphylococcus aureus in an outpatient dermatology facility.

Objectives: To determine whether the relative proportions of methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-sensitive S aureus (MSSA) were changing or stable in an outpatient dermatology clinic and to examine the antibiotic susceptibility profiles of S aureus isolates.

Design: Retrospective observational data were collected from skin culture isolates annually between January 1, 2005, and December 31, 2010, and monthly during the 6-month period of January 1, 2011, to June 30, 2011.

Setting: The University of Miami Hospital outpatient dermatology clinic.

Management of ungual warts.

Warts are the most common nail tumor generally caused by human papilloma virus (HPV) 1, 2, 4, 27, and 57. HPV 16 and 18 are associated with malignant transformation to squamous cell carcinoma, while HPV 2 and 7 are associated with "butcher's warts." Current treatments range from topical and intralesional therapies to systemic agents and surgical procedures.

Adenopathy and Extensive Skin Patch Overlying a Plasmacytoma (AESOP) Syndrome.

Adenopathy and extensive skin patch overlying a plasmacytoma is a very rare syndrome featuring a red-to-brown, violaceous skin patch along with a plasmacytoma. Only 11 case reports exist in the literature. Skin biopsies from the cutaneous patch overlying the plasmacytoma exhibit a dermal vascular hyperplasia with increased surrounding dermal mucin.

The mammalian gene function resource: the International Knockout Mouse Consortium.

In 2007, the International Knockout Mouse Consortium (IKMC) made the ambitious promise to generate mutations in virtually every protein-coding gene of the mouse genome in a concerted worldwide action. Now, 5 years later, the IKMC members have developed high-throughput gene trapping and, in particular, gene-targeting pipelines and generated more than 17,400 mutant murine embryonic stem (ES) cell clones and more than 1,700 mutant mouse strains, most of them conditional. A common IKMC web portal (www.

The pulsed dye laser for the treatment of basal cell carcinoma.

Basal cell carcinomas (BCC) have a specialized microvasculature system that can be targeted by the 585-nm pulsed dye laser (PDL) utilizing the theory of selective photothermolysis. Seven volunteers with nine well-defined, biopsy-proven BCCs, were treated with the PDL (585-nm wavelength, a single 450-μs pulse, 7-mm spot size, and 9.0 J/cm(2) energy).

Genomic analysis of the phenylacetyl-CoA pathway in Burkholderia xenovorans LB400.

The phenylacetyl-CoA (Paa) catabolic pathway and genome-wide gene expression responses to phenylacetate catabolism were studied in the polychlorinated biphenyl (PCB)-degrading strain Burkholderia xenovorans LB400. Microarray and RT-qPCR analyses identified three non-contiguous chromosomal clusters of genes that are predicted to encode a complete Paa pathway that were induced up to 40-fold during growth of LB400 on phenylacetate: paaGHIJKR, paaANEBDF, and paaC. Comparison of the available genome sequences revealed that this organization is unique to Burkholderiaceae.

The complete genome of Rhodococcus sp. RHA1 provides insights into a catabolic powerhouse.

Rhodococcus sp. RHA1 (RHA1) is a potent polychlorinated biphenyl-degrading soil actinomycete that catabolizes a wide range of compounds and represents a genus of considerable industrial interest. RHA1 has one of the largest bacterial genomes sequenced to date, comprising 9,702,737 bp (67% G+C) arranged in a linear chromosome and three linear plasmids.

The genome sequence of Mannheimia haemolytica A1: insights into virulence, natural competence, and Pasteurellaceae phylogeny.

The draft genome sequence of Mannheimia haemolytica A1, the causative agent of bovine respiratory disease complex (BRDC), is presented. Strain ATCC BAA-410, isolated from the lung of a calf with BRDC, was the DNA source. The annotated genome includes 2,839 coding sequences, 1,966 of which were assigned a function and 436 of which are unique to M.

Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae.

Rickettsia typhi, the causative agent of murine typhus, is an obligate intracellular bacterium with a life cycle involving both vertebrate and invertebrate hosts. Here we present the complete genome sequence of R. typhi (1,111,496 bp) and compare it to the two published rickettsial genome sequences: R.

Comparison of the genome of the oral pathogen Treponema denticola with other spirochete genomes.

We present the complete 2,843,201-bp genome sequence of Treponema denticola (ATCC 35405) an oral spirochete associated with periodontal disease. Analysis of the T. denticola genome reveals factors mediating coaggregation, cell signaling, stress protection, and other competitive and cooperative measures, consistent with its pathogenic nature and lifestyle within the mixed-species environment of subgingival dental plaque.

Genome sequence of the Brown Norway rat yields insights into mammalian evolution.

The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine and drug development, having made inestimable contributions to human health. We report here the genome sequence of the Brown Norway (BN) rat strain. The sequence represents a high-quality 'draft' covering over 90% of the genome.