Epidermolysis bullosa: radiographic findings in 16 cases

Epidermolysis bullosa is a group of dermatologic disorders with varied inheritance patterns having the common manifestation of blister or bulla formation after minor trauma. Sixteen patients with the disease had the following radiographic manifestations: esophageal stricture (16), fecal impaction (six), vaginal stenosis (one), epithelial bridging and fusion of the digits (six), and aspiration changes in the lungs (two). Esophageal strictures involved the pharynx or cervical esophagus in eight cases and were multiple in five; they ranged in length from 2 mm to 15 cm and tended to progress over time. The findings of esophageal stricture, particularly when multiple and involving the proximal esophagus, and/or the presence of distal phalangeal atrophy with soft-tissue webbing suggest the diagnosis of epidermolysis bullosa.     

Human ORFeome Version 1.1: A Platform for Reverse Proteomics

The advent of systems biology necessitates the cloning of nearly entire sets of protein-encoding open reading frames (ORFs), or ORFeomes, to allow functional studies of the corresponding proteomes. Here, we describe the generation of a first version of the human ORFeome using a newly improved Gateway recombinational cloning approach. Using the Mammalian Gene Collection (MGC) resource as a starting point, we report the successful cloning of 8076 human ORFs, representing at least 7263 human genes, as mini-pools of PCR-amplified products. These were assembled into the human ORFeome version 1.1 (hORFeome v1.1) collection. After assessing the overall quality of this version, we describe the use of hORFeome v1.1 for heterologous protein expression in two different expression systems at proteome scale. The hORFeome v1.1 represents a central resource for the cloning of large sets of human ORFs in various settings for functional proteomics of many types, and will serve as the foundation for subsequent improved versions of the human ORFeome.     

Bilateral simultaneous tubal sextuplets: pregnancy after in-vitro fertilization--embryo transfer following salpingectomy

The presence of a damaged tube has been suggested in recent studies to have a negative effect on in-vitro fertilization (IVF) outcome. Performing bilateral salpingectomy prior to IVF to maximize pregnancy rates may also result in unnecessary surgery. This case is also an example of the occurrence of interstitial pregnancy after salpingectomy. This unusual type of ectopic pregnancy must be kept in mind when evaluating a patient suspected of a possible early abnormal gestation after assisted reproductive technolologies.