Paranasal sinus mucocele in cystic fibrosis

The relationship between cystic fibrosis, nasal polyposis and chronic sinusitis is clearly defined. Mucoceles of the paranasal sinuses, however, are a well-described complication of chronic sinusitis in adults; but they rarely occur in the pediatric age group. We report a three-year-old who presented with epiphora and fullness at the right medial canthus. Computed tomography confirmed a right ethmoid mucocele which was surgically drained, with resolution of symptoms. Approximately 12 other cases of mucoceles have been reported in the pediatric age group. Although many of these patients had recognized cystic fibrosis, some were previously undiagnosed. Only after presentation with a mucocele, did sweat testing reveal their underlying pathology. No pediatric patients in the literature were found with mucoceles and normal sweat tests. Paranasal sinus mucoceles may be diagnostic of cystic fibrosis and may be the presenting sign in some patients.     

Evaluation of a mass dispensing exercise in a Cities Readiness Initiative setting.

PURPOSE: The effectiveness of a point of dispensing (POD) used in a mass dispensing exercise was evaluated. METHODS: Public Health-Seattle & King County (PHSKC), in conjunction with the University of Washington, conducted a functional exercise of mass dispensing plans to test the effectiveness of a POD. Specifically, the organization and maintenance of patient flow, staffing model, signage, and dissemination of public information were evaluated. A data collection application using cellular telephones was used to record time and patient flow data to evaluate patient flow. Questionnaires distributed to staff and volunteer patients at the end of the exercise obtained feedback regarding the setup, organization, and operations of the POD. RESULTS: The POD was operational for approximately 68 minutes. The majority of POD staff reported feeling comfortable with their specific job tasks and duties within 15 minutes of opening the doors to the POD to the public. Staff questionnaires also revealed a high level of self-reported confidence in their ability and in the ability of their colleagues to perform the job-specific responsibilities required of them or respond to this hypothetical event. The majority of volunteer patients found the signs helpful and easy to follow and the check-in form easy to complete. Despite efforts to provide patients with oral and written information about the medications being dispensed, only 80% indicated that they knew how to take the medication, and only 73% reported understanding the medication instructions for all the individuals for whom they picked up medication. CONCLUSION: The majority of volunteer patients and staff who participated in a functional exercise of mass dispensing plans found the POD to be effective. Time-flow analysis provided preliminary estimates of the total amount of time needed to complete the dispensing process for each head of household.     

Gastro-oesophageal reflux disease: Medical or surgical treatment? Report of an interactive workshop

Gastroesophageal reflux disease (GERD) is the most common disease of the upper gastrointestinal tract. With the introduction of proton pump inhibitors medical treatment of GERD has been significantly improved. However, the development of laparoscopic antireflux surgery resulted in an increasing interest of surgeons in this disease. An interactive meeting was organized in order to develop an agreement between gastoenterologists and surgeons regarding therapeutic decisions and this is the main topic of this paper.     

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.     

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. In the most common subtype (TD1), femurs are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were identified in both subtypes. While TD2 was accounted for by a single recurrent mutation in the tyrosine kinase 2 domain, TD1 resulted from either stop codon mutations or missense mutations in the extracellular domain of the gene. Here, we report the identification of FGFR3 mutations in 25/26 TD cases. Two novel missense mutations (Y373C and G370C) were detected in 8/26 and 1/26 TD1 cases respectively. Both mutations created cysteine residues in the juxta extramembrane domain of the receptor. Sixteen cases carried the previously reported R248C (9/26 cases), S249C (2/26 cases) or stop codon FGFR3 mutations (5/26 cases). Our results suggest that TD1 is a genetically homogeneous condition and give additional support to the view that newly created cysteine residues in the extracellular domain of the protein play a key role in the severity of the disease.      

Morphological analysis of degeneration and regeneration of syncytiotrophoblast in first trimester placental villi during organ culture

We have recently shown using dansyl-L-lysine exclusion studies that the release of human chorionic gonadotrophin (HCG) in conjunction with L- lactate dehydrogenase (LDH) from first trimester villi during organ culture is symptomatic of syncytiotrophoblast degeneration. The purpose of this study was to examine chorionic villi at the ultrastructural level in order to determine events occurring during organ culture. The tissue was sampled after 0, 24, 48 and 120 h in culture and processed for electron microscopy. In addition to confirming the previously recorded syncytial degeneration, the electron micrographs showed clearly the generation of a new syncytiotrophoblast layer. The new layer, derived from differentiating cytotrophoblast cells, was largely formed by 48 h and was maintained for at least 120 h in culture. This study demonstrates a model which provides an opportunity to study the differentiation of cytotrophoblast cells whilst they retain their anatomical relationships within the villous structure.