Recurrent tonsillitis. The role of Chlamydia and Mycoplasma.

The core tissue microflora of 40 patients who underwent tonsillectomies were examined with cultures, DNA probe tests, enzyme immunoassays, and direct immunofluorescence antibody tests for Chlamydia and Mycoplasma. We believe this is the largest and most accurate prospective study that has examined the role of Chlamydia and Mycoplasma in the core tonsil tissue of patients with recurrent or chronic tonsillitis. The data strongly indicate that, unlike acute tonsillopharyngitis, Chlamydia and Mycoplasma are not involved in recurrent or chronic tonsillitis.     

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.     

Ethical dilemmas in child and adolescent consultation psychiatry.

Ethical issues in child and adolescent psychiatry consultation arise frequently but seldom are discussed in a public setting. This case of an adolescent victim of a surgical accident illustrates many aspects of consultation psychiatry. The consult question itself, of behavior management, is not unusual, although in this case the question is complicated by the sequelae of trauma, psychosocial chaos, and the staff's angry feelings toward the patient. In addition, potential surgical wrongdoing at the referring hospital brings up the more difficult ethical questions of the consultant's responsibilities, which must be to the patient and his family, as well as to the attending and referring physicians.     

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.      

Neutrophil cytochemistry in bacterial infection.

A new cytochemical technique, sensitive to altered lysosomal membrane permeability of blood neutrophils, has been evaluated as a screening test for bacterial infection. This technique, for the lysosomal enzymes acid phosphatase and chloroacetate esterase, was compared with the neutrophil alkaline phosphatase and nitroblue tetrazolium tests. The mean score for each method was significantly higher in infected patients than in normal controls. There was, however, considerable overlap of individual scores between infected patients and ill, but uninfected, patients. This overlap limits the diagnostic value of existing cytochemical screening methods.