Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. © 1995 Wiley-Liss, Inc.     

Evaluation of Gen-Probe amplified mycobacterium tuberculosis direct test by using respiratory and nonrespiratory specimens in a tertiary care center laboratory

The performance of the Amplified Mycobacterium Tuberculosis Direct (AMTD) test (Gen-Probe Inc., San Diego, Calif.) was assessed in a large tertiary care mycobacteriology laboratory. Both acid-fast smear-positive and smear-negative respiratory and nonrespiratory clinical specimens were analyzed. From February 1998 to 4 October 2001, AMTD assays were performed on 391 respiratory specimens and 164 nonrespiratory specimens. The AMTD assay was compared to the "gold standard" of combined culture and clinical diagnosis. The overall sensitivity for all specimens, including those for which no smear result was available, was 91.2%. The overall sensitivities of the assay, including acid-fast smear-positive and -negative specimens, were 97.8 and 77.3% for respiratory and nonrespiratory specimens, respectively. The corresponding specificities for respiratory and nonrespiratory specimens were 99.1 and 98.5%, respectively. The overall specificity for all specimens was 98.9%. Positive and negative predictive values were 93.9 and 99.7% and 91.7 and 96.4% for respiratory and nonrespiratory specimens, respectively. The time saved by using the AMTD test for making a diagnosis of tuberculosis instead of using culture was 8.99 days. Inhibitors to the AMTD assay were found in 3.1% of respiratory specimens and 3.1% of nonrespiratory specimens. The assay, used in a general mycobacteriology laboratory setting, represents an important advance in improving the speed and accuracy of diagnosis in the management of patients with tuberculosis.     

Ultrastructural Pathology of Murine Cytomegalovirus Infection in Cultured Mouse Nervous System Tissue

Mouse spinal cord-ganglia cultures were innoculated with murine cytomegalo-virus 14 days after explantation. Intranuclear virus was first observed 4 days after infection. The viruses, which occurred in four forms, were observed in increasing numbers during the ensuing 4 days. Differences were noted in the relative prevalence of certain of these forms in older as compared to younger cultures. This suggests that variations in virus form are related to virus maturation. Cytoplasmic viruses were occasionally observed, but their site of origin is not certain. A variety of cytoplasmic inclusions were seen, particularly in the older cultures. It seems likely that they represent specific cell responses to the presence of the virus. They were not observed in the control cultures, even though some of the latter did show severe degenerative changes.     

Keratitis caused by Scedosporium apiospermum successfully treated with a cornea transplant and voriconazole

A case of Scedosporium apiospermum keratitis was successfully treated with oral voriconazole and penetrating keratoplasty. Voriconazole levels in the aqueous humor were 53% of the levels in plasma and exceeded the MIC for the isolate by sevenfold.     

Immunological competence in Snell-Bagg pituitary dwarf mice: Response to the contact-sensitizing agent oxazolone

Snell-Bagg pituitary dwarf mice are an autosomal recessive mutant, their dwarfism being the result of an anterior pituitary defect. A number of investigators have reported that these mice, in addition to having hormonal deficiencies, have immunological defects. Dwarf mice reject allogenic skin grafts slowly, show a reduced response to contact agents and decreased graft-vs.-host reactivity. Other investigators have suggested that these results indicate a thymus-cell-deficiency. Contrary to this conclusion, we have found that the thymuses in our dwarf mice have a normal cellular composition and the T-cell-dependent zones in the peripheral lymphoid tissues are not deficient in lymphocytes. Therefore, this investigation was undertaken to study the response of dwarf mice to the hapten, oxazolone, which produces one type of T-cell-dependent response, delayed hypersensitivity, and to compare this response to that of normal littermates in animals 15 to 90 days of age. The results of these studies indicate that the dwarf mice have the ability to develop delayed hypersensitivity, as shown by both a blastogenic response in the lymph node draining the site of sensitization (the induction phase of delayed hypersensitivity) and by a positive skin-test. The magnitudes of the blastogenic response and the skin-test reaction appear similar in dwarf and normal littermate animals, both histologically, and quantitatively. These results, which are in contrast to other studies, may be the result of the husbandry provided our colony of dwarf mice, and the immunological deficiencies that have been described previously may not be a necessary condition accompanying dwarfism in these mice.     

Häufigkeit der Hyperlipoproteinämie Typ III bei elektrophoretisch nachweisbarer breiter β-Bande

Zusammenfassung Von 4000 unausgewählten poliklinischen Patienten hatten 395 (10%) eine Hyperlipoproteinämie. 22 Patienten (5,6% der Fälle mit Vermehrungen der Serumlipide, 0,55% der Gesamtpatienten) zeigten elektrophoretisch das Bild einer breiten -Bande. In 2 Fällen (ca. 10% der Patienten, deren Seren in der Agarose-Elektrophorese keine scharfe Trennung der - und Prä--Lipoproteine ergab, 0,25% der Hyperlipoproteinämien) konnte eine Hyperlipoproteinämie Typ III gesichert werden. Bei Beschränkung der Ultrazentrifugation auf Seren mit breiter -Bande werden nicht alle Hyperlipoproteinämien des Typs III erfaßt. Andererseits ist der Anteil des Typs III bei Lipoproteinämiemustern mit unscharfer Trennung von - und Prä--Lipoproteinen (breite -Bande) verhältnismäßig gering.Herrn Prof. Dr. H. H. Bennhold zum 80. Geburtstag gewidmet.     

Internalization of extraintestinal Escherichia coli O18 strains by epithelial cells is modulated by EGF, insulin, and effectors of transmembrane signal transduction

Adhesion to and internalization into host cells is an essential step in the pathogenesis of various bacterial infections. Here we investigated the effects of growth factors on the internalization of Escherichia coli O18 strains isolated from patients with urinary tract infection (UTI) by human epithelial cells. A dramatic increase in the uptake of Escherichia coli was observed after treatment of epithelial cells with epidermal growth factor (EGF) and to a lower extent with insulin. EGF-dependent internalization can be suppressed by tyrosine kinase inhibitors suggesting an involvement of the receptor tyrosine kinases in the regulation of the endocytotic process. Inhibitors of phospholipase A2, lipoxygenase, and cyclooxygenase significantly decreased internalization of bacteria induced by EGF. Finally, the specific inhibitor of PI 3-kinases Wortmannin was shown to suppress completely the EGF-independent internalization. The data of this analysis indicate the involvement of several signaling paths in bacterial internalization of uropathogenic Escherichia coli O18 strains and contribute to the comprehension of the pathogenesis of recurrent UTI.