Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

To investigate whether submicroscopic chromosomal deletions or duplications can be causative of unclear syndromic nephropathies, we analyzed ten patients with congenital abnormalities of the kidney and urinary tract or glomerulopathies combined with important extrarenal anomalies by whole-genome array-based comparative genomic hybridization. In a 14-year-old girl presenting with hematuria, proteinuria, mental retardation (MR), sensorineural hearing loss, dysmorphisms, and epilepsy, we detected a microdeletion in chromosome Xq22.3-q23. This deletion was verified and characterized by fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses, found to be de novo, uniallelic and 3.3 Mb in size. Electron microscopy of a kidney biopsy showed glomerular basement membrane thinning and segmental splitting of the lamina densa compatible with Alport syndrome. Cranial magnetic resonance and diffusion tensor imaging detected a severe neuronal migration disorder with double cortex formation and pronounced reduction of the fronto-occipital tract system. Thus, in one of ten patients with unclear syndromic nephropathies we identified a previously undescribed contiguous gene syndrome at Xq22.3-q23. The microdeletion contains the X-linked Alport syndrome gene COL4A5, the MR genes FACL4 and PAK3, and parts of the X-chromosomal lissencephaly gene DCX associated with double cortex formation in girls, MR, and epilepsy. The phenotype in our patient combines features of the Alport-MR contiguous gene syndrome with lissencephaly.

Intracellular persisting Staphylococcus aureus is the major pathogen in recurrent tonsillitis.

BACKGROUND: The two major indications for tonsillectomy are recurrent tonsillitis (RT) and peritonsillar abscess (PTA). Unlike PTAs, which are primarily treated surgically, RT is often cured by tonsillectomy only after a series of failed drug therapy attempts. Although the bacteriological background of RT has been studied, the reason for the lack of success of conservative therapeutic approaches is not well understood. METHODS: In a prospective study, tonsil specimens from 130 RT patients and 124 PTA patients were examined for the presence of extra- and intracellular bacteria using antibiotic protection assays. Staphylococcus aureus isolates from RT patients were characterized by pulsed-field gel electrophoresis (PFGE), spa-typing and MSCRAMM-gene-PCR. Their ability for biofilm formation was tested and their cell invasiveness was confirmed by a flow cytometric invasion assay (FACS), fluorescent in situ hybridization (FISH) and immunohistochemistry. FINDINGS: S. aureus was the predominant species (57.7%) in RT patients, whereas Streptococcus pyogenes was most prevalent (20.2%) in PTA patients. Three different assays (FACS, FISH, antibiotic protection assay) showed that nearly all RT-associated S. aureus strains were located inside tonsillar cells. Correspondingly, the results of the MSCRAMM-gene-PCRs confirmed that 87% of these S. aureus isolates were invasive strains and not mere colonizers. Based upon PFGE analyses of genomic DNA and on spa-gene typing the vast majority of the S. aureus isolates belonged to different clonal lineages. CONCLUSIONS: Our results demonstrate that intracellular residing S. aureus is the most common cause of RT and indicate that S. aureus uses this location to survive the effects of antibiotics and the host immune response. A German translation of the Abstract is provided as supplementary material (Abstract S1).

[Nasolacrimal duct obstruction caused by a cylindroma. Report of an atypical tumor manifestation and review of the literature]. / Tränennasenwegsstenose durch ein Zylindrom - Beschreibung einer ungewöhnlichen Tumormanifestation und Literaturüberblick.

BACKGROUND: The purpose of this report is to describe the clinical characteristics, management and histological findings in a patient with obstruction of the nasolacrimal duct caused by a cylindroma. About 618 lacrimal sac tumours have been reported previously in reviews and case reports, which were reviewed after searching in medline database. CASE REPORT: A 79-year old man suffered from multiple cylindromas (Spiegler tumour) on his head for about 40 years. He presented with a 6 months' history of left-sided epiphora and a painless medial canthal mass of various size. A tumour which caused nasolacrimal duct obstruction was found during dacryocystorhinostomy. After complete excision histological examination revealed a cylindroma, which had shown expansive growth from dermis to the lacrimal sac area. The patient felt well; there was no longer any epiphora or dacryocystitis after the operation. CONCLUSION: Although very rare, lacrimal sac tumours must be considered in the differential diagnosis of nasolacrimal duct obstruction. To our knowledge this case represents the first report on an atypical manifestation on a Spiegler tumour in the lacrimal sac region.