[Eyeball trauma caused by confetti particles]. / Bulbustrauma durch Konfettipartikel.

The two presented case examples demonstrate that scleral perforation through highly accelerated, seemingly harmless confetti particles is possible. In addition to penetrating injuries that should be treated directly, contusions with serious consequential complications can also occur. A careful assessment and examination are essential to promptly provide the patient with the right treatment and to minimize complications.

[Alternative Methods of Local Therapy for Complicated Periocular Infections - Two Case Reports]. / Alternative Methoden der Lokaltherapie bei komplizierten periokulären Infektionen ­ 2 Fallberichte.

Background Wounds of the eyelid can usually be cured with common surgical measures and the use of local antibiotics. Here we present two cases to demonstrate that biological debridement and negative pressure vacuum therapy (NPWT), two second line therapies, are effective and possibly superior alternatives to conventional, antibiotic-based approaches. Methodology and Result A persistent infectious wound of the upper eyelid after surgical debridement of necrotising fasciitis and an upper eyelid abscess with multiple purulent entry points, which was refractory to a five-week antibiotic regimen, were treated with biological debridement and NPWT. The combination of these two therapies leads to an optimal outcome. Conclusion Our cases demonstrate that, in ophthalmology, uncommon methods such as biological debridement and NPWT are quite practicable and are valuable therapeutic options.

Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Joubert syndrome type B (JSB) is a developmental disorder of the nephronophthisis (NPH) complex with multiple organ involvement, including NPH, coloboma of the eye, aplasia of the cerebellar vermis, and the facultative symptoms of psychomotor retardation, polydactyly, and neonatal tachypnea. In isolated autosomal recessive NPH type 1 (NPH1), homozygous deletions have been described as causative in more than 80% of patients. Since different combinations of the extrarenal symptoms with NPH occur in JSB, a contiguous gene deletion syndrome in the NPH1 genetic region would seem a highly likely cause for JSB. We therefore examined 11 families with JSB for the presence of extended deletions at the NPH1 locus. Genomic DNA was examined using four consecutive polymerase chain reaction (PCR) markers that are deleted in NPH1 and three PCR makers flanking the NPH1 deletion. In all seven markers examined, there was no homozygous deletion detected in any of the 11 JSB families studied. Since these markers saturate the NPH1 deletion region at high density, this finding excludes the presence of large homozygous deletions of the NPH1 region in these JSB families, making it unlikely that deletions of the NPH1 region are a primary cause for JSB.

Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13.

A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers D2S1893 and D2S1888. Recently, the presence of large homozygous deletions was described in the majority of NPH patients. We constructed an integrated YAC/PAC contig of 54 markers and 30 PAC clones that encompasses this deletion and the flanking inverted duplication. Thirty-six novel sequence-tagged site markers were generated for this region of 2-3 Mb, 22 of which represent PAC ends. Ten of 18 multiplex NPH families show a homozygous deletion for 8 consecutive markers. BlastN database search and expressed sequence tag (EST) mapping led to the localization of 18 EST clones to the integrated contig, representing 11 putative transcribed sequences. Seven EST clones were localized to the NPHP1 region between D2S1893 and D2S1888. Two EST clones, zc07a11 from a human parathyroid tumor library and yy63e10 from a multiple sclerosis lesion library, are located in the deletion region. PCR amplification experiments indicate that zc07a11 represents a chimeric cDNA. Through FISH analysis the NPHP1 deletion region was localized to 2q12-q13. In summary, our study provides a high-resolution physical map of the NPHP1 region with 7 precisely localized expressed sequences, 2 of which have recently been shown to be part of a gene for NPH. These data will alleviate the identification of further genes of a homozygous gene deletion syndrome in patients with NPH and oculomotor apraxia and will be instrumental in the characterization of the molecular mechanism leading to the large homozygous deletion in this region. The data furthermore provide an important step toward the construction of a sequence-ready PAC contig of this region.