Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease

Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined. mfERGs were recorded using a scanning laser ophthalmoscope as a stimulator and trigger device (He-Neon 632.8 nm) as well as a fundus-monitoring system (infrared 730 nm). Results: Amplitudes in the central concentric area were found to be significantly lower in patients with Best's disease than in healthy controls, while no significant differences were found for the more peripheral areas. Conclusion: SLO-mfERG is a reliable new technique for topographic mapping of retinal function under simultaneous control of fixation

Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19)

Hintergrund: Darstellung von Mutationen im ABCA4-Gen in einer Familie mit klinischem Phänotyp einer Stargardtschen Erkrankung und einer Retinitis pigmentosa. Methoden: Die klinische Untersuchung bestand in der Funduskopie, der Duchführung eines ERG, der Farbsinntestung mit dem Arden-Color-Contrast-Gerät, der FLA bei einer Patientin, einer Perimetrie und SLO-Perimetrie. Die 50 Exone des ABCA4-Gens wurden mit einer Kombination einer denaturierenden HPLC und mittels SSCP analysiert. Ergebnisse: Patientin I/1, die Mutter eines ebenfalls betroffenen Sohnes (II/2) imponierte mit den typischen Zeichen einer Stargardtschen Erkrankung, wohingegen ihr Sohn (II/2) morphologisch, wie funktionell die klassischen Zeichen für das Vorliegen einer Retinitis pigmentosa aufwies. Bei Patientin I/1 fand sich molekulargenetisch eine Missense-Mutation im Exon 42 (G5882G > A) sowie eine Leserasterverschiebung im Exon 43 (5917delG), welche zu einem Stopp in der Proteintranslation führt. Bei dem Patienten II/2 fand sich diese Stop-Codon-Mutation im Exon 43 in homozygotem Zustand. Schlussfolgerungen: Unterschiedliche Mutationen im ABCA4-Gen (STGD1) können in ein und derselben Familie zu unterschiedlichen klinischen Phänotypen führen, wobei es einerseits zur Manifestation eines typischen Morbus Stargardt und andererseits zum Phänotyp einer autosomal rezessiven Retinitis pigmentosa kommen kann (RP19)

Genetics and prognostication in splenic marginal zone lymphoma: revelations from deep sequencing

PURPOSE: Mounting evidence supports the clinical significance of gene mutations and immunogenetic features in common mature B-cell malignancies.EXPERIMENTAL DESIGN: We undertook a detailed characterization of the genetic background of splenic marginal zone lymphoma (SMZL), using targeted re-sequencing and explored potential clinical implications in a multinational cohort of 175 SMZL patients.RESULTS: We identified recurrent mutations in TP53 (16%), KLF2 (12%), NOTCH2 (10%), TNFAIP3 (7%), MLL2 (11%), MYD88 (7%) and ARID1A (6%), all genes known to be targeted by somatic mutation in SMZL. KLF2 mutations were early, clonal events, enriched in patients with del(7q) and IGHV1-2*04 B-cell receptor immunoglobulins, and were associated with a short median time-to-first-treatment (0.12 vs. 1.11 yrs; P=0.01). In multivariate analysis mutations in NOTCH2 (HR 2.12, 95%CI 1.02-4.4, P=0.044) and 100% germline IGHV gene identity (HR 2.19, 95%CI 1.05-4.55, P=0.036) were independent markers of short time-to-first-treatment, while TP53 mutations were an independent marker of short overall survival (HR 2.36, 95% CI 1.08-5.2, P=0.03).CONCLUSIONS: We identify key associations between gene mutations and clinical outcome, demonstrating for the first time that NOTCH2 and TP53 gene mutations are independent markers of reduced treatment-free and overall survival, respectively.<br/

Primary parotid gland lymphoma: a case report

<p>Abstract</p> <p>Introduction</p> <p>Mucosa associated lymphoid tissue lymphomas are the most common lymphomas of the salivary glands. The benign lymphoepithelial lesion is also a lymphoproliferative disease that develops in the parotid gland. In the present case report, we describe one case of benign lymphoepithelial lesion with a subsequent low transformation to grade mucosa associated lymphoid tissue lymphoma appearing as a cystic mass in the parotid gland.</p> <p>Case presentation</p> <p>A 78-year-old Caucasian female smoker was referred to our clinic with a non-tender left facial swelling that had been present for approximately three years. The patient underwent resection of the left parotid gland with preservation of the left facial nerve through a preauricular incision. The pathology report was consistent with a low-grade marginal-zone B-cell non-Hodgkin lymphoma (mucosa associated lymphoid tissue lymphoma) following benign lymphoepithelial lesion of the gland.</p> <p>Conclusions</p> <p>Salivary gland mucosa associated lymphoid tissue lymphoma should be considered in the differential diagnosis of cystic or bilateral salivary gland lesions. Parotidectomy is recommended in order to treat the tumor and to ensure histological diagnosis for further follow-up planning. Radiotherapy and chemotherapy should be considered in association with surgery in disseminated forms or after removal.</p