Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

PURPOSE: To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity measurement, fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram (ERG) that incorporated the International Society for Clinical Electrophysiology of Vision standards and methodology, fundus autofluorescence (FAF) and infrared (IR), and spectral-domain optical coherence tomography (SD-OCT). Genetic findings were achieved with DNA analysis using whole exome sequencing (WES) and Sanger sequencing. RESULTS: The proband, a 9-year-old boy, presented with a condition that appeared to be congenital and stationary. The clinical presentation initially reflected incomplete congenital stationary night blindness (icCSNB) because of myopia, a decrease in visual acuity, abnormal oscillatory potentials, and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there were no clear electronegative responses. However, no disease-causing mutations in the genes underlying icCSNB were identified. Following WES analysis of family members, a homozygous splice-site mutation in intron 3 of TTLL5 (c.182-3_182-1delinsAA) was found cosegregating within the phenotype in the family. CONCLUSIONS: The distinction between icCSNB and CD phenotypes is not always straightforward in young patients. The patient was quite young, which most likely explains why the progression of the CD was not obvious. WES analysis provided prompt diagnosis for this family; thus, the use of this technique to refine the diagnosis is highlighted in this study

The HADES Tracking System

The tracking system of the dielectron spectrometer HADES at GSI Darmstadt is formed out of 24 low-mass, trapezoidal multi-layer drift chambers providing in total about 30 square meter of active area. Low multiple scattering in the in total four planes of drift chambers before and after the magnetic field is ensured by using helium-based gas mixtures and aluminum cathode and field wires. First in-beam performance results are contrasted with expectations from simulations. Emphasis is placed on the energy loss information, exploring its relevance regarding track recognition.Comment: 6 pages, 4 figures, presented at the 10th Vienna Conference on Instrumentation, Vienna, February 2004, to be published in NIM A (special issue

Production of Sigma{\pm}pi?pK+ in p+p reactions at 3.5 GeV beam energy

We study the production of Sigma^+-pi^+-pK^+ particle quartets in p+p reactions at 3.5 GeV kinetic beam energy. The data were taken with the HADES experiment at GSI. This report evaluates the contribution of resonances like Lambda(1405$, Sigma(1385)^0, Lambda(1520), Delta(1232), N^* and K^*0 to the Sigma^+- pi^-+ p K+ final state. The resulting simulation model is compared to the experimental data in several angular distributions and it shows itself as suitable to evaluate the acceptance corrections properly.Comment: 15 pages, 5 figure

Inclusive dielectron production in proton-proton collisions at 2.2 GeV beam energy

Data on inclusive dielectron production are presented for the reaction p+p at 2.2 GeV measured with the High Acceptance DiElectron Spectrometer (HADES). Our results supplement data obtained earlier in this bombarding energy regime by DLS and HADES. The comparison with the 2.09 GeV DLS data is discussed. The reconstructed e+e- distributions are confronted with simulated pair cocktails, revealing an excess yield at invariant masses around 0.5 GeV/c2. Inclusive cross sections of neutral pion and eta production are obtained

An upper limit on hypertriton production in collisions of Ar(1.76 AGeV)+KCl

A high-statistic data sample of Ar(1.76 AGeV)+KCl events recorded with HADES is used to search for a hypertriton signal. An upper production limit per centrality-triggered event of $1.04$ x $10^{-3}$ on the $3\sigma$ level is derived. Comparing this value with the number of successfully reconstructed $\Lambda$ hyperons allows to determine an upper limit on the ratio $N_{_{\Lambda}^3H}/N_{\Lambda}$, which is confronted with statistical and coalescence-type model calculations

Partial Wave Analysis of the Reaction p(3.5GeV)+p→pK+Λp(3.5 GeV)+p \to pK^+\Lambda to Search for the "ppK−ppK^-" Bound State

Employing the Bonn-Gatchina partial wave analysis framework (PWA), we have analyzed HADES data of the reaction $p(3.5GeV)+p\to pK^{+}\Lambda$. This reaction might contain information about the kaonic cluster "$ppK^-$" via its decay into $p\Lambda$. Due to interference effects in our coherent description of the data, a hypothetical $\overline{K}NN$ (or, specifically "$ppK^-$") cluster signal must not necessarily show up as a pronounced feature (e.g. a peak) in an invariant mass spectra like $p\Lambda$. Our PWA analysis includes a variety of resonant and non-resonant intermediate states and delivers a good description of our data (various angular distributions and two-hadron invariant mass spectra) without a contribution of a $\overline{K}NN$ cluster. At a confidence level of CL$_{s}$=95\% such a cluster can not contribute more than 2-12\% to the total cross section with a $pK^{+}\Lambda$ final state, which translates into a production cross-section between 0.7 $\mu b$ and 4.2 $\mu b$, respectively. The range of the upper limit depends on the assumed cluster mass, width and production process.Comment: 7 Pages, 5 Figure

Study of the quasi-free np→npπ+π−np \to np \pi^+\pi^- reaction with a deuterium beam at 1.25 GeV/nucleon

The tagged quasi-free $np \to np\pi^+\pi^-$ reaction has been studied experimentally with the High Acceptance Di-Electron Spectrometer (HADES) at GSI at a deuteron incident beam energy of 1.25 GeV/nucleon ($\sqrt s \sim$ 2.42 GeV/c for the quasi-free collision). For the first time, differential distributions for $\pi^{+}\pi^{-}$ production in $np$ collisions have been collected in the region corresponding to the large transverse momenta of the secondary particles. The invariant mass and angular distributions for the $np\rightarrow np\pi^{+}\pi^{-}$ reaction are compared with different models. This comparison confirms the dominance of the $t$-channel with $\Delta\Delta$ contribution. It also validates the changes previously introduced in the Valencia model to describe two-pion production data in other isospin channels, although some deviations are observed, especially for the $\pi^{+}\pi^{-}$ invariant mass spectrum. The extracted total cross section is also in much better agreement with this model. Our new measurement puts useful constraints for the existence of the conjectured dibaryon resonance at mass M$\sim$ 2.38 GeV and with width $\Gamma\sim$ 70 MeV

Deep sub-threshold Ξ−\Xi^- production in Ar+KCl reactions at 1.76A GeV

We report first results on a deep sub-threshold production of the doubly strange hyperon $\Xi^-$ in a heavy-ion reaction. At a beam energy of 1.76A GeV the reaction Ar+KCl was studied with the High Acceptance Di-Electron Spectrometer (HADES) at SIS18/GSI. A high-statistics and high-purity $\Lambda$ sample was collected, allowing for the investigation of the decay channel $\Xi^- \to \Lambda \pi^-$. The deduced $\Xi^-/(\Lambda+\Sigma^0)$ production ratio of $(5.6 \pm 1.2 ^{+1.8}_{-1.7})\cdot 10^{-3}$ is significantly larger than available model predictions.Comment: 4 pages, including 4 figure