[Clinical case of the month: non-familial vitreous amyloidosis]. / Amylose vitréenne non familiale.

Vitreous amyloidosis is characterized by the presence of amyloid deposition in the vitreous cavity. It is frequently associated with dominantly inherited familial amyloidosis of the transthyretin mutation. The nonfamilial form is rare, and only a dozen of cases have been reported in the ophthalmological literature.

Development and characterization of potato-Solanum brevidens chromosomal addition/substitution lines.

Solanum brevidens is a wild diploid potato species possessing high levels of resistances to several major potato diseases. We previously developed fertile somatic hybrids between S. brevidens and the cultivated potato (Solanum tuberosum) in order to introgress disease resistances from this wild species into potato. A series of backcross progenies was developed from a hexaploid somatic hybrid A206. Using a combination of S. brevidens-specific randomly amplified polymorphic DNA (RAPD) markers and a sequential genomic in situ hybridization (GISH) and fluorescence in situ hybridization (FISH) technique, we identified all 12 S. brevidens chromosomes in the backcross progenies. Seven potato-S. brevidens monosomic chromosome addition lines (chromosomes 1, 3, 4, 5, 8, 9 and 10) and one monosomic substitution line (chromosome 6) were identified, and the remaining four S. brevidens chromosomes (2, 7, 11, and 12) were included in two other lines. These chromosomal addition/substitution stocks provide valuable tools for potato cytogenetic research, and can be used to introgress disease resistances from S. brevidens into potato.

Innovative interactive flexible docking method for multi-scale reconstruction elucidates dystrophin molecular assembly.

At present, our molecular knowledge of dystrophin, the protein encoded by the DMD gene and mutated in myopathy patients, remains limited. To get around the absence of its atomic structure, we have developed an innovative interactive docking method based on the BioSpring software in combination with Small-angle X-ray Scattering (SAXS) data. BioSpring allows interactive handling of biological macromolecules thanks to an augmented Elastic Network Model (aENM) that combines the spring network with non-bonded terms between atoms or pseudo-atoms. This approach can be used for building molecular assemblies even on a desktop or a laptop computer thanks to code optimizations including parallel computing and GPU programming. By combining atomistic and coarse-grained models, the approach significantly simplifies the set-up of multi-scale scenarios. BioSpring is remarkably efficient for the preparation of numeric simulations or for the design of biomolecular models integrating qualitative experimental data restraints. The combination of this program and SAXS allowed us to propose the first high-resolution models of the filamentous central domain of dystrophin, covering repeats 11 to 17. Low-resolution interactive docking experiments driven by a potential grid enabled us to propose how dystrophin may associate with F-actin and nNOS. This information provides an insight into medically relevant discoveries to come.

Gastroesophageal reflux disease and tympanoplasty surgical outcome: is there a relationship?

OBJECTIVE: To investigate the possible clinical relationship between gastroesophageal reflux disease and the type one tympanoplasty surgical outcomes of adults with chronic otitis media, by using a simple, cost-effective, reliable questionnaire and physical findings. METHODS: Fifty-two of 147 patients undergoing type one tympanoplasty were studied. Gastroesophageal reflux disease symptoms were evaluated using the Frequency Scale for the Symptoms of Gastroesophageal Reflux Disease questionnaire. Laryngoscopic physical findings of laryngopharyngeal reflux were evaluated using the Reflux Finding Score. A successful outcome was defined as an intact tympanic membrane. Correlations between the two assessment tool results and the patient's surgical success were calculated. RESULTS: The gastroesophageal reflux disease questionnaire score was significantly higher in patients with unsuccessful tympanic membrane closure (group one) than in patients with successful closure (group two) (p < 0.05). The Reflux Finding Score was also significantly higher in group one than group two (p < 0.05). There was a significant positive relationship between the gastroesophageal reflux disease questionnaire score and the Reflux Finding Score (p < 0.01). CONCLUSION: Gastroesophageal reflux disease may be a significant prognostic factor for tympanoplasty failure. Therefore, reflux investigation may be important during the treatment of chronic otitis media, and positive cases may need reflux treatment as well as ear disease treatment.