Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

INTRODUCTION: Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy. MATERIALS AND METHODS: Clinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome Sequencing (WES). RESULTS: A 52-year-old female patient with SPG of unknown origin was referred for a progressive visual acuity loss. Multimodal fundus imaging revealed a peculiar macular dystrophy. Given the specific association of macular dystrophy and SPG, a Kjellin syndrome was suspected and genetic testing performed. WES revealed biallelic pathogenic variants in SPG11, co-segregating with disease in the family. CONCLUSION: Careful ophthalmological examination prompted the diagnosis and guided molecular testing. This case underlines the importance of a neuro-ophthalmologic assessment in patients with SPG.

An unusual ectopic thyroid tissue location & review of literature.

Ectopic thyroid is well-known pathology for several decades. Many locations have been described. Nowadays, only three cases of skull base location have been described in literature. In our case, we reported a single case of a 39-year-old male presenting with a supra-sellar and suprachiasmatic location. He presented no clinical symptoms, no endocrine alteration on biology and no skull base invasion which make this case unique compared to actual literature. Such diagnosis should always be an exclusion diagnosis as secondary neoplastic should be first ruled out.

Inline Raman Spectroscopy and Indirect Hard Modeling for Concentration Monitoring of Dissociated Acid Species.

We propose an approach for monitoring the concentration of dissociated carboxylic acid species in dilute aqueous solution. The dissociated acid species are quantified employing inline Raman spectroscopy in combination with indirect hard modeling (IHM) and multivariate curve resolution (MCR). We introduce two different titration-based hard model (HM) calibration procedures for a single mono- or polyprotic acid in water with well-known (method A) or unknown (method B) acid dissociation constants pKa. In both methods, spectra of only one acid species in water are prepared for each acid species. These spectra are used for the construction of HMs. For method A, the HMs are calibrated with calculated ideal dissociation equilibria. For method B, we estimate pKa values by fitting ideal acid dissociation equilibria to acid peak areas that are obtained from a spectral HM. The HM in turn is constructed on the basis of MCR data. Thus, method B on the basis of IHM is independent of a priori known pKa values, but instead provides them as part of the calibration procedure. As a detailed example, we analyze itaconic acid in aqueous solution. For all acid species and water, we obtain low HM errors of < 2.87 × 10-4mol mol-1 in the cases of both methods A and B. With only four calibration samples, IHM yields more accurate results than partial least squares regression. Furthermore, we apply our approach to formic, acetic, and citric acid in water, thereby verifying its generalizability as a process analytical technology for quantitative monitoring of processes containing carboxylic acids.

Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.

Background: Posterior pole staphylomata (PSS) is an outward bulging of ocular wall, rarely reported in association with inherited retinal degenerations. Patients and methods: We report a large French family of Jewish ancestry with a peculiar form of dominant retinitis pigmentosa (RP) and posterior pole staphyloma (PPS). Eight members were clinically and genetically examined. Results: All affected members complained of night blindness from early childhood and their ERGs were extinguished in the first decade of life. Seven out of eight presented PPS on fundus examination and SD-OCT. The youngest patient did not present PPS at 11 months of age, but the signs of posterior pole bowing became evident at age 8 years. There was no association between the presence of PPS and refraction. Patients with PPS were either hyperopic or myopic, but all have a high with-the-rule astigmatism. A myopic shift was observed for all of them at follow-up. In this family, the disease segregated with the c.886A>G mutation in RHO gene. Conclusion: A PPS development was observed in initially non-myopic patients of a family with unusually severe dominant RP. The PPS concerned only the area with relatively preserved outer retinal layers (outer nuclear layer and ellipsoid zone). How the outer retina could guide choroid and scleral remodelling remains unclear.

[Child photophobia]. / Photophobie chez l'enfant.

Child photophobia. Photophobia is abnormal intolerance of light. It is a commonest complaint and a reason for ophthalmological assessment in adults. Child photophobia is less frequent and must be explored. First of all, life-threatening pathology (meningitis) should be ruled off. Then, thorough ocular examination will establish a right diagnosis. Ocular surface alterations are prominent cause of photophobia. Retinal and optic pathway diseases could also lead to light aversion. This article is a systematic review of conditions linked with photophobia in children. It also offers a panorama of clinical imaging in typical cases.

Photophobie chez l'enfant. La photophobie est une intolérance anormale de la lumière. Elle est un motif fréquent de consultation en ophtalmologie adulte. Chez l'enfant, la photophobie est loin d'être banale et doit être explorée. Après avoir écarté une pathologie neurologique menaçant le pronostic visuel (méningite), l'examen oculaire permet d'en établir la cause. Bien que les maladies de surface oculaire dominent par leur fréquence, les pathologies de la rétine et du nerf optique peuvent aussi provoquer une photophobie. Une revue systématique des causes de photophobie chez l'enfant et un panorama iconographique sont présentés dans cet article.

Multi-scale processes of beech wood disintegration and pretreatment with 1-ethyl-3-methylimidazolium acetate/water mixtures.

BACKGROUND: The valorization of biomass for chemicals and fuels requires efficient pretreatment. One effective strategy involves the pretreatment with ionic liquids which enables enzymatic saccharification of wood within a few hours under mild conditions. This pretreatment strategy is, however, limited by water and the ionic liquids are rather expensive. The scarce understanding of the involved effects, however, challenges the design of alternative pretreatment concepts. This work investigates the multi length-scale effects of pretreatment of wood in 1-ethyl-3-methylimidazolium acetate (EMIMAc) in mixtures with water using spectroscopy, X-ray and neutron scattering. RESULTS: The structure of beech wood is disintegrated in EMIMAc/water mixtures with a water content up to 8.6 wt%. Above 10.7 wt%, the pretreated wood is not disintegrated, but still much better digested enzymatically compared to native wood. In both regimes, component analysis of the solid after pretreatment shows an extraction of few percent of lignin and hemicellulose. In concentrated EMIMAc, xylan is extracted more efficiently and lignin is defunctionalized. Corresponding to the disintegration at macroscopic scale, SANS and XRD show isotropy and a loss of crystallinity in the pretreated wood, but without distinct reflections of type II cellulose. Hence, the microfibril assembly is decrystallized into rather amorphous cellulose within the cell wall. CONCLUSIONS: The molecular and structural changes elucidate the processes of wood pretreatment in EMIMAc/water mixtures. In the aqueous regime with >10.7 wt% water in EMIMAc, xyloglucan and lignin moieties are extracted, which leads to coalescence of fibrillary cellulose structures. Dilute EMIMAc/water mixtures thus resemble established aqueous pretreatment concepts. In concentrated EMIMAc, the swelling due to decrystallinization of cellulose, dissolution of cross-linking xylan, and defunctionalization of lignin releases the mechanical stress to result in macroscopic disintegration of cells. The remaining cell wall constituents of lignin and hemicellulose, however, limit a recrystallization of the solvated cellulose. These pretreatment mechanisms are beyond common pretreatment concepts and pave the way for a formulation of mechanistic requirements of pretreatment with simpler pretreatment liquors.