Childhood rare diseases and the UN convention on the rights of the child

Purpose

The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic disease parameters.

Methods

Automatically quantified perimacular retinal vessel tortuosity (MONA REVA software), acquired by fundus imaging, and perifoveal retinal vessel density, acquired by optic coherence tomography angiography (OCT-A) were compared between 26 FD patients and 26 controls. Gender and FD phenotype were analyzed to the obtained retinovascular data and correlated to the Mainz severity score index (MSSI) and plasma lyso-Gb3.

Results

Automatically quantified retinal vessel tortuosity indices of FD patients were significantly lower, reflecting an increased vessel tortuosity, compared to controls (p = 0.008). Males with a classical phenotype showed significantly lower retinal vessel tortuosity indices compared to males with an oligosymptomatic phenotype and females with a classical or oligosymptomatic phenotype (p < 0.001). The retinal vessel tortuosity index correlated significantly with systemic disease severity parameters [global MSSI (r = − 0.5; p < 0.01), cardiovascular MSSI (r = − 0.5; p < 0.01), lyso-Gb3 (r = − 0.6; p < 0.01)].

Conclusion

We advocate fundus imaging based automatically quantified retinal vessel tortuosity index over OCT-A imaging as it is a quick, non-invasive, easily assessable, objective and reproducible marker.

     

966. CLAVIJA DOMINGENSIS

Clavija domingensis Urb. & Ekman was one of the many Haitian endemics that were described based on collections made by the great Swedish botanist Leonard Ekman between 1924 and 1928. The species is Critically Endangered sensu IUCN (criteria c2a(i); D) and it is currently the focus of conservation initiatives in Jardin Botanique des Cayes (Haiti), Jardín Botánico Nacional Dr. Rafael M. Moscoso (Dominican Republic), and Fairchild Tropical Botanic Garden (U.S.A.). Now known from only six localities from southern Haiti, each locality only represents a single individual. The species is illustrated based on plants grown in Fairchild Tropical Botanic Garden.     

Loss of Key Riparian Plant Species Impacts Stream Ecosystem Functioning

Ecosystems - Leaf litter of alder (Alnus glutinosa) is a key resource to detrital stream food webs. Due to its high quality and palatability, it is readily colonised by microorganisms and consumed...     

Benthic macroinvertebrates of tropical streams: functional and trophic diversity of the Lacantún River,Mexico

Limnology - The differences between temperate and tropical seasonality suggest that ecological models developed for temperate streams do not necessarily apply to tropical streams. While detritus is...     

Conformational insights on the molecular recognition processes of carbohydrate molecules by proteins and enzymes: A 3D view by using NMR

This review focuses, in a non-exhaustive manner, on the essential structural and conformational features of protein–carbohydrate interactions and on some applications of NMR spectroscopy to deal with this topic from different levels of complexity.     

In vivo measurement of surface skin strain during human gait to improve the design of rehabilitation devices

Abstract

When designing any rehabilitation, sportswear or exoskeleton device the mechanical behaviour of the body segment must be known, specifically the skin, because an excessive tissue strain may lead to ulceration and bedsores. To date, it is not known if the kinematic variability between subjects have an effect on the skin strain field, and therefore, in the design and manufacturing of rehabilitation products, such as orthoses. Several studies have analysed the skin deformation during human motion, nevertheless, the comparison between the skin strain field in different subjects during normal or pathological gait has not been reported yet. This work presents a comparison of skin strain analysis for different gait patterns to study the differences between people and, specifically, if it is possible to standardize the orthotic design between subjects with the same gait disorder. Moreover, the areas with relatively minimum strain during the ankle-foot motion are compared to improve the design of structural parts of rehabilitation devices. In this case, a validated 3D digital image correlation system has been used for this purpose combined with strain ellipse theory. The results demonstrate variations in the skin strain field between subjects with the same pathology and similarities between subjects with normal gait. However, more studies and experiments are necessaries to validate this hypothesis and also to test it between different gait pathologies.