Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care

Cyanobacteria in Coral Reef Ecosystems: A Review

Cyanobacteria have dominated marine environments and have been reef builders on Earth for more than three million years (myr). Cyanobacteria still play an essential role in modern coral reef ecosystems by forming a major component of epiphytic, epilithic, and endolithic communities as well as of microbial mats. Cyanobacteria are grazed by reef organisms and also provide nitrogen to the coral reef ecosystems through nitrogen fixation. Recently, new unicellular cyanobacteria that express nitrogenase were found in the open ocean and in coral reef lagoons. Furthermore, cyanobacteria are important in calcification and decalcification. All limestone surfaces have a layer of boring algae in which cyanobacteria often play a dominant role. Cyanobacterial symbioses are abundant in coral reefs; the most common hosts are sponges and ascidians. Cyanobacteria use tactics beyond space occupation to inhibit coral recruitment. Cyanobacteria can also form pathogenic microbial consortia in association with other microbes on living coral tissues, causing coral tissue lysis and death, and considerable declines in coral reefs. In deep lagoons, coccoid cyanobacteria are abundant and are grazed by ciliates, heteroflagellates, and the benthic coral reef community. Cyanobacteria produce metabolites that act as attractants for some species and deterrents for some grazers of the reef communities

CNP budgets of a coral-dominated fringing reef at La Reunion, France : coupling of oceanic phosphate and groundwater nitrate

Productivity, nutrient input, nutrient uptake, and release rates were determined for a coral-dominated reef flat at La R,union, France, to assess the influence of groundwater nitrogen on carbon and nutrient budgets. Water samples were collected offshore in the ocean, at the reef crest and back reef for nutrients, picoplankton, pH, and total alkalinity. Volume transport of ocean water across the reef flat was measured using both current meters and drogues. Groundwater advected onto the reef flat and mixed with incoming ocean water. Metabolic rates for the reef community were determined to be: gross primary production = 1,000 mmol C m(-2) d(-1), community respiration = 960 mmol C m(-2) d(-1), and community calcification = 210 mmol C m(-2) d(-1). Across the reef flat, silicate behaved conservatively, there was net uptake of phosphate (0.06 mmol P m(-2) d(-1)) and net release of nitrate, ammonia, dissolved and particulate organic nitrogen (total 7.0 mmol N m(-2) d(-1)). Groundwater nitrate contributed 37% of the increase in nitrate plus ammonia. The first-order mass transfer coefficient of phosphate was 3.3 m d(-1), and for nitrate plus ammonia, 5.9 m d(-1). Gross N and P uptake from estimates of mass transfer and uptake of particles were 0.37 mmol P m(-2) d(-1) and 7.2 mmol N m(-2) d(-1), respectively giving an N:P uptake ratio of 20:1. Thus, the elevation of nitrogen across the reef flat maintains a high N:P flux, enhancing algal growth downstream of the transect. We conclude that net community production (40 mmol C m(-2) d(-1)) was sustained by net uptake of phosphate from the ocean and net uptake of new nitrogen from groundwater

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Background: Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6-8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and associated clinical data is therefore a key prerequisite for biomedical research. In this context, Genetic Biobanks are critical to developing basic, translational and clinical research on RDs. The Telethon Network of Genetic Biobanks (TNGB) is aware of the importance of biobanking as a service for patients and has started a dialogue with RD-Patient Organisations via promotion of dedicated meetings and round-tables, as well as by including their representatives on the TNGB Advisory Board. This has enabled the active involvement of POs in drafting biobank policies and procedures, including those concerning ethical issues. Here, we report on our experience with RD-Patient Organisations who have requested the services of existing biobanks belonging to TNGB and describe how these relationships were established, formalised and maintained. Results: The process of patient engagement has proven to be successful both for lay members, who increased their understanding of the complex processes of biobanking, and for professionals, who gained awareness of the needs and expectations of the people involved. This collaboration has resulted in a real interest on the part of Patient Organisations in the biobanking service, which has led to 13 written agreements designed to formalise this process. These agreements enabled the centralisation of rare genetic disease biospecimens and their related data, thus making them available to the scientific community. Conclusions: The TNGB experience has proven to be an example of good practice with regard to patient engagement in biobanking and may serve as a model of collaboration between disease-oriented Biobanks and Patient Organisations. Such collaboration serves to enhance awareness and trust and to encourage the scientific community to address research on RDs

Beaching of the tunicate Salpa thompsoni at high levels of suspended particulate matter in the Southern Ocean

A mass death event of the pelagic tunicate Salpa thompsoni, which occurred in April 2002 in the Potter Cove, near the Argentinean/German Antarctic station Jubany (62°14S 58°40W), King George Island, South Shetland Islands, is described. Salps appeared on the beach two days after very strong (> 80 km.h-1) winds were registered, which accumulated particulate material in the inner part of the cove and probably also re-suspended bottom sediments. The sharp increase in particulate matter concentrations in Potter Cove caused clogging (sensu Harbison et al. 1986) of salp mucous filtering nets and likely a combination of clogging, winds and tides caused dying salps to be washed out on the beach. Until further research, it may be postulated that particle concentrations exceeding 20 mgDW.l-1 could be considered as natural threshold concentrations for S. thompsoni in the high Antarctic coastal regions