Improving organisation to improve care: ERN ReCONNET organisational reference model for systemic sclerosis patients' care pathway.

Objective: To optimise the organisation of care and encourage the adoption of good clinical practices, the RarERN Path methodology was designed within ERN ReCONNET. The aim of our work was to report the application of RarERN Path on systemic sclerosis within the ERN ReCONNET centres, providing a feasible and flexible organisational reference model for optimising the systemic sclerosis care pathway in different countries.

Methods: RarERN Path is a six-phase methodology which enables the creation of a reference organisational model co-designed on the basis of the expertise of different stakeholders.

COMPARISON OF SUBCUTANEOUS ALFAXALONE AND SUBCUTANEOUS ALFAXALONE-DEXMEDETOMIDINE FOR SEDATION IN THE HOUSTON TOAD ().

The Houston toad (), a primarily terrestrial amphibian of south-central Texas, has been listed as federally endangered since 1970. Sedation is an important tool for obtaining diagnostics and providing treatment in this species. This prospective, randomized, and blinded study compared the sedative effects of SC alfaxalone (Protocol A) at approximately 12 mg/kg (median [range] = 12.

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.

One of the most relevant challenges for healthcare providers during the COVID- 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare diseases (RDs). The COVID-19 pandemic accelerated the healthcare sector's digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded and, many healthcare services not directly related to COVID-19 treatments shifted online remotely.

Long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases: The ERN-ReCONNET VACCINATE study.

Background: Vaccination is one of the most important measures to contain the COVID-19 pandemic, especially for frail patients. VACCINATE is a multicentre prospective observational study promoted by the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) aimed at assessing the long-term outcomes of COVID-19 vaccination in patients with rare and complex connective tissue diseases (rcCTDs) in terms of efficacy and safety.

Methods: Adult rcCTDs patients were eligible for recruitment.

Neoplasia in an assurance population of Puerto Rican crested toads ().

Disease monitoring of amphibian assurance populations is an important buffer against ongoing global extinctions. This study documents a high incidence of neoplasia in a zoo-managed assurance population of Puerto Rican crested toads (; PRCTs). Over 5 years, neoplasia was diagnosed in 17/49 (35%) submitted adult PRCTs and was the cause of death or euthanasia in 13/17 (72%).

METASTATIC MINERALIZATION IN A ZOOLOGIC COLLECTION OF SPOT-TAILED EARLESS LIZARDS (SPP.).

Vitamin and mineral supplements are commonly used in diets for zoologic and companion animals. Because specific nutrient requirements are often unknown, informed decisions are based on literature for related species. Over 18 mon beginning in November 2017, an entire population of spot-tailed earless lizards ( and ) died (N = 33).

Exploring disease perception in Behçet's syndrome: combining a quantitative and a qualitative study based on a narrative medicine approach.

Background: Behçet Syndrome (BS) has a significant psychological and social impact on patients, caregivers and families. The present study aims at exploring disease perception in BS patients, using both a co-designed survey and the narrative medicine (NM) approach.

Methods: An ad-hoc questionnaire was co-designed by clinicians expert in BS, BS patients and caregivers and BS adult patients were invited to answer the online questionnaires.

An Opportunity to Harmonise the Approach to Patients' Care Pathways for Rare and Complex Diseases: RarERN Path™.

As a matter of fact, organisation always matters when discussing about healthcare, since it is fundamental in order to ensure the delivery of the most appropriate care to patients in the most appropriate way. Unfortunately, the pandemic brought by the severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) imposed a huge reorganisation of the healthcare systems, with several repercussions on the care of several chronic conditions, that were in many cases discontinued. This was the case of rare diseases (RDs), conditions that even under normal circumstances can experience diagnostic delays and difficulties in receiving appropriate care.

State of the art and future directions in assessing the quality of life in rare and complex connective tissue and musculoskeletal diseases.

Background: As chronic conditions, rare and complex connective tissue and musculoskeletal diseases (rCTDs) significantly affect the quality of life generating an impact on the physical, psychological, social, and economic dimensions of the patients' lives, having implications on the family, changing the lifestyle and interpersonal relationships. Traditionally, generic and disease-specific measures for Quality of Life (QoL) provide valuable information to clinicians since QoL affects healthcare services utilization, predicts morbidities and mortalities, workability, etc. Moreover, the assessment of unmet clinical needs, satisfaction, the experience with the treatment and the care, the psychological dimensions, and the effects of the diseases, such as fatigue, could represent valuable dimensions to be considered in the QoL impact assessment.

The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.

In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients.

Being a caregiver of a Behçet's syndrome patient: challenges and perspectives during a complex journey.

Background: As often seen in many chronic diseases, the disease impact on patients also induces a significant impact on the quality of life (QoL) of caregivers. Caregivers are the ones who are really willing to offer care in the general approach of many aspects of the disease, including the awareness of the diseases itself, the daily management of therapy, and all the potential challenges that living with a chronic disease can include. The main objectives of the study were to explore the perspectives and views of caregivers of Behçet's syndrome (BS) patients, to study their level of awareness on the disease and the impact that BS may have on their lives by means of a survey co-designed with caregivers and patients with this purpose.

The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET.

During the COVID-19 pandemic, the need to provide high-level care for a large number of patients with COVID-19 has affected resourcing for, and limited the routine care of, all other conditions. The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). The clinical, organizational and health economic challenges faced by health-care providers, institutions, patients and their families during the SARS-CoV-2 outbreak have demonstrated the importance of ensuring continuity of care in the management of rCTDs, including adequate diagnostics and monitoring protocols, and highlighted the need for a structured emergency strategy.

RarERN Path: a methodology towards the optimisation of patients' care pathways in rare and complex diseases developed within the European Reference Networks.

Background: In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. The ERN on rare and complex connective tissue and musculoskeletal diseases (ERN ReCONNET) is one of the 24 ERNs approved that aims to improve the management of Rare and Complex Connective Tissue and Musculoskeletal Diseases.

One year in review 2020: economic and organisational aspects in rare and complex connective tissue diseases.

Rare and complex connective tissue diseases (rCTDs) encompass a considerable number of diseases and syndromes and their variability highly impacts on the clinical management, resulting in variable economic and organisational burden that might represent a challenge for healthcare systems. This paper is aimed at providing an overview of the most recent evidence regarding the economic and organisational impact of rCTDs. In particular, this work discusses the most relevant data on specific aspects related to health economics in rCTDs published in 2019.

Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider.

The unexpected outbreak of the COVID-19 disease had significant and enormous repercussions on the healthcare systems, such as the need to reorganise healthcare organisations in order to concentrate resources needed to the care of COVID-19 patients and to respond in general to this health emergency. Due to these challenges, the care of several chronic conditions was in many cases discontinued and patients and healthcare professionals treating these conditions had to cope with this new scenario. This was the case of the world rare diseases (RDs) that had to face this global emergency despite the vulnerability of people with RDs and the well-known need for high expertise required to treat and manage them.

Immune response in children with COVID-19 is characterized by lower levels of T-cell activation than infected adults.

Study of immunological features of immune response in 14 children (aged from 12 days up to 15 years) and of 10 adults who developed COVID-19 show increased number of activated CD4 and CD8 cells expressing DR and higher plasmatic levels of IL-12 and IL-1β in adults with COVID-19, but not in children. In addition, plasmatic levels of CCL5/RANTES are higher in children and adults with COVID-19, while CXCL9/MIG was only increased in adults. Higher number of activated T cells and expression of IL-12 and CXCL9 suggest prominent Th1 polarization of immune response against SARS-CoV2 in infected adults as compared with children.

Venous hematology, biochemistry, and blood gas analysis of free-ranging Eastern Copperheads (Agkistrodon contortrix) and Eastern Ratsnakes (Pantherophis alleghaniensis).

Hematology, plasma biochemistry, and blood gas analysis were performed on venous samples obtained from free-ranging Eastern Copperheads (Agkistrodon contortrix) and Eastern Ratsnakes (Pantherophis alleghaniensis) in central North Carolina during a mark-recapture study conducted from April to October 2015 at the North Carolina Zoo. Blood samples were collected from 31 (15 male and 16 female) free-ranging copperheads and 34 (20 male and 14 female) free-ranging ratsnakes at the beginning and end of restraint. Restraint was performed for morphometric measurements, sex determination, and identification via placement of intracelomic passive integrated transponder (PIT) tags and marking of ventral scutes with a handheld electrocautery unit.

Therapeutic Effect of Iron Citrate in Blocking Calcium Deposition in High Pi-Calcified VSMC: Role of Autophagy and Apoptosis.

In chronic kidney disease (CKD), the first cause of mortality is cardiovascular disease induced mainly by vascular calcification (VC). Recently, iron-based phosphate binders have been proposed in advanced CKD to treat hyperphosphatemia. We studied the effect of iron citrate (iron) on the progression of calcification in high-phosphate (Pi) calcified VSMC.

Rare diseases under different levels of economic analysis: current activities, challenges and perspectives.

Rare diseases imply clinical and economic burden as well as a significant challenge for health systems. One relevant objective of the activities planned within the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) is to address the economic dimensions of rare diseases to identify, develop and suggest strategies to improve research and patients' access to orphan drugs (ODs) and highly specialised health technologies. This paper presents a preliminary review of the existing policies on rare diseases in the countries of the Network members.

PREVALENCE OF CYSTINURIA IN SERVALS ( LEPTAILURUS SERVAL) IN THE UNITED STATES.

Cystinuria is a condition caused by defects in amino acid transport within the kidneys and small intestines. It has been reported in humans, dogs, domestic cats, ferrets, nondomestic canids, and nondomestic felids, including servals ( Leptailurus serval). Genetic mutations have been identified in dogs, humans, and domestic cats.

Intraocular pressure in American Bullfrogs (Rana catesbeiana) measured with rebound and applanation tonometry.

Objective: To measure the intraocular pressure (IOP) in normal American Bullfrogs (Rana catesbeiana) with rebound and applanation tonometry and to create calibration curves for both tonometers to determine the actual IOP of bullfrogs.

Procedures: Twenty bullfrogs were evaluated with slip-lamp biomicroscopy, indirect ophthalmoscopy, rebound tonometry, and applanation tonometry. Axial globe length and corneal thickness were measured in the three largest and the three smallest frogs with ultrasonography and optical coherence tomography, respectively.

EVALUATION OF IN-HOUSE URINE DIPSTICK, REFERENCE LABORATORY URINALYSIS, AND URINE PROTEIN: CREATININE RATIO FROM A COLONY OF CALLIMICOS (CALLIMICO GOELDII).

This study evaluated results from an in-house (IH) laboratory dipstick, a reference laboratory (RL) urinalysis, and urine protein : creatinine (UPC) ratios from callimicos ( Callimico goeldii ). Urine was collected from 25 individuals comprising a single colony under professional care in North America and compared based on laboratory, sex, age class, and presence or absence of a normal urinalysis. Urine specific gravity and pH between laboratories were statistically different.