Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.

Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.

Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.

Quality of life and unmet needs in patients with fabry disease: a qualitative study.

Background: Patients with Fabry disease (FD) consider their quality of life to be significantly affected. The majority of studies evaluate the quality of life using quantitative measures and standardised scales that offer relevant information about experience with the disease in multiple aspects. The main objective of the research was to examine in depth the quality of life and unmet needs of patients diagnosed with FD in relation to their disease and treatment.

Tigecycline Opposes Bortezomib Effect on Myeloma Cells Decreasing Mitochondrial Reactive Oxygen Species Production.

Multiple myeloma is an incurable plasma cell malignancy. Most patients end up relapsing and developing resistance to antineoplastic drugs, like bortezomib. Antibiotic tigecycline has activity against myeloma.

Differentiating Structurally Similar Fentanyl Analogs by Comparing Density Functional Theory (DFT) Calculations and Surface-Enhanced Raman Spectroscopy (SERS) Results.

Fentanyl and fentanyl analogs are the main cause of recent overdose deaths in the United States. The presence of fentanyl analogs in illicit drugs makes it difficult to estimate their potencies. This makes the detection and differentiation of fentanyl analogs critically significant.

Portable near-infrared and Raman spectroscopic devices as complementary tools for instantaneous quality control of turmeric powder.

Introduction: Process analytical technology (PAT) guidance is implemented in the quality assurance of phytocompounds to achieve the Industry 4.0 concept. Near-infrared (NIR) and Raman spectroscopies are feasible for rapid, reliable quantitative analysis through transparent packaging without removing the samples from their original containers.

A Comparative Study of Benchtop and Portable NIR and Raman Spectroscopic Methods for the Quantitative Determination of Curcuminoids in Turmeric Powder.

Turmeric consumption is continually increasing worldwide. Curcuminoids are major active constituents in turmeric and are associated with numerous health benefits. A combination of spectroscopic methods and chemometrics shows the suitability of turmeric for food quality control due to advantages such as speed, versatility, portability, and no need for sample preparation.

Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.

Rare diseases (RDs) as a whole affect a huge number of individuals although each specific condition comprises a low number of individuals. As a consequence, funds allocated to expand research to all conditions are often limited. Several initiatives have emerged to invest more resources for research in RDs, but patients express unmet needs regarding educational initiatives, awareness support, and psychosocial resources.

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.

Background: Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the first to explore the patient experience through direct questioning of the caregivers of 13 individuals with MPS VII.

Methods: This European survey, using a specifically designed questionnaire, was conducted in order to describe the pathway to diagnosis and the burden of illness of MPS VII.

Determination of drug, excipients and coating distribution in pharmaceutical tablets using NIR-CI.

The growing interest of the pharmaceutical industry in Near Infrared-Chemical Imaging (NIR-CI) is a result of its high usefulness for quality control analyses of drugs throughout their production process (particularly of its non-destructive nature and expeditious data acquisition). In this work, the concentration and distribution of the major and minor components of pharmaceutical tablets are determined and the spatial distribution from the internal and external sides has been obtained. In addition, the same NIR-CI allowed the coating thickness and its surface distribution to be quantified.

Nir-chemical imaging study of acetylsalicylic acid in commercial tablets.

Near Infrared Chemical Imaging (NIR-CI) is demonstrating an increasing interest in pharmaceutical research since it meets the challenging analytical needs of pharmaceutical quality and may serve as a versatile adjunct to conventional NIR spectroscopy in many fields. The direct analysis of samples by using hyperspectral imaging techniques, which provide a NIR spectrum in each pixel of the image, generates a big amount of information from one sample. Focusing the interest in pharmaceutical research, several chemometric algorithms are demonstrating their usefulness extracting the relevant information (i.