Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

AIM: This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age, and transition to adult care. The aim is to propose a preliminary framework for consistent application. METHODS: A multicentre survey among 25 ERN-RND experts from 10 European countries examined rating scale usage in paediatric MD, categorizing MD into acute, non-progressive, and neurodegenerative types. Factors influencing scale choice and the transition to adult care practices were analysed. A comprehensive literature search was conducted to identify the earliest age of application of these scales in paediatric patients. RESULTS: The study identifies various rating scales and establishes their usage frequencies for different MDs. Experts highlighted the need for standardized scales and proposed preliminary evaluation strategies based on clinical contexts. Challenges in applying scales to young, non-cooperative patients were acknowledged. INTERPRETATION: The study recommends developing standardized rating scales for paediatric MDs to improve evaluations and data collection. It suggests potential scales for specific clinical scenarios to better evaluate disease progression. Comprehensive, patient-centred care remains crucial during the transition to adult care, despite the identified challenges. This exploratory approach aims to enhance patient outcomes and care.

Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.

This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich's ataxia (FA) patients, focusing on the Electron Transport Chain complexes I, II, and IV, the Krebs Cycle enzyme Citrate Synthase, and Coenzyme Q10 levels. It examines a cohort of 34 FA patients, comparing their mitochondrial enzyme activities and clinical parameters, including disease duration and cardiac markers, with those of 17 healthy controls. The findings reveal marked reductions in complexes II and, specifically, IV, highlighting mitochondrial impairment in FA. Additionally, elevated Neurofilament Light Chain levels and cardiomarkers were observed in FA patients. This research enhances our understanding of FA pathophysiology and suggests potential biomarkers for monitoring disease progression. The study underscores the need for further clinical trials to validate these findings, emphasizing the critical role of mitochondrial dysfunction in FA assessment and treatment.

Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

BACKGROUND: Transition from child-centered to adult-centered healthcare is a gradual process that addresses the medical, psychological, and educational needs of young people in the management of their autonomy in making decisions about their health and their future clinical assistance. This transfer is challenging across all chronic diseases but can be particularly arduous in rare neurological conditions. AIM: To describe the current practice on the transition process for young patients in centers participating in the European Reference Network for Rare Neurological Diseases (ERN-RND). METHODS: Members of the ERN-RND working group developed a questionnaire considering child-to-adult transition issues and procedures in current clinical practice. The questionnaire included 20 questions and was sent to members of the health care providers (HCPs) participating in the network. RESULTS: Twenty ERN-RND members (75% adult neurologists; 25% pediatricians; 5% nurses or study coordinators) responded to the survey, representing 10 European countries. Transition usually occurs between 16 and 18 years of age, but 55% of pediatric HCPs continue to care for their patients until they reach 40 years of age or older. In 5/20 ERN-RND centers, a standardized procedure managing transition is currently adopted, whereas in the remaining centers, the transition from youth to adult service is usually assisted by pediatricians as part of their clinical practice. CONCLUSIONS: This survey demonstrated significant variations in clinical practice between different centers within the ERN-RND network. It provided valuable data on existing transition programs and highlighted key challenges in managing transitions for patients with rare neurological disorders.

The potential of chiroptical and vibrational spectroscopy of blood plasma for the discrimination between colon cancer patients and the control group.

Colorectal cancer is one of the most abundant causes of cancer deaths in the world. At an early stage, the established clinical procedures have low reliability and sensitivity. Therefore, we tested a novel approach based on chiroptical methods such as electronic circular dichroism (ECD) and Raman optical activity (ROA). These methods are suitable for detecting slight changes in the 3D structure of chiral biomolecules, some of which may be caused by pathological processes occurring during cancer growth. Fifty-five blood plasma samples were analyzed using the combination of ECD and ROA supplemented by conventional Raman and FT-IR spectroscopy. All obtained spectra were evaluated together by linear discriminant analysis. The accuracy of sample discrimination reached 100% and the subsequent leave-one-out cross-validation resulted in 93% sensitivity and 81% specificity. The achieved results indicate that chiroptical methods supplemented by Raman and FT-IR spectroscopy might be new supporting and minimally invasive tools in the clinical diagnosis of colon cancer.

Identification of spectral biomarkers for type 1 diabetes mellitus using the combination of chiroptical and vibrational spectroscopy.

The current diagnostic tools are insufficient for the early detection of many diseases, including type 1 diabetes mellitus. The disease is accompanied not only by a permanently elevated level of blood glucose and altered levels of other biomarkers, but also by changes in the conformation of blood plasma proteins and other biomolecules associated with the pathogenesis of diabetes. However, the observation of these structural changes by conventional Raman and infrared spectroscopy is limited. Therefore, we used chiroptical spectroscopy which is inherently sensitive to the 3D structure of chiral molecules and able to detect any possible structural changes. We investigated the blood plasma samples of diabetic patients and healthy controls by Raman optical activity and electronic circular dichroism. The measurements were combined with conventional methods of molecular spectroscopy, i.e. Raman and infrared spectroscopy. The obtained data sets were statistically evaluated using linear discriminant analysis focusing on the spectral ranges that correspond to the structure and conformation of proteins and other plasmatic biomolecules. Our results suggest that chiroptical spectroscopy gives more detailed information about the 3D structure of biomolecules; and therefore, might be a promising complement to conventional diagnostic methods.

The minimizing of fluorescence background in Raman optical activity and Raman spectra of human blood plasma.

Raman optical activity (ROA) is inherently sensitive to the secondary structure of biomolecules, which makes it a method of interest for finding new approaches to clinical applications based on blood plasma analysis, for instance the diagnostics of several protein-misfolding diseases. Unfortunately, real blood plasma exhibits strong background fluorescence when excited at 532 nm; hence, measuring the ROA spectra appears to be impossible. Therefore, we established a suitable method using a combination of kinetic quenchers, filtering, photobleaching, and a mathematical correction of residual fluorescence. Our method reduced the background fluorescence approximately by 90%, which allowed speedup for each measurement by an average of 50%. In addition, the signal-to-noise ratio was significantly increased, while the baseline distortion remained low. We assume that our method is suitable for the investigation of human blood plasma by ROA and may lead to the development of a new tool for clinical diagnostics.