Internal Consistency and Floor/Ceiling Effects of the Gross Motor Function Measure for Use with Children Affected by Cancer: A Cross-Sectional Study.

Children/adolescents with cancer can develop adverse effects impacting gross motor function. There is a lack of gross motor function assessment tools that have been validated for this population. The aim of this multicenter cross-sectional study was to preliminary validate the 88-item Gross Motor Function Measure (GMFM-88) for use in children/adolescents with cancer, exploring internal consistency and floor/ceiling effect.

A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients.

Background: A drug repositioning effort supported the possible use of the anti-HIV drug etravirine as a disease-modifying drug for Friedreich ataxia (FRDA). Etravirine increases frataxin protein and corrects the biochemical defects in cells derived from FRDA patients. Because of these findings, and since etravirine displays a favorable safety profile, we conducted a pilot open-label phase 2 clinical trial assessing the safety and potential efficacy of etravirine in FRDA patients.

Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.

Background: Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.

Methods: A total of 46 patients affected by HSP, genetically and clinically evaluated and tested with SPRS scores, and 46 healthy controls (HC) matched by age and gender underwent a single-voxel Magnetic Resonance Spectroscopy sampling (MRS) of bilateral pre-central and pre-frontal regions.

Social face processing in chronic severe traumatic brain injury: Altered decoding of emotions and mental states but preserved gaze cueing of attention.

The processing of social information transmitted by facial stimuli is altered in individuals with traumatic brain injury (TBI). This study investigated whether these alterations also affect the mechanisms underlying the orienting of visual attention in response to eye-gaze signals. TBI patients and a control group of healthy individuals matched on relevant criteria completed a spatial cueing task.

Linking Health Terminologies: A Unified Approach to the WHO Family of International Classifications.

This paper presents an effort by the World Health Organization (WHO) to integrate the reference classifications of the Family of International Classifications (ICD, ICF, and ICHI) into a unified digital framework. The integration was accomplished via an expanded Content Model and a single Foundation that hosts all entities from these classifications, allowing the traditional use cases of individual classifications to be retained while enhancing their combined use. The harmonized WHO-FIC Content Model and the unified Foundation has streamlined the content management, enhanced the web-based tool functionalities, and provided opportunities for linkage with external terminologies and ontologies.

Very Low Calorie Ketogenic Diet: What Effects on Lipid Metabolism?

Purpose Of Review: This review aims to critically examine how VLCKD affects plasma lipoprotein, lipid and cholesterol metabolism. Cardiovascular disease is a worldwide health problem affecting millions of people and leading to high rates of mortality and morbidity. There is a well-established association between cardiovascular disease and circulating cholesterol.

Nutritional support team intervention in surgical ICUs and its effect on nutrition delivery and quality in critically ill patients.

Rational: Critically ill surgical patients pose one of the greatest challenges in achieving nutritional goals. Several published papers have demonstrated clear benefits when nutrition support (NS) is managed by a multidisciplinary nutrition support team (NST). We hypothesized that implementing a NST in a surgical intensive care unit (ICU) would increase the number of patients achieving their nutritional goals.

Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia.

Background And Aim: Patient-reported outcome measures (PROMs) are recognized as valuable measures in the clinical setting. In 2018 we developed the Italian version of the "Hereditary Spastic Paraplegia-Self Notion and Perception Questionnaire" (HSP-SNAP), a disease-specific questionnaire that collects personal perception on motor symptoms related to HSP such as stiffness, weakness, imbalance, reduced endurance, fatigue and pain. In this study our primary aim was to assess the questionnaire validity and reliability.

Obesity and Obesity-Related Thyroid Dysfunction: Any Potential Role for the Very Low-Calorie Ketogenic Diet (VLCKD)?

Purpose Of Review: This review aims to explore in-depth the different aspects of the association between very low-calorie ketogenic diet (VLCKD), obesity and obesity-related thyroid dysfunction.

Recent Findings: The VLCKD, proposed as a non-pharmacological strategy for the management of certain chronic diseases, is becoming increasingly popular worldwide. Initially used to treat epilepsy, it has been shown to be effective in controlling body weight gain and addressing various pathophysiological conditions.

Effectiveness of rehabilitation intervention in persons with Friedreich ataxia.

Introduction: The relevance of rehabilitation in progressive neurological disorders, such as Friedreich's Ataxia (FRDA), has yet to be convincingly proven. FRDA is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. The disease onset is usually in adolescence, leading to progressive disability.

The perception of disability in cerebral palsy: a cross-sectional study using the WHODAS 2.0.

This observational study aims to describe the level of perceived disability in Cerebral Palsy (CP). We described the perception of adults by using the interviewer-administered version of the WHO disability assessment schedule (WHODAS 2.0).

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations. We therefore screened individuals who had been found to bear variants in a non-expansion SCA-associated gene through genetic testing, and after we eliminated genetic groups that had fewer than 30 subjects, there were 756 subjects bearing single-nucleotide variants or deletions in one of seven genes: CACNA1A (239 subjects), PRKCG (175), AFG3L2 (101), ITPR1 (91), STUB1 (77), SPTBN2 (39), or KCNC3 (34).

Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response.

Aim: Nodopathies and paranodopathies are autoimmune neuropathies associated with antibodies to nodal-paranodal antigens (neurofascin 140/186 and 155, contactin-1, contactin-associated protein 1 [Caspr1]) characterized by peculiar clinical features, poor response to standard immunotherapies (e.g., intravenous immunoglobulins, IVIg).

Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models.

The coding of medical documents and in particular of rehabilitation notes using the International Classification of Functioning, Disability and Health (ICF) is a difficult task showing low agreement among experts. Such difficulty is mainly caused by the specific terminology that needs to be used for the task. In this paper, we address the task developing a model based on a large language model, BERT.

Case report: A novel deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.

Defects in are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in Of note, the disease is unexpectedly progressing rapidly and in a biphasic way differently from the previously reported cases.

Nutrition intake in critically ill patients with coronavirus disease (COVID-19): A nationwide, multicentre, observational study in Argentina.

Introduction: In 2020 the pandemic caused by SARS-COV-2 demanded an enormous number of healthcare resources in order to guarantee adequate treatment and support for those patients. This study aims to assess caloric and protein intake and evaluate its associations with relevant clinical outcomes in critically ill with coronavirus disease (COVID-19) patients.

Methods: A nationwide, multicentre prospective observational study including twelve Argentinian intensive care units (ICUs,) was conducted between March and October 2020.

The perceived impact of Covid-19 pandemic on the children with cerebral palsy: the parents' perspective explored within the "6-F words" framework.

Background: In 2020 the world faced the spread of the coronavirus infection disease (Covid-19). This was a general public health emergency but many people with disabilities might have been particularly affected.

Objective: This paper aims to investigate the impact of the Covid-19 pandemic on children with Cerebral Palsy (CP) and their families.

Nutrition intake in critically ill patients with coronavirus disease (COVID-19): A nationwide, multicentre, observational study in Argentina.

Introduction: In 2020 the pandemic caused by SARS-COV-2 demanded an enormous number of healthcare resources in order to guarantee adequate treatment and support for those patients. This study aims to assess caloric and protein intake and evaluate its associations with relevant clinical outcomes in critically ill with coronavirus disease (COVID-19) patients.

Methods: A nationwide, multicentre prospective observational study including twelve Argentinian intensive care units (ICUs,) was conducted between March and October 2020.

Care of patients on home parenteral nutrition during the first year of the COVID-19 pandemic: Management of central line-associated bloodstream infections.

Background And Aim: The aim of this study was to analyze central line-associated bloodstream infections (CLABSI) in home parenteral nutrition (HPN) patients assisted by an interdisciplinary team during the first year of the COVID-19 pandemic in Argentina.

Methods: Longitudinal, retrospective and analytical study of patients on HPN for ≥90 days during 2020. Data collection included age (adults >18 years, pediatric ≤18 years), gender, diagnosis, type of catheter, number of lumens, venous access, days on HPN, infusion modality and number of CLABSI-associated events.

Psychiatric symptoms in adult patients with cerebral palsy: A cohort study.

Background: Patients with cerebral palsy (CP) have an increased risk of developing mental health disorders.

Aims: This paper is aimed to investigate the occurrence of psychiatric symptoms in adults with CP and to explore the relation between clinical and psychosocial variables.

Methods And Procedures: We included 199 adults with a diagnosis of CP.