Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.

Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.

Stereo-EEG around the world: State of the art in Italy.

Stereo-EEG is not just a diagnostic examination but a complex methodology, requiring an accurate synthesis of many data (anatomical, clinical, neurophysiological, cognitive, metabolic, and genetic). The implantation scheme is decided based on a hypothesis (or hypotheses) of epileptogenic zone localization. Subsequently, intracerebral electrical stimulation is used to define the extent of highly functional cortical regions and to reproduce the clinical symptoms and signs associated with seizures.

Fox Insight: Most Bothersome Symptoms in Early-Stage Parkinson's Disease.

Background: Limited evidence exists regarding the meaningfulness of symptoms experienced in early Parkinson's disease (PD).

Objectives: To identify the most bothersome symptoms experienced by people with early PD, leveraging data from the Parkinson's Disease Patient Report of Problems (PD-PROP) questionnaire within the Fox Insight Study.

Methods: Individuals with a self-reported diagnosis of PD completed the PD-PROP questionnaire, reporting up to five most bothersome symptoms.

Multimodal oculomotor assessment reveals prodromal markers of Parkinson's disease in non-manifesting LRRK2 G2019S mutation carriers.

Oculomotor behaviour changes in patients with Parkinson's disease (PD) are a promising source of prodromal disease markers. Capitalizing on this phenomenon to facilitate early diagnosis requires oculomotor assessment in prodromal cohorts. We examined oculomotor behaviour in non-manifesting LRRK2 G2019S mutation carriers (LRRK2-NM), who have heightened PD risk.

An Educational Digital Tool to Improve the Implementation of Switching to a Biosimilar (Rapid Switch Trainer): Tool Development and Validation Study.

Background: Switching to biosimilars is an effective and safe practice in treating inflammatory diseases; however, a nocebo effect may arise as a result of the way in which the switch is communicated to a given patient.

Objective: We aimed to design a gaming-based digital educational tool (including a discussion algorithm) to support the training of health care professionals in efficiently communicating the switch to biosimilars, minimizing the generation of a nocebo effect and thus serving as an implementation strategy for the recommended switch.

Methods: The tool was developed based on interviews and focus group discussions with key stakeholders, both patients and health care professionals.

The p.L1795F variant causes Parkinson's disease in the European population.

Pathogenic variants in the gene represent the most common cause of autosomal dominant Parkinson's disease (PD) worldwide. We identified the p.L1795F variant in 14 White/European ancestry PD patients, including two families with multiple affected carriers and seven additional affected individuals with familial PD using genotyping and sequencing data from more than 50,000 individuals through GP2, AMP-PD, PDGENEration, and CENTOGENE.

Adherence of Clinical Practice Guidelines for Oropharyngeal Dysphagia in Parkinson Disease to Trustworthy Standards: A Systematic Survey.

Despite the high prevalence and burden of dysphagia in Parkinson disease (PD), the availability and trustworthiness of clinical practice guidelines (CPGs) regarding its assessment and management remains uncertain. The objective of this study is to appraise the quality of CPGs for dysphagia in PD. We searched OVID Medline, Embase, CINAHL and SpeechBite from January 2011 to July 2023 for guidance documents addressing screening, referral, monitoring, assessment, or management of dysphagia in PD.

Epilepsy surgery below the age of 5 years: Are we still in time to preserve developmental and intellectual functions?

Objective: The aim of this study is to describe the pre- and post-operative developmental and intellectual functions in a cohort of patients who underwent surgery for drug-resistant epilepsy (DRE) before the age of 5 years.

Method: We retrospectively reviewed the medical records and neurodevelopmental assessments of a cohort of 80 surgically treated pediatric patients with DRE. We included patients if they had at least one pre- and one post-surgical neuropsychological assessments; 27 met the inclusion criteria.

Lateralized Subthalamic Stimulation for Axial Dysfunction in Parkinson's Disease: Exploratory Outcomes and Open-Label Extension.

Background: A randomized trial suggested that reducing left-sided subthalamic stimulation amplitude could improve axial dysfunction.

Objectives: To explore open-label tolerability and associations between trial outcomes and asymmetry data.

Methods: We collected adverse events in trial participants treated with open-label lateralized settings for ≥3 months.

Improving Parkinson's Disease Care through Systematic Screening for Depression.

Background: Depression is common in Parkinson's disease (PD) but is underrecognized clinically. Although systematic screening is a recommended strategy to improve depression recognition in primary care practice, it has not been widely used in PD care.

Methods: The 15-item Geriatric Depression Scale (GDS-15) was implemented at 5 movement disorders clinics to screen PD patients.

Unmet Need in Early-Onset Parkinson's Disease: Deep Brain Stimulation and Pregnancy.

Pregnancy in women with early-onset Parkinson's disease (PD) is likely to have a higher frequency given the trend toward increasing maternal age, thus resulting in a greater overlap time between childbearing age and PD risk. Deep brain stimulation (DBS) therapy is nowadays offered to PD patients at earlier stage of the disease, when women can still be pre-menopausal. However, few data are available about DBS safety during pregnancy.

Replacement of the massive amino acid losses induced by hemodialysis: A new treatment option proposal for a largely underestimated issue.

Background: A series of interesting literature reports acknowledges the notable loss of essential and non-essential amino acids (EAAs and NEAAs) during hemodialysis sessions. These losses may exceed 800 g/year, thus contributing towards accelerating the onset of malnutrition in hemodialysis patients (HD).

Objective: A novel tailored amino acid formula for oral administration was developed to replace total amounts of each individual amino acid lost during dialysis diffusive/convective HD strategies, monitoring the effects produced on nutritional and hematological status.

Cognitive Symptoms in Cross-Sectional Parkinson Disease Cohort Evaluated by Human-in-the-Loop Machine Learning and Natural Language Processing.

Background And Objectives: Cognitive impairment is experienced by up to 80% of people with Parkinson disease (PD). Little is known regarding the subjective experience and frequency of bothersome cognitive problems across the range of disease duration as expressed directly in patients' own words. We describe the types and frequency of bothersome cognitive symptoms reported verbatim by patients with PD.

Surgical and radiosurgical treatment of hypothalamic hamartoma: The Italian experience between 2011 and 2021.

Objective: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques.

Methods: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome.

Hypothalamic Hamartoma related epilepsy: A systematic review exploring clinical, neuropsychological, and psychiatric outcome after surgery.

The post-surgical outcome for Hypothalamic Hamartoma (HH) related epilepsy in terms of seizure freedom (SF) has been extensively studied, while cognitive and psychiatric outcome has been less frequently reported and defined. This is a systematic review of English language papers, analyzing the post-surgical outcome in series of patients with HH-related epilepsy (≥5 patients, at least 6 months follow-up), published within January 2002-December 2022. SF was measured using Engel scale/equivalent scales.

The value of linear and non-linear quantitative EEG analysis in paediatric epilepsy surgery: a machine learning approach.

Epilepsy surgery is effective for patients with medication-resistant seizures, however 20-40% of them are not seizure free after surgery. Aim of this study is to evaluate the role of linear and non-linear EEG features to predict post-surgical outcome. We included 123 paediatric patients who underwent epilepsy surgery at Bambino Gesù Children Hospital (January 2009-April 2020).