Vision rehabilitation workforce in Italy: a country-level analysis.

Background: Research and monitoring of human resources available for vision rehabilitation services has been a neglected area of work in the past. This study aims to offer an overview of the vision rehabilitation workforce available in Italy, in order to profile the distribution and number of human resources for vision rehabilitation.

Methods: Data on the available vision rehabilitation professionals were collected from the yearly report on the state of implementation of policies relating to the prevention of blindness, education and vision rehabilitation, according to a law which was passed by the Italian Ministry of Health, Department of Health Prevention.

Uncertainty directed factorial clinical trials.

The development and evaluation of novel treatment combinations is a key component of modern clinical research. The primary goals of factorial clinical trials of treatment combinations range from the estimation of intervention-specific effects, or the discovery of potential synergies, to the identification of combinations with the highest response probabilities. Most factorial studies use balanced or block randomization, with an equal number of patients assigned to each treatment combination, irrespective of the specific goals of the trial.

Use of the Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7) questionnaires for clinical decision-making and psychological referral in ophthalmic care: a multicentre observational study.

Objectives: The aim of this study was to evaluate the influence of anxiety and depression on clinician decision-making in patients suffering from chronic eye disease in ophthalmological clinical practice.

Design And Setting: This multicentre observational study, in collaboration with the WHO, included ophthalmologists and their patients affected by chronic eye disease. States of anxiety and depression were screened with specific questionnaires, the Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7), self-administered by patients before the visit.

The embryo non-invasive pre-implantation diagnosis era: how far are we?

Advancements in assisted reproduction (AR) methodologies have allowed significant improvements in live birth rates of women who otherwise would not be able to conceive. One of the tools that allowed this improvement is the possibility of embryo selection based on genetic status, performed via preimplantation genetic testing (PGT). Even though the widespread use of PGT from TE biopsy helped to decrease the interval from the beginning of the AR intervention to pregnancy, especially in older patients, in AR, there are still many concerns about the application of this invasive methodology in all cycles.

Approximating the Operating Characteristics of Bayesian Uncertainty Directed Trial Designs.

Bayesian response adaptive clinical trials are currently evaluating experimental therapies for several diseases. Adaptive decisions, such as pre-planned variations of the randomization probabilities, attempt to accelerate the development of new treatments. The design of response adaptive trials, in most cases, requires time consuming simulation studies to describe operating characteristics, such as type I/II error rates, across plausible scenarios.

[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].

Niemann-Pick type C (NPC) is a disorder of the lysosomal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurological / psychiatric and visceral symptoms, with wide variability in age of presentation, from prenatal / neonatal to adult-onset forms of the disease.

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.

Background: Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis.

Cannabidiol in children with treatment-resistant epilepsy with myoclonic-atonic seizures.

Purpose: This multicenter study aimed to evaluate the efficacy and tolerability of add-on cannabidiol (CBD) in treatment-resistant patients with epilepsy with myoclonic-atonic seizures (EMAtS) (n = 22) and Sturge Weber syndrome (SWS) with myoclonic-atonic seizures (n = 4).

Methods: Patients who met the diagnostic criteria of treatment-resistant EMAtS or SWS with myoclonic-atonic seizures were included. Cannabidiol was added in doses ranging from 8 to 40 mg/kg/day.

Use of sulthiame as add-on therapy in children with non-self-limited focal epilepsies of childhood.

Purpose: This retrospective study aimed to evaluate the efficacy and tolerability of sulthiame (STM) as an add-on treatment in 49 patients with non-self-limited focal epilepsies of childhood (non-SeLFE) resistant to other antiseizure medications (ASM) and/or non-pharmacological treatment.

Methods: Patients with non-SeLFE who had failed to respond to at least five previous ASM, alone or in combination, were included in the study. All patients underwent neurological examination, brain magnetic resonance imaging repeated prolonged electroencephalography (EEG) or video-EEG studies, and neurometabolic studies.

Prediction-based uncertainty quantification for exchangeable sequences.

Prediction has a central role in the foundations of Bayesian statistics and is now the main focus in many areas of machine learning, in contrast to the more classical focus on inference. We discuss that, in the basic setting of random sampling-that is, in the Bayesian approach, exchangeability-uncertainty expressed by the posterior distribution and credible intervals can indeed be understood in terms of prediction. The posterior law on the unknown distribution is centred on the predictive distribution and we prove that it is marginally asymptotically Gaussian with variance depending on the , i.

Efficacy and Patients' Satisfaction with the ORCAM MyEye Device Among Visually Impaired People: A Multicenter Study.

To evaluate usability of and satisfaction with OrCam MyEye, a finger-size wearable assistive technology device for visually impaired during real-world tasks. This prospective multicenter study was conducted on visually impaired people recruited from 5 vision rehabilitation centers. Patients performed real-world tasks such as near and distance reading, money handling, colour identification and face recognition in 2 different scenarios: without using any low vision aid and with OrCam.

Use of sulthiame as add-on therapy in children with myoclonic atonic epilepsy: A study of 35 patients.

Purpose: The aim of this retrospective study was to evaluate efficacy and tolerability of sulthiame (STM) as add-on treatment in 35 patients with myoclonic atonic epilepsy (MAE) resistant to other antiseizure medications (ASMs) and/or non-pharmacological treatment.

Methods: Patients were selected according to the diagnostic definition of MAE and were resistant to at least four previous to ASM, alone or in combination. Neurologic examinations, brain magnetic resonance imaging, and repeated prolonged electroencephalography (EEG) or video-EEG studies as well as neurometabolic studies were performed in all cases.

Panayiotopoulos syndrome: Unusual clinical manifestations.

Purpose: We retrospectively analyzed the electroclinical features, treatment, and outcome of patients with Panayiotopoulos syndrome (PS) who presented with unusual clinical manifestations.

Method: A retrospective, descriptive, multicenter study was conducted evaluating 44 patients with PS who had seizures with an unusual semiology. Data from patients with PS seen at eight Argentine centers between April 2000 and April 2019 were collected.

More than one self-limited epilepsy of childhood in the same patient: A multicenter study.

Objective: We describe the evolution of the electroclinical picture of patients with different types of self-limited epilepsy of childhood (SLEC) occurring at the same or at different times with or without atypical evolutions as well as patients with SLEC associated with childhood absence epilepsy (CAE).

Material And Methods: A multicenter, retrospective, descriptive study was conducted evaluating patients with SLEC who had focal seizures of different types of SLEC including atypical evolutions as well as SLEC associated with absence epilepsy seen at eight Argentinian centers between April 2000 and April 2019. Of 7705 patients with SLEC, aged between 2 and 14 years (mean, 7.

Ophthalmologists perceived usefulness of Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) for evaluating the mental health of patients with chronic eye diseases.

Purpose: To evaluate the awareness of ophthalmologists about assessing the mental health of patients and usefulness of the Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) survey.

Methods: This web-based survey was performed in 2020 at an eye hospital in Saudi Arabia. Participants included ophthalmologists and physicians.

Self-limited epilepsy of childhood with affective seizures: A well-defined epileptic syndrome?

Objective: Here we present cases of focal epilepsy with affective symptoms analyzing seizure characteristics, EEG pattern, treatment, and outcome.

Methods: A multicenter, descriptive, retrospective study was conducted evaluating 18 patients with self-limited epilepsy who presented with seizures with affective symptoms seen between April 2000 and April 2018 at eight Argentinian centers.

Results: Eighteen patients had focal seizures with affective symptoms; all of them had affective symptoms characterized by sudden fright or terror and screaming.

Self-limited epilepsy with centro-temporal spikes: A study of 46 patients with unusual clinical manifestations.

Purpose: We retrospectively analyzed the seizure characteristics, EEG pattern, treatment, and outcome in a series of patients with self-limited epilepsy with centrotemporal spikes (SLECTS) who presented with unusual clinical manifestations.

Method: A retrospective, descriptive, multicenter study was conducted evaluating 46 patients with SLECTS who had seizures with an unusual semiology. We collected data from patients with SLECTS seen at eight Argentine centers between April 1998 and April 2018.

Telemedicine, drug-resistant epilepsy, and ketogenic dietary therapies: A patient survey of a pediatric remote-care program during the COVID-19 pandemic.

Objective: The purpose of this study was to assess parent satisfaction with the management of ketogenic diet therapies (KDTs) through telemedicine using WhatsApp as the main tool.

Methods: Parent satisfaction was longitudinally evaluated through questionnaires. The survey was developed with Google Questionnaire forms and sent via WhatsApp.

West syndrome: A study of 26 patients receiving short-term therapy.

Objective: We describe the electroclinical characteristics of a series of 26 patients with idiopathic West syndrome (WS), who had an excellent response to treatment with vigabatrin (VGB) and corticosteroids alone or in combination.

Methods: Evaluating the records of 178 patients with WS studied at Garrahan Hospital, Niño Jesús Hospital, and Clínica San Lucas between January 2005 and June 2017, we selected 26 patients that met the inclusion criteria of idiopathic WS. The inclusion criteria for idiopathic WS were (1) no personal history of disease, (2) normal neurological examination and neurodevelopment, (3) symmetric spasms in clusters not preceded by any other type of seizure, (d) symmetric hypsarrhythmia, (e) normal electroencephalogram (EEG) background, e.

Telemedicine and epilepsy: A patient satisfaction survey of a pediatric remote care program.

Purpose: The aim of this study was to assess parent satisfaction three years after the implementation of a pediatric epilepsy telemedicine program.

Methods: The program was developed with support from the Ministry of Health through Hospital Nacional de Pediatría J.P.

The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 (VA LV VFQ-48): Performance of the Italian version.

Purpose: The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 is among the most validated tools to collect patient-reported outcomes in a low-vision population. We have aimed to conduct a pilot validation of the Italian version of the Veterans Affairs Low-Vision Visual Functioning Questionnaire-48.

Methods: The Veterans Affairs Low-Vision Visual Functioning Questionnaire-48 was translated using a standardized procedure and then administered to consecutive low-vision patients attending rehabilitation services in three centers.

Sulthiame add-on therapy in children with Lennox-Gastaut syndrome: A study of 44 patients.

Purpose: The aim of this study was to evaluate efficacy and tolerability of sulthiame as an add-on treatment in 44 patients with Lennox-Gastaut syndrome (LGS) refractory to other antiepileptic drugs and/or non-pharmacological treatment.

Methods: Patients were selected according to the following criteria: (1) age 4 years or older, (2) a diagnosis of LGS refractory to at least four previous antiepileptic drugs, alone or in combination. Neurologic examinations, brain magnetic resonance imaging, and repeated prolonged electroencephalography (EEG) or video-EEG studies were performed in all cases.

[Vagus nerve stimulation: treatment of 158 pediatric patients with a long-term follow-up].

Aim: To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability.

Patients And Methods: A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded.

Integrated strategy for in vitro characterization of a bileaflet mechanical aortic valve.

Background: Haemodynamic performance of heart valve prosthesis can be defined as its ability to fully open and completely close during the cardiac cycle, neither overloading heart work nor damaging blood particles when passing through the valve. In this perspective, global and local flow parameters, valve dynamics and blood damage safety of the prosthesis, as well as their mutual interactions, have all to be accounted for when assessing the device functionality. Even though all these issues have been and continue to be widely investigated, they are not usually studied through an integrated approach yet, i.