Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.

Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3.

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero () gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in -related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias.

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findings of a novel 63-years-old LGMDR8 patient of Italian origins, who went undiagnosed for 24 years. Clinical exome sequencing identified two missense variants, c.

Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

Background: Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients.

Methods: Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).

Non-length-dependent small fiber neuropathy: Not a matter of stockings and gloves.

The clinical spectrum of small fiber neuropathy (SFN) encompasses manifestations related to the involvement of thinly myelinated A-delta and unmyelinated C fibers, including not only the classical distal phenotype, but also a non-length-dependent (NLD) presentation that can be patchy, asymmetrical, upper limb-predominant, or diffuse. This narrative review is focused on NLD-SFN. The diagnosis of NLD-SFN can be problematic, due to its varied and often atypical presentation, and diagnostic criteria developed for distal SFN are not suitable for NLD-SFN.

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.

Objective: To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).

Methods: Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).

Results: We included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18-72).

["Activate your Wait" project : pilot study carried out at a thermal centre].

Physical activity is recognised as a major health determinant, with positive effects on health, environmental sustainability and economy. National surveillance data show that one out of three Italians - adult and elderly alike - declares to be sedentary, with a progressively increasing trend. From the urgent need to implement strategies to promote physical activity the “Activate your Wait” (“Attiva l’Attesa”) project was born, aimed at transforming the waiting pauses during day to day life into opportunities to perform simple stretching and active mobilization exercises.

Passive air sampling: the use of the index of microbial air contamination.

Background: Bioaerosol plays an important role in human life with potentially infectious, allergic and toxic effects. Active and passive methods can be used to assess microbial air contamination, but so far there is not a unanimous consensus regarding the indications about methods to be used and how to interpret the results. The passive method has been standardized by the Index of Microbial Air contamination (IMA).

The Influence of Surgical Staff Behavior on Air Quality in a Conventionally Ventilated Operating Theatre during a Simulated Arthroplasty: A Case Study at the University Hospital of Parma.

Surgical staff behavior in operating theatres is one of the factors associated with indoor air quality and surgical site infection risk. The aim of this study was to apply an approach including microbiological, particle, and microclimate parameters during two simulated surgical hip arthroplasties to evaluate the influence of staff behavior on indoor air quality. During the first hip arthroplasty, the surgical team behaved correctly, but in the second operation, behavioral recommendations were not respected.

The prevention of doping and the improper use of drugs and food supplements in sports and physical activities: a survey on the activity of the prevention departments of Italian local health authorities.

Introduction: Doping is an important public health problem widespread not only among elite athletes, but also among amateur and recreational athletes and the general population. In Italy the introduction of doping prevention within the Essential Levels of Care (LEA) with the DPCM 12/1/2017 represents a crucial step towards the implementation of education and health promotion interventions. In this context, the Departments of Prevention (DP) of the Local Health Authorities (LHA) have to play a fundamental role, becoming the cultural and operational reference on this issue.

Non-length-dependent somatosensory small fiber pathology presenting with restless legs syndrome in pre-motor Parkinson's disease. Evidence from skin biopsy in four patients.

Background: The determinants of restless legs syndrome (RLS) occurring in co-morbid association with Parkinson's disease (PD) are currently unknown.

Methods: We performed a skin biopsy in proximal and distal sites of lower limbs in four PD patients, in which RLS had emerged in the pre-motor phase.

Results: A reduced somato-sensory intraepidermal nerve fiber (IENF) density mainly in the proximal sites, indicative of non-length-dependent small fiber pathology (SFP), was found in all patients, in absence of electroneurographic signs of large fiber neuropathy.

Radial Nerve F-wave reference values with surface electrodes from the anconeus muscle.

Introduction: We sought to obtain normative values for radial nerve F-wave variables, recording with surface electrodes from the anconeus muscle.

Methods: We tested 30 healthy participants (17 women, 13 men) and measured the following variables: number of F waves/40 traces (F%); minimum, maximum, and mean F-wave latency (FMIN, FMAX, FMED, respectively); F-wave chronodispersion (FCHR); interside differences of F% and FMIN (DF% and DFMIN, respectively).

Results: The mean F% was 41.

The implementation of a Community Health Centre-based primary care model in Italy. The experience of the Case della Salute in the Emilia-Romagna Region.

Background: The Comunity Health Centre (CHC) primary care model is a team-based health care delivery model intended to provide comprehensive and continuous medical care to patients within a defined community. The CHC, Case della Salute in Italian, model was introduced in the Emilia-Romagna Region in 2010.

Methods: We present updated data on the implementation on the CHC Case della Salute primary care model in the Emilia-Romagna Region.

A multidisciplinary approach to the study of cultural heritage environments: Experience at the Palatina Library in Parma.

The aim of this paper is to describe a multidisciplinary approach including biological and particle monitoring, and microclimate analysis associated with the application of the Computational Fluid Dynamic (CFD). This approach was applied at the Palatina historical library in Parma. Monitoring was performed both in July and in December, in the absence of visitors and operators.

Swimming pools and health-related behaviours: results of an Italian multicentre study on showering habits among pool users.

Objectives: Showering before entering a swimming pool is highly recommended to reduce the risk of biological and chemical contamination. This study evaluated the behaviour of indoor swimming pool users; analysed the variables associated with lack of showering; and assessed awareness of the importance of showering.

Study Design: Cross-sectional study.

Proposal for a biological environmental monitoring approach to be used in libraries and archives.

In cultural-heritage-related indoor environments, biological particles represent a hazard not only for cultural property, but also for operators and visitors. Reliable environmental monitoring methods are essential for examining each situation and assessing the effectiveness of preventive measures. We propose an integrated approach to the study of biological pollution in indoor environments such as libraries and archives.

Microbial air monitoring in operating theatres: experience at the University Hospital of Parma.

Background: Microbial air monitoring in operating theatres has been a subject of interest and debate. No generally accepted sampling methods and threshold values are available.

Aim: To assess microbial air contamination in empty and working conventionally ventilated operating theatres over a three-year period at the University Hospital of Parma, Italy.

Central facial palsy revisited: a clinical-radiological study.

We investigated the pattern of volitional facial motor deficits in acute stroke patients. We assessed the strength of single facial movements and correlated it to the site of infarct classified on computed tomography scans. Exclusion criteria were previous stroke, cerebral hemorrhage, and subcortical stroke.

Nail lichen planus: response to treatment and long term follow-up.

In our twenty years' experience of dermatological visits specifically for nail diseases, we saw 105 patients with pathologically proven nail lichen planus. We prescribed treatment to 75 of these patients and we report here the results of treatment. Twenty-seven of these patients were followed-up for more than 5 years (mean follow-up was 10 years): 9 of them (9/27 = 33.

Effect of mobile unidirectional air flow unit on microbial contamination of air in standard urologic procedures.

Background: Infection is one of the most feared complications of surgery. New instrumentation is being developed to reduce deposition of bacteria.

Methods: We investigated 45 major surgical procedures (21 radical nephrectomies [RN] and 24 radical retropubic prostatectomies [RRP]) in our urology department during 2007.