We provide a suitable generalisation of Pansu's differentiability theorem to general Radon measures on Carnot groups and we show that if Lipschitz maps between Carnot groups are Pansu-differentiable almost everywhere for some Radon measures , then must be absolutely continuous with respect to the Haar measure of the group.
View Article and Find Full Text PDFBackground: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too.
View Article and Find Full Text PDFBackground: The guideline was promoted by the Italian General Practitioners-Primary Care and Geriatrics Hospital-Community Societies and was carried out involving the National Institute of Health and an Expert Panel including representatives from 25 Scientific and Health-Professional Organizations. The aim of the Guideline was to develop evidence-based recommendations on the efficacy of CGA in older people across different clinical settings and the accuracy and utility of CGA-based tools to assess prognosis.
Methods: According to the methodological handbook of the Italian National System of Guidelines and NICE criteria (National Institute for Health and Care Excellence in England), the Guideline was produced based on the Grading of Recommendations Assessment, Development and Evaluation.
Objectives: Functional surgery (FS) is often used to correct congenital or acquired deformities in neurological patients. Along with functional results, short- and medium-term patient satisfaction should always be considered a key goal of surgery and rehabilitation. The aim of this study is to assess the short to medium-term satisfaction of patients who underwent FS and its correlation with perceived improvements.
View Article and Find Full Text PDFBackground: Among neurological pathologies, cerebral palsy and stroke are the main contributors to walking disorders. Machine learning methods have been proposed in the recent literature to analyze gait data from these patients. However, machine learning methods still fail to translate effectively into clinical applications.
View Article and Find Full Text PDFIntroduction: In post-stroke patients with equinovarus foot deformity (EVFD), soft tissue rearrangements may contribute to muscle overactivity when a muscle is stretched or tension is applied. Therefore, we investigated the effects of surgically restoring the triceps surae (TS) length and lengthening ability on TS spasticity.
Methods: This retrospective study included chronic post-stroke patients who underwent neuro-orthopedic surgery inclusive of TS lengthening.
Introduction: Patients with Charcot-Marie-Tooth disease (CMT) often suffer from walking-related pain (WRP), muscle weakness, foot deformities, and reduced ankle dorsiflexion (DF), which affects their ability to walk and daily activities. Functional surgery (FS) can restore foot deviations, affecting the loading ability during gait. We assessed the short-term effects of FS in patients with CMT on WRP, foot and ankle structure, and function, along with patients' perceived improvement.
View Article and Find Full Text PDFJ Allergy Clin Immunol Pract
April 2024
Background: Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency is characterized by unpredictable recurrent episodes of swelling affecting the skin and the mucosa tissues, including gastrointestinal tract and/or oropharyngeal-laryngeal mucosae. Long-term prophylaxis (LTP) is used to prevent attacks.
Objective: Because C1-INH plays a pivotal role in several biological pathways, we investigated the possible association of comorbidities with C1-INH deficiency and the use of LTP with attenuated androgens (AA) or tranexamic acid (TXA).
Objectives: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset ataxia characterized by cerebellar dysfunction, spasticity, and sensory-motor polyneuropathy due to variations in the gene (13q11). To date, no studies have instrumentally assessed vestibular function in this condition.
Methods: We report a 36-year-old woman with diagnosis of ARSACS syndrome due to homozygous mutation (c.
Background: This study aimed to determine the effect of different carbohydrate (CHO) doses on exercise capacity in patients with McArdle disease-the paradigm of "exercise intolerance", characterized by complete muscle glycogen unavailability-and to determine whether higher exogenous glucose levels affect metabolic responses at the McArdle muscle cell (in vitro) level.
Methods: Patients with McArdle disease (n = 8) and healthy controls (n = 9) underwent a 12-min submaximal cycling constant-load bout followed by a maximal ramp test 15 min after ingesting a non-caloric placebo. In a randomized, double-blinded, cross-over design, patients repeated the tests after consuming either 75 g or 150 g of CHO (glucose:fructose = 2:1).
(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is to describe vestibular, gait, and speech alterations in CANVAS via a systematic approach. (3) Methods: All patients (n = 5) underwent a standardized clinical-instrumental examination, including the perceptual and acoustic analysis of speech, instrumental gait, and balance analysis (posturographic data were acquired using a force plate [Kistler, Winterthur, Switzerland] while 3D gait analysis, inclusive of surface electromyography, was acquired using a motion capture system [SMART DX, BTS Bioengineering, Milan, Italy], a wireless electromyograph [FreeEMG, BTS Bioengineering, Milan, Italy]), and vestibular assessment with video-oculography.
View Article and Find Full Text PDFObjective: Equinus foot deformity (EFD) is the most common deviation after stroke. Several physiotherapy interventions have been suggested to treat it. However, studies evaluating the efficacy of these treatments vary widely in terms of assessment modalities, type of data analysis, and nomenclature.
View Article and Find Full Text PDFCharcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies and can lead to progressive muscular weakness, pes cavus, loss of deep tendon reflexes, distal sensory loss, and gait impairment. There are still no effective drugs or surgical therapies for CMT, and supportive treatment is limited to rehabilitative therapy and surgical treatment of skeletal deformities. Many rehabilitative therapeutic approaches have been proposed, but timing and cadence of rehabilitative intervention are not clearly defined, and long-term follow-up is lacking in literature.
View Article and Find Full Text PDFBilateral subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment in advanced Parkinson's Disease (PD). However, the effects of STN-DBS on speech are still debated, particularly in the long-term follow-up. The objective of this study was to evaluate the long-term effects of bilateral STN-DBS on speech in a cohort of advanced PD patients treated with bilateral STN-DBS.
View Article and Find Full Text PDFBackground: The gold standard for the treatment of cardiac implantable electronic devices (CIEDs)-related infection and lead malfunction is transvenous lead extraction (TLE). To date, the risk of mortality directly related to TLE procedures is relatively low, but data on post-procedural and long-term mortality are limited, even more in the aging population.
Methods: Consecutive patients with CIEDs who underwent TLE were retrospectively studied.
Objective: To assess the long-term effects of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) on gait in a cohort of advanced Parkinson's Disease (PD) patients.
Methods: This observational study included consecutive PD patients treated with bilateral STN-DBS. Different stimulation and drug treatment conditions were assessed: on-stimulation/off-medication, off-stimulation/off-medication, and on-stimulation/on-medication.
Objective: Breast cancer survivors (BCS) experience many issues of rehabilitative concern due to the treatments they have undergone. Given the chronicity of these outcomes, the increasing number of survivors, and the positive results obtained by supervised exercise, professionals should consider offering self-managed physical activity (PA) programs to this population. Our aim was to map the currently available evidence about self-care rehabilitation for BCS.
View Article and Find Full Text PDFObjective: To evaluate correlations between speech and gait parameters in the long term and under different medication and subthalamic nucleus deep brain stimulation (STN-DBS) conditions in a cohort of advanced Parkinson's disease (PD) patients.
Methods: This observational study included consecutive PD patients treated with bilateral STN-DBS. Axial symptoms were evaluated using a standardized clinical-instrumental approach.
Background: Children with cerebral palsy develop foot deformities due to a combination of factors including muscle shortening, hypertonia, weakness, and cocontraction of muscles acting at the ankle joint resulting in an altered gait pattern. We hypothesized these factors affect the peroneus longus (PL) and tibialis anterior (TA) muscles couple in children who develop equinovalgus gait first followed by planovalgus foot deformities. Our aim was to evaluate the effects of abobotulinum toxin A injection to the PL muscle, in a cohort of children with unilateral spastic cerebral palsy and equinovalgus gait.
View Article and Find Full Text PDFDiabetes mellitus (DM) is more common in people living with HIV (PLWH) than in HIV-negative patients. Here we aimed to describe the response of PLWH with DM to glucose-lowering therapies in a reference hospital of northern Italy. 200 PLWH and DM were identified from the database of our clinic.
View Article and Find Full Text PDFSustained involuntary muscle activity (IMA) is a highly disabling phenomenon that arises in the acute phase of an upper motor neuron lesion (UMNL). Wearable probes for long-lasting surface EMG (sEMG) recordings have been recently recommended to detect IMA insurgence and to quantify its evolution over time, in conjunction with a complex algorithm for IMA automatic identification and classification. In this study, we computed sensitivity (), specificity (), and overall accuracy () of this algorithm by comparing it with the classification provided by two expert assessors.
View Article and Find Full Text PDFObjective: Cancer-related fatigue (CRF) is a disabling chronic condition that cancer survivors could experience during and after recovery and that might benefit from self-managed physical activity (PA) programs. This scoping review aimed to map self-managed PA interventions found in literature for the management of CRF.
Methods: Given the heterogeneity of the topic, scoping review methodological frameworks were used.