Solitary Peutz-Jeghers Polyp in a Paediatric Patient

Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS

Are the forearm muscles excited equally in different, professional piano players?

Background and objectives Professional pianists tend to develop playing-related musculoskeletal disorders mostly in the forearm. These injuries are often due to overuse, suggesting the existence of a common forearm region where muscles are often excited during piano playing across subjects. Here we use a grid of electrodes to test this hypothesis, assessing where EMGs with greatest amplitude are more likely to be detected when expert pianists perform different excerpts. Methods Tasks were separated into two groups: classical excerpts and octaves, performed by eight, healthy, professional pianists. Monopolar electromyograms (EMGs) were sampled with a grid of 96 electrodes, covering the forearm region where hand and wrist muscles reside. Regions providing consistently high EMG amplitude across subjects were assessed with a non-parametric permutation test, designed for the statistical analysis of neuroimaging experiments. Spatial consistency across trials was assessed with the Binomial test. Results Spatial consistency of muscle excitation was found across subjects but not across tasks, confining at most 20% of the electrodes in the grid. These local groups of electrodes providing high EMG amplitude were found at the ventral forearm region during classical excerpts and at the dorsal region during octaves, when performed both at preferred and at high, playing speeds. Discussion Our results revealed that professional pianists consistently load a specific forearm region, depending on whether performing octaves or classical excerpts. This spatial consistency may help furthering our understanding on the incidence of playing-related muscular disorders and provide an anatomical reference for the study of active muscle loading in piano players using surface EMG

RDA and archives: the search for a bridge between different domains

Since its inception in 2012, the MAB Toscana has operated through multi professional working groups with membership drawn from libraries, archives and museums, having in common a concern on interoperability and shared services. For this reason, the Italian translation of the RDA guidelines, which are proposed as a potentially usable tool for archival fonds and museum collections, has been welcomed with great interest. A working group has tested the application of RDA to the fonds of the Ligue européenne de coopération économique, highlighting strengths and weaknesses in relation to archival standards (ISAD-G and ISAAR-CPF). In the meanwhile, the Records in Contexts model (RIC-CM) established by the International Council on Archives was presented in Italy and attracted interest for its provision of relation techniques between entities for archival description, while defining for each of them individual properties.Nowadays, the focus on quality of data produced by archives, libraries and museums in the context of the semantic web makes it possible to launch a debate between professional communities that have been pursuing parallel avenues for too long. The MAB Toscana wanted to conduct the test which has been illustrated here with the aim of contributing to the harmonization of tools and methods for effectively accessing cultural heritage information resources.Fin dalla sua istituzione nel 2012, il MAB Toscana ha operato attraverso gruppi di lavoro multi professionali con soci provenienti da biblioteche, archivi e musei, accomunati dall’interesse verso l’interoperabilità e i servizi condivisi. Per questo motivo, la traduzione italiana delle linee guida RDA, che vengono proposte come uno strumento potenzialmente utilizzabile per i fondi archivistici e le collezioni museali, è stata accolta con grande interesse. Un gruppo di lavoro ha testato l’applicazione di RDA per i fondi della Ligue européenne de coopération économique, evidenziandone i punti di forza e le debolezze in relazione agli standard archivistici (ISAD-G e ISAAR-CPF). Nel frattempo, è stato presentato in Italia il Records in Contexts model (RIC-CM) stabilito dal Consiglio Internazionale degli archivi, che ha suscitato interesse per il suo provvedere alle relazioni tecniche tra le entità della descrizione archivistica, definendo nel mentre per ciascuna di esse proprietà peculiari.Attualmente, l’attenzione alla qualità dei dati prodotti da archivi, biblioteche e musei nel contesto del Web semantico permette di avviare un dibattito tra comunità professionali che hanno seguito strade parallele per troppo tempo. Il MAB Toscana ha voluto condurre il test che è stato qui illustrato con l’obiettivo di contribuire all’armonizzazione degli strumenti e dei metodi per accedere in modo efficace alle risorse informative del patrimonio culturale

Wearable Monitoring Devices for Assistive Technology: Case Studies in Post-Polio Syndrome

The correct choice and customization of an orthosis are crucial to obtain the best comfort and efficiency. This study explored the feasibility of a multivariate quantitative assessment of the functional efficiency of lower limb orthosis through a novel wearable system. Gait basographic parameters and energetic indexes were analysed during a Six-Minute Walking Test (6-MWT) through a cost-effective, non-invasive polygraph device, with a multichannel wireless transmission, that carried out electro-cardiograph (ECG); impedance-cardiograph (ICG); and lower-limb accelerations detection. Four subjects affected by Post-Polio Syndrome (PPS) were recruited. The wearable device and the semi-automatic post-processing software provided a novel set of objective data to assess the overall efficiency of the patient-orthosis system. Despite the small number of examined subjects, the results obtained with this new approach encourage the application of the method thus enlarging the dataset to validate this promising protocol and measuring system in supporting clinical decisions and out of a laboratory environment

Electrolyte abnormalities in cystic fibrosis: systematic review of the literature

Background: Cystic fibrosis per se can sometimes lead to hyponatremia, hypokalemia, hypochloremia or hyperbicarbonatemia. This tendency was first documented 60years ago and has subsequently been confirmed in single case reports or small case series, most of which were retrospective. However, this issue has not been addressed analytically. We have therefore systematically reviewed and analyzed the available literature on this subject. Methods: This was a systematic review of the literature. Results: The reports included in this review cover 172 subacute and 90 chronic cases of electrolyte imbalances in patients with cystic fibrosis. The male:female ratio was 1.57. Electrolyte abnormalities were mostly associated with clinically inapparent fluid volume depletion, mainly affected patients aged ≤2.5years, frequently tended to recur and often were found before the diagnosis of cystic fibrosis was established. Subacute presentation often included an history of heat exposure, vomiting, excessive sweating and pulmonary infection. History of chronic presentation, in contrast, was often inconspicuous. The tendency to hypochloremia, hypokalemia and metabolic alkalosis was similar between subacute and chronic patients, with hyponatremia being more pronounced (P < 0.02) in subacute compared to chronic presentations. Subacute cases were treated parenterally; chronic ones were usually managed with oral salt supplementation. Retention of urea and creatinine was documented in 38 % of subacute cases. Conclusions: The findings of our review suggest that physicians should be aware that electrolyte abnormalities can occur both as a presenting and a recurring feature of cystic fibrosis

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

Acute bronchiolitis is the leading cause of lower respiratory tract infection and hospitalization in children less than 1 year of age worldwide. It is usually a mild disease, but some children may develop severe symptoms, requiring hospital admission and ventilatory support in the ICU. Infants with pre-existing risk factors (prematurity, bronchopulmonary dysplasia, congenital heart diseases and immunodeficiency) may be predisposed to a severe form of the disease. Clinical diagnosis of bronchiolitis is manly based on medical history and physical examination (rhinorrhea, cough, crackles, wheezing and signs of respiratory distress). Etiological diagnosis, with antigen or genome detection to identify viruses involved, may have a role in reducing hospital transmission of the infection. Criteria for hospitalization include low oxygen saturation (<90-92%), moderate-to-severe respiratory distress, dehydration and presence of apnea. Children with pre-existing risk factors should be carefully assessed. To date, there is no specific treatment for viral bronchiolitis, and the mainstay of therapy is supportive care. This consists of nasal suctioning and nebulized 3% hypertonic saline, assisted feeding and hydration, humidified O2 delivery. The possible role of any pharmacological approach is still debated, and till now there is no evidence to support the use of bronchodilators, corticosteroids, chest physiotherapy, antibiotics or antivirals. Nebulized adrenaline may be sometimes useful in the emergency room. Nebulized adrenaline can be useful in the hospital setting for treatment as needed. Lacking a specific etiological treatment, prophylaxis and prevention, especially in children at high risk of severe infection, have a fundamental role. Environmental preventive measures minimize viral transmission in hospital, in the outpatient setting and at home. Pharmacological prophylaxis with palivizumab for RSV bronchiolitis is indicated in specific categories of children at risk during the epidemic period. Viral bronchiolitis, especially in the case of severe form, may correlate with an increased incidence of recurrent wheezing in pre-schooled children and with asthma at school age. The aim of this document is to provide a multidisciplinary update on the current recommendations for the management and prevention of bronchiolitis, in order to share useful indications, identify gaps in knowledge and drive future research

Psychological treatments and psychotherapies in the neurorehabilitation of pain. Evidences and recommendations from the italian consensus conference on pain in neurorehabilitation

BACKGROUND: It is increasingly recognized that treating pain is crucial for effective care within neurological rehabilitation in the setting of the neurological rehabilitation. The Italian Consensus Conference on Pain in Neurorehabilitation was constituted with the purpose identifying best practices for us in this context. Along with drug therapies and physical interventions, psychological treatments have been proven to be some of the most valuable tools that can be used within a multidisciplinary approach for fostering a reduction in pain intensity. However, there is a need to elucidate what forms of psychotherapy could be effectively matched with the specific pathologies that are typically addressed by neurorehabilitation teams. OBJECTIVES: To extensively assess the available evidence which supports the use of psychological therapies for pain reduction in neurological diseases. METHODS: A systematic review of the studies evaluating the effect of psychotherapies on pain intensity in neurological disorders was performed through an electronic search using PUBMED, EMBASE, and the Cochrane Database of Systematic Reviews. Based on the level of evidence of the included studies, recommendations were outlined separately for the different conditions. RESULTS: The literature search yielded 2352 results and the final database included 400 articles. The overall strength of the recommendations was medium/low. The different forms of psychological interventions, including Cognitive-Behavioral Therapy, cognitive or behavioral techniques, Mindfulness, hypnosis, Acceptance and Commitment Therapy (ACT), Brief Interpersonal Therapy, virtual reality interventions, various forms of biofeedback and mirror therapy were found to be effective for pain reduction in pathologies such as musculoskeletal pain, fibromyalgia, Complex Regional Pain Syndrome, Central Post-Stroke pain, Phantom Limb Pain, pain secondary to Spinal Cord Injury, multiple sclerosis and other debilitating syndromes, diabetic neuropathy, Medically Unexplained Symptoms, migraine and headache. CONCLUSIONS: Psychological interventions and psychotherapies are safe and effective treatments that can be used within an integrated approach for patients undergoing neurological rehabilitation for pain. The different interventions can be specifically selected depending on the disease being treated. A table of evidence and recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation is also provided in the final part of the pape

A posterior variant of corticobasal syndrome : evidence from a longitudinal study of cognitive and functional status in a single case

We describe a patient (CG) suffering from early onset dementia who presented with corticobasal syndrome (CBS). The aims of the study were as follows: (i) a detailed description of the cognitive phenotype; (ii) a comprehensive, longitudinal evaluation of apraxia; (iii) an appraisal of the impact of apraxia and other cognitive impairments on patient functional status; and (iv) an indirect mapping of degeneration spreading. A three-year longitudinal, observational follow-up study of cognitive and functional status was performed. Four main results emerged. First, an unusual CBS phenotype appeared that was characterized by symmetrical presentation, asymmetrical course, and prominent posterior (bi-parietal) cognitive and motor cortical manifestations. Second, some findings of limb apraxia in CBS were replicated and substantiated; moreover, some novel findings of other cognitive impairments emerged. Third, an early, significant functional decline, probably related to apraxia and to visuospatial attention impairments, became apparent. Fourth, CG's clinical picture was compatible with an underlying dysfunction of the large-scale, dorsal sensory-motor association network, as already suggested in previous CBS cases. This case report confirms the heterogeneity of CBS and suggests the emergence of a possible less common variant, i.e. the posterior CBS (P-CBS)