Neurorehabilitation: management and outcomes in physical and rehabilitation network

Rehabilitacija uključuje primjenu svih sredstava s ciljem smanjenja utjecaja patologija i stanja nesposobnosti i ometenosti u globalnom pristupu rješavanja individualnih problema kako bi se postigla optimalna socijalna integracija. U zdravstvenom smislu, rehabilitacija se specifično definira kao “proces aktivne promjene kojim onesposobljena osoba stiče znanja i vještine potrebne za optimalno fizičko, psihološko i socijalno funkcioniranje”. Kao jedinstveni među drugima, specijalisti fizikalne medicine i rehabilitacije imaju holistički pristup prema osobama s onesposobljenošću ili s rizikom za istu i jamče sposobnost i odgovornost za suočavanje i razumijevanje svih kliničkih problema koji su pravi prioritet za individualnog bolesnika. Specijalisti fizikalne medicine i rehabilitacije pružaju neurorehabilitacijske usluge u različitim uvjetima, od odjela u akutnim bolnicama i rehabilitacijskim centrima do ambulanta i društvenih ustanova. Fizikalna i rehabilitacijska medicina je jedina medicinska specijalizacija s mogućnošću rada od doma do zajednice. Kako je svaka osoba jedna i jedinstvena, tako i rehabilitacijski plan treba biti individualiziran, a rehabilitacijska mreža jedna i jedinstvena (različiti uvjeti od akutnih do zajednice, različiti servisi i agencije od zdravstvenih do socijalnih, kulturnih i financijskih, brojni profesionalni i različite kompetencije, različita vremena u prirodnom tijeku bolesti, funkcioniranja i participacije).Rehabilitation involves the use of all means aimed to reduce the impact of disability and handicap pathologies and conditions in a global approach to solve the person’s problems in order to achieve optimal social integration. Within a health context, rehabilitation is specifically defined as “a process of active change by which a person who has become disabled acquires the knowledge and skills needed for optimal physical, psychological and social function”. As unique among others, specialists in physical and rehabilitation medicine have the holistic approach to people who are disabled or at risk of being in disabling conditions, and guarantee the competences and responsibility to face up and to understand all the clinical problems which are really the priority for the patient/individual. Physical and rehabilitation medicine specialists provide neurorehabilitation services in a number of settings, from departments in acute hospitals, rehabilitation centres, outpatient clinics and community facilities. Physical and rehabilitation medicine is the only medical specialty able to work across the different care pathways up to home and community. As the person is a unique individual, the rehabilitation plan must also be individualized and unique. The rehabilitation network should also be unique and unitary (different settings, from acute to community, different services and agencies from health to social, cultural and financial, many professionals and different competencies, different times in the natural history of illness, functioning and participation of the person)

Gorlin-Goltz syndrome: clinical findings in a Italian population

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome (NBCCS) is a rare inherited autosomal dominant genodermatosis, with nearly complete penetrance but variable expression. NBCCS results from mutations in the Patched 1 (PTCH1) gene (40%–88% of NBCCS cases with higher estimates closer to 90% in more recent studies). Recently, mutations in suppressor of fused gene (SUFU) and PTCH2 have been found in patients with NBCCS. The estimated prevalence of the disease ranges between 1/57.000 and 1/256.000, with a male-to-female ratio of 1:1. The clinical features arise in the first, second, or third decades of life.1,2 This syndrome includes a wide spectrum of defects encompassing the skin, eyes, central nervous and endocrine system, and bones. Diagnosis is based on fulfilment of: two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria. Identification of a heterozygous germline PTCH1 or SUFU pathogenic variant on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.3 In this study we sought to investigate clinical aspects in Italian patients with NBCCS. We reviewed all clinical charts of 40 NBCCS patients followed by February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. All patients were investigated in a similar way with periodic evaluations that included dermatological, dental, ophthalmologic, gynecological and cardiological evaluation. Clinical examination included oral inspection, measurement of head circumference and interpupillary distance, examination of the skin for basal cell carcinomas (BCCs), and pits on the palms and soles. Radiographs of the chest, skull, spine, hands, pelvic (female) and teeth panorex were take

Electrophysiological study of visual pathways in nevoid basal cell carcinoma syndrome patients

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted

Neurofibromatosis type 1: ocular electrophysiological and perimetric anomalies

Introduction: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms. Purpose: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient. Methods: The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT). Results: NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT). Conclusion: The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1

Thymol-functionalized hyaluronic acid as promising preservative biomaterial for the Inhibition of Candida albicans biofilm formation

Hyaluronic acid (HA) is a naturally occurring biopolymer that has been employed for a plethora of medicinal applications. Nevertheless, as HA is a natural polysaccharide, it can be a substrate able to promote microbial growth and proliferation. Biopolymer–drug conjugates have gained attention over the years to overcome drawbacks of each single component. Within this context, thymol (Thy), a phenolic compound occurring in essential oils (EOs) extracted from Thymus and Origanum, has been largely studied for its antimycotic applications. However, it is characterized by a low water solubility and moderate cytotoxicity. Herein, we report an innovative HA–thymol conjugate (HA-Thy) biomaterial to circumvent the drawbacks of free thymol use by providing the polymer conjugate with the beneficial properties of both components. Preliminary biological tests evidenced the decrease of thymol cytotoxicity for the HA-Thy conjugate, paired with a promising antibiofilm formation activity against Candida albicans, similar to pure thymol, highlighting its potential application as a preservative biomaterial in formulations

Ophthalmic manifestation in neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema, optical atrophy, motility disorders, pupil and lid dysfunction, and neurotrophic keratitis can be observed as indirect signs. An observational study was conducted with the aim to collect clinical data and describe the most frequent NF2 ocular manifestations. Fourteen patients affected by NF2, according to the Manchester criteria, were enrolled. All patients underwent complete ophthalmologic and orthoptic evaluation and a spectral domain optical coherence tomography. Ocular manifestations were present in all patients. The slit lamp evaluation of the anterior segment highlighted cataracts in five patients, keratitis in two patients, corneal leukoma in two patients, and corneal pannus in one patient. Fundus oculi and OCT evaluation identified epiretinal membranes in four patients, vitreoretinal tufts in three patients, optic nerve edema in one patient, and retinal hamartoma in one patient. Moreover, the orthoptic evaluation identified different types of ocular motility disorders in seven patients. This is a descriptive study of a rare disease with poor previous literature. Clinical data are shown, emphasizing the role of NF2-specific ophthalmological and orthoptic findings to help establish an early diagnosis

Phosphorylated AKT and MAPK expression in primary tumours and in corresponding metastases and clinical outcome in colorectal cancer patients receiving irinotecan-cetuximab

Clinical observations suggested that a non negligible proportion of patients, ranging from 40% to 70%, does not seem to benefit from the use of anti-EGFR targeted antibodies even in the absence of a mutation of the K- RAS gene. The EGFR pathway activation via the Ras-Raf-MAP-kinase and the protein-serine/threonine kinase AKT could determine resistance to anti-EGFR treatment.We tested the interaction between phosphorylated AKT and MAPK expression in colorectal tumours and corresponding metastases and global outcome in K-RAS wild type patients receiving irinotecan-cetuximab.Seventy-two patients with histologically proven metastatic colorectal cancer, treated with Irinotecan and Cetuximab based chemotherapy, were eligible for our analysis.In metastases pAKT correlated with RR (9% vs. 58%, p\u2009=\u20090.004), PFS (2.3 months vs. 9.2 months p\u2009<\u20090.0001) and OS (6.1 months vs. 26.7 months p\u2009<\u20090.0001) and pMAPK correlated with RR (10% vs. 47%, p\u2009=\u20090.002), PFS (2.3 months vs. 8.6 months p\u2009<\u20090.0001) and OS (7.8 months vs. 26 months p\u2009=\u20090.0004). At multivariate analysis pAKT and pMAPK in metastases were able to independently predict PFS. pAKT in metastases independently correlated with RR as wellpAKT and pMAPK expression in metastases may modulate the activity of EGFR-targeted antibodies. We could speculate that in patients with pAKT and pMAPK metastases expression targeting these factors may be crucial

Sequential monitoring of lymphocyte subsets and of T-and-B cell neogenesis indexes to identify time-varying immunologic profiles in relation to graft-versus-host disease and relapse after allogeneic stem cell transplantation

T and B lymphocyte subsets have been not univocally associated to Graft-versus-host disease (GVHD) and relapse of hematological alignancies after stem cell transplantation (SCT). Their sequential assessment together with B and T cell neogenesis indexes has been not thoroughly analysed in relation to these changing and interrelated immunologic/clinic events yet. Lymphocyte subsets in peripheral blood (PB) and B and T cell neogenesis indexes were analysed together at different time points in a prospective study of 50 patients. Principal component analysis (PCA) was used as first step of multivariate analysis to address issues related to a high number of variables versus a relatively low number of patients. Multivariate analysis was completed by Fine-Gray proportional hazard regression model. PCA identified 3 clusters of variables (PC1-3), which correlated with acute GVHD: PC1 (pre-SCT: KRECs 656608/ml, unswitched memory B 44%, CD8+TCM cells>4%; HR 1.9, p = 0.01), and PC3 (at aGVHD onset: CD4+TEMRA69%, switched memory CD19+ = 0 cells and KRECs<6614/ml at +90; HR 0.1, p = 0.008). All these immunologic parameters were independent indicators of chronic GVHD and relapse, also considering the possible effect of previous steroid-therapy for acute GVHD. Specific time-varying immunologic profiles were associated to GVHD and relapse. Pre-SCT host immune-microenvironment and changes of B cell homeostasis could influence GVH- and Graft-versus-Tumor reactions. The paradoxical increase of EM Treg in PB of patients with GVHD could be explained by their compartmentalization outside lymphoid tissues, which are of critical relevance for regulation of GVH reactions