Transitional Care for Young People with Neurological Disorders: A Scoping Review with A Focus on Patients with Movement Disorders

Childhood-onset movement disorders represent a heterogenous group of conditions. Given the complexity of these disorders, the transition of care from pediatric to adult medicine is an important consideration. We performed a scoping review of the literature on transitional care in chronic neurological disease, exploring key transitional issues and proposed transitional care models. Our aim was to describe the current knowledge and gaps about the transition process of young adults with chronic neurological disorders, paying special attention to childhood onset movement disorders. A total of 64 articles were included in the qualitative synthesis; 56 articles reported on transitional care issues, and 8 articles reported on transitional care models. Only 2 articles included patients with movement disorders. The following 4 main transitional issues were identified following synthesis of the available literature: (1) inadequate preparation for the transition process, (2) inappropriate and inconsistent transition practices, (3) inadequate adult services, and (4) heightened emotional response surrounding transition. Of the reported transitional care models, multidisciplinary ambulatory care was the most common approach. In studies evaluating patient-related outcomes, positive health, educational, and vocational outcomes were found. The available literature provides insights on issues that can arise during transition that should be addressed to improve patient and caregiver comfort and satisfaction with care. Further research is needed to evaluate how transitional care programs affect outcomes and their cost effectiveness. More studies are required to determine the needs and outcomes specific to patients with childhood onset movement disorders. © 2020 International Parkinson and Movement Disorder Society     

Nerve stimulator for regional anaesthesia procedures with automatic interactive closed-loop control

Abstract

Peripheral nerve stimulators have widespread among anaesthesiologists and remain a popular technique. However, in commercial devices, the user has to manually adjust stimulus intensity. Thus, the aim of this study is to propose a method that allows automating the current intensity control. An earlier nerve stimulator prototype was modified to add an accelerometer and an sEMG module. The choice of these two sensors is aimed at the possibility of observing the mechanical and electrical responses of the muscle contraction evoked by the stimulation. The tests were performed in two steps. The first step was to observe how the sensors behave during stimulation and muscle contraction. The second step was to implement a control algorithm and to validate the automation technique. Comparing the two methods, no significant differences were found on procedure time (manual: 12.5?±?2.3; automatic: 11.6?±?1.9; ρ?=0.380) and blockade latency time (manual: 11.6?±?1.1; automatic: 11.9?±?1.2; ρ?=0.524). Comparing needle-nerve distance in manual or automatic mode, no significant differences were found for 1.0?mA, 0.8?mA, 0.5?mA and 0.3?mA. We conclude that the technique for automating the current intensity update, using accelerometer and/or electromyography, is satisfactory. Furthermore, we conclude that the use of the accelerometer alone is sufficient for detection of muscle contraction.     

Evaluation of the prognostic potential of EGFL7 in pilocytic astrocytomas

Pilocytic astrocytoma (PA) is the most frequent solid neoplasm in childhood. It has a good 5‐year overall survival (90% in childhood and 52% in adults). However, up to 20% of patients experience residual tumor growth, recurrence, and death. Although the main genetic alteration of PAs, including KIAA1549:BRAF fusion, involves chromosome 7q34, we previously found frequent loss in chr9q34.3 locus in a small subset of these tumors. Among the genes present in this locus, EGFL7 is related to poor prognosis in several tumor types. In this study, we aimed to assess EGFL7 expression through immunohistochemistry, and to evaluate its prognostic value in a series of 64 clinically and molecularly well‐characterized pilocytic astrocytomas. We found high expression of EGFL7 in 71.9% of patients. Low EGFL7 expression was associated with older patients, the mean age mainly older than 11 years (P = 0.027). EGFL7 expression was not associated with presence of KIAA1549:BRAF fusion, BRAF mutation, FGFR1 mutation, nor FGFR1 duplication. Moreover, high EGFL7 expression was associated with high FGFR1 (P = 0.037) and 5′‐deoxy‐5′‐methyltioadenosine phosphorylase (MTAP) (P = 0.005) expression, and with unfavorable outcome of patients (P = 0.047). Multivariate analysis revealed low EGFL7 expression related to older patients and high EGFL7 expression related to retained expression of MTAP. In addition, we found a borderline significance of unfavorable outcome and high EGFL7 expression. Finally, EGFL7 expression was not associated with overall or event‐free survival of PA patients. Our findings point to EGFL7 expression as a novel candidate prognostic marker in PA, which should be further investigated.     

Cross-cultural validation of the Patient–Practitioner Orientation Scale (PPOS)

Objectives

Translate, adapt and validate the Patient–Practitioner Orientation Scale (PPOS) for use in Brazil.

Methods

The PPOS was translated to Portuguese using a modified Delphi technique. The final version was applied to 360 participants. Reliability (test–retest and internal consistency) and construct validity (explanatory and confirmatory factor analysis) were assessed.

Results

Only two items did not reach pre-established criteria agreement in Delphi technique. In pre-testing, seven items were modified. Internal consistency (Cronbach's alpha = 0.605) and test–retest reliability (intraclass correlation coefficient = 0.670) were adequate. In explanatory factor analysis, one item did not achieve a loading factor, one item was considered factorially complex and two items were inconsistent with a priori factors. Confirmatory factor analysis provided an acceptable adjustment for the observed variables (χ²/df = 2.33; GFI = 0.91; AGFI = 0.89; CFI = 0.84; NFI = 0.75; NNFI = 0.81; RMSEA = 0.062 (p = 0.016) and SRMR = 0.065).

Conclusions

The Brazilian version PPOS (B-PPOS) showed acceptable validity and adequate reliability.

Practice implications

The use of the B-PPOS in national and cross-cultural studies may contribute to the evaluation and monitoring of the attitudes of doctors, medical students and patients toward their professional relationships in research and practice.     

Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations

Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss of motor units in later-onset SMA patients. Twenty SMA patients (SMA types 3 and 4), aged between 7 and 41 years, were clinically evaluated through the Hammersmith Motor Functional Scale Expanded and the Spinal Muscular Atrophy-Functional Rating Scale. The patients underwent compound motor action potential (CMAP) and MUNIX studies of the right abductor pollicis brevis, abductor digiti minimi and tibialis anterior (TA) muscles. Age-matched healthy controls (n = 20) were enrolled to obtain normative CMAP and MUNIX values from the same muscles. Compared to healthy controls, SMA patients showed significant reductions in MUNIX values among all muscles studied, whereas CMAP showed reductions only in the weaker muscles (abductor digiti minimi and TA). MUNIX variability was significantly higher in the SMA group than in the control group. MUNIX variability in TA correlated with CMAP variability. Motor functional scores correlated with TA MUNIX. The MUNIX study is feasible in later-onset SMA patients, and TA MUNIX values correlate with disease severity in patients with mild motor impairment.     

Early gallbladder carcinoma has a favorable outcome but Rokitansky–Aschoff sinus involvement is an adverse prognostic factor

The general impression about gallbladder carcinomas is that they are uniformly fatal; however, for the early forms, an entirely different picture indicating a very good prognosis is evolving from the high-incidence regions. We subjected 190 early gallbladder carcinomas (EGBC), defined as carcinomas confined to and above the tunica muscularis (AJCC's Tis, T1a, and T1b), and identified in cholecystectomy specimens sampled entirely according to an established protocol, to detailed analysis. Average patient age was 57.9 years (29–95). In more than half of the cases (114/190; 60 %), the tumor was inapparent by gross examination. In 81 cases (42.6 %), carcinomatous epithelium abutted the muscularis, whereas 57.4 % (n?=?109) were qualified as intramucosal with no overt contiguity with muscularis. Intraepithelial extension into Rokitansky–Aschoff sinuses (RAS) was found in 34 cases (17.8 %). At the time of data analysis, 171 patients (99 %) were alive. Overall actuarial survival was 92.3 % at 5 years and 90.4 % at 10 years. The 5- and 10-year actuarial survival rates of the intramucosal group (93.2 and 92.1 %, respectively) were not statistically different from that of the muscle-abutting group (89.7 % and 88.2 % ; p?=?0.334). Patients with RAS involvement had a significantly shorter survival than those without (p?<?0.001). Of the 33 patients with RAS involvement, 13 (39 %) died of disease, whereas only 6 of the 154 patients (4 %) without RAS involvement died of disease. Disease-related mortality in these cases occurred relatively late (median 48 months). EGBC has a very good prognosis with a 90 % 10-year survival rate. It is seen on average in patients almost a decade younger than those with advanced cancers. RAS involvement is an independent prognostic factor, and additional surgery may have to be considered for such cases. Occasional recurrences are encountered several years later, which suggests a field-effect phenomenon and warrants long-term follow-up.     

Phylogeography of rabies virus isolated from herbivores and bats in the Espírito Santo State, Brazil

Rabies is enzootic in the State of Espírito Santo, Brazil. Every year, cattle and horses die from rabies that is transmitted by the vampire bat Desmodus rotundus. This paper describes the spread of the rabies virus by the continuous diffusion model using relaxed random walks with BEAST software. Forty-one (41) sequences of gene G from the rabies virus that was isolated from bats and domestic herbivores from several areas of the state between 2006 and 2010 were analyzed. The phylogenetic tree showed three main clusters as well as two sub-clusters under cluster 2. A spatial analysis showed that three strains of the rabies virus spread independently. In general, central Espírito Santo, which is mountainous, was the area where separation of the virus strains occurred. This physical barrier, however, was overcome at some point in time, as samples from different lineages were found in the same microarea.     

Naegleria fowleri glycoconjugates with residues of α-d-mannose are involved in adherence of trophozoites to mouse nasal mucosa

We analyzed the possible role of glycoconjugates containing α-d-mannose and α-d-glucose residues in adherence of trophozoites to mouse nasal epithelium. Trophozoites incubated with 20 μg of one of three different lectins which preferentially recognized these residues were inoculated intranasally in Balb/c mice. Mouse survival was 40 % with Pisum sativum and Canavalia ensiformis and 20 % with Galanthus nivalis amebic pretreatment, compared with 0 % survival for control animals administered trophozoites without pretreatment. Possibly some of the glycoproteins found in Naegleria fowleri represent an adherence factor. Differences in the saccharide sequences of the Naegleria species, even on the same glycoconjugate structure, could explain the different results corresponding to the distinct pretreatments (C. ensiformis, G. nivalis, and P. sativum). We found a higher expression of glycoconjugates recognized by P. sativum in Naegleria lovaniensis than N. fowleri, probably due to the higher number of oligosaccharides containing an α-1,6-linked fucose moiety expressed on the former species.     

Ultrastructure of the intrauterine eggs of the microphallid trematode Maritrema feliui: evidence of early embryonic development

Intrauterine embryonic development in the microphallid trematode Maritrema feliui is examined by means of transmission electron microscopy. Both fertilization and eggshell formation take place in the ootype. The eggshell is formed from a shell globule material derived from the vitelline cells combined with secretions of Mehlis' gland. The proximal uterus is packed with unembryonated eggs of the oligolecithal type, each composed of a fertilized oocyte and several vitelline cells, all surrounded by the shell. Intrauterine embryonic development of the egg is followed to the early stage of outer embryonic envelope formation, resulting in an embryo of ~20 blastomeres of three different types: macromeres, mesomeres and micromeres. The first equal cleavage division of the zygote produces two macromeres. The outer envelope is of cellular origin and formed by the cytoplasmic fusion of two macromeres, which become situated at opposite poles in the peripheral layer of the embryo just beneath the eggshell. Simultaneously, other blastomeres multiply and differentiate, whereas several micromeres exhibit clear signs of degeneration or apoptosis. These results show that the embryonic development of M. feliui starts in utero and represents an example of early stage ovoviviparity. A reduction in the number of blastomeres results from a continued degeneration of micromeres, which after autolysis and re-absorption, appear to represent an important source of nutritive reserves for the embryo. The embryonic development of this digenean is discussed in relation to its life cycle.