Abstract It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia ...without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine, hemiplegic migraine, and sleep disorders. Our study remarks on the typical features described in previous studies and stresses the uncommon aspects that could help to identify the disorder which is likely to have been underestimated. Despite some clinical similarities between BNAHC and familiar hemiplegic migraine and alternating hemiplegia of childhood, the genetic analyses of our patient did not reveal genetic mutations found in both disorders.
Postural balance is an important but not well-studied concept in the treatment of adolescent scoliosis. The aim of this study was to assess whether conservative treatment with Sforzesco bracing ...induced negative perturbations on postural stability, as related to static, postural, and dynamic baropodometric indicators. Twelve subjects (12 females, aged 11−16) with moderate AIS, were selected among a group of 97 patients. Inclusion criteria were: (1) confirmed diagnosis of moderate AIS (Cobb angle of 21° to 35° for the primary curve); (2) thoracic or thoracolumbar primary curve; (3) skeletal immaturity with growth cartilage visible on pretreatment radiographs (Risser < 5); (4) chronological age between 11 and 16 years; and (5) Sforzesco bracing treatment. All patients underwent a physical examination and radiological measurements with anteroposterior and lateral scans. Static, postural, and dynamic assessments were performed twice by barefoot patients, with and without Sforzesco bracing. Comparison between demographic, anthropometric, and clinical data highlighted a homogeneity of the sample. We evaluated the point of maximum pressure with and without bracing and found no statistically significant differences (p value = 0.22). In postural measurements, the laterolateral oscillations, anteroposterior oscillations, and average speed of oscillations were evaluated, comparing measurements with and without bracing. There were no statistically significant differences, except for the mean rate of oscillation, which was slightly increased in the recordings with a brace compared to those without a brace, p value = 0.045. Our findings show no statistically significant differences (p > 0.05) in static, postural, and dynamic baropodometric indicators.
ABSTRACT
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30‐genes panel and a 95‐genes panel in ...349 patients with drug‐resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients, epilepsy onset occurred before the age of 6 months. The 95‐genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30‐gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty‐nine mutations were identified in 23 additional genes, most of them recently associated with epilepsy. Our data show that panels targeting about 100 genes represent the best cost‐effective diagnostic option in pediatric drug‐resistant epilepsies. They enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype–genotype correlations. Molecular diagnosis might influence patients' management and translate into better and specific treatment recommendations in some conditions.
Next Generation Sequencing (NGS) gene panels represent a cost‐effective diagnostic option in pediatric drug‐resistant epilepsies. Carefully and frequently updated gene panels, comprehensive of both well‐known and rare epilepsy associated genes, enable molecular diagnosis of atypical phenotypes, broadening genotype‐phenotype correlations. Using NGS gene panels in the clinical diagnostic setting helps clinicians improving management, avoiding numerous investigations including invasive procedures, prognostication, guiding treatment choices in some cases, and providing appropriate genetic counselling to families.
To evaluate the reasons for inadequate adherence to osteoporosis therapy and to describe the strategies for improving adherence to and persistence with regular medications, we conducted a review of ...the literature. The primary outcome of the study was the determination of the factors adverse to the onset and maintenance of anti-osteoporosis therapies. Secondly, we focused on studies whose efforts led to finding different strategies to improve adherence and persistence. We identified a total of 26 articles. The most recurrent and significant factors identified were aging, polypharmacy, and smoking habits. Different strategies to guide patients in their osteoporosis care have been identified, such as monitoring and follow-up via telephone calls, email, and promotional meetings, and proactive care interventions such as medication monitoring, post-fracture care programs, and decision aids. Changes in the drugs regimen and dispensation are strategies tried to lead to better adherence and persistence, but also improved satisfaction of patients undergoing anti-osteoporosis treatment. Patient involvement is an important factor to increase medication persistence while using a flexible drugs regimen.
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, ...gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes
,
,
,
or, rarely,
, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype-phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment for CFC syndrome. Encouraging zebrafish model system studies suggested that, in the future, MEK inhibitors could be a suitable treatment of progressive phenotypes of CFC in children. A multidisciplinary care is necessary for appropriate medical management.
Polymers of intrinsic microporosity represent one of the most promising polymeric materials for gas separation applications. Their very rigid and contorted backbone induces unusually high free ...volumes and high internal surface area, with high gas permeabilities and moderate ideal selectivity, especially for O2/N2 and CO2/N2 pairs with values lying above Robeson’s upper bound. However, the high FFV of PIM1 tends to be short-lived, soon collapsing to leave fewer transport pathways and reduce gas permeability. One way to tackle this problem is the addition of fillers within the polymeric matrix. Here we report the use of synthetic clays named saponites as fillers to slow down the physical aging of PIM1 membranes. Mixed matrix membranes (MMMs) based on two different saponite samples (one completely inorganic and one functionalized with a surfactant) have been obtained, and their permeation performances have been studied in the course of one year to explore physical aging effects over time. Without filler, PIM1 exhibits the classical aging behavior of polymers of intrinsic microporosity, namely, a progressive decline in gas permeation. On the contrary, with saponites, MMMs present a plateau after 1 week within the aging showing that the fillers slow down the aging of PIM1 membranes in the long term. After one year of aging, the total reduction for CO2 permeability for native PIM1 was 80%, whereas for the MMMs it was 53% and 59% for the inorganic and the functionalized saponite, respectively. Interactions between the fillers and the polymeric matrix in addition to aging effects have been also monitored through SS-NMR spectroscopy. The 13C spin–lattice relaxation time (T 1) measurements reveal that PIM1 chains intercalation between T–O–T lamellar sheets could be one of the mechanisms responsible for PIM1 slowing down aging. Chains confinement between lamellar sheets could play a significant role in reducing the densification of chains, while maintaining small free volumes.
Mindfulness is one of the most popular psychotherapeutic techniques that help to promote good mental and physical health. Combining mindfulness with immersive virtual reality (VR) has been proven to ...be especially effective for a wide range of mood disorders for which traditional mindfulness has proven valuable. However, the vast majority of immersive VR-enhanced mindfulness applications have focused on clinical settings, with little evidence on healthy subjects. This narrative review evaluates the real effectiveness of state-of-the-art mindfulness interventions mediated by VR systems in influencing mood and physiological status in non-clinical populations. Only studies with an RCT study design were considered. We conclude that most studies were characterized by one single meditation experience, which seemed sufficient to induce a significant reduction in negative mood states (anxiety, anger, depression, tension) combined with increased mindfulness skills. However, physiological correlates of mindfulness practices have scarcely been investigated. The application of VR-enhanced mindfulness-based interventions in non-clinical populations is in its infancy since most studies have several limitations, such as the poor employment of the RCT study design, the lack of physiological measurements (i.e., heart rate variability), as well as the high heterogeneity in demographical data, technological devices, and VR procedures. We thus concluded that before applying mindfulness interventions mediated by VR in clinical populations, more robust and reliable methodological procedures need to be defined.
An optimized Friedel–Crafts based methodology used to prepare high surface area and pore volume hyper-cross-linked polymers (HCPs) is presented here. A significant reduction in catalyst quantities ...resulted in an HCP showing SSABET of 905 m2/g and total pore volume of ≈1.12 cm3/g. Spectroscopic investigations (DR-FTIR and SS-NMR) reveal that lowering the amount of catalyst avoid uncontrolled reaction pathways. For the optimized material, CO2 uptakes are 2.55 mmol/g at 273 K and 1 bar. High pressure measurements at 298 K resulted in the uptake of 7.33 mmol/g of CO2 at 24 bar and 3.84 mmol/g of CH4 at 42 bar.
Abstract Only rarely, it is possible to find in the literature histological reports of human retrieved implants, especially after several years of functional loading. These implants can help us in ...understanding the reactions of peri-implant bone. The aim of this study was to perform a histologic and histomorphometric analysis of the peri-implant tissues behavior and of the bone-titanium interface in titanium dental implants retrieved from patients after time periods longer than 5 years. The archives of the Implant Retrieval Center of the Dental School of the University of Chieti-Pescara, Italy were searched for human dental implants, retrieved after a loading period of more than 5 years. A total of 8 implants were found: 3 of these had been retrieved after 5 years, 1 after 6 years, one after 10 years, 1 after 14 years, 1 after 18 years, 1 after 22 years. Only the bone to implant contact in the three best threads was evaluated. Compact, mature, lamellar bone, with few and small marrow spaces, was present around the implants. Osteons with Haversian canals were present inside some threads, in close proximity to the interface, at both cortical and trabecular regions. Other osteons had a direction perpendicular to the direction of the long axis of the implants. Numerous reversal lines were present. At higher magnification, no gaps or fibrous, connective tissues were present at the interface. The BIC of the three best threads for all implants varied from 94 to 100%. In conclusion, within the limitations of the present report histology showed that implants with different surfaces all presented the potential to maintain osseointegration over a long period, with a continuous remodeling at the interface, as indicated by the presence of reversal lines.
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