Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

Mutations in the components of the SWItch/sucrose nonfermentable (SWI/SNF)-like chromatin remodeling complex have recently been reported to cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and ARID1B-related intellectual disability (ID) syndrome. We detail here the genotype-phenotype correlations for 85 previously published and one additional patient with mutations in the SWI/SNF complex: four with SMARCB1 mutations, seven with SMARCA4 mutations, 37 with SMARCA2 mutations, one with an SMARCE1 mutation, three with ARID1A mutations, and 33 with ARID1B mutations. The mutations were associated with syndromic ID and speech impairment (severe/profound in SMARCB1, SMARCE1, and ARID1A mutations; variable in SMARCA4, SMARCA2, and ARID1B mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. SMARCB1 mutations caused "classical" CSS with typical facial "coarseness" and significant digital/nail hypoplasia. SMARCA4 mutations caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. SMARCA2 mutations caused NCBRS, typically with short stature, sparse hair, a thin vermillion of the upper lip, an everted lower lip and prominent finger joints. A SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. ARID1A mutations caused the most severe CSS with severe physical complications. ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID. Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as "SWI/SNF-related ID syndromes".

Formation of W/O emulsion using hydrophilic nanoparticles by three-phase emulsification and its energetic analysis.

In this study, we investigated the characteristics of water-in-oil (W/O) emulsions formed by hydrophilic nanoparticles in three-phase emulsification and discussed their stability by performing an energy analysis. W/O emulsions prepared using the three-phase emulsification method are stable in several systems, even in those with a high internal-phase ratio of water up to 85 wt%. Hydrophilic nanoparticles can exist in the internal water phase independently, and the emulsifying action does not depend on the concentration of nanoparticles or the state of the internal water phase. The energy analysis of the model, in which nanoparticles partially penetrate from the aqueous phase to the oil phase, suggests that hydrophilic nanoparticles can form W/O emulsions. It was also found that the entropy change based on the hydrophobic hydration around the nanoparticles was the main driving force for the nanoparticles to partially penetrate the oil phase.

Efficacy of an Algorithm-Based Nursing Intervention to Promote a Balance Between Cancer Patients' Social Roles and Outpatient Treatment: A Quasi-Experimental Study.

BACKGROUND: Cancer patients undergoing treatment are often unable to balance treatment and work because of the time required for care at the hospital and a desire to avoid problems at work. OBJECTIVE: The aim of this study was to elucidate the efficacy of an algorithm-based nursing intervention (ANI) to promote balance between social roles and outpatient treatment in cancer patients. METHODS: Participants were outpatients receiving cancer therapy and randomly assigned to a control or an intervention group, the latter to receive ANI for 2 months. The outcomes were assessed using the Distress and Impact Thermometer and changes in employment status. Data from 54 evaluable participants in each group were analyzed. RESULTS: Distress and Impact Thermometer scores in the intervention group were significantly lower than those in the control group ( P < .001). In addition, 2 months later, 20 participants had resigned from their employment or were on leave in the control group (37.0%); this was twice the number in the intervention group, a significant difference ( χ2 = 4.573, P < .05). Logistic regression analysis showed that the odds ratio in the control group was 3.6 times that of the intervention group of having resigned. CONCLUSION: The ANI appears to have reduced distress and impact scores associated with the course of treatment and to have reduced the likelihood of resignations at 2 months after implementation. IMPLICATIONS FOR PRACTICE: The intervention appears to be effective and may be a new tool for use by outpatient oncology nurses.

Fundamental Differences in Emulsification Principle between Three-phase Emulsification and Conventional Methods.

The present study investigates the principle difference between three-phase emulsification and conventional emulsification methods (surfactant emulsification and the Pickering method). Conventional emulsification methods depend on intensive factors such as interfacial tension and wetting. In the proposed three-phase emulsification, soft hydrophilic nanoparticles adhere to the oil-water interface due to the van der Waals attraction and stabilize the emulsion. Therefore, it can be said that three-phase emulsification is "extensive emulsification" based on the mass of the hydrophilic nanoparticles and oil droplets. Extensive emulsification is irreversible because the van der Waals attraction acts between the particles unless the mass of the soft hydrophilic nanoparticles and oil droplets changes. The differences between three-phase emulsification and conventional emulsification methods were experimentally verified by comparing the difference in the stability of the emulsions resulting from the change in intensive factors, where the internal phase oil transitioned from solid to liquid. The emulsions prepared using the surfactant and Pickering methods were separated into oil and water by the solid-liquid phase transition of hexadecane in the internal oil phase. However, the emulsion prepared using three-phase emulsification maintained its emulsified state without any oil-water separation even when the internal oil phase underwent solid-liquid phase transition. From the results obtained, it can be concluded that three-phase emulsification is an irreversible method because its mechanism is based on extensive factors. Furthermore, this irreversible method allows the emulsification of various oils that cannot be emulsified by conventional methods, and it is also possible to directly mix emulsions prepared with different oils. The authors also call attention to the possibility of improving emulsion characters and new developments in emulsion science.

A Preferable Method for the Formation of Vesicles from Lamellar Liquid Crystals Using Chemical Additives.

We present a method for vesicle formation from lamellar liquid crystals (LCs) using a cationic amphiphilic substance, namely 2-hydroxyethyl di(alkanol)oxyethyl methylammonium methylsulfate (DEAE). Vesicle formation from the DEAE lamellar dispersion occurred via a two-step chemical addition. This method required neither additional mechanical energy nor the use of special solvents. The transition was solubilized using an organic substance (e.g., limonene) in the lamellar DEAE LC, after which, a small amount of inorganic salt was added to the solubilized lamellar LC dispersion with gentle stirring. The viscosity of the DEAE dispersion following salt addition decreased sharply from 105 mPa·s to 102 mPa·s, and the DEAE dispersion was converted into a high fluidity liquid. Several organic substances were examined as potential solubilizates to initiate the lamellar-vesicle transition. Inorganic salts were also examined as transition triggers using various types of electrolytes; only neutral salts were effective as trigger additives. Dissociation of inorganic salts yielded anions, which inserted between the DEAE bilayer membranes and induced OH- ion exchange. In addition, a number of cations simultaneously formed ion pairs with the DEAE counter ions (CH3SO4- ions). However, as the amount of solubilized organic substances in the DEAE bilayer membrane decreased over time, the vesicles were transformed into lamellar LCs once again. The DEAE states in each step were measured by monitoring the zeta potential, pH, viscosity, and by examination of scanning electron microscopy and atomic force microscopy images. A possible molecular mechanism for the lamellar-vesicle transition of DEAE was proposed.

Thermodynamic Analysis of the Transition of Liquid Crystals from Lamellar to Vesicular Phase.

Here, we report the results of thermodynamic analyses on the lamellar-vesicular transition for a cationic amphiphilic species, namely 2-hydroxyethyl di(alkanol)oxyethyl methylammonium methylsulfate (DEAE). Previously, we have shown that spontaneous vesicle formation from a Lα-lamellar liquid crystal (LC) phase only occurs on the addition of a quantitative amount of additives to the DEAE LC at certain temperatures and that this change occurs without the input of any extra mechanical energy. These lamellar-vesicular transitions occur in two steps: the first step is the formation of an excited state, caused by the solubilization of organic substances in the bilayer structure. The second step, induced by the addition of a small amount of inorganic salt to the excited LC state, is the transition from lamellar to vesicular phase. From our experimental data, the change in the Gibbs free energy was estimated by assuming an ideal electrical chemical potential. As a result, the thermodynamic parameters at 303 K for the lamellar-vesicular transition from the initial state (lamellar) to the final state (vesicle) were found to be approximately -2.7 kJ/mol for the Gibbs free energy, -14.6 kJ/mol for the enthalpy change, and -11.9 kJ/mol for the entropy change. Each state change was due to structural changes not only in the LC bilayers but also in the hydration structure of the surrounding water. Moreover, the most significant finding is that the free energy change in lamellar-vesicular transition is negative, which may be explained based on the stabilization of solubilized vesicles with respect to the unsolubilized lamellar phases.

Adsorption of the Three-phase Emulsion on Various Solid Surfaces.

The present study investigates the adsorption of the three-phase emulsion on various solid/water interfaces. Vesicles can be used as emulsifiers in the three-phase emulsions and act as an independent phase unlike the surfactant used in conventional emulsions; therefore, it is expected that the three-phase emulsion formed by the adhesion of vesicles to the oil/water interface will adsorb on various solid/water interfaces. The cationic three-phase emulsion was prepared to encourage emulsion adsorption on negatively charged solid substrates in water. The emulsifier polyoxyethylene-(10) hydrogenated castor oil was rendered cationic by mixing with the surfactant cetyltrimethylammonium bromide and then used to prepare the cationic three-phase emulsion of hexadecane-in-water. Three solid substrates (silicon, glass, and copper) were dipped in the cationic emulsion and the emulsion was found to adsorb on the solid substrates while maintaining its structure. The amount of hexadecane adsorbed on the various surfaces was investigated by gas chromatography and found to increase with increasing hexadecane concentration in the emulsion and eventually plateaued just like molecular adsorption. The maximum surface coverage of the emulsion on the substrates was approximately 80%. However, even the equivalent nonionic three-phase emulsion was found to adsorb on the three solid surfaces. This was attributed to a novel mechanism of irreversible adhesion via the van der Waals attractive force.

Electron transfer mechanism of cytochrome c at the oil/water interface as a biomembrane model.

The electron transfer (ET) between cytochrome c (Cyt c) in water (W) and 1,1'-dimethylferrocene (DiMFc) in 1,2-dichloroethane (DCE) was studied. The cyclic voltammograms obtained for the interfacial ET under various conditions could be well reproduced by digital simulation based on the ion-transfer (IT) mechanism, in which the ET process occurs not at the DCE/W interface but in the W phase nearest the interface. In this mechanism, the current signal is due to the IT of DiMFc(+) as the reaction product. On the other hand, the measurement of the double-layer capacity showed that Cyt c is adsorbed at the DCE/W interface. However, the contribution from the adsorbed proteins to the overall ET is considered to be small because of the thicker reaction layer in the IT mechanism. These findings would offer a useful suggestion for the behaviors of Cyt c in vivo.

A case of bulbar type cerebral palsy: representative symptoms of dorsal brainstem syndrome.

In this study, we present the case of a 2-year-old boy who exhibited facial and bulbar paralysis since birth, severe dysphagia, signs of oculomotor disturbance, jaw jerks, pyramidal signs on both toes, intellectual disability, and severe gastroesophageal reflux. His blink reflex and auditory/somatosensory evoked potentials suggested abnormalities in the lower brainstem, and magnetic resonance imaging showed a T2 hyperintense area in the pontine tegmentum. These findings combined with the patient's symptoms suggested "dorsal brainstem syndrome" and indicated a possibility of prenatal asphyxia in this patient. Nosologic issues regarding this subgroup of cerebral palsy are discussed here.

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.

Supuramolecular structure of self-assembly fabricated with novel aromatic polyether on Si-wafers.

A new synthetic polymer of aromatic polyether (APE), having a narrow distribution of molecular weight, formed a specific self-assembly of Langmuir film (L film) on a water surface, which was subjected to surface pressure relaxation when the L film was compressed over 16.5 mN m(-1) at 15 degrees C. This self-assembly was capable of transferring on silicon-wafers as LB films. We found that, because the XRD patterns for fabricated LB films depended on the crystal face of the silicon-wafer used and moreover increased in diffraction intensity with the increasing number of built-up layers in the LB film, the present LB films showed a kind of epitaxy-like phenomenon. We propose the molecular mechanism explaining that the formation of an ionic supuramolecular structure of APE occurs only on a silicon wafer surface.

Prevalence of coronary artery abnormality in incomplete Kawasaki disease.

BACKGROUND: The aim of the present study was to determine the prevalence of coronary artery abnormality (CAA) and other clinical features in patients with incomplete Kawasaki disease (iKD) using the data from the 17th Japanese nationwide survey of KD. METHODS: iKD was defined as the presence of four or fewer of the principal symptoms of the Japanese diagnostic guidelines, regardless of whether the patient had CAA. A total of 15,857 cases were analyzed. RESULTS: Among 15,857 cases, 83.9% of patients had five to six principal symptoms (complete KD: cKD), and 16.1% had iKD. The prevalence of CAA in cKD was 14.2%, and 18.4% in iKD. The prevalence of CAA in patients with four principal symptoms was 18.1%, which was higher than in cKD cases (14.2%). Although the reliability of the data has some limitations, the prevalence of CAA among patients with one to three symptoms was 19.3%. Among all CAA patients, 14% had four symptoms, and 6% had only one to three symptoms. CONCLUSION: Incomplete KD should not be equated with mild KD. Patients with four principal symptoms were comparable to cKD with respect to CAA occurrence. In patients with one to three symptoms also, especially in those under 1 year and older than 4 years of age, other significant symptoms and laboratory findings of the guidelines are very important in making a correct and early diagnosis of iKD so as to prevent CAA.