Infants' sensitivity to emotional expressions in actions: The contributions of parental expressivity and motor experience.

Actions can convey information about the affective state of an actor. By the end of the first year, infants show sensitivity to such emotional information in actions. Here, we examined the mechanisms contributing to infants' developing sensitivity to emotional action kinematics. We hypothesized that this sensitivity might rely on two factors: a stable motor representation of the observed action to be able to detect deviations from how it would typically be performed and experience with emotional expressions. The sensitivity of 12- to 13-month-old infants to happy and angry emotional cues in a manual transport action was examined using facial EMG. Infants' own movements when performing an object transport task were assessed using optical motion capture. The infants' caregivers' emotional expressivity was measured using a questionnaire. Negative emotional expressivity of the primary caregiver was significantly related to infants' sensitivity to observed angry actions. There was no evidence for such an association with infants' own motor skill. Overall, our results show that infants' experience with emotions, measured as caregivers' emotional expressivity, may aid infants' discrimination of others' emotions expressed in action kinematics.

A rare association of celiac disease and rectal neuroendocrine tumor.

Celiac disease (CD) is a chronic immune-mediated enteropathy which is triggered by dietary gluten in genetically predisposed individuals. Increased risk of all gastrointestinal cancers was found during the first year after diagnosis of CD. Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are a heterogeneous tumor group originating from the diffuse neuroendocrine system. Today, the incidences of both GEP-NETs and CD have increased due to the increased availability of diagnostic tools and awareness. Association of GEP-NETs with CD is rarely seen. Here we aimed to present a case in which we diagnosed CD with concurrent rectal NET. Association of CD and rectal NET has not been reported in the literature, and we believe that our case report can contribute to the epidemiological data.

Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever.

Primary ciliary dyskinesia (PCD) is a rare disease, predominantly inherited as an autosomal recessive, with ciliary dysfunction leading to impaired mucociliary clearance, chronic airway infection and inflammation. Situs inversus totalis occurs in ~50 % of PCD patients and it is known as Kartagener syndome. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. FMF is caused by mutations in the MEFV gene which is located on chromosome 16p13.3. p.M680I, p.M694 V, p.M694I, p.V726A on exon 10 and p.E148Q on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all. Homozygosity of R202Q polymorphism is strongly associated with FMF. We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism. Our case is the first in the literature indicating the accidental coexistence of FMF and Kartagener syndrome.

Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report.

We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. Our patient is thought to be atypical MEN2B due to the absence of M918T or A883F mutations. Chilaiditi sign is an incidental radiographic finding of a usually asymptomatic condition in which a part of intestine is located between the liver and diaphragm; however, the term "Chilaiditi syndrome" is used for symptomatic hepatodiaphragmatic interposition. The patient had no symptoms as abdominal pain, constipation, diarrhea, or emesis. Incidentally, Chilaiditi sign was diagnosed with chest radiograph and thoracoabdominal CT. Our case is the first in the literature indicating the coexistence of Chilaiditi sign and MEN2B.

High density single-molecule-bead arrays for parallel single molecule force spectroscopy.

The assembly of a highly parallel force spectroscopy tool requires careful placement of single-molecule targets on the substrate and the deliberate manipulation of a multitude of force probes. Since the probe must approach the target biomolecule for covalent attachment, while avoiding irreversible adhesion to the substrate, the use of polymer microspheres as force probes to create the tethered bead array poses a problem. Therefore, the interactions between the force probe and the surface must be repulsive at very short distances (<5 nm) and attractive at long distances. To achieve this balance, the chemistry of the substrate, force probe, and solution must be tailored to control the probe-surface interactions. In addition to an appropriately designed chemistry, it is necessary to control the surface density of the target molecule in order to ensure that only one molecule is interrogated by a single force probe. We used gold-thiol chemistry to control both the substrate's surface chemistry and the spacing of the studied molecules, through binding of the thiol-terminated DNA and an inert thiol forming a blocking layer. For our single molecule array, we modeled the forces between the probe and the substrate using DLVO theory and measured their magnitude and direction with colloidal probe microscopy. The practicality of each system was tested using a probe binding assay to evaluate the proportion of the beads remaining adhered to the surface after application of force. We have translated the results specific for our system to general guiding principles for preparation of tethered bead arrays and demonstrated the ability of this system to produce a high yield of active force spectroscopy probes in a microwell substrate. This study outlines the characteristics of the chemistry needed to create such a force spectroscopy array.

Dielectrophoretic tweezers as a platform for molecular force spectroscopy in a highly parallel format.

We demonstrated the application of a simple electrode geometry for dielectrophoresis (DEP) on colloidal probes as a form of molecular force spectroscopy in a highly parallel format. The electric field between parallel plates is perturbed with dielectric microstructures, generating uniform DEP forces on colloidal probes in the range of several hundred piconewtons across a macroscopic sample area. We determined the approximate crossover frequency between negative and positive DEP using electrodes without dielectric microstructures-a simplification over standard experimental methods involving quadrupoles or optical trapping. 2D and 3D simulations of the electric field distributions validated the experimental behavior of several of our DEP tweezers geometries and provided insight into potential improvements. We applied the DEP tweezers to the stretching of a short DNA oligomer and detected its extension using total-internal reflection fluorescence microscopy. The combination of a simple cell fabrication, a uniform distribution of high axial forces, and a facile optical detection of our DEP tweezers makes this form of molecular force spectroscopy ideal for highly parallel detection of stretching or unbinding kinetics of biomolecules.