A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation

ABSTRACT

Neuroimaging and genomic analysis greatly aid in the identification of young-onset dementia antemortem. We present the case of a 33-year-old female with a 2-year rapid decline to dementia and immobility marked by personality change, executive deficits including compulsions, attention deficit, apraxia, Parkinsonism, and pyramidal signs. She had unique and dramatic calcifications and confluent white matter changes on imaging and was found to have a novel mutation in the colony stimulating factor 1 receptor gene causing adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Here, we review ALSP and briefly discuss differential diagnoses.     

Quality of Depression among Suicidal Inpatient Youth

This study examined the relationship between suicidality and dependent and self-critical depression among adolescents. Ninety-six adolescents participated: 32 suicidal inpatients, 32 nonsuicidal inpatients and 32 healthy controls. The groups were matched for gender, age and education. Participants completed the Depressive Experience Questionnaire for Adolescents (DEQ-A), the Cognition Checklist (CCL), and the Multi-Attitude Suicidal Tendencies Scale (MAST). Results indicated that suicidal adolescents have significantly higher levels of self-critical and dependent depression, compared to nonsuicidal inpatients and healthy controls. The distinctive quality of depression among suicidal adolescents suggests assessment and treatment strategies for these individuals.     

Consensus Paper: Current Views on the Role of Cerebellar Interpositus Nucleus in Movement Control and Emotion

In the present paper, we examine the role of the cerebellar interpositus nucleus (IN) in motor and non-motor domains. Recent findings are considered, and we share the following conclusions: IN as part of the olivo-cortico-nuclear microcircuit is involved in providing powerful timing signals important in coordinating limb movements; IN could participate in the timing and performance of ongoing conditioned responses rather than the generation and/or initiation of such responses; IN is involved in the control of reflexive and voluntary movements in a task- and effector system-dependent fashion, including hand movements and associated upper limb adjustments, for quick effective actions; IN develops internal models for dynamic interactions of the motor system with the external environment for anticipatory control of movement; and IN plays a significant role in the modulation of autonomic and emotional functions.     

A Comparison of Two Methods in Acquiring Stimulus–Response Curves with Transcranial Magnetic Stimulation

BackgroundThe stimulus–response (S–R) curve is a well accepted constituent in transcranial magnetic stimulation (TMS) studies. However, it has been suggested that parameters of the S–R curve differ when stimuli are provided in a “ramped” (measured steps from low to high intensity), or “random” fashion.HypothesisWe hypothesized that there would be no difference in the parameters of the S–R curve between either methodologies.MethodsUsing a randomised cross-over design, 10 healthy participants (29.6 ± 6.4 yrs, 3 f) completed “ramped” or “random” curves in biceps brachii (BB) and first dorsal interosseous (FDI) muscles of both limbs. Curves were compared using mixed-factor ANOVA and correlated between limbs and methodologies.ResultsNo differences (P > 0.05) and high correlations (range 0.71–0.97; P < 0.001) were observed in BB and FDI data between curves.ConclusionsThis study demonstrated that either methodology provides similar parameters of the S–R curve in healthy participants.     

Recognizing syntactic errors in Chinese and English sentences: Brain electrical activity in Asperger's syndrome

This study investigates electroencephalographic (EEG) oscillatory activity in the brain for bilingual participants with Asperger's syndrome (AS) and bilingual healthy control participants during visual recognition of syntactic errors in traditional Mandarin Chinese (native) and English (foreign) sentences. Reading performance is similar for the two groups in both languages. While reading Mandarin Chinese, the control group showed a left-hemispheric specialization within the 400–600 ms interval in delta synchronization. However, delta synchronizations were widely distributed in all scalp regions and lasted longer than 600 ms in the AS group. One possible interpretation of our data is the hypothesis that the AS group has more difficulty in brain organization of semantic and syntactic processes than the control group when reading their native language, because Chinese syntactic structure requires more work to be done by the perceiver. Nevertheless, other brain mechanisms (e.g., top-down regulation), can partially compensate for this difficulty, allowing AS subjects to attain the same level of response activity as the controls.     

Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency. © 2013 Wiley Periodicals, Inc.     

Examining Perceived Stereotype Threat among Overweight/Obese Adults Using a Multi-Threat Framework

Objective

The Multi-Threat Framework accounts for potentially different forms of stereotype threat that differ in target (i.e., the individual or the group) and source (i.e., the self or others). This investigation examined how these different forms of perceived stereotype threat were related to concepts, such as group identity, stereotype endorsement, stigma consciousness, etc., among overweight and obese individuals.

Method

216 adults completed an online survey. Participants'' mean age was 23.6 (SD 10.1; range 18-64) years and mean BMI was 31.6 (SD 7.5) kg/m².

Results

Participants reported a history of feeling threatened by stereotypes related to weight. When reflecting on past experiences of perceived stereotype threat, participants reported greater levels of self/own stereotype threat compared to group stereotype threat. Level of stereotype threat was related to a number of personal characteristics (i.e., sex, BMI) and individual factors (i.e., group identity, stigma consciousness, fear of fat).

Conclusion

Individuals who are overweight report a history of being threatened by negative stereotypes. The findings support the Multi-Threat Framework for stereotype threat based on body weight. Overweight individuals'' susceptibility to stereotype threat may vary systematically depending on several factors. Future research should examine weight-related stereotypes'' impact on cognitive and behavioral outcomes.Key Words: Stereotype threat, Stigma consciousness, Obesity, Weight stigma, Group identity     

Delivery of macromolecules across oral mucosa from polymeric hydrogels is enhanced by electrophoresis (iontophoresis)

Objective

To develop polymeric hydrogel delivery systems for iontophorseis transfer of large molecules across buccal (porcine) mucosa.

Methods

Three hydrogels (PVA, HPMC and PVA/HPMC) were prepared as stable gels (7 mm diameter/1.5 mm thick). Quantitative (8 and 36 h) assessment of porcine buccal mucosa and the three hydrogel delivery systems, using a diffusion cell in vitro model, was carried out by UV/vis spectroscopy with three model agents (3 and 10 kDa dextrans and 12 kDa parvalbumin). Passive and iontophoresis parameters were obtained. Experimental and theoretical data were compared.

Results

Iontophoresis (30 min, 1–8 h) significantly enhanced the delivery of all model agents across four single systems (hydrogels and buccal mucosa) and three sandwich systems (hydrogels on top of buccal mucosa), as confirmed by time lag factor/enhancement ratio (TLF/ER) data. The diffusion coefficients of model agents across buccal mucosa (×10⁻¹³ m² s⁻¹) were ∼100 times lower than across single hydrogels (2.97–4.80 × 10⁻¹¹ m² s⁻¹). Solubility values of all agents across hydrogels were similar, but lower across buccal mucosa. Permeability of parvalbumin was highest across PVA, and for both dextrans across PVA/HPMC. In sandwich systems TLFs were similar for all hydrogels, but significantly lower, and ERs significantly higher, than tissue alone. Experimental and theoretical TLF data were in reasonable agreement.

Significance

The in vitro data show that iontophoresis enhanced the delivery of large molecules across polymeric hydrogel systems and buccal mucosa. This creates the opportunity of new approaches to drug delivery and opens pathways to further research for delivering therapeutic agents topically and systemically.