Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model.

Peroxisome biogenesis disorders (PBDs) represent a group of metabolic conditions that cause severe developmental defects. Peroxisomes are essential metabolic organelles, present in virtually every eukaryotic cell and mediating key processes in immunometabolism. To date, the full spectrum of PBDs remains to be identified, and the impact PBDs have on immune function is unexplored.

Modulation of the cell membrane lipid milieu by peroxisomal β-oxidation induces Rho1 signaling to trigger inflammatory responses.

Phagocytosis, signal transduction, and inflammatory responses require changes in lipid metabolism. Peroxisomes have key roles in fatty acid homeostasis and in regulating immune function. We find that Drosophila macrophages lacking peroxisomes have perturbed lipid profiles, which reduce host survival after infection.

An unusual example of hereditary multiple exostoses: a case report and review of the literature.

Background: Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread. distribution of osteochondromas originating from the metaphyses of long bones.

Case Presentation: This case study examines a 55-year-old male cadaver bequeathed to the University of Liverpool who suffered from HME, thus providing an exceptionally rare opportunity to examine the anatomical changes associated with this condition.

A specific cognitive deficit within semantic cognition across a multi-generational family.

We report a study of eight members of a single family (aged 8-72 years), who all show a specific deficit in linking semantic knowledge to language. All affected members of the family had high levels of overall intelligence; however, they had profound difficulties in prose and sentence recall, listening comprehension and naming. The behavioural deficit was remarkably consistent across affected family members.

Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents.

Sex differences have been found amongst toddlers and young children with autism spectrum disorder (ASD). We investigated the presence and stability of these ASD sex differences throughout childhood and adolescence. Participants (N = 325, 52 females; aged 3-18 years) consecutively received an ASD diagnosis at a clinic for assessing high-functioning ASD (mean verbal IQ = 92.

Avoiding legal pitfalls in surrogacy arrangements.

The goal of this article is to discuss the legal pitfalls that reproductive endocrinologists face when participating in gestational surrogacy contracts. This paper was composed using Westlaw and LexisNexis commercial legal search engines to perform a review of statutes and cases pertaining to gestational surrogacy. The search results demonstrated that in the absence of suitable preparation, there is significant potential for litigation while participating in gestational agreements.

The ethical challenges of providing fertility care to patients with chronic illness or terminal disease.

The field of fertility is rapidly evolving, bringing opportunities for improvement in our patients' quality of life as well as bringing new ethical dilemmas. As medical science continues to advance, significant numbers of the reproductive-aged population are living with chronic and/or terminal conditions but have reasonable odds of lengthy survival and wish to have children. Likewise, there are adolescents diagnosed with cancer who are increasingly expected to achieve an improved, if not normal, life expectancy after treatment.

Emotional modulation of perception in Asperger's syndrome.

Using an attentional blink paradigm, we show that the typical enhancement of perception for emotionally arousing events is significantly reduced in Asperger's syndrome (AS) at short inter-target intervals. Control experiments demonstrate that this finding cannot be attributed to differences in the perceived arousal of the stimuli, or to a global impairment affecting any type of modulation of perceptual encoding. Because a functioning amygdala is critical for emotional modulation of the attentional blink, the findings support a role for the amygdala in the pathophysiology of AS.

Avoidance of emotionally arousing stimuli predicts social-perceptual impairment in Asperger's syndrome.

We combined eye-tracking technology with a test of facial affect recognition and a measure of self-reported social anxiety in order to explore the aetiology of social-perceptual deficits in Asperger's syndrome (AS). Compared to controls matched for age, IQ and visual-perceptual ability, we found a group of AS adults was impaired in their recognition of fearful and sad expressions and spent significantly less time fixating the eye region of all faces. For AS subjects, but not controls, the extent of the failure to fixate the eyes predicted the degree of impairment at recognising fearful expressions.

Impaired sadness recognition is linked to social interaction deficit in autism.

Can autistic individuals use motion cues to identify simple emotions from 2D abstract animations? We compared emotion recognition ability using a novel test involving computerised animations, and a more conventional emotion recognition test using facial expressions. Adults with autism and normal controls, matched for age and verbal IQ, participated in two experiments. First, participants viewed a series of short (5s) animations.