Giant Cell Arteritis Presenting as an Ischaemic Upper Limb

Aim To present an interesting case of giant cell arteritis presenting as ischaemic upper limb. Methods Data was collected from the patient's chart and from radiology and laboratory systems in our institution. Results The patient had a temporal artery biopsy confirming the diagnosis of temporal arteritis. This was successfully treated with high dose steroids leading to resolution of symptoms in the arm. Conclusion Arteritis is an important consideration to consider in patients who present with limb ischaemia as it is a reversible cause which can be treated effectively.

Mice lacking the chromodomain helicase DNA-binding 5 chromatin remodeler display autism-like characteristics.

Although autism spectrum disorders (ASDs) share a core set of nosological features, they exhibit substantial genetic heterogeneity. A parsimonious hypothesis posits that dysregulated epigenetic mechanisms represent common pathways in the etiology of ASDs. To investigate this hypothesis, we generated a novel mouse model resulting from brain-specific deletion of chromodomain helicase DNA-binding 5 (Chd5), a chromatin remodeling protein known to regulate neuronal differentiation and a member of a gene family strongly implicated in ASDs. RNA sequencing of Chd5-/- mouse forebrain tissue revealed a preponderance of changes in expression of genes important in cellular development and signaling, sociocommunicative behavior and ASDs. Pyramidal neurons cultured from Chd5-/- cortex displayed alterations in dendritic morphology. Paralleling ASD nosology, Chd5-/- mice exhibited abnormal sociocommunicative behavior and a strong preference for familiarity. Chd5-/- mice further showed deficits in responding to the distress of a conspecific, a mouse homolog of empathy. Thus, dysregulated chromatin remodeling produces a pattern of transcriptional, neuronal and behavioral effects consistent with the presentation of ASDs.