Interventions to support Choosing Wisely for coagulation studies in the emergency department.

Objective: To evaluate the effectiveness of two different strategies designed to facilitate implementation of Choosing Wisely Australia guidelines, aiming to reduce unnecessary coagulation study blood tests in patients presenting to a metropolitan hospital ED.

Method: In this real-world quality improvement study, the first intervention tested was an education strategy. The second intervention was physically removing coagulation pathology tubes from the bedside trolleys in the ED.

The positive and the negative impacts of spasticity in patients with long-term neurological conditions: an observational study.

Purpose: To describe the positive and negative impacts of spasticity across different neurological disorders using the Patient Reported Impact of Spasticity Measure (PRISM), deduce any associations between severity of spasticity and its impact, and assess for differences across diagnostic subgroups.

Materials And Methods: PRISM, a spasticity-specific quality of life questionnaire validated in patients with spinal cord injuries, was given to 97 follow-up patients attending a spasticity clinic prior to symptom assessment using the REsistance to PAssive movement Scale (REPAS).

Results: Patients described a minor level of positive impact and a marked negative impact in the domains of "Psychological Agitation," "Daily Activities," "Need for Assistance/Positioning" and "Social Avoidance/Anxiety.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients.

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.

Context: Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown.

Objective: To describe patients with syndromic hypopituitarism due to biallelic loss-of-function variants in TBC1D32, a gene implicated in Sonic Hedgehog (Shh) signaling.

Setting: Referral center.