The relationship between discordant birth weight in twin pairs and the development of retinopathy of prematurity.

The association of low birth weight and development of retinopathy of prematurity (ROP) is well established for singletons; however, the association of birth weight and ROP in twins of discordant weight is understudied. Using an ROP registry, we investigated whether smaller twins were at greater risk for developing any stage ROP (stage 1 or greater in either eye) compared with their larger siblings, after adjusting for birth weight and gestational age. Discordance was defined as a birth weight difference of >25%.

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.

Outcomes for Younger Patients with Femoral Neck Fractures.

Background: There is a paucity of longer-term outcome data in younger adult patients who undergo fixation for an intracapsular hip fracture. The aims of this study were to evaluate the outcomes for young adult patients undergoing intracapsular hip fracture fixation and to assess factors associated with failure and patient-reported outcome measures (PROMs).

Methods: From 2008 to 2018, 112 consecutive patients ≤60 years of age (mean age, 48 years [range, 20 to 60 years]; 54% male) were retrospectively identified as having undergone fixation of an intracapsular hip fracture.

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.

With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored.