Inborn Errors of Immunity and Autoimmune Disease.

Autoimmunity may be a manifestation of inborn errors of immunity, specifically as part of the subgroup of primary immunodeficiency known as primary immune regulatory disorders. However, although making a single gene diagnosis can have important implications for prognosis and management, picking patients to screen can be difficult, against a background of a high prevalence of autoimmune disease in the population. This review compares the genetics of common polygenic and rare monogenic autoimmunity, and explores the molecular mechanisms, phenotypes, and inheritance of autoimmunity associated with primary immune regulatory disorders, highlighting the emerging importance of gain-of-function and non-germline somatic mutations.

Asymmetric Intrastromal Corneal Ring Segments with Progressive Base Width and Thickness for Keratoconus: Evaluation of Efficacy and Analysis of Epithelial Remodeling.

The aim of this study is to describe visual outcomes and epithelial remodeling following the implantation of asymmetric intracorneal ring segments (ICRSs) of variable thickness and base width for the management of duck-type keratoconus. A prospective observational study of patients with duck-type keratoconus was conducted. All patients received one ICRS AJL PRO + implant (AJL Ophthalmic).

Laser Doppler holography of the anterior segment for blood flow imaging, eye tracking, and transparency assessment.

Laser Doppler holography (LDH) is a full-field blood flow imaging technique able to reveal human retinal and choroidal blood flow with high temporal resolution. We here report on using LDH in the anterior segment of the eye without making changes to the instrument. Blood flow in the bulbar conjunctiva and episclera as well as in corneal neovascularization can be effectively imaged.

Comparative Study of Asymmetric Versus Non-asymmetric Intrastromal Corneal Ring Segments for the Management of Keratoconus.

Purpose: To compare the outcomes obtained with models of asymmetric and non-asymmetric intracorneal ring segments (ICRS) in keratoconic eyes with asymmetric topo-graphic patterns.

Methods: In this prospective observational study, ICRS were implanted alternately in patients with the same tomographic patterns of keratoconus assigned to four groups. Patients with the "duck" phenotype received one asymmetric or non-asymmetric ICRS and patients with the "snowman" pheno-type received two asymmetric or non-asymmetric ICRS.

Postoperative Corneal Epithelial Remodeling After Intracorneal Ring Segment Procedures for Keratoconus: An Optical Coherence Tomography Study.

Purpose: To assess epithelial corneal remodeling by anterior segment optical coherence tomography (AS-OCT) after intracorneal ring segments (ICRS) implantation in keratoconic eyes.

Methods: This prospective observational study included patients with keratoconus receiving ICRS of different arc lengths according to their tomographic pattern. AS-OCT and corneal topography (Scheimpflug camera) were performed before and 1, 3, and 6 months after surgery.

Haematopoietic stem cell transplantation for primary immunodeficiency syndromes: A 5-year single-centre experience.

Aim: Haematopoietic stem cell transplantation (HSCT) is a central therapy in the treatment of primary immunodeficiency diseases (PIDs). Over the past 5 years, outcomes have been greatly improved due to earlier diagnosis, improved donor availability, advancements in graft manipulation and the use of less toxic preparative regimens. We present a 5-year audit of HSCT for PID at a single Australian tertiary hospital.

Maternal cigarette smoking is associated with reduced high-density lipoprotein cholesterol in healthy 8-year-old children.

Aims: Smoking in pregnancy is common. Its effects on lipoprotein levels and arterial structure in childhood are not well characterized. We aimed to determine the effects of maternal smoking in pregnancy on lipoprotein levels and arterial wall thickness in healthy pre-pubertal children.

Severe obesity is associated with impaired arterial smooth muscle function in young adults.

The degree of arterial dilatation induced by exogenous nitrates (nitrate-mediated dilatation, NMD) has been similar in obese and normal-weight adults after single high-dose glyceryl trinitrate (GTN). We examined whether NMD is impaired in obesity by performing a GTN dose-response study, as this is a potentially more sensitive measure of arterial smooth muscle function. In this cross-sectional study, subjects were 19 obese (age 31.