Phenotypic spectrum in a family with a novel p.I21S dominant-activating mutation.

Objectives: Dominant-activating (DA) lesions in have been reported in 18 individuals to date. Some have required haematopoietic stem cell transplantation (HSCT) for their (severe) combined immunodeficiency syndrome phenotype. We aimed to investigate clinical and cellular features of a kindred harbouring a novel variant in p.

The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing.

Primary immunodeficiency Disorders (PIDS) are rare, mostly monogenetic conditions which can present to a number of specialties. Although infections predominate in most PIDs, some individuals can manifest autoimmune or inflammatory sequelae as their initial clinical presentation. Identifying patients with PIDs can be challenging, as some can present later in life.

Challenges for gene editing in common variable immunodeficiency disorders: Current and future prospects.

The original CRISPR Cas9 gene editing system and subsequent innovations offers unprecedented opportunities to correct severe genetic defects including those causing Primary Immunodeficiencies (PIDs). Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic PID in adults and children. Unlike many other PIDs, patients meeting CVID criteria do not have a definable genetic defect and cannot be considered to have an inborn error of immunity (IEI).

The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.

The understanding of common variable immunodeficiency disorders (CVID) is in evolution. CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the disorder to be identified with greater precision.

Selective IgA Deficiency May Be an Underrecognized Risk Factor for Severe COVID-19.

SARS-CoV-2, the agent responsible for COVID-19, has wreaked havoc around the globe. Hundreds of millions of individuals have been infected and well over six million have died from COVID-19. Many COVID-19 survivors have ongoing physical and psychiatric morbidity, which will remain for the rest of their lives.

SARS-CoV-2 Omicron: Light at the End of the Long Pandemic Tunnel or Another False Dawn for Immunodeficient Patients?

COVID-19 has had a disastrous impact on the world. Apart from at least 6 million deaths, countless COVID-19 survivors are suffering long-term physical and psychiatric morbidity. Hundreds of millions have been plunged into poverty caused by economic misery, particularly in developing nations.

A baseline patch test series for New Zealand.

Background: Patch testing is the gold standard diagnostic test for allergic contact dermatitis and needs to be relevant to the region and the population being tested. The aim of this study was to develop a specific New Zealand baseline series (NZBS).

Method: We performed a retrospective case note review of patients attending four regional patch test centres between 2008 and 2020.

The Vulval Disease Quality of Life Index in women with vulval lichen sclerosus correlates with clinician and symptom scores.

Background/objectives: The Vulval disease Quality of Life Index (VQLI) is a new tool that assesses the burden of vulval disease on quality of life (QoL). Our objective was to assess the correlation between VQLI score and clinician-rated severity scores, overall patient itch/discomfort, disease duration, sexual activity, and age, in vulval lichen sclerosus (VLS) at a vulval disorders clinic.

Methods: A retrospective case note review, including consecutive women with VLS who attended the clinic between April and October 2018.

Are physical activity levels of health care professionals consistent with activity guidelines? A prospective cohort study in New Zealand.

Objective: We aimed to estimate the level of physical activity undertaken by health care professionals and the proportion that achieved a daily target of 10,000 steps.

Design: This was a prospective cohort study.

Setting: Participants were recruited in Wellington Regional Hospital, a tertiary hospital in New Zealand.

Accelerating Chemical Discovery with Machine Learning: Simulated Evolution of Spin Crossover Complexes with an Artificial Neural Network.

Machine learning (ML) has emerged as a powerful complement to simulation for materials discovery by reducing time for evaluation of energies and properties at accuracy competitive with first-principles methods. We use genetic algorithm (GA) optimization to discover unconventional spin-crossover complexes in combination with efficient scoring from an artificial neural network (ANN) that predicts spin-state splitting of inorganic complexes. We explore a compound space of over 5600 candidate materials derived from eight metal/oxidation state combinations and a 32-ligand pool.

Patients prefer pictures to numbers to express cardiovascular benefit from treatment.

Purpose: This study aimed to determine which methods of expressing a preventive medication's benefit encourage patients with known cardiovascular disease to decide to take the medication and which methods patients prefer.

Methods: We identified patients in Auckland, New Zealand, family practices located in areas of differing socioeconomic status who had preexisting heart disease (myocardial infarction, angina, or both) and were taking statins. The patients were interviewed about their preference for methods of expressing the benefit of a hypothetical medication.

The experience of SARS-related stigma at Amoy Gardens.

Severe Acute Respiratory Syndrome (SARS) possesses characteristics that render it particularly prone to stigmatization. SARS-related stigma, despite its salience for public health and stigma research, has had little examination. This study combines survey and case study methods to examine subjective stigma among residents of Amoy Gardens (AG), the first officially recognized site of community outbreak of SARS in Hong Kong.