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There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.

Research

Reduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the 'social brain' when viewing facial stimuli.

Research

The study of temperament in Autism Spectrum Disorder (ASD) has the potential to provide insight regarding variability in the onset, nature, and course of both core and co-morbid symptoms. The aim of this systematic review was to integrate existing findings concerning temperament in the context of ASD. Searches of Medline, PsychInfo and Scopus databases identified 64 relevant studies. As a group, children and adolescents with ASD appear to be temperamentally different from both typically developing and other clinical non-ASD groups, characterized by higher negative affectivity, lower surgency, and lower effortful control at a higher-order level.

Research

A search strategy was developed to identify tools used to evaluate standard and teleaudiology hearing aid rehabilitation services for adults. A seven-domain hearing-health-care service model for validation was defined and used to analyse the applicability and suitability of patient- and service-centred tools. This model and the applicability and suitability criteria were based on the literature, the International Classification of Functioning (ICF) framework, and gold standard professional practice guidelines, which together formed the validation framework used in this study.

Research

Mesothelioma is a cancer that typically originates in the pleura of the lungs. It rapidly invades the surrounding tissues, causing pain and shortness of breath. We compared cell lines injected either subcutaneously or intrapleurally and found that only the latter resulted in invasive and rapid growth.

Research

Cardiovascular disease occurs prematurely in type 1 diabetes. The additional risk of overweight is not well characterized. The primary aim was to measure the impact of body mass index (BMI) in youth with type 1 diabetes on cardiovascular risk factors. The secondary aim was to identify other determinants of cardiovascular risk.

Research

The aim of this study was to provide a comprehensive evidence on risk factors for transmission, disease severity and COVID-19 related deaths in Africa. A systematic review has been conducted to synthesise existing evidence on risk factors affecting COVID-19 outcomes across Africa.

Research

Epidemiological studies indicate that children of parents with mental health problems are at an increased risk of developing anxiety disorders. Few studies have investigated this relationship in young adults. Participants were from the Raine Study, which is a multi-generational birth cohort study in Australia. Maternal anxiety and depression in late childhood were assessed using the Depression, Anxiety, and Stress Scale (DASS-42), and paternal lifetime mental health problems were assessed using a self-reported questionnaire.

Research

The way we produce and use energy is transforming. Policy in this area intersects decisions that affect climate change, air quality, and the economy. The exponential increase in use of fossil fuel and nuclear energy has now essentially replaced human and animal energy. These transitions have contributed to notable gains, such as improvements in mortality rates attributable to improved heating, water quality and transportation.

Research

Previous research has found that human voice can provide reliable information to be used for gender identification with a high level of accuracy. In social psychology, perceived masculinity and femininity (masculinity and femininity rated by humans) has often been considered an important feature when investigating the influence of vocal features on social behaviours.