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MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
Monkeypox virus (MPXV) has been linked to vertical transmission, but systematic data are scarce. We aimed to describe the sociodemographic, clinical, and virological characteristics and assess the frequency and determinants of adverse outcomes in pregnant women with MPXV clade I infection.
When doctors working within healthcare systems under pressure perpetrate, witness, or fail to prevent acts that contradict their own moral or ethical values and expectations, it can lead to moral distress or moral injury. This can result from active behaviour and from purposeful inactive behaviour. It is a growing and critical concern, representing significant distress that extends far beyond traditional concepts such as burnout. This article discusses moral injury in clinical and academic medicine and actively gives suggestions to prevent and address moral injury.
Lesbian, Gay, Bisexual, Transgender, Intersex, Queer, Asexual/Aromantic (LGBTIQA+) people and other individuals with diverse sexual orientation, sex and/or gender identity experience intimate partner violence (IPV) at higher rates than non-LGBTIQA+ people but often receive inconsistent culturally competent healthcare, which deters help-seeking.
The implications of climate change for malaria eradication this century remain poorly resolved. Many studies focus on parasite and vector ecology in isolation, neglecting the interactions between climate, malaria control and the socioeconomic environment, including disruption from extreme weather. Here we integrate 25 years of African data on climate, malaria burden and control, socioeconomic factors, and extreme weather.
Repetitive Negative Thinking (RNT) during pregnancy is a key risk factor for psychopathology in the perinatal period. However, the cognitive mechanisms underlying prenatal RNT remain poorly understood. Recent research has suggested that a tendency to volitionally seek negative rather than positive information (i.e., biased information seeking) may contribute to the formation of more negative prenatal expectations, which in turn predict elevated prenatal RNT.
Malaria is a focal disease and more localized in low endemic areas. The disease is increasingly becoming a concern in urban areas in most sub-Saharan African countries. The growing threats of Anopheles stephensi and insecticide resistance magnify this concern and hamper elimination efforts. It is, therefore, imperative to identify areas, within urban settings, of high-risk of malaria to help better target interventions.
Children with early-stage (pre-symptomatic) type 1 diabetes are currently identified primarily via research-based screening programmes in Australia. Once identified, families live with the knowledge that their child has an increased chance of developing symptomatic, lifelong, insulin-requiring type 1 diabetes but have no specific clinical pathway available to them in Western Australia for accessing tailored support or education. This project aimed to co-design a new clinical pathway to address this unmet need.
Aboriginal and Torres Strait Islander Peoples share rich cultural traditions unrivalled across the world; however, the continued impact of colonisation led to sustained, profound trauma that has spanned generations. With Aboriginal and Torres Strait Islander people presenting to hospital emergency departments for self-harm and suicidal behaviours at a rate 2.9 times higher than non-Indigenous people, there is a need to develop culturally appropriate interventions to address this growing problem.
Severe microcephaly, or head circumference at least 3 standard deviations below the mean for age and sex, is a rare condition with diverse etiology, making diagnosis challenging. Following the 2015 to 2016 Zika virus outbreak, surveillance studies in Australia, Canada, New Zealand, and the United Kingdom and Ireland were conducted to monitor severe microcephaly. We describe the etiology, clinical features, and diagnostic investigations of severe microcephaly among children aged younger than 1 year.