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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Parental Experiences of Having a Child Diagnosed With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.
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Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disordersClinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.
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Lung volumes, gas transfer and oscillometry after preterm birth: systematic review and meta-analysisSmall airway and lung parenchymal abnormalities frequently occur following preterm birth but are commonly missed by spirometry. Static lung volumes, diffusing capacity of the lung for carbon monoxide (D LCO) and oscillometry provide a more precise characterisation of these conditions. We hypothesised that differences in these measures exist between individuals born preterm and at term and we aimed to systematically review the literature to identify and quantify these differences in lung function.
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Global participatory wastewater surveillance to understand mpox clade diversity in war and conflict-affected countriesWar and conflict severely disrupt public health systems, compromising infectious disease surveillance in many affected regions. Mpox, a re-emerging zoonotic disease, poses a growing global threat, especially in areas where traditional monitoring is inaccessible.The mpox virus has distinct clades with varying transmission and severity.
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Parent and Child Choice of Sugary Drinks Under Four Labelling ConditionsThe majority of Australian children exceed the World Health Organization's recommended dietary intake of free sugar, particularly through the consumption of sugar-sweetened beverages. Front-of-pack nutrition labels increase perceived risk and deter the consumption of sugar-sweetened beverages.
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Exploring the evidence on housing and health among Indigenous peoples in high-income countries: A scoping review protocolThe objective of this scoping review is to understand the nature of the published evidence on housing suitability, affordability, insecurity, and homelessness in relation to physical and mental health, domestic violence, and health service use among Indigenous people in high-income countries.
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Characterising the SARS-CoV-2 nucleocapsid (N) protein antibody responseSARS-CoV-2 nucleocapsid (N) protein antibodies can be used to identify the serological response to natural infection in those who have previously received a COVID-19 spike-based vaccine. Anti-N antibody responses can also be induced by inactivated whole SARS-CoV-2 virus vaccines, such as CoronaVac. We aimed to characterise antibody responses to the N protein following COVID-19 and following vaccination with CoronaVac.
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Exploring variation in beach environments and physical activity by neighbourhood socioeconomic status in Perth, AustraliaBeaches are important settings for physical activity, with their quality (safety, amenities, aesthetics) influencing how well they support health. The quality of beaches may differ across neighbourhoods, with higher socioeconomic status neighbourhoods having disproportionately better access to beaches. This study examined the attributes of and activities taking place in beaches by neighbourhood socioeconomic status.