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Severity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.
The lack of a consensus definition of neonatal sepsis and a core outcome set proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents.
Results from recent clinical studies suggest potential efficacy of immune training (IT)-based approaches for protection against severe lower respiratory tract infections in infants, but underlying mechanisms are unclear.
Despite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.
Exhaled breath condensate (EBC) collection is a non-invasive, safe method for measurement of biomarkers in patients with lung disease. Other methods of obtaining samples from the lungs, such as bronchoalveolar lavage, are invasive and require anaesthesia/sedation in neonates and infants. EBC is particularly appealing for assessing biomarkers in preterm-born infants, a population at risk of ongoing lung disease.
Acute leukaemia is the most common childhood malignancy. Almost all cases are classified as acute lymphoblastic leukaemia or acute myeloid leukaemia. Acute leukaemia of ambiguous lineage (ALAL) is a rare form of acute leukaemia that cannot be classified by a single lineage. Like other acute leukaemias, ALAL typically presents with nonspecific symptoms such as fatigue, fever, or bleeding.
Parent-infant interactions provide the foundation for the development of infant socioemotional wellbeing. Preterm birth can have a substantial, and often detrimental, impact on the quality of early parent-infant interactions. Sensory processing difficulties, common in preterm infants, are further associated with poorer interaction quality.
The prevalence of stillbirth in many high income countries like Australia has remained unchanged for over 30 years. The 2018 Australian government Senate Select Committee on Stillbirth Research and Education highlighted the need for a public health campaign to encourage public conversations and increase awareness.
Data on Rift Valley fever virus (RVFV) prevalence in urban settings and pastoral areas of Tanzania are scarce. We performed a cross-sectional study of RVFV seroprevalence and determinants in humans and animals from Ilala, Rufiji, and Sengerema districts of Tanzania.
Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.