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Editorial: Vaccines and immunization services during the pandemic era and beyondCitation: Amponsah-Dacosta E, Fulurija A, Afum-Adjei Awuah A, Mathema S, Wariri O. Editorial: Vaccines and immunization services during the pandemic
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
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Widespread haemorrhages in infants post-shunting (WHIPS): clinical features, risk factors and neuroimaging characteristics of a rare and under-recognised phenomenonInfants undergoing CSF shunting procedures face a rare complication which we propose to rename "Widespread Haemorrhages in Infants Post-Shunting" (WHIPS) to better capture this unique phenomenon specific to infants undergoing CSF diversion. Our objective is to analyse the risk factors for WHIPS development and provide a detailed neuroradiological description of these haemorrhages.
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Vision loss and diabetic retinopathy prevalence and risk among a cohort of Indigenous and non-Indigenous Australians with type 2 diabetes receiving renal haemodialysis treatmentDiabetic nephropathy, vision loss and diabetic retinopathy are frequent comorbidities among individuals with type 2 diabetes (T2D). The Retinopathy in People Currently On Renal Dialysis study sought to examine the epidemiology and risk of vision impairment and among a cohort of Indigenous and non-Indigenous Australians with T2D currently receiving haemodialysis for end-stage renal failure.
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Barriers and enablers to promoting grandchildren’s physical activity and reducing screen time: a qualitative study with Australian grandparentsWith an increasing number of grandparents providing care to their grandchildren, calls have been made for these caregivers to be considered important stakeholders in encouraging children's engagement in health-promoting behaviors, such as physical activity.
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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Environmental Determinants of Islet Autoimmunity (ENDIA) longitudinal prospective pregnancy to childhood cohort study of Australian children at risk of type 1 diabetes: parental demographics and birth informationThe Environmental Determinants of Islet Autoimmunity Study is an ongoing Australian prospective cohort study investigating how modifiable prenatal and early-life exposures drive the development of islet autoimmunity and type 1 diabetes in children. In this profile, we describe the cohort's parental demographics, maternal and neonatal outcomes and human leukocyte antigen genotypes.
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Rebooting the anal sphincter: A retrospective cohort of children with intractable constipation receiving intrasphincteric botox injectionsChronic childhood constipation is a common problem that severely impacts quality of life. Recently, the efficacy of intrasphincteric botulinum toxin (botox) injection in breaking the cycle of constipation has been demonstrated. The current study aims to investigate response rate to treatment, symptom and examination finding associations, and identify associations between patient characteristics and outcome.
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Airway management in neonates and infants: Recommendations according to the ESAIC/BJA guidelinesSecuring an airway enables the oxygenation and ventilation of the lungs and is a potentially life-saving medical procedure. Adverse and critical events are common during airway management, particularly in neonates and infants. The multifactorial reasons for this include patient-dependent, user-dependent and also external factors.
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Are we missing opportunities to detect acute rheumatic fever and rheumatic heart disease in hospital care? A multijurisdictional cohort studyThis study aimed to investigate potential missed diagnoses of acute rheumatic fever and rheumatic heart disease during hospital-based care among persons subsequently identified with these conditions.