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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample.

Get it right, make it easy, see it all: Viewpoints of autistic individuals and parents of autistic individuals about the autism diagnostic process in Australia

The clinical process for being evaluated for an autism diagnosis is often time consuming and stressful for individuals and their caregivers. While experience of and satisfaction with the diagnostic process has been reviewed in the literature, few studies have directly investigated the viewpoints of individuals diagnosed with autism and caregivers of autistic individuals about what is important in the autism diagnostic process.

Data utilisation and factors influencing the performance of the health management information system in Tanzania

Health Management Information System (HMIS) is a set of data regularly collected at health care facilities to meet the needs of statistics on health services. This study aimed to determine the utilisation of HMIS data and factors influencing the health system's performance at the district and primary health care facility levels in Tanzania.

Reduced socs1 expression in lung fibroblasts from patients with ipf is not mediated by promoter methylation or mir155

The interleukin (IL)-6 family of cytokines and exaggerated signal transducer and activator of transcription (STAT)3 signaling is implicated in idiopathic pulmonary fibrosis (IPF) pathogenesis, but the mechanisms regulating STAT3 expression and function are unknown. Suppressor of cytokine signaling (SOCS)1 and SOCS3 block STAT3, and low SOCS1 levels have been reported in IPF fibroblasts and shown to facilitate collagen production. Fibroblasts and lung tissue from IPF patients and controls were used to examine the mechanisms underlying SOCS1 down-regulation in IPF.

ACE2 expression is elevated in airway epithelial cells from older and male healthy individuals but reduced in asthma

COVID-19 is complicated by acute lung injury, and death in some individuals. It is caused by SARS-CoV-2 that requires the ACE2 receptor and serine proteases to enter AEC. We determined what factors are associated with ACE2 expression particularly in patients with asthma and COPD. We obtained lower AEC from 145 people from two independent cohorts, aged 2-89 years, Newcastle (n = 115) and Perth (n = 30), Australia. The Newcastle cohort was enriched with people with asthma (n = 37) and COPD (n = 38). Gene expression for ACE2 and other genes potentially associated with SARS-CoV-2 cell entry was assessed by qPCR, and protein expression was confirmed with immunohistochemistry on endobronchial biopsies and cultured AEC.

Global maps of travel time to healthcare facilities

Access to healthcare is a requirement for human well-being that is constrained, in part, by the allocation of healthcare resources relative to the geographically dispersed human population. Quantifying access to care globally is challenging due to the absence of a comprehensive database of healthcare facilities. We harness major data collection efforts underway by OpenStreetMap, Google Maps and academic researchers to compile the most complete collection of facility locations to date.

The risk of intramuscular haematoma is low following injection of benzathine penicillin G in patients receiving concomitant anticoagulant therapy

Our local data supports continuing intramuscular injection of BPG in patients with rheumatic heart disease receiving anticoagulant medication

Assessing the unified airway hypothesis in children via transcriptional profiling of the airway epithelium

Upper and lower airways are conserved in their transcriptional composition, and variations associated with disease are present in both nasal and tracheal epithelium

Azithromycin Partially Mitigates Dysregulated Repair of Lung Allograft Small Airway Epithelium

Chronic airway injury and dysregulated repair programs are evident in airway epithelium obtained from patients with bronchiolitis obliterans syndrome

FeBRILe3 Project: protocol for a prospective study and safety evaluation assessing Fever, Blood cultures and Readiness for discharge in Infants Less than 3 months old

Assess the safety and impact of the introduction of a guideline recommending early discharge of infants with fever without source at low risk of serious bacterial infection