Behavioural and neurodevelopmental characteristics of SYNGAP1.

Background: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype.

Contemporary modern total ankle arthroplasty (TAA): A systematic review and meta-analysis of indications, survivorship and complication rates.

Background: This study evaluates the clinical outcomes of contemporary total ankle arthroplasty (TAAs) to primarily establish the current benefits and risks to facilitate informed decision making to secondarily establish if improvements are seen between subsequent generations of implants, bearing philosophy, and associated surgical technique.

Methods: A systematic review and meta-analysis of published data from January 2000 to January 2020 was conducted following PRISMA guidelines.

Inclusion Criteria: English language papers, adult population, ≥20 ankles with a minimum follow up ≥24 months, pre- and post-operative functional scores available.

Monitoring persistent pulmonary hypertension of the newborn using the arterial to end tidal carbon dioxide gradient.

Persistent pulmonary hypertension of the newborn (PPHN) can be monitored theoretically by the difference of the partial pressure of arterial (PaCO) to end-tidal CO (EtCO). We aimed to test the hypothesis that the PaCO-EtCO gradient in infants with PPHN would be higher compared to infants without PPHN. Prospective, observational study of term-born ventilated infants with echocardiographically-confirmed PPHN with right-to-left shunting and term-born control infants without respiratory disease.

Ventilatory response to added dead space in infants exposed to second-hand smoke in pregnancy.

Maternal cigarette smoking in pregnancy can adversely affect infant respiratory control. In utero nicotine exposure has been shown to blunt the infant ventilatory response to hypercapnia, which could increase the risk of sudden infant death syndrome. The potential impact of maternal second-hand smoke exposure, however, has not yet been determined.

The impact of COVID-19 on smoking cessation in pregnancy.

Objectives: A greater proportion of non-pregnant smokers attempted to stop smoking during compared to before the COVID-19 pandemic. The objective of this study was to determine if a greater proportion of pregnant women also attempted to stop smoking during the pandemic rather than before.

Methods: The use of antenatal smoking cessation services and nicotine replacement therapies (NRT) in pregnant women was audited before (2019-2020) and during the COVID pandemic (2020-2021).

Factors affecting the arterial to end-tidal carbon dioxide gradient in ventilated neonates.

. To determine factors which influenced the relationship between blood carbon dioxide (pCO) and end-tidal carbon dioxide (EtCO) values in ventilated, newborn infants. Furthermore, to assess whether pCOlevels could be predicted from continuous EtCOmonitoring.

Carboxyhaemoglobin levels and free-radical-related diseases in prematurely born infants.

Background: Carboxyhaemoglobin (COHb) levels may reflect the level of early oxidative stress which plays a role in mediating free-radical-related diseases in prematurely born infants.

Aim: To assess the relationship of COHb levels in the first seven days of after birth to the development of bronchopulmonary dysplasia (BPD) and other free-radical-related diseases.

Study Design: Retrospective analysis of routinely performed COHb via blood gas samples of infants born at less than 30 weeks of gestation admitted to a tertiary neonatal intensive care unit was undertaken.

Nicotine replacement therapy and e-cigarettes in pregnancy and infant respiratory outcomes.

Background: Nicotine replacement therapy (NRT) and e-cigarettes are recommended to pregnant women who wish to stop smoking. Albeit eliminating other harmful components of cigarettes, those alternatives still expose the developing fetus to nicotine. The lungs may be particularly vulnerable to damage by nicotine as there is widespread nicotinic-acetylcholine receptor expression in the lungs.

Universal newborn hearing screening in South Africa: a single-centre study.

Hearing screening for newborn babies is an established protocol in many high-income countries. Implementing such screening has yielded significant socioeconomic advantages at both an individual and societal level. This has yet to permeate low/middle-income countries (LMIC).

The Role of Maternal Smoking in Sudden Fetal and Infant Death Pathogenesis.

Maternal smoking is a risk factor for both sudden infant death syndrome (SIDS) and sudden intrauterine unexplained death syndrome (SIUDS). Both SIDS and SIUDS are more frequently observed in infants of smoking mothers. The global prevalence of smoking during pregnancy is 1.

A randomised crossover trial of closed loop automated oxygen control in preterm, ventilated infants.

Aim: To determine whether closed loop automated oxygen control resulted in a reduction in the duration and severity of desaturation episodes and the number of blood gases and chest radiographs in preterm, ventilated infants.

Methods: Infants were studied on two consecutive days for 12 hours on each day. They were randomised to receive standard care (standard period) or standard care with a closed loop automated oxygen control system (automated oxygen control period) first.

Prospective assessment of a critical appraisal teaching programme on medical students' confidence and performance in appraising medical literature.

Background: Previous research has demonstrated that medical students have insufficient knowledge of critical appraisal, a fundamental aspect of evidence-based medicine. We aimed to enhance medical students' critical appraisal skills using an innovative mixed-methods programme.

Methods: We designed a 2-day, mixed-methods, national teaching programme, including an interactive lecture and workshop, quiz and viva-style examination.

Pathophysiological dissociation of the interaction between time pressure and trait anxiety during spatial orientation judgments.

Spatial orientation is achieved by integrating visual, vestibular and proprioceptive cues. Individuals that rely strongly upon visual cues to facilitate spatial orientation are termed visually dependent. Heightened visual reliance commonly occurs in patients following vestibular dysfunction and can influence clinical outcome.

Interhemispheric control of sensory cue integration and self-motion perception.

Spatial orientation necessitates the integration of visual and vestibular sensory cues, in-turn facilitating self-motion perception. However, the neural mechanisms underpinning sensory integration remain unknown. Recently we have illustrated that spatial orientation and vestibular thresholds are influenced by interhemispheric asymmetries associated with the posterior parietal cortices (PPC) that predominantly house the vestibulo-cortical network.

Abnormal visuo-vestibular interactions in vestibular migraine: a cross sectional study.

Vestibular migraine is among the commonest causes of episodic vertigo. Chronically, patients with vestibular migraine develop abnormal responsiveness to both vestibular and visual stimuli characterized by heightened self-motion sensitivity and visually-induced dizziness. Yet, the neural mechanisms mediating such symptoms remain unknown.

Vestibulo-cortical hemispheric dominance: The link between anxiety and the vestibular system?

Vestibular processing and anxiety networks are functionally intertwined, as demonstrated by reports of reciprocal influences upon each other. Yet whether there is an underlying link between these two systems remains unknown. Previous findings have highlighted the involvement of hemispheric lateralisation in processing of both anxiety and vestibular signals.