Preconception health risk factors documented in general practice electronic medical records
Preconception care (PCC) describes interventions that identify and modify behavioural, biomedical, and social risks among reproductive-aged women. Although PCC aims to enhance healthy pregnancy outcomes through managing risk factors like obesity, smoking, alcohol consumption, diabetes, and mental health conditions, it is unclear whether PCC risk factors are identifiable in general practice records. In this Australian study, Withanage et al (2024) determined the extent to which medical and lifestyle preconception health risk factors are documented in GP electronic medical records (EMRs).
The authors retrospectively audited the documentation of medical and lifestyle preconception risk factors of 100 consecutive women aged 18–44 years who attended ten general practices over nine months in 2022.
Most of the reproductive-aged women had their smoking status, blood pressure, alcohol consumption and body-mass index documented in their GP EMRs, and the authors state that their study demonstrates the current burden of risk of potential adverse pregnancy outcomes. They note the relatively high prevalence of preconception lifestyle risk factors and medical conditions. Thus, 14% smoked, 24% were obese, 7% had high blood pressure, 5% had diabetes, 28% had a mental health condition, 13% had asthma, 6% had thyroid disease and 17% had been prescribed a potentially teratogenic medication. This study ‘highlights the potential to use information in the EMR to identify reproductive-aged women who could most benefit from PCC.’
The landscape for rare diseases in 2024
Rare diseases, by definition, affect only a small number of individuals – fewer than 1 in 2000 in any region of the World Health Organisation – but since there are more than 7000 types of rare disease, their global burden is significant. For example, around 300 million people live with rare diseases. These facts are cited in an Editorial (2024) written to highlight Rare Disease Day on 29 February 2024, which notes that ‘[s] uch individuals are often a neglected and marginalised group, especially those in low-income and middle-income countries.’
Some 80% of rare diseases have a genetic cause, with almost 70% presenting in childhood. Given that such conditions are individually rare but collectively common, it is notable that some 95% lack approved treatments; the average time for an accurate diagnosis is 4·8 years; and around 30% of children with a rare disease die before the age of five years.
In terms of treatment, since the market potential for effective medication with so-called orphan drugs can be less appealing economically compared to common conditions, ‘policies and legislation have been proposed to facilitate the development of treatments for rare diseases.’ The Editorial is clear that there is an urgent need to prioritise early, and precise diagnosis allied to effective treatment, policy development, and more funding for research and development.
Gut microbiome and stroke in East Asian and European populations
Stroke is the leading cause of death and disability globally, with ischaemic stroke accounting for 87% of all stroke cases. Modifiable risk factors for stroke include hypertension, hyperlipidaemia, and smoking. Yet despite this, Cheng et al (2024) acknowledge that ‘the current prevention and treatment strategies for stroke remain limited.’
There are variations in both gut microbiome composition and stroke incidence between East Asian (EAS) and European (EU) populations, emphasising the need for population-specific investigations. To address this, Cheng et al (2024) applied a bidirectional two-sample statistical method to investigate the relationship between the gut microbiome and the onset of stroke in EAS and EU populations. They used the hitherto largest genome-wide association study summary data from consortia providing gut microbiome and stroke statistics for some 1.5 million individuals in EAS and EU populations.
The authors identified several gut microbiome species associated with subtype-specific strokes in both EAS and EU populations, with species Bacteroides pectinophilus demonstrating a protective effect against cardioembolic strokes, while the bacterial class Negativicutes ‘is associated with a slight increase in the risk of small vessel strokes’. This study, suggest the authors, ‘contributes to our understanding of the role of the gut microbiome in stroke risk, potentially informing future research, clinical practice and health policies.’
Movement patterns during gait initiation in older adults with frailty
With an aging global population, one of several challenges is frailty. The so-called Fried phenotype includes five criteria to determine whether a person is frail: exhaustion; self-reported unintentional weight loss; low physical activity; weak grip strength; and slow gait speed. Individuals meeting three or more criteria are considered ‘frail’.
Gait initiation (GI) is the transient phase from a quiet standing posture to steady state walking, and in this study Hommen et al (2024) investigated whether spatial and temporal parameters of gait initiation differ between groups of older adults with different levels of frailty, and whether fear of falling, and balance ability are correlated with the height of lifting the food during gait initiation. Sixty-one individuals – classified by the Fried phenotype – aged over 65 years performed five self-paced gait initiation trials, and data were collected using a three-dimensional passive optical motion capture system.
The study found that frail individuals had significantly longer total durations of GI compared to non-frail older adults. Further, they had shorter first step lengths compared to non-frail older adults, and pre-frail older adults also showed shorter steps compared to the non-frail group. The authors conclude that their findings ‘can guide the development of specialised exercise programmes to improve mobility in this challenging motion between static and dynamic balance.’