Health is complex, the solutions are long term

The debate on folic acid fortification of food to prevent neural tube defects in babies, for example, hasn't progressed in more than two decades (doi:10.1136/bmj.p1158).8 The worrying rise in perinatal suicides requires better funded services and support for women and young families to prevent deaths (doi:10.1136/bmj-2023-075414).9 And are the mandatory school inspections that harm the mental health of teaching staff even necessary (doi:10.1136/bmj.p1147)?10 The same applies to overzealous and discriminatory processes implemented by medical regulatory bodies such as the General Medical Council, despite claims of improvement by its chief executive (doi:10.1136/bmj.p1295 doi:10.1136/bmj.p1252).1112 The prevention principle would urge us to support a ban on vaping (doi:10.1136/bmj.p1266) and consider new options for reducing the number of days people experience migraines (doi:10.1136/bmj.p1249).1314 It would also induce bewilderment at the decision to wind down the UK's world leading covid surveillance network when covid-19 is still with us and future pandemics are inevitable (doi:10.1136/bmj.p1157).15 It would not, however, lend support to a non-evidence based screening programme for haemochromatosis (doi:10.1136/bmj.p1264).16 The first steps of an "avoid, reduce, reuse, recycle, research, rethink” framework (doi:10.1136/bmj-2021-069044) focus on better clinical practice that avoids low value care and inappropriate admissions and minimises blood tests and other interventions.17 This latest article in our series on achieving net zero and environmental sustainability in clinical practice examines critical care. The challenge isn't entirely a clinical one, because achieving net zero will depend on commitment across healthcare professions, engineering, waste management, hospital leadership, and beyond. A research paper assessing the value of routine monitoring of people being treated with methotrexate finds that frequency of monitoring should be adjusted according to risk, reducing the burden of work on clinical staff and making life more manageable for patients (doi:10.1136/bmj-2022-074678 doi:10.1136/bmj.p1120).1819 The difficulty here is one of getting research into practice, a timescale of 17 years by some estimates.

Concomitant COVID 19 Infection And NTDS: 68 Patient Case Series

Introduction: Documented articles have determined that viral illness during early pregnancy and several antiviral drugs are associated with an increased risk for neurodevelopmental congenital anomalies of the newborn. These include NTDs, the most common and severe malformations of spinal cord (spina bi- fida) or brain (anencephaly, encephalocele, hydrocephalus), which develop within 6 weeks of pregnancy with an incidence of one in 1000 neonates worldwide and they cause lifelong neurological complications. The aim of this study is to describe the clinical characteristics of simultaneous cases of COVID 19 in pregnant women with neural tube defects in their newborns. Patient and methods: This is descriptive study case series including cases of Neural Tube Defects when their mothers were affected with COVID-19 infection that was reported in Zahko Maternity hospital. Those in the labour unit were enrolled in this study and the cases was collected during the period 1st January 2020 and 1st January 2022. The information collected through direct interview with the mothers through questionnaire includes the information about the socio-demographic, obstetrical history and history of COVID 19 infection, severity presence of fever and type of medication received. Results: Regarding the general and obstetrical history of the patients, the current study revealed that the affected age group of mothers was as follows;28 (41.2%) of them (26-30 years), and 15 (22.1) of them (> 35). Anemia and fever in the 1st trimester were found in 54 (79.4%) of them. Alcohol intake was reported in 2 (2.9%) of them, consanguinity in 19 (27.9%) of them, female newborns constituted 38 (55.9%), gestational diabetes mellitus in 1 (1.5%), diabetes mellitus in 6 (8.8%), and hypertension in 5 (7.4%). The drugs received during pregnancy, were as follows;antibiotics;all patients 100%;antihypertensive drugs received by 14 (20.6%), antipyretics 29 (42.6%), antacids 21 (30.9%), and antifungals 16 (23.5%). Conclusions: the COVID19 infection may be blamed as a cause of NTDs, and further research about the pathophysiology is needed. [ FROM AUTHOR] Copyright of Middle East Journal of Family Medicine is the property of Medi+WORLD International Pty. Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full . (Copyright applies to all s.)

Folic acid supplementation and the complexities of blame

kabbasi@bmj.com 
Follow Kamran on Twitter @KamranAbbasi In 1999 we published a letter by Nicholas Wald and others that estimated that 45% of pregnant women had taken folic acid supplements “immediately before becoming pregnant” (doi:10.1136/bmj.319.7223.1499).1 A Medical Research Council study from 1991 had shown a “lower risk of pregnancy affected by neural tube defects” with periconceptional supplements. [...]the evidence for the benefits of breast cancer screening is disputed, and money would be better spent on promoting informed choice on the balance of benefits and harms (doi:10.1136/bmj-2021-065726).3 Is overpromoting an intervention, for instance, a form of negligence? What if you wrongly advise millions of people, on national television, about the efficacy of vaccines (https://www.sciencemediacentre.org/expert-reaction-to-a-doctor-challenging-the-health-secretary-sajid-javid-on-compulsory-vaccination-at-kings-college-hospital)?4 Or fail to stay up to date with the latest research on vaccines and myocarditis (doi:10.1136/bmj-2021-068665)?5 Perhaps you need an update on management of chronic anal fissures (doi:10.1136/bmj-2021-066834) and extreme preterm birth (doi:10.1136/bmj-2021-055924)?67 How about the company executives refusing scrutiny of their trial data while profiting by the billion (doi:10.1136/bmj.o102)?8 Or the editors, journalists, and politicians unwilling to cover the growing concern about China’s human rights abuses (doi:10.1136/bmj.o44)?9 What of Facebook’s responsibility in trying to censor legitimate concerns about the conduct of clinical trials (doi:10.1136/bmj.o95)?10 This is before we start asking about the people turning a blind eye to the crises in social care and the NHS (doi:10.1136/bmj.o107;doi:10.1136/bmj.o103;doi:10.1136/bmj.o125;doi:10.1136/bmj.o118;doi:10.1136/bmj.o99) and the impact of covid on other illnesses and death (doi:10.1136/bmj.o100).111213141516 In each and every one of these instances somebody is making decisions that could be suboptimal or placing people at risk;somebody may be found “responsible” in a court of law.

Multifactorial Rare Diseases: Can Uncertainty Analysis Bring Added Value to the Search for Risk Factors and Etiopathogenesis?

Uncertainty analysis is the process of identifying limitations in knowledge and evaluating their implications for scientific conclusions. Uncertainty analysis is a stable component of risk assessment and is increasingly used in decision making on complex health issues. Uncertainties should be identified in a structured way and prioritized according to their likely impact on the outcome of scientific conclusions. Uncertainty is inherent to the rare diseases (RD) area, where research and healthcare have to cope with knowledge gaps due to the rarity of the conditions; yet a systematic approach toward uncertainties is not usually undertaken. The uncertainty issue is particularly relevant to multifactorial RD, whose etiopathogenesis involves environmental factors and genetic predisposition. Three case studies are presented: the newly recognized acute multisystem inflammatory syndrome in children and adolescents associated with SARS-CoV-2 infection; the assessment of risk factors for neural tube defects; and the genotype-phenotype correlation in familial Mediterranean fever. Each case study proposes the initial identification of the main epistemic and sampling uncertainties and their impacts. Uncertainty analysis in RD may present aspects similar to those encountered when conducting risk assessment in data-poor scenarios; therefore, approaches such as expert knowledge elicitation may be considered. The RD community has a main strength in managing uncertainty, as it proactively develops stakeholder involvement, data sharing and open science. The open science approaches can be profitably integrated by structured uncertainty analysis, especially when dealing with multifactorial RD involving environmental and genetic risk factors.