OBJECTIVE: Diagnosis rate of familial hypercholesterolemia (FH) remained less than 10 % globally and the economic evaluation results of different FH screening strategies varied. This study aimed to systematically review the methodology and results of cost effectiveness analysis (CEA) of FH screening, which will provide evidence support for health-related decision-making.
METHODS: The Medline/PubMed, Embase, Cochrane Library, Web of science, National Health Service Economic Evaluation Database (NHSEED) and CEA Registry databases were electronically searched to collect full economic evaluation from the establishment of the databases to June 30, 2022. The quality of included studies was evaluated by the Consolidated Health Economic Evaluation Reporting Standards statement 2022 (CHEERS 2022) checklist.
RESULTS: Among 232 retrieved studies, 18 economic evaluations were included and all of them are from developed countries, with an average quality score of 0.73. The decision tree model and/or Markov model were constructed by thirteen articles (72 %). Twelve studies (67 %) adopted the healthcare perspective and the lifetime horizon to compare the costs and health outcome of different screening strategies. The results of eight studies indicated that cascade screening was a cost-effective strategy compared with no screening, which was more pronounced in younger adults. Universal screening in young adults aged 16 years or 18-40 years (n=3) and in children aged 1-2 years combined with reverse cascade screening (n=3) are both cost-effective. The probability of being cost-effective for cascade screening (n=6) and universal screening (n=1) of young aged 18-40 years were greater than 95 %.
CONCLUSIONS: Our review demonstrated the economic advantages of cascade screening, universal screening of young adults, and universal screening of newborns combined with reverse cascade screening. Further health economic evaluation is needed in children and in low- and middle-income countries.

Lynch syndrome (LS), caused by germline mutations in the mismatch repair genes, is the most common hereditary colorectal cancer. While LS is also associated with various cancers, early detection of the proband is meaningful for tumor prevention, treatment, and familial management. It has been a dramatic shift on the screening approaches for LS. As the rapid development of the molecular biological methods, a comprehensive understanding of the LS screening strategies will help to improve the clinical care for this systematic disease. The current screening strategies have been well validated but mainly by evidence derived from western population, lacking consideration of the ethnic heterogeneity, which hampers the universality and clinical application in China. Hence, this review will focus on the Chinese experience in LS screening, aiming to help better understand the ethnic diversity and further optimize the screening strategies.

Due to the challenge of hundreds of potential mycotoxins that may be present in cereals, a rapid and reliable ultra-high performance liquid chromatography coupled with quadrupole-time-of-flight tandem mass spectrometry (UHPLC-Q-TOF MS) technique was developed for universal screening of 200 mycotoxins (prototype, emerging and related derivatives) in cereals. With satisfactory sensitivity of accurate mass full-spectrum acquisition, it is feasible to preliminarily identify tentative untargeted mycotoxins with a large range of polarity without reference materials. The current screening method was also validated by the determination of 33 typical mycotoxins, and the screening detection limits in the range of 0.5-100 μg kg-1 were established in cereals. In total, 138 stored samples were contaminated by 46 mycotoxins and their metabolites, some of which were firstly reported in cereals, posing emerging potential health risks to humans and animals. Furthermore, the accumulation, transformation and degradation mechanisms of typical mycotoxins in cereals were investigated under real storage conditions.

The prevalence of Lynch syndrome (LS) varies significantly in different populations, suggesting that ethnic features might play an important role. We enrolled 3330 consecutive Chinese patients who had surgical resection for newly diagnosed colorectal cancer. Universal screening for LS was implemented, including immunohistochemistry for mismatch repair (MMR) proteins, BRAFV600E mutation test and germline sequencing. Among the 3250 eligible patients, MMR protein deficiency (dMMR) was detected in 330 (10.2%) patients. Ninety-three patients (2.9%) were diagnosed with LS. Nine (9.7%) patients with LS fulfilled Amsterdam criteria II and 76 (81.7%) met the revised Bethesda guidelines. Only 15 (9.7%) patients with absence of MLH1 on IHC had BRAFV600E mutation. One third (33/99) of the MMR gene mutations have not been reported previously. The age of onset indicates risk of LS in patients with dMMR tumors. For patients older than 65 years, only 2 patients (5.7%) fulfilling revised Bethesda guidelines were diagnosed with LS. Selective sequencing of all cases with dMMR diagnosed at or below age 65 years and only of those dMMR cases older than 65 years who fulfill revised Bethesda guidelines results in 8.2% fewer cases requiring germline testing without missing any LS diagnoses. While the prevalence of LS in Chinese patients is similar to that of Western populations, the spectrum of constitutional mutations and frequency of BRAFV600E mutation is different. Patients older than 65 years who do not meet the revised Bethesda guidelines have a low risk of LS, suggesting germline sequencing might not be necessary in this population.

We examined the risk for Group B streptococcus (GBS)-related diseases in newborns born to mothers who participated in a universal GBS screening program and to determine whether differences are observed in factors affecting the morbidity for neonatal early-onset GBS-related diseases.
This is a retrospective study and the study subjects were women who had undergone GBS screening and who gave birth naturally and their newborns between April 15, 2012 and December 31, 2013. Data from the GBS screening system database and the National Health Insurance database were collected to calculate the GBS prevalence in pregnant women and morbidity of newborns with early-onset GBS-related diseases.
The GBS prevalence in pregnant women who gave birth naturally was 19.58%. The rate of early-onset infection caused by GBS in newborns decreased from the original 0.1% to 0.02%, a decrease of as high as 80%. After the implementation of the universal GBS screening program, only three factors, including positive GBS screening result (OR = 2.84), CCI (OR = 2.45), and preterm birth (OR = 4.81) affected the morbidity for neonatal early-onset GBS-related diseases, whereas other factors had no significant impact.
The implementation of the universal GBS screening program decreased the infection rate of neonatal early-onset GBS diseases. The effects of socioeconomic factors and high-risk pregnancy on early-onset GBS infections were weakened.