2020年 · 第100卷第44期

chronic kidney diseases (CKD) are major diseases that endanger human health. The global prevalence of CKD is 8% ~16%^[1,2,3,4]。 The 2012 epidemiological survey results in my country showed that the prevalence of CKD was 10.8%, and the total number of patients was about 119 million^[2]； The number of patients rose to 132 million by 2017^[5]It has become a serious public health problem in China.

With the improvement of diagnosis and treatment methods, some patients are diagnosed with Gaucher's disease with mild or asymptomatic symptoms. Receiving enzyme replacement therapy as soon as possible can avoid irreversible complications. Therefore, which patients should receive enzyme replacement therapy, and when to start therapy, is worth exploring. Glucosphingosine (lyso-Gb1), a bypass metabolite of glucose ceramide, has been reported to be a sensitive and specific marker for diagnosis and therapeutic monitoring in adult patients with Gaucher disease. However, the role of lyso-Gb1 level monitoring in treated and untreated children with Gaucher disease has not been investigated. The study reviewed 81 children followed up at Shaare Zedek Medical Center from 2014 to 2018 (<18 years old), including 35 children with mild type I Gaucher's disease, 34 children with severe type I Gaucher's disease and 12 children with type III Gaucher's disease. The severity of disease in children with type I Gaucher disease is related to genotype. A total of 40 children with severe type I Gaucher disease and type III Gaucher disease received enzyme replacement therapy, and only 2 children with mild type I Gaucher disease received enzyme replacement therapy. Dried blood spot samples were collected at each visit and Lyso-Gb1 levels were measured. The level of lyso-Gb1 in children with mild type Ⅰ Gaucher disease was significantly lower than that in children with severe type Ⅰ Gaucher disease (P=0.009), there was no statistically significant difference between the level of lyso-Gb1 in children with severe type Ⅰ Gaucher disease and that in children with type Ⅲ Gaucher disease (P=0.81）。 In untreated children, lyso-Gb1 levels were inversely correlated with platelet counts. The study observed that nearly 50% of untreated children had elevated lyso-Gb1 levels during follow-up, and that elevated lyso-Gb1 levels were more prevalent in young children. lyso-Gb1 levels were inversely correlated with hemoglobin levels in treated children. Eight children treated with enzyme replacement therapy had increased lyso-Gb1 levels, and retrospective analysis found that this was partly related to medication adherence and lack of adjustment of drug dose based on weight gain. Studies suggest that lyso-Gb1 levels are related to disease severity, and can provide reference for drug efficacy and treatment compliance. The study recommends that lyso-Gb1 be monitored during routine follow-up. Gradual increases in lyso-Gb1 levels in untreated children suggest that enzyme replacement therapy should be started as soon as possible. Dose adjustment should be considered for increased lyso-Gb1 levels in treated children.

Hearing loss is an important public health problem, with an estimated 432 million adults and 1/3 of people aged 65 and over suffering from hearing loss worldwide. Hearing loss is not just a sensory disorder but can have a profound impact on people's quality of life. Therefore, there is a need for an effective and sustained hearing loss screening strategy for early detection and intervention of hearing loss in older adults. The study examined the consistency of self-reported hearing difficulties with objective hearing data and, in a representative sample of people aged 50 and over in the UK, the associated factors influencing potential contributing to inconsistencies between self-reported and objective measures through a cross-sectional analysis of survey data from the UK Longitudinal Study on Ageing Round 7. The researchers analyzed information from 8,529 adults between the ages of 50 and 89 who first completed a self-hearing assessment and agreed to an objective assessment by a nurse through a hearing screening device. The study investigated age, marital status, retirement status, socioeconomic status indicators, and lifestyle factors such as BMI, physical activity, smoking, and alcohol consumption, and analyzed associations with self-reported hearing problems and objective hearing measures in older adults. The results showed that 9,666 study participants, of whom 5,368 (55.5%) were women; Age (67.4 ± 14.4) years. The 684 (30.2%) respondents with objective measurements of hearing loss (more than 35 dB at 3.0 kHz) were not reflected in the self-reported hearing assessment. Factors associated with false positive hearing difficulties included: female (OR =1.97，95% CI: 1.18~3.28), low education (OR =1.37，95% CI: 1.26~2.55), daily or manual occupations (OR =1.43，95% CI: 1.28 to 2.61), smoking (OR =1.14，95% CI: 1.08~1.90), alcohol intake higher than the guideline low risk level (OR =1.13，95% CI: 1.11-2.34), and lack of moderate physical activity (OR =1.25，95% CI：1.03~1.42）。 Age was greatly associated with false positives for moderate to severe hearing loss; False positives of hearing impairment in people aged 65 to 74 compared with those aged 50 to 64ORThe value was 5.75 (95% CI: 1.17-8.13), 75-89 years oldORThe value was 7.08 (95% CI：1.41~9.30）。 In addition, socio-economic indicators, such as education level (OR =1.95，95% CI: 1.63~6.01) and occupation (OR =2.07，95% CI: 1.78 to 5.40), and lifestyle factors such as smoking (OR =1.46，95% CI: 1.25 to 2.48) and alcohol intake higher than the guideline low-risk level (OR =1.86，95% CI: 1.67~5.12) are factors related to false alarms of moderate and severe hearing loss.