OBJECTIVE: To assess the value of whole exome sequencing (WES) for the diagnosis of early-onset genetic diseases among infants aged 0 to 6 month in Ningbo region. METHODS: 268 infants presented at the Women and Children's Hospital Affiliated to Ningbo University from January 2022 to June 2024 undergoing WES-based genetic testing were enrolled. Peripheral blood samples were collected from the infants and their parents and subjected to WES. Pathogenic variants were identified by clinical manifestations. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. EC2023-017). RESULTS: Among the 268 infants, 124 (46.3%) had phenotype-explaining genetic variants. For 42 family-based WES tests, 20 (47.62%) were abnormal, whilst in 226 single-person WES tests, 104 (46.02%) had abnormalities, with 76 (33.63%) verified by parental testing. In 96 fully family-verified cases, 31 were de novo, 40 were parent-inherited, 25 were single-parent-inherited. These included 35 inborn metabolic errors, 28 rare syndromes, 9 neurodevelopmental disorders, 4 musculoskeletal diseases, 5 congenital deafness, 2 mitochondrial diseases, 4 endocrine diseases, and 9 others. Among these, there were 7 pathogenic copy number variations (all deletions), 3 chromosomal abnormalities, and 85 single-nucleotide variations. One case of Beckwith-Wiedemann syndrome was detected by methylation MLPA. Among the single-nucleotide variants, 114 pathogenic/likely pathogenic variants were identified in 61 genes, with common ones including missense variants (64.04%), frameshifting variants (20.18%) and splicing variants (4.39%). CONCLUSION WES can offer effective diagnosis for hereditary diseases with specific/non-specific manifestations. For early-age infants, higher detection rates may be attained for inborn metabolic errors, rare syndromes, neurodevelopmental disorders, congenital deafness, and musculoskeletal diseases. Compared with single-person WES, family-based WES can attain a higher diagnostic efficiency.
Humans ; Exome Sequencing/methods* ; Infant ; Female ; Male ; Infant, Newborn ; Genetic Diseases, Inborn/diagnosis* ; Genetic Testing/methods*

Objective To investigate the situation of hepatitis B immune blocking and the growth and development of hepatitis B exposed children within one year after birth, and to provide evidence for formulating and optimizing measures for maternal and infant blocking in Wenzhou. Methods The hepatitis B infection status during pregnancy and birth was collected, hepatitis B immunoglobulin and vaccine were analyzed, and a follow-up on the immune blocking effect, growth and development, and the nutritional status of children exposed to hepatitis B was conducted. Statistical analysis of data was carried out through SPSS 26.0. Results In 2021, 6.07% of newborns in Wenzhou were exposed to hepatitis B, of which 28.37% were highly exposed children. The prevalence rates for males and females were 6.42% and 5.70%, respectively, and the difference was statistically significant (χ²=13.744, P<0.001). The prevalence rates in mountainous and non-mountainous counties were 6.35% and 5.94%, respectively, and the difference was statistically significant (χ²=5.72, P < 0.001). In 2021, the mother-to-child transmission rate of children exposed to hepatitis B was 0.54‰. There were no significant differences in the height, weight, hemoglobin and neuropsychological development of hepatitis B exposed children compared with non-exposed children (P < 0.001). Conclusion The number of children exposed to hepatitis B in mountainous counties is significantly higher than that in non-mountainous counties in Wenzhou, and the number of men is significantly higher than that of women. The proportion of highly exposed children is relatively high. The effect of mother-to-child blocking is good, and there is no significant difference between the growth and development of children exposed to hepatitis B and no-exposed children during follow-up.

BACKGROUND: Spicy food consumption has been reported to be inversely associated with mortality from multiple diseases. However, the effect of spicy food intake on the incidence of vascular diseases in the Chinese population remains unclear. This study was conducted to explore this association. METHODS: This study was performed using the large-scale China Kadoorie Biobank (CKB) prospective cohort of 486,335 participants. The primary outcomes were vascular disease, ischemic heart disease (IHD), major coronary events (MCEs), cerebrovascular disease, stroke, and non-stroke cerebrovascular disease. A Cox proportional hazards regression model was used to assess the association between spicy food consumption and incident vascular diseases. Subgroup analysis was also performed to evaluate the heterogeneity of the association between spicy food consumption and the risk of vascular disease stratified by several basic characteristics. In addition, the joint effects of spicy food consumption and the healthy lifestyle score on the risk of vascular disease were also evaluated, and sensitivity analyses were performed to assess the reliability of the association results. RESULTS: During a median follow-up time of 12.1 years, a total of 136,125 patients with vascular disease, 46,689 patients with IHD, 10,097 patients with MCEs, 80,114 patients with cerebrovascular disease, 56,726 patients with stroke, and 40,098 patients with non-stroke cerebrovascular disease were identified. Participants who consumed spicy food 1-2 days/week (hazard ratio [HR] = 0.95, 95% confidence interval [95% CI] = [0.93, 0.97], P <0.001), 3-5 days/week (HR = 0.96, 95% CI = [0.94, 0.99], P = 0.003), and 6-7 days/week (HR = 0.97, 95% CI = [0.95, 0.99], P = 0.002) had a significantly lower risk of vascular disease than those who consumed spicy food less than once a week ( Ptrend <0.001), especially in those who were younger and living in rural areas. Notably, the disease-based subgroup analysis indicated that the inverse associations remained in IHD ( Ptrend = 0.011) and MCEs ( Ptrend = 0.002) risk. Intriguingly, there was an interaction effect between spicy food consumption and the healthy lifestyle score on the risk of IHD ( Pinteraction = 0.037). CONCLUSIONS Our findings support an inverse association between spicy food consumption and vascular disease in the Chinese population, which may provide additional dietary guidance for the prevention of vascular diseases.
Humans ; Male ; Female ; Prospective Studies ; Middle Aged ; Aged ; Vascular Diseases/etiology* ; Risk Factors ; China/epidemiology* ; Adult ; Proportional Hazards Models ; Cerebrovascular Disorders/epidemiology* ; East Asian People

Objective:To assess the value of whole exome sequencing (WES) for the diagnosis of early-onset genetic diseases among infants aged 0 to 6 month in Ningbo region.Methods:268 infants presented at the Women and Children′s Hospital Affiliated to Ningbo University from January 2022 to June 2024 undergoing WES-based genetic testing were enrolled. Peripheral blood samples were collected from the infants and their parents and subjected to WES. Pathogenic variants were identified by clinical manifestations. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. EC2023-017).Results:Among the 268 infants, 124 (46.3%) had phenotype-explaining genetic variants. For 42 family-based WES tests, 20 (47.62%) were abnormal, whilst in 226 single-person WES tests, 104 (46.02%) had abnormalities, with 76 (33.63%) verified by parental testing. In 96 fully family-verified cases, 31 were de novo, 40 were parent-inherited, 25 were single-parent-inherited. These included 35 inborn metabolic errors, 28 rare syndromes, 9 neurodevelopmental disorders, 4 musculoskeletal diseases, 5 congenital deafness, 2 mitochondrial diseases, 4 endocrine diseases, and 9 others. Among these, there were 7 pathogenic copy number variations (all deletions), 3 chromosomal abnormalities, and 85 single-nucleotide variations. One case of Beckwith-Wiedemann syndrome was detected by methylation MLPA. Among the single-nucleotide variants, 114 pathogenic/likely pathogenic variants were identified in 61 genes, with common ones including missense variants (64.04%), frameshifting variants (20.18%) and splicing variants (4.39%). Conclusion:WES can offer effective diagnosis for hereditary diseases with specific/non-specific manifestations. For early-age infants, higher detection rates may be attained for inborn metabolic errors, rare syndromes, neurodevelopmental disorders, congenital deafness, and musculoskeletal diseases. Compared with single-person WES, family-based WES can attain a higher diagnostic efficiency.

Objective:To analyze the epidemiological characteristics and trend of hospitalization of the patients with herpes zoster in Beijing from 2017 to 2022.Methods:In this retrospective study, the information of hospitalization of herpes zoster patients were collected from all medical institutions at the first level and above in Xicheng, Changping, and Miyun districts of Beijing. The age and gender specific hospitalization rates and age-standardized hospitalization rates were calculated. Joinpoint regression model was used to explore the trend of the hospitalization rates, and the influencing factors of the hospital stay length and complications were analyzed.Results:The age-standardized hospitalization rate of the patients with herpes zoster was 10.82/100 000-18.43/100 000 in Beijing from 2017 to 2022 [annual percent change (APC) =5.86%, 95% CI: -2.80%-15.98%]. The age-standardized hospitalization rate of the cases with herpes zoster as the main diagnosis showed an upward trend (APC=11.35%, 95% CI: 7.21%-16.23%). The age-standardized hospitalization rate showed an upward trend in women (APC=14.34%, 95% CI: 7.95%-22.37%). The hospitalization rate showed a downward trend in age group 30-39 years (APC=-24.92%, 95% CI: -48.56% - -1.85%) and showed upward trends in age group 70-79 years and 80-109 years (APC=23.18%, 95% CI: 13.53%-35.58%; APC=4.90%, 95% CI: 1.18%-9.19%). Complications occurred in 66.28% (680/1 026) of the patients. The median hospital stay length was 9 (5,15) days, and the patients with high age (≥80 years) and two or more complications had longer hospital stay, which were 12 (6, 23) and 14 (7, 27) days respectively ( P<0.001). Conclusions:The hospitalization rate in women and the elderly aged ≥70 years with herpes zoster as the main diagnosis showed upward trends in Beijing in recent years. The elderly aged ≥80 years usually had longer hospital stay, showing a relatively disease burden level. More attention should be paid to development of intervention strategies, such as vaccine, for this population.

Objective:To analyze the epidemiological characteristics and trend of hospitalization of the patients with herpes zoster in Beijing from 2017 to 2022.Methods:In this retrospective study, the information of hospitalization of herpes zoster patients were collected from all medical institutions at the first level and above in Xicheng, Changping, and Miyun districts of Beijing. The age and gender specific hospitalization rates and age-standardized hospitalization rates were calculated. Joinpoint regression model was used to explore the trend of the hospitalization rates, and the influencing factors of the hospital stay length and complications were analyzed.Results:The age-standardized hospitalization rate of the patients with herpes zoster was 10.82/100 000-18.43/100 000 in Beijing from 2017 to 2022 [annual percent change (APC) =5.86%, 95% CI: -2.80%-15.98%]. The age-standardized hospitalization rate of the cases with herpes zoster as the main diagnosis showed an upward trend (APC=11.35%, 95% CI: 7.21%-16.23%). The age-standardized hospitalization rate showed an upward trend in women (APC=14.34%, 95% CI: 7.95%-22.37%). The hospitalization rate showed a downward trend in age group 30-39 years (APC=-24.92%, 95% CI: -48.56% - -1.85%) and showed upward trends in age group 70-79 years and 80-109 years (APC=23.18%, 95% CI: 13.53%-35.58%; APC=4.90%, 95% CI: 1.18%-9.19%). Complications occurred in 66.28% (680/1 026) of the patients. The median hospital stay length was 9 (5,15) days, and the patients with high age (≥80 years) and two or more complications had longer hospital stay, which were 12 (6, 23) and 14 (7, 27) days respectively ( P<0.001). Conclusions:The hospitalization rate in women and the elderly aged ≥70 years with herpes zoster as the main diagnosis showed upward trends in Beijing in recent years. The elderly aged ≥80 years usually had longer hospital stay, showing a relatively disease burden level. More attention should be paid to development of intervention strategies, such as vaccine, for this population.

Objective:To observe the clinical efficacy of intradermal needles and moxibustion combined with bladder irrigation in the treatment of post-stroke urinary retention and its effect on the patient's quality of life and depressive mood.Methods:A total of 80 patients with post-stroke urinary retention were divided into an observation group and a control group by the random number table method,with 45 patients in each group.Both groups received the same basic treatment.In the control group,bladder irrigation was added;in the observation group,intradermal needles and moxibustion were added in addition to the treatment in the control group.After 2 weeks of continuous treatment,the clinical efficacy and the occurrence of adverse events were compared between the two groups,and the changes in the traditional Chinese medicine(TCM)symptom score,urinary function,quality of life,and depressive mood were observed.Results:The total effective rate of the observation group was higher than that of the control group(P<0.05).After treatment,the TCM symptom score,residual urine volume,subjective quality of life profile score,and self-rating depression scale score of both groups were significantly reduced(P<0.05),and those of the observation group were significantly lower than those of the control group(P<0.05).Single maximal voiding volume,maximum cystometric capacity,and intravesical pressure were significantly increased in both groups(P<0.05)and were significantly higher in the observation group than in the control group(P<0.05).No needle shock,needle breakage,or allergic reaction happened in the two groups.Conclusion:Based on conventional treatment,the efficacy of intradermal needles and moxibustion combined with bladder irrigation in the treatment of post-stroke urinary retention was better than that of bladder irrigation.It was effective in reducing clinical symptoms,improving urinary function,improving quality of life and depression,and had a good safety profile.

Objective To analyse medication patterns for treating menstrual disorders with disharmony between the Chong and Ren pattern based on data mining.Methods Medical records from the gynecological outpatient department of Wenzhou TCM Hospital of Zhejiang Chinese Medical University from October 2023 to March 2024 were collected.A database was established based on Traditional Chinese Medicine Inheritance Computer System(V3.0),and data mining methods such as frequency statistics,association rule analysis and cluster analysis were used to analyze the medication patterns of traditional Chinese medicine in the treatment of menstrual disorders with disharmony between the Chong and Ren pattern.Results A total of 9003 effective prescriptions were collected,involving 410 Chinese medicinal herbs.The top five herbs by frequency were Danggui,Tusizi,Cuxiangfu,Xuduan,and Danshen.Tonic medicines,circulate blood and transform stasis medicines and interior heat-clearing medicines were used more frequently.The four qi were mainly warm and cold,the five lavours were mainly bitter and sweet,and the channel were mainly liver and spleen channel.By association analysis,a combination of drugs with Tusizi,Gouqizi,Danggui,Xuduan,Cuxiangfu were obtained.After cluster analysis,five groups of effective class squares were obtained.Conclusion Treatment of menstrual disorders with disharmony between the Chong and Ren pattern is used to tonic medicines,circulate blood and transform stasis medicines and interior heat-clearing medicines,pay attention to the balance of liver,spleen,kidney.The prescribing strategy considers both superficial and underlying conditions,employs a gradual rather than abrupt approach,integrates both cold and warm remedies,and ensures mutual reinforcement and restriction among the treatments.

Objective To analyse medication patterns for treating menstrual disorders with disharmony between the Chong and Ren pattern based on data mining.Methods Medical records from the gynecological outpatient department of Wenzhou TCM Hospital of Zhejiang Chinese Medical University from October 2023 to March 2024 were collected.A database was established based on Traditional Chinese Medicine Inheritance Computer System(V3.0),and data mining methods such as frequency statistics,association rule analysis and cluster analysis were used to analyze the medication patterns of traditional Chinese medicine in the treatment of menstrual disorders with disharmony between the Chong and Ren pattern.Results A total of 9003 effective prescriptions were collected,involving 410 Chinese medicinal herbs.The top five herbs by frequency were Danggui,Tusizi,Cuxiangfu,Xuduan,and Danshen.Tonic medicines,circulate blood and transform stasis medicines and interior heat-clearing medicines were used more frequently.The four qi were mainly warm and cold,the five lavours were mainly bitter and sweet,and the channel were mainly liver and spleen channel.By association analysis,a combination of drugs with Tusizi,Gouqizi,Danggui,Xuduan,Cuxiangfu were obtained.After cluster analysis,five groups of effective class squares were obtained.Conclusion Treatment of menstrual disorders with disharmony between the Chong and Ren pattern is used to tonic medicines,circulate blood and transform stasis medicines and interior heat-clearing medicines,pay attention to the balance of liver,spleen,kidney.The prescribing strategy considers both superficial and underlying conditions,employs a gradual rather than abrupt approach,integrates both cold and warm remedies,and ensures mutual reinforcement and restriction among the treatments.

Objective:To observe the clinical efficacy of intradermal needles and moxibustion combined with bladder irrigation in the treatment of post-stroke urinary retention and its effect on the patient's quality of life and depressive mood.Methods:A total of 80 patients with post-stroke urinary retention were divided into an observation group and a control group by the random number table method,with 45 patients in each group.Both groups received the same basic treatment.In the control group,bladder irrigation was added;in the observation group,intradermal needles and moxibustion were added in addition to the treatment in the control group.After 2 weeks of continuous treatment,the clinical efficacy and the occurrence of adverse events were compared between the two groups,and the changes in the traditional Chinese medicine(TCM)symptom score,urinary function,quality of life,and depressive mood were observed.Results:The total effective rate of the observation group was higher than that of the control group(P<0.05).After treatment,the TCM symptom score,residual urine volume,subjective quality of life profile score,and self-rating depression scale score of both groups were significantly reduced(P<0.05),and those of the observation group were significantly lower than those of the control group(P<0.05).Single maximal voiding volume,maximum cystometric capacity,and intravesical pressure were significantly increased in both groups(P<0.05)and were significantly higher in the observation group than in the control group(P<0.05).No needle shock,needle breakage,or allergic reaction happened in the two groups.Conclusion:Based on conventional treatment,the efficacy of intradermal needles and moxibustion combined with bladder irrigation in the treatment of post-stroke urinary retention was better than that of bladder irrigation.It was effective in reducing clinical symptoms,improving urinary function,improving quality of life and depression,and had a good safety profile.