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Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.
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Objective To investigate the prevalence,mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by using tandem mass spectrometry screening.Methods In Hunan province,565 182 newborns who underwent tandem mass spectrometry (MS/MS) screening for IMDs were studied,including fatty acid oxidation disorders (FAODs),amino acid disorders (AAs),and organic acidemias (OAs) between March 2013 and September 2017.For the patients with positive results,a recall screening test was performed,and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD,guideline-directed medical treatment was administrated,and the follow-up outcomes was evaluated.Results A total of 107 newborns were diagnosed with IMDs,with an overall prevalence of 1 ∶ 5 282,including 65 newborns with FAODs (1 ∶ 8 695),29 newborns with AAs (1 ∶ 19 489),and 13 newborns with OAs (1 ∶ 43 476).The primary carnitine deficiency(PCD) (44 cases),hyperphenylalaninemia (HPA) (17 cases),short-chain acyl-CoA dehydrogenase deficiency (SCADD) (12 cases),citrine deficiency(NICCD)(6 cases) were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c.51C ＞ G(25.3％),c.1400C ＞ G(23.0％),and c.760C ＞ T(13.8％);in PAH gene of HPA were c.728G ＞ A (22.2％) and c.721C ＞ T(14.8％);in ACADS gene of SCADD was c.1031A ＞ G(38.9％);and in SLC25A13 gene of NICCD was c.851_854delGTAT (50.0％),respectively.The remaining IMDs were rare,and the hotspot mutations were unclear right now.During a mean follow-up of (26.1 ± 5.6) months,7 patients died,4 patients suffered an intelligent disability,whereas the remaining 96 subjects had normal physical and intelligent devdopment.Conclusions The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.
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Objective@#To investigate the prevalence, mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by using tandem mass spectrometry screening.@*Methods@#In Hunan province, 565 182 newborns who underwent tandem mass spectrometry (MS/MS) screening for IMDs were studied, including fatty acid oxidation disorders (FAODs), amino acid disorders (AAs), and organic acidemias (OAs) between March 2013 and September 2017.For the patients with positive results, a recall screening test was performed, and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD, guideline-directed medical treatment was administrated, and the follow-up outcomes was evaluated.@*Results@#A total of 107 newborns were diagnosed with IMDs, with an overall prevalence of 1∶5 282, including 65 newborns with FAODs (1∶ 8 695), 29 newborns with AAs (1∶19 489), and 13 newborns with OAs (1∶43 476). The primary carnitine deficiency(PCD)(44 cases), hyperphenylalaninemia (HPA)(17 cases), short-chain acyl-CoA dehydrogenase deficiency(SCADD)(12 cases), citrine deficiency(NICCD)(6 cases) were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c. 51C>G(25.3%), c.1400C>G(23.0%), and c. 760C>T(13.8%); in PAH gene of HPA were c. 728G>A (22.2%) and c. 721C>T(14.8%); in ACADS gene of SCADD was c. 1031A>G(38.9%); and in SLC25A13 gene of NICCD was c. 851_854delGTAT (50.0%), respectively.The remaining IMDs were rare, and the hotspot mutations were unclear right now.During a mean follow-up of (26.1±5.6) months, 7 patients died, 4 patients suffered an intelligent disability, whereas the remaining 96 subjects had normal physical and intelligent development.@*Conclusions@#The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.
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Objective@#To describe the situation and identify factors associated with malnutrition among infants and young children aged 6-23 months in poor rural areas in Hunan Province in 2015.@*Methods@#8 735 rural infants and young children aged 6-23 months in 30 poor counties of Wuling Mountains and Luoxiao Mountains in Hu'nan province were selected by township-level probability proportional to size sampling (PPS) in August 2015, infants' body length and weight were measured, and questionnaires were used to collect infants' information on personal and family, and feeding status in the past 24 h. The prevalence of stunting, underweight and wasting were calculated according to the Growth Standards of Child Aged Under 7 in China which was established in 2009 by Community Health Department of National Health and Family Planning Commission, China (formerly Chinese MOH), and the prevalence of malnutrition was calculated according to the classification of children with anthropometric failure. Multi non-conditional logistic regression model were used to analyze factors associated with malnutrition among infants and young children aged 6-23 months.@*Results@#The prevalence of malnutrition among infants and young children aged 6-23 months was 13.7% (1 198/8 735), the prevalence of stunting, underweight and wasting among infants and young children aged 6-23 months were 4.8% (419/8 735), 9.7% (849/8 735) and 6.1% (531/8 735) respectively. Compared with male group, the OR value of malnutrition for the female group was 1.16; Compared with Han ethnic group, the OR value of malnutrition for the Miao and Tujia ethnic group were 0.83 and 0.66, respectively; Compared with mother with an education level of primary school or below, the OR value of malnutrition for the mother with junior high school, senior high school and university or above education were 0.65, 0.61 and 0.56, respectively; Compared with father with an education level of primary school or below, the OR value of malnutrition for the father with senior high school and university or above education were 0.71 and 0.61 respectively; Compared with normal birth weight group, the OR value of malnutrition for the low birth weight group and high birth weight group were 2.85 and 0.27 respectively; Compared with normal delivery group, the OR value of malnutrition for the premature delivery group was 1.37; all P values<0.05.@*Conclusion@#The prevalence of malnutrition among infants and young children aged 6-23 months in poor rural areas in Hunan province in 2015 was high; Infants and young children who were female, Han ethnic, parents with low education, low birth weight and premature delivery had higher risk of malnutrition.
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Objective@#To describe the status of, and to identify the factors associated with, complementary feeding among infants and young children aged 6- 23 months in poor rural areas of Hunan Province, China.@*Methods@#A total of 8 735 infants and young children aged 6- 23 months from 30 poor rural counties in the Wuling and Luoxiao Mountains in Hunan Province were selected by township-level probability-proportional-to-size sampling in August 2015. Questionnaires were used to collect information on the feeding status of the infants in the previous 24 hours, along with personal/family information. The qualified rate of minimum dietary diversity (MDD), the minimum meal frequency (MMF) and the minimum acceptable diet (MAD) were calculated according to the WHO indicators for assessing infant and young child feeding practices. Multi non-conditional logistic regression models were used to analyze factors associated with complementary feeding among infants and young children aged 6- 23 months.@*Results@#The findings indicated that 73.9% (6 452/8 735) of infants and young children aged 6-23 months received the minimum dietary diversity, 81.6% (7 124/8 735) of infants and young children aged 6- 23 months received the minimum meal frequency and 49.0% (4 276/8 735) of infants and young children aged 6- 23 months received an acceptable diet. Compared with the boys, the OR for the MMF and MAD for the girls were 1.15 and 1.11, respectively. Compared with the 6-11 month group, the OR for the MDD for the 12-17 month and 18-23 month groups were 0.41 and 0.38, respectively; the OR for the MMF for the 12-17 month and 18-23 month groups were 1.53 and 2.46, respectively; and the OR for the MAD for the 12-17 month and 18-23 month groups were 0.60 and 0.60, respectively. Compared with the Han ethnic group, the OR for the MDD, MMF and MAD for the Miao ethnic group were 1.43, 1.72 and 1.56, respectively; for the Tujia ethnic group were 2.21, 2.02 and 2.11, respectively; and for the Dong ethnic group were 0.62, 0.61 and 0.64, respectively. When analyzing data related to the children's mothers, compared with women who gestated at the age of 25- 29, the OR for the MMF for women who gestated at less than 20 years of age was 1.59 and at greater than or equal to 35 years of age was 1.33. Compared with women with primary school education or below, the OR for the MDD, MMF and MAD for women with junior high school education were 0.77, 0.74 and 0.80, respectively; for women with senior high school education were 0.67, 0.65 and 0.68, respectively; and for women educated to university level or above were 0.66, 0.47 and 0.60, respectively. Compared with the normal birth weight group, the OR for the MMF for the low birth weight group was 0.71, and for the high birth weight group was 1.30. Compared with the caregivers who provided qualified feeding knowledge, the OR for the MDD, MMF and MAD for the caregivers who provided unqualified feeding knowledge were 1.45, 1.30 and 1.40, respectively. Compared with the breastfed group, the OR for the MDD and the MMF for the non-breastfed group were 0.53 and 0.36, respectively. All P values were <0.05.@*Conclusion@#Most infants and young children aged 6-23 months in poor rural areas of China met the MDD and MMF requirements, but fewer met the MAD requirements. The risk factors in infants and young children for complementary feeding included being of female gender, lower in age (months), of Miao or Tujia ethnicity, being born to a mother who gestated at less than 20 or ≥35 years of age, being born to a mother of low education, having a high birth weight, having a caregiver who provided unqualified feeding knowledge and being breastfed.
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Objective:To investigate the status and influential factors associated with 2-week prevalence of fever and diarrhea among infants and young children at the age of 6-23 months in poor rural areas.Methods:A total of 8 735 rural infants and young children aged 6-23 months in 30 poor counties of Wuling Mountains and Luoxiao Mountains in Hunan Province were selected in August 2015,and the questionnaires were used to collect information on the prevalence of fever and diarrhea,person and families,and feeding status.The data for prevalence of fever and diarrhea in infants and young children were calculated,and multi-non-conditional logistic regression model were used to analyze the influential factors.Results:The 2-week prevalence of fever and diarrhea in infants and young children was 20.8％ and 12.2％ respectively.The ages (OR=0.66,95％CI 0.58 to 0.75),Dong ethnicity(OR=1.42,95％CI 1.17 to 1.74) and low body weight (OR=1.31,95％CI 1.11 to 1.54) were influential factors for fever among infants and young children in poor rural areas;female (OR=0.86,95％CI 0.76 to 0.98),12-17 months (OR=0.80,95％CI 0.69 to 0.93),18-23 months (OR=0.51,95％CI 0.43 to 0.60),other ethnic minorities (OR=1.70,95％CI 1.13 to 2.56),non-complementary feeding (OR=1.65,95％CI 1.05 to 2.59) and low body weight (OR=1.39,95％CI 1.14 to 1.70) were the influential factors of diarrhea among infants and young children.Conclusion:The 2-week prevalence of fever and diarrhea among infants and young children aged 6-23 months in poor rural areas were quite serious.Low age,Dong ethnicity,and low birth weight are high risk factors for fever.Male,no addition of complementary feeding,and low birth weight are high risk factors for diarrhea.
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Objective;To explore the relationship between exposure to violence and behavior problem among rural middle school students.Methods;A cross-section study was conducted in 3620 middle school students randomly selected from rural area.A questionnaire adapted from WHO Health and Life Experience investigation and Achenbach Children Behavior Checklist(CBCL) were used to measure the exposure to violence and behavior problems respectively.Results;Of the 3620 respondents,the prevalence rate of exposure to violence in past year was 33.8%(1225/3620).The prevalence rate of behavior problems averaged 14.3%(519/3620),and students victimized reported significantly more behavior problems than those no-victimized(22.4% vs 10.9%,P