[Familial aggregation of human hookworm infections in Sichuan Province].

OBJECTIVE: To investigate the family aggregation of human hookworm infections in Sichuan Province and to identify its influencing factors, so as to provide insights into management of hookworm infections. METHODS: Three to four counties (districts) were sampled from basins, hilly regions and mountainous regions around the basins in Sichuan Province from 2017 to 2022 as fixed survey sites, and 17 to 30 counties (districts) were selected as mobile survey sites. At least 1 000 permanent residents at ages of 3 years and older were sampled from each survey site, and hookworm eggs were detected in human stool samples using the Kato-Katz technique. Subjects with 2 and more family members and at least 2 individuals diagnosed with hookworm infections in the county (district) where they lived were selected, and the familial aggregation of hookworm infections was analyzed using the test of goodness of fit for binomial distribution. In addition, the knowledge and practice of hookworm disease control were investigated among residents in Hejiang County and Wutongqiao District, Leshan City, Sichuan Province in 2021 and 2022, and the difference in the knowledge and practice of hookworm disease control was compared between members with and without familial aggregation of hookworm infections. RESULTS: A total of 66 812 residents from 25 196 households were sampled from main endemic areas of hookworm diseases in Sichuan Province from 2017 to 2022 for detection of hookworm infections, and 4 403 infections were identified (6.59% prevalence). The distribution of human hookworm infections in Sichuan Province did not fit the binomial distribution, and showed family aggregations (χ2 = 2 116.759, P < 0.001). Family aggregation of human hookworm infections was found in endemic areas with 1% and higher prevalence of human hookworm infections (χ2 = 136.006 to 428.738, all P values < 0.001), and family aggregation of human hookworm infections was identified in different years (χ2 = 87.615 to 471.838, all P values < 0.001) and in different terrains of endemic areas (χ2 = 8.423 to 1 144.176, all P values < 0.001). The members with hookworm infections had median eggs per gram of 180 (interquartile range, 780) in aggregated families and 72 (102) in non-aggregated families (Z = -2.686, P < 0.05). The proportion of members in families with aggregation of hookworm infections who knew the preventive measures of hookworm disease was significantly lower than in non-aggregated families (24.49% vs. 51.72%; χ2 = 10.262, P < 0.05), and the proportion of members in families with aggregation of hookworm infections who often worked barefoot on the ground was significantly higher than in non-aggregated families (30.61% vs. 13.25%; χ2 = 6.289, P < 0.05). CONCLUSIONS: There is a familial aggregation of human hookworm infections in Sichuan Province, and awareness of preventive measures for hookworm disease and frequent working barefoot on the ground are associated with familial aggregation of hookworm infections.

[Spatio-temporal distribution characteristics of soil-transmitted nematodiasis in Sichuan Province from 2016 to 2021].

OBJECTIVE: To investigate the trends in the prevalence of soil-transmitted nematode infections and the spatio-temporal distribution characteristics of soil-transmitted nematodiasis in Sichuan Province from 2016 to 2021, so as to provide the evidence for formulating the soil-transmitted nematodiasis elimination strategy in Sichuan Province. METHODS: The soil-transmitted nematodiasis surveillance data in Sichuan Province from 2016 to 2021 were collected, and the epidemic trend of soil-transmitted nematode infections was identified. The distribution maps of soil-transmitted nematode infections in Sichuan Province were plotted to identify their spatial distribution characteristics. In addition, the spatial clusters of soil-transmitted nematode infections were detected using globa and local spatial autocorrelation analyses. RESULTS: The prevalence of soil-transmitted nematode infections appeared a decline with time in Sichuan Province from 2016 to 2021 (χ2= 400.24, P < 0.01). Global spatial autocorrelation analysis identified positive spatial autocorrelations in the prevalence of soil-transmitted nematode infections (Moran's I = 0.322, Z = 16.293, P < 0.01), hookworm infections (Moran's I = 0.425, Z = 21.290, P < 0.01), Ascaris lumbricoides infections (Moran's I = 0.102, Z = 5.782, P < 0.01) and Trichuris trichiura infections (Moran's I = 0.084, Z = 6.873, P < 0.01). Local spatial autocorrelation analysis showed that the high-high clusters of soil-transmitted nematode infections were mainly located in 37 counties (cities, districts) of Sichuan Province, and the high-high clusters of hookworm, A. lumbricoides and T. trichiura infections were mainly identified in 39 counties (cities, districts) in mountainous areas around Sichuan Basin and hilly areas, 9 counties (cities, districts) in mountainous areas in southwestern Sichuan Province, and 8 counties (cities, districts) in mountainous areas in southwestern Sichuan Province, respectively. CONCLUSIONS: The prevalence of soil-transmitted nematode infections appeared a tendency towards a decline in Sichuan Province from 2016 to 2021, which showed spatial clusters. The management of soil-transmitted nematodiasis requires to be reinforced in high-risk areas of Sichuan Province with adaptations to local epidemiological features.

A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.

Amelogenesis imperfecta (AI) is a group of genetic disorders of defective dental enamel. Mutation of AMELX encoding amelogenin on the X chromosome is a major cause of AI. Here we report a Chinese family with hypoplastic and hypomineralized AI. Whole exome analysis revealed a novel mutation c.185delC in exon 5 of AMELX causing the frame shift p.Pro62ArgfsTer47 (or p.Pro62Argfs*47). By sequencing of polymerase chain reaction products and T-vector clones, the mutation was confirmed as homozygous in the proband, hemizygous in her father, and heterozygous in her mother. The proband and her father had small and yellowish teeth with thin and rough enamel that was radiographically indistinguishable from the underlying dentin. Scanning electronic microscopy of 1 maternal tooth showed cracks and exposed loosely packed enamel prisms in affected areas. Consistent with a 25:75 skewing of X inactivation in the peripheral blood DNA as measured by androgen receptor allele methylation, the surface of the mother's tooth had alternating vertical ridges of transparent normal and white chalky enamel in a 34:66 ratio. In summary, this study provides one of the few phenotypic comparisons of hemizygous and homozygous AMELX mutations and suggests that the skewing of X inactivation in AI contributes to the phenotypic variations in heterozygous carriers of X-linked AI.

The phase transition in annealed mechanically alloyed Fe - Cu.

Using Mössbauer spectra and x-ray diffraction patterns, annealed mechanically alloyed Fe - Cu has been investigated in this paper. It is found that in [Formula: see text], after it has been milled, fcc-Cu has transformed into bcc-Cu, and some Cu atoms have diffused into the Fe. After the alloy has subsequently been annealed, it is found that bcc-Cu has transformed back into fcc-Cu, while the Cu atoms in the Fe have been separated. In [Formula: see text], after being milled, an fcc-Fe-rich phase has been formed, and after the alloy has subsequently been annealed, this has transformed back to bcc-Fe. The shorter the milling time and the higher the annealing temperature, the faster the transformation. In [Formula: see text], after it has been annealed, the fcc-Fe-rich phase has transformed to bcc-Fe also, and the fcc-Cu-rich phase remains when the annealing temperature increases. All of these results show that the fcc-Fe-rich phase in the milled samples is a metastable phase - it will transform to stable bcc-Fe when it is annealed - while the long-milling-product fcc-Cu-rich phase is a stable phase.