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Chinese Journal of Endemiology ; (12): 801-804, 2020.
Article in Chinese | WPRIM | ID: wpr-866224


Objective:To understand the current situation of children's fluorosis in the coal-burning-borne endemic fluorosis areas (abbreviated as coal-burning fluorosis) in Suojia Miao, Yi and Hui Township (Suojia Township for short) in Liuzhi Tequ, Guizhou Province, and to provide scientific basis for formulating prevention and control strategies and measures.Methods:In 2019, the cluster sampling method was adopted to select children aged 8-12 years old from 6 primary schools in Suojia Township, Liuzhi Tequ, Guizhou Province to conduct a questionnaire survey to collect basic information, and perform dental fluorosis examination and indexing in accordance with the "Diagnosis of Dental Fluorosis" standards. Immediate urine samples were collected from children in April and October, and urinary fluoride content was determined by ion selective electrode method.Results:A total of 1 381 children aged 8-12 years old were investigated, aged (9.84 ± 1.38) years old, including 679 boys and 702 girls. A total of 625 children with dental fluorosis were detected, and the detection rate was 45.26%; the dental fluorosis index was 1.00, and the prevalence intensity was moderate; the main score of dental fluorosis was extremely mild, accounting for 37.00% (511/1 381). The detection rates of dental fluorosis in children aged 8 to 12 years old were 35.10% (106/302), 35.83% (115/321), 47.96% (129/269), 55.23% (153/277), and 57.55% (122/212), respectively; the difference between different ages was statistically significant (χ 2 = 48.949, P < 0.01), and the detection rate of dental fluorosis in children increased with age(χ 2trend = 45.254, P < 0.01).The detection rates of dental fluorosis in boys and girls were 43.59% (296/679) and 46.87% (329/702), respectively, and there was no significant difference between different genders (χ 2 = 1.492, P > 0.05). In April and October, 123 and 107 urine samples of children aged 8-12 years old were tested. The geometric mean of urinary fluoride was 1.55 and 0.47 mg/L, respectively. The urinary fluoride level in April was higher than the normal range (< 1.40 mg/L). Conclusions:Suojia Township in Liuzhi Tequ of Guizhou Province is still a fluorosis area, and there is a big difference in urinary fluorine level in different months, which indicates that the residents in this area may have intermittent high fluorine intake, and prevention and control of endemic fluorosis should be further strengthened.

Article in Chinese | WPRIM | ID: wpr-771955


OBJECTIVE@#To explore the genetic etiology for a child with ocular dysplasia.@*METHODS@#Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations.@*RESULTS@#Ultrasonography revealed cataracts in both eyes of the child. MRI showed increased extracranial space, supratentorial ventricular dilatation, reduced white matter volume, increased T2WI signal and a large occipital cisterna. CMA showed that the patient carried a 249 kb microdeletion at Xq25q26.1 region, namely [hg19]arrXq25q26.1 (128 652 372 - 128 901 629)×0.@*CONCLUSION@#The child was diagnosed with Lowe syndrome, for which the 249 kb microdeletion at Xq25q26.1 is probably accountable.

Child , Chromosome Aberrations , DNA Copy Number Variations , Humans , Microarray Analysis , Oculocerebrorenal Syndrome
Article in Chinese | WPRIM | ID: wpr-771942


OBJECTIVE@#To explore the genetic basis for three patients with development delay and to correlate their clinical phenotypes with genetic findings.@*METHODS@#The karyotypes of the probands and their parents were analyzed by conventional G-banding. Chromosomal microarray analysis (CMA) was used to detect microdeletion and microduplication.@*RESULTS@#No kartotypic abnormality was detected in the patients and their parents. CMA analysis identified a de novo 3.10 Mb deletion on chromosome 15q24.1q24.2 in case 1, a de novo 3.14 Mb deletion at 15q24.1q24.2 in case 2, and a 3.13 Mb deletion at 15q24.1q24.2 in case 3. All deletions have encompassed the CPLX3,SEMA7A and SIN3A genes.@*CONCLUSION@#The three patients were diagnosed with 15q24 microdeletion syndrome. CPLX3,SEMA7A and SIN3A may be the key genes responsible for this syndrome.

Adaptor Proteins, Signal Transducing , Genetics , Antigens, CD , Genetics , Child , Chromosome Deletion , Chromosome Disorders , Genetics , Chromosomes, Human, Pair 15 , Genetics , GPI-Linked Proteins , Genetics , Humans , Intellectual Disability , Genetics , Repressor Proteins , Genetics , Semaphorins , Genetics
Chinese Journal of Endemiology ; (12): 561-564, 2014.
Article in Chinese | WPRIM | ID: wpr-456958


Objective To analyze high alumina deformation Micro-CT findings of bone in patients with skeletal fluorosis in Shuicheng Guizhou Province.Methods Bone deformation children,youth and middle-aged patients with fluorosis in Goumi and Zhichang Townships Shuicheng County,coal-burning pollution endemic fluorosis areas,were selected as case group,and non-bone deformation children,youth,and children from non-fluorosis endemic areas as controls.Tibia and the anterior superior iliac spine tissue were obtained through orthopedic surgery and etiology examination,and resin embedded without decalcification.Resin-embedded bone tissue was scanned using micro-CT; relevant parameters were analyzed with ABA special bone analysis software INVEON Research Workplace and three dimensional reconstruction processing software Micview.Results ①The anterior superior iliac spine cancellous bone:compared between bone deformation children and bone non-deformation children in the diseased areas,there was an increasing tendency of the following items:relative volume of trabecular bone(0.337% vs 0.229%),absolute thickness (μm:139 vs 133),quantities within a unit length (number/mm:2.44 vs 1.72),density woven degree of trabecular bone(number/mm:2.22 vs 1.54) and bone mineral density(mg/cm3:1 033 vs 918),while relative bone area of trabecular bone(mm2/mm3:14.5 vs 15.1) and space pitch (μm:0.274 vs 0.567) declined.Compared between bone deformation youth and bone non-deformation youth in the diseased areas,relative volume of trabecular bone was lower(0.217% vs 0.437%),relative area increased (mm2/mm3:16.9 vs 11.6),absolute thickness reduced(μm:118 vs 172),trabecular number reduced (number/mm:1.83 vs 2.54),and space pitch increased (μm:0.427 vs 0.222),but density woven degree of trabecular bone increased (number/mm:4.61 vs 1.54),bone mineral density decreased(mg/cm3:977 vs 1 108),osteopenia,osteoporosis,bone mineral decreased,and an increase in the number of trabeculae crossing number.② Tibia bone tissue:compared between bone deformation children and bone non-deformation children in the diseased areas,relative volume of tibia trabecular bone increased(0.435% vs 0.206%),relative volume of trabecular bone (mm2/mm3:12.3vs 12.4),and thickness (μm:188 vs 161) not changed obviously,trabecular number increased (number/mm:2.43 vs 1.28),space pitch reduced(μm:0.238 vs 0.621),density woven degree of trabecular bone decreased(number/mm:2.40 vs 3.48),bone mineral density increased(mg/cm3:1 047 vs 952),in general presented trabecular thickening,increased number and increased bone mineral.Compared between middle-aged patients with fluorosis in the diseased areas and children in non-fluorosis endemic areas,relative volume of trabecular bone (0.346% vs 0.206%) and area (mm2/mm3:13.8 vs 12.4) increased,thickness of the trabecular bone reduced (μm:144 vs 161),trabecular number increased (number/mm:1.98 vs 1.28),space pitch decreased (μm:0.318 vs 0.621),and density woven degree of trabecular bone decreased (number/mm:2.60 vs 3.48).Conclusions The results of trabecular bone microstructure and bone mineral density have showed that the combined effects of aluminum and fluorine on human bone tissue at different developmental stages are different.High aluminum and fluorine load before the sexual development of children for trabecular bone thick dense,shows an increasing in bone mass and bone mineral deposition of bone sclerosis image.Bone deformation youth shows osteopenia osteoporosis and bone mineral deposition is reduced.Bone volume is slightly increased,the number of trabecular bone is increasing,trabecular structure is fine in middle-aged patients with skeletal fluorosis.