OBJECTIVE: To establish a scientific foundation for cosmetic supervision and administration based on the analysis of the sanitary quality of cosmetics in Hunan Province during 2010. METHODS: According to Cosmetic Sanitary Standards (set by the Ministry of Health, People's Republic of China), 150 random samples of cosmetics in Hunan were assayed both for microbial items (including total plate count, fungus and yeast, fecal coliform, staphylococcus aureus, pseudomonas aeruginosa) and chemical items (including 17 kinds of prohibited substances and 14 kinds of restricted substances). RESULTS: The total rate of cosmetics failing to meet the standards was 22.0% of the 150 samples; specific rates for failing perfumes, skin care products (eye cream) and deodorant products were, relatively, 70.6%, 60.00%, and 44.4%. Four kinds of prohibited substances, including diethyl phthalate, acrylamide, asbestos and neodymium, as well as 2 kinds of restricted substances, including triclosan and formaldehyde, were found to exceed standards. None of microbial items exceeded standard levels. CONCLUSION The sanitary quality control of cosmetics is lax. Administrative departments should not only reinforce their post-production supervision with respect to cosmetics, but also consolidate their control over the process of cosmetic production in order to solve the problem of toxic residues or illegal and intentional adulterations.
China ; Cosmetics ; analysis ; chemistry ; standards ; Formaldehyde ; isolation & purification ; Humans ; Phthalic Acids ; isolation & purification ; Quality Control ; Staphylococcus aureus ; isolation & purification

OBJECTIVE: To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis. METHODS: Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital) from April 2017 to April 2022 were selected as the study subjects. Potential variants of the MMACHC gene were detected by direct sequencing of the PCR products. RESULTS: The median age of the 65 children was 3 months (14 days to 17 years old). These included 28 cases (43.08%) from neonatal screening, 11 cases (16.92%) with a history of jaundice, and 9 cases (13.85%) with various degrees of anemia. The main clinical symptoms included development delay, slow growth, epilepsy, hydrocephalus, lethargy, feeding difficulty, regression or decline in motor ability, recurrent respiratory infections, anemia, jaundice, respiratory and heart failures, hydrocephalus, limb weakness, and hypertension. Blood and urine tandem mass spectrometry screening has revealed increase of methylmalonic acid, propionyl carnitine, propionyl carnitine/acetylcarnitine ratio, and propionyl carnitine/free carnitine ratio to various extents, and blood homocysteine was increased in all patients. The detection rate of genetic variants was 98.46% (128/130), and in total 22 types of MMACHC gene variants were detected. The most common ones have included c.609G>A (W203X) (58/128), c.658-660del (K220del) (19/128), and c.80A>G (Q27A) (16/128). Two novel variants have been identified, namely c.565C>T (p.R189C) and c.624_ 625delTG (p.A208Afs), which were respectively predicted as likely pathogenic (PM2_Supporting+PM3+PP2+PP3) and pathogenic (PVS1+PM2_Supporting+PM3+PP2) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Exon 4 had the highest frequency for the detection. CONCLUSION Identification of MMACHC gene variants has confirmed the diagnosis in the children, among which the c.609G>A variant has the highest frequency. Discovery of the new variants has enriched the mutational spectrum of the MMACHC gene.
Humans ; Amino Acid Metabolism, Inborn Errors/genetics* ; Hydrocephalus ; Oxidoreductases

Objective: To analyze the detection rate of sleep problems such as sleep delay and deficiency in preschool children in the middle and lower reaches of the Yangtze River in China,and to provide the reference for the standard of sleeping mode among preschool students. Methods: From October to November 2017, a questionnaire survey was conducted among 27 200 preschool children in 11 cities in Hubei, Anhui and Jiangsu provinces in the middle and lower reaches of the Yangtze River in China. Epidemiology of sleep delays, deficiencies and sleep patterns in preschool children was described. Results: The detection rate of sleep problems in preschool children in the middle and lower reaches of the Yangtze River was 15.3%. Taking the length of sleep and bedtime as the main analysis points, it was found that the average sleeping time point of each age group was 21:31, and the detection rate of bedtime delay was 86.5%. The average length of sleep was (10.60±1.12) hours. The detection rate of sleep deprivation in preschool children was 15.7%. Sleep delay was positively correlated with girls, age increase and parents’ higher educational level (P<0.05), and negatively correlated with living in the city, non-only child and bedroom without TV (P<0.01) .The detection rate of sleep deprivation was positively correlated with children of high age group (4yearold group：OR=1.32，95%CI=1.19-1.46；5-year-old group：OR=2.10，95%CI=1.91-2.32；6-year-old group：OR=2.47，95%CI=2.20-2.77)(P<0.01), and negatively correlated with no TV in bedroom (OR=0.91，95%CI=0.84-0.98) and no light in sleep (OR=0.87，95%CI=0.78-0.97)(P<0.05). Conclusion Preschool children sleep delay and sleep deprivation and other sleep problems are more prominent, affected by family environment and other factors.

OBJECTIVE: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS). METHODS: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed. RESULTS: The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.
Female ; Humans ; Male ; Pregnancy ; Chloride Channels/genetics* ; Genetic Counseling ; Genetic Testing ; Genomics ; High-Throughput Nucleotide Sequencing ; Mutation ; Child, Preschool

OBJECTIVE: To analyze the clinical characteristics and pathogenic gene in a Chinese pedigree affected with mitochondrial DNA depletion syndrome 8A (MTDPS8A). METHODS: Whole exome sequencing was carried out for the patient. Sanger sequencing was used to verify the results, and PolyPhen-2 and PROVEAN software were used to predict the impact of amino acid changes on the function of the protein. RESULTS: The patient, a two-month-old female, was admitted to the hospital for poor milk intake and poor mental response. Her clinical manifestations included feeding difficulty, shortness of breath and low muscle tone. Auxiliary laboratory test indicated that the infant was underdeveloped with abnormal liver, kidney, and heart functions accompanied by hyperlacticacidemia. She responded poorly to treatment and eventually died. Sequencing revealed that the child has carried compound heterozygous missense variants of the RRM2B gene, namely c.16delA (p.R6Gfs*22) and c.175G>C (p.A59P), which were respectively inherited from her father and mother, and both were newly discovered pathologic variants. CONCLUSION The c.16delA and c.175G>C compound heterozygous variants of the RRM2B gene probably underlay the pathogenesis of MTDPS8A. Above finding has strengthened the understanding of the clinical feature and genetic etiology of this disease and expanded the mutation spectrum of the RRM2B gene.
Cell Cycle Proteins ; Child ; China ; DNA, Mitochondrial/genetics* ; Female ; Genetic Testing ; Humans ; Infant ; Mutation ; Pedigree ; Ribonucleotide Reductases ; Whole Exome Sequencing

OBJECTIVE: To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome. METHODS: Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene. RESULTS: Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines. CONCLUSION Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.
Craniosynostoses ; Female ; Genetic Testing ; Humans ; Intellectual Disability/genetics* ; Male ; Methyl-CpG-Binding Protein 2/genetics* ; Mutation ; Phenotype ; Rett Syndrome/genetics*

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. RESULTS: Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
Humans ; Infant ; Male ; Family ; Genetic Testing ; Genomics ; Mutation ; Tuberous Sclerosis/genetics* ; Child, Preschool ; East Asian People

Objective:To analyze distributions of dose range, occupational category, and causes of abnormal dose values from individual dose monitoring of radiation workers and to provide recommendations for improving the quality of individual monitoring data and occupational health management in medical institutions.Methods:The data of individual dose monitoring result exceeding 1.25 mSv in a single monitoring cycle, collected by Occupational Health System for Radiology Facilities’ on National Radiological Health Information Platform, was analyzed.Results:A total of 1 113 abnormal dose values were detected in 31 provinces in 2020, with an abnormal rate of 2.48‰, of which workers of diagnostic radiology and interventional radiology accounted for 68.01% and 18.78%, respectively. The dose distribution of abnormal dose values was mainly between 1.25 and 5 mSv. The abnormal dose values were mainly caused by improperly wearing or using personal dosimeters, accounting for 63.88%. Workers for whom the dose values was abnormal due to increased workload accounted for 12.32%, with an average annual individual dose of 5.14 mSv. There was no statistically significant difference in annual individual dose among radiation workers between different occupational groups( P>0.05). Conclusions:Education and training on radiation protection for radiation workers should be strengthened, and a specific and feasible system for radiation protection management, as well as a reward and punishment system, should be established in order to reduce the occurance of the improper wearing of personal dosimeters. Great attention should be paid to occupational exposure of workers in diagnostic radiology and interventional radiology, and a work shift system should be conducted to reduce individual dose levels. It is recommended that standard verification procedures for abnormal dose values from individual dose monitoring should be developed to improve the quality of individual monitoring data.

Objective:To analyze the clinical characteristics and genetic variation of 2 children with developmental and epileptic encephalopathy 8 (DEE8).Methods:Whole-exome sequencing (WES) was performed to determine the potential variants in the probands. Candidate variants identified by WES were validated by Sanger sequencing and quantitative real-time polymerase chain reaction. X chromosome inactivation (XCI) detection was performed in the proband 1′s mother and proband 2 to detect the allelic expression difference of ARHGEF9. Results:Both of the cases showed global developmental delay. Proband 1 presented with delayed motor and speech development, intellectual disability, and seizures. Electroencephalography of proband 1 showed slow background activity, with spikes, spike and waves in bilateral frontal and midline regions during sleep. While proband 2 showed delay in acquisition of language, motor skills, and cognition, but no seizures. It was identified that proband 1 carried a novel maternally derived heterozygous splicing variant (c.925-2A>T) in ARHGEF9 by WES, which was verified in Sanger sequencing. The XCI in proband 1′s mother was observed, and the expression ratio of mutant ARHGEF9 and wild-type was 0∶100%. A novel exon 3-10 heterozygous deletion of ARHGEF9 was identified in proband 2, and this variant was not found in his unaffected parents. Conclusions:DEE8 disorders are relatively rare. Most of the patients have varying degrees of neurodevelopmental phenotype, but epilepsy is not a specific clinical manifestation. ARHGEF9 gene deletion and splicing variation may be the genetic cause of the 2 probands, and above findings have enriched the spectrum of variation and phenotype of DEE8.