Introduction: Ovarian cancer is considered the most lethal gynecologic malignancy because it is difficult to diagnose in its early stages. Ovarian malignancy prediction models may be useful in discriminating between benign and malignant masses, allowing for accurate and timely referral as well as proper therapeutic care Objective: To evaluate the diagnostic performance of the four ovarian prediction models: Risk of Malignancy Index‑4 (RMI‑4), Risk of Ovarian Malignancy Algorithm (ROMA), Copenhagen Index (CPH‑I), and International Ovarian Tumor Analysis (IOTA)‑Assessment of Different NEoplasias in the AdneXa (ADNEX) in identifying malignant and benign ovarian masses Materials and Methods: This was a retrospective, cross‑sectional, analytical diagnostic study in a tertiary hospital between January 2017 and December 2020. Receiver operating characteristic (ROC) curves, area under the curves (AUCs), sensitivities, specificities, positive and negative predictive values, and positive and negative likelihood ratios were used to assess the diagnostic performance of the prediction models. Results: We analyzed a total of 248 patients. One hundred and sixty‑one (65%) had benign tumors, 28 (11%) had borderline, and 59 (24%) had malignant tumors. The AUCs of all models were all above 90%, but when compared to the other models, CPH‑I had the best estimate. RMI‑4 had the highest sensitivity (98.3%) in diagnosing malignancy. For appropriately diagnosing benign disease, the IOTA‑ADNEX model exhibited the highest specificity (92.1%). Overall, RMI‑4 had the lowest diagnostic accuracy (74.6%), whereas IOTA‑ADNEX had the greatest (93.2%). Conclusion The four malignancy prediction models in this study were all useful tools in discriminating between benign and malignant ovarian tumors. IOTA‑ADNEX, CPH‑I, and ROMA all demonstrated overlapping diagnostic performances indicating that they are equal in that regard. In terms of sensitivity in predicting malignancy, RMI‑4 was the most sensitive. CPH‑I is the predictor with the best overall estimate. Lastly, IOTA‑ADNEX was the most specific, and displayed highest diagnostic accuracy among the four
Ovarian Neoplasms ; Roma ; Humans ; Female

On the basis of literatures and standards relating to Tibetan medicine, the varieties, origin, standards and efficacy of Saxifragaceae plant used in Tibetan medicine were summarized. According to the findings, 75 species(including varieties) in 8 genera of Saxifragaceae plants, involving 21 varieties, are used in Tibetan medicine. Among them, 9 commonly used varieties, namely Songdi, Sedi, Yajima, Aoledansaierbao, Jiansidawu, Saiguo, Katuer, Sangdi, Maoqinghong, are recorded in Chinese Pharmacopoeia, Ministry Standards for Tibetan Medicine, Tibetan Medicine Standards and other local standards, accounting for 42.9% of the total number of varieties. Tibetan names, Tibetan translation of Chinese names, as well as original plant of Tibetan medicine varieties are quite different in relevant Tibetan medicine standards and literatures, which resulted in common phenomena of synonym and homonym. The standards of most varieties only involve characters, and microscopic, physical and chemical identification, with low quality standards. Based on the results of the analysis, this paper suggests strengthening surveys on herbal textual research, resources and current utilization of Saxifragaceae plants used in Tibetan medicine, summarizing the varieties, establishing improved quality standards, and perfor-ming a comparative study on therapeutic material basis and biological activity of different original plants, in order to promote rational use of these medicinal plant resources, and ensuring the accuracy, safety, and effectiveness of clinical medication.
Asian Continental Ancestry Group ; Drugs, Chinese Herbal ; Humans ; Medicine, Tibetan Traditional ; Plants, Medicinal ; Reference Standards ; Saxifragaceae

Tooth preparation is the primary and core operation technique for prosthodontics. Microscopic tooth preparation can improve the accuracy and efficiency of the operation. Experts from Society of Prosthodontics, Chinese Stomatological Association formulated the standard operating procedure for microscopic tooth preparation, so as to standardize its design points and operating procedures, highlight the difference between this novel technique and the traditional naked eye tooth preparation and promote the application of microscopic tooth preparation.
Asian Continental Ancestry Group ; Humans ; Oral Medicine ; Prosthodontics ; Reference Standards ; Tooth Preparation

OBJECTIVE: To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS). METHODS: Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster. RESULTS: The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up. CONCLUSION The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
Asian Continental Ancestry Group/genetics* ; China ; Humans ; Hyalinosis, Systemic/genetics* ; Male ; Mutation ; Pedigree ; Receptors, Peptide/genetics* ; Retrospective Studies

OBJECTIVE: To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat (STR) loci in Hainan Li population. METHODS: DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were electrophoresed on an ABI3130 Genetic Analyzer following the manufacturer's instructions. Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit. RESULTS: A total of 173 alleles and 489 genotypes were observed for the 21 STR loci, respectively. The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274, respectively. The heterozygosity varied from 0.639 to 0.833. Discrimination power (DP) was 0.803-0.948, power of exclusion for trio-paternity was 0.416-0.584, power of exclusion for duo-paternity was 0.140-0.238, the polymorphism information content(PIC) was 0.57-0.81, respectively. The total discrimination power (TDP), cumulative probability of exclusion for trio-paternity testing(CPE-trio) and cumulative probability of exclusion for duo-paternity testing (CPE-duo) were 0.999 999 999 999 99, 0.999 999 883 211 752, and 0.987 266, respectively. CONCLUSION The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.
Asian Continental Ancestry Group/genetics* ; China ; DNA ; Gene Frequency ; Genetics, Population ; Humans ; Microsatellite Repeats/genetics* ; Polymorphism, Genetic

OBJECTIVE: To study the distribution of KIR3DL2 alleles among ethnic Han Chinese from Zhejiang. METHODS: Genomic DNA was extracted by using a magnetic bead method. The full sequence of the KIR3DL2 gene was amplified with four pairs by PCR primers. The coding regions of 208 unrelated ethnic Han Chinese blood donors were analyzed using a BigDye Terminator v3.1 Sequencing Kit. The genotypes were assigned based on the nucleotide polymorphism of the KIR3DL2 gene. RESULTS: Among the 208 samples, 133 were KIR3DL2 heterozygotes and 75 were homozygotes. Forty six KIR3DL2 genotypes were detected. Respectively, 70, 33 and 23 individuals were found to have a KIR3DL2*00201/KIR3DL2*00201, KIR3DL2*00201/KIR3DL2*00701, and KIR3DL2*00201/KIR3DL2*01001 genotype. Twenty-two KIR3DL2 alleles were discovered, and the frequencies of KIR3DL2*00201, KIR3DL2*00701 and KIR3DL2*01001 were 57.45%, 13.46% and 9.13%, respectively. CONCLUSION The distribution of KIR3DL2 alleles among ethnic Han Chinese in Zhejiang has been determined and fits the criteria for genetic polymorphism.
Alleles ; China ; Ethnic Groups ; Gene Frequency ; Humans ; Polymorphism, Genetic ; Receptors, KIR3DL2

OBJECTIVE: To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province. METHODS: Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP). RESULTS: The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy CONCLUSION The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.
Blood Group Antigens/genetics* ; Ethnic Groups ; Gene Frequency ; Genotype ; Humans ; Kidd Blood-Group System ; Polymorphism, Genetic

For medical devices, there might have clinical differences in medical device efficacy and safety among different racial and ethnic subgroups. The acceptability of various data generated during the design and development stage of medical devices between different regions and national regulatory agencies faces huge challenges. This study discusses the considerations of racial and ethnic factors in the design and development of medical devices, with a view to improve the quality and availability of safety and effectiveness data under one framework.
Ethnic Groups ; Humans ; United States

OBJECTIVES: Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations. METHODS: A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population. RESULTS: The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium ( CONCLUSIONS These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.
Asian Continental Ancestry Group/genetics* ; China ; Ethnic Groups/genetics* ; Gene Frequency ; Genetic Loci ; Genetics, Population ; Humans ; Microsatellite Repeats/genetics* ; Polymorphism, Genetic

OBJECTIVE: To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS). METHODS: We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS. RESULTS: We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10 CONCLUSIONS Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
Amyotrophic Lateral Sclerosis/genetics* ; Asian Continental Ancestry Group ; Heat-Shock Proteins ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Molecular Chaperones ; Phenotype