Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

With the increasing incidence of hepatobiliary diseases, it is particularly important to understand the role of molecular, cellular and physiological factors in the clinical diagnosis and treatment with traditional Chinese medicine(TCM) in the development of liver disease. Appropriate animal models can help us identify the possible mechanisms of relevant diseases. Danio rerio(zebrafish) model was traditionally used to study embryonic development, and has been gradually used in screening and evaluation of liver diseases and relevant drug in recent years. Zebrafish embryos develop rapidly and the digestive organs of 5-day-old juvenile fish are all mature. At this stage, they may develop hepatobiliary diseases induced by developmental defects or compounds. Zebrafish liver is similar to human liver in cell composition, function, signal transduction, response to injury and cell process mediating liver disease. Furthermore, due to the high conservation of genes and proteins between humans and zebrafish, zebrafish becomes an alternative system for studying basic mechanisms of liver disease. Therefore, genetic screening could be performed to identify new genes involving specific disease processes, and chemical screening could be made for drugs in specific processes. This paper briefly introduced the experimental properties of zebrafish as model system, emphasized the study progress of zebrafish models for pathological mechanism of liver diseases, especially fatty liver, and drug screening and evaluation, so as to provide ideas and techniques for the future liver toxicity assessment of TCM.
Animals ; Drug Evaluation, Preclinical ; Humans ; Liver ; Liver Diseases/genetics* ; Medicine, Chinese Traditional ; Zebrafish/genetics*

Background: The accessory tendon of the extensor hallucis longus (ATEHL) muscle is a common abnormal structure, and its clinical significance remains debatable. In this study, we provide the incidence of the ATEHL and characterize its morphological types in Asian cadavers and investigate its clinical applications. Methods: The tendons from 50 adult cadaveric feet, fixed in 10% formalin, were analyzed. We measured the length and width of both the ATEHL and the extensor hallucis brevis (EHB). Results: All dissected specimens had an ATEHL. The first metatarsophalangeal joint was surrounded by an accessory tendon that inserted onto the joint capsule and the dorsal base of the proximal phalanx. We classified the ATEHL into 3 types based on their directions. Differences in ATEHL type based on sex were not statistically significant. Conclusions We found an ATEHL in all cadaveric specimens in this study. We surmise that the ATEHL acts as an antagonist with the EHB when the toe is extending, which might help prevent the occurrence of hallux valgus deformity.

Background: The accessory tendon of the extensor hallucis longus (ATEHL) muscle is a common abnormal structure, and its clinical significance remains debatable. In this study, we provide the incidence of the ATEHL and characterize its morphological types in Asian cadavers and investigate its clinical applications. Methods: The tendons from 50 adult cadaveric feet, fixed in 10% formalin, were analyzed. We measured the length and width of both the ATEHL and the extensor hallucis brevis (EHB). Results: All dissected specimens had an ATEHL. The first metatarsophalangeal joint was surrounded by an accessory tendon that inserted onto the joint capsule and the dorsal base of the proximal phalanx. We classified the ATEHL into 3 types based on their directions. Differences in ATEHL type based on sex were not statistically significant. Conclusions We found an ATEHL in all cadaveric specimens in this study. We surmise that the ATEHL acts as an antagonist with the EHB when the toe is extending, which might help prevent the occurrence of hallux valgus deformity.

Aim To investigate the effect of broneol on acute lung injury(ALI) induced by lipopolysaccharide (LPS). Methods Male C57 mice were randomly di-vided into saline group, model group, broneol group and dexamethasone group, then the ALI mouse model was induced by instilling intratracheally with LPS. The levels of tumor necrosis factor-α(TNF-α),interleukin-1β(IL-1β),interleukin-6(IL-6) and keratinocyte-de-rived cytokine (KC) were measured at 6h, 12h and 24h after instillation of LPS, and the pathological changes of lung were observed. Mice alveolar macro-phages (MHS) and epithelial cells (MLE-12) were stimulated by LPS. After the stimulation of 1h, 3h, 6h,9h, 12h, 24h, the levels of TNF-α and IL-6 in MHS cells and the contents of KC and macrophage in-flammatory protein-2 (MIP-2) in MLE-12 cells were measured. Results Broneol could inhibit the secre-tion of TNF-α,KC and IL-1β;the early effect of bro-neol on IL-6 was not obvious,but the later effect after the treatment of 24 hours was obvious. After LPS instil-lation 6h and 12h,Broneol could significantly improve lung tissue pathological changes. Broneol had no effect on TNF-α secretion of MHS cells, but it obviously af-fected IL-6 secretion in the later stage. In addition, broneol significantly inhibited KC and MIP2 secretion in MLE-12 cells at the later stage of LPS stimulation. Conclusions Broneol can protect LPS-induced acute lung injury. The mechanism may be related to the inhi-bition of the release of inflammatory factors,the activa-tion of inflammatory cells and the aggregation of neutro-phils.

BACKGROUNDLeakage of the intestinal mucosal barrier may cause translocation of bacteria, then leading to multiorgan failure. This study hypothesized that rhubarb monomers might protect the gut mucosal barrier in sepsis through junction proteins.

METHODSHealthy male Sprague-Dawley rats (weighing 230-250 g) under anesthesia and sedation were subjected to cecal ligation and perforation (CLP). After surgical preparation, rats were randomly assigned to eight groups (n = 6 or 8 each group): sham group (Group A: normal saline gavage); sepsis group (Group B: normal saline gavage); Group C (intraperitoneally, dexamethasone 0.5 mg/kg) immediately after CLP surgery; and rhubarb monomer (100 mg/kg in normal saline)-treated groups (Group D: rhein; Group E: emodin; Group F: 3,8-dihydroxy-1-methyl-anthraquinone-2-carboxylic acid; Group G: 1-O-caffeoyl-2-(4-hydroxy-O-cinnamoyl)-D-glucose; and Group H: daucosterol linoleate). Animals were sacrificed after 24 h. Intestinal histology, lactulose, mannitol concentrations were measured, and zonula occludens (ZO)-1, occludin and claudin-5 transcription (polymerase chain reaction), translation (by Western blot analysis), and expression (by immunohistochemistry) were also measured.

RESULTSIntestinal histology revealed injury to intestinal mucosal villi induced by sepsis in Group B, compared with Group A. Compared with Group A (0.17 ± 0.41), the pathological scores in Groups B (2.83 ± 0.41, P < 0.001), C (1.83 ± 0.41, P < 0.001), D (2.00 ± 0.63, P < 0.001), E (1.83 ± 0.41, P < 0.001), F (1.83 ± 0.75, P < 0.001), G (2.17 ± 0.41, P < 0.001),and H (1.83 ± 0.41, P < 0.001) were significantly increased. Lactulose/mannitol (L/M) ratio in Group B (0.046 ± 0.003) was significantly higher than in Group A (0.013 ± 0.001, P< 0.001) while L/M ratios in Groups C (0.028 ± 0.002, P< 0.001), D (0.029 ± 0.003, P< 0.001), E (0.026 ± 0.003, P< 0.001), F (0.027 ± 0.003, P< 0.001), G (0.030 ± 0.005, P< 0.001), and H (0.026 ± 0.002, P< 0.001) were significantly lower than that in Group B. ZO-1, occludin and claudin-5 transcription, translation, and expression in Group B were significantly lower than that in Group A (P < 0.001), but they were significantly higher in Groups C, D, E, F, G, and H than those in Group B (P < 0.05).

CONCLUSIONRhubarb monomer treatment ameliorated mucosal damage in sepsis via enhanced transcription, translation, and expression of junction proteins.

Animals ; Claudin-5 ; metabolism ; Intestinal Mucosa ; drug effects ; metabolism ; Lactulose ; metabolism ; Male ; Mannitol ; metabolism ; Occludin ; metabolism ; Plant Extracts ; chemistry ; therapeutic use ; Rats ; Rats, Sprague-Dawley ; Rheum ; chemistry ; Sepsis ; drug therapy ; metabolism ; Zonula Occludens-1 Protein ; metabolism

PURPOSE: The characteristics of oxidized titanium (Ti) surfaces varied according to treatment conditions such as duration time and temperature. Thermal oxidation can change Ti surface characteristics, which affect many cellular responses such as cell adhesion, proliferation, and differentiation. Thus, this study was conducted to evaluate the surface characteristics and cell response of thermally treated Ti surfaces. METHODS: The samples were divided into 4 groups. Control: machined smooth titanium (Ti-S) was untreated. Group I: Ti-S was treated in a furnace at 300degrees C for 30 minutes. Group II: Ti-S was treated at 500degrees C for 30 minutes. Group III: Ti-S was treated at 750degrees C for 30 minutes. A scanning electron microscope, atomic force microscope, and X-ray diffraction were used to assess surface characteristics and chemical composition. The water contact angle and surface energy were measured to assess physical properties. RESULTS: The titanium dioxide (TiO2) thickness increased as the treatment temperature increased. Additional peaks belonging to rutile TiO2 were only found in group III. The contact angle in group III was significantly lower than any of the other groups. The surface energy significantly increased as the treatment temperature increased, especially in group III. In the 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay, after 24 hours of incubation, the assessment of cell viability showed that the optical density of the control had a higher tendency than any other group, but there was no significant difference. However, the alkaline phosphatase activity increased as the temperature increased, especially in group III. CONCLUSIONS: Consequently, the surface characteristics and biocompatibility increased as the temperature increased. This indicates that surface modification by thermal treatment could be another useful method for medical and dental implants.
Alkaline Phosphatase ; Cell Adhesion ; Cell Survival ; Dental Implants ; Electrons ; Phase Transition ; Tetrazolium Salts ; Thiazoles ; Titanium ; Transition Temperature ; Water ; Wettability ; X-Ray Diffraction

No abstract available.
Animals ; Enzyme-Linked Immunosorbent Assay ; Fibroblasts* ; Mice* ; p38 Mitogen-Activated Protein Kinases* ; Periodontal Ligament* ; Polymerase Chain Reaction

No abstract available.
Actinobacillus* ; Aggregatibacter actinomycetemcomitans* ; Animals ; Osteoclasts ; Rats*

STATEMENT OF PROBLEM: After placing the implant on the jaw, firm osseointegration between the implant interface and the bone should be achieved so that it can perform the same function as the normal teeth. That is, stability of the implant is required in order to form firm osseointegration. PURPOSE: This study was performed to evaluate the effect of implant preparation methods on primary implant stability in various bone qualities. MATERIAL AND METHODS: The recipient sites were prepared by various methods on 4 types of wooden plates (Osstem Co., Korea) which have similar mechanical properties with 4 types of human bone quality. The groups were divided according to implant preparation methods: In the control group the recipient sites were prepared from 1.8 mm guide drill, 2.0 mm initial drill, 2.7 mm pilot drill, 2.7 mm twist drill, 3.0 mm twist drill, 3.3 mm pilot drill, 3.3 mm twist drill, countersink drill, and tapping drill sequentially and 6 RBM surfaced GSII Osstem implants (Osstem Co., Korea) were installed in each type of wooden plates; In group 1, the recipient sites were prepared from 1.8 mm guide drill to 3.0 twist drill sequentially without countersink drill nor tapping drill and implants were placed; In group 2, the recipient sites were prepared from 1.8 mm guide drill to 3.0 mm twist drill, and countersink drill sequentially without tapping drill and implants were placed; In group 3, the recipient sites were prepared from 1.8 mm guide drill to 3.0 mm twist drill, countersink drill, and tapping drill sequentially and implants were placed; In group 4, the recipient sites were prepared from 1.8 mm guide drill to 3.3 mm twist drill sequentially without countersink drill nor tapping drill and implants were placed; In group 5, the recipient sites were prepared from 1.8 mm guide drill to 3.3 mm twist drill and countersink drill sequentially without tapping drill and implants were placed; In group 6, the recipient sites were prepared with 2.0 mm twist drill and 3.0 mm osteotome and implants were placed. The insertion torque was measured by INTRA surg(R)300 (KaVo., Germany). After installation of implants, the primary implant stability was measured by using Osstell(TM), Osstell(TM) mentor, and Periotest(R), and insertion torque test. The statistical analysis of the results was analyzed using SPSS ver. 12.0. Student t-tests and one-way analysis of variance (ANOVA) were used. RESULTS: The results obtained were as follows; 1. In type I and II bone quality plates, although the mean value of primary implant stability was somewhat different according to test methods, the primary implant stability of group 1 was significantly higher than those of other groups (p<0.05). 2. In type III bone quality plate, the primary implant stability of group 1 was significantly higher than those of other groups in Osstell(TM) test, the primary stability of group 1 and group 6 were significantly higher than those of other groups in Osstell(TM) mentor and Periotest(R), and the stability of group 6 was significantly higher than those of other groups in insertion torque test (p<0.05). 3. In type IV bone quality plate, the primary implant stability of group 6 was significantly higher than those of other groups (p<0.05). 4. As the quality of bone was softer, the primary implant stability tended to be lower in values. This tendency was not significantly different in Osstell(TM) and Osstell(TM) mentor tests, but it was significantly different in insertion torque test (p<0.05). 5. In type IV bone quality plate, the mean values of primary implant stability which were calculated by Osstell(TM) was 14.8+/-8.6 higher than the values calculated by Osstell(TM) mentor. CONCLUSION: These results suggest that the recipient implant preparation by using minimal drilling and osteotome may be useful in obtaining the primary implant stability and the insertion torque test seems be the most simple and predictable method.
Humans ; Jaw ; Mentors ; Osseointegration ; Tooth ; Torque