Objective To investigate the value of MRI of the sternal end of clavicle in bone age assessment in Chinese population,especially its applicability in the determination of criminal responsible age.Methods A total of 431 patients aged from 10.00 to 29.99 years with neck or chest MRI were retrospectively collected.According to the Schmeling grading method,the epiphyseal development of the clavicle MRI was divided into five grades.The consistency of methods was evaluated.The correlation and general descriptive analysis between MRI grades and age was analyzed.The sex difference was analyzed.Curve fitting was used to establish a nonlinear model between age and grades.Results The grades of clavicle MRI showed a significant age-related trend(Figure 2),and the correlation was 0.861(0.887 in males and 0.840 in females).Except for grade 1,there was no significant difference between males and females in other grades.The minimum age of male grade 3 was greater than 14 years old,and the minimum age of female grade 3 was greater than 16 years old.The minimum age in grade 4 and grade 5 was over 18 years old in both sexes.The best curve fitting model was cubic model for both sexes(R2=0.805 for men and 0.722 for women).Conclusion Clavicle MRI can be used for the assessment of bone age in Chinese population.Complete epiphyseal plate closure can be used as a reliable indicator for the determination of age at 18 years old,and it is expected to achieve radiation-free forensic bone age assessment.

Objective To investigate the value of MRI of the sternal end of clavicle in bone age assessment in Chinese population,especially its applicability in the determination of criminal responsible age.Methods A total of 431 patients aged from 10.00 to 29.99 years with neck or chest MRI were retrospectively collected.According to the Schmeling grading method,the epiphyseal development of the clavicle MRI was divided into five grades.The consistency of methods was evaluated.The correlation and general descriptive analysis between MRI grades and age was analyzed.The sex difference was analyzed.Curve fitting was used to establish a nonlinear model between age and grades.Results The grades of clavicle MRI showed a significant age-related trend(Figure 2),and the correlation was 0.861(0.887 in males and 0.840 in females).Except for grade 1,there was no significant difference between males and females in other grades.The minimum age of male grade 3 was greater than 14 years old,and the minimum age of female grade 3 was greater than 16 years old.The minimum age in grade 4 and grade 5 was over 18 years old in both sexes.The best curve fitting model was cubic model for both sexes(R2=0.805 for men and 0.722 for women).Conclusion Clavicle MRI can be used for the assessment of bone age in Chinese population.Complete epiphyseal plate closure can be used as a reliable indicator for the determination of age at 18 years old,and it is expected to achieve radiation-free forensic bone age assessment.

AIM: To investigate the effect of a new type of rhinodacryocystostomy combined with fluticasone propionate on patients with chronic dacryocystitis.METHODS: A total of 100 patients(100 eyes)with chronic dacryocystitis who admitted to our hospital between January 2021 and December 2022 were enrolled in the prospective study. The patients in the study were divided into a control group(n=50)and an observation group(n=50)based on their admission order and number. Patients in the control group were treated with novel rhinodacryocystostomy, while patients in the observation group were treated with a new type of rhinodacryocystostomy combined with fluticasone propionate. The preoperative and postoperative best corrected visual acuity(BCVA), quality of life score, and recurrence of chronic dacryocystitis were compared between the two groups of patients.RESULTS: All patients completed the postoperative 6 mo follow-up, and the total effective rate of patients in the observation group was better than that of patients in the control group(98% vs 84%, P=0.001). There was no significant difference in preoperative and postoperative BCVA between the two groups(P>0.05). Preoperatively, there was no significant difference in the quality of life scores between the two groups of patients(P>0.05); At 6 mo postoperatively, the quality of life scores of patients in the control group, including physical function, psychological function, social function, and material life status, were lower than those in the observation group(all P<0.001). There were 9 recurrences in the control group(18%)and 1 in the observation group(2%), and there was statistical significance in the postoperative recurrence rate between the two groups(χ2=-2.739, P=0.001).CONCLUSION: The new type of rhinodacryocystostomy combined with fluticasone propionate treatment for chronic dacryocystitis patients has a good therapeutic effect, can improve the quality of life of patients, and reduce the probability of disease recurrence.

Objective:To establish high performance liquid chromatography (HPLC) wavelength switching method to simultaneously determine the contents of chlorogenic acid, hydroxysafflor yellow A, ferulic acid, Nicotiflorin, Osthole and columbianadin in Tongluo Zhibi Prescription.Methods:The column was XBridge C18 column (250 mm × 4.6 mm, 5 μm); the mobile phase was acetonitrile (A)-0.1% phosphate water (B); gradient eluted, with flow rate: 1 ml/min, column temperature: 30 °C, detection wavelength 330 nm (0-14 min detection of chlorogenic acid, 15-80 min detection of ferulic acid, Nicotiflorin, Osthole, and columbianadin), 403 nm (14-15 min detection of hydroxysafflower yellow pigment A).Results:Chlorogenic acid, hydroxyrhodopsin A, ferulic acid, kaempferol 3-O-rutinoside, serpentin, and dihydroeurobicarpus angelicus acid ester showed good linearity ( R2 ≥ 0.999 8) within 0.029 7-1.485 0, 0.030 0-1.500 0, 0.009 9-0.495 0, 0.017 5-0.875 0, 0.028 4-1.420 0, 0.013 7-0.685 0 μg, respectively. The precision, stability (24 h), repeatability relative standard deviation ( RSD) were all <2%. The average spiked recoveries were all in the range of 95%-105%, and the RSDs were all in the range of 0.32%-1.67%. In 10 batches of test samples of Tongluo Zhibi Prescription, the content of the above six components, including chlorogenic acid, was determined to be 0.221 60, 0.314 30, 0.085 10, 0.032 95, 0.043 87, 0.026 21 mg/g in the following order. Conclusion:The established HPLC wavelength switching method is fast, simple and accurate, which can be used for simultaneous determination of the content of the above six components in Tongluo Zhibi Prescription, which provides reference for quality monitoring and new dosage form research of Tongluo Zhibi Prescription.

Objective:To analyze the effectiveness and interobserver agreement of the Parer five-tier, the National Institute of Child Health and Human Development (NICHD) three-tier, and the International Federation of Gynecology and Obstetrics (FIGO) three-tier electronic fetal monitoring (EFM) systems in identification of neonatal acidosis during labor.Methods:This retrospective study was conducted on full-term singleton cephalic deliveries with neonatal acidosis (umbilical artery blood gas pH≤7.1) and normal newborns (umbilical artery blood gas pH≥7.2) in the Nanjing Drum Tower Hospital, Nanjing University Medical School from January to December 2020. EFM tracings during the last 30-60 min before delivery were collected. Four obstetricians independently described the features of randomly sorted and coded EFM tracings. Another obstetrician categorized these tracings using the NICHD three-tier, FIGO three-tier, and Parer five-tier evaluation systems based on the features. All researchers were masked to the clinical characteristics and maternal and neonatal outcomes. The sensitivity and specificity for identifying neonatal acidosis, as well as the interobserver agreement, were analyzed for all three systems. Independent sample t-test, Chi-square (or Fisher's exact test) and Mann-Whitney U tests were used for statistical analysis. Inter-group comparisons of sensitivity and specificity between the three evaluation systems were assessed using McNemar's test. The Kappa statistic was used to analyze interobserver agreement. Results:This study included a total of 3 558 cases. After propensity score matching, there were 44 cases of neonatal acidosis and 78 control cases. There were no significant differences in parity, gestational weeks, modes of delivery, placental abruption, or analgesia rates between the two groups. The rates of instrumental vaginal delivery and neonatal intensive care unit (NICU) admission in the acidosis group were significantly higher than those in the control group [15.8% (7/44) vs. 2.6% (2/78), χ2=8.45, P=0.003; 31.8% (14/44) vs. 12.8% (10/78), χ2=8.45, P=0.004], while the umbilical artery blood pH and mean base excess were lower in the acidosis group than in the control group [7.04±0.07 vs. 7.30±0.05, t=4.98; (－12.40±3.32) vs. (－5.64±1.95) mmol/L, t=13.61; both P<0.001]. (2) Using the NICHD three-tier system, 95.5% (42/44) of the acidosis cases and 89.7% (70/78) of the control cases were classified as having category Ⅱ EFM tracings, indicating potential fetal acid-base imbalance; category Ⅲ EFM tracings were only observed in 4.5% (2/44) of the cases in the acidosis group. With the FIGO three-tier system, 81.8% (36/44) of the acidosis cases were categorized as having "pathological" tracings, and with the Parer five-tier system, 86.4% (38/44) of the acidosis cases were correctly classified into the "orange or red" risk zones that indicated acid-base imbalance. Among the control cases, there were 28.2% (22/78) with EFM tracings of "normal patterns" categorized by the FIGO three-tier system, and 41.0% (32/78) classified into the "green or blue" risk zones by the Parer five-tier system, which indicated good fetal conditions. None of the acidosis cases were misdiagnosed as being normal by the Parer five-tier system. (3) Compared with the NICHD three-tier system, both the FIGO three-tier and the Parer five-tier systems showed increased diagnostic sensitivity [4.5% (1.2%- 14.5%) vs. 81.8% (66.8%-89.4%) and 86.4% (71.8%-92.4%)], but decreased specificity [100.0% (95.3%- 100.0%) vs. 87.2% (78.0%-92.9%) and 84.6% (75.0%-91.0%)]. There was no statistically significant difference in the sensitivity or specificity between the FIGO three-tier and Parer five-tier systems for identifying neonatal acidosis ( P=0.727 and 0.791). (4) When reading the tracings of control cases, the total agreement rate for the NICHD three-tier system by different observers was as high as 94.2%, while the total agreement rates for the FIGO three-tier and Parer five-tier systems were 69.7% and 67.7%, respectively. In the interpretation of EFHR tracings for acidosis cases, the interobserver agreement for the Parer five-tier system was excellent [Kappa (95% CI): 0.87 (0.79-0.95)], while both the NICHD three-tier and FIGO three-tier systems showed good agreement [Kappa (95% CI): 0.77 (0.66-0.88) and 0.72 (0.60-0.84)]. Conclusions:The Parer five-tier and the FIGO three-tier systems have higher sensitivity in identifying neonatal acidosis than the NICHD three-tier system, and the Parer five-tier system achieves a higher negative predictive value and a greater agreement in the interpretation of pathological EFM patterns.

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). METHODS: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out. RESULTS: Child 1 and 2 had a social gender of female, whilst their karyotypes were both 46,XY. No pathogenic variant was identified by WES. The results of CNV-seq were 46,XY,+Y (1.4) and 46,XY,-Y (0.75), respectively. The remaining three children have all carried an abnormal chromosome Y. Based on the results of CNV-seq, their karyotypes were respectively verified as 45,X[60]/46,X,del(Y)(q11.221)[40], 45,X,16qh+[76]/46,X,del(Y)(q11.222),16qh+[24], and 45,X[75]/46,XY[25]. CONCLUSION CNV-seq may be used to verify the CNVs on the Y chromosome among children with DSD and identify the abnormal chromosome in those with 45,X/46,XY. Above results have provided a basis for the clinical diagnosis and treatment of such children.
Humans ; Child ; Female ; DNA Copy Number Variations ; Chromosome Aberrations ; Karyotyping ; Exome Sequencing ; Disorders of Sex Development/genetics*

Objective:To investigate the clinical features of neonatal testicular torsion and to evaluate the effect and necessity of early intervention.Methods:A retrospective analysis was performed on 11 neonates admitted to the Second Hospital of Shandong University with neonatal testicular torsion from June 2017 to June 2022. Clinical data of these cases including clinical manifestations, ultrasonography findings, surgical management and outcomes were reviewed and analyzed with descriptive statistical methods.Results:The median age of the 11 patients on admission was 2.6 d (1-5 d). The median time from finding abnormal scrotum to admission was 12 h (1-120 h). Various degrees of scrotal swelling or scleroma were found in the patients. Among them, seven patients presented with acute inflammatory signs of cyano sis or skin redness, and testis-like tissue induration could be touched. Ultrasound scan showed abnormal blood flow in the affected testicle in all cases. Emergency scrotal exploration under general anesthesia was performed successfully in all cases and ten of them underwent orchiectomy of the affected testicle plus contralateral orchiopexy. The rest one who was admitted within 1 h after birth only underwent orchiopexy of the affected testicle as the parents refused contralateral testicular exploration. During the operation, 12 twisted testis were observed, including seven with extravaginal torsion, three with intravaginal torsion and two adhering to the surrounding tissue without normal testicular tissue or distinguishable torsion direction or degree. In this study, ten patients had unilateral testicular torsion, which affected the left side in seven cases and the right side in three cases, and one had bilateral testicular torsion, which was diagnosed as left testicle torsion before surgery. During scrotal exploration, the left testicle of this bilateral case was resected due to necrosis, while the right testicle twisted about 180 degrees with good blood flow and was subjected to orchidopexy after reduction. In one case, the unaffected testicle was unfixed and dysplastic during contralateral exploration, which was also subjected to orchidopexy. In the 12 testis with torsion, one testicle of the patient admitted within 1 h after birth and the right testicle of the bilateral case were preserved with a salvage rate of 2/12. Pathological examination showed necrosis in the ten excised testis, and fibrosis and calcification foci in two of them. None of the patients had any perioperative complications and the scrotal incision healed well in all neonates. The patients were followed up for 6-12 months with regular ultrasound. The two preserved testis and the contralateral testis subjected to orchidopexy were located in the scrotum with good blood supply, and no torsion, atrophy or other abnormalities occurred.Conclusions:Neonatal testicular torsion is rarely seen in clinical practice and has no specific manifestations. It has a high excision rate due to testicular necrosis. Early diagnosis and bilateral scrotal exploration are crucial to the prognosis and the keys to save the affected testis and avoid anorchidism.

Objective:To explore the strategy of preimplantation genetic testing for monogenic disorders (PGT-M) with variants of uncertain significance (VUS).Methods:Monogenic disorder couples who carried VUS and sought fertility counseling between 2018 and 2020 in Reproductive and Genetic Hospital of CITIC-Xiangya were recruited in this study. The pathogenicity of VUS was reanalyzed according to the Standards and Guidelines for the Interpretation of Sequence Variants released by the American College of Medical Genetics and Genomics (ACMG) and the Bayesian Classification. Those VUSs were reclassified as "pathogenic/likely pathogenic variants (P/LP)", "likely pathogenic VUS", "variants of uncertain significance", or "likely benign VUS". PGT-M was applied to families with VUS upgraded as "P/LP" or "likely pathogenic VUS" under the principle of couples fully voluntary and understanding the risks. We also followed up the developmental status of fetuses and the health condition of the born children.Results:1) A total of 25 variants were detected in 16 families with monogenic disorders, including 1 P, 3 LP, and 21 VUS. After reanalysis, 11 VUS and 7 VUS were upgraded as LP (52.4%) and "likely pathogenic VUS" (33.3%), respectively. Two VUS were still reclassified as "variants of uncertain significance"(9.5%), and 1 VUS was reclassified as "likely benign VUS" (4.8%). 2) PGT-M was implemented for 14 families with monogenic disorders, including 9 families with VUS upgraded as LP, 2 families with one LP/P and one "likely pathogenic VUS", and 3 families with only "likely pathogenic VUS". 3) Twelve healthy babies were born after PGT-M. Following up was done according to the onset age of diseases: 8 offsprings did not show the symptoms as probands, and 4 offsprings had not yet reached the age of onset and need continuous follow-up.Conclusion:It is necessary to actively search for new evidence and reanalyze the pathogenicity of VUS according to ACMG guidelines before PGT-M. Under fully informed consent of the patients, PGT-M can be carried out for VUS reclassified as "P/LP" and "likely pathogenic VUS", to reduce the risk of recurrence.

Objective:To explore the strategy of preimplantation genetic testing for monogenic disorders (PGT-M) with variants of uncertain significance (VUS).Methods:Monogenic disorder couples who carried VUS and sought fertility counseling between 2018 and 2020 in Reproductive and Genetic Hospital of CITIC-Xiangya were recruited in this study. The pathogenicity of VUS was reanalyzed according to the Standards and Guidelines for the Interpretation of Sequence Variants released by the American College of Medical Genetics and Genomics (ACMG) and the Bayesian Classification. Those VUSs were reclassified as "pathogenic/likely pathogenic variants (P/LP)", "likely pathogenic VUS", "variants of uncertain significance", or "likely benign VUS". PGT-M was applied to families with VUS upgraded as "P/LP" or "likely pathogenic VUS" under the principle of couples fully voluntary and understanding the risks. We also followed up the developmental status of fetuses and the health condition of the born children.Results:1) A total of 25 variants were detected in 16 families with monogenic disorders, including 1 P, 3 LP, and 21 VUS. After reanalysis, 11 VUS and 7 VUS were upgraded as LP (52.4%) and "likely pathogenic VUS" (33.3%), respectively. Two VUS were still reclassified as "variants of uncertain significance"(9.5%), and 1 VUS was reclassified as "likely benign VUS" (4.8%). 2) PGT-M was implemented for 14 families with monogenic disorders, including 9 families with VUS upgraded as LP, 2 families with one LP/P and one "likely pathogenic VUS", and 3 families with only "likely pathogenic VUS". 3) Twelve healthy babies were born after PGT-M. Following up was done according to the onset age of diseases: 8 offsprings did not show the symptoms as probands, and 4 offsprings had not yet reached the age of onset and need continuous follow-up.Conclusion:It is necessary to actively search for new evidence and reanalyze the pathogenicity of VUS according to ACMG guidelines before PGT-M. Under fully informed consent of the patients, PGT-M can be carried out for VUS reclassified as "P/LP" and "likely pathogenic VUS", to reduce the risk of recurrence.

Objective To evaluate the efficacy of endotracheal tube (ETT) with injecting medicine for continuous airway topical anesthesia in inhibiting responses to an indwelling ETT after operation in the patients undergoing maxillofacial surgery. Methods Sixty patients of both sexes, aged 18-64 yr, weig-hing 45-75 kg, of American Society of Anesthesiologists physical status Ⅰor Ⅱ, scheduled for elective maxillofacial surgery under general anesthesia, were divided to control group ( group C) and ETT with in-jecting medicine for continuous airway topical anesthesia group (group E) by a random number table meth-od, with 30 patents in each group. ETT was indwelled until the patients were admitted to intensive care unit (ICU) after the end of surgery, midazolam 0. 02-0. 03 mg∕kg was intravenously injected, and sufentanil was intravenously infused at a rate of 0. 02-0. 10 μg·kg-1·h-1for sedation. In group E, 2% lidocaine 2 ml was injected through the ETT with injecting medicine every 2 h to perform airway topical anesthesia. The equal volume of normal saline was injected through the ETT with injecting medicine every 2 h to maintain the Ramsay sedation score ≥2 in group C. The occurrence of hypertension, tachycardia and bucking and seda-tive requirements were recorded within 24 h after admission to ICU. The concentrations of norepinephrine and methoxyepinephrine in urine were determined by enzyme-linked immunosorbent assay at 24 h after ad- mission to ICU. Results Compared with group C, the frequency of hypertension, tachycardia and bucking were significantly decreased, the consumption of midazolam and sufentanil was reduced, and the concentra-tions of norepinephrine and methoxyepinephrine in urine were decreased in group E (P＜0. 05). Conclusion ETT with injecting medicine can markedly inhibit responses to an indwelling ETT after operation when used for continuous airway topical anesthesia in the patients undergoing maxillofacial surgery.