Objective To investigate the clinical manifestations,molecular genetics and gonadal pathol-ogy characteristics of patients with disorders of sex development(DSD),and to summarize the clinical experi-ence of identifying rare diseases from common symptoms.Methods The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children's Medical Cen-ter from May 2018 to August 2023 were retrospectively analyzed,summarized and discussed.Results Accord-ing to chromosome karyotype,416 cases of DSD were classified into three types:92 cases(22.1％)of abnormal sex chromosome karyotype,285 cases(68.5％)of 46,XY karyotype and 39 cases(9.4％)of 46,XX karyotype.Among the 92 patients with abnormal sex chromosome karyotype,59 cases were raised as males,18 cases(30.5％)complained of short penis with hypospadias and cryptorchidism.The most common karyotype was 45,X/46,XY(58 cases,63.0％).Among the 285 patients with 46,XY karyotype,238 cases were raised as males,and 63 cases(26.5％)complained of short penis and hypospadias;47 cases were raised as females,and 13 ca-ses(27.7％)complained of inguinal mass.A total of 216 patients with 46,XY karyotype were subjected to whole exome gene detection,and 155 cases(71.8％)were found to have molecular pathogenesis with the clinical phe-notype.Among the 39 patients with 46,XX karyotype,19 cases were raised as males,and 8 cases(42.1％)com-plained of short penis and hypospadias.In the 18 cases of gonad biopsy,17 cases showed testicular tissue in go-nads.Whole exome sequencing was performed in 14 cases.NR5A1 gene heterozygous mutation,SRY gene muta-tion and SOX3 gene mutation were found in 2 cases,respectively(14.3％).Twenty cases were raised as females,and 14 cases(70.0％)complained of clitoral hypertrophy.Gonad biopsy was performed in 8 cases,with 7 cases of ovotestis(87.5％)and 1 case of NR5A1 gene heterozygous mutation(14.3％).Conclusions The etiologies of DSD are complex and diverse,and the clinical manifestations are various,which can be manifested as hypospa-dias,micropenis,cryptorchidism and other common symptoms of the urinary system.Different etiologies have dif-ferent treatment options.Therefore,chromosome karyotype,molecular genetic testing and gonadal pathology can be used to clarify the cause of disease,especially for rare diseases,improve the detection rate,reduce the rate of missed diagnosis,and ensure reasonable treatment,especially sex selection.

Objective:To analyze long-term prognosis and influencing factors of recurrence in vocal fold leukoplakia treated by endoscopic cordectomy with CO 2 laser. Methods:A retrospective review was conducted on 599 patients with vocal fold leukoplakia [566 males and 33 females, aged 17-84 years (median age 55 years)], undergoing endoscopic cordectomy by CO 2 laser under general anesthesia at the Department of Otorhinolaryngology Head and Neck Surgery of Beijing Tongren Hospital, Capital Medical University, from January 2000 to December 2023. The study analyzed the clinical features, pathological grade, surgical methods, postoperative voice function, recurrence, malignant changes and analyzed the long-term efficacy and and its influencing factors. The patients were followed up for a duration of 6-249 months postoperatively, with a median follow-up time of 48 months. SPSS 20.0 software was used for statistical analysis. Results:Among the 599 patients, the histopathological grades included simple squamous cell hyperplasia in ( n=264, 44.08%), mild dysplasia ( n=96, 16.03%), moderate dysplasia ( n=74, 12.35%), severe dysplasia( n=43, 7.81%), carcinoma in situ( n=35, 5.84%), and carcinoma in situ with microinvasion( n=87, 14.52%). The 3-year and 5-year overall recurrence rates were 12.91% and 16.00%, respectively. In patients with precancerous lesion, 3.91% of recurrences presented with an upgraded pathologic grade and 2.34% evolved into carcinoma. The risk of recurrence was higher in lesions involving the anterior commissure, larger lesions, significant reduction/absence of mucosal waves, neovascularization/suspected neovascularization, and pathology of dysplasia/carcinoma in situ/carcinoma in situ with microinvasion( F=44.76,21.54,11.55,8.78,23.20,respectively, P<0.05). Additionally, patients with recurrent disease exhibited higher reflux symptom index scores compared to those without recurrence. Exophytic lesion characteristics and the inability to cease smoking postoperatively were identified as independent risk factors for recurrence with an upgraded pathological grade, with odds ratios of 8.675 and 11.380 times greater than those with non-exophytic lesions and successful smoking cessation, respectively. At the 6-months postoperative assessment, patients who underwent subepithelial cordectomy (typeⅠ) demonstrated a statistically significant increase in fundamental frequency ( t=-3.38, P<0.05), and while other voice acoustic parameters were not significantly different.Conversely, those who underwent transmuscular cordectomy (TypeⅢ) exhibited significant alterations in multiple voice acoustic parameters when compared to preoperative values ( P<0.05). Furthermore, postoperative vocal fold adhesions developed in 84 patients with 13 of these individuals requiring surgical intervention for adhesion release. Conclusions:Lesions involving the anterior commissure, larger lesions, pathology of dysplasia/carcinoma in situ/carcinoma in situ with microinfiltration, significant reduction/absence of vocal fold mucosal waves, and neovascularization visible under NBI are indicative of an increased risk of recurrence, whereas exophytic lesions and the inability to cease smoking postoperatively significantly increase the risk of recurrence with elevated pathologic grade. Recovery of postoperative voice quality is procedure-dependent, underscoring the importance of surgical approach selection in the management of vocal fold leukoplakia.

The surveillance data of new cases of acute myocardial infarction (AMI) from January 1, 2013, to December 31, 2021, in Tengzhou City, Shandong Province, were used to analyze the incidence rate of AMI and its change trend among residents. The age and gender standardized incidence rate was calculated based on the 7th National Population Census 2020. The Cochran-Armitage trend test was used to analyze the trend of onset time and age. From 2013 to 2021, the crude and standardized incidence rate of total AMI in Tengzhou City declined from 130.07/100 000 and 161.12/100 000 to 76.15/100 000 and 72.77/100 000 ( Z=-13.785 and -20.822, both P<0.001). The crude and standardized incidence rates of males were higher than those of females. In 2016, males aged 45-54 years old and females aged 35-64 years old increased by 33.33%, 103.65%, 106.30%, and 95.75% compared to 2015, and the differences were statistically significant ( χ2=6.512, 4.965, 25.115, and 46.004, all P<0.05). The incidence rate of AMI in men aged<35 and 35-44 years old had an upward trend. From 2013 to 2021, the incidence rate of AMI decreased by 55.15% in urban areas and 36.59% in rural areas ( Z=-8.529 and -11.235, both P<0.001).

The surveillance data of new cases of acute myocardial infarction (AMI) from January 1, 2013, to December 31, 2021, in Tengzhou City, Shandong Province, were used to analyze the incidence rate of AMI and its change trend among residents. The age and gender standardized incidence rate was calculated based on the 7th National Population Census 2020. The Cochran-Armitage trend test was used to analyze the trend of onset time and age. From 2013 to 2021, the crude and standardized incidence rate of total AMI in Tengzhou City declined from 130.07/100 000 and 161.12/100 000 to 76.15/100 000 and 72.77/100 000 ( Z=-13.785 and -20.822, both P<0.001). The crude and standardized incidence rates of males were higher than those of females. In 2016, males aged 45-54 years old and females aged 35-64 years old increased by 33.33%, 103.65%, 106.30%, and 95.75% compared to 2015, and the differences were statistically significant ( χ2=6.512, 4.965, 25.115, and 46.004, all P<0.05). The incidence rate of AMI in men aged<35 and 35-44 years old had an upward trend. From 2013 to 2021, the incidence rate of AMI decreased by 55.15% in urban areas and 36.59% in rural areas ( Z=-8.529 and -11.235, both P<0.001).

Objective:To analyze the changing trend of intracerebral hemorrhage (ICH) incidence among residents with different characteristics during 9 years of comprehensive hypertension prevention and control (hypertension prevention and control) in Tengzhou from 2013 to 2021.Methods:From January 1, 2013 to December 31, 2021, the new ICH cases collected by the Center for Disease Control and Prevention in Tengzhou City were analyzed to calculate the incidence of ICH, and the trend of its distribution was analyzed among residents with different ages, sexes, and between urban and rural areas. The registered population information came from Tengzhou Public Security Bureau. Age and sex standardized incidence was calculated based on the 7th National Population Census in 2020. The Cochran-Armitage test was used to analyze the time and age trends of the incidence.Results:The overall ICH crude and standardized incidence in Tengzhou City decreased from 97.30/100 000 to 52.13/100 000 ( Z=-9.93, P<0.001) and 119.30/100 000 to 50.69/100 000 ( Z=-15.40, P<0.001) from 2013 to 2021, and both elevated to form a single peak in 2020, with 22.58% ( χ 2=24.02, P<0.001) and 18.09% ( χ 2=17.08, P<0.001) higher than in 2019, respectively. The trends in male and female incidence over the same period were similar to the overall trends, and the incidence was higher in males than in females in all years. The incidence of ICH increased with age in all years. The difference of increase in male incidence rate in 2020 was statistically significant in three age groups ≥45 years compared with 2019 (36.29%, 23.57% and 16.18%, respectively, χ 2=6.73, 4.65, 4.00, P<0.001). The incidence of ICH decreased by 70.07% and 36.23% ( Z=18.44, 5.22, P<0.001) in urban and rural areas respectively from 2013 to 2021, whereas increased by 34.15% ( χ 2=10.88, P<0.01) and 22.08% ( χ 2=18.63, P<0.001) in 2020 compared with 2019 separately. Conclusions:The incidence of ICH in Tengzhou from 2013 to 2021 showed a significant downward trend, with the decrease in the incidence of ICH in women exceeding that in men. The decrease in the incidence of ICH in urban areas exceeded that in rural areas, and male morbidity seemingly had a younger trend.

Objective: To investigate the expression of marker proteins in vocal cord leukoplakia, and to find markers for the early stage of diagnosis and prognosis of precancerous lesions. Methods: The study included 119 cases, 68 cases of vocal cord leukoplakia (22 cases with epithelial simple hyperplasia, 46 cases with epithelial dysplasia), and 51 cases of vocal cords benign lesions(31 cases of vocal cord polyps, 20 cases of Reinke′s edema). The expression of p53, Ki-67, p21, Survivin, p16, p27, PTEN, c-Myc and vascular endothelial growth factor (VEGF) in vocal cords leukoplakia were detected, vocal cord benign lesions (vocal cord polyps and Reinke′s edema) acted as controls, comparing the expression differences of different pathological tissue. Data was analyzed by SPSS 22.0 software. Results: The expression of p53, p16, Ki-67, VEGF in vocal cord benign lesions and vocal cords leukoplakia with epithelial simple hyperplasia did not show significant differences. There was a grading increase in the positive expression of p53, Ki-67 in the vocal cord leukoplakia with epithelial dysplasia contrasting to those in vocal cord benign lesions and vocal cords leukoplakia with epithelial simple hyperplasia (p53: χ²=13.340, P=0.002, Ki-67: χ²=53.386, P=0.000). The expression of p27, PTEN, c-Myc in vocal cord benign lesions and vocal cords leukoplakia with epithelial dysplasia did not show significant differences. There was a grading increase in the positive expression of p21 Survivin in vocal cords leukoplakia with epithelial dysplasia contrasting to those in vocal cord benign lesions (P<0.05). Expression of Survivin in vocal cords leukoplakia with mild-moderate epithelial dysplasia showed a significant increase than those in vocal cord benign lesions (P<0.05). The positive expression grade of p21 showed a rising trend (P=0.073) between the different grades of dysplasia. Conclusion The positive expression grade of p53, Ki-67, p21 Survivin showed an increase in vocal cords leukoplakia with epithelial dysplasia contrasting to those in vocal cord benign lesions, which might be an implication for evaluating the diagnosis and prognosis of precancerous lesions. Expression of p21 was correlated to the degrees of dysplasia and expression of Survivin showed a significant difference in early stage of epithelial dysplasia contrasting to benign lesions.

Objective To summarize the clinical characteristics of adult patients with residual yolk duct,and to explore the diagnosis and treatment strategy of residual vitelline duct in adults.Methods A retrospective analysis on 11 adult cases with residual vitelline duct in our hospital between June 2012 and May 2017 was carried out.Results 8 cases were males,3 cases were females,and median age was 50 years (18-57 y).2 cases were vitelline cyst,9 cases were Meckel diverticulum.2 cases were with ectopic tissue,3 cases with ulcer bleeding,1 case with secondary intra-abdominal hernia and intestinal obstruction,2 cases with secondary infection.The pathological diagnosis of Meckel diverticulum was consistent with preoperative diagnosis.There were no major postoperative complications.The patients were followed up from 6 months to 2 years.Conclusion Most of the residual vitelline duct in adults are Meckel diverticulum and vitelline duct cyst.Resection of residual vitelline duct is the main treatment method.

Objective To evaluate the diagnostic value of ultrasound-guided fine needle aspiration cytology(US-FNAC)in the assessment of radiologically detected ovarian neoplasms and retroperitoneal metastatic lymph nodes. Methods FNAC was performed under ultrasound guidance on 126 patients suspected of ovarian neoplasms and retroperitoneal metastatic lymph nodes. Cytologic examination was performed after staining smears with the haematoxylin and eosin method. Clinical data were retrieved from the medical records and all cytological specimens were reviewed. In these cases, the cytologic findings were correlated with histology of the primary tumor and were compared with surgical pathology. Results Satisfactory sampling was obtained in 86.2% of punctures, and cytological diagnosis was made in 85.7% cases. The size of the lymph nodes punctured was less than 20 mm in 93.5% cases, with the sensitivity of 81.6%、86.2%, specificity of 95.8%、100.0%, positive predictive value of 98.3%、100.0%, negative predictive value of 63.9%、33.3%, and accuracy of 85.3%、87.1%. Seven patients presented slight abdominal discomfort, and relieved without clinical treatment. Conclusions The fine needle aspiration technique has excellent positive predictive value and low morbidity. US-FNAC, as the valuable investigation, is not only useful in the diagnosis of ovarian masses and lymph nodes but can also help in choosing appropriate management. From our experience, US-FNAC can be added in follow-up of selected patients in whom the cytological identification of such masses and nodes is significant for the patient′s treatment.

Objective: To investigate the value of stroboscopy and narrow band imaging (NBI)endoscopy in the diagnosis of vocal cord leukoplakia. Methods: Two hundred and forty-six patients with vocal cord leukoplakia who underwent laryngeal microsurgery and diagnosed by histopathology were recruited between August 2014 and July 2016 in this retrospective study. The diagnostic accuracy of stroboscopy and narrow band imaging endoscopy in the diagnosis of vocal cord leukoplakia was compared. SPSS21.0 software was used to analyze the data. Results: A significantly positive correlation was found between the decrease grade of mucosal wave and the histopathological diagnosis(Spearman r=0.526, P<0.01). A significantly positive correlation was found between the lesion classified by detailed morphologic findings of epithelial microvessel and the histopathological diagnosis(Spearman r=0.480, P<0.01). The sensitivity of stroboscopy for detecting severe dysplasia, carcinoma and invasive carcinoma was 92.73%, higher than NBI endoscopy. The specificity of NBI endoscopy was 90.55%, higher than stroboscopy. The results of logistic regression analysis showed: the positive pathological type risk in the group with mucosal waves severely reduced and absent was 3.906 and 19.737 times higher than the group with mucosal waves slightly reduced. In the group with mucosal waves severely reduced and absent, significant difference was observed when combined use of NBI endoscopy(P<0.001, P=0.047). Conclusions In the diagnosis of vocal cord leukoplakia, stroboscopy is useful for detecting severe dysplasia, carcinoma and invasive carcinoma with high sensitivity. In the group with mucosal waves severely reduced and absent, combined use of NBI endoscopy was able to improve the diagnostic accuracy.

Objective To investigate the value of clinical characteristics in diagnosis of vocal fold paralysis (VFP) and arytenoid dislocation .Methods Eighty - eight patients of VFP and 27 patients of arytenoid dislocation were studied , by comparing the causes , laryngeal morphologic characteristics and laryngeal electromyography (LEMG) .Results The causes of 88 VFP patients included surgery (45 cases) ,neck trauma(2 cases) ,idiopathic causes(16 cases) ,infection(16 cases) ,and tumor invasion - related(9 cases) .Of the 27 arytenoid dislocation pa‐tients ,24 had a history of endotracheal intubation and the others had a history of gastric tube insertion .The vocal folds were mostly fixed at the paramedian position ,followed by the abducent position and the median position .No significant differences were found in laryngeal morphologic characteristics between the two groups ,including vocal fold shape , glottis vertical symmetry , mucosal waves , supraglottic compensation , glottis closure and arytenoid movement .The LEMG of VFP patients appeared as denervation patterns ,reinnervation potentials ,or electrical si‐lence ;the recruitment patterns appeared as mix or simple patterns ;the evoked potentials were absent .Of the VFP patients ,54 cases(61 .36% % )were found synkinesis of involved posterior cricoarytenoid and two of them also in ‐volved thyroatenoid .The patients with synkinesis had lower percentage of vocal fold bowing and higher percentage of glottic vertical asymmetry compared to the ones without synkinesis .Of the VFP patients whose cause was surgery or neck trauma ,the median - position fixed vocal folds were mostly observed in the patients with duration of less than 1 month or with synkinesis .Of the 27 arytenoid dislocation patients ,20(74 .07% )showed normal LEMG pat‐terns and 7(25 .93% )showed apparent LEMG abnormality on the affected side .Conclusion The causes of vocal fold paralysis and arytenoid dislocation are different .Laryngeal morphologic characteristics have limitations in distinguis‐hing vocal fold paralysis from arytenoid dislocation .The shape and position of involved vocal folds of the VFP pa‐tients are correlated with duration ,nerve regeneration and synkinesis .