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*

Objective Coronavirus disease 2019 (COVID-19) and tuberculosis (TB) are major public health and social issues worldwide. The long-term follow-up of COVID-19 with pulmonary TB (PTB) survivors after discharge is unclear. This study aimed to comprehensively describe clinical outcomes, including sequela and recurrence at 3, 12, and 24 months after discharge, among COVID-19 with PTB survivors. Methods From January 22, 2020 to May 6, 2022, with a follow-up by August 26, 2022, a prospective, multicenter follow-up study was conducted on COVID-19 with PTB survivors after discharge in 13hospitals from four provinces in China. Clinical outcomes, including sequela, recurrence of COVID-19, and PTB survivors, were collected via telephone and face-to-face interviews at 3, 12, and 24 months after discharge. Results Thirty-two COVID-19 with PTB survivors were included. The median age was 52 (45, 59) years, and 23 (71.9％) were men. Among them, nearly two-thirds (62.5％) of the survivors were moderate, three (9.4％) were severe, and more than half (59.4％) had at least one comorbidity (PTB excluded). The proportion of COVID-19 survivors with at least one sequela symptom decreased from 40.6％ at 3 months to 15.8％ at 24 months, with anxiety having a higher proportion over a follow-up. Cough and amnesia recovered at the 12-month follow-up, while anxiety, fatigue, and trouble sleeping remained after 24 months. Additionally, one (3.1％) case presented two recurrences of PTB and no re-positive COVID-19 during the follow-up period. Conclusion The proportion of long symptoms in COVID-19 with PTB survivors decreased over time, while nearly one in six still experience persistent symptoms with a higher proportion of anxiety. The recurrence of PTB and the psychological support of COVID-19 with PTB after discharge require more attention.

OBJECTIVE: To investigate the effect of total hip arthroplasty(THA) with the prosthesis of 127° small neck stem angle and 135° large neck stem angle. METHODS: From January 2014 to June 2016, 84 patients with THA were selected, including 44 males and 40 females, aged 45 to 72(53.4±8.1) years old, 68 patients with necrosis of the femoral head(32 on the left and 36 on the right), 16 patients with serious osteoarthritis of the hip caused by other reasons, and the course of disease was 9 to 36 (24.0±5.5) months. Forty-two patients in each group were evaluated by Harris score, visual analog score(VAS), length measurement of lower limbs, biomechanical evaluation of different angles of the neck stem. The complications and quality of life 24 months after operation were compared. RESULTS: Two patients in each group were lost, the rest were followed up for 30 to 36 (33.0±1.6)months. The Harris score and the length of both lower limbs were measured before and 1, 6, 12, 24 months after operation. The difference of Harris score and the length of both lower limbs in the two groups was significantly improved compared with that before operation( CONCLUSION THA with large and small neck stem angle prosthesis can better recover the function of hip joint, but large neck stem angle can reduce the degree of postoperative pain and improve the quality of life of patients.
Aged ; Arthroplasty, Replacement, Hip ; Female ; Hip Joint/surgery* ; Hip Prosthesis ; Humans ; Male ; Middle Aged ; Quality of Life ; Retrospective Studies ; Treatment Outcome

In order to understand the difference of contents of coelonin,batatasin Ⅲ and 3'-O-methylbatatasin Ⅲ in 60 different sources of Bletilla striata planted under the same conditions. UPLC method was used and the analysis was performed on a Waters ACQUITY UPLC BEH C18 column( 2. 1 mm×100 mm,1. 7 μm),eluted with acetonitril-0. 1% formic acid solution by gradient. The flow rate was 0. 208 m L·min-1,the detection wavelength was 270 nm,the column temperature was 35 ℃ and the injection volume was 4μL. Under the above chromatographic conditions,the three components can be separated well with good linearity in the range of 0. 156-5. 000 mg·L-1. The average contents of coelonin,batatasin Ⅲ and 3'-O-methylbatatasin Ⅲ were( 0. 116 ± 0. 071) %,( 0. 386 ±0. 185) % and( 0. 086±0. 034) %,respectively. After planting for two years under the same conditions,there was no significant difference in chemical composition among different sources and varieties,but the contents of the three components had some regional differences,which indicated that the western region was higher than the eastern region,while the contents of coelonin and batatasin Ⅲ in B.sinensis were slightly higher than those in B. striata. The chromatographic method above is simple,stable and reproducible,and can be used for quantitative analysis of three components. The content analysis of different sources of B. striata can provide reference for future B. striata breeding and quality control.
Chromatography, High Pressure Liquid ; Drugs, Chinese Herbal ; chemistry ; Orchidaceae ; chemistry ; Quality Control

Measurement of corpse temperature is mainly used for estimation of early postmortem interval, and rectal temperature is often used as a representative of body's core temperature in actual work because it is simple, quick and non-invasive. At present, the rectal temperature postmortem interval estimation method internationally accepted and widely used is HENSSGE's nomogram method, while many domestic scholars also deduced their own regression equations through a large number of case data. Estimation of postmortem interval based on rectal temperature still needs further study. The nomogram method needs to be optimized and extended, and quantification of its influencing factors needs to be dealt with more scientifically. There is still a lack of consensus on the probability and duration of the temperature plateau. There is no clear understanding of the probability and extent of the change in initial temperature caused by various causes. New methods and ideas enrich methodological research, but it still lacks systemicity and practicality. This article reviews the researches on estimation of postmortem interval based on rectal temperature in order to summarize the current situation of previous researches and seek new breakthrough points. Because the decline of body temperature can be easily influenced by many factors in vitro and vivo, and the influencing factors in different regions vary greatly, regionalization research and application may be a practical exploration to improve the accuracy of postmortem interval determination.
Autopsy ; Body Temperature ; Cadaver ; Humans ; Postmortem Changes ; Probability ; Temperature ; Time Factors

Objective To analyze the clinical features, treatment outcomes and prognosis of patients with urinary tract lymphoma. Methods The clinical data of 16 patients in Tongji Hospital of Tongji University from January 2009 to April 2016 were collected and retrospectively analyzed. Results The median age of these patients was 68 years. The onset symptoms of 14 cases were related to urinary system and imaging studies of 10 cases showed masses in the urinary system. The onset regions of lymphoma included:4 cases were renal lymphoma, 5 cases were adrenal lymphoma, 5 cases were testicular lymphoma, 1 case was prostate lymphoma and 1 case was from urethral mouth. The histological type of 12 cases was diffuse large B-cell lymphoma and 10 patients were non-germinal center B cell-like (non-GCB) molecular profiling. Twelve cases belonged to Ann Arbor stages ⅢE- ⅣE, 10 cases had international prognostic index scores ≥3, and 7 cases had B symptoms. 10 patients were confirmed by surgery. Fourteen cases accepted rituximab-containing regimen chemotherapy. Five cases achieved complete response and 3 were partial response. Conclusions The clinical manifestations and imagine examination of patients with urinary tract lymphoma are lack of specificity. The clinical features are highly aggressive and most of the patients are diagnosed at advanced stage. The main histological type is diffuse large B-cell lymphoma and non-GCB molecular profiling. Treatment regimens include surgery combined with chemotherapy and radiotherapy. Earlier diagnosis and treatment may improve the survival of patients.

Objective To help the medical student to master the principle and operation of magnetic resonance imaging instrument.Methods The imaging principle,structure and functions of HT-3DNMR-25 magnetic resonance imaging instrument were described,and its application to experiment teaching was introduced including one-dimension imaging,two-dimension imaging,free induction decay signal observation and etc.Results The instrument facilitated the student to master technical principle,imaging method as well as parameters setup and regulation,and could be a supplement to clinical practical teaching.Conclusion The instrument plays an irreplaceable role in teaching,and thus is worthy promoting in colleges.

To observe the hypoglycemic effect of Qizhi Jiangtang capsule in rats with type 2 diabetes, and investigate the preliminary mechanism of its hypoglycemic effect, type 2 diabetes rat models were established by high glucose and high fat combined with small dose of streptozotocin (STZ). After continuous administration for 6 weeks, blood glucose, and glycosylated serum protein (GSP) levels were detected in all of the animals; immunohistochemistry assay was used to detect the number of islet β cells; Western blot assay was used to detect the protein expression levels of insulin receptor (InsR), phosphoinositide-3 kinases (PI3K), glucose transporter-2 (GLUT2) and phosphorylated Jun N-terminal kinases (p-JNK)in hepatic tissues. The results showed that Qizhi Jiangtang capsule could reduce the blood sugar and GSP levels in serum in animals with type 2 diabetes mellitus, increase the level of insulin in serum and number of islet β cells, increase the protein expression levels of InsR, PI3K and GLUT2, and reduce the level of p-JNK protein expression. In conclusion, Qizhi Jiangtang capsule has relatively stable hypoglycemic effect, and the mechanism may be associated with increasing the number of islet β cells and level of insulin in serum, up-regulating the protein expression levels of InsR, PI3K and GLUT2, down-regulating the level of p-JNK protein expression in hepatic tissues, and reducing the level of insulin in hepatic tissues.

OBJECTIVETo investigate how network education can improve college students' knowledge on sexual and reproductive health in Ningbo city.

METHODSFrom December 2012 to June 2013, we conducted a questionnaire investigation among college students in Ningbo city about the effects of network education on their knowledge about sexual psychology, sexual physiology, sexual ethics, and reproductive health.

RESULTSA total of 7 362 college students accomplished the investigation, of whom 2 483 (42.1% males and 57.9% females) received network education, while the other 4 879 (24.1% males and 75.9% females) did not. Approximately 47.1% of the male and 28.0% of the female students acquired sexual and reproductive knowledge via network education. Reproductive health-related network education significantly enriched the students' knowledge about the reproductive system and sex, pubertal development, sexual physiology, conception and embryonic development, methods of contraception, sexual psychology, sexually transmitted diseases and their prevention, pregnancy care and eugenics, and environment- and occupation-related reproductive health (P < 0.01). It also remarkably improved their cognitive attitude towards reproductive health knowledge (P < 0.01). Those who received reproductive health-related network education showed a significantly higher rate of masturbation (P < 0.01) but markedly later time of the first masturbation (P < 0.01) than those who did not.

CONCLUSIONNetwork education can enhance the effect of reproductive health education among college students and improve their sexual experience and health.

China ; Contraception ; Female ; Health Education ; Health Knowledge, Attitudes, Practice ; Humans ; Male ; Masturbation ; Pregnancy ; Reproduction ; Reproductive Health ; Sexual Behavior ; physiology ; psychology ; Sexually Transmitted Diseases ; Students ; Surveys and Questionnaires ; Universities

Adult ; Aged ; Humans ; Male ; Middle Aged ; Mining ; Occupational Exposure ; Pneumoconiosis ; complications ; mortality ; Survival Analysis ; Tuberculosis ; complications ; mortality