This study was conducted retrospectively on a cohort of 68 patients with steroid 5 α-reductase 2 (SRD5A2) deficiency and 46,XY disorders of sex development (DSD). Whole-exon sequencing revealed 28 variants of SRD5A2 , and further analysis identified seven novel mutants. The preponderance of variants was observed in exon 1 and exon 4, specifically within the nicotinamide adenine dinucleotide phosphate (NADPH)-binding region. Among the entire cohort, 53 patients underwent initial surgery at Sichuan Provincial People's Hospital (Chengdu, China). The external genitalia scores (EGS) of these participants varied from 2.0 to 11.0, with a mean of 6.8 (standard deviation [s.d.]: 2.5). Thirty patients consented to hormone testing. Their average testosterone-to-dihydrotestosterone (T/DHT) ratio was 49.3 (s.d.: 23.4). Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome; and their T/DHT ratios were below the diagnostic threshold. Furthermore, assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants. These mechanisms include interference with NADPH binding (c.356G>C, c.365A>G, c.492C>G, and c.662T>G) and destabilization of the protein structure (c.727C>T). The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts. Seven novel variations were identified, and the variant database for the SRD5A2 gene was expanded. These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.
Humans ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Disorder of Sex Development, 46,XY/blood* ; Male ; Membrane Proteins/genetics* ; Child, Preschool ; Child ; Retrospective Studies ; Adolescent ; Female ; Mutation ; Testosterone/blood* ; Infant ; Dihydrotestosterone/blood*

Short-term closing live poultry markets have been frequently adopted to control H7N9 epidemic.To evaluate the effect of short-term closing live poultry markets,we analyzed the data of environment surveillance of H7 by RT-PCR,and the human H7N9 cases in Zhongshan City from Feb 2014 to May 2017.RRx =The positive rate during the x-th week after closing / the positive rate of the week before closing days * 100％.Three rounds of short-term closing live poultry markets were administered.Round one:from Feb 10 to 23,2014,the neighboring cities didn't synchronize.The H7 positive rate increased since the trade recovered,and RR1 =0.40 (95％CI:0.28-0.59),RR3 =0.63 (95％CI:0.32-1.24),RR4 =0.83 (95％CI:0.48 -1.46).Two human cases were reported in May,2014.Round two:from Feb 19 to 28,2015,the neighboring cities synchronized as the province policy.The H7 positive rate maintained a level lower than 10％ since the trade recovered,and RR1 =0.15 (95％CI:0.07-0.34),RR2=0.21 (95％CI:0.10-0.41),RR3 =0.03 (95％CI:0.00-0.18),RR4 =0.10 (95％CI:0.04-0.27).No more human cases reported in that epidemic season.Round three:from Jan 8 to 21,2017,the neighboring cities didn't synchronize with Zhongshan City.The H7 positive rate had increased since the trade recovered,and RR1 =0.25 (95 ％ CI:0.09-0.68),RR3 =0.37 (95％CI:0.14-1.00),RR4 =1.07 (95％CI:0.54-2.11).Two human cases were reported in Feb,2017.Results indicated that,if the policy of closing live poultry markets was administered in single city,the environment pollution rate would rise shortly and the risk of human infection would increase once the trade recovered.However,if it was synchronously administered in all the cities in one region,the environment pollution rate could maintain at a low level and the risk of human infection would reduce enormously.

Objective To observe the protective mechanisms of zingiber officinalis extract on the lens of diabetic rats induced by streptozotocin (STZ).Methods Totally 60 SD rats were randomly divided into A group (normal control rats),B group (diabetic rats),C1 group (DM +50 mg · kg-1 ginger gavage),C2 group (DM + 100 mg ·kg-1 ginger gavage) and C3 group (DM + 300 mg · kg-1 ginger gavage).Each group had 12 rats.And rats in A group received intraperitoneal injection of the same volume of normal saline,while the other groups were intraperitoneally injected with 65 mg · kg-1streptozotocin (STZ).When the animal model was successfully established,both A group and B group were administered orally with normal saline,and the C1,C2 and C3 groups were administered orally with ginger rhizome extract.The changes in blood glucose and lens were observed every week.The rats were sacrificed in succession at 4 week,8 week,12 week,and the lens was removed immediately.The content of aldose reductase (AR) was detected by ELISA,and the expression of glycosylation end products (AGEs) was detected by Western blot.The superoxide dismutase (SOS) activity and malondialdehyde (MDA) content were also detected.Fluorescent Tunel staining was used to detect the apoptosis of the lens epithelial cells.And finally,scanning electron microscopy was used to observe the ultrastructural changes in the lens.Results The activity of SOD in the lens of diabetic rats showed a decreasing trend with statistical significance (all P ＜ 0.05).Changes in the content of MDA in the lens of rats in B,C1,C2 group were statistically significant in 4,8 and 12 weeks after successful modeling (all P ＜ 0.05),but no significant difference in A group and C3 group (both P ＞ 0.05).The persistent increase of AR in group B (P =0.003).The content of AR of the lens in C1,C2,C3 group showed a decreasing trend,and the differences were statistically significant (all P ＜ 0.05).There were significant differences in the expression of AGEs in C1,C2 and C3 group (all P ＜ 0.05).The degree of cortical fiber destruction in group B was progressively aggravated,but the degree of cortical destruction in C1,C2 and C3 group decreased with the increase of ginger gavage concentration through the scanning electron microscopy.It was observed that there was no significant difference in the apoptotic rate of LECs in A group (P =0.191),but the apoptosis of LECs in the rest group showed a rising trend,and the differences were statistically significant (all P ＜ 0.05).Conclusion The effects of ginger gavage extract can delay the opacification of lens and slow down the diabetic development in rats with a dose-independence manner.Ginger gavage extract may play a protective role on the lens of diabetic rats by inhibiting the activity of AR,oxidative stress and the production of AGEs as well as suppress the apoptosis of lens epithelial cells.

OBJECTIVETo study the clinical characteristics of urticaria in children versus adults, and to provide reference for the etiological analysis, disease evaluation, and treatment of urticaria in children.

METHODSThe clinical data of 2 411 patients with urticaria who visited the Department of Dermatology at Xiangya Hospital of Central South University from January 2013 to May 2017 were collected to study their socio-demographic characteristics. The clinical characteristics of urticaria were compared between the 68 children and 672 adults of the 740 patients with complete follow-up data.

RESULTSAmong the 411 pediatric patients, 314 (76.4%) had acute urticaria; among the 2 000 adult patients, 896 (44.8%) had chronic spontaneous urticaria. The causes of acute urticaria in children included infection (41%, 16/39). The accompanying symptoms of acute urticaria in children mainly included abdominal pain and diarrhea (44%, 17/39), while those in adults mainly included chest distress and shortness of breath (32%, 11/34). Compared with the adult patients, the pediatric patients had significantly lower chronic urticaria activity scores before and after treatment (P<0.05), a significantly higher rate of response to second-generation antihistamines (82.1% vs 62.2%; P<0.05), and a significantly higher proportion of individuals with a personal and family history of urticaria (P<0.05).

CONCLUSIONSAcute urticaria is more commonly seen than chronic urticaria in children with urticaria, and the main accompanying symptoms are abdominal pain and diarrhea, which are different from adults with urticaria. Chronic urticaria has a better treatment outcome in children than in adults. The most frequently seen cause of acute urticaria is infection in children. Atopic children may be susceptible to urticaria.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Urticaria ; drug therapy ; etiology ; Young Adult

OBJECTIVETo summarize the etiology and treatment of gynecomastia in male children.

METHODSThe clinical data of 38 boys with gynecomastia at ages of 2-14 years were retrospectively studied.

RESULTSIn the 38 cases, 17 cases were identified as adolescent breast hyperplasia, 2 cases were relevant to primary disease, 4 cases were caused by ingestion of drugs containing hormone, and 15 cases did not show identifiable causes and were diagnosed as idiopathic gynecomastia. For the 3 children with breast development in B3 stage, oral rupixiao was administered (1.34 g, tid) for one month. For 16 children at ages of over 12 years with breast development in B2 stage and with obvious clinical symptoms, oral rupixiao was administered (1.34 g, tid) for 3-5 days. The other patients did not receive drug treatment. In a one month to one year follow-up, most of the patients recovered well.

CONCLUSIONSThe etiology of gynecomastia in male children includes adolescent breast hyperplasia, ingestion of drugs containing hormone and secondary causes. Most gynecomastia can be attributed to physiological reasons. Only a few children with obvious clinical symptoms need drug treatment.

Adolescent ; Child ; Child, Preschool ; Gynecomastia ; etiology ; therapy ; Humans ; Male ; Retrospective Studies

Objective To study the organ damage in patients with systemic lupus erythematosus (SLE) and its significance in prognosis. Methods The SLE damage index (SDI) was used to evaluate 121 female and 15 male patients. Results Among these patients, the lowest and the highest SDI was 0 or 9, separately (average: 1.79 ? 2.22). Most damaged organ was renal (39.0%), followed by muscle/skeletal system (19.9%) and cardiovascular system (18.4%). There was statistically significant difference of SDI in different groups of prognosis, life condition or disease duration ( 10 years). However, there was no significant difference of SDI in different sex groups. The correlation analysis revealed that the age at onset or diagnosis was not related to SDI. Conclusion SDI is effective in evaluating the organ damage in predicting prognosis of SLE patients.