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*

Methotrexate (MTX) injection has a short half-life and significant toxic side effects. In order to overcome the demerits of MTX injection, MTX@COF was prepared for subcutaneous injection by loading MTX in crosslinked cyclodextrin metal-organic framework (COF) in this study. The cationic lipid material (2, 3-dioleoyl-propyl)-trimethylamine (DOTAP) was then coated on the MTX@COF surface by solvent evaporation. Different surface charge characteristics were observed in the coated MTX@COF@DOTAP with no significant change in particle morphology. The in vitro release behaviors of sustained-release particles were investigated in water and phosphate buffer (pH 7.4), and the in vivo release characteristics were evaluated for pharmacokinetics in rats. The in vitro release results showed that the cumulative release of MTX, MTX@COF and MTX@COF@DOTAP within 6 h was 92.70%, 36.31% and 18.19% in water, respectively; the cumulative release of MTX, MTX@COF and MTX@COF@DOTAP within 4 h was 90.82%, 79.37% and 58.30% in phosphate buffer, respectively; the results showed that MTX@COF can significantly delay the release of MTX, the modification to MTX@COF by DOTAP can further delay the release of MTX. Pharmacokinetic studies in rats showed that the mean retention time [MRT_(0-t)] and the time to peak (T_max) of the subcutaneous injection of MTX@COF@DOTAP group were significantly prolonged compared with the MTX@COF group and the MTX group. The area under the concentration-time curve [AUC_(0-t)] of the MTX@COF@DOTAP subcutaneous injection group was 1.8 times high as that of the MTX group. In this study, MTX@COF@DOTAP particles had a certain sustained-release effect, and could prolong the bioavailability of MTX by subcutaneous injection, which provided a new idea for the development of new MTX dosage forms.

Objective The aim of this study was to investigate associations of overall obesity (OO) and abdominal obesity (AO) with brachial-ankle pulse wave velocity (baPWV) among type 2 diabetes(T2DM) patients. Methods A community-based study for T2DM patients was conducted in rural communities in Beijing．Every patient completed a questionnaire to collect demography, lifestyle and diseases history, and underwent physical examinations, baPWV assessments and blood biochemical tests. Multivariate linear regression was used to assess the relationship between obesity index and baPWV. Abnormal baPWV was defined as patients with baPWV≥1,700 cm/s. Logistic regression model was performed to explore the risk of abnormal baPWV after adjusting for poetential confounders step by step. Results A total of 2 048 T2DM patients were recruited. The average age was (59.2±8.3) years and total prevalence of abnormal baPWV was 49.7%. After multivariable adjustment, linear regression showed that there was a negative correlation between body mass index(BMI) and baPWV and a positive correlation between waist-to-hip ratio (WHR) and baPWV. Compared to normal weight group, those with BMI≥28 kg/m2 had lower risk of abnormal baPWV (OR=0.59, 95% CI: 0.44-0.78，P<0.001), but there was an increased risk of 46% among patients with obesity in WHR (OR=1.46, 95% CI:1.07-2.00，P=0.018). Compared to those without OO and AO, patients without OO but with AO had a 1.67-fold increasesd risk of abnormal baPWV (OR=1.67, 95% CI: 1.19-2.35，P=0.003). Conclusions Abdominal obesity is related with arterial stiffnening among T2DM patients, and it is critical to evaluate arterial stiffness of T2DM patients with abdmonal obesity and normal BMI in order to reduce future risk of cardiovascular diseases.

Objective To understand the application situation of Chinese patent medicine during 2014-2017 in Changshu No.1 People's Hospital (hereinafter referred to as "our hospital"); To provide references for clinical rational medication. Metheds The data of Chinese patent medicine used in our hospital in 2014-2017 were retrieved from our hospital HIS. The consumption sum, annual growth rate, DDDs, sorting ratio and DDDc of Chinese patent medicine were analyzed statistically according to the defined daily dose recommended by WHO. Results During 2014-2017, the consumption sums of Chinese patent medicine were 49.155 2 million yuan, 51.352 7 million yuan, 49.463 7 million yuan and 45.650 4 million yuan, respectively. The consumption sums of Chinese patent medicine of 2015, 2016 and 2017 increased by 4.47％, -3.68％ and-7.71％, respectively. The proportions of consumption sum of Chinese patent medicine in all medicines were 13.63％ in 2014, 13.36％ in 2015, 12.83％ in 2016 and 12.44％ in 2017. Of all the dosage forms of Chinese patent medicine, capsule (32.67％), injection (25.21％) and tablet (14.71％) ranked the top 3 on the list of consumption sum. Of all the single kinds of Chinese patent medicine, blood rationing medicine, heat-clearing medicine and tonifying medicine ranked the top 3 on the list of consumption sum. The blood rationing medicine, gynecologic medicine and tonifying medicine ranked the top 3 on the list of DDDs. The first varieties of single item of consumption sum were salvianolate injection, Pudilan Xiaoyan Oral Liquid and Xueshuantong Injection (freeze-dried). The first varieties of single items of DDDs were Yinxing Tongzhi Dispersible Tablet and Pudilan Xiaoyan Oral Liquid. Conclusion The use of Chinese patent medicine in our hospital is becoming more reasonable, and the role and advantages in the prevention and control of diseases are constantly emerging. However, there are still problems about irrational medication, which need to be further strengthened.

Objective To evaluate the protective efficacy of influenza vaccine in the elderly in China. Methods The Chinese databases (CNKI, Wan Fang, VIP) and English databases (Pubmed, Embase) were searched, then studies related to the protective efficacy of influenza vaccine in the elderly according to pre-designed criteria were included and the vaccine efficacy(VE) was selected as an evaluation index. Rev Man 5.3 and Stata 12.0 were used in this meta analysis. Results A total of 26 studies (2000-2016) including 6 kinds of outcomes were eligible, of which, 22 articles related to influenza like illness (ILI) , 5 articles related to common cold (CC) , 11 articles related to the attendance rate due to ILI and CC, 7 articles about chronic diseases (including Hypertension, Diabetes, Coronary Heart Disease (CHD) , Stroke, Cancer, Chronic bronchitis and others) , 6 articles about chronic disease treatment and 3 articles about all-cause mortality. The VE of influenza vaccine was 58.00% (95%CI: 48.00%-66.00%), 40.00%(95% CI: 30.00%-50.00%), 42.00% (95% CI: 34.00%-49.00%), 17.00% (95% CI: 11.00%-23.00%), 28.00%(95% CI: 14 .00 % -40.00 %) and 28 .00 % (95% CI: 15 .00 % -39 .00 %) , respectively. Conclusion Influenza vaccination can effectively prevent the occurrence of influenza like disease and other symptoms in the elderly in China.

At present, the objective of cutting and pruning Cistanche deserticola is to harvest in successive years and enhance the harvesting yield and quality of C. deserticola in the process of the artificial cultivating C. deserticola. An experiment was conducted focusing on cutting and pruning C. deserticola in artificial forests of Haloxylon ammodendron drip-irrigated with saline water at the hinter-land of the Taklimakan desert, according to different growth stages and lengths. The results were following: (1) The effect of cutting on C. deserticola was similar to that of pruning, which resulted in three kinds of morphological types, not related to the bloom and size of C. deserticola. (2) The growth forms were diversified after pruning. Among them, there had sprouting new body, died or maintaining life with no sprouting, mildewed on its surface layer, etc. However, some of new bodies were sprouting from the lower part of the old body. The death rate of bloomed C. deserticola was higher than that of the underground, and the death rate of the 40 cm in stubble height for C. deserticola was higher than those with the stubble height of 20 cm and 5 cm. (3) Most of the diameter of living C. deserticola after pruning was increasing, but some of them changed little. (4) The mildew and rot of C. deserticola and the broken of the roots of the H. ammodendron and the fallen of the point of the inoculated when it was dug, which would cause the death of the C. deserticola. On the other, the yield-increasing effect and the economic benefit of the techniques of the pruning of Cistanche would need further research and evaluate. Therefore, the application of this technique needs to be cautious.
Amaranthaceae ; growth & development ; Cistanche ; growth & development ; Forests ; Fruit ; growth & development ; Plant Roots ; growth & development

OBJECTIVETo evaluate the clinical efficacy and safety of sequential treatment with alprostadil and beraprost sodium for chronic renal failure caused by chronic glomerulonephritis.

METHODSSixty-three patients with chronic renal failure due to chronic glomerulonephritis, after receiving a 2-week-long conventional treatment, were randomly divided into alprostadil group (n=20, with alprostadil injection at 10 µg/d for 2 weeks), sequential treatment group (n=21, with alprostadil injection at 10 µg/d for 2 weeks and oral beraprost sodium at 20 µg three times a day for 12 weeks), and strengthened sequential treatment group (n=22, with alprostadil injection at 20 µg/d for 2 weeks and a double dose of oral beraprost sodium for 12 weeks). Urinary albumin excretion rate (UAER), cystatin C (Cys C), blood urea nitrogen, creatinine, fibrinogen, D-dimer, prothrombin time (PT), and platelets were tested before and after the treatment, and the changes in urinary albumin discharge rate, serum creatinine, and glomerular filtration rate were determined.

RESULTSThe patients in strengthened sequential treatment group showed a significantly decreased change rate of urinary albumin discharge rate (P<0.01) than those in the other two groups. In the two sequential treatment groups, especially the strengthened treatment group, the change rate of glomerular filtration rate increased significantly compared with that in alprostadil group (P<0.01). Strengthened sequential treatment resulted also in significantly decreased increment of serum creatinine compared that in the other 2 groups (P<0.01). After 14 weeks of treatment, fibrinogen and D-dimer were decreased in all the 3 groups (P<0.05) to a comparable level between the 3 groups (P>0.05), and prothrombin time (PT) or platelet showed no significant changes (P>0.05).

CONCLUSIONSequential treatment with alprostadil and beraprost sodium can improve the glomerular filtration rate and decrease urine albumin excretion rate, serum creatinine increase rate, and lower blood fibrinogen and D-dimer levels, thus delaying the progression of chronic renal failure caused by chronic glomerulonephritis. This therapy shows a dose-related effect with good clinical safety.

Adolescent ; Adult ; Aged ; Alprostadil ; therapeutic use ; Blood Urea Nitrogen ; Chronic Disease ; Creatinine ; blood ; Drug Therapy, Combination ; Epoprostenol ; analogs & derivatives ; therapeutic use ; Female ; Fibrin Fibrinogen Degradation Products ; metabolism ; Fibrinogen ; metabolism ; Glomerular Filtration Rate ; Glomerulonephritis ; complications ; Humans ; Kidney Failure, Chronic ; blood ; drug therapy ; etiology ; Male ; Middle Aged ; Platelet Aggregation Inhibitors ; therapeutic use ; Platelet Count ; Prothrombin Time ; Urological Agents ; therapeutic use ; Young Adult

Reports of influenza A virus infections in dogs has received considerable attention from veterinarians, virologists, and epidemiologists. Interaction between influenza viral hemagglutinin and cell oligosaccharides containing sialic acid residues results in infection. Sialic acids have an alpha-2,3-linkage to the penultimate galactose in the avian influenza virus receptor and an alpha-2,6-linkage in the human receptor. To date, there are no detailed data on the tissue distribution or histological features of either type of sialic acid-linked influenza virus receptors in beagle dogs, which are common laboratory animals and pets. We conducted the current study to visualize the in situ tissue distribution of both sialic acid-linked influenza virus receptors in various organs of beagle dogs using Maackia amurensis lectin II and Sambucus nigra agglutinin. Both alpha-2,3- and alpha-2,6-sialic acid-linked receptors were detected in the endothelial cells of the respiratory tract and other organs. Endothelial cells of most gastrointestinal organs were negative for alpha-2,3-sialic acid-linked receptors in the dogs. Our results suggested that these canine organs may be affected by influenza virus infection. The findings from our study will also help evaluate the occurrence and development of influenza virus infections in dogs.
Animals ; Dog Diseases/metabolism ; Dogs/metabolism/*virology ; Female ; Influenza A Virus, H5N1 Subtype/*metabolism ; Maackia/chemistry ; Male ; N-Acetylneuraminic Acid/metabolism ; Organ Specificity ; Orthomyxoviridae Infections/metabolism/transmission/veterinary ; Plant Lectins/metabolism ; Receptors, Cell Surface/analysis/chemistry/metabolism ; Receptors, Virus/analysis/chemistry/*metabolism ; Sambucus nigra/chemistry

Objective To report the effect of clinical nursing and rehabilitative treatment on pectoralis minor taking along flap transplantation for the reconstruction of thumb.Methods Ten cases were selected and the new operation methods was adopted.The preoperative examination and mental counseling were implemented.Postoperative monitoring,early electrical stimulation and continuous passive motion functional exercise,especially the training in finger-to-thumb opposition activity were performed.Results Ten cases after operation were followed-up in 12-24 months and all were recovered within 6-12 months.Muscle strength of all 10 cases achieved above class 4 and the shape of thenar eminence was satisfactory.Conclusions Selecting part of the pectoralis minor taking along flap for transplantation to the thenar is a new method for thumb opposition reconstruction,which can achieve good outcome.In addition,sufficient preoperative mental counseling and effective postoperative rehabilitative treatment play crucial role in ensuring the success of operation and the recovery of thumb opposition function.

Objective To explore the effect of honeysuckle lotion on the primary hepatic cancer patients taking sorafenib with the complication of hand and foot blisters.Methods Totals of 45 patients who took sorafenib and complicated with the hand and foot blisters were randomly divided into experimental group ( n =23 ) and control group( n =22).The experimental group were soaked in honeysuckle lotion accompany with topical urea ointment,while control group received topical urea ointment.Then,the clinical effective and healing time of two groups were observed.Results There was no significant difference detected in age,lesion and general between two groups.The clinical treatment effective rate of experimental group was 91.3％ significantly better than 59.1％ that of control group ( x2 =8.494,P ＜ 0.05 ).The healing time of experimental group was (8.5 ± 4.2)d and that of control group was (11.8 ± 6.3 )d,and the difference was statistically significant (t =2.92,P ＜ 0.05 ).Conclusions The honeysuckle lotion application can promote wound healing for primary hepatic cancer patients taking sorafenib with the complication of hand and foot blisters.And it is worthy for clinical application.