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:To investigate the value of autoantibodies and serum levels of IgG4 and CA19-9 in the diagnosis of IgG4 associated cholangitis (IgG4-SC).Methods:Detect the serum IgG4 and CA19-9 of 41 clinical cases of IgG4-SC patients,162 clinical cases of non IgG4-SC patients and 40 healthy human serum samples by immunoassay and direct chemiluminescence methods, also detect the antinuclear antibodies (ANA),anti neutrophil antibody (ANCA),anti smooth muscle antibody (SMA) and anti mitochondrial antibody (AMA) of the above serum samples by indirect immunofluorescence and analyze the detection results.Results:①The positive rates of ANA,ANCA,SMA and AMA in patients with IgG4-SC were 41.46%,7.32%,0 and 2.44%.Among them,the positive rate of ANA was significantly different from that of the normal control group(P<0.01),and the positive rate of SMA and AMA was significantly different from that of non IgG4-SC group(P<0.01),and so as the positive rate of ANCA do with that of PSC group.②The number of serum IgG4 and CA19-9 increased samples were significantly compared with the normal control group (P<0.01);the area under the ROC curve (AUC) was 0.979 and 0.646,respectively,and P<0.05.Conclusion:The high level of serum IgG4 and CA19-9 and autoantibody detection are of great accuracy and important clinical value in the differential diagnosis of IgG4-SC.

To explore the effects of crude toxins from Colletotrichum gloeosporioides(C. gloeosporioides)on the growth of Dendrobium officinale Kimura et Migo(D. officinale),and to provide early basis for thescreening and cultivation of the resistant variants of C. gloeosporioides. Methods Seedlings of D. officinal werecultivated in MS medium added with different concentrations of the crude toxins from C. gloeosporioides. Theeffects of the crude toxin on the growth of seedlings were observed, and the optimum resistance -selectionthreshold was preliminarily screened. Results In the concentration range of 5％ - 15％(volume fraction),crudetoxins from C. gloeosporioides increased the plant height,stem diameter,number of new bud,root number,and fresh mass of D. officinale,among which the effect of 5％(volume fraction)of crude toxins was the moststrongest. In the concentration range of 35％ - 40％(volume fraction),crude toxins suppressed the plant height,leaf number,number of new bud,root number,and the fresh mass of D. officinale. When cultured with 20％(volume fraction)crude toxins, D. officinale was blooming, and the flowers appeared variation phenomenon.Conclusion The crude toxins from C. gloeosporioides have biological activity and certain toxicity,which can beconsidered as a selection agent instead of pathogenin in vitro to screen the resistant variant of D. officinale,butthe optimum resistance-selection threshold still needs further research.

Objective To analyze the misdiagnosis reasons of lung lesions detected by 18 F-FDG PET-CT .Methods Twenty-seven cases of misdiagnosed lung lesions were retrospectively analyzed ,including 14 cases of benign lesions misdiagnosed as lung cancer and 13 cases of lung cancer misdiagnosed as benign lesion ,which were analyzed from the aspects of the CT signs ,lesion size , SUVmax value ,SUVmax value at two-phase PET and clinicopathology .Results The CT signs in the false positive group were mainly manifested as clear border ,uniform density and so on ,while which in the false negative group were mainly manifested as lob-ulation sign ,spicule sign ,pleural indentation sign ,and so on .The mean maximum lesion diameter in the false positive group was (3 .23 ± 0 .59)cm ,which in the false negative group was (1 .67 ± 0 .27)cm .The SUVmax mean value in the false positive group was 10 .49 ,which in the false negative group was 5 .49 .The mean increasing rate of the SUVmax by dual-phase PET-CT in the false positive group was 38 .4% ,which in the false negative group was 17 .9% .The clinicopathologic inflammatory lesion was easy to be misdiagnosed as lung cancer ,high differentiated lung cancer and carcinoid were easy to be misdiagnosed as benign lesion .Conclusion Judging the malignant or benign lung lesions should consult in the patient′s clinical data and strengthen the comprehensice appli-cation of CT signs ,lesion size and SUVmax value .

To explore the compatibility characteristics of herbs used for nourishing yin in formulas of kidney-yang tonifica-tion.It is noticed that the appearance frequency of such herbs for yin nourishment as Radix Rehmanniae Praeparata,Rhizoma Dioscoreae,Fructus Corni and Fructus Lycii comes out on the top.Either the dosage ratio or the number of herbs of yin nour-ishment in the modern formulas for tonifying kidney yang is evidently increased than that of the ancient formulas,with the ap-plication scope being expanded.Hence,it is believed that compatibility of herbs for nourishing yin in formulas of kidney-yang tonification has become a major compatibility form in the clinical practice.When deficiency of kidney essence is obvious,the dosage of herbs for nourishing yin should be increased.While when the internal generation of deficient cold takes a dominant place,the dosage should be decreased,which is able to provide a reference for the reasonable application of formulas for kidney-yang tonification in clinical practice.

A Cleanert Alumina-N-SPE column (0.5 g/6 mL) chromatograpy with 5 mL of chloroform-methanol (7: 3) as eluent, instead of aluminum oxide column (100-200 mesh, 5 g, 1 cm) chromatograpy eluted successively with chloroform and the chloroform-methanol (7:3) (20 mL each), was applied to enrich matrine and oxymatrine in Sophora flavescens. Also, the optimization of the HPLC determination conditions with acetonitrile-ethanol absolute-3% phosphoric acid solution (84: 6: 10) as mobile phase, instead of acetonitrile-ethanol absolute -3% Phosphoric acid solution (80: 10: 10) recorded in Chinese Pharmacopoeia 2010 Edition, was more suitable for determination of matrine and oxymatrine in S. flavescens. This method has advantage of reducing sample handling time and solvent volume and increasing the accuracy and feasibility, which can simplify the procedure for determination of matrine and oxymatrine in S. flavescens.
Alkaloids ; analysis ; isolation & purification ; Chromatography, High Pressure Liquid ; methods ; Drugs, Chinese Herbal ; analysis ; isolation & purification ; Quinolizines ; analysis ; isolation & purification ; Solid Phase Extraction ; methods ; Sophora ; chemistry

OBJECTIVETo investigate the toxic effect of sodium fluoride (NaF) on the nematode Caenorhabditis elegans (C. elegans).

METHODSAdult C. elegans were exposed to different concentrations of NaF (0.038 mmol/L, 0.38 mmol/L, and 3.8 mmol/L) for 24 h. To assess the physiological effects of NaF, the brood size, life span, head thrashes, and body bend frequency were examined. Reactive oxygen species (ROS) and cell apoptosis were detected as parameters of biochemical response. The gene expressions were determined by real-time polymerase chain reaction (PCR) to assess the molecular-level response.

RESULTSAt the physiological level, the brood size of C. elegans exposed to 0.038 mmol/L, 0.38 mmol/L, and 3.8 mmol/L concentrations of NaF were reduced by 6%, 26%, and 28% respectively in comparison with the control group. The maximum life spans of C. elegans exposed to 0.038 mmol/L, 0.38 mmol/L, and 3.8 mmol/L concentrations of NaF were reduced by 3 days and 5 days, respectively. Head thrashes and body bend frequency both decreased with increasing concentrations of NaF. At the biochemical level, the production of ROS and the incidence of cell apoptosis increased with increasing concentrations of NaF (P < 0.05). At the molecular level, different concentrations of NaF exposure raised the expression of stress-related genes, such as hsp16.1, sod-3, ctl-2, dhs-28, gst-1, and cep-1.

CONCLUSIONNaF exposure could induce multiple biological toxicities to C. elegans in a concentration-dependent manner. These toxicities may be relevant to the oxidative stress induced by increased ROS production and accumulation in C. elegans.

Animals ; Base Sequence ; Caenorhabditis elegans ; drug effects ; metabolism ; DNA Primers ; Reactive Oxygen Species ; metabolism ; Real-Time Polymerase Chain Reaction ; Sodium Fluoride ; toxicity

There are growing evidences that pinocembrin has better neuroprotective effect. In the present study, the effect of pinocembrin on mitochondrial respiratory function was evaluated in global brain ischemia/ reperfusion (4-vessel occlusion, 4-VO) rats. The results showed that pinocembrin improved the respiratory activity of 4-VO brain mitochondria, through increasing ADP/O, state 3 respiration state (V3), respiration control rate index (RCI) and oxidative phosphorylation rate (OPR). And then, the effect of pinocembrin on brain mitochondria was verified in vitro. The results showed that pinocembrin increased ADP/O, state 3 respiration state, respiration control rate index, oxidative phosphorylation rate in NADH/FADH2 dependent respiratory chain and decreased state 4 respiration state (V4) in NADH dependent respiratory chain. Pinocembrin improved ATP content in brain mitochondria in vitro and in SH-SY5Y cells.
Adenosine Diphosphate ; metabolism ; Adenosine Triphosphate ; biosynthesis ; Animals ; Brain Ischemia ; pathology ; physiopathology ; Cell Line, Tumor ; Cell Respiration ; drug effects ; Flavanones ; pharmacology ; Hippocampus ; pathology ; Male ; Mitochondria ; drug effects ; physiology ; Neuroblastoma ; metabolism ; pathology ; Neurons ; drug effects ; Neuroprotective Agents ; pharmacology ; Oxygen ; metabolism ; Rats ; Rats, Sprague-Dawley

Baculoviridae ; genetics ; metabolism ; Phylogeny ; Viral Proteins ; chemistry ; classification ; genetics ; metabolism

OBJECTIVETo study the effects of various planting densities on dynamic growth and root yield of Isatis indigotica.

METHODThe planting samples were collected to measure the growth period of each organ.

RESULT AND CONCLUSIONUnder different planting densities, both main root length and breadth exhibited a trend of "fast-slow" by stages. However, the number of individual plant leaves were showed a trend of "slow-fast" on growth period. Meanwhile, the leaf length and breadth were exhibited a trend of "increase-decrease". The increase of dry leaf, dry root and whole plant dry matter was faster during the period of 65-76 days after seeding. The differences of root and leaf yields under various densities were significant. Planting densities has a great effect on yield of root. It must be shown that there was a positive development between the individual plant and colony. According to the dry matter of root and leaf, treatment B (i.e., 7 cm x 25 cm) was good choice.

Biomass ; Isatis ; growth & development ; Plant Roots ; growth & development