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1.
Chinese Journal of Preventive Medicine ; (12): 259-267, 2023.
Article in Chinese | WPRIM | ID: wpr-969876

ABSTRACT

Varicella-zoster virus (VZV) causes chickenpox when it first infects humans, and the virus may reactivate in adulthood and cause herpes zoster (HZ). Broad-spectrum antiviral drugs are one of the treatments for varicella and herpes zoster, but the emergence of drug resistance poses many challenges to this treatment and increases the burden of disease on patients. This paper discusses the resistance mechanisms, resistance sites and resistance detection methods of anti-VZV drugs in order to help further research on new anti-VZV targets, new drugs and monitoring of resistance to existing drugs.


Subject(s)
Humans , Herpesvirus 3, Human , Herpes Zoster , Chickenpox , Antiviral Agents/therapeutic use , Drug Resistance
2.
Chinese Journal of Medical Genetics ; (6): 12-16, 2023.
Article in Chinese | WPRIM | ID: wpr-970869

ABSTRACT

OBJECTIVE@#To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms.@*METHODS@#A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared.@*RESULTS@#The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05).@*CONCLUSION@#No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.


Subject(s)
Humans , Mosaicism , In Situ Hybridization, Fluorescence/methods , Retrospective Studies , Karyotyping , Chromosome Aberrations , Sex Chromosome Aberrations , Karyotype , Chromosome Banding , Sex Chromosomes
3.
Chinese Journal of Medical Genetics ; (6): 1382-1386, 2023.
Article in Chinese | WPRIM | ID: wpr-1009308

ABSTRACT

OBJECTIVE@#To summarize the clinical features and biological characteristics of Helsmoortel Van der Aa syndrome (HVDAS) due to hotspot mutations of the ADNP gene in order to facilitate early diagnosis.@*METHODS@#Clinical data and result of genetic testing for a girl with HVDAS due to hotspot mutation of the ADNP gene was summarized. Related literature was also reviewed.@*RESULTS@#The patient, a 2-year-old girl, had presented with growth retardation, facial dysmorphism, psychomotor and language delay and recurrent respiratory infections. Whole exome sequencing revealed that she has harbored a heterozygous c.2496_2499delTAAA (p.Asn832Lysfs*81) variant of the ADNP gene, which was not found in either of her parents.@*CONCLUSION@#Although the typical features of the HVDAS have included intellectual disability and autism spectrum disorders, growth retardation and premature primary tooth eruption may also be present. In addition, the phenotypic difference among individuals carrying hot spot variants of the ADNP gene was not prominent.


Subject(s)
Humans , Female , Child, Preschool , Intellectual Disability/genetics , Homeodomain Proteins/genetics , Nerve Tissue Proteins/genetics , Abnormalities, Multiple/genetics , Mutation , Rare Diseases , Growth Disorders/genetics
4.
Journal of Southern Medical University ; (12): 1214-1223, 2023.
Article in Chinese | WPRIM | ID: wpr-987038

ABSTRACT

OBJECTIVE@#To propose a framework that combines sinogram interpolation with unsupervised image-to-image translation (UNIT) network to correct metal artifacts in CT images.@*METHODS@#The initially corrected CT image and the prior image without artifacts, which were considered as different elements in two different domains, were input into the image transformation network to obtain the corrected image. Verification experiments were carried out to assess the effectiveness of the proposed method using the simulation data, and PSNR and SSIM were calculated for quantitative evaluation of the performance of the method.@*RESULTS@#The experiment using the simulation data showed that the proposed method achieved better results for improving image quality as compared with other methods, and the corrected images preserved more details and structures. Compared with ADN algorithm, the proposed algorithm improved the PSNR and SSIM by 2.4449 and 0.0023 when the metal was small, by 5.9942 and 8.8388 for images with large metals, and by 8.8388 and 0.0130 when both small and large metals were present, respectively.@*CONCLUSION@#The proposed method for metal artifact correction can effectively remove metal artifacts, improve image quality, and preserve more details and structures on CT images.


Subject(s)
Artifacts , Algorithms , Computer Simulation , Tomography, X-Ray Computed
5.
Chinese Journal of Pediatrics ; (12): 435-441, 2022.
Article in Chinese | WPRIM | ID: wpr-935716

ABSTRACT

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.


Subject(s)
Child , Female , Humans , Male , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics , China/epidemiology , Cryptorchidism/genetics , Disorders of Sex Development/genetics , Genital Diseases, Male , Genotype , Hypospadias/genetics , Membrane Proteins/genetics , Penis/abnormalities , Phenotype , Retrospective Studies , Steroid 21-Hydroxylase/genetics
6.
Chinese Journal of Pediatrics ; (12): 311-316, 2022.
Article in Chinese | WPRIM | ID: wpr-935693

ABSTRACT

Objective: To investigate the relationship between body mass index (BMI) and sexual development in Chinese children. Methods: A nationwide multicenter and population-based large cross-sectional study was conducted in 13 provinces, autonomous regions and municipalities of China from January 2017 to December 2018. Data on sex, age, height, weight were collected, BMI was calculated and sexual characteristics were analyzed. The subjects were divided into four groups based on age, including ages 3-<6 years, 6-<10 years, 10-<15 years and 15-<18 years. Multiple Logistic regression models were used for evaluating the associations of BMI with sexual development in children. Dichotomous Logistic regression was used to compare the differences in the distribution of early and non-early puberty among normal weight, overweight and obese groups. Curves were drawn to analyze the relationship between the percentage of early puberty and BMI distribution in girls and boys at different Tanner stages. Results: A total of 208 179 healthy children (96 471 girls and 111 708 boys) were enrolled in this study. The OR values of B2, B3 and B4+ in overweight girls were 1.72 (95%CI: 1.56-1.89), 3.19 (95%CI: 2.86-3.57), 7.14 (95%CI: 6.33-8.05) and in obese girls were 2.05 (95%CI: 1.88-2.24), 4.98 (95%CI: 4.49-5.53), 11.21 (95%CI: 9.98-12.59), respectively; while the OR values of G2, G3, G4+ in overweight boys were 1.27 (95%CI: 1.17-1.38), 1.52 (95%CI: 1.36-1.70), 1.88 (95%CI: 1.66-2.14) and in obese boys were 1.27 (95%CI: 1.17-1.37), 1.59 (95%CI: 1.43-1.78), and 1.93 (95%CI: 1.70-2.18) (compared with normal weight Tanner 1 group,all P<0.01). Analysis in different age groups found that OR values of obese girls at B2 stage and boys at G2 stage were 2.02 (95%CI: 1.06-3.86) and 2.32 (95%CI:1.05-5.12) in preschool children aged 3-<6 years, respectively (both P<0.05). And in the age group of 6-10 years, overweight girls had a 5.45-fold risk and obese girls had a 12.54-fold risk of B3 stage compared to girls with normal BMI. Compared with normal weight children, the risk of early puberty was 2.67 times higher in overweight girls, 3.63 times higher in obese girls, and 1.22 times higher in overweight boys, 1.35 times higher in obese boys (all P<0.01). Among the children at each Tanner stages, the percentage of early puberty increased with the increase of BMI, from 5.7% (80/1 397), 16.1% (48/299), 13.8% (27/195) to 25.7% (198/769), 65.1% (209/321), 65.4% (157/240) in girls aged 8-<9, 10-<11 and 11-<12 years, and 6.6% (34/513), 18.7% (51/273), 21.6% (57/264) to 13.3% (96/722), 46.4% (140/302), 47.5% (105/221) in boys aged 9-<10, 12-<13 and 13-<14 years, respectively. Conclusions: BMI is positively correlated with sexual development in both Chinese boys and girls, and the correlation is stronger in girls. Obesity is a risk factor for precocious puberty in preschool children aged 3-<6 years, and 6-<10 years of age is a high risk period for early development in obese girls.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Body Mass Index , China/epidemiology , Cross-Sectional Studies , Obesity/epidemiology , Overweight/epidemiology , Puberty , Puberty, Precocious , Sexual Development
7.
Chinese Journal of Epidemiology ; (12): 716-721, 2022.
Article in Chinese | WPRIM | ID: wpr-935449

ABSTRACT

Objective: To assess the incidence of dengue fever and E gene evolution of dengue virus in Guangzhou in 2020 and understand the local epidemiological characteristics of dengue fever and spreading of dengue virus. Methods: The information of dengue fever cases in Guangzhou in 2020 was collected from Notifiable Infectious Disease System of Chinese Center for Disease Control and Prevention Information System. Serum samples from the cases were detected by real-time PCR. The E gene was sequenced and analyzed. Maximum likelihood phylogenetic trees were constructed using software MEGA 5.05. The statistical analysis was conducted using software SPSS 20.0. Results: A total of 33 dengue fever cases were reported in Guangzhou in 2020, including 31 (93.94%) imported cases and 2 (6.06%) local cases. Compared with the data during 2016 to 2019, the number of cases, overall incidence and local incidence all decreased with statistically significant differences (all P<0.05). The imported cases from Southeast Asia constituted 90.32% (28/31) of imported cases. The E gene sequences and the phylogenetic trees of imported and local cases demonstrated close relationship with the virus sequences from Southeast Asian, and they were less homologous with the sequences of dengue virus isolated in Guangzhou in previous years. Conclusions: The incidence of dengue in Guangzhou in 2020 was significantly affected by the imported cases, especially those from Southeast Asian countries. The study result demonstrated that dengue fever was not endemic in Guangzhou and it was caused by imported ones.


Subject(s)
Humans , China/epidemiology , Dengue/epidemiology , Dengue Virus/genetics , Disease Outbreaks , Evolution, Molecular , Genotype , Phylogeny
8.
Chinese Journal of Endocrinology and Metabolism ; (12): 306-312, 2022.
Article in Chinese | WPRIM | ID: wpr-933407

ABSTRACT

Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.

9.
Chinese Journal of Microbiology and Immunology ; (12): 791-797, 2022.
Article in Chinese | WPRIM | ID: wpr-958258

ABSTRACT

Objective:To investigate the changes of CD8 + CD28 - regulatory T cells (Treg) and its role in the pathogenesis of Kawasaki disease (KD). Methods:A total of 48 children with KD were enrolled in the present study from June 2019 to December 2021. Blood samples were collected from them during acute phage of KD and after intravenous immunoglobulin (IVIG) treatment. Another 32 age-matched healthy children were recruited as control group. The proportions of CD8 + CD28 -Treg cells and the expression of programmed cell death protein 1 (PD-1), factor associated suicide ligand (FasL), inducible T-cell co-stimulator ligand (ICOSL), CD80 and CD86 protein were evaluated by flow cytometry. The expression of Helios, perforin, granzyme B, immunoglobulin-like transcript 3 (ILT3) and ILT4 at the transcription level was measured by real-time PCR. Concentrations of IL-10 and TGF-β in the culture supernatants of CD8 + CD28 -Treg cells stimulated with activated CD4 + T cells were measured by ELISA. Results:⑴ The proportions of CD8 + CD28 -Treg cells and the expression of Helios in patients with acute KD were higher than those in the control group ( P<0.05), and reduced remarkably after IVIG therapy ( P<0.05). The two afore-mentioned indexes were lower in patients combined with coronary artery lesion (CAL) than in those without coronary artery lesion (NCAL) ( P<0.05). ⑵ Compared with the control group, the patients with acute KD showed increased expression of FasL, PD-1, ICOSL and perforin in CD8 + CD28 -Treg cells ( P<0.05). The concentrations of IL-10 and TGF-β1 in the culture supernatants of CD8 + CD28 -Treg cells from patients with acute KD were lower than those in the control group after stimulation with activated CD4 + T cells ( P<0.05), which restored to some extent after IVIG treatment ( P<0.05). All of the six above-mentioned indexes in the CAL group were found to be lower than those in the NCAL group ( P<0.05). There were slight differences in granzyme B expression between different groups ( P>0.05). (3) In comparison with the healthy controls, the patients with acute KD showed overexpressed co-stimulatory molecules such as CD80 and CD86 on CD14 + cells ( P<0.05) and up-regulated expression of inhibitory molecules ILT3 and ILT4 ( P<0.05), which were restored remarkably after IVIG treatment ( P<0.05). Furthermore, the expression of CD80 and CD86 at protein level increased in the CAL group than in the NCAL group ( P<0.05), while the expression of ILT3 and ILT4 at transcriptional level decreased in the CAL group ( P<0.05). Conclusions:Relative insufficiency and impaired function of CD8 + CD28 -Treg cells might be one of the important factors resulting in immune dysfunction and vascular damage in KD patients.

10.
Chinese Journal of Endocrinology and Metabolism ; (12): 996-1000, 2022.
Article in Chinese | WPRIM | ID: wpr-957644

ABSTRACT

We reported the first case of a boy with selenocysteine insertion sequence binding protein 2 (SECISBP2) compound heterozygous mutation in China and provide a review of literatures to improve clinicians′ understanding of the thyroid hormone metabolism defect. Clinically, for children with growth retardation and delayed motor development, thyroid hormone metabolism deficiency should be considered if the thyroid function test shows normal or slightly elevated TSH, elevated T 4 and decreased T 3.

11.
Chinese Journal of Medical Genetics ; (6): 663-666, 2021.
Article in Chinese | WPRIM | ID: wpr-888370

ABSTRACT

OBJECTIVE@#To explore gender difference in the clinical manifestations of two children with Keishi-Bukuryo-Gan syndrome (KBGS).@*METHODS@#Clinical manifestations of the two children were reviewed. Genetic testing was carried out through next generation sequencing (NGS). Treatment was summarized, and the prognosis was followed up.@*RESULTS@#Both children showed particular appearance including megatooth, abnormal hair distribution, hands' abnormality and language development delay. NGS revealed that both children have carried pathogenic variants of the ANKRD11 gene (c.1903_1907del and c.4911delT), which resulted in shifting of amino acid sequences starting from the Lysine and Proline at positions 635 and 1638, respectively. The female patient exhibited central precocious puberty. Her height has increased by 13 cm, and sex characteristics has retracted after treatment with leuprorelin for 23 months and recombinant human growth hormone for 1 month.@*CONCLUSION@#Comparison of the two cases with different genders and summary of previously reported cases found that male KBGS patients have more obvious dysmorphisms such as triangular face, synophrys, ocular hypertelorism and vertebral body abnormality, with higher morbidity of epilepsy, mental retardation, autism, congenital heart disease, immune thrombocytopenia and other complications. KBGS is an autosomal dominant disease featuring more evident peculiar appearance and global development delay. Male patients often have multi-system involvement, and multidisciplinary cooperation is required for early recognition of particular features in order to improve the prognosis.


Subject(s)
Child , Female , Humans , Male , Abnormalities, Multiple , Bone Diseases, Developmental , Facies , Intellectual Disability , Phenotype , Repressor Proteins/genetics , Sex Characteristics , Tooth Abnormalities
12.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1698-1702, 2020.
Article in Chinese | WPRIM | ID: wpr-864315

ABSTRACT

Objective:To study the molecular biological characteristics of isolates from the infection site and isolates colonizing in anterior nares of children with invasive Staphylococcus aureus (SA) infection, and to analyze the concordance between the two types of strains from different sources. Methods:A total of 45 strains were collected from children with invasive SA infection treated in the Pediatric Ward of Sichuan Provincial Maternal and Child Health Care Hospital from January 2019 to August 2019, and 28 colonization isolates were obtained from the anterior nares of these patients.The susceptibility test was carried out by broth dilution method.The drug resistance genes mecA and blaZ and the virulence gene panton-valentine leucocidin( pvl) were detected by PCR.The homology of infective and colonizing isolates was detected by pulsed-field gel electrophoresis(PFGE)typing technique. Results:Colonization of SA was found in the nasal vestibule of 62.2% (28/45 cases) of patients with invasive SA infection.A total of 40.0% (18/45 strains) of the infective isolates and 32.1% (9/28 strains) of the colonizing isolates were Methicillin-resistant SA (MRSA), and the difference was not statistically significant( P>0.05). The resistance of infective isolates to Clindamycin, Azithromycin and Erythromycin was stronger than that of colonizing isolates, the difference of drug resistance rate was statistically significant( χ2=7.114, 7.820, 5.359, all P<0.05). There were no differences in the carrying rates of the drug resistance gene blaZ and the virulence gene pvl between the infective and colonizing bacteria( P>0.05). Phenotypically, Methicillin-susceptible SA (MSSA)was more susceptible to concordant colonization than MRSA[16.7%(3/18 cases) vs.48.1%(13/27 cases), χ2=4.671, P<0.05]. PFGE indicated that patients with invasive MSSA infection were significantly more likely to have a concordant MSSA colonization isolate in their anterior nares, compared with patients with invasive MRSA infection[59.3%(16/27 strains) vs.27.8%(5/18 strains), χ2=4.301, P<0.05]. Conclusions:The infective and colonizing strains of invasive SA show no difference in their resistance to some anti-biotics, but they carry almost the same number of drug resistance and virulence genes.Compared with those with MRSA infection, patients with MSSA infection are more likely to have concordant colonizing isolates.It is of potential clinical significance to screen the colonizing SA strains in patients with invasive SA infection.

13.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1594-1597, 2020.
Article in Chinese | WPRIM | ID: wpr-864266

ABSTRACT

With the advancement of genetic testing technology, more and more patients were diagnosed with disorders of sex development (DSD) at an increasingly earlier stage.How to better improve the quality of life in patients with DSD has become an urgent problem for medical workers.The growth of children with DSD is an important factor affecting their treatment and quality of life, so it should also be concerned by the majority of medical workers.The factors affecting the growth of children with DSD and the characteristics of the growth patterns of children with common type DSD were described in this review.

14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1108-1109, 2020.
Article in Chinese | WPRIM | ID: wpr-864168

ABSTRACT

The clinical characteristics of a case of fetal alcohol syndrome (FAS) diagnosed by Shenzhen Children′s Hospital were summarized.The patient was 6 years and 4 months old, and admitted to the hospital because of her " slow growth of height for more than 6 years" . There was a history of alcohol exposure in the fetus.The infant was born with low body mass, and grew slowly in height and body mass after birth.She was diagnosed with FAS due to typical facial features of FAS, microcephalia, poor memory and narrative ability.The effect of alcohol exposure during pregnancy on fetus is permanent, and abstinence is the only way to prevent FAS.In this paper, the clinical characteristics of FAS were summarized and the literature was reviewed in order to improve the clinical understanding of the disease.

15.
International Journal of Pediatrics ; (6): 493-496, 2020.
Article in Chinese | WPRIM | ID: wpr-863007

ABSTRACT

Since the reform and opening up, a large number of migrant population have appeared in our country, which has created a special social group of migrant children; and there is no concept of migrant children based on household registration system abroad.However, there are immigrant and refugee children, and the health of migrant children is influenced by the living and/or learning environment as well as factors such as diet, guardianship and health care conditions.According to current studies at home and abroad, the health status of migrant children is lower than that of non-migrant children, so more attention and supports are needed in the areas of psychological status, social support, disease occurrence, nutrition intake, height growth, health care services, etc.Targeted measures have been formulated in the areas of psychological care, public health and medical security to improve the health status of migrant children.

16.
International Journal of Pediatrics ; (6): 279-282, 2020.
Article in Chinese | WPRIM | ID: wpr-862959

ABSTRACT

Skeletal maturation is a complex process involving the appearance of ossification centers, the width and capping of the epiphysis, and the fusion of the epiphysis.Bone age is considered to be a valuable tool in assessing children′s skeletal maturity and evaluating growth.Many factors influence the progress of skeletal maturation, which are mainly devided into endocrine and non-endocrine ones.The former include estrogen, adrenal hormone, growth hormone, and thyroid hormone.The latter contain nutrition, chronic disease, environment or diet, genetics, etc.But there is not a scientific system that has been established.Whether some factors are responsible for skeletal maturation is still controversial, such as insulin-like growth factor-1, leptin, sex hormone binding globulin, insulin and so on.This review focuses on the factors affecting skeletal maturation.It is expected to develop individualized programs in the clinical evaluation and management of children with growth and related diseases, and to provide references for further research.

17.
Chinese Journal of Endocrinology and Metabolism ; (12): 855-860, 2020.
Article in Chinese | WPRIM | ID: wpr-870108

ABSTRACT

Objective:To summarize the clinical manifestations of four patients with 46, XY disorders of sex development(46, XY DSD)due to doublesex and mab-3 related transcription factor 1(DMRT1)gene variant/haploinsufficiency, and to improve the understanding of clinicians for this disease.Methods:The medical history, physical examination, endocrine function assessment, gonadal pathology, and genetic data of 4 patients with 46, XY DSD were retrospectively collected.Results:A heterozygous new missense mutation in DMRT1 was found in one child. The chief complain was primary amenorrhoea at the age of 15 years, with the external masculinisation score(EMS)0. The DMRT1 haploinsufficiency was found in 3 cases, 1.2 Mb, 5.1 Mb, and 6.0 Mb fragments were deleted at the 9p, and one of 3 cases had 33.3 Mb repeats in the 5p. All patients visited doctor under 1 year. Two patients were raised as females, and one was raised as male. All chief complains were external genital abnormalities, EMS of them were 1, 0, and 5 respectively. Endocrine evaluation of 2 out of 4 children showed varying degrees of primary hypogonadism, and presented with complete gonadal dysgenesis. One patient showed a well function of Leydig cells and poorly function of Sertoil cells, and presented with mixed gonadal dysgenesis. One of 3 cases was diagnosed with gonadoblastoma at the age of 18 months. Patient No.4 didn′t agree with the gonadal biopsy. The chromosome karyotypes of 4 children were 46, XY.Conclusions:The visiting ages of 46, XY DSD patients caused by DMRT1 variation were older than those of patients caused by DMRT1 haploinsufficiency. The clinical manifestations are complex, and gonadal function can vary from normal to complete gonadal dysgenesis. Such patients are at high risk of gonadoblastoma and young onset. Gonadal biopsy should be performed as early as possible.

18.
Journal of China Pharmaceutical University ; (6): 481-489, 2020.
Article in Chinese | WPRIM | ID: wpr-825142

ABSTRACT

@#To investigate the freshness, high molecular weight substances, the determination of polypeptide, haemolysis and agglomeration, biological activity of Cervus and Cucumis polypeptide injection; to provide the direction for improving the quality of products for enterprises; furthermore, to provide reference for the revision of the quality standards of Cervus and Cucumis polypeptide injection. Firstly, we investigated the factors affecting the freshness of the injection, including biogenic amines, aflatoxins, the acid value and peroxide value of the melon seeds. The method of dansyl chloride pre-column derivatization-HPLC was used to determine the content of 8 biogenic amines in Cervus and Cucumis polypeptide injection. The method validation results showed good specificity, precision, linearity and recovery rates, which was suitable for the determination of biogenic amines in Cervus and Cucumis polypeptide injection. The results of sample determination showed that relatively higher concentrations of cadaverine were detected in the products from company B. The results of aflatoxins, acid value and peroxide value showed that the melon seeds from some companies had rancidity, mildew and other problems, indicating that the quality standards of multi-component biochemical drugs containing animal- and plant-derived components should be controlled in terms of freshness. Secondly, the methods for the determination of high molecular weight substances and polypeptides in the quality standard were improved. Tricine-SDS-PAGE electrophoresis was used instead of gel chromatography to determine the high molecular weight substances, which improved the accuracy of determination. The kits were used instead of folin-phenol for the determination of peptide content, which is easy to operate, specific and suitable for high-throughput sample determination. Finally, the haemolysis, agglomeration, and biological activity of Cervus and Cucumis polypeptide injection were studied. The results showed that no haemolysis and agglomeration were found in all samples, and the inhibitory effect of samples on THP-1 proliferation in vitro from different companies was different to some extent. In conclusion, the optimized quality standard is more suitable for the detection of Cervus and Cucumis polypeptide injection, and can lay the foundation for improving the safety of multi-component biochemical drugs.

19.
Chinese Journal of Medical Genetics ; (6): 815-818, 2020.
Article in Chinese | WPRIM | ID: wpr-826480

ABSTRACT

OBJECTIVE@#To summarize the clinical characteristics of two children with nonclassical 21 hydroxylase deficiency (NC-21OHD) due to variants of CYP21A2 gene promoter region.@*METHODS@#Clinical characteristics and the results of genetic testing were reviewed.@*RESULTS@#The main clinical manifestations of the two children included precocious puberty with poor bone age/progression control and menstrual disorder with hirsutism. Patient 1 had compound heterozygous variants for -126C>T, -113G>A, -110T>C and p.I173N; her mother was heterozygous for -126C>T, -113G>A and -110T>C, and her father was heterozygous for p.I173N. Patient 2 had compound heterozygous variants for -126C>T, -113G>A and p.I2G, whose mother was heterozygous for -126C>T and -113G>A, and father was heterozygous for p.I2G.@*CONCLUSION@#Diagnosis of NC-21OHD should be considered for children with hirsutism, menstrual disorder and poor bone age/progression control. The promoter region of CYP21A2 gene should be analyzed when no variant is detected in its coding regions.

20.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 96-102, 2019.
Article in Chinese | WPRIM | ID: wpr-798500

ABSTRACT

Objective:To observe the effect of Bushen Tongluo prescription on the pathogenesis of lung fibrosis induced by bleomycin and the transforming growth factor β1(TGF-β1)/Smads pathway protein in rats,and reveal the mechanism of this formula in inhibiting pulmonary fibrosis. Method:Totally 48 male SD rats were randomly divided into five groups:normal group(8 rats),model group(10 rats),high and low-dose Bushen Tongluo group(10 rats)and hydrocortisone sodium succinate group(10 rats). The model of pulmonary fibrosis was made with bleomycin except for normal group.Since day 3 after surgery,14.2,7.1 g·kg-1 Bushen Tongluo prescription were given by ig in high and low-dose Bushen Tongluo groups,and 4.58 g·kg-1 hydrocortisone sodium succinate was given by gavage(ig) in normal group and model group.All of the rats were put to death after 28 days.The contents of hydroxyproline (HYP),hyaluronic acid (HA) and laminin (LN) were measured after the death of the rats.Hematoxylin-eosin staining (HE) and Masson tricolor staining were used to observe the pathological changes of lung tissue. Real-time PCR and Western blot were used to observe the changes of mRNA and protein expressions of lung tissues TGF-β1, Smad2, Smad3, Smad7 in each group. Result:Compared with normal group, the level of pulmonary fibrosis was more significant in model group, and the serum HYP,HA and LN were increased obviously(PPβ1, Smad2,Smad3 proteins and mRNA in lung tissues were increased obviously(PPPPPβ1, Smad2, Smad3 protein and mRNA were decreased obviously(PPConclusion:Bushen Tongluo prescription can effectively improve the pathological process of pulmonary fibrosis, and the mechanism may be related to the regulation of TGF-β1/Smads pathway.

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