[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development]. / 165ä¾‹å„¿ç«¥æ€§å‘è‚²å¼‚å¸¸ç–¾ç— çš„ä¸´åºŠã€é—ä¼ å­¦ä¸Žç— ç†å­¦åˆ†æž.

OBJECTIVES: To investigate the clinical phenotypes, genetic characteristics, and pathological features of children with disorders of sex development (DSD). METHODS: A retrospective analysis was conducted on epidemiological, clinical phenotype, chromosomal karyotype, gonadal pathology, and genotype data of 165 hospitalized children with DSD at Children's Hospital of Hebei Province and Tangshan Maternal and Child Health Hospital from August 2008 to December 2022. RESULTS: Among the 165 children with DSD, common presenting symptoms were short stature (62/165, 37.6%), clitoromegaly (33/165, 20.0%), cryptorchidism (28/165, 17.0%), hypospadias (24/165, 14.5%), and skin pigmentation abnormalities/exteriorized pigmented labia majora (19/165, 11.5%). Chromosomal karyotype analysis was performed on 127 cases, revealing 36 cases (28.3%) of 46,XX DSD, 34 cases (26.8%) of 46,XY DSD, and 57 cases (44.9%) of sex chromosome abnormalities. Among the sex chromosome abnormal karyotypes, the 45,X karyotype (11/57, 19%) and 45,X/other karyotype mosaicism (36/57, 63%) were more common. Sixteen children underwent histopathological biopsy of gonadal tissues, resulting in retrieval of 25 gonadal tissues. The gonadal tissue biopsies revealed 3 cases of testes, 3 cases of dysplastic testes, 6 cases of ovaries, 11 cases of ovotestes, and 1 case each of streak gonad and agenesis of gonads. Genetic testing identified pathogenic/likely pathogenic variants in 23 cases (23/36, 64%), including 12 cases of 21-hydroxylase deficiency congenital adrenal hyperplasia caused by CYP21A2 pathogenic variants. CONCLUSIONS: Short stature, clitoromegaly, cryptorchidism, hypospadias, and skin pigmentation abnormalities are common phenotypes in children with DSD. 45,X/other karyotype mosaicism and CYP21A2 compound heterozygous variants are major etiological factors in children with DSD. The most commonly observed gonadal histopathology in children with DSD includes ovotestes, ovaries, and testes/dysgenetic testes.

Epidemiology and Clinical Characteristics of Seasonal Human Coronaviruses in Children Hospitalized in Hebei Province, China Before and During the COVID-19 Pandemic.

Background: This study aimed to assess the impact of the COVID-19 pandemic on the prevalence and clinical characteristics of seasonal human coronavirus (HCoV) infections among children hospitalized in Hebei, China. Methods: We examined nasopharyngeal aspirate (NPA) specimens for seasonal HCoVs from January 2018 to December 2021, at the Children's Hospital of Hebei Province. We used a GeXP-based multiplex reverse transcription PCR assay for the detection of 11 common respiratory viruses (including seasonal HCoVs), chlamydia, and Mycoplasma pneumoniae. The demographic and clinical characteristics of children who tested positive for seasonal HCoVs were recorded and analyzed. Results: A total of 377 (1.96%) of the 19,248 specimens from 2018 to 2019 and 263 (1.96%) of the 13,426 specimens from 2020 to 2021 exhibited seasonal HCoVs. Compared to 2018 and 2019, the positive rate of seasonal HCoVs was lower from January to July of 2020 and increased beginning in August 2020, peaking in the autumn and winter. In 2020-2021, nasal blockage and swollen adenoids were detected more frequently in children who tested positive for seasonal HCoVs. During 2018-2019, however, the duration of fever was significantly longer, and cough and dyspnea were more prominent among children who had fallen ill. In addition, seasonal HCoV-positive patients in 2018-2019 were more likely to experience complications, had a higher risk of severe community-acquired pneumonia (CAP), and had a tendency to require a longer hospital stay than patients in 2020-2021. Conclusion: According to our findings, there were significant changes in the epidemiology of seasonal HCoVs in Hebei, China during the COVID-19 pandemic, and children infected with seasonal HCoVs usually experienced milder clinical symptoms during the pandemic than before it.

Clinical Study of Human Coronavirus NL63, OC43, 229E, HKU1 Infentions in Hospitalized Children from 2015 to 2020.

Objective: This study aims to analyze the clinical characteristics of hospitalized children infected with HCoV-NL63, OC43, 229E, HKU1 and provide the basis for disease diagnosis and treatment. Methods: A retrospective analysis was conducted on clinical manifestations, imaging data, and treatment measures of hospitalized children with positive HCoV-NL63, OC43, 229E, HKU1 from 2015 to 2020. Results: A total of 1062 children aged 33 days to 12 years were analyzed, including 879 (82.77%) between 33 days to three years. Lower respiratory tract infections were the most common in 698 children positive for HCoVs (65.72%). The incidences of runny nose, cough, pharyngeal hyperemia, and fine crackles in the mild case group (n = 894, 84.18%) were significantly higher than in the severe case group, and the differences were statistically significant (P < 0.01). The incidences of gasp, stridor, and convulsions, the proportion of underlying diseases, such as congenital heart disease, laryngomalacia, and general developmental disorders, anemia, and abnormal liver function, and mixed infections in the severe group (n = 168, 15.82%) were significantly higher than in the mild group, and the differences were statistically significant (P < 0.01 or P < 0.05). Imaging manifestations differed. Pleural effusion and atelectasis occurred in the severe cases. After treatment, patients fully recovered or improved and were discharged from the hospital. There were no deaths. Conclusion: HCoV-NL63, OC43, 229E, HKU1 infection is most common in children under three years old, and the infection site is mainly the lower respiratory tract. The main clinical manifestations include fever, cough, and runny nose. Inspiratory three concave signs, respiratory failure, and heart failure occurred in the severe cases, with pleural effusion and atelectasis possibly occurring at the same time. Severe cases should be identified early so that they may be given comprehensive treatment in time to improve the prognosis.

Study on Transformation of Ginsenosides in Different Methods.

Ginseng is a traditional Chinese medicine and has the extensive pharmacological activity. Ginsenosides are the major constituent in ginseng and have the unique biological activity and medicinal value. Ginsenosides have the good effects on antitumor, anti-inflammatory, antioxidative and inhibition of the cell apoptosis. Studies have showed that the major ginsenosides could be converted into rare ginsenosides, which played a significant role in exerting pharmacological activity. However, the contents of some rare ginsenosides are very little. So it is very important to find the effective way to translate the main ginsenosides to rare ginsenosides. In order to provide the theoretical foundation for the transformation of ginsenoside in vitro, in this paper, many methods of the transformation of ginsenoside were summarized, mainly including physical methods, chemical methods, and biotransformation methods.

Suppression of Akt1 expression by small interference RNA inhibits SGC7901 cell growth in vitro and in vivo.

The Akt/PKB kinase family, including Akt1, 2 and 3, plays critical roles in regulating cell growth, proliferation, survival, metabolic and many other cellular activities. Recent evidence indicates that PKB/Akt is frequently constitutively active in many types of human cancer including gastric cancer. In the present study, we applied immunohistochemistry to tissue microarray to detect the expression of Akt1, followed by Akt1 small interference RNA (siRNA) to examine knock down of the Akt1 gene on the growth inhibition of human gastric cancer SGC7901 cells. Our results indicate that the expression of Akt1 was significantly increased in gastric cancer compared to normal gastric tissue and adjacent non-cancer tissue. The in vitro study shows that cell growth was significantly inhibited and G0/G1 arrest was observed in siRNA-Akt1-treated group. In vivo, the size of tumors was significantly smaller in SGC7901 subcutaneous mice model treated with siRNA-Akt1 than those treated with siRNA-nonsense and PBS. Our studies demonstrated siRNA-Akt1 can inhibit Akt1 expression, exerted growth inhibition effect on SGC7901 cells in vitro and in vivo. Suppression of Akt1 expression by siRNA could be a new strategy in gastric cancer treatment.

[The relationship of MMP-9, VEGF and PCNA expressions and their clinical significance in gastric adenocarcinoma].

OBJECTIVE: To investigate abnormal protein expression of matrix metalloproteinase-9 (MMP-9), vascular endothelial growth factor (VEGF) and proliferating cell nuclear antigen (PCNA) in human gastric adenocarcinoma, and further reveal the clinical significance. METHOD: The MMP-9, VEGF and PCNA proteins expression was determined by immunohistochemistry staining in 45 gastric adenocarcinoma tissues, 45 adjacent specimens and 10 normal gastric mucosa tissues via tissue arrays accordingly. The relationship of these protein expression with differentiation degree, development and progression of gastric adenocarcinoma were also analyzed. RESULTS: Positive rates of MMP-9, VEGF and PCNA in gastric adenocarcinoma, adjacent specimens and gastric normal mucosa were as follows: MMP-9, 82.2% (37/45), 64.4% (29/45), 30.0% (3/10) (P = 0.019); VEGF, 73.3% (33/45), 62.2% (28/45), 30.0% (3/10) (P = 0.029); PCNA, 84.4% (38/45), 71.1% (32/45), 10.0% (1/10), there were statistically significant difference (P = 0.001). The positive rates of MMP-9, VEGF and PCNA in well-differentiated adenocarcinoma, moderately differentiated adenocarcinoma and poorly differentiated adenocarcinoma were as follows: MMP-9, 70.0% (7/10), 80.0% (8/10), 88.0% (22/25), there were statistically significant difference (P = 0.015); VEGF, 50.0% (5/10), 60.0% (6/10), 88.0% (22/25), there were statistically significant difference (P = 0.000); PCNA, 60.0% (6/10), 90.0% (9/10), 92.0% (23/25), the difference is significant statistically (P = 0.004). The expression of MMP-9, VEGF and PCNA showed positive relationship with each other by rank correlation analysis (P < 0.05). CONCLUSION: Tissue arrays technology is effective tool to analyze the expression of cancer related proteins in gastric adenocarcinoma. The expression of MMP-9, VEGF and PCNA proteins participates in the tumorigenesis and development process of gastric adenocarcinoma, and these can be used as indexes to evaluate prognosis in clinical.