Objective: To analyze the clinical features, efficacy and prognosis factors of core binding factor (CBF) acute myeloid leukemia (AML) children in South China. Methods: This was a retrospective cohort study. Clinical data of 584 AML patients from 9 hospitals between January 2015 to December 2020 was collected. According to fusion gene results, all patients were divided into two groups: CBF-AML group (189 cases) and non-CBF-AML group (395 cases). CBF-AML group were divided into AML1-ETO subgroup (154 cases) and CBFβ-MYH11 subgroup (35 cases). Patients in CBF-AML group chosen different induction scheme were divided into group A (fludarabine, cytarabine, granulocyte colony stimulating factor and idarubicin (FLAG-IDA) scheme, 134 cases) and group B (daunorubicin, cytarabine and etoposide (DAE) scheme, 55 cases). Age, gender, response rate, recurrence rate, mortality, molecular genetic characteristics and other clinical data were compared between groups. Kaplan-Meier method was used for survival analysis and survival curve was drawn. Cox regression model was used to analyze prognostic factors. Results: A total of 584 AML children were diagnosed, including 346 males and 238 females. And a total of 189 children with CBF-AML were included, including 117 males and 72 females. The age of diagnosis was 7.3 (4.5,10.0)years, and the white blood cell count at initial diagnosis was 21.4 (9.7, 47.7)×10⁹/L.The complete remission rate of the first course (CR1) of induction therapy, relapse rate, and mortality of children with CBF-AML were significantly different from those in the non-CBF-AML group (91.0% (172/189) vs. 78.0% (308/395); 10.1% (19/189) vs. 18.7% (74/395); 13.2% (25/189) vs. 25.6% (101/395), all P<0.05). In children with CBF-AML, the CBFβ-MYH11 subgroup had higher initial white blood cells and lower proportion of extramedullary invasion than the AML1-ETO subgroup, with statistical significance (65.7% (23/35) vs. 14.9% (23/154), 2.9% (1/35) vs. 16.9% (26/154), both P<0.05). AML1-ETO subgroup had more additional chromosome abnormalities (75/154), especially sex chromosome loss (53/154). Compared with group B, group A had more additional chromosome abnormalities and a higher proportion of tumor reduction regimen, with statistical significance (50.0% (67/134) vs. 29.1% (16/55), 34.3% (46/134) vs. 18.2% (10/55), both P<0.05). Significant differences were found in 5-years event free survival (EFS) rate and 5-year overall survival (OS) rate between CBF-AML group and non-CBF-AML group ((77.0±6.4)%vs. (61.9±6.7)%,(83.7±9.0)%vs. (67.3±7.2)%, both P<0.05).EFS and OS rates of AML1-ETO subgroup and CBFβ-MYH11 subgroup in children with CBF-AML were not significantly different (both P>0.05). Multivariate analysis showed in the AML1-ETO subgroup, CR1 rate and high white blood cell count (≥50×10⁹/L) were independent risk factors for EFS (HR=0.24, 95%CI 0.07-0.85,HR=1.01, 95%CI 1.00-1.02, both P<0.05) and OS (HR=0.24, 95%CI 0.06-0.87; HR=1.01, 95%CI 1.00-1.02; both P<0.05). Conclusions: In CBF-AML, AML1-ETO is more common which has a higher extramedullary involvement and additional chromosome abnormalities, especially sex chromosome loss. The prognosis of AML1-ETO was similar to that of CBFβ-MYH11. The selection of induction regimen group FLAG-IDA for high white blood cell count and additional chromosome abnormality can improve the prognosis.
Male ; Female ; Humans ; Child ; Retrospective Studies ; RUNX1 Translocation Partner 1 Protein/genetics* ; Core Binding Factor Alpha 2 Subunit/therapeutic use* ; Prognosis ; Leukemia, Myeloid, Acute/genetics* ; Cytarabine/therapeutic use* ; Oncogene Proteins, Fusion/genetics* ; Chromosome Aberrations

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*

ObjectiveTo explore the effect of Anmeidan （AMD） on the learning and memory ability of sleep-deprived rats and the mechanism. MethodA total of 50 SD rats were randomized into control group， model group， low-dose AMD group （4.55 g·kg^-1·d^-1）， high-dose AMD group （18.18 g·kg^-1·d^-1）， and estazolam group （0.09 mg·kg^-1·d^-1）. Insomnia was induced in rats with the self-made sleep deprivation box （21 days）. The learning and memory ability of rats was measured by Morris water maze. Immunofluorescence method was employed to detect the number of cells expressing N-myc downstream-regulated gene 2 （NDRG2） and glial fibrillary acidic protein （GFAP） in hippocampus of rats， real-time fluorescent quantitative polymerase chain reaction （Real-time PCR） to determine the mRNA expression of hippocampal NDRG2， glial glutamate transporter-1 （GLT-1）， and GluNR2A and GluNR2B N-methyl-D-aspartate （NMDA） receptor subunits， and Western blot to examine the protein expression of NDRG2 and GLT-1 in hippocampus. ResultCompared with control group， the model group showed increase in the latency to reach the platform and total swimming distance， significant decrease in the total distance moved in the target quadrant， time in target quadrant， and times of crossing the platform （P<0.01）， rise in the number of cells expressing NDRG2 and GFAP in the hippocampal CA1 region （P<0.01） and the mRNA level of NDRG2 and GluNR2B， reduction in the mRNA level of GLT-1 and GluNR2A， elevation in NDRG2 protein expression （P<0.01）， and decrease in GLT-1 protein expression （P<0.01）. In contrast to the model group， low-dose and high-dose AMD improved the learning and memory levels of sleep-deprived rats （P<0.01）， reduced the number of cells expressing NDRG2 and GFAP （P<0.01）， significantly decreased the mRNA expression of NDRG2 and GluNR2B， increased the mRNA expression of GLT-1 and GluNR2A， reduced NDRG2 protein level （P<0.05， P<0.01）， and raised GLT-1 protein level （P<0.01）. ConclusionAMD can improve the learning and memory ability of sleep-deprived rats. The mechanism is the likelihood that it regulates astrocyte activity， thereby affecting the neurotransmitter level and synaptic plasticity in the brain.

Objective:To determine the prevalence of AIDS/HIV， sexual behavior， knowledge， and access to HIV-related services among college students in Taizhou from 2016 through 2018， and provide scientific evidence for developing targeted strategies and measures. Methods:Based on the National HIV/AIDS Sentinel Surveillance， a cross-sectional survey was conducted annually among college students in three sentinels by a multi-stage cluster sampling across Taizhou， using questionnaire and laboratory examination. Results:A total of 4 185 college students were surveyed during 2016–2018， in which the proportion of reporting sexual behavior was 7.7%， with 58.4% using condom at. Sexual behavior， with fixed sexual partners， casual partners， commercial partners， and homosexual partners accounted for 68.7%， 23%， 4.0%， and 4.0%， respectively. Sexual experience and sexual behavior with fixed partners were statistically different among colleges and gender， which was much higher in male and vocational schools. The awareness rate of HIV/AIDS knowledge was 65.8%； 3.6% was found to have HIV voluntary counseling and testing， in which 7.8% had sexual behavior， indicating an upward trend over years. No college student tested positive for HIV from 2016 to 2018， and only one tested positive for anti-syphilis antibody and one positive for anti-hepatitis C antibody. Conclusions:Young male and vocational students in Taizhou are likely to have more sexual behavior and lower awareness on HIV/AIDS. College students have at-risk sexual behavior， insufficient awareness of HIV/AIDS， which may facilitate high risk of infection. It warrants further strengthening HIV/AIDS health education.