Objective:To investigate the characteristics of lactate dehydrogenase A (LDHA) gene expression in bone marrow mononuclear cells of children with acute myeloid leukemia (AML), and its association with clinical efficacy and prognosis, and the clinical significances.Methods:A retrospective case series study was conducted. Forty newly-treated AML (non-acute promyelocytic leukemia) children confirmed by morphology, immunology, cytogenetics, and molecular biology at the Children's Hospital Affiliated to Zhengzhou University from February 2021 to March 2022 were included in the AML group, and the pediatric patients were given induction therapy, consolidation therapy and maintenance therapy according to the Chinese Children's Leukemia Group AML-2019 protocol. Eighteen children undergoing bone marrow examination for non-hematologic diseases (iron-deficiency anemia, idiopathic thrombocytopenic purpura, etc.) during the same period served as the control group. Real-time quantitative polymerase chain reaction (qRT-PCR) was used to detect LDHA mRNA expression levels in bone marrow mononuclear cells before treatment. Patients were categorized into high and low LDHA expression groups based on the median relative expression of LDHA mRNA. LDHA mRNA levels were compared between the AML and control groups, as well as among AML patients with different treatment responses. The distribution of LDHA high or low expression patients was analyzed across clinical characteristic subgroups. Kaplan-Meier method was used for overall survival analysis of children with high and low expression of LDHA, and log-rank test was used for inter group comparison.Results:There were 26 males (65.0%) and 14 females (35.0%) in the AML group, with an age of (4.9±3.3) years; there were 9 males (50.0%) and 9 females (50.0%) in the control group, with an age of (4.2±2.8) years; there was no statistically significant difference in age and gender between the two groups (both P > 0.05). The relative expression level of LDHA mRNA before treatment in bone marrow mononuclear cells of AML patients was higher than that of the control group (4.32±1.21 vs. 1.05±0.38), and the relative expression level of LDHA mRNA before treatment in AML patients who did not improve after induction therapy (8 cases) was higher than that in AML patients who achieved complete remission (CR) after induction therapy (32 cases) (5.89±1.45 vs. 3.76±1.02), and the differences were statistically significant (both P < 0.05). The median relative expression level of LDHA mRNA in AML patients was 2.90, and 20 patients with high LDHA expression and 20 patients with low LDHA expression were classified according to this value. The proportion of AML patients with LDHA high expression in the CR after induction therapy group was lower than that in the NR group [37.5% (12/32) vs. 8/8], and the difference was statistically significant ( P = 0.003). However, there was no statistically significant difference in the proportion of patients with high LDHA expression among the subgroups of gender, age ≥ 10 years, France-America-Britain classification, white blood cell count ≥ 50×10 9, and risk stratification (all P > 0.05). Forty AML children were followed up for a median of 23 months (ranging from 6 to 36 months); 9 cases (22.5%) died, including 2 cases with LDHA low expression and 7 cases with LDHA high expression, accounting for 10.0% and 35.0% of the two groups, respectively. Kaplan-Meier survival analysis showed that the overall survival of the LDHA low expression group was better than that of the LDHA high expression group, and the difference was statistically significant ( P = 0.036). Conclusions:LDHA is highly expressed in bone marrow mononuclear cells of children with AML, and its expression level may be related to the efficacy and overall survival, which may be a potential biomarker for prognostic evaluation.

OBJECTIVE: To retrospectively analyze sex chromosomal abnormalities and clinical manifestations of children with disorders of sex development (DSD). METHODS: A total of 14 857 children with clinical features of DSD including short stature, cryptorchidism, hypospadia, buried penis and developmental delay were recruited from Zhengzhou Children's Hospital from January 2013 to March 2022. Fluorescence in situ hybridization (FISH) and chromosomal karyotyping were carried out for such children. RESULTS: In total 423 children were found to harbor sex chromosome abnormalities, which has yielded a detection rate of 2.85%. There were 327 cases (77.30%) with Turner syndrome and a 45,X karyotype or its mosaicism. Among these, 325 were females with short stature as the main clinical manifestation, 2 were males with short stature, cryptorchidism and hypospadia as the main manifestations. Sixty-two children (14.66%) had a 47,XXY karyotype or its mosaicism, and showed characteristics of Klinefelter syndrome (KS) including cryptorchidism, buried penis and hypospadia. Nineteen cases (4.49%) had sex chromosome mosaicisms (XO/XY), which included 11 females with short stature, 8 males with hypospadia, and 6 cases with cryptorchidism, buried penis, testicular torsion and hypospadia. The remainder 15 cases (3.55%) included 9 children with a XYY karyotype or mosaicisms, with main clinical manifestations including cryptorchidisms and hypospadia, 4 children with a 47,XXX karyotype and clinical manifestations including short stature and labial adhesion, 1 child with a 46,XX/46,XY karyotype and clinical manifestations including micropenis, hypospadia, syndactyly and polydactyly, and 1 case with XXXX syndrome and clinical manifestations including growth retardation. CONCLUSION Among children with DSD due to sex chromosomal abnormalities, sex chromosome characteristics consistent with Turner syndrome was most common, among which mosaicism (XO/XX) was the commonest. In terms of clinical manifestations, the females mainly featured short stature, while males mainly featured external genital abnormalities. Early diagnosis and treatment are particularly important for improving the quality of life in such children.
Humans ; Male ; Female ; Turner Syndrome/genetics* ; In Situ Hybridization, Fluorescence ; Cryptorchidism ; Hypospadias ; Retrospective Studies ; Quality of Life ; Sex Chromosome Aberrations ; Karyotyping ; Mosaicism ; Disorders of Sex Development/genetics*

AIM: To study the bioequivalence of rosuvastatin calcium tablets produced by two different manufacturers on a fasting and postprandial basis in Chinese healthy subjects. METHODS: A single-center, randomized, balanced, open, two-sequence, two-cycle, double-crossover, and single-dose trial design was used in this study. Each of the fasting group and the postprandial group was enrolled in 52 healthy subjects. Fasting/postprandial oral rosuvastatin calcium tablets 10 mg test preparation or reference preparation, the validated LC-MS/MS method was used to determine the concentration of rosuvastatin calcium tablets in plasma, and the pharmacokinetic parameters were calculated. Human bioequivalence and safety evaluation of two rosuvastatin calcium tablets were evaluated. RESULTS: The t

OBJECTIVE: To assess the value of detecting the rearrangement of mixed lineage leukemia (MLL) gene in children with acute mononuclear leukemia (AML). METHODS: Dual-color fluorescence in situ hybridization (FISH) probe was used to detect MLL gene rearrangement in 68 children with AML by interphase FISH. The results were compared with that of conventional G banding chromosomal analysis. RESULTS: Among the 68 children, 28 were detected by FISH with positive hybridization signals, with a detection rate for MLL gene rearrangement being 41.2%. Twelve (17.6%) reciprocal translocations and interruption of 11q23 were detected by G banding analysis. The difference in the detection rates between the two methods was statistically significant (P< 0.05). CONCLUSION The sensitivity of FISH assay for MLL gene rearrangement was significantly higher than that of G banding chromosomal karyotyping. Combined use of both methods for children with AML can improve the detection rate of MLL gene rearrangements and provide crucial clues for clinical diagnosis, treatment and prognosis.
Child ; Chromosomes, Human, Pair 11 ; Gene Rearrangement ; Histone-Lysine N-Methyltransferase ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Monocytic, Acute ; genetics ; Myeloid-Lymphoid Leukemia Protein ; genetics ; Translocation, Genetic

Objective: To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML). Methods: Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH), chromosomal karyotyping and multiplex reverse transcription-PCR (RT-PCR). Results: Cross signals were detected by FISH in 26 cases, and 30.2% were detected with MLL gene rearrangements. R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations, which yielded an overall detection rate of 22.1%. Multiple RT-PCR has detected 12 fusion genes produced by the MLL translocation, which yielded a detection rate of 14.0%. A significant difference was found in the detection rate of the three methods (P<0.05). Conclusion Combined use of FISH, chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis, treatment and prognosis of AML.

Objective To investigate the role of RhoA/Rho associated kinase-2 (RhoA/ROCK-2) in the development of pulmonary hypertension (PH) in patients with obstructive sleep apnea-hypopnea syndrome (OS-AHS). Methods Thirty patients diagnosed as OSAHS by polysomnograshy(PSG) test in our sleep laberatoty were recruited as the observation group, and fifteen healthy subjects matched in gender, age and body mass index (BMI) were recruited as the controls. Pulmonary arterial pressure was measured by echocardiography. Serum RhoA/ROCK-2 levels were measured. Results The level of PAP was (47.30±12.85)mm Hg in OSAHA patients complicated with PH, (22.31±3.07)mm Hg in OSAHA patients without PH, which were significantly higher than that in the controls (19.47±1.92) mm Hg (W=175.50, P < 0.05). The serum RhoA and ROCK-2 in OSAHA patients with-out PH (10.43±3.10 and 22.31±16.10 μ/L, respectively) were significantly higher those in the controls (2.94±1.20)μg/L and (6.04±0.28)μg/L, respectively) (W=120.00, W= 121.00, respectively, P<0.05), whereas significantly lower than that in OSAHA patients complicated with PH(14.85±8.49)μg/L, (36.81±12.69) μg/L, respectively) (H =29.172, H =30.242, respectively, P <0.05). There was a positive correlation between PAP and AHI in patients with OSAHS, whether complicated with PH or not(r_s=0.793, r_s=0.887,P <0.05), and there was a negative correlation between PAP and LSaO2 in patients with OSAHS (r_s=-0. 562,r_s = -0.751, P <0.05). There were positive correlations between the level of RboA/ROCK-2 and PAP in patients with OSAHS(r_s = 0.793,r_s = 0.887,P < 0.05). Finally, there was a positive correlation between the level of RhoA and ROCK-2 in patients with OSAHS (r_s = 1.000,r_s = 1.000,P < 0.05). Conclusions OSAHS is an inde-pendent risk factor for pulmonary hypertension. The levels of serum RhoA/ROCK-2 in OSAHS patients with PH were increased in the development of the disease. It may play an important role in the process of pulmonary hyper-tension in patients with OSAHS.

Objective To explore the efficacy of transurethral nephroscopic pneumatic lithotripsy combined with ultrasound lithotripsy for bladder calculus.MethodsBy using transurethral F20.8 nephroscope and EMS LithoCaster,we performed transurethral nephroscopic pneumatic lithotripsy and ultrasound lithotripsy on 69 patients with bladder calculus(63 men and 6 women)between October 2005 and May 2008.The diameter of the calculi was ranged from 1.5 to 6.0 cm.Among the patients,42 had one stone in the bladder,while 27 had multiple calculi.Fifty-five patients were complicated with BPH,14 had neurogenic bladder,and 4 showed bladder diverticulum with stones in situ.Pneumatic frequency was set at 8-12 Hz,and ultrasonic energy was 50%-60%.For the patients with BPH electrovaporization ablation was plused.ResultsAmong the 69 patients,68 were cured in one session.The mean operation time was 25 minutes(15 to 40 minutes).One patient was converted to open surgery because of rupture of the bladder during the procedure.No patient had urethral stricture,infection,or massive hemorrhage during the operation.Follow-up was available in 68 patients for 6 to 10 months(mean,9 months).During the period,no recurrent calculi was found by ultrasonography and X-ray.ConclusionTransurethral nephroscopic pneumatic lithotripsy combined with ultrasound lithotripsy is effective for bladder calculus.