Objective To determine whether pyloric measurements with ultrasound, that muscle thickness and channel of pyloric, correlated with weight and age in patients with hypertrophic pyloric stenosis (HPS). Methods A retrospective analysis was conducted on 111 cases diagnosed with HPS by operation from 2008 to 2012. Pearson correlation and linear regression analyses were used to determine if there were sta?tistically signiifcant associations between these combinations of factors:age and pyloric muscle thickness, weight and pyloric muscle thickness, age and pyloric length, and weight and pyloric length. Results Patients’mean age was 39.1 d (8-92 days). Their mean weight was 4.3 kg (2.2-7.9 kg). Mean pyloric muscle thickness was 4.8 mm (2-4.6 mm), and mean pyloric length was 17.5 mm (12-23.5 mm). Pearson correlation coefifcient analysis showed a signiifcant correlation between age and muscle thickness (r=0.6, P<0.001) as well as weight and muscle thickness (r=0.486, P<0.001). No signiifcant correlation was found be?tween pyloric length and age or weight. Linear regression analysis demonstrated similar results. Conclusions In patients with HPS, pyloric muscle thickness was directly related to age and weight. Smaller and younger infants with suspected diagnosis of HPS should be followed up even though the minimum diagnostic criterion for muscle thickness or length was not found on ultrasound.

Objective:To study the effect of Snyder's hope theory nursing on the scores of psychological stress, quality of life and neurological function in patients with acute hypertensive cerebral hemorrhage.Methods:From June 2017 to December 2018, 100 patients with acute hypertensive cerebral hemorrhage in the Second Affiliated Hospital of Xi′an Jiaotong University were selected as the study object. According to the random number table, the patients were divided into observation group (50 cases) and control group (50 cases).The patients in the control group were given routine rehabilitation nursing mode, and the patients in the observation group received Snyder′s hope theory nursing on the basis of the control group. The rescue time, the recovery time and the incidence of complications of the two groups were compared. The degree of anxiety and depression, neurological function, quality of life of the patients were evaluated by Self-rating Anxiety Scale(SAS), Self-rating Depression Scale(SDS), National Institutes of Health Stroke Scale(NHISS), Glasgow Coma Scale(GCS) and SF-36.Results:The rescue time and recovery time were (58.13±10.36) min, (12.7±5.3) d in the observation group, and (85.71±8.30) min, (21.1±3.3) d in the control group, and there were significant differences between the two groups ( t values were 14.691, 10.646, P < 0.05).There was no significant difference in SAS, SDS, NIHSS, GCS, SF-36 score before intervention between the two groups ( P> 0.05).The scores of SAS, NIHSS, GCS after intervention were (40.56±1.72), (11.23±2.85), (13.12±4.11) points in the observation group, and (46.56±1.62), (14.97±4.55), (11.13±3.15) points in the control group, and there were significant differences between the two groups ( t values were 17.956, 4.926, 3.212, P<0.01). There were significant differences in SF-36 after intervention between the two groups( t values were 7.124-13.014, all P<0.01). The incidence of complications was 8.0%(4/50) in the observation group, and 24.0%(12/50) in the control group, and there was significant difference between the two groups( χ2 value was 4.762, P<0.05). Conclusions:Snyder's hope theory nursing has a significant effect on the improvement of anxiety and depression in patients with acute hypertensive cerebral hemorrhage, which is worth popularizing.

Cytometry by time-of-flight (CyTOF) is an innovative single-cell analysis technique combining with mass spectrometry principles and flow cytometry. In recent years, CyTOF has been widely used in the study of leukemia treatment for its advantages of multi-parameter, high-throughput, compensation without calculation and diversified data analysis. It can accurately determine intracellular element contents and analyze the changes of unique phenotype and complex signaling pathways of leukemia cells at the single-cell level, to study the mechanism of action of anti-leukemia drugs, discover the potential therapeutic targets of leukemia, assess the therapeutic response and deeply understand the mechanism of leukemia relapse and drug resistance. This article reviews the research progress of CyTOF principle, characteristics, advantages and its application in leukemia treatment.

OBJECTIVE: To analyze the characteristics of genetic variants in 134 patients diagnosed with Acute myeloid leukemia (AML). METHODS: Clinical data of the 134 patients with AML (non-acute promyelocytic leukemia) initially diagnosed at the 940th Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army from June 2017 to June 2022 were retrospectively analyzed. Potential variants of AML-related genes were detected by next-generation sequencing, and the frequency of variants was analyzed by using SPSS v26.0 software, and likelihood ratio χ² test and Fisher exact test were used for data analysis. RESULTS: The patients had included 72 males and 62 females, with a gender ratio of 1.7 : 1 and a median age of 51 years (9 ~ 86 years old). One hundred twenty patients (76.1%) had harbored at least one genetic variant, including 26 (19.4%) having a single variant, 27 (20.1%) having two variants, and 49 (36.6%) having >= 3 variants. 32 (23.9%) had no detectable variants. Genetic variants detected in over 10% of the 134 patients had included NPM1 (n = 24, 17.91%), FLT3-ITD (n = 21, 15.67%), DNMT3A (n = 20, 14.93%), CEBPA (single variant; n = 14, 10.45%), TET2 (n = 14, 10.45%), and NRAS (n = 14, 10.45%). The patients were also divided into low risk, intermediate risk and high risk groups based on their chromosomal karyotypes. The mutational rates for genes in different groups have varied, with 19 patients from the low risk group harboring variants of NRAS (n = 4, 21.05%), KRAS (n = 4, 21.05%), and KIT (n = 2, 10.53%); and 96 patients from the intermediate risk group harboring variants of NPM1 (n = 24, 25.00%), FLT3-ITD (n = 20, 20.83%), DNMT3A (n = 18, 18.75%), CEBPA (n = 12, 12.50%), and TET2 genes (n = 12, 12.50%). The mutational frequencies for the 19 patients from the high risk group were ASXL1 (n = 7, 21.05%), NRAS (n = 3, 15.97%), TP53 (n = 3, 15.79%), and EZH2 (n = 2, 10.53%). A significant difference was found in the frequencies of KIT, NPM1, FLT3-ITD, DNMT3A, and ASXL1 gene variants among the low-risk, medium-risk, and high-risk groups. CONCLUSION AML patients have a high frequency for genetic variants, with 76.1% harboring at least one variant. The frequency of genetic variants have varied among patients with different chromosomal karyotypes, and there are apparent dominant variants. KIT, NPM1, FLT3-ITD, DNMT3A, and ASXL1 may be used as prognostic factors for evaluating their prognosis.
Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Leukemia, Myeloid, Acute/genetics* ; Leukemia, Promyelocytic, Acute ; Nuclear Proteins ; Retrospective Studies ; Child ; Adolescent ; Young Adult ; Adult ; Aged ; East Asian People

Objective:To observe the effects of acupuncture on the expression of circRNA_011989 and circRNA_009775 in the hippocampal tissue of cerebral ischemia/reperfusion injury(CIRI)rats.Methods:CIRI model rats were prepared by the thread bolus method and treated by means of acupuncture(AC).The Garcia score was used to assess the neurological function.TTC staining was used to detect the volume ratio of cerebral infarction.The target prediction website was used to predict the miRNAs and corresponding mRNAs bound by circRNA_011989 and circRNA_009775,and Cytoscape was used to construct the circRNA-miRNA-mRNA co-expression network.The expression of circRNA_011989,circRNA_009775,miR-466b-5p,miR-3065-3p,Rims1,and Slc30a3 in the hippocampal region of the ische-mic side was detected by real time RT-PCR.Results:Compared with CIRI group,Garcia score of rats in CIRI+AC group was significantly increased(P＜0.01),and the infarct volume decreased.The expressions of circRNA_011989,circRNA_009775,Rims1,and Slc30a3 in right hippocampus were up-regulated(P＜0.05,P＜0.01),but the miR-466b-5p and miR-3065-3p were down-regulated(P＜0.05).Conclusion:Acupuncture may significantly ameliorate the neurological deficit symptoms in CIRI rats by upregulating the expression of circRNA_011989 and circRNA_009775,and the specific mechanism may be related to the activation of circRNA_011989/miR-466b-5p/Rim.s1 and circRNA_009775/miR-3065-3p/Slc30a3 axis related.

Male sex differentiation is driven by 2 hormones produced by the fetal testis, testosterone and anti-Müllerian hormone(AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHR2 lead to the persistent müllerian duct syndrome(PMDS) in otherwise normally virilized 46, XY males. Further assessment was carried out when suspicion of PMDS arose from physical examination which revealed that the testis crossed to the contralateral side of the body. Further examination include ultrasound, AMH concentration, karyotype, and gene sequencing. Once PMDS is considered, there is no need to perform the gonads biopsy. The optical surgery methods include one-stage cryptorchidism and hernia curation, and at the same time.Stripping/destroying the mucosa of the retained müllerian remnants to reduce the risk of malignancy and, simultaneously, to prevent the damage to vas deference.

Objective:To explore the characteristics of abnormal chromosome karyotype of common external genital malformations in male children.Methods:A retrospective analysis of the clinical data of 2 408 children was made in outpatient or inpatient from January 2012 to December 2017. The mean age was (38±7) months. There were 1115 cases of hypospadias, 189 cases of cryptorchidism, 304 cases of micropenis, 681 cases of concealed penis and 119 cases of disorders of sex development. All children were tested for chromosome 550 band in peripheral blood, and the results of chromosome karyotype were analyzed.Results:A total of 131 cases of abnormal chromosome karyotypes were detected, with a detection rate of 5.4%, including 46 cases of chromosome number abnormalities, 85 cases of structural abnormalities, 64 cases of sex chromosome abnormalities and 67 cases of autosomal abnormalities. The karyotype of chromosome was 46, XY, inv (9) (p12q13) in 28 cases accounting for 21.4%. It was followed by 47, XXY, with 16 cases, accounting for 12.2%. The detection rate of chromosomal abnormalities in children with disorders of sex development was 12.6%(15 cases), hypospadias was 5.5%(61 cases), cryptorchidism was 5.3%(10 cases), micropenis was 4.9%(15 cases), and concealed penis was 4.4%(30 cases).Conclusions:Chromosomal abnormalities are not uncommon in male children with external genital malformations. Chromosome structural abnormalities are more common than quantitative abnormalities, and sex chromosome abnormalities account for a comparable proportion to autosomal abnormalities.

OBJECTIVE: To assess the value of fetal anteroposterior renal pelvic diameter (APD) in predicting antenatal hydronephrosis requiring surgical treatment after birth. METHODS: A total of 525 cases of antenatal hydronephrosis detected by prenatal ultrasonography (ultrasound index APD ≥ 4 mm in the second trimester and APD ≥ 7 mm in the third trimester) in Zhejiang Prenatal Diagnosis Center from June 2007 to June 2018 were retrospectively analyzed. ROC curve was used to analyze the relationship between these ultrasound indicators and the requirement for surgical treatment after birth. RESULTS: There were 162 cases (30.9%) diagnosed in the second trimester and 363 cases (69.1%) diagnosed in the third trimester; 131 cases were diagnosed pathologically after birth, of which 121 finally underwent surgical treatment. The area under ROC curve (AUC) of APD in middle pregnancy for prediction of requiring surgery 1-12 years after birth was 0.910; the cut-off value of APD was 8.45 mm with a sensitivity of 97.1%, specificity of 70.9%, positive predictive value (PPV) of 47.9%, and negative predictive value (NPV) of 98.9%. The AUC of APD in late pregnancy for prediction of requiring surgery 1-12 years after birth was 0.800; the cut-off value of APD was 12.25 mm with a sensitivity of 66.7%, specificity of 81.2%, PPV of 51.7%, and NPV of 89.1%. CONCLUSIONS APD in pregnancy can be used to predict whether the fetus with hydronephrosis needs surgical treatment after birth, and the prediction value of APD in the middle pregnancy is better.
Female ; Fetus ; diagnostic imaging ; Humans ; Hydronephrosis ; diagnostic imaging ; surgery ; Kidney Pelvis ; diagnostic imaging ; Pregnancy ; Retrospective Studies ; Ultrasonography

Objective: To explore the feasibility of gender assignment in 46,XY disorders of sex development (DSD) with severe undermasculinisation mainly based on molecular diagnosis. Methods: A retrospective study of 45 patients of 46, XY DSD with severe undermasculinisation were admitted between November 2015 and October 2018 at Children′s Hospital, Zhejiang University School of Medicine. The initial social gender were all female, of whom the external genital manifestations were Prader 0 to 2; the degree of masculinity was scored using external masculinisation score (EMS); the position and development of the gonads were examined by ultrasound, cystoscopy and laparoscopy, also including assessing the development of the Wolffian tube and the Müllerian tube. The level and ratio of testosterone to dihydrotestosterone before and after hCG stimulation were evaluated for the function of Leydig cell and 5α-reductase-2. Gender role scales and sandbox games were used to assess gender role behavior. Genital sensitivity to androgen stimulation was assessed; A panel including 163 genes related to gender development were determined by second-generation sequencing in all 45 patients. Finally, a multidisciplinary team (MDT) makes a gender assignment after a comprehensive analysis mainly based on the molecular etiological diagnosis. Results: Thirty-nine out of 45 patients (87%) had an identifiable genetic etiology, and the remaining 6 (13%) were negative for genetic testing. Forty-five patients had EMS less than or equal to 3 points. Sexual psychological assessment was performed in 39 patients, with male dominance in 24 (62%) and female dominance in 15 (38%). The gender assignment was 23 cases (51%) for male and 19 cases (42%) for female, and 3 cases (7%) were not completely determined. Conclusions Molecular diagnosis provides a strong basis for appropriate gender assignment of 46, XY DSD children with severe undermasculinisation. Based on molecular diagnosis, each DSD should be analyzed by professional MDT to analyze the clinical symptoms/signs, gonadal development, gonad tumor risk, external genital morphology, sexual psychological assessment, potential fertility opportunities, parental views, Social and cultural factors, etc. make appropriate gender assignment.