OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

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 report on a case of mosaicism 13q inversion duplication, analyze its mechanism, and discuss the correlation between its genotype and phenotype. METHODS: Amniotic fluid and umbilical cord blood were collected at 23 and 32 weeks of gestation, respectively. Combined with G-banding chromosome karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were used to confirm the result. RESULTS: The karyotype of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY. After careful counseling, the couple decided to continue with the pregnancy, and had given birth to a boy at 40 weeks' gestation. Except for a red plaque (hemangioma) on the nose bridge, no obvious abnormality (intelligence to be evaluated) was discovered. CONCLUSION To provide reference for clinical genetic counseling and risk assessment, the location and proportion of new centromere formation should be fully considered in the case of mosaicism 13q inversion duplication.
Amniocentesis ; Chromosome Inversion/genetics* ; Comparative Genomic Hybridization ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

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 preliminarily observe the feasibility of different immobilization techniques for total skin irradiation (TSI) using helical tomotherapy.Methods:Three eczema scrophuloderma patients treated with TSI in Sun Yat-sen University Cancer Center were immobilized with low-temperature thermoplastic in a prone position, diving suit combined with negative pressure vacuum bag in a supine position, low-temperature thermoplastic combined with vacuum bag in a supine position, respectively. Different immobilization effects were observed. The conformity index (CI) of the target area, heterogeneity index (HI) of the target area, and the mean dose (D mean) of the target area were calculated. Results:Three immobilization methods could achieve satisfactory immobilization effects, and all the dosimetric parameters of radiation treatment plans met the clinical requirements. The average set-up errors in the left and right, head and foot, and abdomen and back directions of three patients were (0.26±3.40) mm, (-2.63±4.63) mm and (6.13±4.86) mm, respectively. The CI, HI andD mean were0.56±0.09, 1.186±0.059 and (2586.56±63.28) cGy. Conclusions:Low-temperature thermoplastic or diving suits can be combined with vacuum bags for immobilization in TSI. The epidermal dose can be increased with bolus through the dose-building effect, which can provide a safe and reliable method for TSI in helical tomotherapy.

Objective:To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology.Methods:This was a retrospectively study. Newborn screening data ( n=5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data ( n=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates. The validity of the artificial intelligence disease risk prediction model was verified by 360 814 newborns ' screening data from January 2018 to September 2018 through a single-blind experiment. The effectiveness of the artificial intelligence disease risk prediction model was verified by comparing the detection rate of clinically confirmed cases, the positive rate of initial screening and the positive predictive value between the clinicians and the artificial intelligence prediction model of inherited metabolic diseases. Results:A total of 3 665 697 newborns ' screening data were collected including 3 019 cases ' positive data to establish the 16 artificial intelligence models for 32 inherited metabolic diseases. The single-blind experiment ( n=360 814) showed that 45 clinically diagnosed infants were detected by both artificial intelligence model and clinicians. A total of 2 684 cases were positive in tandem mass spectrometry screening and 1 694 cases were with high risk in artificial intelligence prediction model of inherited metabolic diseases, with the positive rates of tandem 0.74% (2 684/360 814)and 0.46% (1 694/360 814), respectively. Compared to clinicians, the positive rate of newborns was reduced by 36.89% (990/2 684) after the application of the artificial intelligence model, and the positive predictive values of clinicians and artificial intelligence prediction model of inherited metabolic diseases were 1.68% (45/2 684) and 2.66% (45/1 694) respectively. Conclusion:An accurate, fast, and the lower false positive rate auxiliary diagnosis system for neonatal inherited metabolic diseases by artificial intelligence technology has been established, which may have an important clinical value.

OBJECTIVE: To analyze the prenatal diagnosis procedure for a 45,X male fetus. METHODS: A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization. RESULTS: Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+). CONCLUSION BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.

Objective To investigate the effect of replacing a smaller-size catheter after tubularized incised plate (TIP) urethroplasty on postoperative urethral complications.Methods The data of 116 hypospadias patients underwent TIP urethroplasty performed by the same urologist in our hospital from January 2014 to December 2017 were retrospectively analyzed.The age of patients ranged from 0.5-15.4 years,with the median age of 1.5 years.Meatal location was distal in 47 (39.5％),midshaft in 62 (52.1％) and proximal in 10(8.4％) patients.Unhealthy urethral plate occurred in 49 (42.2％) patients.F8 catheter was used for urethroplasty in 92 (79.3 ％) patients,F10 in 17 (14.7％),and F12 in 7 (6.0％).According to the pattern of urinary diversion,patients were divided into two groups.Conventional catheter group in 56 patients (group A):the catheter was chosen in as large size as possible for urethroplasty without tension.Replace a smaller-size catheter group in 60 patients (group B):replace a smaller-size catheter after urethroplasty on the basis of group A.There were no statistically significant differences in age,meatal location and catheter size between the two groups (P ＞ 0.05).Results The mean follow up was 23 months (range 6-66 months).There were 73(62.9％) cases of orifice overflow during indwelling catheterization.There were 5 (4.3％) patients needed further reoperation result from postoperative urethral complications,including 4 cases of fistula and 1 case of meatal stenosis.The process of replacing a smaller-size catheter after urethroplasty in group B was simple and without adverse reactions.There were 15 (26.8％) cases of orifice overflow in group A and 58 (96.7％) in group B.There were statistically significant differences in orifice overflow between the two groups (P ＜ 0.05).There were 5 (8.9％) cases of postoperative urethral complications in group A and 0 case in group B.There were statistically significant differences in postoperative urethral complications (P ＜ 0.05).Conclusions The process of replacing a smaller-size catheter after TIP urethroplasty in was simple and subsequently contributed to less postoperative urethral complications.The results of replacing a smaller-size catheter after TIP urethroplasty were superior to that of no replacing conventionally.

Objective To review the clinical characteristics of urethral prolapse in female children and summarize our experience of treatment.Methods A retrospective analysis of the clinical characteristics of 102 patients with urethral prolapse from January 2007 to December 2017 was conducted at The Children's Hospital of Zhejiang University School of Medicine.The age of the patients ranged from 8-156 months with an median of 80 months.The presenting symptoms in the 102 girls were:bleeding in 57 patients (55.9％),mass in 31 patients (30.4％),and dysuria/urinary frequency,urgent and pain in 14 patients (13.4％).In all,58 patients were managed conservatively with Sitz baths as their masses were small,39 underwent prolapse reduction under topical anesthesia and Sitz baths because their mass were large,and 5 patients were treated by excision of the prolapsed urethral mucosa with four-quadrant excisional technique because thrombosed urethral prolapse at first visit.Results A total of 89 patients were cured after conservative treatment (87.3％),8 patients were converted to surgical treatment because frequent recurrence with conservative treatment.No urethral stricture,active hemorrhage and recurrent were found in 13 patients after operation.Conclusions The most common clinical manifestations of urethral prolapse are urethral mass and bleeding.Most patients can be cured by conservative treatment.The patients whose symptoms were severe or suffered from frequent recurrence of urethral prolapse should be managed with surgical excision.

Objective To investigate the feasibility of immature dendritic cells (imDC)phagocytized psoralen ultraviolet A (PUVA)-treated splenic lymphocytes (PUVA-SP DC)in mice inducing B lymphocytes to be regulatory B cells (Breg)with high secretion of interleukin (IL)-10 (IL-10 +Breg). Methods Bone marrow-derived DC of mice was cultured. Spleen lymphocytes of mice were isolated and treated by PUVA,and turned to be PUVA-SP. The bone marrow-derived imDC was co-cultured with PUVA-SP in vitro to obtain PUVA-SP DC. Splenic B lymphocytes of mice were separated by anti-CD19 magnetic beads and co-cultured with different kinds of DC for 48 hours. The levels of interferon (IFN )-γ,transforming growth factor (TGF)-β,IL-12p70,and IL-10 in the culture supernatant of B lymphocytes,imDC,imDC+B lymphocytes, PUVA-SP DC and PUVA-SP DC +B lymphocytes were measured by enzyme-linked immune absorbent assay (ELISA). The accounts of IL-10 +Breg in B lymphocytes,imDC+B lymphocytes,mDC+B lymphocytes and PUVA-SP DC+B lymphocytes were detected by flow cytometry. Results Compared with the other 4 groups, the level of IL-10 in cell culture supernatant of PUVA-SP DC+B lymphocytes was significantly higher (all in P<0.05). Compared with the other groups,the account of IL-10 +Breg in PUVA-SP DC+B lymphocytes was significantly higher. Conclusions PUVA-SP DC can induce splenic B lymphocytes to differentiate into IL-10 +Breg.