Objective The study aimed to investigate the impact of rare earth elements(REEs)exposure on pregnancy outcomes of in vitro fertilization-embryo transfer(IVF-ET)by analyzing samples from spouses. Methods A total of 141 couples were included.Blood and follicular fluid from the wives and semen plasma from the husbands,were analyzed for REEs using inductively coupled plasma mass spectrometry(ICP-MS).Spearman's correlation coefficients and the Mann-Whitney U test were used to assess correlations and compare REE concentrations among three types of samples,respectively.Logistic models were utilized to estimate the individual REE effect on IVF-ET outcomes,while BKMR and WQS models explored the mixture of REE interaction effects on IVF-ET outcomes. Results Higher La concentration in semen(median 0.089 ng/mL,P=0.03)was associated with a lower fertilization rate.However,this effect was not observed after artificial selection intervention through intracytoplasmic sperm injection(ICSI)(P=0.27).In semen,the REEs mixture did not exhibit any significant association with clinical pregnancy. Conclusion Our study revealed a potential association between high La exposure in semen and a decline in fertilization rate,but not clinical pregnancy rate.This is the first to report REEs concentrations in follicular fluid with La,Ce,Pr,and Nd found at significantly lower concentrations than in serum,suggesting that these four REEs may not accumulate in the female reproductive system.However,at the current exposure levels,mixed REEs exposure did not exhibit reproductive toxicity.

OBJECTIVE: To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS). METHODS: A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents. RESULTS: The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c.1375C＞T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents. CONCLUSION The child was diagnosed with FSGSNEDS, for which the c.1375C＞T variant of the TRIM8 gene may be accountable.
Male ; Humans ; Child ; Child, Preschool ; DNA Copy Number Variations ; Glomerulosclerosis, Focal Segmental/genetics* ; Genomics ; Heterozygote ; Karyotyping ; Carrier Proteins ; Nerve Tissue Proteins

Objective:To summarize the experience of personalized treatment of pediatric prepuce trauma.Methods:The clinical data of children with prepuce trauma treated in the Department of Pediatric Surgery of the First Affiliated Hospital of Zhengzhou University from January 2019 to March 2021 were analyzed retrospectively. First, pediatric prepuce trauma was classified and graded before treatment, and then the treatment plans were developed with the informed consent of the children’s parents. Mild injuries were treated conservatively. In moderate injuries, in situ suture repair and frenuloplasty were performed. In severe injuries, modified circumcision and prepuce flap prepuceplasty were performed. In extremely severe injuries, composite flap (scrotal and mons pubis flap combined with prepuce flap) prepuceplasty was performed. The children were followed up for penile appearance and urinary and erectile function postoperatively.Results:A total of 36 male children, aged 6 months to 10 years, were enrolled in the study. Type of foreskin trauma: 7 cases of foreskin tie injury, 7 cases of inner plate injury, 12 cases of outer plate injury, and 10 cases of combined inner and outer plate injury; degree of foreskin trauma: 9 cases of mild injury, 6 cases of moderate injury, 19 cases of severe injury, and 2 cases of extremely severe injury. 9 of the 36 cases were treated conservatively; 4 cases were treated with in situ suture repair; 5 cases were treated with in situ suture repair + circumcision; 12 cases were treated with modified circumcision; 4 cases were treated with foreskin flap penile circumcision, and composite flaps (scrotal and mons pubis flaps as advancement flap + prepuce flap) were applied in 2 cases. All the children were followed up for 3~6 months. The appearance of the penis and scrotum was good, and the urination and erectile function were normal after treatment. The parents of the children were satisfied with the treatment results.Conclusions:For the treatment of pediatric prepuce trauma, it is necessary to comprehensively consider the location of the prepuce involved and the degree of prepuce injury and adopt an appropriate personalized treatment plan, which can achieve better results.

Objective:To summarize the experience of personalized treatment of pediatric prepuce trauma.Methods:The clinical data of children with prepuce trauma treated in the Department of Pediatric Surgery of the First Affiliated Hospital of Zhengzhou University from January 2019 to March 2021 were analyzed retrospectively. First, pediatric prepuce trauma was classified and graded before treatment, and then the treatment plans were developed with the informed consent of the children’s parents. Mild injuries were treated conservatively. In moderate injuries, in situ suture repair and frenuloplasty were performed. In severe injuries, modified circumcision and prepuce flap prepuceplasty were performed. In extremely severe injuries, composite flap (scrotal and mons pubis flap combined with prepuce flap) prepuceplasty was performed. The children were followed up for penile appearance and urinary and erectile function postoperatively.Results:A total of 36 male children, aged 6 months to 10 years, were enrolled in the study. Type of foreskin trauma: 7 cases of foreskin tie injury, 7 cases of inner plate injury, 12 cases of outer plate injury, and 10 cases of combined inner and outer plate injury; degree of foreskin trauma: 9 cases of mild injury, 6 cases of moderate injury, 19 cases of severe injury, and 2 cases of extremely severe injury. 9 of the 36 cases were treated conservatively; 4 cases were treated with in situ suture repair; 5 cases were treated with in situ suture repair + circumcision; 12 cases were treated with modified circumcision; 4 cases were treated with foreskin flap penile circumcision, and composite flaps (scrotal and mons pubis flaps as advancement flap + prepuce flap) were applied in 2 cases. All the children were followed up for 3~6 months. The appearance of the penis and scrotum was good, and the urination and erectile function were normal after treatment. The parents of the children were satisfied with the treatment results.Conclusions:For the treatment of pediatric prepuce trauma, it is necessary to comprehensively consider the location of the prepuce involved and the degree of prepuce injury and adopt an appropriate personalized treatment plan, which can achieve better results.

Consensus ; Critical Illness ; Humans ; Serum Albumin ; Serum Albumin, Human

Objective:To investigate the efficacy of robot-assisted laparoscopic surgery in heminephrectomy in children.Methods:The clinical data of 54 children with heminephrectomy in the First Affiliated Hospital of Zhengzhou University from January 2017 to December 2019 was analyzed retrospectively, of which 42 cases underwent laparoscopic heminephrectomy (LH group) and 12 cases underwent robot-assisted laparoscopic heminephrectomy (RALH group). In LH group, there were 17 males and 25 females, with an average age of (71.74±34.57)months, 29 on the left and 13 on the right. In RALH group, there were 4 males and 8 females, with an average age of (76.83±37.33) months, 9 on the left and 3 on the right. There was no significant difference in age, sex composition and deformity side between the two groups ( P > 0.05). The clinical indexes such as operation time, intraoperative blood loss, postoperative drainage time, hospital stay and postoperative complications were compared between the two groups. Results:There were significant differences in operation time[(196.48±21.92)min vs.(171.50±24.91)min], intraoperative blood loss[(34.14±8.63)ml vs.(18.50±5.92)ml], postoperative drainage time[6.0(5.0, 7.0)d vs. 4.5(3.0, 6.5)d] and postoperative hospital stay[(8.93±1.70)d vs.(7.33±1.37)d] between LH and RALH groups ( P < 0.05). During the follow-up from 3 months to 2 years, the lower kidneys of the two groups developed well and the symptoms before operation such as urinary tract infection, intermittent voiding leakage and dysuria caused by ureterocele were gradually relieved and disappeared after operation. In the LH group, 2 cases were complicated with the symptoms as ureteral stump effusion, cyst formation and recurrent ureteral stump infection after operation, which were cured after reoperation. There was no case of ureteral stump effusion and cyst formation in the RALH group. Conclusions:Robot-assisted laparoscopic heminephrectomy in children has shorter intraoperative blood loss, postoperative drainage time and hospital stay, lower incidence of postoperative complications, and has better efficacy and safety.

Objective: To investigate the echocardiographic characteristics, pathological anatomy and genetic abnormality of congenital absent semilunar valves in first trimester. Methods: Eleven cases of congenital absent semilunar valve fetus diagnosed at 11-13^{+ 6} weeks of gestation in Guangxi Magernity & Child Healthcare Hospital from December 2014 to December 2018 were analyzed. The characteristics of echocardiography and the abnormal microanatomy of cardiac tissue after labor induction was compared. Results: The crown-lump length of the 11 fetus was 46-74(62.0±9.2)mm, and nuchal translucency thickness(NT) was 2.4-10.4 (6.4±2.6)mm. The NT of 10 cases were greater than 3.0 mm. Color Doppler flow imaging revealed that biphasic bidirectional flow in the aortic arch and/or pulmonary artery at the 3VT view( "to-and-fro" ) in those 11 cases, and pansystolic turbulence and pandiastolic reflux spectrum were showed on spectral Doppler. Among them, there were 10 cases of " stealing type" , including 2 cases of isolate absent aortic valves, 3 cases of absent pulmonary valves and 5 cases of absent both aortic and pulmonary valves; and all the 10 cases had secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed that 4 cases with Trisomy 13 syndrome, 3 cases with Trisomy 18 syndrome, 1 case with 22q11.2 deletion, 1 case with 12q24.32q24.33 deletion and 1 case was normal. Pathological anatomy revealed enlarged heart in 8 cases, isolate absent aortic valves in 2 cases (1 case complicated with pulmonary atresia, absence of ductus arteriosus and thymus), absent pulmonary valves in 3 cases, absent both aortic and pulmonary valves in 3 cases, relics of semilunar valves in 3 cases. And 2 cases of absent pulmonary valves and 3 cases of absent both aortic and pulmonary valves with short and thick ductus arteriosus. Only 1 case was congenital absent semilunar valve in " non-stealing type" without secondary ultrasonic manifestations of fetal heart failure. Chromosome analysis and detection of genes showed 22q11.2 deletion, and there were relics of semilunar valves in the pathological anatomy. It also combined with tetralogy of Fallot and absence of ductus arteriosus. Conclusions In first trimester, congenital absent semilunar valves are more common as " stealing type" . The echocardiographic features of congenital absent semilunar valves are the " in-out sign" of aorta arch and/or pulmonary artery and biphasic spectrum in spectral Doppler. Trisomy 13 syndrome and trisomy 18 syndrome significantly increased the risk of congenital absent semilunar valves in " stealing type" in first trimester.