Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

In order to preliminarily evaluate the efficacy and safety of endoscopic intermuscular dissection (EID) for the treatment of rectal neuroendocrine tumors (R-NETs), a retrospective observational study was conducted on 8 consecutive patients with R-NETs confirmed by postoperative pathology at South China Hospital, Medical School, Shenzhen University from January 2022 to October 2023. The therapeutic efficacy, incidence of complications, and follow-up results were mainly analyzed. The results showed that all 8 cases achieved complete resection after EID, with operation times ranging from 40 to 90 minutes. No bleeding, perforation, fever or electrocoagulation syndrome occurred after operation. The hospital stay was 4 to 6 days. During follow-up of 3 to 24 months, there was no local recurrence or metastasis. Therefore, a preliminary conclusion can be drawn that EID is a safe and feasible treatment for R-NETs.

Objective: To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality. Methods: The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis. Results: A total of 18 cases of abnormal karyotypes were detected from 85 patient samples, and the abnormal rates were 21.18%.Single cranial nervous system malformation was found in 47 cases, abnormal karyotypes in 4 cases, multiple system malformation in 38 cases, and abnormal karyotypes in 14 cases, and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84% vs.8.51%, χ²=10.101, P=0.001 5). And the 88.89%(16/18 cases)of abnormal karyotypes were founded in the early and middle pregnancy (≤28 weeks). The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular, skeletal and limb, facial neck abnormalities were 58.82% (10/17 cases), 50.00% (6/12 cases) and 50.00% (9/18 cases), respectively.In the fetal phenotypes, the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29%, followed by arachnoid cysts (50.00%), craniocerebral abnormalities (45.45%) and holoprosencephaly (36.36%). Conclusions Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system, in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest.

OBJECTIVE: To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality. METHODS: The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS). RESULTS: Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father. CONCLUSION Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.
Chromosome Disorders ; Chromosomes, Human ; Female ; Fetus ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Trisomy

Objective To study the clinical efficacy and safety of purse-string suture on the treatment of peptic ulcer bleeding. Methods Data of 42 patients with peptic ulcer bleeding treated by purse-string suture with hexiejia combined with endoloop in Dongguan Tung Wah Hospital from January 2016 to January 2017 were retrospectively analyzed. The immediate hemostasis rate, effective hemostasis rate, additional surgery rate, recurrence rate in two weeks and mortality were analyzed. Results Among 20 cases with active bleeding during operation, 19 were immediately arrested, and 1 case of failure was diagnosed as marginal ulcer after gastric resection. The overall effective hemostasis rate was 97. 6%(41/42), additional surgery rate was only 2. 4%( 1/42). The vital signs of 41 patients with successful endoscopic hemostasis were stable after operation, and no fever, hematemesis, black stool or other symptoms occurred. No recurrence of bleeding or death occurred within two weeks. The ulcers were healed well in follow-up of one month. Conclusion Endoscopic purse-string suture is a safe and feasible method for treatment of patients with peptic ulcer bleeding.

Objective To evaluate the efficacy of clinical nursing path in the application of endoscopic colon polyps resection patients. Methods Computer retrieval Chinese database to search relevant randomised controlled trials or clinical controlled trials. Two authors independently screened paper,extracted data and conducted to evaluate quality of literature,finally the meta-analysis was used by the Revman5.3 to analyze the data. Results A total of 13 articles were included. The results of Meta analysis showed that: compared with control group, the CNP group had the significant advantage of a shorter average length of hospital stay(colon polyps group:WMD=0.02,95% CI-3.14--0.91,P<0.01);colon polyps group: WMD = 2.57, 95% CI-2.77--2.36, P < 0.01), the lower average inpatient expenditure (colon polyps group: SMD = 9.98, 95% CI-14.55--5.44, P < 0.01); colon polyps group:SMD=4.57,95% CI-7.37--1.77,P<0.01),the higher nursing satisfaction(OR=5.03,95% CI 3.21-7.90,P<0.01),the higher degree of mastering knowledge(OR=5.31,95% CI 2.08-13.55,P<0.01)and the lower postoperative complications(OR=0.18,95% CI 0.06-0.55,P<0.01). Conclusions Clinical nursing pathway in patients with endoscopic colon polyps resection application effect is superior to the traditional nursing method. Because the quality of literature contained was not high, we still need more large sample,randomized controlled trials of high quality to further verification.

Objective To investigate the knowledge level among patients with ulcerative colitis, and analyze its influencing factors. Methods A total of 147 patients with ulcerative colitis were recruited by using Chinese version of inflammatory bowel disease knowledge questionnaire to assess their knowledge level. The influencing factors were explored by using general information questionnaire and self-efficacy questionnaire of inflammatory bowel disease. Results The total score of disease knowledge among patients with ulcerative colitis was (6.58 ± 1.57) points, Correct rate of disease knowledge was 28.6%; the total score of self-efficacy was (227.45 ± 32.25) points, the score index was 78.28%. The educational level, duration of disease, patients′ age and management of medical and nursing were the influencing factors of disease knowledge, which could explain 44.3% of total variation. Conclusions The knowledge level among patients with ulcerative colitis needs to be improved.Nursing staff should be based on influencing factors, pay attention to improve the knowledge level of patients with nursing intervention or health education,through a variety of ways to meet the patients need of disease knowledge, improve theirquality of life.

[ABSTRACT]AIM:Toexploretheroleofkisspeptin/GPR54signalingpathwayinthepathogenesisofprecocious puberty based on female precocious puberty rat model induced by the single dose of danazol .METHODS:Female SD rats aged 3 d were randomly divided into normal group , vehicle group and model group .On the 5th day, the model rats were given a single subcutaneous injection of danazol with ethanol and ethylene glycol mixture .All rats were executed on 15 d, 25 d, 30 d, 35 d and 40 d, and the samples were collected to observe the sexual organ development .The levels of E2 , FSH and LH in peripheral blood were measured by ELISA .The Kiss-1 mRNA expression of Kiss-1, GPR54 and GnRH in hypothalamus was detected by real-time PCR.The kisspeptin expression in rat hypothalamus was observed by immunofluo-rescence .RESULTS:The time for puberty onset and sexual maturation in the model rats was significantly earlier than that in normal group and vehicle group .On days 25 and 30, the levels of peripheral sex hormones and uterine coefficients in model group were significantly higher than those in normal group and vehicle group .On days 25 and 30, the ovarian mor-phological development in the model rats was significantly earlier than that in normal group .On day 25, the mRNA expres-sion of hypothalamic Kiss-1 and GnRH, and kisspeptin expression of hypothalamic arcuate nucleus in the model rats signifi -cantly increased compared with normal group and vehicle group .On day 30, kisspeptin expression of hypothalamic arcuate nucleus in the model rats decreased compared with normal group and vehicle group .On day 35, the mRNA expression of Kiss-1 and GnRH in the model rats decreased compared with normal group and vehicle group .The mRNA expression of GPR54 had no obvious difference among all groups .CONCLUSION:The Kiss-1 mRNA and kisspeptin expression in the model rats with precocious puberty is significantly increased in the hypothalamus during onset of puberty , suggesting that kisspeptin is an initiating factor for precocious puberty .Kisspeptin/GPR54 signaling pathway may play an important role in the occurrence of precocious puberty .

Objective To study the characteristics of auditory brainstem responses with different forward - masking intervals in newborns with normal hearing ,and to find out the most efficient interval .Methods Auditory evoked brainstem responses were recorded from 30 newborns(60 ears) ,with forward - masking intervals of 4 ms ,8 ms ,16 ms ,32 ms ,and unmasked as control .The ABR data were statistically analyzed with SPSS 13 .0 .Results With forward - masking intervals ,all waves Ⅰ ,Ⅲ ,Ⅴ latencies and Ⅰ - Ⅴ ,Ⅰ - Ⅲ ,Ⅲ - Ⅴ interpeak latencies were significantly (P< 0 .01) prolonged compared with those of in the unmasked ,except wave Ⅲ and Ⅰ - Ⅲ interpeak latencies with 4 ms forward - masking intervals .The waves from 8 ms interval were the most prolonged .Conclusion Forward masking increases human newborn ABR latencies and interpeak latencies .The interval time influenced the effect ,and 8 ms interval is the most efficient .