Objective We aimed to assess the sedative effects by intravenous injection of fentanyl on neonates with mechanical ventilation. Methods We divided 142 neonates with mechanical ventilation into the observation group (92 cases) and the control group (50 cases). The observation group received intravenous injection of fentanyl, while the control group was given no sedative medication. The pain and sedation was assessed before ventilation, 1 and 2 hours after ventilation and later every 4 hours by adoption of NPASS evaluation inventory. Results The scores of pain at different time points 2 hours after medication in the observation group were lower than those in the control group, especially 24 hours after medication. The mean airway pressure and oxygen concentration required by the observation group was lower than those of the control group. But no difference was seen in blood oxygen saturation between the two groups. Conclusions Intravenous injection of fentanyl was proper in the application of sedative treatment for neonates with mechanical ventilation. N-PASS inventory could effectively assess the pain and sedation condition and ensure the safe medication.

Objective Compare the analgesia effects of using different intervention method among neonatal infants, and then find out the most effective method. Methods Divided 120 neonatal infants into the control group, the NNS group and the position group, there were 40 cases in every group. Using the N-PASS scale evaluated the pain degree at the points of 1 and 5 minutes respectively after stimulation among the 3 groups. Results There was significant difference between the 3 groups on the pain degree,P

Objective:To investigate the uncertainty level of caregivers of children with imperforate anus, and determine the influence factors.Methods:Two hundred and twenty-nine caregivers were enrolled from three tertiary children′s hospital in Eastern China. The caregivers completed the Perception of Uncertainty Scale, Parent Stigma Scale and Social Support Scale. The demographic information of caregivers and affected children were also collected during the survey.Results:The average score of uncertainty of caregivers was (72.58±14.06) points, and multiple analysis showed that education level, the acceptance level of disease, social support and stigma were independent determinants of uncertainty ( P<0.01), and these factors could account for 26.9% of the variance. Conclusions:The caregivers of children with imperforate anus experience a high level of uncertainty, especially those with low education level, share low acceptance level of disease, receive low social support and experience higher level of stigma.

Objective:To analyze and summarize the clinical and genetic features of Noonan syndrome (NS) caused by mutations in the leucine zipper-like transcription regulator 1 ( LZTR1) gene. Methods:The retrospective study analyzed a patient who was examined at the Center of Prenatal and Hereditary Disease Diagnosis, Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University in January 2021 because of fetal nuchal translucency thickening and a previous history of problematic pregnancies. Subsequently, the patient was diagnosed with Noonan syndrome (NS) through whole exome sequencing. Using keywords such as "Noonan syndrome," "Leucine zipper-like transcription regulator 1", and " LZTR1", clinical and genetic characteristics of NS derived from LZTR1 mutations were summarized by extracting relevant literature from China National Knowledge Infrastructure, Wanfang Database, Yiigle, PubMed and Web of Science, covering from January 2013 to October 2022. Descriptive analysis was applied to the data. Results:(1) Case report: WES and Sanger sequencing showed the existence of the biallelic variants of LZTR1 gene c.842C>T and c.2248G>A in the fetus (Ⅱ-3) and the proband (Ⅱ-2) that inherited from the father and the mother, respectively. Based on the typical special facial appearance and short stature in the proband indicative of NS, the fetus and the proband were diagnosed with autosomal recessive inheritance (AR) NS. The pregnant woman terminated her pregnancy at 22 weeks due to severe edema of the fetus. At the age of three, the proband exhibited typical craniofacial features and short stature characteristics of NS when presented to our hospital. The proband received regular follow-ups in the pediatrics department of other hospitals, where recombinant human growth hormone was used to improve his height. He attended kindergarten at age four and can communicate and play with other children normally. (2) Literature review: 95 cases of NS associated with LZTR1 mutations have been retrieved and included. When including the fetus and the proband of this case, the total reached 97 cases, involving 79 different mutation sites. Forty-three cases (44.3%) were AR, and 54 (55.7%) were autosomal dominant inheritance (AD). Missense mutation was the most prevalent type of mutation, whereas nonsense mutation and frameshift mutation were more common in biallelic variants. Across all cases, the clinical manifestations encompassed multiple systems, primarily characterized by craniofacial dysmorphia, skeletal deformities, heart defects, and short stature. Developmental delay, learning disabilities, and mental retardation of varying degrees may accompany these symptoms. Eighteen cases described antenatal phenotypes, with 16 of them reporting biallelic AR variants. Ultrasound findings of 18 prenatal cases revealed 11 cases of fetal NT thickening, seven cases of cystic hygroma, four cases of fetal pericardium or pleural effusion, two cases of severe fetal edema, and 11 cases of cardiovascular defects. Conclusions:NS induced by LZTR1 mutations is an autosomal dominant or recessive inherited genetic syndrome with a broad spectrum of clinical phenotypes. The severity of the disease varies among children with the same genotype. NS should be considered when prenatal ultrasound indicates nonspecific manifestations, such as fetal NT thickening, cervical lymphatic hydrops, polyhydramnios, fetal edema, and congenital heart defects. Prenatal identification is crucial for evaluating the prognosis of children and assisting families in making clinical decisions.