1.The feasibility of clinical application of back measurement of neonates' temperature
Huilian ZHOU ; Fangyun LIU ; Weishan TANG ; Cuimei LI
Chinese Journal of Practical Nursing 2008;24(22):10-12
Objective The study aimed to discuss the scientific property and feasibility of back measurement of neonates' temperature. Methods Three measurement methods(axillary,under the jaw and the back) were adopted to measure the temperature for 100 neonates for 7,10 and 30 minutes.The tempera-ture measured by rectum for 3 minutes was set as the control. Results . Temperature by back measure-merit was not different from that measured by other methods in the same time period,P > 0.05.Temperature by back measurement for 7,10 and 30 minutes was not different from that measured by rectum for 3 min-utes,P > 0.05. Temperature by back measurement for 7,10 minutes for neonates using radiation rescue plat-form and warm case was not different from that measured by rectum,P > 0.05.Temperature measured by ax-illary and under the jaw for 30 minutes was different from that measued by rectum, P < 0.05.While temper-ature by back measurement for 30 minutes was not different from that measured by rectum,P > 0.05.Conclusions Back measurement of temperature as well as by axillary and the jaw could be used in pedi-atric department.h could accurately obtain the real temperature of neonates and was not influenced by radi-ation rescue platform and warm case.Besides,it reduced the workload of nurses and was safe,effective,simple,practical and worth applying widely in clinic.
2.Noonan syndrome in a pedigree caused by compound heterozygous mutations in leucine zipper-like transcription regulator 1 gene: prenatal diagnosis and literature review
Lijun TANG ; Siping LIU ; Huibing LIU ; Ruifeng WU ; Yushuang XU ; Weishan CHEN ; Bei JIA
Chinese Journal of Perinatal Medicine 2023;26(9):746-753
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.