Flexible sensors have been developed as an emerging technology in recent years,among which paper-based sensors have gained wide application due to their simplicity,rapid operation,low cost,and visual readout.To clarify the current research status of paper-based sensors in drug analysis,this paper reviews the basic materials and fabrication methods of novel paper-based sensors,as well as their analytical princriples and applications in drug detection.Finally,the paper provides a perspective on the future research directions and application prospects of these sensors in forensic and drug analysis.

Flexible sensors have been developed as an emerging technology in recent years,among which paper-based sensors have gained wide application due to their simplicity,rapid operation,low cost,and visual readout.To clarify the current research status of paper-based sensors in drug analysis,this paper reviews the basic materials and fabrication methods of novel paper-based sensors,as well as their analytical princriples and applications in drug detection.Finally,the paper provides a perspective on the future research directions and application prospects of these sensors in forensic and drug analysis.

OBJECTIVE: To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS). METHODS: A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography of the fetus had shown multiple anomalies including intrauterine growth retardation, bilateral femur curvature, omphalocele, single umbilical artery, and oligohydramnios. Trio-WES revealed that the fetus has harbored hemizygous c.3562G>A (p.A1188T) missense variant of the FLNA gene. Sanger sequencing confirmed that the variant was maternally derived, whilst its father was of a wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4). CONCLUSION The hemizygous c.3562G>A (p.A1188T) variant of the FLNA gene probably underlay the structural abnormalities in this fetus. Genetic testing can facilitate accurate diagnosis of MNS and provide a basis for genetic counseling for this family.
Child ; Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Fetal Growth Retardation ; Fetus ; Filamins/genetics* ; Genetic Counseling ; Mutation ; Osteochondrodysplasias

OBJECTIVE: To determine the type and carrier rate of deafness-related variants in Dongguan, China. METHODS: A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders. For each individual, 100 variations of 18 deafness susceptibility genes were detected. RESULTS: In total 1631 deafness-related variants (including 5 homozygous mutations) were detected, which gave a detection rate of 10.08%. The detection rate of SLC26A4 gene variants was the highest (845 cases, 5.22%), which was followed by GJB2 (673 cases, 4.16%), GJB3 (100 cases, 0.62%), TMC1 (12 cases, 0.07%), and MYO15A (1 case, 0.01%). The detection rate for GJB2 c.235delC variant was the highest (524 cases, 3.24%), which was followed by SLC26A4 IVS7-2A>G variant (270 cases, 1.67%). Thirty three individuals (0.20%) carried two variants at the same time, 7 of them (0.04%) carried compound heterozygous variants of the same gene. CONCLUSION To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.
China ; DNA Mutational Analysis ; Deafness ; genetics ; Genes ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Humans ; Infant, Newborn ; Mutation ; RNA, Ribosomal

Objective To observe the expressions of NeuN and pCaMKⅡα in brain and test the spacial learning and memory in neonatal hypoxic?ischemia encephalopathy ( HIE ) model mice. Methods 7d ICR mice were randomly divided into sham group( n=19) and model group( n=23). HIE model was induced by right common carotid artery ligation followed by 8% oxygen hypoxia for 100 min. DAPI staining was used to examine brain pathological change,immunofluorescent staining was used to examine the expression of NeuN and pCaMKⅡα in the ipsilateral brain,and Morris water maze was used to test the spa?cial learning and memory. Results Mice in sham group showed that brain cells were arranged in a dense and orderly manner,the number of NeuN?positive cells and pCaMKⅡα?positive cells were (106.50±20.07), (87.17±16.55) respectively in the brain,and the escape latency was short. Compared with mice in sham group,mice in model group showed more cells loss,less NeuN?positive cells(19.17±3.60) and less pCaMKⅡα?positive cells(13.33±3.62) in the ipsilateral hemisphere,and longer escape latency(P<0.01). Conclu-sion The spacial learning and memory are impaired in hypoxia ischemia,which may be related to the de?creasing expression of pCaMKⅡα in neurons in ipsilateral brain.