This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.

Objective:To evaluate the clinical efficacy of acupuncture combined with low-frequency repetitive transcranial magnetic stimulation (rTMS) in the treatment of heart and liver fire hyperactivity syndrome in children with tic disorder; To explore its effects on the levels of serum neurotransmitters in children.Methods:A randomized controlled trial study was conducted. A total of 86 children with heart and liver fire hyperactivity syndrome of tic disorder in our hospital from March 2022 to March 2024 were selected as the observation objects and divided into 2 groups using the random number table method, with 43 cases in each group. The control group was treated with rTMS, while the observation group was treated with combined acupuncture on the basis of the control group. Both groups were treated continuously for 8 weeks. The TCM syndrome scores were conducted before and after the treatment respectively. The Yale Comprehensive Tic Severity Scale (YGTSS) was used to evaluate the severity of clinical symptoms, and the levels of serum γ -aminobutyric acid (γ-GABA), dopamine (DA), and 5-hydroxytryptamine (5-HT) were detected by ELISA. The adverse reactions during the treatment period were recorded and the clinical efficacy was evaluated.Results:The total effective rate was 90.70% (39/43) in the observation group and 72.09% (31/43) in the control group, with statistical significance ( χ2=4.91, P=0.027). After treatment, the scores of convulsion and peristalsis, flushed face and ears, irritability and anger, and red tongue with yellow coating in the observation group were lower than those in the control group ( t values were 3.80, 2.94, 3.26, and 4.22 respectively, P<0.01), and the scores of vocal tics, motor tics and the total score were lower than those in the control group (t values were 7.97, 5.23, and 6.44 respectively, P<0.01). After treatment, the level of γ-GABA in the observation group [(9.72±2.04) μg/L vs. (8.13±1.87) μg/L, t=3.77] was higher than that of the control group ( P<0.01), and DA [(8.98±1.94) μg/L vs. (12.10±2.27) μg/L, t=6.85], levels of 5-HT [(15.20±3.87) μg/L vs. (19.93±3.97) μg/L, t=5.59] were lower than those in the control group ( P<0.01). During the treatment period, the incidence of adverse reactions was 11.63% (5/43) in the observation group and 9.30% (4/43) in the control group, without statistical significance ( χ2=0.12, P=0.725). Conclusion:Acupuncture combined with rTMS can alleviate the tic symptoms of children of tic disorder with heart and liver fire hyperactivity syndrome, improve the neurotransmitter levels and main TCM syndromes of the children, enhance the clinical efficacy and have good treatment safety.

Owing to their high genetic and physiological similarities to humans,non-human primates(NHPs)have become pivotal animal models in life sciences research and biomedical development.NHP laboratory animals are not only an ideal platform for exploring the mechanisms of neurological diseases and infectious diseases,but they are also widely used in preclinical safety evaluations of macromolecular drugs,which are considered the"gold standard".Nevertheless,this biological similarity increases the risk of zoonotic disease transmission to personnel working with NHP laboratory animals,their tissues,and body fluids.In light of recent domestic and international outbreaks of zoonotic diseases as well as the implementation of the Biosafety Law,this study examines the occupational risk factors encountered by personnel working with NHPs.This includes biological,chemical,and physical factors.This paper also covers common zoonoses,classification of the corresponding pathogens,transmission routes,risk severity levels,and protocols for post-exposure management.A multidimensional prevention and control framework is proposed,which includes the following components.(1)Risk Assessment and Emergency Response:Regularly identify hazards through an Occupational Health and Safety Committee(OHSC)and develop post-exposure emergency protocols.(2)Optimization of Management Systems:Improve facility design,optimize the allocation of personal protective equipment,and enhance health surveillance and vaccination programs.(3)Technical Training and Standardized Operations:Provide specialized training in NHP laboratory animal ethology and biosafety practices.Additionally,implement intelligent monitoring technologies to reduce the occurrence of aggressive incidents.This paper outlines measures designed to enhance health and safety awareness among personnel working with NHP laboratory animals.It emphasizes the need for strengthened guidance on the use of personal protective equipment(PPE)and the standardization of professional operational practices.The goal is to safeguard personnel health and safety,reduce occupational exposure rates,and effectively prevent occupational diseases related to laboratory animals.

This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.

Owing to their high genetic and physiological similarities to humans,non-human primates(NHPs)have become pivotal animal models in life sciences research and biomedical development.NHP laboratory animals are not only an ideal platform for exploring the mechanisms of neurological diseases and infectious diseases,but they are also widely used in preclinical safety evaluations of macromolecular drugs,which are considered the"gold standard".Nevertheless,this biological similarity increases the risk of zoonotic disease transmission to personnel working with NHP laboratory animals,their tissues,and body fluids.In light of recent domestic and international outbreaks of zoonotic diseases as well as the implementation of the Biosafety Law,this study examines the occupational risk factors encountered by personnel working with NHPs.This includes biological,chemical,and physical factors.This paper also covers common zoonoses,classification of the corresponding pathogens,transmission routes,risk severity levels,and protocols for post-exposure management.A multidimensional prevention and control framework is proposed,which includes the following components.(1)Risk Assessment and Emergency Response:Regularly identify hazards through an Occupational Health and Safety Committee(OHSC)and develop post-exposure emergency protocols.(2)Optimization of Management Systems:Improve facility design,optimize the allocation of personal protective equipment,and enhance health surveillance and vaccination programs.(3)Technical Training and Standardized Operations:Provide specialized training in NHP laboratory animal ethology and biosafety practices.Additionally,implement intelligent monitoring technologies to reduce the occurrence of aggressive incidents.This paper outlines measures designed to enhance health and safety awareness among personnel working with NHP laboratory animals.It emphasizes the need for strengthened guidance on the use of personal protective equipment(PPE)and the standardization of professional operational practices.The goal is to safeguard personnel health and safety,reduce occupational exposure rates,and effectively prevent occupational diseases related to laboratory animals.

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

OBJECTIVE: To analyze the prenatal diagnosis procedure for a 45,X male fetus. METHODS: A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization. RESULTS: Combined analyses revealed that the whole of Yp has translocated to 21p, which yielded a fetal karyotype of 45,X,dic(Y;21)(q11;p11).ishdic(Y;21)(SRY+,CEPY+;CEP21+). CONCLUSION BoBs and modified N-banding method are helpful for the diagnosis of 45,X male fetus with Yp translocation.

OBJECTIVE: To explore the value of BACs-on-Beads (BoBs) for the practice of prenatal diagnosis. METHODS: The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared. Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis (CMA) with informed consent from patients. RESULTS: BoBs has detected 46 cases of common aneuploidies involving chromosomes 13, 18, and 21, and 16 cases involving X and Y chromosomes. For 4 fetuses with normal results by BoBs, karyotyping analysis of amniotic fluid sample suggested low percentage mosaicisms (< 20%). BoBs has detected none of the 9 common microdeletions, but 14 male fetuses with Xp22 microdeletions and 5 with other microdeletions/microduplications. In 10 cases, the couples had chosen CMA verification, and the results were all consistent. CONCLUSION As a rapid diagnostic technique, BoBs has a high accuracy for common aneuploidies, and is capable of discovering certain chromosome microdeletions and microduplications. The difficulty lies in the inability to detect low proportion mosaicisms and the consultation following detection for male fetuses carrying Xp22 microdeletions.

Objective:To explore the effects of the intervention program for intestinal dysfunction after spinal cord injury during the acute spinal cord injury period.Methods:Totally 76 patients with intestinal dysfunction during acute spinal cord injury who were admitted into Shanghai Sixth People's Hospital and Shanghai Changzheng Hospital between March and December 2019 were selected by convenient sampling. According to the non-concomitant controlled study design, 42 patients admitted from March to May 2019 were included into the control group, while 34 patients admitted from October to December 2019 were included into the intervention group. Patients in the control group received routine care, while the intervention program for intestinal dysfunction after spinal cord injury was adopted for patients in the intervention group. After 2 weeks of intervention, the intestinal function indicators were compared between the two groups.Results:After 2 weeks of intervention, the improvement of abdominal distension and constipation of the intervention group was better than that of the control group, and the difference was statistically significant ( P< 0.05) . Conclusions:The intervention program for intestinal dysfunction during acute spinal cord injury can effectively improve the intestinal function of patients and reduce the incidence of abdominal distension and constipation.