Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles.@*METHODS@#The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4).@*CONCLUSION@#The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.

Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic variants in a pedigree affected with propionic acidemia (PA).@*METHODS@#The proband was subjected to high-throughput next-generation sequencing. Suspected variants were validated by Sanger sequencing of his family members. mRNA was extracted from peripheral blood lymphocytes from the proband's father in order to verify the impact of the splicing variant by RT-PCR combined with Sanger sequencing. The pathogenicity of the missense variant was predicted by using PolyPhen-2, Mutation Taster, SIFT, COBALT and HOPE software.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the PCCB gene, namely c.184-2A>G and c.733G>A (p.G245S), which were respectively inherited from his father and mother. RT-PCR combined with Sanger sequencing confirmed skipping of exon 2 during transcription. Bioinformatic analysis indicated the c.733G>A (p.G245S) variant to be damaging.@*CONCLUSION@#The two variants of the PCCB gene probably underlay the disease in this patient. Above findings have enriched the spectrum of PCCB gene variants.

Research progress on the interplay between intestinal microecology and cognitive dysfunction / 中华老年医学杂志

Cognitive impairment can be attributed to various causes.Its main manifestations include declines in learning, memory, understanding and executive function, and may be accompanied by varying degrees of psychiatric symptoms.Dementia is characterized by progressive deterioration in multiple cognitive domains that is severe enough to interfere with daily functioning.The pathogenesis of dementia is still unclear.In addition to the mainstream Aβ amyloid cascade hypothesis, recent research increasingly points to an association of microbial dysbiosis with many brain disorders.There is a direct or indirect link between gut bacteria and the central nervous system and consequently a new concept, the gut-brain axis, has been proposed.This paper will review recent advances in research on gut microbiota and cognitive function in the past five years, aiming to provide strategies for disease prevention and treatment.

Status and impact factors of mental symptoms in schizophrenics at home in Jinshan District of Shanghai / 上海预防医学

Objective To analyze the current status of mental symptoms and related influencing factors in patients with schizophrenia, and to provide reference for helping patients achieve better home rehabilitation. Methods Cluster extraction was done of 371 home schizophrenia patients registered in the community, and follow-up surveys were carried out for general demographic data, family status, current status of the disease, and treatment status.Univariate and multivariate logistic regression analysis was used for each factor in affecting the patient′s mental symptoms. Results All of the 371 patients completed follow-up surveys, and 121 patients with positive psychotic symptoms (positive rate 32.61%).Univariate analysis showed that differences in the economic situation, course of illness(years), risk behavior level, self-knowledge, hospitalization and working status were statistically significant (P < 0.05), while differences in gender, age, education level, marital status, disease course, family history were not.And there was no significant difference in the disability identification, monitoring status, medication compliance, and free medication (P>0.05).Multivariate logistic analysis showed that complete self-knowledge(OR=0.488, 95%CI:0.284-0.838), and participation in work(OR=0.469, 95%CI:0.257-0.857) were protection factors (P < 0.05). Conclusion The service management of patients with schizophrenia at home should be strengthened, regular follow-up and nursing care mechanisms should be improved, and patients with positive mental symptoms should be actively mobilized for hospitalized treatment.Improving the patient′s self-knowledge and helping patients improve their ability to work and work is the key to preventing mental symptoms in patients with schizophrenia.

Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).@*METHODS@#Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression.@*RESULTS@#The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant.@*CONCLUSION@#The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.

Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome.@*METHODS@#Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was carried out to detect potential variants. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to carry a heterozygous c.673C>T missense variant of the Tp63 gene, which was known to underlie split-hand/split-foot malformation. The same variant was not found in either parents.@*CONCLUSION@#The heterozygous c.673C>T missense variant of the Tp63 gene probably underlies the EEC syndrome in the fetus. Above finding also expanded the phenotypic spectrum for this variant.

Correlation Analysis between Serum Complement C3，C4 Levels and LDL-C in Patients with Premature Coronary Artery Disease / 中山大学学报(医学科学版)

@#【Objective】The aim of this study was to investigate the associations between serum complement C3，C4 and low density lipoprotein cholesterol（LDL- C）levels and early- onset coronary heart disease.【Methods】We enrolled 255 cases of coronary angiography confirmed coronary artery disease from January 2018 to September 2018. All the patients were divided into early- onset coronary heart disease group（108 cases）and late- onset coronary heart disease group（147 cases）. Besides ，100 healthy subjects were enrolled and used as controls. Serum levels of C3 ，C4 and LDL-C were analyzed by automatic biochemical analyzer.【Results】Levels of serum C3，C4 and LDL-C in early-onset coronary heart disease group，late-onset coronary heart disease group and healthy control group were significantly different（P < 0.05）. In early-onset coronary heart disease group，C3 and C4 were positively correlated with LDL-C（P < 0.05）. However ，there was no significant correlation （P > 0.05） between C3 ，C4 and LDL- C in late- onset coronary heart disease group and healthy control group.【Conclusions】The levels of C3 and C4 were positively correlated with LDL-C only in the early-onset coronary heart disease patients.

Role of TXNIP-mediated oxidative stress in delaying Alzheimer's disease by estrogen / 中南大学学报(医学版)

To study the functional mechanism of thioredoxin-interacting protein (TXNIP) in delaying Alzheimer's disease (AD) by estrogen.
 Methods: After estradiol (E2) treatment in Aβ-induced AD cell model, reactive oxygen species (ROS), TXNIP, and apoptosis levels were detected. After lentiviral infection with TXNIP overexpression, the effect of E2 on ROS and apoptosis were observed. In the AD rat model, the learning and memory ability and the expression of TXNIP in the hippocampus were observed in the presence of E2. After overexpressing TXNIP, the effect of E2 on the learning and memory ability of AD rat model was observed.
 Results: ROS, TXNIP and apoptosis levels were enhanced in AD cell model, while E2 treatment reduced ROS, TXNIP and apoptosis levels in AD cell model. After enhancing TXNIP, E2 treatment reduced ROS and apoptosis levels in AD cell model. Similar to the cell experiment, E2 enhanced the learning and memory ability in the AD rat model and inhibited the expression of TXNIP in brain, while TXNIP overexpression attenuated the effect of E2 on learning and memory ability in the AD rats.
 Conclusion: Estrogen can inhibit the expression of TXNIP in nerve tissue, reduce nerve damage, and delay the development of AD.

Qualitative research on pain experiences of adult burn patients / 中华烧伤杂志

Objective@#To explore the pain experiences of adult burn patients so as to lay foundation for practical analgesic measures.@*Methods@#Using phenomenological method in qualitative research, semi-structured interviews were conducted on 12 adult burn patients hospitalized in our burn units from May to November 2015, aiming at pain experiences from immediately after burns to 3 to 7 months after being discharged from hospital. Then the Colaizzi′s analysis method was applied to analyze, induce, and refine themes of interview data.@*Results@#After analysis, pain experiences of adult burn patients were generalized into 6 themes: deep pain experiences, heavy psychological burden, limited daily life, poor assessment and treatment of pain, different attributions of pain, and different ways of coping of pain.@*Conclusions@#Burn pain brings harm to the patients′ physiology, mentality, and daily life. Nevertheless, pain processing modes of medical staff and patients themselves are the key factors affecting patients′ pain experiences. Therefore, according to the deficiency of current situation of pain management, the targeted analgesic intervention measures should be carried out from the perspectives of medical staff and patients.

Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).</p><p><b>METHODS</b>Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.</p><p><b>RESULTS</b>The neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.</p><p><b>CONCLUSION</b>The c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.</p>

Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).</p><p><b>METHODS</b>Peripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Pathogenicity of identified mutations was evaluated through genotype-phenotype correlation.</p><p><b>RESULTS</b>For pedigrees 1 and 2, pathogenic mutations were respectively identified in exon 8 (c.871C>T, p.R291X) and exon 15 (c.1601C>T, p.P534L) of the PHEX gene. For pedigree 3, a novel mutation (c.1234delA, p.S412Vfs*12) was found in exon 11 of the PHEX gene, which caused shift the reading frame and premature termination of protein translation.</p><p><b>CONCLUSION</b>The three mutations probably account for the XLH in the affected pedigrees. The discovery of novel mutations has enriched the spectrum of PHEX gene mutations.</p>

Effect of self-made female urine receiver after mixed hemorrhoid surgery / 医疗卫生装备

Objective To evaluate the effect of a self-made female urine receiver after mixed hemorrhoid surgery.Methods Totally 64 female mixed hemorrhoid patients undergoing surgery were divided into an experiment group and a control group equally.The patients in the experiment group used the self-made urine receiver,and the ones in the other group urinated with the squatting closet.Then the evaluation was executed on the pain and wet dressing during the first to fourth urination. Results The experiment group gained significant advantages over the control group in the pain and wet dressing(P<0.01). Conclusion The self-made urine receiver decreases the incidence rate of wet dressing and the pain during urination,and thus is worthy promoting in coloproctology department.

Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause for a child with developmental delay.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).</p><p><b>RESULTS</b>The karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb.</p><p><b>CONCLUSION</b>The abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.</p>

Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.</p><p><b>METHODS</b>The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.</p><p><b>RESULTS</b>The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.</p><p><b>CONCLUSION</b>The microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.</p>

Effect of oridonin on apoptosis and intracellular reactive oxygen species level in triple-negative breast cancer MDA-MB-231 cells / 中国中药杂志

Oridonin, which is an ent-kaurene diterpenoid isolated from traditional Chinese medicine Rabdosia rubescens, displays various bioactivities, including anti-inflammation, anti-bacteria and anti-tumor. This study aimed to investigate the effect of oridonin on apoptosis of triple-negative breast cancer MDA-MB-231 cells and its underlying mechanisms. The inhibitory effect of oridonin on proliferation of MDA-MB-231 cells was measured by MTT assay; Apoptosis was analyzed by flow cytometry with PI staining and Annexin V-FITC/PI staining; Intracellular reactive oxygen species (ROS) level was determined by ROS detection kit, and expressions of PARP, Bcl-2, caspase-3 were analyzed by Western blot. The results showed that oridonin exhibited a significant effect in inducing apoptosis of MDA-MB-231 cells, enhancing intracellular ROS level, down-regulating expression of Bcl-2 protein, and promoting cleavage of caspase-3 and its substrate PARP. These results indicated that the apoptosis-inducing effect of oridonin on MDA-MB-231 cells might be correlated with increase of intracellular ROS level, down-regulation of Bcl-2 protein and activation of caspase-3.

Epidemiological investigation of hospitalized children with burn injuries in a hospital of Fuzhou / 中华烧伤杂志

<p><b>OBJECTIVE</b>To analyze the epidemiological characteristics of hospitalized children with burn injuries in Fujian Medical University Union Hospital, so as to provide evidence to complete an adequate, timely, and effective prevention and treatment system of children with burn injuries.</p><p><b>METHODS</b>Medical records of children with burn injuries, aged 14 and under, hospitalized in the Department of Burns from July 2012 to June 2015 were collected. Data of gender and age, location and cause of injury, time of injury, state of injury, admission time after injury, first aid, length of hospital stay, and treatment and so on were recorded. They were divided into 4 age brackets: less than or equal to 1 year old, more than 1 year old and less than or equal to 3 years old, more than 3 years old and less than or equal to 7 years old, more than 7 years old and less than or equal to 14 years old, then gender and cause of injury of children in the 4 age brackets were analyzed. Admission months of the children were divided into spring (March to May), summer (June to August), autumn (September to November) and winter (December to February of the following year), and then the cause of injury of children in each season was analyzed. Severities of male and female children, length of hospital stay of children with different causes of injury were analyzed. Data were processed with chi-square test, Wilcoxon rank-sum test.</p><p><b>RESULTS</b>Out of 2 608 inpatients with burn injuries, 1 407 children with burn injuries, aged 14 and under, accounting for 53.9%, were admitted in the recent 3 years. The ratio of male to female was 1.6 ∶1.0. Children more than 1 year old and less than or equal to 3 years old ranked the largest number (68.3%, 961/1 407) in the 4 age brackets. There was statistically significant difference in constituent ratios of gender of children among the 4 age brackets (χ(2)=11.00, P=0.012). One thousand three hundred and seventy-two children were burned indoors (97.5%), while 35 children were burned outdoors (2.5%). Scalding with hot fluids was the most common cause of burn (95.0%, 1 337/1 407). There was statistically significant difference in constituent ratios of injury cause of children among the 4 age brackets (χ(2)=107.23, P<0.01). There was statistically significant difference in constituent ratios of injury cause of children more than 7 years old and less than or equal to 14 years old compared with those of the other 3 age brackets (with χ(2) values from 12.88 to 119.85, P values below 0.01). Most burn accidents occurred between 17: 00-20: 59 (33.5%, 472/1 407). Burns were more likely to happen in April to October. July (10.4%, 146/1 407) and August (10.5%, 148/1 407) were the crest-time. Most of the children were burned in summer (35.3%, 496/1 407). There was statistically significant difference in the injury cause of children among each season (χ(2)=14.61, P=0.024). The burn degrees of male and female children were mainly mild or moderate, and there was no statistically significant difference in the severity (Z=-0.39, P>0.05). The trunk was the most involved anatomic site (61.1%, 859/1 407). Most of children were admitted to hospital within 2 hours post burn (79.7%, 1 121/1 407). Majority of children were taken off clothes as first aid on spot or did not receive any treatment. Most of the children were discharged within 2 weeks after admission (80.0%, 1 126/1 407). There was statistically significant difference in length of hospital stay of children with causes of hot liquid scald, flame burn, electric burn, high temperature solid burn, chemical burn (χ(2) =17.33, P=0.002). Most of the children were treated with non-surgical methods, and the majority of the children got better condition or totally recovered and then discharged.</p><p><b>CONCLUSIONS</b>The majority of hospitalized children with burn injuries in our unit are young boys in preschool period, who were burnt by hot fluid at the time of dinner and bathing at home during summer. So we should make more effort on popularization of prevention about burn.</p>

Five cases of interstitial heterotopic pregnancy after IVF-ET treated by laparoscopic surgery / 中南大学学报(医学版)

To evaluate the efficency and safety of laparoscopic surgery in the treatment of interstitial heterotopic pregnancy (IHP) after IVF-ET, five patients with interstitial heterotopic pregnancy after IVF-ET treated by laparoscopy in our hospital from Jan. 2012 to Jan. 2015 were retrospectively analyzed. All operations were finished laparoscopically without any major complications and they successfully delivered. The results suggest that laparosccpic surgery is feasible and safe for IHP to maintain the trauterine pregnancy, and it can diagnose and treat IHP at early stage, which cause mininmal injuries and less disturbance to trauterine pregnancy and ensure rapid recovery.

The analysis of common mutation in deafness-associated gene in 111 neonates who failed to pass newborn hearing screening / 临床儿科杂志

Objective To explore the genetic mutation in neonates who failed to pass hearing screening.Methods A total of 111 cases of neonates who failed to pass hearing screening and were conifrmed sensorineural deafness by auditory brainstem evoked potential (ABR) were randomly selected. The heel blood was collected and DNA was extracted.GJB2, SLC26A4, and 11 mutation hotspots in mitochondria gene12SrRNA were tested. The relationship between degree of hearing loss and gene mutation was analyzed.Results In 111 neonates, mutation in deafness gene were found in 24 cases (21.6%) . Among them 14 cases (12.6%) hadGJB2 gene mutation including 5 cases of 235delC single heterozygous mutation, 5 cases of 235delC, and 1 case each of 299_300delAT compound heterozygous mutation, 235delC homozygous mutation, 299_300delAT single heterozygous mutation, 176_191del16 and 235delC compound heterozygous mutation, and 299_300delAT and 508_511dupAACG compound heterozygous mutation respectively. Ten cases (9.0%) hadSLC26A4 gene mutation including 2 cases of IVS7-2A>G single heterozygous mutation, 3 cases of 1226G>A single heterozygous mutation, 2 cases of 2168A>G single heterozygous mutation, and 3 cases of IVS7-2A>G and 2168A>G compound heterozygous mutation. Mitochondrial gene mutations were not detected. Conclusions Deafness gene mutation is detected in more than 1/5 neonates who failed to pass newborn hearing screening. GJB2 gene mutation is the most commons. The implementation of hotspots deafness gene detection can improve the diagnostic rate of deafness.

Review of nitrous oxide for analgesia and sedation and nursing implications / 中国实用护理杂志

Nitrous oxide/oxygen is one of the inhaled anesthetics that receives attention by scholars at home and abroad for its unique characteristics of excellence comparing with intravenous sedation analgesia which is more commonly used. In addition, the nurses who are the main body personnels of the pain management have certain differences in the implementation of the nitrous oxide/oxygen sedation analgesia both at home and abroad. In this paper, the nitrous oxide/oxygen analgesia and sedation and its nursing implications were reviewed from the physical and chemical properties, pharmacokinetic characteristics, excellent properties, mechanism of action and clinical application, then development directions of management in the future are put forwarded so as to provide theoretical evidences and practical guidelines for domestic medical staffs cooperating to implement the technology.

Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion / 中华医学遗传学杂志

OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.