Abstract: Objective　To investigate the infection of Anisakis in marine fish sold in Fuxin, and conduct molecular identification and evolutionary tracing of third-stage larvae to determine Anisakis species. Methods　From 2018 to 2021, marine fish sold in the market were collected randomly, and the third stage larvae of Anisakis were detected in marine fish sold in the market by direct dissection, and the morphological characteristics were used to preliminarily identify species by microscopy; the total DNA was extracted, the internal transcribed spacer sequence of the ribosomal DNA of Anisakis was amplified, and the sequence alignment and evolution analysis were carried out. Results　A total of 289 market-sold sea fish samples of marine fish sold in the market were dissected and 84 samples of Anisakis were detected with a detection rate of 29.1%, of which the infection rates of hairtail and small yellow croaker were higher, at 41.4% and 41.2%, respectively. BLAST comparison of 28 sequences revealed eight species of anisakids, including Anisakis pegreffii, Anisakis simplex, Anisakis typical, Raphidascaris trichiurid, Contracaecum muraenesoxi, Hysterothylcaium zhoushanensis, Hysterothylacium amoyense and Hysterothylcaium fabri,belonging to the genera Anisakis and Hysterothylacium. The phylogenetic tree constructed from 28 sequences generally formed two topological branches, with Anisakis pegreffii, Anisakis simplex, and Anisakis typical forming three separate clusters as the topology branch of Anisakis genus. However, meanwhile, Hysterothylacium, Contracaecum, and Raphidascaris formed a separate topological branch. Conclusions　The marine fish sold in Fuxin City have severe anisakid infection, with a wide variety of anisakid species, the dominant species being Anisakis pegreffii.

Objective To observe the change in cardiac shape and heart function and evaluate the effect of self-treatment on patients with Keshan disease by echocardiography. Methods To check the 31 patients with Keshan disease before the self-treatment, and follow them up in the 3rd and 6th months after self-treatment by echocardiography. The left atrium diameter(LAd), left ventricular end-diastolic diameter(LVEDd), the thickness of interventricular septum in end-diastolic(IVSTd), the thickness of LV posterior wall in end-diastolic (LVPWTd), left ventricular mass(LVM), left ventricular mass index(LVMI), left ventricular ejection fraction(LVEF) and mitral valve flow E/A ratio(E/A) were measured. Results The LAd[(35.8±5.1)ram] and LVPWTd[(9.3±1.0)mm] obviously decreased in the 3rd month after serf-treatment compared with prior self-treatment [ (37.0±5.0), (9.9± 1.2)mm](P<0.05). The LAd[(34.5±5.0)mini, IVSTd[(9.5±1.3)mm], LVEDd[(50.2±7.7)mm], LVPWTd [(8.7±1.1)mm], LVM[(196.1±87.2)g] and LVMl[(126.5±56.4)g/m2] obviously decreased in the 6th month after self-treatment compared with prior self-treatment [(37.0±5.0), (10.2±1.5), (51.3±8.1), (9.9±1.2)mm, (230.4±95.5)g, (144.0±54.6)g/m2] and in the 3rd month after self-treatment [(35.8±5.1)mm, (10.2±1.4) ram, (51.1±8.1)nun, (9.3±1.0)mm, (219.4±82.5)g, (136.8±50.0)g/m2] (P<0.05). The results of the mitral valve flow E/A ratio and LVEF in the 3nt month after self-treatment [1.0±0.5, (59.4±13.3)%] were increased compared with the prior self-treatment[0.9±0.5, (58.1±15.6)%], and the results in the 6th month after self-treat- ment[ 1.0±0.4, (60.7±13.6)%] were further inereased compared with before, but there was no signifieant differ- ence(P0.05). Conclusions Self-treatment of Keshan disease patients can improve the heart function by pre- venting left ventrieular remodeling and reversing. Echocardiography can be used as an essential technique to evalu- ate the effect of self-treatment on Keshan disease patients.

The largest microbial community of the human microbiome is located in the digestive tract and performs vital functions. The changes in the composition and function of intestinal microflora can influence the occurrence, development and prognosis of intestinal diseases. Diarrhea, irritable bowel syndrome( IBS) and inflammatory bowel diseases( IBD) are common intestinal diseases, and the relationship between them and intestinal microflora has at-tracted more and more attention.

OBJECTIVE: To explore the clinical and genetic features of a child with primary ciliary dyskinesia. METHODS: Genomic DNA of the child and her parents was extracted and subjected to targeted gene capture and next generation sequencing. Suspected mutation was verified by Sanger sequencing, with its nature and impact predicted by Bioinformatic analysis. RESULTS: Clinical manifestations of the child mainly included severe pneumonia, bronchiectasia, nasosinusitis and pneumothorax. DNA sequencing showed that she has carried compound heterozygous mutations of the CCNO gene, namely c.848T>C (p.L283P) and c.262_263 insGGCCCGGCCC (p.Q88Rfs*51), which were respectively inherited from her mother and father. CONCLUSION The child was diagnosed with primary ciliary dyskinesia caused by the compound heterozygous mutations of the CCNO gene.
Base Sequence ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Kartagener Syndrome ; genetics ; Male ; Mutation ; Sequence Analysis, DNA

OBJECTIVE: To correlate genotype with clinical phenotype of a child featuring multiple congenital malformations. METHODS: Clinical examination of the patient was carried out. Chromosome microarray analysis (CMA) was employed to detect genomic copy number variations (CNVs), and quantitative PCR (qPCR) was used for verifying the result. RESULTS: The child had congenital heart disease (ventricular septal defect, atrial septal defect, pulmonary arterial hypertension, and tricuspid regurgitation), psychomotor retardation, agenesis of corpus callosum, hypospadias and scoliosis. CMA has detected a 1.8 Mb deletion at 7p22.3, a 1.8 Mb duplication at 7p22.3p22.2 and a 23.5 Mb duplication at 7q33q36.3 in the fetus, all of which were de novo in origin. CONCLUSION CMA can precisely detect microdeletion/duplications and facilitate the genotype-phenotype correlation analysis.
Abnormalities, Multiple ; genetics ; Child ; Chromosomes, Human, Pair 7 ; genetics ; DNA Copy Number Variations ; Genetic Testing ; Heart Defects, Congenital ; genetics ; Humans ; Male ; Phenotype ; Sequence Deletion

OBJECTIVETo summarize the prevention and treatment experience of deep vein thrombosis in patients with abdominal tumors after standardized resection and lymph node dissection, and to investigate a standard therapeutic measure of thrombosis prevention in these patients.

METHODSThe clinical data of 548 patients who received radical operation and standardized lymph node dissection for abdominal tumors from January 2007 to April 2010 were analyzed retrospectively. According to different therapeutic scheme and time, the patients were divided into three groups: Group 1 included 163 cases from January 2007 to March 2008 were treated with compound Danshen injection 0.2 g and low molecular weight dextran 500 ml on the same day of surgery for 7 days; Group 2 included 149 cases from April 2008 to March 2009 were treated with the same regimen as that in Group 1 plus low molecular heparin 40 mg on the same day of surgery for 7 days; Group 3 included 236 cases from April 2009 to April 2010 were treated with the same regimen as that in Group 1 plus low molecular heparin on the third day of surgery for 7 days. The treatment effects and the complications in the three groups were analyzed and compared.

RESULTSSixty-four (39.3%) cases were D-Dimer positive and 15 (9.2%) cases were DVT positive under color Doppler ultrasound examination in Group 1; and those were 38 (25.5%) and 3 (2.0%) in Group 2; and 62 (26.3%) and 6(2.5%) in Group 3. Overall observation, the incidences of thrombosis in Group 2 and 3 were obviously lower than that of Group 1, but there was no significant difference between Group 2 and 3. Earlier use of low molecular heparin would lead to some complications.

CONCLUSIONSIt brings better effects in thrombosis prevention by using compound Danshen injection and low molecular weight dextran on the day of surgery, with low molecular heparin on the third day of surgery.

Abdominal Neoplasms ; surgery ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Postoperative Complications ; prevention & control ; Retrospective Studies ; Venous Thrombosis ; etiology ; prevention & control ; therapy

Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM). Searching was done using "KCNB1" as a keyword. Result: A 3.5 years old boy who visited our hospital firstly at the age of 2 years because of development delay came for follow up as he developed seizures.The forms included tonic, clonic seizures and spasm. The condition became more severe 10 months later. Electroencephalogram(EEG) showed high frequency discharge (>85%). He had poor response to multiple anti-epileptic drugs, methylprednisolone and ketogenic diet. At the age of 3, he started to have mental regression. Whole exome-sequencing study (trios) identified a novel heterozygous mutation c. G1136T (p.G379V) in KCNB1, which is not available in the databases mentioned above. This is the first case report of KCNB1 gene mutation in China. Eight cases have been reported so far worldwide and all of them were diagnosed with refractory epilepsy. Those 8 reported cases of encephalopathy were all due to de novo mutation. Conclusion The main clinical features of patients with KCNB1 mutations include severe to profound intellectual disability, intractable seizures, hypotonia and regression of cognition and motor activity which lead to poor prognosis.

Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism""RDP""DYT12" as key words was reviewed. Result: The proband boy was three years and four months old (April 2015) when he had the first attack of the disease. After a febricity, he suddenly acquired acute aphasia and limb movement disorder. Rehabilitation therapy and supportive treatment made his speech gradually recovered but still slurred. However, his abnormal walking posture still existed. Nine months later (January 2016, 4 years and one months old), symptoms including aphasia, dysphagia, and weakness with rostrocaudal gradient reoccured after fever. The disease progressed to the critical condition within 24 hours. He"seizured" four times with tonic spasms of limbs but without loss of consciousness. Family history showed his grandparents were consanguineous marriage. His mother and brother also developed abnormal gait and dysarthria after an infection before primary school age. Their symptoms improved gradually without relapsing. However, they did not recover entirely with mild intellectual disability. His mother had a healthy brother and sister. This proband had no other siblings but the brother. Heterozygous missense mutation p. R756H in ATP1A3 gene was detected in this proband, his mother and his brother. This mutation had been reported pathogenically related to RDP, and it located in highly conserved gene region. Benzodiazepine was used for the proband and his brother, with the proband being improved better although not completely. Meanwhile, benzodiazepine had no significant effect on his mother because of poor compliance. This is the first case report of RDP in China. The mutations of ATP1A3 have been previously reported in 51 patients including 6 large families and 16 other unrelated patients. A total of 14 different mutations in ATP1A3 gene with RDP have been reported to date, including 12 missense mutations, a 3-bp in-frame deletion, and a 3-bp in-frame insertion. The sporadic cases all had the typical clinical phenotypes of RDP, such as the abrupt onset of dysarthria, dysphagia, limb dystonia with bradykinesia, and postural instability. The symptoms of bulbar and arms were much more obvious. It was hard to diagnose RDP in a family because some patients had typical symptoms of RDP, while the others might experience from mild symptoms to no symptoms, which might be related to incomplete penetrance of RDP. Two cases carrying the same mutation as our patients also presented some overlapping phenotypes. Conclusion The p. R756H heterozygous mutation in ATP1A3 gene is the pathogenic mutation of RDP, analysis of genotype-phenotype correlations of RDP will be very important and meaningful.

Objective To investigate the relationship between blood pressure variability (BPV) and left ventricular diastolic function in patients with essential hypertension.Methods Left ventricular diastolic function of 252 hypertensive patients were assessed by early (E) diastolic transmitral flows to early diastolic mitral annular velocity (Ea) (E/Ea) ratio derived from Doppler echocardiography.Patients were divided into two groups according to normal left ventricular diastolic function group (E/Ea ＜ 15,n =168) and left ventricular diastolic dysfunction group (E/Ea ≥ 15,n =84).All patients were monitored by ambulatory blood pressure.Standard deviation (SD) and coefficient of variation (CV) of blood pressure were calculated as the BPV.Relationship between BPV and left ventricular diastolic function were analyzed by multivariate logistic regression analysis.Results All-day average diastolic blood pressure(DBP),the day systolic blood pressure (SBP),night SBP,night DBP,SBPSD,DBPSD and DBPCV in the left ventricular diastolic dysfunction group were significantly higher than in the normal diastolic function group (all P ＜ 0.05).Multivariate logistic regression analysis showed that left ventricular diastolic dysfunction was associated with SBPSD (OR:1.126,95 ％ CI:1.054-1.203,P ＜ 0.01),SBPCV (OR:1.127,95 ％ CI:1.036-1.225,P ＜ 0.01) in this patient cohort.Conclusion High variability of SBP is correlated with left ventricular diastolic dysfunction in hypertensive patients.

OBJECTIVE: To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome. METHODS: Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother. CONCLUSION The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.
Asian Continental Ancestry Group ; China ; Coffin-Lowry Syndrome ; genetics ; Humans ; Mutation ; Pedigree ; Ribosomal Protein S6 Kinases, 90-kDa ; genetics ; Sequence Deletion