Objective To explore the expression levels of SPARC related modular calcium binding 1(SMOC1)and olfactomedin-3(OLFM3)in the cerebrospinal fluid of Alzheimer's disease(AD)patients and their value in evaluating the severity of the disease.Methods A total of 108 AD patients(AD group)treated at Baoji People's Hospital from January 2020 to January 2023 were selected,and 60 non cognitive dysfunction patients who underwent lumbar puncture examination during the same period were selected as the control group.Enzyme-linked immunosorbent assay(ELISA)was used to detect cerebrospinal fluid SMOC1,OLFML3,β-Amyloid protein(Aβ1-40,Aβ1-42)and P-Tau protein levels.Pearson correlation analysis was conducted to analyze cerebrospinal fluid SMOC1,and OLFML3 levels and their correlation with clinical indicators.Logistic regression was used to analyze the influencing factors of AD severity.Receiver operating characteristic curves were used to analyze the predictive value of cerebrospinal fluid SMOC1 and OLFML3 on the severity of Alzheimer's disease.Results The levels of SMOC1(68.47±11.23 ng/L),OLFML3(110.58±21.39 ng/L),P-Tau(569.07±97.24 ng/L)and CDR score(1.5 score)in the cerebrospinal fluid of the AD group were higher than those in the control group(22.60±4.16 ng/L,36.94±6.97ng/L,182.66±55.37,0 score),while Aβ1-42(292.23±55.36 ng/L),MoCA score(7.88±2.05 score)and MMSE score(13.15±2.39 score)were lower than those in the control group(397.16±60.57ng/L,23.13±4.31 score,28.02±4.26 score),and the differences were statistically significant(t=30.465,25.885,28.313,51.211,11.380,31.038,29.013,all P＜0.05).SMOC1 and OLFML3 of the cerebrospinal fluid in the AD group were positively correlated with P-Tau and CDR score(r=0.703,0.634;0.682,0.713,all P＜0.05),but were negatively correlated with Aβ1-42,MoCA score and MMSE score(r=-0.662,-0.599;-0.660,-0.588;-0.745,-0.731,all P＜0.05).SMOC1(89.90±12.17 ng/L),OLFML3(142.46±22.48),and P-Tau(618.83±98.19 ng/L)in the cerebrospinal fluid of AD patients in the moderate to severe group were higher than those in the mild group(56.36±10.52 ng/L,92.56±20.25 ng/L,542.25±95.30 ng/L),Aβ1-42 in the moderate to severe group(260.76±53.60 ng/L)was lower than those in the mild group(310.02±56.54 ng/L),and the differences were statistically significant(t=15.029,11.818,3.968,4.430,all P<0.05).SMOC1(OR=1.451,95%CI:1.120～1.879),OLFML3(OR=1.442,95%CI:1.096～1.897)and P-Tau(OR=1.589,95%CI:1.258～2.006)in cerebrospinal fluid were risk factors for moderate to severe cognitive impairment in AD patients,while Aβ1-42 was a protective factor.The AUC(95%CI)of SMOC1,OLFML3 in cerebrospinal fluid,and their combinative forecasting evaluating moderate to severe AD patients were 0.882(0.844～0.929),0.846(0.805～0.877)and 0.931(0.883～0.965),respectively,and their combinative forecasting was higher than two individual indicators(Z=3.558,4.172,P=0.004,0.000).Conclusion The levels of SMOC1 and OLFML3 in cerebrospinal fluid are elevated in AD patients,which are related to the severity of AD.The combinative forecasting of the two has high predictive value for moderate to severe AD.

OBJECTIVE: To provide genetic counseling for a couple with recurrent detection of fetal structural abnormality during second trimester pregnancy. METHODS: The fetal tissue and peripheral blood samples of the couple were subjected to G banded chromosomal analysis, copy number variation sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) assays. RESULTS: CNV-seq has detected a 6.59 Mb duplication at 7p22.3-p22.1 and a 3.81 Mb deletion at 4p16.3 in the fetal tissue, though conventional karyotyping results of both parents were normal. FISH has confirmed that the father has harbored a cryptic translocation of t(4;7)(7p+,4q+,4p+,7q+). CONCLUSION The ultrasonographic abnormality of the fetuses may be attributed to the 7p microduplication and 4p microdeletion derived from the cryptic translocation carried by the father. Reciprocal translocation of tiny chromosomal segments should be suspected for couples with recurrent adverse pregnancies but apparently normal karyotypes.
Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Translocation, Genetic

OBJECTIVE: To determine the size and origin of a small supernumerary marker chromosome (sSMC) identified in a patient featuring developmental retardation. METHODS: High-throughput sequencing for copy number variation (CNV-seq) was carried out to delineate the sSMC identified upon G-banded chromosomal karyotyping. The genotype-phenotype correlation was explored by database retrieval and literature analysis. RESULTS: The patient was found to have a karyotype of mos 47,XX,+mar[36]/46,XX[23]. CNV-seq has identified a 18 Mb duplication at 5p14.1-p12 (hg19: 27,399,261-46,083,784)x2.6 with a mosaicism rate of approximately 60%. CONCLUSION Patients with mosaic partial trisomy 5p may have extensive clinical manifestations, and the ratio of trisomy 5p cells is correlated with clinical severity of this syndrome.

OBJECTIVE: To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. METHODS: A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR). RESULTS: A microduplication of 16p11.2: 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2. CONCLUSION The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.
Chromosome Banding ; Chromosomes, Human, Pair 21 ; genetics ; DNA Copy Number Variations ; Diagnostic Errors ; Down Syndrome ; Female ; Humans ; Karyotyping ; Trisomy ; diagnosis

OBJECTIVETo clarify the nature of a DMD splice acceptor mutation c.2381-3T>C.

METHODSGenomic DNA was extracted from 5 members of a family affected with DMD. For an obligatory carrier, after excluding gross deletion and duplication of the DMD gene with multiplex ligation-dependent probe amplification (MLPA) method, all coding and splice site sequences of the DMD gene were analyzed with Next Generation Sequencing followed by confirmation with targeted Sanger sequencing. Mutations of the carrier were detected in other 4 members. For the splice site mutation, mini-gene was constructed and expressed in vitro to detect the number of transcript and cDNA sequence.

RESULTSA known nonsense mutation (c.8038C>T, p.Arg2680Ter) was identified in the carrier, her sister and the mother. The rest 4 members, except for the mother from the first generation, have all carried the c.2381-3T>C mutation. The latter has been described as a splice site mutation to cause DMD. One of 135 male adults without DMD was also detected to have carried the c.2381-3T>C mutation. No additional transcript was produced by the mini-genes containing c.2381-3T>C mutation.

CONCLUSIONThe c.8038C>T（p.Arg2680Ter）mutation of DMD gene probably underlies the disease in this family. The presence of the c.2381-3T>C mutation in a asymptomatic male and a non-DMD male control, together with the normal in vitro expression of the mini-gene carrying the c.2381-3T>C, strongly suggested that the c.2381-3T>C mutation collected in the Human Gene Mutation Database is a rare SNP without significant pathogenicity.

BACKGROUND:Related medical researches have shown that the incidence of simple diastolic heart failure is higher than that of systolic heart failure. OBJECTIVE:To investigate the application value of echocardiography in the monitoring of rabbit models of simple diastolic heart failure. METHODS: Sixty healthy male New Zealand rabbits were included in this study. The pressure overload hypertrophy rabbit model was established by the method of abdominal aortic coarctation. Rabbits were randomly divided into surgical group and sham group. Al rabbits were subjected to the echocardiography and left heart catheterization, the left ventricular end-diastolic pressure and relaxation time constants were measured to judge the presence of simple diastolic heart failure. RESULTS AND CONCLUSION:Compared with the sham group, the aortic annular diameter was significantly reduced before surgery and at 1, 4, 8 weeks after surgery in the model group (P < 0.05); the peak of retrograde velocity at atrial contraction was decreased in the model rabbits at 8 weeks after surgery (P< 0.05); the left ventricle dry weight, ratio of left ventricle dry weight/body weight, left ventricular posterior wal thickness, systolic pressure, interventricular septum, left ventricle systolic pressure, and left ventricular end-diastolic pressure were obviously increased at 8 weeks after surgery (P < 0.05). Experimental findings indicate that rabbit models of simple diastolic heart failure are successfuly established, and echocardiography can effectively monitor the left ventricular systolic and diastolic functions in cardiac hypertrophy.

TSPY1 (testis-specific protein, Y-linked 1) gene family, located in male-specific region of Y-chromosome (MSY), has the maximum number of copies organized as a long tandem repeat array in protein-coding gene families of human genome. TSPY1 is identified to be the most important candidate gene for gonadoblastoma, and its coding protein can promote the proliferation and differentiation of tumor cells. Recently, TSPY1 gene family is also proposed to play an important role in spermatogenesis. In this review, the structure characteristics of the gene family were illustrated, and the functional studies of TSPY1 in the process of tumorigenesis and spermatogenesis were discussed.
Cell Cycle Proteins ; genetics ; Chromosomes, Human, Y ; genetics ; Gene Dosage ; Genetic Predisposition to Disease ; genetics ; Gonadoblastoma ; genetics ; Humans ; Male ; Spermatogenesis ; genetics ; Testicular Neoplasms ; genetics

Objective To compare the 2 methods of the flow cytometry and the microcolumn gel agglutination assay for testing anti-ABO Ig G antibody.Methods The flow cytometry and the microcolumn gel agglutination assay were adopted to detect the an-ti-ABO IgG antibody in the O blood type pregnant women(experimental group)and the A/B blood type pregnant women (control group).The difference in the positive rates between the experimental and control groups and the correlation between these two methods were analysed.The different titers of samples were selected for detection on different days to compare their reproducibili-ty.Results 300 samples from the experimental goup and 300 samples from the control group were collected.The detection results of 2 methods showed that the positive rates of the experimental group was significantly higher than that of the control group with statistical difference(P <0.05).The correlation coefficients(rs )between these two methods were 0.694.The coefficient of variation in the flow cytometry was smaller than that in the microcolumn gel agglutination assay(P <0.05).Conclusion ABO blood type in-compatibility is more common in O type pregnant women.The flow cytometry and the microcolumn gel agglutination assay possess good correlation.The reproducibility of the flow cytometry is better than that of microcolumn gel agglutination assay.

Objective To explore the application effect of four integrated nursing model in rehabilitation nursing of elderly patients with lung cancer .Methods Eighty-four elderly patients with lung cancer were chosen and were randomly divided into the control group and the intervention group , each with 42 cases.The control group received the routine holistic nursing mode , and the intervention group received the four integrated nursing model on the basis of the control group .The nursing effect was evaluated by the FACT , self-rating depression scale ( SDS ) and self -rating anxiety scale ( SAS ) in two groups .Results No differences were found in the scores of FACT , SDS, SAS between two group before the intervention (P>0.05). The scores of every scales of FACT were respectively (69.99 ±1.45), (69.87 ±2.54), (70.24 ±1.36), (69.25 ±2.02), (68.24 ±1.41) in the intervention group after the intervention , and were higher than those of the control group and those before the intervention (P<0.05).No differences were found in the scores of every scales of FACT in the control group before and after the intervention (P>0.05).The scores of SDS and SAS were respectively (33.893 ±4.257), (29.754 ±3.896) in the intervention group after the intervention , and were lower than (39.450 ±5.058), (34.639 ±5.785) in the control group, and the differences were statistically significant (t=-1.023,1.903, respectively;P<0.05).Conclusions The four integrated nursing model has a positive significance on the improvement of the overall quality of life in patients with lung cancer , and is worthy of the clinical promotion .

Objective To explore the effects of the mindfulness mode intervention on the adverse reaction of the patients with breast cancer during the period of chemotherapy.Methods 75 patients with breast cancer during the period of chemotherapy were randomly assigned to the control group(38 cases) and the intervention group(37 cases).All patients received the routing nursing of chemotherapy.In addition the intervention group received the mindfulness intervention.The adverse reaction of chemotherapy questionnaire was used to investigate the level of their adverse reaction before the intervention and two months after the intervention.Results After the intervention,the scores of the adverse reaction in the intervention group was (32.19± 7.70)points,less than that of the control group,which was (36.97±10.03)points.There was statistically significant difference between two groups.Conclusions The mindfulness model intervention could reduce the adverse reaction of the patients with breast cancer.