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OBJECTIVE@#To explore the genetic etiology for a child featuring mental retardation, language delay and autism.@*METHODS@#G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents.@*RESULTS@#The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants.@*CONCLUSION@#The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
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Humanos , Niño , Embarazo , Femenino , Discapacidad Intelectual/genética , Diagnóstico Prenatal , Cariotipificación , Bandeo Cromosómico , Deleción CromosómicaRESUMEN
We reported a fetus with limb abnormalities and abnormal ultrasound soft markers diagnosed with nemaline myopathy. A pregnant woman (G1P0) underwent amniocentesis at 18 +2 gestational weeks due to thickened nuchal translucency suggested by ultrasound at 13 +5 gestational weeks. Karyotyping and single nucleotide polymorphism array of the amniotic fluid cells showed no fetal abnormalities. However, ultrasonographic reexaminations at 23, 28, and 28 +1 weeks indicated limb abnormalities and thickened nuchal fold, and the pregnant woman chose to terminate the pregnancy at 29 +2 gestational weeks. Whole exome sequencing showed compound heterozygous mutations of c.602G>A (p.W201*) and c.1516A>C (p.T506P) in the KLHL40 gene inherited from the mother and the father, respectively, resulting in nemaline myopathy type 8.
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OBJECTIVE@#To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region.@*METHODS@#Capillary hemoglobin electrophoresis and genetic testing for α and β globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves.@*RESULTS@#4591 patients with α, β, and αβ compound thalassemia were identified by genetic testing. The most common genotypes for α and β thalassemia included --SEA/αα and β654/βN, β41-42/βN, and β17/βN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, β-, αβ-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively.@*CONCLUSION@#HbA2 is an efficient indicator for identifying intermediate types of α-, β-, and αβ compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for β-thalassemia mutations.
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Humanos , Genotipo , Hemoglobina A2/genética , Heterocigoto , Tamizaje Masivo , Mutación , Talasemia alfa , Talasemia beta/genéticaRESUMEN
【Objective】 To investigate scalp acupuncture’s protective effect on brain neurons and its effect on motor function in ischemic stroke rats and the possible mechanisms. 【Methods】 The rat model of ischemic stroke was prepared by the modified Longa suture method; the rats were randomly divided into model group, scalp acupuncture treatment group, inhibitor group, scalp acupuncture treatment + inhibitor group, and sham operation group. After a series of interventions, we evaluated the neurological, behavioral and motor functions of rats in each group after the treatment was over. TTC staining was used to detect cerebral infarction area. Neuron morphology was observed by Nissl staining. qPCR and Western blotting were used to detect the mRNA and protein expression levels of genes related to phosphatidyl inositol-3-kinase (PI3K)/serine-threonine protein kinase (AKt) pathway in the ischemic brain tissue of the rats. 【Results】 In the inhibitor group, the model group, the scalp acupuncture treatment group, and the scalp acupuncture treatment+inhibitor group, the neurological impairment and motor function score gradually decreased, the escape latency gradually shortened, the target quadrant residence time prolonged, the proportion of cerebral infarction area decreased, the number of Nissl bodies increased, the relative expressions of PI3K and AKt mRNA and protein increased (P<0.05), and the neuronal morphology improved. 【Conclusion】 Scalp acupuncture can protect cerebral neurons of rats with ischemic stroke and enhance their motor function. The mechanism may be related to the regulation of PI3K/AKt signaling pathway.
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OBJECTIVE@#To apply combined non-invasive prenatal testing (NIPT), chromosomal karyotyping and chromosomal microarray for the screening and prenatal diagnosis of a fetus with supernumerary small marker chromosome (sSMC).@*METHODS@#Standard NIFTY and full gene NIFTY kits were applied to detect free DNA (cfDNA) isolated from peripheral blood sample of a pregnancy woman. Amniocentesis was carried out for the woman for an abnormal NIPT result. G-banded karyotyping and single nucleotide polymorphism array (SNP array) were used to determine the karyotype and copy number variants in the fetus. The result was validated with a fluorescence in situ hybridization (FISH) assay.@*RESULTS@#Both the standard NIFTY and full gene NIFTY indicated abnormal dup(chr12:707 334-33 308 759), for which the T score value of copy number anomaly in full gene NIFTY is 6.823, which is higher than the standard NIFTY's T-score value of 3.9535. The two NIFTY results were both above the normal threshold ± 3. Conventional G-banding analysis of amniocytes showed that the fetus has a karyotype of 47,XY,+mar. SNP-array delineated duplication of 12p (arr [hg19]12p13.33p11.1 (173 786_34 385 641)× 4, which was verified by FISH. Based on the above results, the fetus was diagnosed as a novel case of Pallister-Killian syndrome.@*CONCLUSION@#NIPT has a certain value for the prenatal detection of PKS. Combined use of multiple techniques can facilitate delineation of the source of sSMC.
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Femenino , Humanos , Embarazo , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 12/genética , Hibridación Fluorescente in Situ , CariotipificaciónRESUMEN
OBJECTIVE@#To explore the genetic etiology of a neonate with suggestive features of Cornelia de Lange Syndrome (CdLS).@*METHODS@#Chromosome karyotyping, copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the child. Meanwhile, peripheral venous blood samples were taken from his parents for verifying the suspected pathogenic variants detected in the child.@*RESULTS@#The child has exhibited developmental delay, microcephaly, ptosis, micrognathia, and low ear setting, and was suspected as CdLS. No abnormality was found by karyotyping and CNV-seq analysis. WES has detected 5 heterogeneous variants and 1 hemizygous variant on the X chromosome. Combining the genetic pattern and result of family verification, a hemizygous C.3500T>C (p.ile1167thr) of the SMC1A gene was predicted to underlay the clinical manifestations of the patient. This variant was not recorded in the dbSNP and gnomAD database. PolyPhen2, Provean, SIFT all predicted the variant to be harmful, and PhastCons conservative prediction is was a conservative mutation. ACMG variant classification standard evidence supports are PM2, PP2, and PP3.@*CONCLUSION@#The novel c.3500T>C (p.Ile1167Thr) missense mutation of the SMC1A gene probably underlay the genetic etiology of CdLS in this child. Above results has enriched the mutation spectrum of CdLS type II, and facilitated clinical counseling for this family.
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Niño , Humanos , Recién Nacido , Proteínas de Ciclo Celular/genética , Variaciones en el Número de Copia de ADN , Síndrome de Cornelia de Lange/genética , Mutación , Fenotipo , Secuenciación del ExomaRESUMEN
OBJECTIVE@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*METHODS@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*RESULTS@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*CONCLUSION@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.
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Niño , Femenino , Humanos , Masculino , Embarazo , Proteínas Adaptadoras Transductoras de Señales , Bandeo Cromosómico , Duplicación Cromosómica , Cromosomas Humanos Par 15 , Genética , Discapacidades del Desarrollo , Genética , Discapacidad Intelectual , Genética , Cariotipificación , Diagnóstico PrenatalRESUMEN
Objective@#To explore the genetic basis of a child with developmental delay and intellectual disability.@*Methods@#Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis.@*Results@#No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus.@*Conclusion@#15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.
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Cross-modal selective attention enhances the processing of sensory inputs that are most relevant to the task at hand. Such differential processing could be mediated by a swift network reconfiguration on the macroscopic level, but this remains a poorly understood process. To tackle this issue, we used a behavioral paradigm to introduce a shift of selective attention between the visual and auditory domains, and recorded scalp electroencephalographic signals from eight healthy participants. The changes in effective connectivity caused by the cross-modal attentional shift were delineated by analyzing spectral Granger Causality (GC), a metric of frequency-specific effective connectivity. Using data-driven methods of pattern-classification and feature-analysis, we found that a change in the α band (12 Hz-15 Hz) of GC is a stable feature across different individuals that can be used to decode the attentional shift. Specifically, auditory attention induces more pronounced information flow in the α band, especially from the parietal-occipital areas to the temporal-parietal areas, compared to the case of visual attention, reflecting a reconfiguration of interaction in the macroscopic brain network accompanying different processing. Our results support the role of α oscillation in organizing the information flow across spatially-separated brain areas and, thereby, mediating cross-modal selective attention.
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Cross-modal selective attention enhances the processing of sensory inputs that are most relevant to the task at hand. Such differential processing could be mediated by a swift network reconfiguration on the macroscopic level, but this remains a poorly understood process. To tackle this issue, we used a behavioral paradigm to introduce a shift of selective attention between the visual and auditory domains, and recorded scalp electroencephalographic signals from eight healthy participants. The changes in effective connectivity caused by the cross-modal attentional shift were delineated by analyzing spectral Granger Causality (GC), a metric of frequency-specific effective connectivity. Using data-driven methods of pattern-classification and feature-analysis, we found that a change in the α band (12 Hz-15 Hz) of GC is a stable feature across different individuals that can be used to decode the attentional shift. Specifically, auditory attention induces more pronounced information flow in the α band, especially from the parietal-occipital areas to the temporal-parietal areas, compared to the case of visual attention, reflecting a reconfiguration of interaction in the macroscopic brain network accompanying different processing. Our results support the role of α oscillation in organizing the information flow across spatially-separated brain areas and, thereby, mediating cross-modal selective attention.
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OBJECTIVE@#To explore the genetic basis for a child featuring developmental delay, intelligent disability and language deficit.@*METHODS@#Peripheral blood samples of the child and her parents were collected for routine G-banding karyotyping analysis and single nucleotide polymorphism array (SNP array) detection. Amniotic fluid was also sampled from the mother for karyotyping analysis and SNP array detection.@*RESULTS@#No karyotypic abnormality was found with the child and her parents. SNP array showed that the child has carried a 761.4 kb microdeletion at 16p11.2, while her mother has carried a 444.4 kb microduplication at 15q13.3. Her father's result was negative. Further analysis showed that the 15q13.3 microduplication was inherited from her maternal grandfather who was phenotypically normal. Prenatal diagnosis showed that the fetus has inherited the15q13.3 microduplication from its mother.@*CONCLUSION@#The child has carried a de novo 16p11.2 microdeletion, which overlaps with 16p11.2 microdeletion syndrome region, in addition with similar clinical phenotypes. The 16p11.2 microdeletion probably underlies her abnormal phenotype.
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Niño , Femenino , Humanos , Embarazo , Bandeo Cromosómico , Deleción Cromosómica , Cromosomas Humanos Par 16 , Discapacidades del Desarrollo/genética , Feto , Cariotipificación , Polimorfismo de Nucleótido Simple , Diagnóstico PrenatalRESUMEN
Objective To investigate the screening and gene test of thalassemia in couples of childbearing age in Quanzhou City Fujian Province.Methods A prospective design was used to collect 41 026 pairs of marriage and excellent blood samples from 12 counties in Quanzhou City,Fujian Province from July 2017 to July 2018.To analyze screened the genetic test results and genotyping of positive thalassemia couples.Firstly,the erythrocyte mean corpuscular volume (MCV) and erythrocyte mean corpuscular hemoglobin (MCH) were used for primary screening.Both sides of the couple were performed hemoglobin electrophoresis when at least one of the couples was screened positive.Couples were performed thalassemia gene detection when blood routine or hemoglobin electrophoresis of the couples was positive.The characteristics of genotypes,homologous carriers and distribution of gene mutations in Quanzhou City were analyzed.Results Among 41 026 couples of childbearing age,4 470 couples had abnormal blood routine examination results in at least one of the couples,the rate of positive screening was 10.90%.There were 952 couples who represented abnormal blood routine or hemoglobin abnormal electrophoresis.Totally 658 cases were diagnosed as thalassemia after thalassemia gene detection,and the diagnosis rate was 34.56%.Totally 493 cases of α-thalassemia were detected,and the higher genotypes were:--SEA/αα,-α3.7/αα and ααQS/αα;and 155 cases of β-thalassemia were detected,and the higher genotypes were:IVS-Ⅱ-654/N,CD41-42/N,CD17/N,βE/N,-28/N;10 cases of α complex β thalassemia were detected.Totally 56 high-risk couples with homologous thalassemia gene were detected,including 50 pairs of homologous α-thalassemia,4 pairs of homologous β-thalassemia,and 2 pairs of homologous couples with α complex β thalassemia.The rate of diagnosis and detection rate of homologous thalassemia in different counties of Quanzhou were quite different (x2 =41.939,21.129,P < 0.05).Among them,the rate of diagnosis in Dehua County was the highest (53.13%,85/160),followed by Yongchun County (39.38%,63/160) and Nan'an City (37.73%,123/326).In addition,the detection rate of homologous thalassemia in Dehua County was the highest (15.00%,12/80),followed by Anxi County (8.44%,13/154) and Yongchun County (7.50%,6/80).Conclusions The incidence of thalassemia in couples of childbearing age in Quanzhou is higher,mainly due to α-thahssemia.The high-risk type of homologous carrier is present in α-thalassemia,which should be paid attention to the prevention and control of thalassemia.
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<p><b>OBJECTIVE</b>To analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.</p><p><b>METHODS</b>G-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes.</p><p><b>RESULTS</b>The karyotypes of the proband, her mother and her fetus were all 46,X,del(X)(q24). Combined FISH and karyotyping analysis suggested that the proband and her fetus both carried a Xq24q27.3 deletion.</p><p><b>CONCLUSION</b>The Xq24q27.3 deletion carried by the family is closely related with premature ovarian failure but not with short stature, gonadal dysgenesis and primary amenorrhea.</p>
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Adulto , Femenino , Humanos , Bandeo Cromosómico , Deleción Cromosómica , Cromosomas Humanos X , Hibridación Fluorescente in Situ , Cariotipificación , Insuficiencia Ovárica Primaria , GenéticaRESUMEN
Objective To discuss influence of different anesthetic methods on postoperative serum excitatory amino acid (EAA) levels and cognitive function of elderly patients operated with transurethral resection of prostate (TURP). Methods A total of 100 cases of elderly patients with benign prostatic hyperplasia (BPH), in Department of Anesthesiol-ogy of the hospital to be given the TURP operation at certain time were selected, and divided into general anesthesia group (n=50) and epidural group (n=50) in accordance with different anesthetic methods, who were given intubation anesthesia and epidural anesthesia respectively. The changes of serum EAA levels and cognitive function before anes-thesia, 4 hours, 8 hours, one day and four days after the operation of patients in two groups were observed and record-ed. Results Serum EAA levels 4 hours, 8 hours and one day after the operation of patients in two groups rose than be-fore (P<0.05), and the rising rates in epidural group were much lower than those in general anesthesia group (P<0.05). Meanwhile, MMSE scores of patients in two groups 4 hours, 8 hours and one day after the operation declined than be-fore (P<0.05), and the declining rates in epidural group were much lower than those in general anesthesia group (P<0.05). Four days after operation, the serum EAA levels and MMSE scores of patients in two groups returned to the levels before anesthesia (P>0.05). Conclusion Both intubation anesthesia and epidural anesthesia have effect on early cogni-tive function of elderly patients operated with TURP, and the former has less influence on early cognitive function of patients, which may have close effect on the lower rising rate of serum EAA level by epidural anesthesia.
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Objective To discuss the related dangerous factors of morbidity of chronic prostatitis/chronic pelvic pain syndrome(CP/CPPS). Methods A total of 200 cases of clinical information of patients with CP/CPPS were analyzed, re-ceived and cured, who were selected as observation group, and 200 cases of male urinary systerm infection patients, who given the medical treatment at the same time were selected as control group. The circumstances of urethritis, unre-strained sexual life, frequent masturbation, urinary injury, anxious psychology, infection of sexual partner, long-time withholding urine, frequent stay up and long-term fixed position of patients in two groups were observed. The multi-variate Logistic regression analysis on patients with CP/CPPS were observed. Results The circumstances of unrestrained sexual life, frequent masturbation, anxious psychology, long-time withholding urine, frequent stay up and long-term fixed position of patients in two groups, statistical differences were appeared (P<0.05), which were the dangerous fac-tors to induce CP/CPPS by multivariate Logistic regression analysis on patients with CP/CPPS (P<0.05). Conclusion Healthy living habit, regular and moderate sexual life, positive psychology and suitable self healthy care are the basis to decrease occurrences of CP/CPPS.
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Objective To analyze influence factors of health-promoting lifestyles of patients with chronic prostatitis(CP). Methods One hundred and twenty cases with CP were selected, who were researched by health-promoting lifestyles scales, and related factors which influenced health-promoting lifestyles were analyzed as well. Results Health-promoting lifestyles score of patients was(120.4±21.7),which was much lower than full score(208 scores),and were showed that,total health-promoting lifestyles of patients with CP was bad,and whose nutritional dimension score was the highest (26.9±5.7), health responsibility came second (24.8±6.9), and the physical activities score was the lowest (14.3±5.2). The single-factor analysis result were showed that, health-promoting lifestyles scores of patients with high educational level, long-term disease duration, living alone, satisfactory of sexual life and high per-capita income were high (P<0.01), while multi-factor analysis result showed that, educational level, satisfactory of sexual life, financial situation and disease duration came into regression equation, and the higher educational level, high satisfactory of sexual life and better financial situation, made the better health-promoting lifestyles. Conclusion The overall health-promoting lifestyles of patients with CP are bad, and the educational level, satisfactory of sexual life and financial situation are the main factors to influence patients to take health-promoting lifestyles.
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Objective To investigate the psychological status of patients with chronic prostatitis , and analyze the relat-ed factors. Methods Selected 200 cases of chronic prostatitis patients hospitalized ,applied the SCL-90 compared with the national norm, and chose 200 healthy males as healthy control group,the SAS,SDS score and anxiety,depression, and related factors analysis for existence anxiety mood ,depression in patients with chronic prostatitis were compared. Results The chronic prostatitis patients positive for SCL-90 project scale,anxiety,depression,the number of forced symptom,terror scores were respectively significantly higher than the norm group (P<0.05),in patients with chronic prostatitis SAS, SDS scores were significantly higher than that in healthy control group(P<0.05). 200 cases of chronic prostatitis patients appear anxiety accounted for 44.00%,Depression accounted for 36.00%. respectively,were signifi cantly higher than that in healthy control group (P<0.05). The common factors of unmarried, low cultural level, farmer, doctor many times,at their own expense for the occurrence of anxiety and depression in patients with chronic prostatitis. Conclusion The patients with chronic prostatitis have anxiety ,depression and other negative psychological status,its causes are related closely to the unmarried patients with low education level,farmer,doctor many times,at their own expense.