Adolescent ; Adult ; Atrial Appendage ; diagnostic imaging ; Blood Flow Velocity ; Echocardiography, Transesophageal ; Female ; Humans ; Male ; Middle Aged ; Mitral Valve Stenosis ; physiopathology ; Rheumatic Heart Disease ; physiopathology ; Thromboembolism ; etiology

OBJECTIVETo diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice.

METHODSConventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid.

RESULTSThe karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome.

CONCLUSIONA rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.

Adult ; Amniotic Fluid ; cytology ; Aneuploidy ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 22 ; genetics ; Eye Abnormalities ; genetics ; Female ; Humans ; Isochromosomes ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Tetraploidy

This study was aimed to investigate the cardiovascular function in rats with post-traumatic stress disorder (PTSD) and the potential association with the activities of the rostral ventrolateral medulla (RVLM) and the medial habenular nucleus (MHb). Multi-channel in vivo recordings were used to simultaneously acquire spontaneous neuronal firing and peripheral physiological indices, and FluoroGold (FG) retrograde tracing technique was used to observe the projections of labeled neurons in the MHb. The results showed that the discharge frequency of RVLM and MHb neurons, the systolic blood pressure (SBP), and the mean arterial pressure (MAP) in the PTSD group were all increased significantly compared with those in control group (P < 0.05). MHb neurons were retrogradely labeled by FG through microinjection (4% FG, 0.5 μL) into the RVLM. In the control group, electrical stimulation in the MHb increased heart rate (HR) at 100-300 μA (P < 0.05), elevated SBP and MAP at 200-300 μA (P < 0.05), and remarkably increased the RVLM neuronal discharge frequency at 100-500 μA (P < 0.05 or P < 0.01). In the PTSD group, however, only the discharge frequency of RVLM neurons was increased by the electrical stimulation at 100-300 μA (P < 0.05). These results suggest that cardiovascular activities of the PTSD model rat are enhanced, and this change may be related to the activity changes of RVLM and MHb and the potential connection between the two nuclei.
Animals ; Blood Pressure ; Medulla Oblongata ; Neurons ; Rats ; Rats, Sprague-Dawley ; Stress Disorders, Post-Traumatic

OBJECTIVETo assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.

METHODSSixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH.

RESULTSThe marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case).

CONCLUSIONFISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.

Adolescent ; Adult ; Child ; Chromosome Aberrations ; Female ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genetic Markers ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Male ; Young Adult

Objective To investigate the life quality status in autistic disorder children and its influencing factors.Methods Pediatric Quality of Life Inventory (PedsQL4.0) was used to measure the life quality of 200 children with autistic disorder and 120 healthy children.Application of Gesell Development Diagnosis Scale (1981) test was used for intelligence development.Clancy Autism Behavior Scale,Autism Behavior Checklist,and Childhood Autism Rating Scale were used to evaluate the illness degree.Results The life quality of autistic disorder group was lower than that of control group in the scores of physical functioning,emotional functioning,social functioning,mental domain and the totals cores of PedsQL,the differences were significant (all P ＜0.01).High-functioning autism in all aspects and the overall life quality were higher than those of low function group,the differences were statistically significant (all P ＜0.01).By using variance analysis,intelligence factors had an impact on the patient's life quality,the difference was statistically significant(P ＜ 0.01).Correlation analysis results suggested that the autism condition degree was heavier,the intelligence level was lower,the life quality was worse,and the difference was statistically significant (P ＜ 0.05).Conclusion Children with autistic disorder suffer grievous influence in life quality.