Objective To construct a mindfulness-based self-care intervention program for patients with chronic heart failure(CHF)and their caregivers based on binary disease management theory and explore its small-scale application effect.Methods A prospective study was conducted on 100 pairs of CHF patients admitted to our hospital and their caregivers from January 2024 to October 2024.After excluding those with invalid survey data,92 pairs were finally included and randomly divided into an observation group and a control group,each consisting of 46 pairs.The control group received routine nursing care,while the observation group received the mindfulness-based self-care program based on binary disease management theory in addition to routine nursing care.The Hamilton Anxiety Scale(HAMA),Hamilton Depression Scale(HAMD),Self Compassion Scale(SCS),and Mindfulness Attention Awareness Scale(MAAS)were used to compare the anxiety,depression,self-care,and mindfulness levels of patients and caregivers at three time points:pre-intervention(T1),right post-intervention(T2),and one month post-intervention(T3).The Caregiver Positive Perception Scale(PAC)was used to evaluate the caregiver's positive perception at each time point.Results The HAMA and HAMD scores of patients and caregivers in the observation group were lower than those in the control group at T2 and T3,while the SCS scores were signifi-cantly higher(all P<0.05).Repeated-measures analysis of variance showed significant differences in HAMA,The mindfulness-based self-care intervention program based on binary disease management theory effectively reduces negative emotions in patients and caregivers,and improves mindfulness and self-care,showing clinical application potential.

Objective To construct a mindfulness-based self-care intervention program for patients with chronic heart failure(CHF)and their caregivers based on binary disease management theory and explore its small-scale application effect.Methods A prospective study was conducted on 100 pairs of CHF patients admitted to our hospital and their caregivers from January 2024 to October 2024.After excluding those with invalid survey data,92 pairs were finally included and randomly divided into an observation group and a control group,each consisting of 46 pairs.The control group received routine nursing care,while the observation group received the mindfulness-based self-care program based on binary disease management theory in addition to routine nursing care.The Hamilton Anxiety Scale(HAMA),Hamilton Depression Scale(HAMD),Self Compassion Scale(SCS),and Mindfulness Attention Awareness Scale(MAAS)were used to compare the anxiety,depression,self-care,and mindfulness levels of patients and caregivers at three time points:pre-intervention(T1),right post-intervention(T2),and one month post-intervention(T3).The Caregiver Positive Perception Scale(PAC)was used to evaluate the caregiver's positive perception at each time point.Results The HAMA and HAMD scores of patients and caregivers in the observation group were lower than those in the control group at T2 and T3,while the SCS scores were signifi-cantly higher(all P<0.05).Repeated-measures analysis of variance showed significant differences in HAMA,The mindfulness-based self-care intervention program based on binary disease management theory effectively reduces negative emotions in patients and caregivers,and improves mindfulness and self-care,showing clinical application potential.

OBJECTIVETo assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.

METHODSThe combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).

RESULTSNineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV.

CONCLUSIONCombined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.

Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Testing ; methods ; Heart Defects, Congenital ; diagnosis ; genetics ; Humans ; Karyotyping ; methods ; Multiplex Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity

OBJECTIVETo identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family.

METHODSDNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing. The amniotic fluid sample was also subjected to G-banded karyotyping and multiplex ligation-dependent probe amplification (MLPA).

RESULTSA homozygous mutation c.760C>T (p.R254X) of the SLC22A5 gene was detected in the proband. Heterozygous mutation c.760C>T (p.R254X) was also found in other family members including the fetus. The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal.

CONCLUSIONThe newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cardiomyopathies ; embryology ; genetics ; Carnitine ; deficiency ; genetics ; China ; Exons ; Female ; Genotype ; Humans ; Hyperammonemia ; embryology ; genetics ; Infant ; Male ; Molecular Sequence Data ; Muscular Diseases ; embryology ; genetics ; Organic Cation Transport Proteins ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5

OBJECTIVETo identify potential mutations among three sisters from a Chinese family suspected with Cockayne syndrome for growth and psychomotor retardation, and to offer genetic counseling and prenatal diagnosis for the family.

METHODSG-banded karyotyping, microarray comparative genomic hybridization (CM-CGH), whole genome exon high-throughput sequencing and Sanger sequencing were employed to identify potential genetic variations for the three patients and their parents.

RESULTSWhole exome sequencing has identified two novel missense mutations, i.e., c.1595A>G (p.Asp532Gly) and c.1607T>G (p.Leu536Trp), in exon 7 of excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6) gene. Sanger sequencing confirmed that all of the three sisters have inherited one of the mutations (c.1607T>G) from their father and another (c.1595A>G) from their mother.

CONCLUSIONThree sisters have all been identified as double heterozygote for mutations c.1607T>G and c.1595A>G and were diagnosed with Cockayne syndrome.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; Cockayne Syndrome ; diagnosis ; genetics ; DNA Helicases ; genetics ; DNA Repair Enzymes ; genetics ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Male ; Molecular Sequence Data ; Pedigree ; Point Mutation ; Poly-ADP-Ribose Binding Proteins

OBJECTIVETo perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.

METHODSMutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.

RESULTSA novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein.

CONCLUSIONA novel c.956 A>T substitution mutation has been identified in a patient featuring MED.

Adult ; Base Sequence ; Cartilage Oligomeric Matrix Protein ; Exons ; Extracellular Matrix Proteins ; genetics ; Female ; Glycoproteins ; genetics ; Humans ; Matrilin Proteins ; Mutation ; Osteochondrodysplasias ; diagnosis ; genetics ; Polymorphism, Single Nucleotide ; Sequence Alignment

OBJECTIVETo use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.

METHODSGenomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.

RESULTSAll of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.

CONCLUSIONBoth array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.

Adult ; Child ; Chromosome Deletion ; Chromosome Duplication ; Comparative Genomic Hybridization ; Humans ; Infant ; Karyotyping ; Male ; Multiplex Polymerase Chain Reaction ; Phenotype ; Translocation, Genetic

Objective To estimate clinical application of multiplex ligation-dependent probe amplification (MLPA) for rapid prenatal detection of aneuploid abnormalities in amniotic fluid.Methods Totally 1229 amniotic fluid samples were collected from the pregnant women receving prenatal diagnosis for chromosomal abnormalities in Prenatal Diagnosis Center of Shenzhen Maternity and Child Healthcare Hospital from October 2009 to December 2010.All the samples were investigated independently with both MLPA and G-band karyotyping to detect aneuploidies of chromosomes X,Y,13,18 and 21.A comparison was followed the results acquired from two methods for evaluation of sensitivity and specificity of MLPA.ResultsThirtyeight aneuploidies were detected by G-band karyotyping,in which 34 were nonmosaic aneuploidies and 4were mosaic aneuploidies.MLPA and G-band karyotyping had consistent results in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21. Among 4 mosaic aneuploidies detected by G-band karyotyping,2 were confirmed by MLPA independently.Conclusions The sensitivity and specificity of MLPA in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21 were clinically acceptable.MLPA provides an efficient,reliable method for rapid detection of aneuploidies.

OBJECTIVETo study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.

METHODSPCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.

RESULTSThe DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.

CONCLUSIONThe E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.

Adult ; Amino Acid Sequence ; Androgen-Insensitivity Syndrome ; genetics ; Animals ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Receptors, Androgen ; chemistry ; genetics ; Sequence Alignment ; Young Adult

Objective To evaluate the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique used in karyotype analysis of chorionic villi from missed abortion. Methods Feb 2008 to Oct 2008, 91 patients with missed abortion diagnosed by hormonal measurement, type B ultrasound and physical exam matched with 20 normal pregnant women undergoing artificial abortion were enrolled in this study. Chorionic villi was obtained by suction dilation and curettage in aseptic condition, then those villi was cultured and analyzed by traditional cytogenetic karyotyping method, in the mean time, the DNA extracted from villi was detected by MLPA. The results of chromosomal G-banding of chorionic villi were compared between two methods. Results The diagnostic concordance of MLPA and traditional karyotyping was observed in 92% (84/91) cases, there were 84 cases in the case group with diagnostic concordance by traditional karyotyping and MLPA except 7 cases of euploidy could not be detected by MLPA. The 84 cases included 40 normal karyotype,29 trisomy of euchromosome, 1 double trisomy of euchromosome, 10 monosomy X , 1 monosomy X combined with trisomy of euchromosome, 2 chimaera of X chromosome, 1 structural abnormity of euchromosome. Among 7 cases with discordance diagnosis, 2 cases with trisomy and 5 cases with tetrasomy of euchromosome were identified in traditional karyotyping, however, they were all diagnosed with normal disomy by MLPA. Of 20 villi from normal pregnancy, two methods got the consistent results. Conclusion The MLPA was rapid and efficacy method used for analyzing aneuploids in chorionic villi.