Objective:To investigate the brain functional connectivity and network of patients with bipolar depression (BD) during emotion recognition, and to assess the correlation of brain functional indicators with clinical data.Methods:From August 2023 to September 2024, a total of 34 BD patients and 35 healthy controls were recruited for the study. The 17-item Hamilton depression scale(HAMD-17) and the Hamilton anxiety scale (HAMA) were used to assess the depression and anxiety symptoms of BD patients. While all the participants performed the emotion recognition task, a functional near-infrared spectroscopy (fNIRS) with 52 channels was utilized to collect their oxyhemoglobin concentrations in dorsolateral prefrontal cortex (DLPFC), medial prefrontal cortex (mPFC), and temporal lobe (TL). Brain functional indicators, including brain functional connectivity(BFC) and brain functional network (BFN) parameters, were extracted using fNIRS analysis algorithms. SPSS 26.0 software was used to perform t-test, Wilcoxon rank sum test, chi-square test, Pearson correlation and multiple linear regression analysis. Results:The emotion recognition accuracy of BD patients ((69.40±18.32) %) was lower than that of healthy controls ((76.94±6.09)%)( t=-2.13, P=0.036), and the average spending time ((4.00±1.78) s) of BD patients was longer than that of healthy controls ((2.69±1.27) s) ( t=-2.81, P=0.007). The BFC values of right DLPFC-right mPFC, right DLPFC-left TL, right DLPFC-left mPFC, right TL-right mPFC, right TL-left TL, right TL-left mPFC, right mPFC-left DLPFC, and right mPFC-left mPFC, the clustering coefficient, and small-world coefficient of BD patients were lower than those of healthy controls (all P<0.05).The characteristic path length of BD patients was higher than that of healthy controls ( t=1.27, P<0.05). For BD patients, the total score of HAMD-17 were significantly and negatively correlated with the clustering coefficient, small-world coefficients, and BFC values of right DLPFC-left mPFC and right mPFC-left DLPFC ( r=-0.45--0.27, all P<0.05).The total score of HAMA was significantly and positively correlated with the BFC value of right DLPFC-left mPFC ( r=0.30, P<0.05). The results of multiple linear regression analysis showed that the clustering coefficient ( β=-0.12, t=-0.69, P=0.009), small-world coefficients ( β=-0.22, t=-1.05, P=0.013), and BFC values of right DLPFC-left mPFC ( β=-0.47, t=-2.29, P=0.030) and right mPFC-left DLPFC( β=-0.20, t=-0.90, P=0.010) were influencing factors of depressive symptoms in BD patients. The BFC value of right DLPFC -left mPFC ( β=0.37, t=2.36, P=0.026) was influencing factor for anxiety symptoms in BD patients. Conclusions:There are abnormalities in some BFC values and BFN parameters in the DLPFC, mPFC, and TL brain regions during the emotional recognition task, which are related to the clinical symptoms. The abnormalities may be associated with the emotional recognition deficits in BD patients. These findings may provide theoretical guidance for the development of clinical intervention strategies for BD patients.

There is a shared problem in current optical imaging technologies of how to obtain the optical parameters of biological tissues with complex profiles. In this work, an imaging system for obtaining the optical parameters of biological tissues with complex profile was presented. Firstly, Fourier transformation profilometry was used for obtaining the profile information of biological tissues, and then the difference of incident light intensity at different positions on biological tissue surface was corrected with the laws of illumination, and lastly the optical parameters of biological tissues were achieved with the spatial frequency domain imaging technique. Experimental results indicated the proposed imaging system could obtain the profile information and the optical parameters of biological tissues accurately and quickly. For the slab phantoms with height variation less than 30 mm and angle variation less than 40º, the maximum relative errors of the profile uncorrected optical parameters were 46.27% and 72.18%, while the maximum relative errors of the profile corrected optical parameters were 6.89% and 10.26%. Imaging experiments of a face-like phantom and a human's prefrontal lobe were performed respectively, which demonstrated the proposed imaging system possesses clinical application value for the achievement of the optical parameters of biological tissues with complex profiles. Besides, the proposed profile corrected method can be used to combine with the current optical imaging technologies to reduce the influence of the profile information of biological tissues on imaging quality.
Diagnostic Imaging ; Humans ; Light ; Optical Imaging ; Phantoms, Imaging

Objective:To investigate the etiology of necrotizing pneumonia (NP) in children and the clinical characteristics of NP caused by different pathogens in China.Methods:A retrospective, case-control study was performed in children with NP who were admitted to 13 hospitals in China from January 2008 to December 2019. The demographic and clinical information, laboratory data, etiological and radiological findings were analyzed. The data were divided into three groups based on the following years: 2008-2011, 2012-2015 and 2016-2019, and the distribution characteristics of the pathogens in different period were compared. Meanwhile, the pathogens of pediatric NP in the southern and northern China were compared. And the clinical characteristics of the Mycoplasma pneumoniae (MP) NP and the bacterial NP were also compared. T-test or Mann-Whitney nonparametric test was used for comparison of numerical variables, and χ 2 test was used for categorical variables. Results:A total of 494 children with NP were enrolled, the median ages were 4.7 (0.1-15.3) years, including 272 boys and 222 girls. Among these patients, pathogens were identified in 347 cases and the pathogen was unclear in the remaining 147 cases. The main pathogens were MP (238 cases), Streptococcus pneumoniae (SP) (61 cases), Staphylococcus aureus (SA) (51 cases), Pseudomonas aeruginosa (13 cases), Haemophilus influenzae (10 cases), adenovirus (10 cases), and influenza virus A (7 cases), respectively. MP was the most common pathogen in all three periods and the proportion increased yearly. The proportion of MP in 2016-2019 was significantly higher than that in 2012-2015 (52.1% (197/378) vs. 36.8% (32/87), χ 2= 6.654, P=0.010), while there was no significant difference in the proportion of MP in 2012-2015 and that in 2008-2011 (36.8% (32/87) vs. 31.0% (9/29), χ2=0.314, P=0.575).Regarding the regional distribution, 342 cases were in the southern China and 152 in the northern China. Also, MP was the most common pathogen in both regions, but the proportion of MP was higher and the proportion of SP was lower in the north than those in the south (60.5% (92/152) vs. 42.7% (146/342), χ 2=13.409, P<0.010; 7.9% (12/152) vs. 14.3% (49/342), χ 2= 4.023, P=0.045). Comparing the clinical characteristics of different pathogens, we found that fever and cough were the common symptoms in both single MP and single bacterial groups, but chest pain was more common (17.0% (34/200) vs. 6.1% (6/98), χ 2=6.697, P=0.010) while shortness of breath and wheezing were less common in MP group (16.0% (32/200) vs. 60.2% (59/98), χ 2=60.688, P<0.01; 4.5% (9/200) vs. 21.4% (21/98), χ 2=20.819, P<0.01, respectively). The white blood cell count, C-reactive protein and procalcitonin in the bacterial group were significantly higher than those in the MP group (14.7 (1.0-67.1)×10 9/L vs. 10.5 (2.5-32.2)×10 9/L, 122.5 (0.5-277.3) mg/L vs. 51.4 (0.5-200.0) g/L, 2.13 (0.05-100.00) μg/L vs. 0.24 (0.01-18.85) μg/L, Z=-3.719, -5.901 and -7.765, all P<0.01). Conclusions:The prevalence of pediatric NP in China shows an increasing trend during the past years. MP, SP and SA are the main pathogens of NP, and the most common clinical symptoms are fever and cough. The WBC count, C-reactive protein and procalcitonin in bacterial NP are significantly higher than those caused by MP.

OBJECTIVE: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS). METHODS: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a CONCLUSIONS The
Aborted Fetus/physiopathology* ; Adult ; Eyelashes/pathology* ; Female ; Forkhead Transcription Factors/genetics* ; Frameshift Mutation ; Humans ; Lymphedema/pathology* ; Male ; Phenotype ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis. METHODS: Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of RESULTS: A heterozygous nonsense mutation c.1096G>T (p.E366*) was identified in the exon 11 of the CONCLUSIONS The somatic mosaic mutation c.1096G>T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism.
Female ; Humans ; Male ; Mosaicism ; Mutation ; Tuberous Sclerosis/genetics* ; Tuberous Sclerosis Complex 2 Protein/genetics* ; Whole Exome Sequencing

Objective: To explore the genetic basis for a fetus with Dandy-Walker malformation. Methods: G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents. Results: SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation. Conclusion The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.

Objective To explore the genetic basis for a child with mentally retardation.Methods G-banding karyotyping,single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child.Karyotyping and FISH were also carried out for her parents.Results SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child.The results were confirmed by FISH.Based on above results,the father was subsequently found to carry a cryptic t(5;7)(q35.2;q36.2) translocation.The child was verified to have inherited a der(5) t(5;7) (q35.2;q36.2) from her father.Conclusion The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child.SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.

OBJECTIVE: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in patients with intellectual disability/developmental delay(ID/DD). METHODS: SNP array was performed to detect genome-wide DNA copy number variants (CNVs) for 145 patients with ID/DD in Women's Hospital, Zhejiang University School of Medicine from January 2013 to June 2018. The CNVs were analyzed by CHAS software and related databases. RESULTS: Among 145 patients, pathogenic chromosomal abnormalities were detected in 32 cases, including 26 cases of pathogenic CNVs and 6 cases of likely pathogenic CNVs. Meanwhile, 18 cases of uncertain clinical significance and 14 cases of likely benign were identified, no significant abnormalities were found in 81 cases (including benign). CONCLUSIONS SNP array is effective for detecting chromosomal abnormalities in patients with ID/DD with high efficiency and resolution.
Chromosome Aberrations ; DNA Copy Number Variations ; Genome-Wide Association Study ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Oligonucleotide Array Sequence Analysis ; standards ; Polymorphism, Single Nucleotide

OBJECTIVE: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in prenatal genetic diagnosis for fetuses with absent nasal bone. METHODS: Seventy four fetuses with absent nasal bone detected by prenatal ultrasound scanning were recruited from Women's Hospital, Zhejiang University School of Medicine during June 2015 and October 2018. The chromosome karyotypes analysis and SNP array were performed. The correlation between absent fetal nasal bone and chromosome copy number variants was analyzed. RESULTS: Among 74 fetuses, 19 were detected to have chromosomal abnormalities, including 16 cases of trisomy-21, 1 case of trisomy-18 and two cases of micro-deletion/duplication. Among 46 cases with isolated absence of nasal bone, 3 had trisomy-21, and 1 had a micro-duplication. Absence of nasal bone in association with nuchal translucency thickening had a higher rate of abnormal karyotypes compared with isolated absence of nasal bone (=32.27,<0.01). CONCLUSIONS Fetuses with absent nasal bone and nuchal translucency thickening are likely to have chromosome abnormalities, and SNP array testing is recommended to exclude the chromosome abnormalities.
Chromosome Aberrations ; Female ; Fetus ; Humans ; Nasal Bone ; abnormalities ; Oligonucleotide Array Sequence Analysis ; standards ; Polymorphism, Single Nucleotide ; genetics ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis ; methods

OBJECTIVE: To analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy. METHODS: A total of 2057 women with twin-pregnancy between 12-26 weeks were recruited from Women's Hospital, Zhejiang University School of Medicine, Hangzhou Municipal Women's Hospital and Jiaxing Maternal and Child Health Hospital during February 2015 to August 2018. The cell-free DNA was extracted from the peripheral blood sample for DNA library, and non-invasive prenatal testing (NIPT) was performed by high-throughput sequencing technique. The fetal karyotype analysis or neonatal karyotype analysis was performed in pregnant women with fetal chromosome aneuploidy, and all subjects were followed up. The efficiency of NIPS testing for twin aneuploidy was calculated. RESULTS: NIPS revealed chromosome abnormalities in 11 out of 2057 twin pregnant women, 9 cases were confirmed chromosome abnormalities, 2 cases were normal and no false negative cases. In this screening, the detection rate, sensitivity, specificity, positive predictive value, false positive rate of NIPS were 100.00%, 100.00%, 99.90%, 81.82%, 0.10%. Those were 100.00%, 100.00%, 99.95%, 87.50% and 0.05% for trisomy 21, 100.00%, 100.00%, 100.00%, 100.00%, 0.00% for trisomy18, and the specificity and false positive rate for trisomy13 were 99.95% and 0.05%, respectively. CONCLUSIONS NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies,and it is of value in clinical application.
Aneuploidy ; Female ; Humans ; Noninvasive Prenatal Testing ; standards ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Trisomy