Construction of a rapid depression screening model for blood donors in Guangzhou based on decision tree / 中国输血杂志

【Objective】 To investigate the prevalence of depression in blood donors and analyze the related factors, so as to develop a rapid depression screening model for blood donors. 【Methods】 A total of 13 015 street whole blood donors in Guangzhou Blood Center during May to August, 2020 filled in an anonymous e-questionnaire, including social demography information and the Patient Health Questionnaire-9 before donation. The cut-off value for detecting depression was 10. Logistic regression by SPSS 26.0 was used to analyze depression related factors. 2-level decision tree with 30/10 as the minimum number of cases in parent/child node, 10-fold cross validation was used to cut items of PHQ-9 to form the depression screening model. 【Results】 364 out of 13 015 (2.80%) street whole blood donors reported a score ≥ 10. Donors with 18-29 years old (P <0.05), unmarried (P<0.05), less than 50 000 RMB household income per year (P< 0.05) were more prone to depression. 81.96% donors in "<10 scores" group, while 3.85%donors in "≥ 10 scores" group were in two terminal nodes formed by Item-6, 2 and 4 of PHQ-9. After verification by the 10 fold crossover method, the estimated misclassification risk of the model was 1.7%. 【Conclusion】 The screening prevalence of depression based on PHQ-9 in Guangzhou blood donors was 2.8%(95% CI: 2.52%-3.09%) . Donation frequency was not related to depression. A rapid and efficient depression screening model for blood donors based on item-6, 2 and 4 of PHQ-9 was developed.

Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis / 中华医学遗传学杂志

OBJECTIVE@#To explore the genotype-phenotype correlation of a case with GM1-gangliosidosis caused by compound heterogenic variants in GLB1.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Trio-based whole-exome sequencing (WES) was performed for the family and suspected mutation was verified by Sanger sequencing.@*RESULTS@#The proband, a 2-year-3-month old Chinese girl, presented with psychomotor deterioration, absent speech, intellectual disabilities and behavior problem. Trio-based WES has identified compound heterozygosity for 2 variants in the GLB1 gene: NM_000404.2:c.1343A>T, p.Asp448Val and c.1064A>C, p.Gln355Pro (GRCh37/hg19),which was inherited from the mother and father, respectively. Homozygous or compound heterozygous pathogenic variants in GLB1, encoding β-galactosidase, are responsible for GM1-gangliosidosis,an autosomal recessive lysosomal storage disorder characterized by variable degrees of neurodegeneration and skeletal abnormalities. The p.Asp448Val variant has been classified as pathogenic for GM1 gangliosidosis in medical literatures for the reason that functional studies demonstrated that expression of the p.Asp448Val variant in COS-1 cells resulted in no detectable β-galactosidase activity compared to wild type GLB1. The p.Gln355Pro variant has not been reported in literatures or database. The variant is highly conserved residue (PM1), and was not found in either the Genome Aggregation Database or the 1000 Genomes Project (PM2) and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3). Next, the β-galactosidase activity of the patient's peripheral blood leukocytes was determined by fluorescent method. The result was 0.0 nmol/mg. It showed that the p.Gln355Pro variant also resulted in loss of β-galactosidase activity, thus the variant was classified into clinical pathogenic variant.@*CONCLUSION@#Our study expands the mutational spectrum of the GLB1 gene and provides genetic counseling for the family.

Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring complex cortical dysplasia and other brain malformations (CDCBM3).@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out for the family trio. Suspected variant was verified by Sanger sequencing.@*RESULTS@#The proband, a 1-year-and-2-month old Chinese boy, had presented with motor developmental delay, lissencephaly, severe cognitive impairments, absent speech and congenital laryngomalacia. WES revealed that he has harbored a heterozygous missense variant of the KIF2A gene, namely NM_001098511.2: c.952G>A, p.Gly318Arg (GRCh37/hg19). The highly conserved residue is located around the ATP nucleotide-binding pocket in the kinesin motor domain (PM1). The variant was not found in the Genome Aggregation Database and the 1000 Genomes Project (PM2), and was predicted to be deleterious on the gene product by multiple in silico prediction tools (PP3). This variant was unreported previously and was de novo in origin (PS2). Based on the ACMG guidelines, it was categorized as likely pathogenic (PS2+PM1+PM2+PP3). Furthermore, the congenital laryngomalacia found in our patient was absent in previously reported CDCBM3 cases.@*CONCLUSION@#The novel variant of the KIF2A gene probably underlay the disorders in the proband. Above finding has expanded the phenotypic and mutational spectrum of CDCBM3.

Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genotype-phenotype correlation of a Chinese pedigree affected with Lowe syndrome.@*METHODS@#Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of his pedigree.@*RESULTS@#The proband, a 3-year-and-5-month-old male, presented with multiple anomalies including congenital cataract, glaucoma, brain dysplasia, renal dysfunction and cognitive impairment. WES revealed that he has harbored a novel hemizygous missense variant of the OCRL gene, namely NM_000276.3: c.1255T>C (p.Trp419Arg) (GRCh37/hg19), which was derived from his unaffected mother. The same variant was not found in his elder brother who was healthy. The variant was predicted to be pathogenic according to ACMG/AMP guideline. Compared with previously reported cases of Lowe syndrome, our patient has displayed rare features including corpus callosum dysplasia, reduction of white matter, cerebral hypoplasia, laryngomalacia, sebaceous cyst, recurrent eczema, cryptorchidism, hypoglycemia and irritability.@*CONCLUSION@#Above finding has expanded the mutational spectrum of the OCRL gene, enriched clinical features of Lowe syndrome, and enabled genetic counseling for this pedigree.

Spatial distribution analysis of blood donors′ intended donation addresses based on ArcGIS / 中国输血杂志

【Objective】 To apply the spatial distribution analysis based on ArcGIS software, which has been applied widely in other fields, so as to analyze the intended locations for whole blood donation. 【Methods】 After a random stratified sampling was conducted among blood donors in the 17 donation sites during August 1st, 2021- July 30th, 2022, their intended blood donation locations were collected by an e-questionnaire. Addresses of donors′ intended donation locations were derived for GCJ-02 coordinates form and transformed by pandas module of Python to WGS84 coordinates, which further loaded to ArcGIS Arcmap module using Grouping Analysis for 17 median centers. The addresses of 17 blood donation sites in Guangzhou Blood Center were transformed to WGS84 coordinates and loaded to ArcGIS Arcmap module using the same methods for 3 ring buffer analysis. The criterion for judging whether the two were " matched" was whether the intended blood donation sites were covered by or adjacent to the 3 ring buffer zone of the existing blood donation sites. 【Results】 Of the 17 potential sites obtained from the spatial distribution analysis of 40 523 valid addresses of donors, 8 sites were covered or adjacent to the buffer of the existing donation sites, while the other 9 sites were far away from the existing donation sites. 【Conclusion】 By analyzing the spatial distribution of donors′ intended donation addresses, we can find out the service needs of donors for donating blood conveniently, which can provide basis for further blood donation service optimization.

Influencing factors related to repeated blood donation among college students in Guangzhou / 中国输血杂志

【Objective】 To investigate the positive and negative influencing factors concerning repeated blood donation among college students, in order to provide reference for the maintenance and retention of college student blood donors. 【Methods】 The questionnaire was made in terms of motivators, barriers and social supports related to repeated blood donation based on relevant literature at home and broad and the results of semi-structured interviews. From November to December 2020, 1 200 college donors from 10 colleges in Guangzhou were selected. The results of questionnaires were analyzed with Chi-square test and multivariate logistic regression by SPSS 26.0. 【Results】 Good for health, shortage of blood, favorable policy concerning blood donation, and blood need of family members were the four motivators of repeated blood donation. The inconvenience of blood donation location and dissatisfaction with blood donation souvenir were the two barriers. In addition, encouragement from classmates and curiosity were the two motivators, and harmful to health was the barrier in first-time college blood donors. 【Conclusion】 Blood banks should strengthen the publicity of blood related knowledge, preferential policies concerning blood donation, and status of blood collection and supply, etc, make full use of the influence of peers and the favorable environment of colleges to form a right atmosphere for blood donation, and enhance the reputation and service of blood banks.

The values of MRI routine sequences and functional imaging in diagnosing neonatal hypoglycemic encephalopathy / 实用放射学杂志

Objective To investigate the clinical value of routine MRI and functional imaging modality in the diagnosis of neonatal hypoglycemic encephalopathy.Methods Twelve diagnosed cases of neonatal hypoglycemic encephalopathy were obtained.Routine MRI sequence and DWI and SWI were performed in all cases.The MRI findings of each sequence as well as the sensitivity and the effect of each sequence were analyzed.Results The lesions were mainly located in corpus callosum (1 2 cases)followed by white matter of occipital lobe,frontal lobe and temporal lobe.Bilateral symmetrical distribution was found in 6 cases.The lesions were manifested as dot and flake like shape with different sizes,low signal intensity in T1WI,high in T2WI,bright in DWI and low in ADC maps and low SWI signal lesions.The total number of lesions in each sequence were displayed as follows:31 lesions in DWI,10 lesions in FLAIR,9 lesions in T2WI,6 lesions in T1WI and 5 lesions in SWI.The signal values were 1 898.30±290.46 and 933.71± 450.34 in T2WI and DWI respectively.The signal to noise ratio in T2WI and DWI were 9.28±5.73 and 22.40±15.59 respectively, and the DWI contrast signal ratio was significantly higher than that of T2WI (F=7.48,P=0.012).Conclusion The signal features and distribution of MRI in neonatal hypoglycemic encephalopathy are characteristic.DWI is more sensitive than other sequences in displaying lesions and SWI sequence could detect micro hemorrhagic foci.MRI routine sequence with function imaging is a valuable method for the diagnosis of neonatal hypoglycemic encephalopathy.