Tri-allelic patterns of STRs and partially homologous non-sister chromatid crossover observed in a parentage test

A maternity testing case is reported, in which the child showed tri-allelic patterns in two short tandem repeat (STR) loci. The genotypes of Penta D of the mother and the child were 9,13 and 9,10,13, respectively. Those of D21S11 were 32.2,35 and 29,35, respectively, but intensity ratio of alleles 29 and 35 of the child was 1:2. These results suggested the copy number variations (CNVs) or trisomy of chromosome 21. By further examination using STR-based chromosome aneuploidy detection kit, three alleles were detected in D21S1411, LFG21 and Penta D, and 2 alleles with intensity ratio of 1:2 were observed in D21S2502, D21S1435, D21S11 and D21S1246. Karyotype and whole-genome SNP array analyses showed that the child had a free trisomy 21. In addition, partially homologous non-sister chromatid crossover occurred at the region 19181770-39499178 on the long arm of chromosome 21.     

Aggressive resection of craniopharyngioma achieved by drilling the tuberculum sellae/planum sphenoidale using a frontal basal interhemispheric approach: A review of 55 cases

ObjectiveThe frontal basal interhemispheric approach (FBIA) is preferable for resection of craniopharyngioma (CP), achieving desirable total resection rates in early reports of lesions located in the suprasellar region to the third ventricle. For tumours that have created a larger obstruction of the tuberculum sellae and planum sphenoidale, aggressive resection in the intrasellar region and medial wall of the cavernous sinus is not feasible compared to improving tumour visualization by drilling the tuberculum sellae and planum sphenoidale. In a report of drilling the sellar tuberculum and sphenoid planum, drilling allowed the direct visualization of tumours invading the intrasellar region and medial wall of the cavernous sinus. Reconstructing the opening of the sellar-sphenoid cavity is achieved by microsuturing a piece of the pericranium/dura around the dural edge of the defective dura of the open sphenoid sinus and sellar cavity to prevent cerebrospinal fluid (CSF) leakage.Patients and methodsThe FBIA with drilling of the tuberculum sellae and planum sphenoidale was performed to remove the tumours that invaded the intrasellar region and cavernous sinus in 55 patients from January 2014 to October 2019 at our institution. The pre- and postoperative pituitary hormone levels and vision were evaluated as effective standards after surgery and compared using paired t-tests. The different rates of CSF leakage between the packing and microsuture groups were compared by χ² test, p < 0.05.ResultsIn all patients with a mean 37-month follow-up (range, 3–2 months), 43 (78.2%) patients returned to their normal life or school independently, 7 (12.7%) patients were able to perform normal activities with minor complaints or effort, and 4 (7.3%) patients could care for themselves or only required occasional assistance. One (1.8%) death occurred, attributed to CSF leak-related meningitis at 5 months after surgery. Postoperative CSF leakage occurred in eight (19.0%) of 42 patients with packed bone wax or pieces of muscle to the sphenoid sinus. Of 13 patients with a piece of the periosteum/dura microsutured around the defective dura of the sellar region and open sphenoid sinus, one (7.7%) of 13 patients experienced CSF leakage in the perioperative period. With statistical analysis, there was a potential risk for postoperative CSF leakage in the bone wax and muscle piece in the open sphenoid sinus, whereas microsuture manoeuvres were effective for avoiding the risk of postoperative CSF leakage (χ² = 8.865, p < 0.005). The microsutures closed the open sphenoid sinus such that it was water-tight. Postoperative visual acuity and the visual field were not affected by the increased intrasellar exposure or the open sphenoid sinus achieved by drilling the tuberculum sellae and planum sphenoidale.ConclusionTuberculum sellae/planum sphenoidale drilling via FBIA is feasible to enhance the direct visualization of CP resection, which expands the intrasellar region with a direct resection of recurrent tumours in the sellar cavity and adhering to the medial wall of the cavernous sinus. The potential risk of a CSF leakage seemed to be mitigated when using water-tight microsutures on a piece of the pericranium/dura around the edge of the defective dura in the sellar region and the open sphenoid sinus cavity.     

Multi-site clustering and nested feature extraction for identifying autism spectrum disorder with resting-state fMRI

Brain functional connectivity (FC) derived from resting-state functional magnetic resonance imaging (rs-fMRI) has been widely employed to study neuropsychiatric disorders such as autism spectrum disorder (ASD). Existing studies usually suffer from (1) significant data heterogeneity caused by different scanners or studied populations in multiple sites, (2) curse of dimensionality caused by millions of voxels in each fMRI scan and a very limited number (tens or hundreds) of training samples, and (3) poor interpretability, which hinders the identification of reproducible disease biomarkers. To this end, we propose a Multi-site Clustering and Nested Feature Extraction (MC-NFE) method for fMRI-based ASD detection. Specifically, we first divide multi-site training data into ASD and healthy control (HC) groups. To model inter-site heterogeneity within each category, we use a similarity-driven multiview linear reconstruction model to learn latent representations and perform subject clustering within each group. We then design a nested singular value decomposition (SVD) method to mitigate inter-site heterogeneity and extract FC features by learning both local cluster-shared features across sites within each category and global category-shared features across ASD and HC groups, followed by a linear support vector machine (SVM) for ASD detection. Experimental results on 609 subjects with rs-fMRI from the ABIDE database with 21 imaging sites suggest that the proposed MC-NFE outperforms several state-of-the-art methods in ASD detection. The most discriminative FCs identified by the MC-NFE are mainly located in default mode network, salience network, and cerebellum region, which could be used as potential biomarkers for fMRI-based ASD analysis.     

Baicalein attenuates the neuroinflammation in LPS-activated BV-2 microglial cells through suppression of pro-inflammatory cytokines,COX2/NF-κB expressions and regulation of metabolic abnormality

Baicalein (5,6,7-trihydroxyflavone), isolated from the root of traditional Chinese herb Scutellaria baicalensis Georgi, has anti-inflammatory and anti-oxidative activities. This study explored the protective and modulatory mechanisms of baicalein on neuroinflammation, oxidative stress and metabolic abnormality in lipopolysaccharide (LPS)-activated BV-2 cells. Our results demonstrated that treatment with baicalein remarkably restrained the production of pro-inflammatory factors including nitric oxide (NO), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in LPS-activated BV-2 cells. Moreover, baicalein significantly inhibited reactive oxygen species (ROS) production, decreased cyclooxygenase-2 (COX-2) and nuclear factor-b (NF-κB)/p65 expression. ¹H NMR metabolomics analysis revealed that 12 differential metabolites were regulated by baicalein, implicated in alanine, aspartate and glutamate metabolism, glutathione metabolism, arginine and proline metabolism, D-glutamine and D-glutamate metabolism. In conclusion, these results indicated that baicalein has protective and modulatory effects on neuroinflammation and oxidative stress in LPS-activated BV-2 cells.