Topological structural characteristics in patients with systemic lupus erythematosus with and without neuropsychiatric symptoms.

Purpose: This study investigated the topological structural characteristics of systemic lupus erythematosus (SLE) with and without neuropsychiatric symptoms (NPSLE and non-NPSLE), and explore their clinical implications.

Methods: We prospectively recruited 50 patients with SLE (21 non-NPSLE and 29 NPSLE) and 32 age-matched healthy controls (HCs), using MRI diffusion tensor imaging. Individual structural networks were constructed using fibre numbers between brain areas as edge weights.

Clinical application of whole exome sequencing technology in small-for-gestational-age children.

Aim: To apply whole exome sequencing (WES) for molecular diagnosis of small-for-gestational-age (SGA) children.

Methods: We retrospectively analyzed the data of 60 SGA children in our hospital, and performed developmental assessment, laboratory tests, imaging tests, and whole exome sequencing (WES), which were combined with clinical phenotypes to clarify the pathogenicity of the variant genes in the children.

Results: Sixty SGA children were tested, and pathogenic SGA was detected at relatively high frequencies on chromosomes 7, 8, and 22.

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.

Purpose: PHF21A has been associated with intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Here, we report a new patient with IDDBCS and review previously reported patients.

Methods: We reviewed the phenotypic and genetic spectrum of the newly diagnosed patient and previously reported patients with IDDBCS.

Potential Cross Talk between Autism Risk Genes and Neurovascular Molecules: A Pilot Study on Impact of Blood Brain Barrier Integrity.

Autism Spectrum Disorder (ASD) is a common pediatric neurobiological disorder with up to 80% of genetic etiologies. Systems biology approaches may make it possible to test novel therapeutic strategies targeting molecular pathways to alleviate ASD symptoms. A clinical database of autism subjects was queried for individuals with a copy number variation (CNV) on microarray, Vineland, and Parent Concern Questionnaire scores.

Structural and Functional Characterization of Gray Matter Alterations in Female Patients With Neuropsychiatric Systemic Lupus.

Objective: To investigate morphological and functional alterations within gray matter (GM) in female patients with neuropsychiatric systemic lupus (NPSLE) and to explore their clinical significance.

Methods: 54 female patients with SLE (30 NPSLE and 24 non-NPSLE) and 32 matched healthy controls were recruited. All subjects received a quantitative MRI scan (FLAIR, 3DT1, resting-state functional MRI).

Different patterns of cerebral perfusion in SLE patients with and without neuropsychiatric manifestations.

To investigate brain perfusion patterns in systemic lupus erythematosus (SLE) patients with and without neuropsychiatric systemic lupus erythematosus (NPSLE and non-NPSLE, respectively) and to identify biomarkers for the diagnosis of NPSLE using noninvasive three-dimensional (3D) arterial spin labeling (ASL). Thirty-one NPSLE and 24 non-NPSLE patients and 32 age- and sex-matched normal controls (NCs) were recruited. Three-dimensional ASL-MRI was applied to quantify cerebral perfusion.

Radiomics in multiple sclerosis and neuromyelitis optica spectrum disorder.

Objective: To develop and validate an individual radiomics nomogram for differential diagnosis between multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD).

Methods: We retrospectively collected 67 MS and 68 NMOSD with spinal cord lesions as a primary cohort and prospectively recruited 28 MS and 26 NMOSD patients as a validation cohort. Radiomic features were extracted from the spinal cord lesions.