Single-cell analysis with childhood and adult systemic lupus erythematosus.

Patients with systemic lupus erythematosus (SLE), a heterogeneous and chronic autoimmune disease, exhibit unique changes in the complex composition and transcriptional signatures of peripheral blood mononuclear cells (PBMCs). While the mechanism of pathogenesis for both childhood-onset SLE (cSLE) and adult-onset SLE (aSLE) remains unclear, cSLE patients are considered more unpredictable and dangerous than aSLE patients. In this study, we analysed single-cell RNA sequencing data (scRNA-seq) to profile the PBMC clusters of cSLE/aSLE patients and matched healthy donors and compared the PBMC composition and transcriptional variations between the two groups. Our analysis revealed that the PBMC composition and transcriptional variations in cSLE patients were similar to those in aSLE patients. Comparative single-cell transcriptome analysis between healthy donors and SLE patients revealed IFITM3, ISG15, IFI16 and LY6E as potential therapeutic targets for both aSLE and cSLE patients. Additionally, we observed that the percentage of pre-B cells (CD34-) was increased in cSLE patients, while the percentage of neutrophil cells was upregulated in aSLE patients. Notably, we found decreased expression of TPM2 in cSLE patients, and similarly, TMEM150B, IQSEC2, CHN2, LRP8 and USP46 were significantly downregulated in neutrophil cells from aSLE patients. Overall, our study highlights the differences in complex PBMC composition and transcriptional profiles between cSLE and aSLE patients, providing potential biomarkers that could aid in diagnosing SLE.

Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report.

RATIONALE: Steroid-resistant nephrotic syndrome (SRNS) is a special kidney disease. SRNS is characterized by steroid-resistant, clinical variability, and genetic heterogeneity. Patients with SRNS often may eventually need renal transplantation. PATIENT CONCERNS: A 10-month-old Chinese male infant presented with oliguria, renal dysfunction, hypertension, and anemia. DIAGNOSES: Combined with clinical manifestations, laboratory testing and sequencing results, the patient was diagnosed as SRNS. INTERVENTIONS: Combined intravenous methylprednisolone and cefoperazone sulbactam did not improve the patient's condition. Thus, SRNS associated with hereditary nephrotic syndrome was strongly suspected. Genetic testing for hereditary renal disease of the patient revealed 2 novel heterozygous mutations in the Nucleoporin 93 (NUP93) gene, which were predicted pathogenic and harmful by bioinformatic softwares of SIFT, PolyPhen_2 and REVEL. OUTCOMES: As general physical health deterioration and renal dysfunction, the patient died of a severe infection. LESSONS: The novel NUP93 heterozygous mutations identified in the current study broadened the genetic spectrum of SRNS and further deepened our insight into pathogenic mutations of NUP93 to improve disease diagnosis.

Stretchable piezoelectric energy harvesters and self-powered sensors for wearable and implantable devices.

Wearable and implantable bio-integrated electronics have started to gain momentum because of their essential role in improving the quality of life for various patients and healthy individuals. However, their continuous operation is often limited by traditional battery technologies with a limited lifespan, creating a significant challenge for their development. Thus, it is highly desirable to harvest biomechanical energies from human motion for self-powered bio-integrated functional devices. Piezoelectric energy harvesters are ideal candidates to achieve this goal by converting biomechanical energy to electric energy. Because of their applications on soft and highly deformable tissues of the human body, these devices also need to be mechanically flexible and stretchable, thus posing a significant challenge. Effective methods to address the challenge include the exploration of new stretchable piezoelectric materials (e.g., hybrid composite material) and stretchable structures (e.g., buckled shapes, serpentine mesh layouts, kirigami designs, among others). This review presents an overview of the recent developments in new intrinsically stretchable piezoelectric materials and rigid inorganic piezoelectric materials with novel stretchable structures for flexible and stretchable piezoelectric sensors and energy harvesters. Following the discussion of theoretical modeling of the piezoelectric materials to convert mechanical deformations into electrical signals, the representative applications of stretchable piezoelectric materials and structures in wearable and implantable devices are briefly summarized. The present limitations and future research directions of flexible and stretchable piezoelectric devices are then discussed.