A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO. Here, we report a case of a male patient who presented with kidney failure in childhood with progressive disabling skeletal deformity. He was diagnosed with MCTO at 31-years-old, where a de novo pathogenic heterozygous variant in NM_005461.5:c.212C>A: p.(Pro71His) of the MAFB gene was identified. While there has been little data on the long-term prognosis and life expectancy of this disease, this case report sheds light on the debilitating disease course with multiple significant morbidities of a patient with MCTO throughout his lifetime of 33 years.

Humoral and Cellular Immunogenicity of 3 Doses of BNT162b2 in Children With Kidney Diseases.

Introduction: Patients with severe kidney diseases are at risk of complications from COVID-19; however, little is known about the effectiveness of COVID-19 vaccines in children and adolescents with kidney diseases. Methods: We investigated the immunogenicity and safety of an accelerated 3-dose primary series of COVID-19 vaccination among 59 pediatric patients with chronic kidney disease (CKD) (mean age 12.9 years; 30 male) with or without immunosuppression, dialysis, or kidney transplant. Dosage was 0.1 ml BNT162b2 to those aged 5 to 11 years, and 0.3 ml BNT162b2 to those aged 11 to 18 years. Results: Three doses of either vaccine type elicited significant antibody responses that included spike receptor-binding domain (S-RBD) IgG (90.5%-93.8% seropositive) and surrogate virus neutralization (geometric mean sVNT% level, 78.6%-79.3%). There were notable T cell responses. Weaker neutralization responses were observed among those on immunosuppression, especially those receiving higher number of immunosuppressants or on mycophenolate mofetil. Neutralization was reduced against Omicron BA.1 compared to wild type (WT, i.e., ancestral) (post-dose 3 sVNT% level; 82.7% vs. 27.4%; P < 0.0001). However, the T cell response against Omicron BA.1 was preserved, which likely confers protection against severe COVID-19. Infected patients exhibited hybrid immunity after vaccination, as evidenced by the higher Omicron BA.1 neutralization response among these infected patients who received 2 doses compared with those who were uninfected. Generally mild or moderate adverse reactions following vaccines were reported. Conclusion: An accelerated 3-dose primary series with BNT162b2 is immunogenic and safe in young children and adolescents with kidney diseases.

High-k, Ultrastretchable Self-Enclosed Ionic Liquid-Elastomer Composites for Soft Robotics and Flexible Electronics.

Soft robotics focuses on mimicking natural systems to produce dexterous motion. Dielectric elastomer actuators (DEAs) are an attractive option due to their large strains, high efficiencies, lightweight design, and integrability, but require high electric fields. Conventional approaches to improve DEA performance by incorporating solid fillers in the polymer matrices can increase the dielectric constant but to the detriment of mechanical properties. In the present work, we draw inspiration from soft and deformable human skin, enabled by its unique structure, which consists of a fluid-filled membrane, to create self-enclosed liquid filler (SELF)-polymer composites by mixing an ionic liquid into the elastomeric matrix. Unlike hydrogels and ionogels, the SELF-polymer composites are made from immiscible liquid fillers, selected based on interfacial interaction with the elastomer matrix, and exist as dispersed globular phases. This combination of structure and filler selection unlocks synergetic improvements in electromechanical properties-doubling of dielectric constant, 100 times decrease in Young's modulus, and ∼5 times increase in stretchability. These composites show superior thermal stability to volatile losses, combined with excellent transparency. These ultrasoft high-k composites enable a significant improvement in the actuation performance of DEAs-longitudinal strain (5 times) and areal strain (8 times)-at low applied nominal electric fields (4 V/µm). They also enable high-sensitivity capacitive pressure sensors without the need of miniaturization and microstructuring. This class of self-enclosed ionic liquid polymer composites could impact the areas of soft robotics, shape morphing, flexible electronics, and optoelectronics.